When Dr. Izzy Lowell moved from Boston to start her new job at Emory University Hospital in Atlanta in 2013, she quickly realized something was missing.

The family medicine clinic she worked with didnt seem to be serving transgender patients, which seemed unusual to Lowell.

Working with the LGBTQ community had always been something she had been interested in doing, even though her medical school training did not really cover how to treat people on hormone replacementtherapy (HRT).

More: Coming out: Stories of taking off the 'straight face'

She realized that to serve this population she would have to educate herself and learneverything she could about hormone replacement therapy. Soon she put in place a one-day gender clinic at Emory reserved for those patients.

Pretty soon patients started driving in from out of state, she said.

Even in one of the largest cities in the South, Lowell discovered, that medical care focused on this population and on transgender people in particular, was severely limited.

She watched patients crossing state lines every week to visit the clinic.

Dr. Izzy Powell, founder of QueerMed, which operates in part as a pop-up clinic providing hormone replacement therapy for transgender and non-binary people.(Photo: Contributed by QueerMed)

I thought, there has to be a better way to treat underserved transgender people from out of state, she said recently.

Fast forward five years and Lowell found a solution.

Her health organization QueerMed, which she founded in 2017, is an evolution of the one-day clinic she ran at Emory. In part, it operates as a pop-up clinic providing hormone replacement therapy for transgender and non-binary people. Lowell and her team of two nurse practitioners will go to towns in states across the South where she is licensed to do consults and start patients on HRT. Follow-up visits are mainly done via teleconferencing. The clinic recently added some PrEP care, which is the use anti-HIV medication to keep people who are HIV negative from getting infected.

More: 'Long way to go': LGBTQ police liaisons provide link between the department and community

Word of mouth has kept the doctor and her team busy with pop-up clinics scheduled once or twice a month in cities like Chattanooga, Tenn.,and Montgomery, Ala., where gender affirming care can be difficult if not impossible to find.

Even in Georgia, a state with the fourth highest population of people who identify as transgender, gender affirming health providers arent the norm.

Its a huge issue. I had a patient last week call 10 other offices in Atlanta to start hormone therapy. They all said, Im not going to do that, said Lowell. If someone has to call 11 different offices in Atlanta for care, imagine what its like in small towns?

While access to gender affirming health providers is a problem across the U.S., its a significant problem in the South, which is home to the largest population of people identifying as transgender in the U.S. New data released in early November by the Movement Advancement Project, showed that the southern states are home to about 567,000 transgender residents. Thats about 41 percent of all U.S. adults who identify as transgender.

More: Montgomery ranks low on advocacy group's annual LGBTQ protection score

Health care discrimination is unlawful under existing federal law and the Affordable Care Act, which took effect in 2014, also prohibits discrimination. Still, the transgender population is historically underserved and face significant barriers in the healthcare system including access to providers and medical staff who are culturally competent. Other transgender people face financial barriers and prejudice. These issues are often worsefor transgender people of color, in particular black transgender women who face higher incidentsof violence.

Its estimated that about 23 percent of transgender people avoid seeking medical care for fear of being discriminated against and about 33 percent say they cant afford healthcare, according to the 2016U.S. Trans Survey from the National Center for Transgender Equality.

The American South is your destination for journalism that exposes the wrongs and celebrates what's right about the region. Brought to you by the USA TODAY Network. Follow us and join the conversation.

The LGBTQ advocacy group, Campaign for Southern Equality, led a focus group recently to better understand the healthcare needs of transgender and non-binary people in the South. They spoke with 48 participants from North Carolina, South Carolina, Alabama, Mississippi, Arkansas, and Tennessee who reported barriers to finding and accessing affordable care. For instance, finding providers who are available and willing to offer care.

This includes the staff in the waiting room, says Ivy Hill, the community health director for the Campaign for Southern Equality.

I cant emphasize the importance of a knowledgeable front office staff, Hill said. Sitting in the waiting room and having the person out you as trans, in a rural small town where everyone knows you? Suddenly you are outed to everyone in that community. It cannot be overly emphasized how dangerous that can be.

Kayla Gore, a resident of south Memphis, transitioned from male to female when she was 23. Without insurance at the time, she started the process on her own without medical help buying hormones off the street. This resulted in her developing serious blood clots in her legs, a potentially fatal complication that can result from taking hormones without medical supervision.

When she landed a job that offered health benefits she was able to start HRT under the guidance of a doctor.

The process was challenging, Gore said, requiring a lot of extra testing because of her history with blood clots. She was also required to speak with a mental health counselor once a month to be assessed for gender dysphoria the medical term used to describe a person whose gender identity does not match up with the biological sex they were assigned at birth.

No one explained to me why I was seeing this person, Gore said describing the doctors tone and demeanor as condescending. She eventually switched to a younger doctor who had a better understanding of how to work with transgender patients, Gore explained.

We have thought about these decisions for weeks, months, a lifetime, Gore said. I always had gender dysphoria. Its hard to go to the doctor and feel questioned about something you have always known about yourself.

Gore, who is now 34 and working for the Transgender Law Center and as an organizer for the advocacy group Southerners on New Ground, says that finding a job with health benefits was a turning point in her story.

Without insurance she estimates that HRT in the Memphis area averages between $150 to $175 per treatment, not including the cost of lab tests and additional fees.

For some people, thats nothing. For many, its impossible, she said.

Even if the cost isnt prohibitive, Gore estimates there are only about five doctors in the Memphis-area that offer hormone treatment. The wait to see them is enormous, Gore said. This forces a lot of people to use the black market or go online to start it on their own.

Louisiana resident, Jules Morales, 26, said he had tremendous support from his friends and family which made it easier for him when he started the gender transition process from female to male three years ago.

A friend directed him to Dr. Brandy Panunti, an endocrinologist, who over the last three years, has led efforts at the Ochsner Health System in New Orleans to offer HRT and health services aimed at transgender people.

Portrait of Jules Morales for story of the difficulty of trans people finding medical care in the South. Photographed on Tuesday, December 10, 2019.(Photo: Michael Democker, Michael DeMocker)

Morales was on HRT for a year before he decided to undergo gender reassignment surgery. Unable to find a doctor who could perform the surgery in Louisiana, Morales flew to California after a nearly 8-month waiting period. He remained there in recovery for nearly a month after the surgery.

Im lucky. I had tremendous support from my friends and family and it made all of this a lot easier, Morales said.

The team at Louisiana Trans Advocates receives about two to three emails a day from transgender people looking for help identifying food assistance or other resources in Louisiana.

About 90 percent are looking for a doctor, said Dylan Waguespack, the president of the board of directors for the organization.

Most are looking for providers able to offer hormone replace therapy so that they can get a documentation change. As a result, the group keeps a close track on what providers offer these services in Louisiana.

While cultural competency can be a barrier, with providers not necessarily knowing how to work and address transgender people, the bigger issue is access.

There arent enough providers offering transition related care, Waguespack said.

There are a handful of health providers in Louisiana that have made strides to improve care for transgender people. CrescentCare in New Orleans opened a gender clinic providing primary care and hormone replacement therapy in 2017. The Planned Parenthood clinic started offering these services in June.

The reception area in the Planned Parenthood in New Orleans where a new gender clinic opened in October to serve LGBTQ patients.(Photo: Planned Parenthood)

Ochsner Health System, the largest hospital network in Louisiana, has made cultural changes to educate staff and health providers. This includes training employees on how to address the health needs of transgender people.

One of the most significant changes they made was to create an alert in their electronic medical record system that notifies providers when the person identifies with a gender they werent assigned with at birth. Using preferred names was an easy practice for staff to incorporate, Panunti said.

They also updated their medical coding to make sure there werent any errors and a patient could receive coverage for gender specific exams.

Since making these changes, Panunti said that several primary care physicians in the Ochsner system have reached out to start offering HRT. Transgender patients have traditionally gone to endocrinologists for HRT, but in recent years more internal medicine and family physicians have started providing this care in their practices.

When you talk about caring for the gender patient its not complex, Panunti said. But really being an advocate for this population and helping them not feel alone from the walk-in through the parking lot, to the waiting room and minimizing their vulnerability. (That) needs to be at the forefront.

Click link formore information on QueerMed.

For more information and resources on trans-friendly and trans-competent health providers visit Trans in the South Guide 2019

For more information and resources the transgender community visit GLAAD.

In a previous version of this story,we stated that QueerMed offers primary care services. While the original gender clinic at Emory University offered primary care, QueerMed focuses on hormone replacement therapy and other medical services.

Read more here:
Southern trans adults struggle to find health care. Heres why - Daily Advertiser

Recommendation and review posted by Bethany Smith

Please enable Javascript to watch this video

Is your intimacy feeling a bit chilly these days? If erectile dysfunction is the cause of that, then you'll be glad to know there's new technology to get that fire started again!

Andrew Rinehart, a Medical Technician with Wasatch Medical Clinic, says there is a breakthrough solution that's a permanent fix to ED.

For years, ED has been treated with medicine and surgery, but Acoustic Wave Therapy is different.

"Acoustic Wave Therapy treats the root cause of the problem, which is blood flow," Rinehart said. "It widens blood vessels, increasing the amount of blood released into the penis during arousal."

It does this, he says, without the harmful side effects that medication and hormone therapy can have. It targets the problem without throwing your whole body off balance.

Andrew said that if viewers call now, a free doctor exam and ultrasound (worth $300+) will be done with a medical doctor. So there really isn't anything to lose! Even if you don't go through with the treatment, you will know the cause of your E.D. But with the results patients are seeing - such as a total rebound in the bedroom in 3-4 weeks, who wouldn't want to give this a try?

For your free consultation, call 801-901-8000 or visitwasatchmedicalclinic.com.

The rest is here:
Heat up your love life this winter with this new treatment for E.D. - KSTU FOX 13 Salt Lake City

Recommendation and review posted by Bethany Smith

Once you know what youre up against, there are some easy ways to help manage thinning hair at home or with the help of an expert. Here are the top tips we learned from dermatologists and hair stylists on how to protect your hair and restore some of its fullness and shine.

1. Wash and condition regularly, but not too frequently.

You likely dont need to wash your hair every day. In fact, Samantha DelaFuente, a stylist at Marie Robinson Salons in New York and Miami, tells SELF that she recommends washing only two or three times a week. Dont be afraid of dirty hair, she says.

And dermatologists agree: Washing too often strips your hair of necessary oils, and washing infrequently can leave hair dull and limp, especially if you overuse dry shampoo, Dr. Bridges says. If you have natural hair, which tends to be drier and more prone to breakage, clean it even less frequently, Dr. Khetarpal says.

Moisturizing shampoos formulated without sulfateschemicals in shampoos that help clean but can also be drying on sensitive or dry scalpsare a safe bet for everyone. In particular, celebrity stylist Tym Wallace tells SELF he recommends Oribe Gold Lust Repair & Restore Shampoo ($154, Bloomingdales or Moroccanoil Moisture Repair Shampoo ($24, Nordstrom).

2. Always follow shampoo with conditioner.

Conditioner gives your hair shine and reduces static electricity, the AAD explains, which is why it improves the look and feel of dull or damaged hair. Apply to the ends of the hair and work your way up, DelaFuente says. A little goes a long way; the more conditioner you use, the flatter your hair will be.

Remove tangles with a wide-tooth comb and rinse with cool water, which closes the cuticle and makes the hair shiny, Dr. Bridges explains.

If youre looking for conditioners that can specifically help dull or thinning hair, Eric Leonardos, stylist at Ted Gibson, tells SELF he recommends Klorane Gel Conditioner with Peony ($20, Ulta), which contains soothing and hydrating ingredients, or Shu Uemura Muroto Volume Conditioner ($58, Shu Uemura), which has a lightweight formula that wont weigh down hair.

3. Finish with a leave-in conditioner or detangler.

After shampooing and conditioning, try using a leave-in product, like a conditioner or detangler, which will boost moisture and provide heat protection before styling.

Wallace recommends the moisturizing and protecting Its a Ten Miracle Leave-In Conditioner Spray Product ($38, Ulta) as well as the truly multitasking Form Multitask 3-in-1 Leave-in Lotion ($32, Form Beauty).

4. Use a conditioning mask to boost your hairs shine.

Once a week, apply a deep conditioning mask for extra moisturizing powers, and leave on for 1520 minutes, Dr. Bridges says. Finish by rinsing with cool water.

Leonardos recommends LOreal Elvive Total Repair 5 Damage-Erasing Balm, which he says lends shine and smooths the hair cuticle ($8, Amazon), and Shu Uemura Ultimate Reset Hair Mask, which he explains imparts a smooth texture and smells divine ($68, Sephora).

DelaFuente swears by Milbon Plarmia Hairserum Treatment ($35, Amazon), which comes in formulas for fine-to-medium and coarse hair, and Christophe Robin Regenerating Mask With Prickly Pear Seed Oil ($71, Sephora), a product thats made without parabens and sulfates, which may be irritating to some sensitive scalps.

On his clients, Wallace uses Moroccanoil Restorative Hair Mask ($43, Amazon), made with moisturizing argan oil and shea butter, or Its a Ten Miracle Hair Mask ($32, Ulta), which is designed to nourish color-treated, heat-styled hair.

5. Air-dry your hair or style it gently.

Rub a small amount of serum through your wet hair before styling or air-drying. In addition to adding shine and combating fly-aways, these products help to prevent frizz.

See the original post here:
Thinning Hair? Here are 8 Ways to Make It Fuller and Shinier - Self

Recommendation and review posted by Bethany Smith

Global Thyroid Hormone Disorder Drug market report is a complete and exclusive study about the landscape structure of Thyroid Hormone Disorder Drug. Initially, it offers us an overview of plenty of topics including global market size and forecast, regional market size, production data, and export & import

Global Thyroid Hormone Disorder Drug market value growth rate from 2018-2025 is portrayed in this well-crafted report. To offer a complete market view and a detailed explanation of the topics, this study is a fragmented explanation of Thyroid Hormone Disorder Drug systems.

Scope:

The scope of the reportspedias report is to analyze the global Thyroid Hormone Disorder Drug market for the forecast period 2017-2025 and offer accurate and unbiased insights to the readers. Thyroid Hormone Disorder Drug manufacturers, suppliers, and stakeholders in the global industry can benefit from the analysis offered in this report.

The techniques used in the making of this excellent report over the concept of Thyroid Hormone Disorder Drug are many. The research is done in several regions throughout the globe covering some of the major regional market sizes and production of countries like North America, Europe, South America, Asia-Pacific and the Middle East and Africa.

Get Exclusively Free Sample Of This Report in PDF @ https://bit.ly/2POghI2019-2025#request_sample

Key companies (manufacturing situations, size and production, product specifications etc.)

Novo NordiskSanofiMerckEli LillyAstraZenecaAbbVie

Segments covered in the report:

By Product Type (Revenue, USD Million, 2014 2025)

InjectionOralOthers

By Applications(Revenue, USD Million, 2014 2025)

HospitalClinicMedical CenterOthers

Ask For Discount On This Report At:Inquiry Before [emailprotected]: https://bit.ly/2POghI2019-2025#inquiry_before_buying

The research study further covers the competitive landscape of the Thyroid Hormone Disorder Drug market across the globe and offer a list of all the leading players operating in the market. The company Potentials customers and stakeholders, market plans, economic survey, SWOT analysis, and recent improvements of the prominent players have been highlighted in the analysis report.

Other industry-related procedures about the Thyroid Hormone Disorder Drug Market, such as a, a nitty-gritty clarification of the manufacturing structure, the monetary foundation of the market, supply and demand dynamics, exchange figures, and production value edges are likewise broken-down in the report. Prime advancement approaches and plans concerning the Thyroid Hormone Disorder Drug market are inspected with respect to their effect available in the gauge time frame.

Geographically, North America, followed by Europe, is expected to hold the largest market due to affordability and accessibility of technology and innovations in Thyroid Hormone Disorder Drug in this region. Growing demographics and economies in developing countries such as India and China is expected to lead the growth of Thyroid Hormone Disorder Drug Market in Asia.

The report also gives a comprehensive analysis of the key players in this market and detailed penetrations on the competitiveness of the players. The key market policies such as mergers & acquisitions, partnerships, collaborations, and contracts adopted by the major players are also identified and examined in the report.

Browse Detailed Table Of [emailprotected] https://bit.ly/2POghI2019-2025#table_of_contents

Link:
Global Thyroid Hormone Disorder Drug Market Complete and Exclusive Report 2014-2025 Size, Share, Price, Trend and Forecast By Types, Applicatiopns and...

Recommendation and review posted by Bethany Smith

A 19-year-old was shocked to discover her temper tantrums and mood swings were a sign of cancer.

Beth Worley, from Bedworth in Warwickshire, started noticing the bizarre symptoms when she was 17.

Adrenaline surges would leave her feeling hot and breathless, make her heart start pounding and make it seem like she was about to faint.

She would become angry or tearful at the drop of a hat and her mother told her she was having toddler tantrums.

It wasnt until doctors diagnosed her with a rare form of nerve cancer in her liver that the reason for the strange events became clear.

She was told she had paraganglioma, which is known to disrupt the hormones and cause spikes in adrenaline, and needed surgery to remove the tumours.

I couldnt control my emotions, Miss Worley said. I would be almost manic one moment, then feeling weepy and irritable the next.

Mum said I was like a toddler having tantrums. It was as if all the normal ups and downs that everyone experiences were magnified 10 times over.

As well as the emotional rollercoaster, Miss Worley also had pain in her abdomen and had been diagnosed with irritable bowel syndrome.

But when she was unable to get rid of the symptoms she went back to the doctor and further tests revealed a year later in 2018, when she was 18 that she had cancer.

Paraganglioma is a cancer made of tumours which grow in nerve cells which are found around the body.

It can develop in various places and most often affects people aged between 30 and 50.

The tumours are usually slow-growing and benign, but they can be dangerous and spread, as Miss Worleys was threatening to do.

Surgeons at Birminghams Queen Elizabeth Hospital decided to operate in March 2019 to remove the tumour from her liver and growths in some nearby glands.

Luckily the cysts in the lymph nodes had contained the malignant tumour and stopped it spreading further, Miss Worley added.

I was in intensive care for six days and it took me a few months to recover as it was such a big operation.

I had been cut open from my chest to my belly but I was determined to get back on my feet again and get back to university.

In around half of patients, paraganglioma tumours produce adrenaline or similar hormones and leak them into the body, according to the Mayo Clinic.

Adrenaline is the hormone which controls the bodys fight or flight response and its main functions are increasing the heart rate and blood pressure.

It also tenses muscles to make them faster to react, dilates the pupils to improve vision and expands the lungs to pull in more air.

These effects can make people feel distressed or on edge and make them sweat, get headaches or have flushed skin.

The best treatment option for paraganglioma is usually surgery to remove the tumour and stop it spreading or causing damage by growing.

Miss Worleys mother, Claire Ingram, said her daughter had been strong throughout the treatment, refusing to give up university and carrying on with her life.

She said: Seeing your child in intensive care with all these tubes coming out of her is so awful, the worst thing for a parent.

But Beth has been absolutely amazing through all of this we are in awe of her.

The doctors wanted Beth to leave university in order to deal with her treatment but she simply refused. She even managed to pass her driving test too.

Grateful for her care, Miss Worley is now backing Cancer Research UKs Right Now campaign, which encourages people to donate, volunteer, fundraise or share their story.

Miss Worley, whose friends and family raised nearly 4,000 at Worcester Race for Life in her honour, said: Now, I want to do everything I can to help raise money and awareness.

Progress in the fight against this devastating disease relies on everyone who raises vital funds.

Jane Redman, a Cancer Research UK spokesperson said: We are so grateful to Beth for showing both the realities of cancer and the positive impact research and improved treatments can have on peoples lives.

We hope our Right Now campaign will inspire people to take action and play their part in beating cancer.

Every action makes a difference and money raised helps to support Cancer Research UKs vital work. Together, we will beat cancer.

See more here:
Teenager's mood swings and 'toddler tantrums' turned out to be cancer in her liver - Infosurhoy

Recommendation and review posted by Bethany Smith

Lakshmipriya has charmed both the silver screen and the mini screen audiences with her incredible acting talent and mesmerizing personality. She has recently published a memoir in which the actress speaks about some of the most painful experiences in her life. A self confessed foodie, Lakshmipriya likes trying out different dishes and cuisines and is passionate about cooking as well. Lakshmipriya is thrilled to talk about her genuine love for food and cooking and reveals her favourite dishes.

Unforgettable flavours

For Lakshmipriya, the taste of the humble theeyal, with roasted coconut paste, made by her beloved grandmother is something that she would never forget. The special palada that her aunt in Alappuzha sends for her is another favourite dish. Lakshmipriya says that this is not the regular palada payasam but a delicious snack made with eggs, all purpose flour, milk, sugar, cardamom powder and ghee. This soft snack that melts in the mouth is something that instantly takes Lakshmipriya back to her childhood.

Cooking

I really love cooking and enjoy it very much. It was only after my marriage that I began experimenting more in the kitchen. Now, I could say that I have become an expert in cooking. I prefer cooking in fresh coconut oil. As I am allergic to wheat, I dont eat foods cooked using it. So, I eat dishes made with rice for most of my meals. I mostly prefer the local dishes and preparations like the traditional matta rice, boiled tapioca with spicy fish curry and some puliserry, says Lakshmipriya.

Flopped biryani

Lakshmipriya recalls her hilarious first attempt at cooking biryani. She had even bought a brand new uruli (brass vessel) to prepare her special biryani. She followed the recipe to a tee and even prepared a dum using the all purpose flour mix and hot coals. The recipe book said that the biryani should be cooked on dum for at least 40 minutes. However, she didnt realize the fact that each variety of rice requires different cooking time. After 40 minutes, to the utter disappointment of the actress, her biryani was all burned up with the rice and the chicken pieces reduced to charred bits. She says with a smile that no one could taste her special and extravagant biryani which she had prepared by adding even the exquisite saffron. However, Laskmipriya was determined to try cooking biryani until it became a grand success. After trying for quite a few times, she understood the nuances of dishing up a perfect plate of biryani. Now, Lakshmipriya is an expert in cooking amazing biryani and her family and friends vouch for that. Lakshmipriyas tasty biryani has now become a must for all the special occasions and functions in the family.

Dieting

I can easily put on or lose weight. But, my weight exceeded all limits when I was pregnant with my daughter. From sixty kilos I jumped to a whopping eighty kilos. I was undergoing hormone treatments too at that time. So, that added to my weight woes and it was very difficult for me to shed all those kilos. I started losing weight after I began attending the sessions at the Smart Exarco Wellness Clinic in Kochi. More than work outs, I reduced weight by following a healthy and balanced diet, reveals Lakshmipriya.

At the wellness clinic, they advised the actress to eat food in smaller portions every two and half hours. Except sweet, she was allowed to eat everything including rice, ghee, fruits, vegetables, nuts, seeds, yoghurt, buttermilk, fish and chicken. Lakshmipriya says that this healthy diet had reduced hair fall and added a youthful glow to her skin as well. Earlier, I was crazy about work outs and exercises, but now, I am not that interested. Besides, I am not as huge as you see me on screen, laughs Lakshmipriya.

Go here to see the original:
Actress Lakshmipriya's love for food and the tale of a burned biryani - Onmanorama

Recommendation and review posted by Bethany Smith

PHILADELPHIA -- One out of eight couples has trouble conceiving, with nearly a quarter of those cases caused by unexplained male infertility. For the past decade, research has linked that infertility to defective sperm that fail to "evict" proteins called histones from DNA during development. However, the mechanisms behind that eviction and where this is happening in the sperm DNA has remained both controversial and unclear.

Now, researchers at Penn Medicine show, using newer genome-wide DNA sequencing tools, the precise genetic locations of those retained histones, as well as a key gene regulating it. The findings were published in Developmental Cell.

Taking it a step further, the researchers created a new mouse model with a mutated version of the gene, Gcn5, which allows investigators to closely track the defects in sperm from the early stages of sperm development through fertilization and on. This is an important step forward as it could lead to a better understanding of not only infertility in men -- and ways to potentially reverse it -- but also the suspected epigenetic mutations being passed onto the embryo from males either naturally or through in vitro fertilization.

Epigenetics, the factors influencing an organism's genetics that are not encoded in the DNA, play a strong role in sperm and egg formation.

"For men who have unexplained infertility, everything may look normal at the doctors: normal semen counts, normal motility. Yet they can still have problems conceiving," said first author Lacey J. Luense, PhD, a research associate in the lab of study senior author, Shelley L. Berger, PhD, the Daniel S. Och University Professor in the departments of Cell and Developmental Biology and Biology, and director of the Penn Epigenetics Institute. "One explanation for persistent problems is histones being in the wrong location, which may affect sperm and then early development. Now, we have a really good model to study what happens when you don't get rid of the histones appropriately in the sperm and what that may look like in the embryo."

Healthy sperm lose 90 to 95 percent of histones, the main proteins in chromatin that package DNA and turn genes on and off, and replace them with protamines, which are smaller proteins able to properly pack the DNA into tiny sperm. Given the role of retained histones in infertility and embryonic development, there is great interest in determining the genomic locations so they could potentially be utilized for further study and ultimately treatment.

Past studies have produced conflicting results on the whereabouts of histones. A technology known as MNase-sequencing that uses an enzymatic reaction to pinpoint location has placed the retained histones on important gene promotors. Other studies with the same approach found histones at DNA repeats and placed in so-called "gene deserts," where they play less of a role in regulation.

"There has been controversy in the field trying to understand these discrepant data," Luense said. "In this new study, we found that both of these previously described models are correct. We find histones on genes that appear to be important for embryo development, but we also find them at repetitive elements, places that do need to be turned off and to prevent expression of these regions in the embryo."

The researchers applied a technology known as ATAC-sequencing, a more precise and faster approach, to track waves of histones at unique sites across the genome during the early and late stages of sperm development in mice. ATAC-seq can identify parts of the genome open and closed -- in this case, regions that retain the sperm histones -- and then make a cut and tag the DNA, which can then be sequenced.

In the mouse models created with the mutated Gcn5 gene, the researchers found these mice to have very low fertility. The researchers also showed that retained histones in normal mice sperm correlated with histone positions in very early embryos, supporting the hypothesis that paternal histones transfer epigenetic information to the next generation.

Having this type of mutant model gives scientists a tool to closely study the mechanisms underlying the mutated sperm's trajectory and understand what effect it may have on the embryo and in development. It also opens an opportunity to study potential therapeutic targets.

"Right now, the burden of IVF and other assisted-reproductive technologies fall on women. Even it's the male factor, it's still women who have to go through hormone injections and procedures," Berger said. "Now imagine being able to apply epigenetic therapeutics to change the levels of histones and protamines in males before embryogenesis? That's one of the questions we want to explore and this model will allow us to move toward that direction."

There are numerous available epigenetic drugs used to treat cancer and other diseases. Given their mechanisms, treating sperm with drugs to increase histone eviction is one potential route to explore.

Limitations with human embryos in science have led to a lack of overall research on infertility and the role of the father's epigenome on embryo development, which underscores the importance of studies such as this, the researchers said.

"There are a lot different factors that can alter the sperm epigenome: diet, drugs, alcohol, for example," Luense said. "We are just now starting to understand how that can affect the child and affect development. These initial, basic studies that we are doing are critical, so we can better understand what's driving these epigenetic mutations."

Read the rest here:
Penn researchers uncover defective sperm epigenome that leads to male infertility - Science Codex

Recommendation and review posted by Bethany Smith

As a 30-year-old, Caroline Henaghan was busy. She was working for the UKs Home Office while training to be a barrister, and wondered if the frequent stress and anxiety she was experiencing were just products of overwork and getting older. It felt like getting on a hamster wheel and not being able to get off, she recalls.

Eventually work got to be too much and she took an uncharacteristic short leave of absence. But Henaghans mood didnt improve. She woke up each morning with enormous anxiety, leading to social withdrawal. I would essentially do a disappearing act so I wouldnt have to be around people, she says. She was never suicidal, she stresses. But she did fantasise about leaving things behind. It would be a case of if I could go to sleep and never wake up. Thats how dramatic it was for me.

Though the psychiatric symptoms were the strongest, there were odd physical patterns as well. Henaghan would get bloated and fatigued, sleep excessively, and as a keen gardener shop erratically, for instance buying plants that were out of season. Her family noticed her increasingly strange behaviour as well. She thought it might be bipolar disorder, given the cyclical nature of her ups and downs. For instance, she might spend two weeks each month putting right the damage from the previous week: the fights with loved ones, the untidy home, the slippages at work. Eventually, after what she calls a mini-breakdown, she realised that the recurrence of all these symptoms was linked to her menstrual cycle.

Her doctors dismissed her concerns. She visited five GPs, all male, after the first one commented: Oh, its just PMS. My wife gets that.

But it wasnt just premenstrual syndrome (PMS). Henaghan had to do what many women overlooked by the medical establishment do: her own research. Through her online study, she learned about a condition called premenstrual dysphoric disorder (PMDD).

You might also like:

How the menstrual cycle changes womens brains The effect of childbirth no-one talks about The sexist myths that wont die

PMDD is much more intense than its better-known relative, PMS, with physical symptoms including fatigue and migraines, while the psychological symptoms can include the severe mood swings and anxiety that plagued Henaghan. The disorder can be so debilitating that 15% of those with PMDD have attempted suicide, and some young women affected are opting for hysterectomies.

Read the rest here:
The overlooked condition that can trigger extreme behaviour - BBC News

Recommendation and review posted by Bethany Smith

A memorial has been held for a German teenager who was murdered in Northern Ireland more than thirty years ago.

The body of Munich teenager Inga Maria Hauser was found dumped in a remote part of Ballypatrick Forest, outside Ballycastle, Co Antrim, 14 days after she was last seen alive on a ferry from Scotland.

The 18-year-olds death in April 1988 remains one of the regions most high-profile unsolved murders.

A tribute was paid to Ms Hauser on Saturday at the spot where her body was found.

Mourners laid a Christmas wreath and German flag at the memorial plaque dedicated to her.

Phoenix Law solicitor Claire McKeegan, who attended the memorial, tweeted: Our thoughts are with the Hausers who are pressing the @thePPSNI for a decision on the suspect file. #justiceforINGA.

Last year, on the 30th anniversary of the crime, detectives said they believed a number of people may have been involved either directly in the murder or in the subsequent cover-up, and said they only need fractional pieces of evidence to bring the chief suspects to justice.

Detectives investigating the killing have passed an evidence file on a 59-year-old suspect to the Public Prosecution Service (PPS). The PPS have yet to decide whether there are grounds to prosecute the man.

He was originally arrested in connection with the murder last May and later released on bail pending further inquiries.

Police have a male genetic profile found at the murder scene.

A number of years ago, in one of the largest DNA screenings undertaken in the UK, 2,000 samples failed to produce a definitive match.

Ms Hauser had travelled through England and Scotland and, according to diary entries, intended to travel south to Dublin after her ferry docked at Larne, Co Antrim.

For reasons as yet unexplained, she ended up going in the opposite direction and was found dead in remote woodland two weeks later.

It is understood the IRA carried out its own investigation into the killing 30 years ago.

It is believed republican paramilitaries had considered passing information about the alleged murderer to the RUC at the height of the Troubles, but did not follow through.

Keep up-to-date with all the very latest news, what's on, sport and everything else in Belfast and beyond with the Belfast Live app.

Only select news that interests you by picking the topics you want to display on the app's homepage. Plus, our enhanced user experience includes live blogs, video, interactive maps and slick picture galleries. Download it now and get involved.

Click here to get it from the App Store or here for Google Play .

Read the rest here:
Inga Maria Hauser memorial held as those involved in death continue to avoid justice - Belfast Live

Recommendation and review posted by Bethany Smith

Dr Leigh estimates two-thirds of the Wollemi-Hawkesbury koala population has been lost, along with the decimation of several other koala populations around the state.

Loading

Volunteer rescuers included experienced State Emergency Service workers and a specialised climbing team that was called in from Victoria. In total, three males and five females, along with four joeys, were saved.

"We put in some very long hours and we're delighted we've got a good ratio of males and females, and also some joeys," Dr Leigh said.

Koalas are a threatened species and vulnerable to extinction across most of their range inAustralia .

Dr Leigh said that although they were a once-thriving community of 3 to 4 million animals, koala numbers are now as low as 300,000 - the World Wildlife Fund have said that koalas could be extinct in NSW by 2050.

"Saving each and every koala population is vital to the species' survival, she said.

In total, three males and five females, along with four joeys, were rescued.Credit:Taronga Zoo

"We just thought it was really critical even though we got a relatively small number. We just needed to do something and we've done the best we can."

The koalas are being cared for behind-the-scenes by the Taronga Wildlife Hospitals veterinary team and Taronga koala keepers until it is safe to release them back to the wild.

"We are committed to caring for these important koalas to ensure some of this vital genetic diversityfrom the Blue Mountains can be preserved and that the future of this iconic species is secured, saidNick Boyle, Taronga Conservation Societys director of welfare, conservation and science.

"This weeks forecast has multiple days above 40 degrees in western Sydney with gusty andchangeable winds, so it was important that we rescued these animals from impending danger."

Matt Bungard is a journalist at The Sydney Morning Herald.

Original post:
Handful of Blue Mountains koalas successfully relocated to Taronga Zoo - Sydney Morning Herald

Recommendation and review posted by Bethany Smith

Written by Divya Goyal | Ludhiana | Updated: December 17, 2019 11:14:13 am Union Minister for animal husbandry, dairying and fisheries Giriraj Singh said that the plan is to provide dairy farmers with sexed semen for cattle for as cheap as Rs 100 per straw by 2020.

During the recently held 14th Progressive Dairy Farmers Association (PDFA) International Dairy and Agri Expo 2019 at Jagraon, Union Minister for animal husbandry, dairying and fisheries Giriraj Singh had said that the plan is to provide dairy farmers with sexed semen for cattle for as cheap as Rs 100 per straw by 2020. The Indian Express explains the technology behind sexed semen pioneered by the United States, how and when it entered Punjab and if it can help in solving the stray cattle problem:

What is sexed semen, and what is the technology behind it?

Sexed semen is specially processed semen of bulls from which Y chromosomes in sperm cells which lead to the birth of a male calf are either removed through a sorting process or killed. Semen which has only X chromosomes can ensure that a female calf is born.

Dr Prakash Singh Brar, dean, College of Veterinary Sciences, Guru Angad Dev Veterinary and Animal Sciences University (GADVASU), said, The reproduction system of cattle is similar to humans. Cows carry XX chromosomes while bull semen carries both X and Y. If the egg fertilises with an X chromosome, a female calf is born and if with Y, a male is born. There are two techniques to produce sexed semen: One is the sorting process in which X and Y chromosomes are separated. X are retained and Y discarded. The other is in which Y chromosomes are altogether killed. Both technologies are pioneered by the United States-based companies and use an instrument called Flow Cytometer. Cows are impregnated using sexed semen through the artificial insemination process with consumption of one straw per cow.

Why is this method being used?

Considered a financial burden, male calves are either killed or abandoned on the roads by farmers as they do not give milk. This had led to an increasing number of cattle roaming the streets, which has caused fatal road accidents as well. Cows are also abandoned when they stop giving milk. If a commercial farmer owns a hundred cows and even fifty of them give birth to male calves, he cannot afford to raise them. They become a burden, said an expert.

Who pioneered the semen sorting technology and its large scale application on cattle?

George E. Seidel, a reproductive physiologist at Colorado State University (CSU) in the US is credited for his pioneering research in the sorting process. According to one of his interviews, some original research had taken place in the 1980s at the Lawrence Livermore National Laboratory in California and their studies of sperm led to discoveries regarding differences between sperm cells carrying X or Y chromosomes. However, for cattle, it was in the late 1990s that Seidel and his team at CSU developed a process for creating sex-sorted cattle semen for freezing and use in artificial insemination and also got patent rights. Through the CSU Research Foundation, they formed a company, XY Inc., which was later sold to Sexing Technologies (ST), based in Texas.

The sperms are pumped through a Flow Cytometer (cell sorter) in tubing past a detector that measures the brightness of individual sperm exposed to laser light. That information is processed by the computer and used to sort sperm, one at a time, at a rate of about 25,000 sperm/second, reads Seidels research paper titled Sex-selected semen.

Currently, ST has rights over semen sorting technology and it installs the entire set-up after taking the royalty amount, said Dr Inderjeet Singh, director, animal husbandry, Punjab and additional CEO, Punjab Livestock Development Board.

After ST, another US-based company ABS Global (formerly American Breeding Services) came up with a cutting edge technique that kills Y chromosome, he added.

Does sexed semen have a 100 per cent success rate?

No, the guarantee of a female calf being born is never 100 per cent. It can be up to 90 per cent. In 10 per cent cases, a male calf might be born despite using sexed semen because even after sorting/killing, some Y chromosomes may pass, said Dr Brar.

The pregnancy rate with sexed semen also reduces as sperm count goes down after sorting or killing. While one straw of conventional semen contains 10-20 million sperms, the count is down to 2-4 million only in sexed semen straws (0.25 ml each). So, while conventional semen will impregnate 60-70 animals out of 100, the rate is 45 to 50 with sexed semen, said Dr Narinder Singh, assistant animal physiologist, GADVASU.

How did sexed semen enter Punjab for farmers? When did the government start procuring and giving it on subsidy?

It was in 2008 that the Progressive Dairy Farmers Association (PDFA), the largest association in Punjab with more than 7,000 registered commercial dairy farm owners, had first imported sexed semen from the US. They have been doing it every year since then. Daljit Singh Sadarpura, president, PDFA, said, We first imported 25,000 sexed semen straws in 2008 from the US. The success rate is better on heifers than adult cows. Since then we are regularly importing it from the US and this year we gave it for Rs 1,500 to 1,700 per straw including transportation cost. Currently, very few rich farmers use it, he said.

In December 2011, the Punjab government imported 5,000 straws followed by 6,280 straws in 2014 and 25,000 straws in 2016- all from the US. Till August last year we were giving straws to farmers on 50 per cent subsidy, so a straw costing Rs 1,200 ($16-17 each) was being given for Rs 600. However, later the subsidy was reduced and it was being given for Rs 1,000. Now we have again proposed more than 75% subsidy and it might be given for Rs 300 only. We have floated tenders to procure sexed semen this year too, says Dr Inderjeet Singh.

How costly is sexed semen compared to conventional ones?

High quality conventional semen straws are available for just around Rs 20-40 per straw only whereas sexed semen costs at least Rs 1,200 per straw without subsidy. It is a costly affair till manufacturing does not start in Punjab itself and currently it is at least 60 times costlier than conventional semen, said Dr Narinder Singh.

Can sexed semen be used for indigenous cattle and buffaloes?

Dr Prakash Singh Brar from GADVASU said, In the 1960s, we bred our indigenous cows with foreign breeds to increase milk production but now governments focus is on promoting pure indigenous breeds. Cross-breeding can be done but it is not highly recommended. Sexed semen units are currently more focused on foreign breeds like Holstein Friesians (HF) and cross-bred bulls and sexed semen is mostly used on HF or cross-bred cows only. It can be produced for indigenous cow breeds like Sahiwal, Gir and also buffaloes like Murrah but in Punjab, majority farmers own foreign cross-bred cattle and problem of abandoning or killing male calf lies with cross-bred not indigenous cattle.

How can sexed semen solve the stray cattle problem in Punjab?

According to the latest Livestock Census 2019 data, there are 25.32 lakh cattle in Punjab of which only 4.26 lakh are indigenous breeds.

It is mostly foreign or cross-bred like HF and Jersey bulls and non-lactating cows which are abandoned by farmers on roads. If a male calf is born, it is also abandoned or killed. Farmers rarely abandon indigenous breeds. If sexed semen is used widely for cross-bred, stray cattle problem might be solved to some extent, says Dr Brar. Over one lakh stray cattle is on roads in Punjab approximately.

If only female calves will be born, can it lead to semen shortage?

No, say experts. We need a controlled male population with high quality genetic potential and they are being bred at semen stations. Semen is frozen and supplied to farmers. Controlled male population is enough to meet semen demand, said Dr Brar.

Sexed semen assures 90 per cent female births not 100 per cent. Also, it wont be possible to cover entire cow population with sexed semen so male births will be there anyway, says Dr Inderjeet Singh.

Is Giriraj Singhs statement to provide farmers with sexed semen Rs 100 per straw viable?

Experts are clueless on the calculation used by the minister here. Even if manufacturing starts in Punjab, initial project installation will cost crores. According to our initial estimates, we might have to pay royalty of $13 per straw (Rs 900 approx) to the operating company. Providing it to farmers for just Rs 100 seems too far-fetched as of now even if 50 per cent subsidy is given, said an official.

Dont miss from Explained: Why onion prices are still high and unlikely to cool down anytime soon

For all the latest Explained News, download Indian Express App

Read the original here:
Explained: What is sexed semen and how does the technology work? - The Indian Express

Recommendation and review posted by Bethany Smith

TMRR in its latest research report states that the global market size of Male Hypogonadism market was $XX million in 2018 with XX CAGR from 2014 to 2018, and is expected to reach $XX million by the end of 2029 with a CAGR of XX% from 2019 to 2029.

Global Male Hypogonadism Market Report 2019 Market Size, Share, Price, Trend and Forecast is an intuitive and exhaustive study on the current and future prospects of the global Male Hypogonadism industry. The key insights are elucidated as under:

Request Sample Report @ https://www.tmrresearch.com/sample/sample?flag=B&rep_id=1127&source=atm

There are 4 key segments covered in this report: machine segment, product type segment, end use segment and regional segment.

Competitive landscape of Male Hypogonadism market has tier 1, tier 2 and tier 3 players and provides a dashboard view of their strategies and intensity mapping.

Trends and Opportunities

The top driver of the male hypogonadism market includes rising prevalence of testosterone deficiency among men, increasing infertility rates, and increasing awareness among individuals about hypogonadism treatment due to awareness drives organized by several governments across the world. Moreover, high risk of hypogonadism among the geriatric population with obesity and diabetes, and increasing prevalence of chronic disorders among the geriatrics are further expected to boost the markets growth.

However, factors such as high side effects of testosterone products are challenging the growth of testosterone replacement therapy market. Top players in the market are focused on research and development to introduce newer products with fewer or negligible side effects and improved results. For example, LPCN 1111, a product which is under development from Lipocine Inc., is a newer testosterone prodrug that utilizes Lipral technology for enhanced systemic absorption and for enhanced solubility of testosterone. Nevertheless, technological advancements are anticipated to extend new opportunities to the markets growth.

Global Male Hypogonadism Market: Regional Overview

The global male Hypogonadism market can be analyzed with respect to the regional segments of North America, Asia Pacific, Europe, Latin America, and the Middle East and Africa. North America held the majority share of the global market in the recent past and is expected to retain its dominant position in the near future. This is mainly due to the rise in the number of individuals suffering from primary and secondary conditions of hypogonadism, and rising awareness among individuals about treatment options for the condition. Moreover, the presence of ultra-modern healthcare infrastructure and increasing popularity of technologically advanced products are expected to offer new opportunities for top players in this market. The region is closely followed by Europe.

Asia Pacific is expected to offer lucrative opportunities to this market due to the modernization of the healthcare infrastructure in the emerging economies of India and China and the increasing awareness about the treatment for the condition. In Asia Pacific, the increasing prevalence of hypogonadism and infertility rates along with the rising geriatric population base with diabetes and obesity are propelling the growth of this market. China, Taiwan, and Malaysia are some of the countries that display the highest rate of male hypogonadism.

Major Companies Mentioned in Report

Some of the key players in the male Hypogonadism market include AbbVie Inc., Astrazeneca plc, Eli Lilly and Company Ltd., Merck & Co. Inc., SA, Finox Biotech, Laboratories Genevrier, Teva Pharmaceutical Industries Ltd., Allergan plc, Bayer AG, Endo International plc, IBSA Institut Biochimque, and Ferring.

Key players are focused on product approval for growth considerations and to cater to the changing demand of the industry. The introduction of innovative and technologically advanced products is also the focus of key players to increase their market share and for serving patients in a better manner.

Customize This Report @ https://www.tmrresearch.com/sample/sample?flag=CR&rep_id=1127&source=atm

For regional segment, the following regions in the Male Hypogonadism market have been covered

Reasons to Purchase this Report:

We also can offer customized report to fulfil special requirements of our clients. Regional and Countries report can be provided as well.

Reports are available at concessionary rates. Hurry to avail offer!

Request For Discount On This Report @ https://www.tmrresearch.com/sample/sample?flag=D&rep_id=1127&source=atm

See the rest here:
Ascending Demand for Male Hypogonadism to Propel the Growth of the Male Hypogonadism Market Between 2018 - 2028 - Markets Gazette 24

Recommendation and review posted by Bethany Smith

Annet Negesa had just finished training in Kampala, Uganda, in June 2012 when she received a call from a doctor from track and fields world governing body. He told her that she would no longer be competing in the London Olympics because her testosterone levels were too high for competition.

I went back into the house and started crying, she recalled.

Negesa was 20 at the time and one of the top athletes in her country, a promising middle-distance runner who had set a national record for 800 meters earlier in the year at a meet in Hengelo, the Netherlands. She was a three-time national champion and took home a gold medal at the 2011 All-Africa Games. The Uganda Athletics Federation named her athlete of the year.

World Athletics, formerly the International Association of Athletics Federations, or I.A.A.F., track and fields world governing body, did not catch Negesa using performance-enhancing drugs. Rather, she is an intersex athlete.

She identifies as female and was born with external female genitalia but also with internal male genitalia that produce levels of testosterone that men do. According to sports officials, that gave her an unfair advantage over most women in some events.

What makes Negesa different from so many other intersex athletes is that she tried to alter her body with surgery so she could continue to compete. Negesa claims that a doctor for World Athletics recommended the surgery. The federation denies this.

For seven years, Negesa, 27, refused to speak about what happened. But time did little to assuage her grievances.

Now I see my body as different, very, very different, she said. I dont know how to talk about it.

The years since the surgery have been a struggle. Negesa has battled persistent headaches and achy joints. Her postoperative care, she said, has not included the kind of hormone treatment that might have helped her body adjust to the change.

What happened to Annet is dangerous, and happened because she wanted to compete, said Payoshni Mitra, a researcher and activist on gender and sports who has lectured on the topic of intersex athletes.

For the past decade, Mitra has stood alongside numerous athletes with naturally high testosterone levels, including Caster Semenya, the South African middle-distance champion, and Dutee Chand, the Indian sprinter. Negesas case, however, was one of the most difficult ones for Mitra to reconcile because Negesa opted to have surgery.

For years, World Athletics has struggled to create rules that maintain a level playing field for the overwhelming majority of women with only female genitalia without impinging on the human rights of intersex people, who account for roughly one in every 2,000 births. A study this year found that female athletes with male testosterone levels are overrepresented in womens middle-distance races.

World Athletics, in a decade of research, found that nearly seven in every 1,000 elite female athletes are intersex athletes with levels of testosterone within the male range. Some endocrinologists have concluded it remains unclear whether high testosterone gives athletes a competitive edge, but many scientists believe it does.

After years of litigation, the Court of Arbitration for Sport in May upheld World Athletics testosterone restrictions for female athletes in races with distances from 400 meters to the mile. The court ruled by a 2-to-1 vote that the restrictions were indeed discriminatory but also a necessary, reasonable and proportionate means of achieving the World Athletics goal of preserving a level playing field in womens track events.

Most women, including elite female athletes, have natural testosterone levels of 0.12 to 1.79 nanomoles per liter, World Athletics said, while the typical male range after puberty is much higher, at 7.7 to 29.4 nanomoles per liter.

Intersex athletes who want to participate in middle-distance womens track events must take hormone-suppressing drugs and reduce testosterone levels below five nanomoles per liter for six months before competing, then maintain those lowered levels.

But Negesa, the eldest of nine siblings raised in a village in Jinja, Uganda, southeast of the Nile, had a much more invasive intervention after she learned in 2012 that she could not compete.

She said a World Athletics physician, Dr. Stphane Bermon, told her she needed to undergo medical treatment and was given surgery as her first option: a gonadectomy to remove her internal testes.

I love my sport so much, thats why I decided to go for the surgery, she said in a recent video interview from Germany, where she now lives.

After Negesa appeared in a documentary on German televisions ARD network in October, World Athletics issued a statement denying that it participated in or recommended a specific treatment to Negesa.

Dr. Bermon has never met the athlete in question and was not at either the consultation in Nice nor the surgery she speaks of in Uganda, the statement said. Through a World Athletics spokesman, Dr. Bermon declined to comment.

Negesa said she traveled alone to Nice for medical tests soon after learning she could not compete. She recalled having her body measurements taken by two doctors who spoke in French. Negesa speaks Swahili and English.

It was so weird, she recalled. I was shy.

She returned to Kampala for treatment, and paid $900 for the procedure.

On the morning of her surgery in Kampala, she had little knowledge of what she was about to undergo. Doctors had told her that it was a simple surgery and that she would return to competition in a few weeks.

I woke up in the morning feeling cuts on my body, she said. I felt so scared. I didnt know that I was going to be cut open.

She hasnt returned to the sport and has suffered from depression and joint pain since the operation.

Negesas medical records from the Womens Hospital International & Fertility Centre in Kampala were reviewed by The New York Times and confirm that World Athletics, then known as the I.A.A.F., recommended a thorough medical examination, citing the high levels of testosterone in her body. The report states that after her testing in Nice she had a gonadectomy in Kampala. The document states that her surgeon in Kampala, Dr. Edward Tamale Sali, did not start her on hormone therapy because he was awaiting further discussion with Dr. Bermon.

Dr. Tamale Sali declined to comment.

In 2013, Dr. Bermon, now director of the World Athletics health and science department, published a report citing four unidentified athletes from developing countries who were referred to hospitals in France for naturally high testosterone levels.

I think I was the first one, Negesa said of the four athletes cited in the study. She said Dr. Bermon was the World Athletics official who first called her in 2012.

After Negesas appearance in the German documentary in September, 25 French athletes wrote to World Athletics, the International Olympic Committee and the minister of sports and health calling for an investigation.

The French minister of sports and minister of health opened a joint investigation in October.

In its statement, World Athletics said it does not advise athletes on preferred treatments and did not do so in this case. The global federation has never forced any athlete affected by its regulations to undergo surgery, nor paid for any of their treatment.

In March, the United Nations Human Rights Council condemned World Athletics attempt to regulate female athletes testosterone levels. And in May the World Medical Association advised physicians around the world to abstain from implementing the new regulations.

They are assigned female at birth and have grown up to have a female gender identity, so theres no question that they belong in that category, said Katrina Karkazis, a fellow at Yale Universitys Global Health Justice Partnership.

Negesa said that returning home, where L.G.B.T. individuals are openly condemned, would lead to imprisonment or death.

She filed for asylum in Berlin in September, and was granted it this month.

She runs every day, with the hope of one day returning to international competition. Her next step, though, is litigation. I need to take them to court, she said of World Athletics, for violating my human rights.

See more here:
This Intersex Runner Had Surgery to Compete. It Has Not Gone Well. - The New York Times

Recommendation and review posted by Bethany Smith

Case Presentation

A 56-year-old white woman with a history of fibromyalgia and anxiety presentsto her primary care physician (PCP) for follow-up to review abnormal laboratoryfindings. During her visit she mentions worsening digestive problems includingbloating and frequent diarrhea. The patient denies abdominal pain, nausea, andvomiting. Her digestive symptoms began approximately 3 years ago and have waxedand waned in severity. She believes certain foods intensify her symptoms but cannotpinpoint exactly which foods are the triggers.

The patient is not on any long-term prescription medications but occasionally takes an antacid. She recently finished courses of trimethoprim and sulfamethoxazole for a urinary tract infection.

Upon physical examination, the patients abdomen is extremelydistended with hyperactive bowel sounds and hyper-resonance with percussion inall 4 quadrants. The abdomen is non-tender to palpation and the spleen andkidneys are non-palpable. Neitherpulsatile mass nor ascites are present.

Laboratory tests are ordered: white blood cell count is 4.3 K/L andlymphocytes are 1.2 K/L. The patients calcium level is 10.3 mg/dL, but wasreduced to 9.7 mg/dL following correction of albumin of 4.8 g/dL. Vitamin D25-hydroxy is 20.9 ng/mL. Additional tests were within normal limits.

Differential diagnoses include antibiotic-induced Clostridium difficile colitis, food intolerance, irritable bowel syndrome (IBS), diverticulitis, and inflammatory bowel disease.

Additional tests are ordered, including thyroid-stimulating hormone, antinuclearantibody, erythrocyte sedimentation rate, and C-reactive protein, which are allwithin normal range. Stool guaiac and culture are also negative, ruling out C difficile infection.

The patient is referred to gastroenterology for further testing.Gallbladder ultrasound was normal with no stones or sludge identified in thegallbladder lumen. Endoscopy and colonoscopy images and biopsies wereunremarkable.

The patient is then referred to an allergist. Food allergy testing wasnegative. The patient was instructed to try a dairy-free diet for 1 month andsubsequently a gluten-free diet for 1 month. The patient did not experiencerelief from either elimination phase diets.

The patient returned to her PCP and was told she likely suffered fromdiarrhea-predominant irritable bowel syndrome (IBS-D); her demographics as a womanwith fibromyalgia and anxiety and recent antibiotic use made the diagnosis evenmore likely. However, no specific test was performed to confirm the diagnosis.

See more here:
Battle of the Bloat: What is the Right Rx for IBS? - Clinical Advisor

Recommendation and review posted by Bethany Smith

Doctors issue open letter to the Australian government: Julian Assange at risk of death in prison 17 December 2019

The following open letter has been issued to the Australian government by Doctors4Assange on behalf of more than 100 signatories. The letter and accompanying addendum has been published on Medium and medical doctors can add their name to the current list of signatories by contacting Doctors4Assange@gmail.com

To: Australian Minister for Foreign Affairs, the Hon Marise Payne

CC: Shadow Minister for Foreign Affairs, the Hon Penny Wong

Prime Minister of Australia, the Hon Scott Morrison

Leader of the Opposition, the Hon Anthony Albanese

16 December 2019

Dear Minister,

RE: MEDICAL EMERGENCYMR JULIAN ASSANGE

We, the undersigned medical doctors, wrote to the UK Home Secretary on 22 November 2019, and to the Lord Chancellor and Secretary of State for Justice on 4 December 2019, expressing our serious and unanimous concerns that an Australian citizen, Mr Julian Assange, is at risk of death due to the conditions of his detention in a UK prison.

Our open letter received worldwide media coverage and we received letters of support from doctors and others around the world. Now, having received no response from the UK Government, we call upon you to intervene as a matter of urgency. As Australian Minister for Foreign Affairs, you have an undeniable legal obligation to protect your citizen against the abuse of his fundamental human rights, stemming from US efforts to extradite Mr Assange for journalism and publishing that exposed US war crimes.

The medical imperative to protect Australian citizen Julian Assange cannot be overstated. Our letters to the UK Government have warned of serious consequences if Mr Assange is not transferred immediately from Belmarsh Prison to an appropriate hospital setting, where he can be assessed and treated by a suitably constituted specialist medical team. Mr Assange requires assessment and treatment in an environment that, unlike Belmarsh prison, does not further destabilise his complex and precarious physical and mental state of health.

On 22 November 2019, we warned the UK Home Secretary that if such a transfer were not to take place immediately, there was a real possibility that Mr Assange would die in a UK prison. That assessment of risk was based on publicly available information dating from 2015, provided by medical experts and leading authorities in human rights and international law.

You will recall that the United Nations Working Group on Arbitrary Detention concluded in December 2015 that Mr Assange was being arbitrarily detained by the governments of the UK and Sweden. Crucially, it was made clear at the time that any continued arbitrary detention of Mr Assange would constitute torture. Medical experts have repeatedly advised the UK Government of potentially catastrophic consequences should it fail to facilitate adequate medical care for Mr Assange. As our letters of 22 November 2019 and 4 December 2019 outline, such consequences, including death, would be eminently foreseeable and attributable to the actions and inactions of the UK Government.

On 9 May 2019, UN Special Rapporteur on Torture Professor Nils Melzer interviewed Mr Assange at Belmarsh Prison, accompanied by a medical team. On 31 May 2019, Mr Melzer published his report and condemned the collective persecution of Mr Assange by the UK, Swedish, Ecuadorian and US governments. Mr Assanges health has been seriously affected by the extremely hostile and arbitrary environment he has been exposed to for many years, the expert warned. Most importantly, in addition to physical ailments, Mr Assange showed all symptoms typical for prolonged exposure to psychological torture, including extreme stress, chronic anxiety and intense psychological trauma.

The evidence is overwhelming and clear, the UN Special Rapporteur stated. Mr Assange has been deliberately exposed, for a period of several years, to progressively severe forms of cruel, inhuman or degrading treatment or punishment, the cumulative effects of which can only be described as psychological torture.

On 1 November 2019, Professor Melzer was forced to intervene once more: What we have seen from the UK Government is outright contempt for Mr Assanges rights and integrity Despite the medical urgency of my appeal, and the seriousness of the alleged violations, the UK has not undertaken any measures of investigation, prevention and redress required under international law. He concluded: Unless the UK urgently changes course and alleviates his inhumane situation, Mr Assanges continued exposure to arbitrariness and abuse may soon end up costing his life.

These are extraordinary and unprecedented statements by the worlds foremost authority on torture. The Australian government has shamefully been complicit by its refusal to act, over many years. Should Mr Assange die in a British prison, people will want to know what you, Minister, did to prevent his death.

Lest there be any misapprehension about the reality of the medical risks facing Mr Assange, important underlying medical facts are outlined in the Addendum to this letter. These facts render Mr Assanges continued detention in Belmarsh Prison medically reckless at best and deliberately harmful at worst.

We therefore urge you to insist upon the immediate transfer of Mr Assange from Belmarsh Prison to an Australian university teaching hospital, on urgent medical grounds, so that he can receive the assessment and treatment that he requires. We are aware of statements by Australian Prime Minister Scott Morrison that Mr Assange is not going to be given any special treatment and that Australia is unable to intervene in Mr Assanges legal proceedings. However, the most fundamental human rights of an Australian citizen are being denied by the British government.

We demand that you exercise your diplomatic and legal powers to defend the rights of Mr Assange, as you have done previously for other Australian citizens detained abroad, including Melinda Taylor, James Ricketson, David Hicks and Peter Greste.

Further, Mr Assange must not face extradition proceedings for which he may well be medically unfit. At the case management hearing on 21 October 2019, Mr Assange struggled to answer basic questions regarding his name and date of birth, a potentially ominous sign with respect to his cognitive functioning and his state of health.

That we, as doctors, feel ethically compelled to hold governments to account on medical grounds speaks volumes about the gravity of the medical, ethical and human rights travesties that are taking place. It is an extremely serious matter for an Australian citizens survival to be endangered by a foreign government obstructing his human right to health. It is an even more serious matter for that citizens own government to refuse to intervene, against historical precedent and numerous converging lines of medical advice.

We are reliably advised that it is a well-established principle of international lawand of Australian law recognised by its own courtsthat if a countrys citizens face improper treatment, persecution, and human rights violations, they may be the subject of diplomatic action, at that sovereign powers discretion, to protect its citizens abroad. The Australian government must exercise that discretion and request from Britain the safe passage of Mr Assange to Australia, to protect Mr Assange and the rights of all Australian citizens.

We hope that this letter has helped to clarify the reality and urgency of the medical crisis facing your citizen, Mr Assange. We urge you to negotiate Julian Assanges safe passage from Belmarsh Prison to an appropriate hospital setting in Australia before it is too late.

As the present matter is of inherent public interest, copies of this open letter will be distributed to media outlets worldwide.

Yours faithfully,

Dr Mariagiulia Agnoletto MD Specialist in Psychiatry ASST Monza San Gerardo Hospital, Monza (Italy)

Dr Vittorio Agnoletto MD Universit degli Studi di Milano Statale, Milano (Italy)

Dr Sonia Allam MBChB FRCA Consultant in Anaesthesia and Pre-operative Assessment, Forth Valley Royal Hospital, Scotland (UK)

Dr Norbert Andersch MD MRCPsych Consultant Neurologist and Psychiatrist, South London and Maudsley NHS Foundation Trust (retired); Lecturer in Psychopathology at Sigmund Freud Private University, Vienna-Berlin-Paris (Germany and UK)

Dr Marianne Beaucamp MD Fachrztin (Specialist) in Neurology & Psychiatry Psychoanalyst and Psychotherapist (retired), Munich (Germany)

Dr Thed Beaucamp MD Fachrztin (Specialist) in Neurology, Psychiatry & Psychosomatic Medicine Psychoanalyst and Psychotherapist (retired), Munich (Germany)

Dr Margaret Beavis MBBS FRACGP MPH General Medical Practitioner (Australia)

Dr David Bell Consultant Psychiatrist and Psychoanalyst, London (UK)

Mr Patrick John Ramsay Boyd (signed John Boyd) MRCS LRCP MBBS FRCS FEBU Consultant Urologist (retired) (UK)

Dr Hannah Caller MBBS DCH Paediatrician, Homerton University Hospital, London (UK)

Dr Franco Camandona MD Specialist in Obstetrics & Gynaecology E.O. Ospedali Galliera, Genova (Italy)

Dr Sylvia Chandler MBChB MRCGP BA MA General Medical Practitioner (retired) (UK)

Dr Marco Chiesa MD FRCPsych Consultant Psychiatrist and Visiting Professor, University College London (UK)

Dr Carla Eleonora Ciccone MD Specialist in Obstetrics & Gynaecology AORN MOSCATI, Avellino (Italy)

Dr Owen Dempsey MBBS BSc MSc PhD General Medical Practitioner (retired) (UK)

Dr H R Dhammika MBBS Medical Officer, Dehiattakandiya Base Hospital, Dehiattakandiya (Sri Lanka)

Dr Tim Dowson MBChB MRCGP MSc MPhil Specialised General Medical Practitioner in Substance Misuse, Leeds (UK)

Miss Kamilia El-Farra MBChB FRCOG MPhil (Medical Law and Ethics) Consultant Gynaecologist, Essex (UK)

Dr Beata Farmanbar MD General Medical Practitioner (Sweden)

Dr Tomasz Fortuna MD RCPsych (affiliated) Forensic Child and Adolescent Psychiatrist, Adult Psychotherapist and Psychoanalyst, British Psychoanalytical Society and Tavistock and Portman NHS Foundation Trust, London (UK)

Dr C Stephen Frost BSc MBChB Specialist in Diagnostic Radiology (Stockholm, Sweden) (UK and Sweden)

Dr Peter Garrett MA MD FRCP Independent writer and humanitarian physician; Visiting Lecturer in Nephrology at the University of Ulster (UK)

Dr Rachel Gibbons MBBS BSc MRCPsych. M.Inst.Psychoanal. Mem.Inst.G.A Consultant Psychiatrist (UK)

Dr Bob Gill MBChB MRCGP General Medical Practitioner (UK)

Elizabeth Gordon MS FRCS Consultant Surgeon (retired); Co-founder of Freedom from Torture (UK)

Professor Derek A. Gould MBChB MRCP DMRD FRCR Consultant Interventional Radiologist (retired): BSIR Gold Medal, 2010; over 110 peer-reviewed publications in journals and chapters (UK)

Dr Jenny Grounds MD General Medical Practitioner, Riddells Creek, Victoria; Treasurer, Medical Association for Prevention of War, Australia (Australia)

Dr Paul Hobday MBBS FRCGP DRCOG DFSRH DPM General Medical Practitioner (retired) (UK)

Mr David Jameson-Evans MBBS FRCS Consultant Orthopaedic and Trauma Surgeon (retired) (UK)

Dr Bob Johnson MRCPsych MRCGP Diploma in Psychotherapy Neurology & Psychiatry (Psychiatric Institute New York) MA (Psychol) PhD (Med Computing) MBCS DPM MRCS Consultant Psychiatrist (retired); Formerly Head of Therapy, Ashworth Maximum Security Hospital, Liverpool; Formally Consultant Psychiatrist, Special Unit, C-Wing, Parkhurst Prison, Isle of Wight (UK)

Dr Lissa Johnson BA BSc(Hons, Psych) MPsych(Clin) PhD Clinical Psychologist (Australia)

Dr Anna Kacperek MRCPsych Consultant Child and Adolescent Psychiatrist, London (UK)

Dr Jessica Kirker MBChB DipPsychiat MRCPsych FRANZCP MemberBPAS Psychoanalyst and Consultant Medical Psychotherapist (retired) (UK)

Dr Willi Mast MD Facharzt fr Allgemeinmedizin, Gelsenkirchen (Germany)

Dr Janet Menage MA MBChB General Medical Practitioner (retired); qualified Psychological Counsellor; author of published research into Post-Traumatic Stress Disorder (UK)

Professor Alan Meyers MD MPH Emeritus Professor of Paediatrics, Boston University School of Medicine, Boston, Massachusetts (United States)

Dr Salique Miah BSc MBChB FRCEM DTM&H ARCS Consultant in Emergency Medicine, Manchester (UK)

Dr David Morgan DClinPsych MSc Fellow of British Psychoanalytic Society Psychoanalyst, Consultant Clinical Psychologist and Consultant Psychotherapist (UK)

Dr Helen Murrell MBChB MRCGP General Medical Practitioner, Gateshead (UK)

Dr Alison Anne Noonan MBBS (Sydney) MD (Rome) MA (Sydney) ANZSJA IAAP AAGP IAP Psychiatrist, Psychoanalyst, Specialist Outreach Northern Territory, Executive Medical Association for Prevention of War (NSW) (Australia)

Dr Alison Payne BSc MBChB DRCOG MRCGP prev FRNZGP General Medical Practitioner, Coventry; special interest in mental health/trauma and refugee health (UK)

Dr Peter Pech MD Specialist in Diagnostic Radiology (sub-specialty Paediatric Radiology), Akademiska Sjukhuset (Uppsala University Hospital), Uppsala (Sweden)

Dr Tomasz Pierscionek MRes MBBS MRCPsych PGDip (UK)

Professor Allyson M Pollock MBChB MSc FFPH FRCGP FRCP (Ed) Professor of Public Health, Newcastle University (UK)

Dr Abdulsatar Ravalia FRCA Consultant Anaesthetist (UK)

Dr. med. Ullrich Raupp MD Specialist in Psychotherapy, Child Psychiatry and Child Neurology; Psychodynamic Supervisor (DGSv) Wesel, Germany (Germany)

Professor Andrew Samuels Professor of Analytical Psychology, University of Essex (recently retired); Honorary/Visiting Professor at Goldsmiths and Roehampton (both London), New York and Macau City Universities; Former Chair, UK Council for Psychotherapy (20092012); Founder Board Member of the International Association for Relational Psychoanalysis and Psychotherapy; Founder of Psychotherapists and Counsellors for Social Responsibility (UK)

Mr John H Scurr BSc MBBS FRCS Consultant General and Vascular Surgeon, University College Hospital, London (UK)

Dr Peter Shannon MBBS (UWA) DPM (Melb) FRANZCP Adult Psychiatrist (retired) (Australia)

Dr Gustaw Sikora MD PhD F Inst Psychoanalysis Fellow of British Psychoanalytic Society Specialist Psychiatrist (diploids obtained in Poland and registered in the UK); Psychoanalyst; currently in private practice (UK and Poland)

Dr Wilhelm Skogstad MRCPsych BPAS IPA Psychiatrist & Psychoanalyst, London, United Kingdom (UK and Germany)

Dr John Stace MBBS (UNSW) FRACGP FACRRM FRACMA MHA (UNSW) Country Doctor (retired), Perth (Australia)

Dr Derek Summerfield BSc (Hons) MBBS MRCPsych Honorary Senior Clinical Lecturer, Institute of Psychiatry, Psychology & Neuroscience, Kings College London (UK)

Dr Rob Tandy MBBS MRCPsych Consultant Psychiatrist in Psychotherapy & Psychoanalyst; Unit Head, Psychoanalytic Treatment Unit, Tavistock and Portman, London; City & Hackney Primary Care Psychotherapy Consultation Service, St Leonards Hospital, London (UK)

Dr Noel Thomas MA MBChB DCH DobsRCOG DTM&H MFHom General Medical Practitioner; homeopath; has assisted on health/education projects in six developing countries Maesteg, Wales (UK)

Dr Philip Thomas MBChB DPM MPhil MD Formerly Professor of Philosophy Diversity & Mental Health, University of Central Lancashire; Formally Consultant Psychiatrist (UK)

Dr Gianni Tognoni MD Istituto Mario Negri, Milano (Italy)

Dr Sebastio Viola Lic Med MRCPsych Consultant Psychiatrist, Cardiff (UK)

Dr Peter Walger MD Consultant, Infectious Disease Specialist, Bonn-Duesseldorf-Berlin (Germany)

Dr Sue Wareham OAM MBBS General Medical Practitioner (retired) (Australia)

Dr Elizabeth Waterston MD General Medical Practitioner (retired), Newcastle upon Tyne (UK)

Dr Eric Windgassen MRCPsych PGDipMBA Consultant Psychiatrist (retired) (UK)

Dr Pam Wortley MBBS MRCGP General Medical Practitioner (retired), Sunderland (UK)

Dr Matthew Yakimoff BOralH (DSc) GDipDent General Dental Practitioner (Australia)

Dr Rosemary Yuille BSc (Hons Anatomy) MBBS (Hons) General Medical Practitioner (retired), Canberra (Australia)

Dr Felicity de Zulueta Emeritus Consultant Psychiatrist in Psychotherapy, South London and Maudsley NHS Foundation Trust; Honorary Senior Clinical Lecturer in Traumatic Studies, Kings College London (UK)

Dr Paquita de Zulueta MBBChir MA (Cantab) MA (Medical Law & Ethics) MRCP FRCGP PGDipCBT CBT Therapist and Coach; Senior Tutor Medical Ethics; Honorary Senior Clinical Lecturer, Dept of Primary Care & Population Health, Imperial College London (UK)

New signatories added:

Dr Victoria Abdelnur MD Specialist in Integrative Trauma Therapy (Germany and Argentina)

Dr Talal Alrubaie Psychiatrist and Psychotherapist MBChB MSc MD (Austria)

Dr Ernst Berger MD Univ. Prof., Specialist for psychiatry and neurology, Specialist for child psychiatry, Psychotherapist, Former head of Human Right Commission of Austrian Ombudsman Board MUW Klinik f. Kinder- u. Jugendpsychiatrie (Austria)

Dr Brenda Bonnici, B Pharm (Hons), M Pharm (Regulatory Affairs), PhD (Neuropharmacology); Consultant Patient Information (Switzerland)

Dr Stephen Caswell Clinical Psychologist BSc (Hons) MSc PGDip DClinPsych (UK)

Here is the original post:
Doctors issue open letter to the Australian government: Julian Assange at risk of death in prison - World Socialist Web Site

Recommendation and review posted by Bethany Smith

At the annual San Antonio Breast Cancer Symposium, MSK investigators presented the latest research on detection and screening methods for people at high risk;immunotherapy for breast cancer;and the underlying causes of resistance to targeted therapies, among other topics.

Here are some of the noteworthy studies that featured contributions from MSK investigators.

Mammography screening has been shown to reduce breast cancer mortality by about 30% in the general population. But in women at an increased risk for the disease, additional imaging is recommended. This group includes people who carry a BRCA or other genetic mutation. Other risk factors include a family or personal history of breast cancer, certain high-risk lesions, or having undergone chest radiation at a young age.

At SABCS, diagnostic radiologist Maxine Jochelson discussed newer imaging technologies and the advantages they have over mammograms alone for detecting cancer in high-risk women. People in the high-risk group may need supplemental imaging to improve early detection, Dr. Jochelson says.

She explains that this approach would incorporate vascular imaging techniques. These methods can highlight areas of increased blood flow, a hallmark of tumor growth. This technology includes MRI and contrast-enhanced mammography. It can find tumors that mammograms may miss. Although vascular imaging costs more and generally takes longer to perform, its use is justified in high-risk women because ofthe increased chance of finding cancer, she says.

Mammograms & Other Types of Breast Exams

Learn about the different types of breast exams that can help detect breast cancer at its earliest stages, before symptoms develop.

Its undisputed that vascular imaging is better at detecting cancers than purely anatomical imaging, Dr. Jochelson adds. She emphasizes the need to fine-tune imaging strategies based on each persons specific risk factors.

Some of the imaging approaches she discussed during her presentation include:

We need to continue improving ways of assessing an individuals risk so we can stratify them and determine which type of imaging will most benefit each patient, Dr. Jochelson says. The true test will be studies to demonstrate that these newer technologies actually save lives.

Immunotherapy that uses genetically engineered cells, such as chimeric antigen receptor (CAR) T cells, has proven effective in treating some forms of blood cancer. So far, efforts to create immune cells that can effectively target solid tumors, including breast cancer, have been disappointing. At SABCS, MSK physician-scientist Christopher Klebanoff presented research from his lab on a novel tactic for enabling the immune system to better target and kill breast cancer cells while sparing healthy tissue.

We believe a major limiting challenge in successfully developing immunotherapy for breast cancer has been the identification of antigens. These are targets that the immune system can recognize, Dr. Klebanoff explains. Weve become very interested in the possibility that common mutations in breast cancer may produce antigens that can be recognized as foreign by the immune system.

The Klebanoff labs current research focuses on a gene called PIK3CA, which is mutated in about 40 to 45% of hormone receptor-positive breast cancers. It is also mutated in some HER2-positive and triple-negative breast cancers. Mutations inPIK3CA cause cancer cells to grow in an uncontrolled manner. In May 2019, the US Food and Drug Administration approved a pill called alpelisib (Piqray), which targets mutations in this gene. However, the drug has the potential for significant side effects, and tumors ultimately develop resistance to this medicine. Dr. Klebanoff and his colleague Smita Chandran, a senior research scientist in his lab and the scientific lead on this study, decided to look for a way to target antigens created by this mutation using immune cells designed to recognize them.

We believe a major limiting challenge in successfully developing immunotherapy for breast cancer has been the identification of antigens.

A challenging aspect of this approach was that mutated PIK3CA is found on the inside of cancer cells, allowing it to hide from many components of the immune system, such as antibodies. Physiological processes present in all cells, including cancer cells, allow mutated PIK3CA to be broken down into shorter fragments and loaded onto a molecular basket, called HLA, which is shuttled to the surface of the cell, Dr. Klebanoff says. This process allows immune cells to functionally look inside of other cells.

The researchers identified a specialized molecule, known as a T cell receptor, that has the ability to recognize this mutated PIK3CA-HLA complex. Immune cells specific for this complex recognize the target cell as being cancerous and destroy it. Healthy cells without the mutation remain untouched. The T cell receptors are matched to a patients unique complement of HLA molecules. As with a stem cell transplant, HLA must be matched for this immunotherapy to be effective.

Right now we are focused on the most common HLA types that are seen in a large proportion of our patients. The big-picture goal is to build a library of T cell receptors that can work in people with different HLA molecules and can target other common cancer mutations, Dr. Chandran explains. This work is still early and so far has only been done in the laboratory and not in humans. We are nonetheless excited about the prospect of working toward developing a more effective and less toxic immunotherapy customized to the genetic attributes of a patients tumor.

CDK4/6 inhibitors are an important class of drugs to treat estrogen receptor-positive breast cancer. These drugs stop the growth of breast cancer cells by targeting enzymes that are important in cell division. They are given in addition to hormone therapy. But about 10 to 15% of people who get these drugs dont respond to CDK4/6 inhibitors, and others later develop resistance.

MSK physician-scientist Sarat Chandarlapaty has been studying why this is the case. Understanding this resistance could contribute to the development of new targeted drugs. In December 2018, he published a study that reported on two genes that play a critical role in promoting this resistance. At SABCS, he presented his latest research on this area.

Weve been delving deeper into the role of these genes, as well as others, to try to understand some of the principles that could guide the next generation of therapies, Dr. Chandarlapaty says. By working out these detailed mechanisms, we will have the tools needed to design more potent and selective inhibitors for these refractory breast cancers.

Dr. Chandarlapaty explains that because tumors outsmart CDK4/6 inhibitors in different ways, he doesnt expect to find a one-size-fits-all approach for new drugs. There are some key principles for why these drugs fail, he says. For some tumors, making a more potent drug of the same general class will work. Other tumors bypass the pathway in a way that renders many of the old therapies weve used ineffective. For them, a completely different approach is needed.

Researchers Identify Why Women May Develop Resistance to a New Class of Breast Cancer Drugs

Clues emerge about why promising new breast cancer drugs sometimes dont work and what might be done about it.

Read more:
Updates from SABCS 2019: Detection and Screening, Immunotherapy Advances, and Therapy Resistance - On Cancer - Memorial Sloan Kettering

Recommendation and review posted by Bethany Smith

When Brooke Brumfield wasnt battling morning sickness, she craved nachos. Like many first-time expectant mothers, she was nervous and excited about her pregnancy. She had just bought a house with her husband, a wildland firefighter who had enrolled in paramedic school to transition to firefighting closer to home. Everything was going according to plan until 20 weeks into Brumfields pregnancy, when she lost her job at a financial technology startup and, with it, her salary and three months paid maternity leave. After building a new business to support her family, she had clients, but childcare was limited, and her husbands schedule was always shifting. By the time her baby arrived, everything was beyond overwhelming, Brumfield says. I pretty much felt like a truck hit me.

Brumfield had heard stories from friends and family about a way to minimize the stress and emotional fallout of the postpartum period: consuming her placenta, the vascular organ that nourishes and protects the fetus during pregnancy and is expelled from the body after birth. The women swore by the results. They said their milk supply improved and their energy spiked. The lows caused by plummeting hormone levels didnt feel as crushing, they explained.

Brumfield enlisted her doula who, for a fee, would steam, dehydrate, and pulverize her placenta, pouring the fine powder into small capsules. She swallowed her placenta pills for about six weeks after delivering her daughter. She said they helped her feel more even, less angry and emotional. When her milk supply dipped, she says, I re-upped my intake and [the problem] was solved.

Social scientists and medical researchers call the practice of consuming ones own placenta placentophagy. Once confined to obscure corners of alternative medicine and the countercultures crunchier communities, it has been picked up by celebrities (Kourtney and Kim Kardashian, January Jones, Mayim Bialik, Alicia Silverstone, Chrissy Teigen) and adopted by the wider public.

Although there are no official estimates of how many women ingest their placenta after delivery, the internet is increasingly crowded with placenta service providers preparers of pills, smoothies, and salves to support new mothers in the slog to recovery. But the purported benefits are disputed. Depending on whom you ask, placenta-eating is either medicine or a potentially dangerous practice based on myth. How did this practice go mainstream, despite a lack of reported scientific or clinical benefits? The answer may say much more about the world new mothers live in than it does about the placenta.

* * *

In any doctors office or primary care setting, a provider treating a patient will often mention new research that supports a recommended treatment. A pregnant woman diagnosed with preeclampsia, for example, might learn from her health care provider that low-dose aspirin has been shown in recent studies to reduce serious maternal or fetal complications. But the basis for placentophagy, a practice that lies beyond the boundaries of biomedicine, is a 16th-century text.

Li Shizhens Compendium of Materia Medica, or Bencao gangmu, first published in 1596, is a Chinese pharmacopoeia and the most celebrated book in the Chinese tradition of pharmacognosy, or the study of medicinal plants. It appears on the websites of placenta service providers and in the pages of the standard references for practitioners of traditional Chinese medicine (TCM), a millennia-old medical system with a growing global reach.

A physician and herbalist, Li drew on his empirical experiences treating patients but also on anecdotes, poetry, and oral histories. His encyclopedia of the natural world is a textual cabinet of natural curiosities, according to historian Carla Nappis The Monkey and the Inkpot, a study of Lis life and work. Containing nearly 1,900 substances, from ginseng and peppercorn to dragons bone and turtle sperm, Lis book describes dried human placenta as a drug that invigorated people, and was used to treat impotence and infertility, among other conditions. For advocates of placentophagy, this book serves as ethnomedical proof of the long-standing history of the practice and by extension, its efficacy and safety.

But like many claims to age-old provenance, the origins of placentophagy as a postpartum treatment are disputed. Sabine Wilms, an author and translator of more than a dozen books on Chinese medicine, scrutinized classical Chinese texts on gynecology and childbirth and told me theres no written evidence at all of a woman consuming her own placenta after birth as a mainstream traditional practice in China, even if formulas containing dried human placenta were prescribed for other conditions, as described in Lis book.

Beyond Lis 400-year-old encyclopedia, evidence of postpartum placenta-eating is nearly impossible to find in the historical record. Womens voices are notoriously difficult to unearth from the archives, and even in the 19th century, the details of childbirth and what happened to the placenta went largely unreported. But when two University of Nevada, Las Vegas anthropologists pored over ethnographic data from 179 societies, they discovered a conspicuous absence of cultural traditions associated with maternal placentophagy.

The earliest modern recorded evidence of placentophagy appears in a June 1972 issue of Rolling Stone. I pushed the placenta into a pot, wrote an anonymous author, responding to the magazines call asking readers to share stories from their personal lives. It was magnificent purple and red and turquoise. Describing her steamed placenta as wonderfully replenishing and delicious, she recounted eating and sharing it with friends after delivering her son.

Raven Lang, who is credited with reviving the oldest known and most commonly used recipe for postpartum placenta preparation, witnessed placentophagy while helping women as a homebirth midwife and TCM practitioner in California in the early 1970s. These women lived off the land, she explained, and might have drawn inspiration from livestock and other animals in their midst.

It wasnt long before placentophagy made its way beyond Californias hippie enclaves. In 1984, Mary Field, a certified midwife and registered nurse in the U.K., recounted eating her placenta, an unmentionable experience, to ward off postpartum depression after the birth of her second child. I remain secretive, Field wrote, for the practice verges on that other taboo cannibalism as it is human flesh and a part of your own body. She recalled choking down her own placenta. I could not bear to chew or taste it.

* * *

The rise of encapsulation technology, developed for the food industry and picked up by placenta service providers in the early aughts, put an end to visceral experiences like Fields. No longer must women process their own placenta or subject themselves to its purported offal-like flavor. Tidy, pre-portioned placenta pills resembling vitamins can be prepared by anyone with access to a dehydrator, basic supplies, and online training videos.

The boom in placentophagy highlights a longstanding puzzle for researchers. Almost every non-human mammal consumes its placenta after delivery, for reasons that remain unclear to scientists. Why did humans become the exception to this nearly universal mammalian rule? For Daniel Benyshek, an anthropologist and co-author of the UNLV study that found no evidence of placentophagy being practiced anywhere in the world, the human exception raises a red flag: It suggests the reasons that humans have eschewed placentophagy arent just cultural or symbolic, but adaptive that theres something dangerous about it, or at least there has been in our evolutionary history.

Scientific data on the potential benefits and risks of placentophagy is scarce, but a few small studies suggest that any nutrients contained in cooked or encapsulated placental tissue are unlikely to be absorbed into the bloodstream at concentrations large enough to produce significant health effects. Whether and in what quantity reproductive hormones such as estrogen survive placental processing has been little studied, but ingesting them after birth could have negative effects on milk production and may also increase the risk of blood clots.

Yet placental encapsulation services which remain unregulated in the U.S. have found a receptive audience of American consumers. (The food safety agency of the European Union declared the placenta a novel food in 2015, effectively shuttering the encapsulation business on the continent.) Mostly small and women-owned, placenta service businesses position themselves as an alternative to a highly medicalized, bureaucratized birthing process that has often neglected the needs of women. Postpartum checkups focus narrowly on pelvic examinations and contraceptive education. One survey of U.S. mothers found that one in three respondents who received a postpartum checkup felt that their health concerns were not addressed. In contrast, placenta service providers speak the language of empowerment.

That language can resonate with new mothers like Brumfield, who face overwhelming pressures to care for a newborn, nurse on demand, manage a household, and return to work amid anxieties about postpartum depression, dwindling energy, and inadequate milk supply.

In some ways, placenta consumption is motivated by a desire to perform good mothering, wrote scholars from Denmark and the United States in a paper on the emergence of the placenta economy. It reflects the idea of maternity as a neoliberal project, in which new mothers are responsible for their own individual well-being as well as that of their babies, they added.

Meanwhile, rates of postpartum depression keep climbing, maternity leave policies are stingy, and child care costs are often prohibitive. Its easy to see why many women would be eager to seek help, real or perceived, wherever they can find it.

* * *

Daniela Blei is a historian, writer, and book editor based in San Francisco.

This article was originally published on Undark. Read the original article.

Read more here:
Medicine or myth? The dubious benefits of placenta-eating - Salon

Recommendation and review posted by Bethany Smith

Few sports are as fast and furious as roller derby. The hour-long game unfolds in frenetic two-minute bursts as two teams race anti-clockwise around an oval track.Each team has a jammer aiming to pass four opposing blockers, and they score points for each opponent they lap.Blockers can obstruct the path with their torso or push opponents off course with a swift nudge of their upper legs or upper arms. Jammers juke a sideways dummy move and whip where a team member grabs their hand and swing them forwards ahead of the pack.

Fans are addicted to the ferocious drama of the competition, but, as you would expect for any contact sport, injuries are commonplace.Jessica had just moved to the USA from France when she attended her first roller derby match. From that first game I really fell in love with it, she says. She started competing, eventually leading Team France in the 2011 World Cup, and she even met her wife through the game.

In the summer of 2016, Jessica was playing blocker for a team in the Bay Area, California. She was in front of the oppositions jammer, and just as she turned to check her position, an opposing blocker collided with her at high speed.As the blockers shoulder hit the right side of her chin, Jessica felt an extraordinary pain on the opposite side of her skull and fell to the floor. The sudden jerking movement of her head, she now knows, caused her brain to ricochet within the skull leading to the sharp pain and severe concussion.

Sharing the full story, not just the headlines

She didnt seek immediate medical care. When she had suffered concussion previously, her doctors advice was to take it easy for a few weeks before returning to play. And it had seemed to work fine.This time, however, she had continued headaches and sense of mental constriction a feeling of pressure, like a vice on the brain, she says no matter how much she rested. Concentration for any length of time was often extremely difficult, and she was sensitive to the bright light of computer and phone screens, meaning that she had to wear sunglasses at work.

She also experienced inexplicable dips in her mood; at work, she would sometimes have to go and cry in her car. There was nothing that would have prompted it, she says. And I was not somebody who cried very easily, so it was exceedingly alarming for me to suddenly have these bursts of tears happen from nowhere.

It is now three years since her injury, but Jessica still hasnt recovered fully from these symptoms. I havent given up hope, but at this point, its not like theres a clear path to being better, or a clear timeline of when that would be.

Could Jessica have been at a higher risk of concussion simply because of her sex? Compelling new research suggests this is a distinct possibility, with a growing recognition that male and female brains may respond to injuries very differently.This follows a wider growing concern about concussion, triggered, in part, by high-profile injuries in sports like soccer, American football, rugby and boxing.

***

Concussion is changed neurological function as the result of a bump, blow or jolt to the head. The violent movement of the head causes a momentary release of various neurotransmitters that throws the brains signalling out of balance. It can also cause the neural tissue to swell and reduce the flow of blood to the brain and along with it, the glucose and oxygen starving our nerve cells of their fuel.

Immediate symptoms include seeing stars, feeling dizzy and confused, or losing consciousness entirely. Many people also suffer from post-concussion syndrome long after the event, with a constellation of lingering symptoms, including nausea, headaches, dizziness and mental confusion. These can last for weeks, months or even years. Some studies suggest that a concussion may also be accompanied by an increased risk of suicidal thinking, and there are concerns that repeated injuries could lead to long-term damage and brain degeneration.

The potential long-term impact of concussion is now well-known and has led many sports associations to change their rules and procedures to reduce the danger of injury. But there is low awareness of the potentially higher risks to female players and the possible need for differing diagnosis and treatment, including among healthcare professionals. At no point at any time when I was talking to physicians did they ever mention any potential difference [arising] from being a woman, says Jessica.

Only the best news in your inbox

Recent research, however, suggests that female athletes are not only more likely to sustain a concussion in any given sport; they also tend to have more severe symptoms, and to take longer to recover.Katherine Snedaker, founder of the non-profit campaign group Pink Concussions, believes that many like Jessica are invisible patients with an invisible injury and that means that they may struggle to get the support they need.

By shining a light on these differences, and understanding their causes, scientists and campaigners like Snedaker hope to improve the plight of all women struggling with the lingering and sometimes debilitating consequences that can arise from a single blow to the head.Given that millions of people a year sustain concussion around the world, and many more women are now taking up contact sports like rugby and soccer that might put them at greater risk of injury, this new understanding cannot come soon enough.

Womens brains may respond more severely to injury (Erin Aniker for Mosaic)

Concussion is thought to have first been distinguished from other types of brain injury more than 1,000 years ago, by the Persian physician Rhazes, but sex differences in concussion have only been the subject of serious research within the last two decades or so.

The delay perhaps reflects historic sexism within medicine, which has often neglected to investigate the possibility that female bodies may act differently from male bodies (besides the obvious differences, for example, in reproductive health). In the past, most clinical trials had included many more men than women, for instance though that has now improved. Most animal trials were also conducted on males, and it was only in 2014 that the US National Institutes of Health announced that studies it funded must use female as well as male animals, unless there were clear reasons to focus on one and not the other.

The sex differences in concussion were also obscured by the fact that many of these injuries are the result of accidents in sport, and girls and women were historically less likely to compete in events where concussion has attracted most attention.

Tracey Covassin, who is now based at Michigan State University, has been one of the leading researchers looking at potential sex differences in concussion. Canadian by birth, and inspired by her own love of ice hockey, when she first started out 20 years ago, she found next to no research on the subject.

There was nothing that really looked at females and concussion, because everything was about the NFL or the NHL, and concussions in male athletes or boxers.

To correct that deficit, Covassin turned first to the National Collegiate Athletic Associations injury records, to see how common concussion was among males and females within the same sports. In soccer, basketball and softball, for example, she found that female players are almost twice as likely to suffer a concussion as males.

Covassin and others then began to look at the effects of a concussion. They found that males and females are also likely to report different symptoms in the following days and weeks.

While male concussions are more likely to be followed by amnesia, for instance, female ones are more likely to lead to prolonged headaches, mental fatigue and difficulties with concentration, and mood changes.

Female athletes also seem to require more time for those symptoms to disappear. One study of 266 adolescents including soccer and American football players, wrestlers and skiers found that, on average, females took 76 days to recover, while males took 50 days.

As Esther, a student at Georgetown University in Washington, DC, who had a debilitating concussion while playing soccer when she was in the eighth grade, tells me: I just didnt really realise how serious it was. And then it wasnt really until the following day, when I returned to school as normal, that I couldnt really see the whiteboard. I felt so nauseous and had a horrible, horrible headache.

Some women have come forward stating they wish they had known their higher risk factor (Erin Aniker for Mosaic)

The symptoms lingered. Even at lunchtime, she says, it was a struggle to concentrate on what others were saying in the noise of the room, and watching a documentary in class gave her waves of nausea. Her post-concussion syndrome lasted for two and a half years, but, just as she was beginning to feel back on track, she suffered a new concussion (from falling down a flight of stairs) that led to further prolonged symptoms that shes still learning to cope with today, four years later. I think the symptoms that I still have now are kind of a cumulative effect.

Anna, an 18-year-old from New York City, sustained three concussions while playing basketball during her second and third years of high school. The third concussion was the most debilitating, resulting in her taking four to five months off school to recover.

I had terrible headaches, I wasnt able to properly think or put sentences together in a logical manner, she recalls.

*

Some researchers have argued that many of the reported sex differences are simply the result of societal gender roles.

Maybe girls and women are more cautious about their health, and more likely to disclose symptoms, while boys and men have been conditioned to play through the pain? Evidence to support some kind of baseline difference in the self-reporting of symptoms is mixed, however.

Some studies have also used more objective measures of cognitive function, with one finding females were about 1.7 times as likely as males to show signs of cognitive impairment a few days after experiencing the concussion. This includes a much larger decline in reaction times. Concussed female athletes also tend to show greater deficits in visual memory (though not every study has been able to detect this difference).

Given this evidence, self-reporting cannot be the only reason for the sex differences, says Inga Koerte, a neurobiologist at Harvard Medical School and the Ludwig Maximilian University of Munich.

Following a concussion, female athletes also seem to perform worse than males on a test of the vestibular-ocular reflex which allows our eyes to fix on a target as our body moves.

These tests ask people to focus on a fixed point as they move their head up and down or side to side and then rate symptoms of headache, dizziness, nausea or feelings of fogginess. The close observation makes it hard for someone to hide their condition, says Covassin. So even if theyre trying to lie to you about it, they just dont look very good, she says. That should reduce any self-reporting bias, yet in this test females are still found to have worse symptoms than males.

Perhaps the assumption that boys and men are somehow more ambitious and competitive and therefore more likely to hide their symptoms is itself a reflection of some outdated stereotypes and implicit biases?

Snedaker thinks so. I think that womens pain has been discounted as it has been for other mental or other physical injuries.

She points to some evidence that women, in general, are less likely to be prescribed painkillers in hospital. A 2008 study of American patients undergoing cardiac surgery, for instance, found that women were more likely to be given sedatives than men, who were more likely to be given painkillers perhaps because doctors implicitly assume that womens distress is more emotional than physiological. Another study found that women reporting to the emergency room with abdominal pain were less likely to be prescribed painkillers than men with the same complaint.

Ramesh Raghupathi, a professor in neurobiology and anatomy at Drexel University in Philadelphia, is similarly sceptical of the idea that we can dismiss the sex differences in concussion so easily.

He says that he has come across many female athletes who play through their pain rather than give up on their sporting ambitions despite the risks that this involves. Especially at [high] levels of competition, girls at middle school, high school or college theyre just as likely to hide their injuries, he says.In the weeks before Jessicas concussion, she had sustained some minor impacts, but had chosen to return to play which may then have exacerbated the effects of the later injury. In hindsight, she now wishes she had taken more time out.

***

Understanding exactly why women are more susceptible to concussion will be essential, if we are to reduce those risks. Recent research has focused on three main theories.

Some researchers have proposed that it may be due to the fact that female necks tend to be slimmer and less muscular than male ones.

Remember that the brain is free to move within the skull it is like jelly tightly packed into a Tupperware container and this means that any sharp movement of the head can cause it to shift around, potentially causing damage.For this reason, anything that helps to protect the skull from sharp movements should protect you from concussion and that includes a sturdier neck that is better able to buffer a blow.If you have a thicker neck, you have a stronger base, so the likelihood of head movement is much less, says Raghupathi.

Overall, the girth of a female neck is about 30 per cent smaller than a male, and this increases the potential acceleration of the head by as much as 50 per cent, according to one study.

Certain small anatomical differences can mean greater risks of injury for women (Erin Aniker for Mosaic)

The second idea that researchers have pointed to is some small anatomical differences within the brain itself. Female brains are thought to have slightly faster metabolisms than male ones, with greater blood flow to the head: essentially, they are slightly hungrier. And if a head injury momentarily disrupts that supply of glucose and oxygen, it could cause greater damage.

The third possibility lies in female sex hormones with some striking evidence that the risk of concussion changes with varying hormone levels during the menstrual cycle.Researchers at the University of Rochester School of Medicine and Dentistry, for instance, tracked the progress of 144 concussed women visiting six emergency departments in upstate New York and Pennsylvania.They found that injuries during the follicular phase (after menstruation and before ovulation) were less likely to lead to symptoms a month later, while an injury during the luteal phase (after ovulation and before menstruation) resulted in significantly worse outcomes.Exactly why this may be is still unclear, but it could relate to the rise and fall of progesterone levels during the cycle phases.

Previous research has shown that head injuries can temporarily disrupt the production of various hormones, including progesterone. During the luteal phase, progesterone levels are highest, and the researchers hypothesise that the sudden withdrawal due to head injury throws the brain off balance and contributes to the worse lingering symptoms. In the follicular phase, by contrast, progesterone levels are alreadylower and would not drop so dramatically meaning the resultant symptoms are less severe.

In line with this hypothesis, various studies have found that females taking contraceptive pills are also less likely to suffer severe symptoms following a concussion. Amy Herrold at Northwestern Universitys Feinberg School of Medicine, in Chicago, explains that oral contraceptives work by regulating the levels of sex hormones in the body. So instead of having hormonal surges and dips, over the course of a month, its more consistent, says Herrold, who also works as a research scientist at the Edward HinesJrVA Hospital in Illinois.

Provided that the pill continues to be taken after the concussion, that could prevent the sudden fall in progesterone, which would explain the less severe symptoms.

Complicating matters, the surges in oestrogen and progesterone during the luteal phase might also influence dopamine signalling. Dopamine is implicated in many of the brains functions that are influenced by concussion including motivation, mood, memory and concentration making it a good contender for a potential mechanism.

Raghupathis teams recent work on animals suggests that the surge of hormones during the luteal phase could render dopamine receptors slightly more vulnerable to perturbation. So, if a head injury occurs during this time, it seems to throw the dopamine signalling off balance in the long term, with potentially important ramifications for those many different brain functions. Its the disruption of this connectivity between cells [and] between regions that is a potential basis for the behavioural problems, Raghupathi says.

But, as Tracey Covassin emphasises, we still dont know how much truth these hypotheses hold. I wouldnt say any of them are clearly determined at this point.

The different explanations arent mutually exclusive: further research may find that the differences in musculature, blood flow, and the balance of hormones and neurotransmitters all contribute.Future research will also have to investigate other longer-term consequences of concussion. There are concerns, for example, that head impacts can increase the risk of neurodegenerative diseases like Alzheimers. We dont know if women may be at a greater risk here too.

*

Although the evidence for these sex differences has grown over the last few years, some experts would prefer to see these results replicated with further, carefully controlled studies, before the message is widely shared.

Without that corroboration, they worry that inadequately supported public claims may inadvertently harm womens recoveries. As Melissa McCradden, a neuroscientist and former competitive athlete, argued in a piece for Scientific American in 2017, a patients own expectations can influence their progress. So if we label women in this way, it can have a direct, negative effect on their recovery from concussion, she wrote.

There is also the fear that this information might put males at greater risk, if they wrongly assume that concussion is only a female problem.

If you focus too much on any kind of perceived or possible male-female divide, it might give this false perception that actually males are more able to withstand concussion [than they really are], says Luke Griggs, the deputy CEO of Headway, a charity that offers support for the survivors of brain injury and their carers across the UK. Boys and men might believe they could return to play too early whereas everyone, he emphasises, should be cautious following a concussion rather than trying to ignore their symptoms.

These are reasonable concerns, but many with concussion have been frustrated by the current lack of awareness about their condition.

Esther told me that some of her doctors were aware of the sex differences. But she would have preferred to know herself, before she ever got concussed. I had no idea, she says. And I think that if youre an athlete, playing any sport, you deserve to know the potential risks. If youre a girl playing sports, you deserve to know that maybe you are more at risk than your male counterparts.

Esther and Jessica emphasise that they wouldnt have let the risks prevent them from playing the sports in the first place this should not be taken as another excuse to limit the potential of girls and women. But they hope that female athletes would benefit from having the knowledge to protect themselves from unnecessary injuries and to ensure that they do not feel pressured to return to play too quickly, for instance.

Better awareness of these sex differences could ultimately lead to better care before and after the event.

One strategy might be to build better headgear for women. Unfortunately, its not quite that simple: concussions can arise from the sudden movement of the head as well as from a direct blow to the skull, which means that headgear wont prevent certain causes of concussion (though it can prevent fractures and other head injuries).

Some researchers are taking another approach: designing special exercises which could strengthen female neck muscles, which could reduce the violent movement of the head following an impact. It could decrease the basic chance for [concussive] brain injuries, says Inga Koerte.

And if further research shows that the sudden drop in progesterone increases the risks, then it might be a reason for female athletes to take oral contraceptives (though the evidence is not yet strong enough to make this recommendation).

For Jessica, these measures will be too late. She now lives and works in the UK, and after three years, many of her symptoms have subsided enough for her to mostly live my life without too much trauma, she says, but she still has a constant lingering headache, and she has to be on constant watch-out for a flare-up which can occur whenever she has over-exerted herself. And small difficulties that she once could have easily managed continue to feel overwhelming.

Indeed, on the day we were due to speak, she had been making some sales forecasts for work. She says it was hardly rocket science, yet she soon felt the fog descending.

I was looking at those numbers, and nothing made sense like I couldnt [even] figure out where to start to have them make sense.

She is still unable to play her beloved roller derby, and even running with its repeated jolting movements reverberating through the body is too much to bear, though she has recently taken up climbing, which doesnt lead to flare-ups. Without any answers from conventional medicine, shes sought help from acupuncture and osteopathy.

More than anything, the experience means that Jessica is constantly conscious of her brains physical presence and its vulnerability. I mean, youre normally not aware of your brain. Its just there its like your feet, its like breathing. But for me, Im always aware of it.

This article was first published by Wellcome on Mosaic and is republished here under a Creative Commons licence. Sign up to the newsletter at https://mosaicscience.com/newsletter

The rest is here:
Male and female brains respond to injury differently, research shows - The Independent

Recommendation and review posted by Bethany Smith

Operating final month, I felt a well-known twinge. Seconds later, a ache ripped by my proper calf and I stumbled to a halt, annoyed.

For many years I might dash 200 metres or run six miles a number of occasions per week with barely an aching muscle to indicate for it. However since turning 40 final June, scarcely a month has handed with out me sustaining an harm.

Ive pulled each calf muscle mass a number of occasions; the Achilles tendon in my heel, which precipitated ache for months; and Ive pulled muscle mass in my higher again whereas doing weights.

Antonia Hoyle is a working mom of two young children and has skilled damaged sleep and again ache amongst different niggles since turning 40

However as Ive learnt, torn muscle mass arent the one unwelcome physiological change after 40. My higher again hurts, my sleep is more and more damaged and hangovers really feel brutal. Im typically exhausted, my toes harm and my temper switches from sunny to murderous in seconds.

After many years of taking my well being as a right, I all of the sudden really feel extra fragile.

Im not alone on this realisation, nevertheless. Analysis final month by vitamin firm Healthspan revealed that at round 40, most of us realise our physique now not capabilities in addition to it used to.

Respondents to its ballot of two,000 adults reported their knees begin to harm after 40, their backs began to go at 44, whereas by their late-40s three-quarters of individuals stated they suffered joint ache each day.

Solely 55 per cent noticed a physician and nor have I, accepting on some stage, maybe, that such modifications are inevitable at 41.

Additionally, as a working mom of two young children, I dont have a lot spare time and dont suppose these well being niggles warrant a go to to the GP.

Specialists arent stunned by this development in well being decline from 40.

From experience, Ive realised that the physique doesnt bounce again as rapidly over 40, says Valentina Roffi, a physiotherapist at Dash Physiotherapy in Kensington, West London.

Niggles set people back and health and fitness levels can decline to get the results we had in our 20s after the age of 40, we need to put in more effort.

So what causes these post-40 well being niggles, and the way greatest can we counter them? I requested the consultants . . .

The issue: I really like working however since turning 40 Ive pulled each calf muscle mass endlessly and my proper Achilles heel, which took three months to fix.

In my experience, as soon as you turn 40 these injuries become more frequent, says Tim Allardyce, a physiotherapist and osteopath at Surrey Physio.

The timing is partly as a result of such accidents are cumulative (after working greater than 700 miles a yr for 25 years, my calves had been maybe destined to protest) and degenerative muscle mass shrink as we age. After 30, except we train, we lose as much as 5 per cent of our muscle per decade, making remaining muscle mass weaker and extra prone to pressure.

Many individuals expertise sore knees by the age of 40, brought on by the carrying down of cartilage

Declining ranges of testosterone which stimulates muscle progress in women and men can exacerbate muscle loss, as can oestrogen depletion in girls. Oestrogen works to strengthen the muscles, which support bones and joints, says Dr Roger Wolman, a marketing consultant in rheumatology and sport & train at Spire Bushey Hospital in Hertfordshire.

Tim Allardyce provides: The nervous system doesnt perform as effectively after 40, with response pace lowering, making us extra susceptible to harm, and our our bodies take longer to heal.

Many individuals expertise sore knees by the age of 40, brought on by the carrying down of cartilage.

The way to repair it: With regards to avoiding accidents, varying workouts [incorporating swimming, cycling and cross-training, for example, into routines] is beneficial to your nervous system because it challenges different muscle groups, as is incorporating balance training with a wobble board or Swiss ball, says Tim.

As I havent been in a position to run for 3 weeks because of my injured calf muscle, Ive been biking on an train bike and lifting weights 3 times per week, which has helped preserve my health and a greater temper. Doing stretches to heat up earlier than a full exercise makes the connective tissue round muscle extra pliable and might cut back harm, provides Tim.

For sore knees, reducing weight can ease pressure on the joints, whereas train will strengthen muscle mass and bones. Keep away from low chairs to minimise knee pressure.

Therapies embody injections of hyaluronic acid into the knee each six months to lubricate it. An alternative choice is platelet-rich plasma remedy, the place your individual blood is re-injected into the knee to stiumulate therapeutic.

The issue: Though a lifelong insomniac, Im sleeping worse than ever. Its typically 2am earlier than I nod off, and I frequently wake, worrying about my ever-expanding to-do record. Natural teas and over-the-counter cures havent helped. Ive been prescribed sleeping drugs earlier than in my 30s however I do know theyre not a long-term resolution.

Sleep professional Dr Neil Stanley says the deep restorative part of our sleep cycle when blood strain drops and blood provide to muscle mass will increase reduces from a number of hours once we are youngsters to as little an hour an evening in our 40s (its unclear why).

This means we can feel exhausted even if were getting the identical quantity of sleep, and were extra simply woken, he provides.

Center-age weight achieve can improve loud night breathing and interrupt sleep, whereas weaker bladders (widespread in over-40s) imply we wake extra to go to the toilet

Within the decade earlier than the menopause (the common age of which is 51), theres a drop within the hormone progesterone which usually will increase the manufacturing of sleep-aiding mind chemical GABA and different hormonal modifications that have an effect on the physiques temperature management. To have a good nights sleep we have to lose one diploma of our physique temperature. If thats elevated (which might occur within the years previous the menopause), youll discover it harder, says Dr Stanley.

Center-age weight achieve can improve loud night breathing and interrupt sleep, whereas weaker bladders (widespread in over-40s) imply we wake extra to go to the toilet.

The way to repair it: If attainable, sleep alone in a cool, quiet room, says Dr Stanley, I have found 36 per cent of sleep disturbance is caused by your partner.

Typically, at 2am, I transfer to our spare room the change of scene and house from my husband who, annoyingly, falls asleep immediately, appears to assist.

Reduce out your afternoon espresso, as our our bodies metabolise caffeine extra slowly with age, and do some train: research present a reasonable cardio exercise might help us sleep higher as a result of it reduces stress, a standard explanation for sleep issues.

Dont use your smartphone within the bed room. It emits blue gentle that suppresses the manufacturing of melatonin, the sleep hormone. Use a separate alarm clock as a substitute.

The issue: Most days, caught at my pc, I really feel an ache in my higher again.

Ache on this space is related to poor posture, muscle fatigue and stress, says Tim Allardyce and its significantly extra widespread for the over-40s.

Theres proof that the ache could also be associated to hormones launched once were confused. For instance, adrenaline causes muscle across the backbone to tense and spasm.

Posture deteriorates with age. This impact is each degenerative and cumulative, says Tim Allardyce.

Ache on this space is related to poor posture, muscle fatigue and stress says Tim Allardyce

Whereas age can put on down the discs in your backbone, which might trigger again ache, sitting hunched over a pc all day causes muscle weak point.

The way to repair it: Tim Allardyces favorite train for higher again ache is the dart.

He says: Lie on your front with your arms by your side. Lift your head, arch your back and lift your arms up behind you. Build up to holding for a minute, once a day. This strengthens muscles along the spine and between the shoulder blades.

Cardiovascular train similar to working or swimming improves circulation, which can assist flush out inflammatory by-products, provides Valentina Roffi: Strength exercises [such as lifting weights] build up the muscles, including those that act as scaffolding to the spine. Stretching exercises will improve the flexibility of the soft tissue surrounding the joints and the skeleton. Massage can also relieve symptoms.

Excessive heels was once a staple a part of my outfits, says Antonia Hoyle

The issue: Excessive heels was once a staple a part of my outfits however now theyre uncomfortable and my toes have developed calluses. If I do courageous heels on an evening out, Ive usually turned into my emergency flat sandals inside an hour.

Podiatrist Matt Fitzpatrick believes adopting a extra lively life-style in our 40s to halt middle-age unfold contributes to growing foot issues. This, mixed with carrying tight sneakers for work all day, and ageing, imply a deterioration of the gentle tissue, bones and joints in our toes, he provides.

Onerous pores and skin within the type of corns and calluses builds as much as shield them. You may as well get bunions.

The way to repair it: Keep away from heels for prolonged intervals of time, advises Matt Fitzpatrick and free flats, similar to ballet pumps: You have to curl your toes to keep them on, which can cause rubbing.

Take tight sneakers off all through the day to alleviate the strain, says George Hill, a podiatrist at Fleet Avenue Clinic in London, who additionally advises choosing trainers with cushioning and shock absorbance.

Ask your pharmacist for a foot cream with urea or lactic acid, which break down arduous pores and skin.

The issue: My moods are more and more erratic. One minute my husband and I are chatting amicably, the following he places the satsumas within the fruit bowl with out taking them out of their internet bag and I snap. Dr Louise Newson, a GP and menopause specialist, says it could possibly be a symptom of hormonal modifications that lead as much as menopause.

As well as a fall in oestrogen levels, progesterone levels fall, which can cause anxiety and a short temper, she says.

My moods are more and more erratic. One minute my husband and I are chatting amicably, the following he places the satsumas within the fruit bowl with out taking them out of their internet bag and I snap, says Antonia Hoyle

The way to repair it: An apparent resolution is hormone substitute remedy (HRT) that incorporates oestrogen and progesterone, although some girls and some consultants have blended emotions about it.

In addition to HRT, different consultants suggest testosterone lotions [levels of this hormone, usually linked with males, can fall in menopause, too] however these usually are not licensed for girls within the UK.

There is good evidence testosterone can be very beneficial for women, says Dr Newson. Theres additionally some proof weight loss plan low in sugar and processed meals might help enhance menopausal signs. Train, too, might help regulate temper.

Definitely, I discover my moods way more steady on days after Ive cycled, and I dont really feel prepared for HRT.

Alcohol is damaged down by enzymes within the physique and absorbed by way of the liver

The issue: A decade in the past Id share a bottle of wine (or two) with mates and really feel wonderful at work the next morning. Now, three glasses give me a crippling hangover.

Dr Mo Shariff, a liver specialist at Spire Bushey Hospital, says: Alcohol is damaged down by enzymes within the physique and absorbed by way of the liver. The extra you drink, the extra enzymes are produced to interrupt down this alcohol.

If youre youthful youre prone to be consuming frequently, so are extra tolerant to alcohol. After 40, alcohol consumption is much less frequent, so there may be much less of the enzyme to interrupt it down. Additionally, as we age and lose mind cells, it takes much less alcohol to saturate the cells and trigger hangover results.

The way to repair it: Select properly. Vodka is least prone to trigger hangovers because it has nearly no congeners substances produced throughout fermentation linked with hangovers (wine and whisky are excessive in congeners).

A latest lab research discovered consuming a mix of 65 per cent pear juice, 25 per cent candy lime and 10 per cent coconut water might cut back hangover results, the journal Present Analysis in Meals Science reported.

The issue: Im smug about my good eyesight however I havent seen an optician for years.

However Dr Susan Blakeney, of the School of Optometrists, says almost everyone wants glasses of their 40s: As we age, the lens inside the eye becomes stiffer, so doesnt focus as simply, and the gap as much as which youll see clearly will get additional away.

Dr Susan Blakeney, of the School of Optometrists, says almost everyone wants glasses of their 40s

Many people dont discover due to using electrical units. On these devices the contrast is good, which makes it easier to read, and you can make the font size bigger, says Dr Blakeney.

The way to repair it: Get your eyes examined a minimum of each two years over the age of 40. Not carrying glasses when wanted can pressure your eyes and result in complications and double imaginative and prescient. Ive added this to my to-do record.

To ease eye pressure, cease gazing your pc each 20 minutes and take a look at one thing 20ft away for 20 seconds. This rule was developed by Jeffrey Anshel, a U.S. optometrist, to encourage folks to blink extra typically (15 occasions a minute in comparison with half that once were gazing screens), so avoiding drained, irritated, dry eyes.

View post:
ANTONIA HOYLE reveals everything DOES go wrong at 40 but heres how you can fight back - Herald Publicist

Recommendation and review posted by Bethany Smith

MedicalResearch.com Interview with:

Dr. Julia Blanter, MD MSIcahn School of Medicine at Mount SinaiFirst author of the study

MedicalResearch.com: What is the background for this study?

Response: The Oncotype DX Breast Cancer Assay was developed to genetically profile patients with early stage, hormone positive breast cancer and predict their 10-year risk of distant recurrence. A high-risk recurrence score is associated with a benefit from adjuvant chemotherapy whereas a low risk recurrence score is associated with little to no benefit.

BRCA mutated tumors have been associated with higher risk recurrence scores as compared to BRCA negative breast cancer patients. However, there have been minimal studies relating discordance to BRCA mutations. Discordance refers to a poorly differentiated or high-grade tumor with a low risk recurrence score. Prior studies demonstrated 7-19% discordance, or difference between recurrence score and tumor grade in breast cancer patients regardless of BRCA mutation status.

It has been concluded that patients who exhibit discordance may benefit from additional therapy in conjunction with endocrine therapy.

MedicalResearch.com: What are the main findings?

Response: We developed a large Oncotype database of 723 patients treated at Mount Sinai Hospital from 2006-2018 to determine if BRCA status is associated with higher rates of discordance when compared to the mutation negative breast cancer population.

We found an association between higher recurrence score and BRCA positivity within our database. We also found that the association between discordance and breast cancer patients was similar between BRCA mutated and non-mutated patients.

MedicalResearch.com: What should readers take away from your report?

Response: Given our findings, we were able to conclude that discordance, tumor grade and tumor size should be considered in treatment plans of breast cancer patients regardless of BRCA mutation status.

MedicalResearch.com: What recommendations do you have for future research as a result of this work?

Response: Both BRCA mutated and non-mutated patients exhibit some discordance. These patients may benefit from receiving chemotherapy even with a low risk Recurrence Score. Future studies may involve looking at BRCA mutated patients with and without chemotherapy to assess rates of recurrence. Many studies have looked at decreasing risk for BRCA mutated patients with adjuvant chemotherapy following surgical treatment. Therefore, a future research project may involve looking at BRCA mutated patients with bilateral salpingo-oophorectomy and/or bilateral mastectomy and how that affects this risk.

MedicalResearch.com: Is there anything else you would like to add?

Response: We hope to continue using our database to look for further associations that may guide treatment. Within our database, we have look at many different factors some of which include: mutation status, demographics, cholesterol levels, BMI, recurrence rates.

Subjects have given their written informed consent and the study protocol was approved by the institutes committee on human research.

Disclosure Statement

Amy Tiersten, final author of the study has had the following financial relationships in consulting: AstraZeneca, F. Hoffman-La Roche Ltd. Novartis.

Industry-Sponsored Lectures: MSSM faculty occasionally give lectures at events sponsored by industry, but only if the events are free of any marketing purpose.

Amy Tiersten has served on the following Scientific Advisory Boards: Eisai Inc., Immunomedics, Novartis

Citation:

BRCA mutations and association with discordance in a large oncotype database

Julia Blanter, Brittney Zimmerman, Serena Tharakan, Krystal Cascetta, Meng Ru and Amy Tiersten. Icahn School of Medicine at Mount Sinai, New York, NY

https://www.abstractsonline.com/pp8/#!/7946/presentation/959

We respect your privacy and will never share your details.

Last Modified: Dec 15, 2019 @ 8:08 pm

The information on MedicalResearch.com is provided for educational purposes only, and is in no way intended to diagnose, cure, or treat any medical or other condition. Always seek the advice of your physician or other qualified health and ask your doctor any questions you may have regarding a medical condition. In addition to all other limitations and disclaimers in this agreement, service provider and its third party providers disclaim any liability or loss in connection with the content provided on this website.

Post Views: 390

Read more:
Oncotype DX Breast Cancer Assay: BRCA Mutations and Association with Discordance in a Large Oncotype Database - MedicalResearch.com

Recommendation and review posted by Bethany Smith

Led by Ros Eeles (Institute of Cancer Research, London, UK) and Michael Sandberg (90 Sloane Street, London, UK), a pioneering study aims to evaluate the practicality and potential benefits of utilizing genetic testing to assess an individuals risk of developing a given disease.

With the current popularity of direct-to-consumer genetic tests, such as 23andMe and AncestryDNA, public interest in genetics is at an all-time high. Such tests are often inaccurate and make unsubstantiated claims, highlighting the importance of integrating a properly controlled and verified genetic test into primary healthcare.

The scheme, known as the 90S study, launched on December 6th, 2019, and aims to assess the suitability of whole-genome sequencing in healthy patients, with the hope of aiding the early diagnosis of ailments such as cancer and heart disease. The study aims to sequence the genomes of approximately 1000 GP patients, who will be recruited from the private general practitioner (GP) surgery, 90 Sloane Street.

Our new initiative takes cutting-edge science on the genetics of disease into a primary care setting, by sequencing patients entire genomes from samples taken at a GP surgery and testing for the presence of 600 key genetic alterations. What we hope is that genetic screening is practical as a way of picking up genes associated with cancer and heart disease, is psychologically acceptable to patients, and can alter the way they are managed by their GP, explained Eeles.

The project will give us crucial information about whether genetic screening in primary care could be feasible, and how we should go about seeking to implement it within the NHS, Eeles added.

The first 20 patients to join the study will receive a psychological evaluation, to assess the impact of genetic screening and its acceptability to patients. All participants will receive echocardiograms to ensure a full understanding of the patients health, but also to put those who have demonstrated genetic risk of heart disease at ease that their current health is good.

The study will be comprised of two groups, half of which will have a family history of cancer or heart disease and half will not. It is hoped that other GP practices will be incorporated into the study, widening the pool of study participants.

The primary aim of the study is to identify potential methods for the simplification and improvement of existing processes in order to incorporate large-scale genetic screening into the NHS.

Working in partnership with experts at The Institute of Cancer Research and The Royal Marsden (London, UK) means we can integrate whole-genome sequencing into screening in primary care with the genetic support that is essential, commented Sandberg.

Read the original post:
Assessing the Future of Genetic Testing in Checkups - BioTechniques.com

Recommendation and review posted by Bethany Smith

1 in 6 people in the U.S. have a medically actionable disorder and may not know it

by: Anna McAllister

WEST MONROE, La. (12/16/19) Jenna Finley is a board-certified genetic counselor at Invitae, a leading medical genetics company. After counseling patients for years, Jenna knew the power with genetic information, but with no strong family history of disease she wasnt concerned about her risk. She mostly wanted to better understand the experience of her patients.

When she received her results, she was shocked.Her results revealed a genetic change in a gene associated with an increased risk of breast cancer. She went to see her doctor, who referred her to a high-risk breast cancer clinic, where she worked with a team to establish a plan to carefully monitor her health.

Now any signs of breast cancer that develop will be caught early.As a genetic counselor, Jenna knew that the other members of her family should be tested in case they, too, faced an increased health risks based on their shared genes. In fact, her mothers test came back positive for the same cancer-causing genetic change Jenna has.

More surprisingly, her father learned that he has a disorder that causes excess iron in the bodys organs, which can be fatal. Jennas father quickly went to his doctor who found his iron levels were so high that he had to begin treatment immediately to avoid potentially irreversible damage.Had Jenna and her parents not gone through the process of genetic testing, they might have ever known about these health conditions.

What Your Genes Can Tell You About Your Health:Your genes reveal more than just where your ancestors were from. Tiny changes in your genes can put you at increased risk of a wide variety of diseases, including cancer and heart disease.

Why Medical Genetic Testing is So Important:Not all genetic tests are created equal. The tests that are popular gifts at the holidays that tell you about your ancestry do not give you the health information you can use to make health decisions like Jennas family did. Jenna can tell you what to look for and how to choose a medical genetic test.

Her Personal Story:Jenna had no reason to believe anything would be amiss, and her entire career was based on understanding how your genes affect your health. She was a proponent of genetic testing before she did it herself, but now is a huge advocate of testing for families, knowing shes helped multiple family members live longer and healthier lives.

Family Health History: It is important to understand your familys health history and to think about how genetic testing can complement what you know.Jenna will also touch on how to broach the topic of health history when youre going home for the holidays and how to handle the sometimes-difficult conversations that happen when your health impacts others in your family.

Increased Genetic Risks are Common: 1 in 6 consumers in the U.S. have a medically actionable disorder and may not know it.

How Genetic Testing Can Help:Genetic testing help with a wide range of health questions, whether youre current facing a health issue, planning for a family, currently expecting or interested in preventing disease.

For more information on genetic testing, you can visit http://www.invitae.com.

The rest is here:
The gift of genetic testing - KTVE - myarklamiss.com

Recommendation and review posted by Bethany Smith

Are you one of the 26 million people who have experienced genetic testing by companies such as 23andMe or Ancestry? These companies promise to reveal what your genes say about your health and ancestry. Genes are, indeed, the instruction book containing the code that makes you a unique human being. This specific code which you inherit from your parents is what makes you, you.

The genetic coding system works amazingly well, but like all systems, occasionally things dont go as planned. You may inherit a gene that increases your chance of developing a health condition and sometimes the code develops an error causing you to have a devastating disease.

If genetic testing is so powerful in analysing and understanding your health, why cant you just as easily have this same genetic information inform your care at the doctors office? To answer this question, lets first look at the field of using genetic information to drive your healthcare (often referred to as precision or personalized medicine).

Across the globe, researchers devote enormous amounts of time and effort to understand how human genes impact health and billions of dollars are invested. The knowledge of what impact specific genes have on our health has increased tremendously and continues to do so at an amazing pace. Our increased understanding of genes, and how they affect our health, is driving novel methods to halt diseases and new ways of thinking about how medications can be developed to treat diseases.

Precision medicine is a growth area

With all this money and effort being expended, why isnt the use of your genetic information a standard part of your medical care? As the Kaiser Permanente Fellow to the World Economic Forums Precision Medicine Team, I recently had the opportunity to interview leaders from every aspect of Precision Medicine to understand the barriers preventing genetic testing from becoming a standard part of your healthcare.

Those with whom I spoke included insurance companies who pay for the tests, doctors who use and interpret them, genetic counsellors who help you understand test results, diagnostic companies which develop testing, government healthcare regulators, researchers making astonishing discoveries and healthcare organizations who are determining how best to deploy genetic testing.

These interviews suggest that the science behind genetic testing and the knowledge of how genes impact health is far ahead of our ability to make full use of this information in healthcare. Moving genetic testing into your doctors office requires a complex set of technologies, processes, knowledge and payments. Though many of the barriers inhibiting this movement were unique and complex, there were some consistent and common themes:

1. The limited expertise in genetics within healthcare systems. The need for education of healthcare providers as well as the public was regularly highlighted. The use of genetics in healthcare requires specialized knowledge that is outside the expertise of most doctors. Healthcare providers simply dont have time to study this new and rapidly changing information as their hands are full just keeping up with the latest trends and findings in their specialities. Additionally, education on genetics in healthcare is needed for the public. As one person interviewed said: The public watches CSI and thinks the use of DNA and genetics is black and white; using genetics in healthcare is rarely black and white

2. The lack of sufficient genetic counsellors. Genetic counsellors are often used to engage patients prior to testing and after results have been received, providing them with the detailed and nuanced information required for many of these tests. They also support doctors when they need assistance in making decisions about genetic testing and understanding the test results.

3. To successfully embed genetics into your care, doctors need the workflows for genetic testing (receiving results and understanding the impact on their care plans) to become a seamless part of their work. Clinical decision support software for genetics should alert the healthcare provider when genetic testing is merited with a patient, based on information the provider has entered during their examination. The software should then provide a list of appropriate tests and an explanation of why one might be used over another. After doctors order the test, they believe is most appropriate, the system should inform them of the results in clear, easily understandable language. The results should inform the doctor if the care plan for this patient should be modified (with suggestions for how the care should change).

4. Coverage of payments for genetic testing. If such tests are not paid for by insurers or government healthcare agencies (the payers), doctors simply wont order them. In the US and many other countries, there is patchwork coverage for genetic testing. Some tests are covered under specific circumstances, but many are not covered at all. The major reason cited by the payers for not covering genetic testing is a lack of evidence of clinical efficacy. In other words, do these tests provide actionable information, that your doctor can use to ensure better health outcomes? Until the payers see sufficient evidence of clinical efficacy, they will be hesitant to pay for many types of genetic testing. Doctors are concerned about the same thing, according to my research. They want to see the use of these tests in large populations, so they can determine that there is a benefit to using them.

Using your genetic information in healthcare is much more complex than taking a direct-to-consumer genetic test such as those offered by 23andMe. Healthcare is a multifaceted system and doctors already have too much on their plate. As such, there must be sufficient proof that the use of genetic testing will result in better health outcomes for the populations these clinicians serve before it's introduced into this setting.

We cannot hesitate in the face of the above complexities. As I completed the interviews which revealed these barriers, I stumbled across a journal article on this very subject. Written by a prominent group of doctors and researchers from government and leading universities in 2013, it highlights these same barriers and that virtually no progress has been made in the ensuing seven years. This is why I am focusing my fellowship at the World Economic Forum on a new project called Moving Genomics to the Clinic. Taking advantage of the multistakeholder platform of the Forum, the project will quicken the pace of tackling these barriers so that the use of genetic information can become a standard part of your healthcare experience.

License and Republishing

World Economic Forum articles may be republished in accordance with our Terms of Use.

Written by

Arthur Hermann, Fellow, Precision Medicine, World Economic Forum

The views expressed in this article are those of the author alone and not the World Economic Forum.

Read more here:
How to bring precision medicine into the doctor's office - World Economic Forum

Recommendation and review posted by Bethany Smith

Youve likely heard about direct-to-consumer DNA testing kits. In the past few years, at-home genetic testing has been featured in the lyrics of chart-topping songs, and has helped police solve decades-old cold cases, including identifying the Golden State Killer in California.

Even if you dont find a DNA testing kit under your own Christmas tree, theres a good chance someone you know will.

Whether youre motivated to learn about your health or where your ancestors came from, it is important to understand how these tests work before you spit in the tube.

While exciting, there are things that these genetic testing kits cannot tell users and important personal implications that consumers should consider.

Health, traits and ancestry kits

My main area of research is around clinical genome sequencing, where we look through all of a persons DNA to help diagnose diseases. With a PhD in genetics, I often get questions from friends and family about which direct-to-consumer genetic test they should buy, or requests to discuss results. Most questions are about two types of products: ancestry and health kits.

The most popular ancestry kit is from AncestryDNA. These kits are aimed at giving users insight into where their ancestors might be from. They can also connect users with family members who have used the service and have opted into having their information shared. Another option is Living DNA, which has a smaller dataset but provides more precise information on the U.K. and Ireland.

The most popular health kit is from 23andMe. Depending on the users preference, results include information on predispositions for diseases such as diabetes and Alzheimers, as well as on the likelihood of having certain traits such as hair colour and taste. This company also offers ancestry analysis, as well as ancestry and trait-only kits that dont provide health information. The kit offered by the newer MyHeritage DNA also provides a combined ancestry and health option.

There are other kits out there claiming to evaluate everything from athletic potential to relationship compatibility. But gift-buyers beware: for most of these, in contrast to those above, the evidence is seriously lacking.

How these tests work

For all of these tests, customers receive a kit in the mail. The kits contain instructions for collecting a saliva sample, which you mail back to the company for analysis.

During this analysis, these popular tests do not look at the entire genome. Instead, they employ single nucleotide polymorphism (SNP) genotyping. As humans we all share 99.9 per cent of our DNA. SNPs are essentially what is left: all of the points at which we can differ from our neighbour, making us unique. SNP genotyping looks at a subset of these sites to survey the users genome.

These SNPs are then compared to reference datasets of individuals with known conditions or ancestry. Most results are based on the SNPs shared with a given group. For example, if your results say that you are 42 per cent Southeast Asian, its because 42 per cent of your SNPs were most likely to have come from a group in the reference dataset labelled Southeast Asian. The same goes for traits and health conditions.

How they differ from clinical tests

Direct-to-consumer genetic tests are not a substitute for clinical assessment. The methods used differ dramatically from what is done to diagnose genetic diseases.

In a clinical setting, when suspicion of a genetic condition is high, entire genes are often analyzed. These are genes where we understand how changes in the DNA cause cellular changes that can cause the disease. Furthermore, clinical assessment includes genetic counselling that is often key to understanding results.

In contrast, findings from direct-to-consumer genetic tests are often just statistical links; there is commonly no direct disease-causing effect from the SNPs.

Users may interpret a result as positive, when the risk increase is only minimal, or entirely false. These tests can also give false reassurance because they do not sequence genes in their entirety and can miss potentially harmful variants.

Before you spit in a tube, stop and think

These tests are exciting: they introduce new audiences to genetics and get people thinking about their health. Theyre also helping to build vast genetic databases from which medical research will be conducted.

But for individual users, there are important caveats to consider. Recent reports have questioned the accuracy of these tests: identical twins can receive different results. Furthermore, a lack of diversity in the reference data has caused particular concern regarding accuracy of results for ethnic minorities.

There are also concerns about the way these tests emphasize racial categories that science considers to be social constructs and biologically meaningless.

A recent paper in the British Medical Journal suggests four helpful questions for users to consider. First, users should ask themselves why they want the test. If it is to answer a medical question, then they should speak with their doctor. Users should also think about how they might feel when they receive results containing information they would rather not know.

Users should also consider issues around security and privacy. It is important to read the fine print of the service youre using, and determine whether youre comfortable sharing personal information, now and in the future.

In Canada, policies around genetics have not always kept up with the science. At present, direct-to-consumer genetic testing is unregulated. And, although Canadians have legislative protections against genetic discrimination, those laws are being challenged in the courts, and could change.

Finally, it may also be worth discussing DNA testing with relatives. We share half of our genome with our immediate family members, and smaller fractions with more distant relatives. Genetic results not only affect us, but our family.

Bottom line: Its all for fun

Some users may feel they learn more about themselves. For others, results may bring people closer together not a bad outcome for the holiday season.

At the end of the day, these genetic testing kits are for entertainment: they should not be used to assess health risk in any meaningful way.

If you have any questions related to your health or a genetic disease, discuss these with your family doctor or a suitable health-care professional.

Michael Mackley, Junior Fellow, MacEachen Institute for Public Policy and Governance; Medical Student, Dalhousie University

This article is republished from The Conversation under a Creative Commons license.

See the original post:
DNA tests make fun holiday gifts, but beware of the hype - Salon

Recommendation and review posted by Bethany Smith

Ariel Davis for BuzzFeed NewsShare on Facebook Share on Facebook Share on Pinterest Share on Pinterest Pinterest Pinterest

Genetics just got personal. So boasted the website of 23andMe in 2008, just after launching its DNA testing service.

As we entered this decade, a small cohort of companies 23andMe, its Silicon Valley neighbor Navigenics, and Icelandic competitor deCODE Genetics were selling a future of personalized medicine: Patients would hold the keys to longer and healthier lives by understanding the risks written into their DNA and working with their doctors to reduce them.

We all carry this information, and if we bring it together and democratize it, we could really change health care, 23andMe cofounder Anne Wojcicki told Time magazine when it dubbed the companys DNA test 2008s invention of the year, beating out Elon Musks Tesla Roadster.

But in reality, the 2010s would be when genetics got social. As the decade comes to a close, few of us have discussed our genes with our doctors, but millions of us have uploaded our DNA profiles to online databases to fill in the details of our family trees, explore our ethnic roots, and find people who share overlapping sequences of DNA.

Advertisement

Its become like Facebook for genes, driven by the same fundamental human desire to connect. And, as with Mark Zuckerbergs social media behemoth, this is the decade we reckoned with what it really means to hand over some of our most personal data in the process.

A 23andMe saliva collection kit for DNA testing.

It all panned out differently from the way I imagined in 2009, when I paid $985 to deCODE and $399 to 23andMe to put my DNA into the service of science journalism. (I spared my then-employer, New Scientist magazine, the $2,500 charge for the boutique service offered by Navigenics.)

I was intrigued by the potential of DNA testing for personalized medicine, but from the beginning, I was also concerned about privacy. I imagined a future in which people could steal our medical secrets by testing the DNA we leave lying around on discarded tissues and coffee cups. In 2009, a colleague and I showed that all it took to hack my genome in this way was a credit card, a private email account, a mailing address, and DNA testing companies willing to do business without asking questions.

Advertisement

Much of the rest of what I wrote about DNA testing back then reflected pushback from leading geneticists who argued that the companies visions of personalized medicine werent ready for primetime.

As I explored the reports offered by 23andMe and deCODE, I couldnt help but agree especially when deCODE wrongly concluded that I carry two copies of a variant of a gene that would give me a 40% lifetime chance of developing Alzheimers. (Luckily, it wasnt cause for panic. Id pored over my DNA in enough detail by then to know that I carry only one copy, giving me a still-elevated but much less scary lifetime risk of about 13%.)

Despite such glitches, it still seemed that medicine was where the payoffs of mainstream genetic testing were going to be. As costs to sequence the entire genome plummeted, I expected gene-testing firms to switch from using gene chips that scan hundreds of thousands of genetic markers to new sequencing technology that would allow them to record all 3 billion letters of our DNA.

So in 2012, eager to provide our readers with a preview of what was to come, New Scientist paid $999 for me to have my exome sequenced in a pilot project offered by 23andMe. This is the 1.5% of the genome that is read to make proteins and is where the variants that affect our health are most likely to lurk.

Experts at the Medical College of Wisconsin in Milwaukee analyzed my exome. While they werent at that point able to tell me much of medical significance that I didnt already know, the article I wrote from the experience in 2013 predicted a future in which doctors would routinely scour their patients genomes for potential health problems and prescribe drugs that have been specifically designed to correct the biochemical pathways concerned.

Advertisement

Im glad I included an important caveat: This may take several decades.

By then, the revolution promised by 23andMe and its competitors was faltering. Navigenics and deCODE had both been acquired by bigger companies and stopped selling DNA tests directly to the public.

23andMe, backed by the deep pockets of Google and other Silicon Valley investors, had enough cash to continue. But it fell foul of the FDA, which had decided that the company was selling medical devices that needed official approval to be put on the market. In a 2013 warning letter, the FDA said that 23andMe had failed to provide adequate evidence that its tests produced accurate results. By the end of 2013, 23andMe had stopped offering assessments of health risks to new customers.

Since then, the company has slowly clawed its way back into the business of health. In 2015, it was given FDA approval to tell customers whether they were carriers for a number of inherited diseases; in 2017, it started providing new customers with assessments of health risks once more.

I recently updated my 23andMe account, getting tested on the latest version of its chip. My results included reports on my genetic risk of experiencing 13 medical conditions. Back in 2013, there were more than 100 such reports, plus assessments of my likely responses to a couple dozen drugs.

In the lab, discovery has continued at a pace, but relatively few findings have found their way into the clinic.

Advertisement

If youve recently been pregnant, you were probably offered blood tests to tell whether your fetus had a serious genetic abnormality. And if youve been diagnosed with cancer, a biopsy may have been sequenced to look for mutations that make some drugs a good bet and other ones a bust. Neither would have been common a decade ago.

But the wider health care revolution envisaged by Wojcicki remains far off.

A few weeks ago, I saw my doctor to discuss my moderately high blood cholesterol and had a conversation that Id once predicted would be common by now. I had signed up for a project called MyGeneRank, which took my 23andMe data and calculated my genetic risk of experiencing coronary artery disease based on 57 genetic markers, identified in a 2015 study involving more than 180,000 people.

My genetic risk turns out to be fairly low. After I pulled out my phone and showed my doctor the app detailing my results, we decided to hold off on taking a statin for now, while I make an effort to improve my diet and exercise more. But it was clear from her reaction that patients dont usually show up wanting to talk about their DNA.

We have all these naysayers and an immense body of research that is not being used to help patients, said Eric Topol, director of the Scripps Research Translational Institute in La Jolla, California, which runs the MyGeneRank project.

Advertisement

Joseph James DeAngelo, the suspected "Golden State Killer," appears in court for his arraignment in Sacramento, April 27, 2018.

23andMes collision with the FDA wound up being a turning point in ways I didnt anticipate at the time. From the start, the company included an assessment of customers ancestries as part of the package. But after the FDA cracked down, it pivoted to make ancestry and finding genetic relatives its main focus. Offering the test at just $99, 23andMe went on a marketing blitz to expand its customer base competing with a new rival.

Ancestry.com launched its genome-scanning service in May 2012 and has since gone head-to-head with 23andMe through dueling TV ads and Black Friday discount deals.

DNA tests became an affordable stocking filler, as millions of customers were sold a journey of self-discovery and human connection. We were introduced to new genetic relatives. And we were told that the results might make us want to trade in our lederhosen for a kilt or connect us to distant African ancestors.

Today, Ancestrys database contains some 15 million DNA profiles; 23andMes more than 10 million. Family Tree DNA and MyHeritage, the two other main players, have about 3.5 million DNA profiles between them. And for the most dedicated family history enthusiasts, there is GEDmatch, where customers can upload DNA profiles from any of the main testing companies and look for potential relatives. It contains about 1.2 million DNA profiles.

Advertisement

So far, so much fun. But DNA testing can reveal uncomfortable truths, too. Families have been torn apart by the discovery that the man they call Dad is not the biological father of his children. Home DNA tests can also be used to show that a relative is a rapist or a killer.

That possibility burst into the public consciousness in April 2018, with the arrest of Joseph James DeAngelo, alleged to be the Golden State Killer responsible for at least 13 killings and more than 50 rapes in the 1970s and 1980s. DeAngelo was finally tracked down after DNA left at the scene of a 1980 double murder was matched to people in GEDmatch who were the killer's third or fourth cousins. Through months of painstaking work, investigators working with the genealogist Barbara Rae-Venter built family trees that converged on DeAngelo.

Genealogists had long realized that databases like GEDmatch could be used in this way, but had been wary of working with law enforcement fearing that DNA test customers would object to the idea of cops searching their DNA profiles and rummaging around in their family trees.

But the Golden State Killers crimes were so heinous that the anticipated backlash initially failed to materialize. Indeed, a May 2018 survey of more than 1,500 US adults found that 80% backed police using public genealogy databases to solve violent crimes.

Advertisement

I was very surprised with the Golden State Killer case how positive the reaction was across the board, CeCe Moore, a genealogist known for her appearances on TV, told BuzzFeed News a couple of months after DeAngelos arrest.

The new science of forensic genetic genealogy quickly became a burgeoning business, as a company in Virginia called Parabon NanoLabs, which already had access to more than 100 crime scene samples through its efforts to produce facial reconstructions from DNA, teamed up with Moore to work cold cases through genealogy.

Before long, Parabon and Moore were identifying suspected killers and rapists at the rate of about one a week. Intrigued, my editor and I decided to see how easy it would be to identify 10 BuzzFeed employees from their DNA profiles, mimicking Parabons methods. In the end, I found four through matches to their relatives DNA profiles and another two thanks to their distinctive ancestry. It was clear that genetic genealogy was already a powerful investigative tool and would only get more so as DNA databases continued to grow.

A backlash did come, however, after two developments revealed by BuzzFeed News in 2019. In January, Family Tree DNA disclosed that it had allowed the FBI to search its database for partial matches to crime-scene samples since the previous fall without telling its customers. I feel they have violated my trust, Leah Larkin, a genetic genealogist based in Livermore, California, told BuzzFeed News at the time.

Then, in May, BuzzFeed News reported that police in Centerville, Utah, had convinced Curtis Rogers, a retired Florida businessperson who cofounded GEDmatch, to breach the sites own terms and conditions, which were supposed to restrict law enforcement use to investigations of homicides or sexual assaults. That allowed Parabon to use matches in the database to identify the perpetrator of a violent assault.

Advertisement

Larkin and other genealogists condemned the move, calling it the start of a slippery slope that would see the method being used to investigate more trivial crimes.

As barbs flew between genealogists working with law enforcement and those who advocate for genetic privacy, GEDmatch responded with new terms of service that extended the definition of violent crime, but also required users to explicitly opt in for their DNA profiles to be included in law enforcement searches.

Overnight, GEDmatch became useless for criminal investigations. Since then, the number of users opting in for matching to crime-scene samples has slowly increased, and now stands at more than 200,000. But progress in cracking criminal cases has remained slow.

Now that cops have seen the power of forensic genetic genealogy, however, they dont want to let it go. In November, the New York Times revealed that a detective in Florida had obtained a warrant to search the entirety of GEDmatch, regardless of opt-ins. It seems only a matter of time before someone tries to serve a warrant to search the huge databases of 23andMe or Ancestry, which dont give cops access sparking legal battles that could go all the way to the Supreme Court.

Genetic privacy, barely mentioned as millions of us signed up to connect with family across the world and dig into our ancestral roots, is suddenly front and center.

This week, Rogers and the other cofounder of GEDmatch, John Olson, removed themselves from the heat when they sold GEDmatch to Verogen, a company in San Diego that makes equipment to sequence crime-scene DNA. Verogen CEO Brett Williams told BuzzFeed News that he sees a business opportunity in charging police for access to the database but promised to respect users privacy. Were not going to force people to opt in, he said.

Advertisement

But it isnt just whether cops can run searches against your DNA. 23andMe may not share your information with law enforcement, but customers are asked when they signed up whether if they are OK with their de-identified DNA being used for genetic research.

It might not be obvious when you fill in the consent form, but this lies at the heart of 23andMes business model. The reason the company pushed so hard to expand its database of DNA profiles is to use this data in research to develop new drugs, either by itself or by striking deals with pharmaceutical companies.

Ancestry has also asked its users to consent to participate in research, teaming up with partners that have included Calico, a Google spinoff researching ways to extend human lifespan.

You might be comfortable with all of this. You might not. You should definitely think about it because when the information is your own DNA, there really is no such thing as de-identified data.

That DNA profile is inextricably tied to your identity. It might be stripped of your name and decoupled from the credit card you used to pay for the test. But as 23andMe warns in its privacy policy: In the event of a data breach it is possible that your data could be associated with your identity, which could be used against your interests.

Advertisement

And because you share a large part of your genome with close relatives, when you put your DNA profile into a companys database, you arent only making a decision for yourself: Their privacy is on the line, too.

Whether its due to concerns about privacy, a saturated market, or just that the novelty has worn off, sales of DNA ancestry tests are slowing. Ancestry has responded by offering a new product focused on health risks. Unlike 23andMe, it requires that tests are ordered through PWNHealth, a national network of doctors and genetic counselors.

Will this be the development that takes us back to the future I once imagined? Maybe so, but if the roller coaster of the past decade has taught me anything, its to be wary about making any predictions about our genetic future.

Peter Aldhous is a Science Reporter for BuzzFeed News and is based in San Francisco.

Contact Peter Aldhous at peter.aldhous@buzzfeed.com.

Got a confidential tip? Submit it here.

Follow this link:
10 Years Ago, DNA Tests Were The Future Of Medicine. Now Theyre A Social Network And A Data Privacy Mess. - BuzzFeed News

Recommendation and review posted by Bethany Smith