After mining the genetic records of thousands of breast cancer patients, researchers from the Johns Hopkins Kimmel Cancer Center have identified a gene whose presence may explain why some breast cancers are resistant to tamoxifen, a widely used hormone treatment generally used after surgery, radiation and other chemotherapy.

The gene, called MACROD2, might also be useful in screening for some aggressive forms of breast cancers, and, someday, offering a new target for therapy, says Ben Ho Park, M.D., Ph.D., an associate professor of oncology in the Kimmel Cancer Center's Breast Cancer Program and a member of the research team.

The drug tamoxifen is used to treat estrogen receptor-positive breast cancers. Cells in this type of breast cancer produce protein receptors in their nuclei which bind to and grow in response to the hormone estrogen. Tamoxifen generally blocks the binding process of the estrogen-receptor, but some estrogen receptor-positive cancers are resistant or become resistant to tamoxifen therapy, finding ways to elude its effects. MACROD2 appears to code for a biological path to tamoxifen resistance by diverting the drug from its customary blocking process to a different way of latching onto breast cancer cell receptors, causing cancer cell growth rather than suppression, according to a report by Park and his colleagues published online Nov. 24 in the Proceedings of the National Academy of Sciences.

Specifically, the team's experiments found that when the gene is overexpressed in breast cancer cells -- producing more of its protein product than normal -- the cells become resistant to tamoxifen.

One piece of evidence for the gene's impact was demonstrated when the Johns Hopkins scientists blocked MACROD2's impact in breast cancer cell cultures by using an RNA molecule that binds to the gene to "silence," or turn off, the gene's expression. But the technique only partially restored the cells' sensitivity to tamoxifen.

To conduct the study, the scientists examined two well-known databases of breast cancer patients' genetic information, The Cancer Genome Atlas and the Molecular Taxonomy of Breast Cancer International Consortium study. Patients who had MACROD2 overexpressed in primary breast cancers at the original breast cancer site had significantly worse survival rates than those who did not, according to an analysis of the patient databases.

With this in mind, the Johns Hopkins scientists suggest that clinicians may be able to look at MACROD2 activity to help them identify aggressive breast cancers at early stages of growth.

The team's analysis also found that MACROD2 overexpression was present in the majority of metastases in patients with tamoxifen-resistant tumors and in tumor cells that had spread from their original site in the breast. The latter finding, says Park, suggests that tamoxifen resistance caused by the gene might be a process that develops over time as women take the drug.

Finding a small group of a patient's cancer cells that overexpress MACROD2, he explained, means those cells are likely to be the "survivors" of early treatment with tamoxifen that go on to multiply and cause metastatic tumors. "The resultant cells -- or the vast majority of them -- are now all overexpressing MACROD2, and are the cells that are aggressive and will cause trouble," he adds.

Park and his team cautioned that there may be other genetic factors that control tamoxifen resistance, and that nothing in their study should suggest that tamoxifen use should be avoided.

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Can Learning the Piano Rehab Partial Spinal Cord Injury Patients? | Thad Starner | TEDxPeachtree
This talk was given at a local TEDx event, produced independently of the TED Conferences. Google Glass Tech Lead Thad Starner #39;s childhood interactions with residents at the nursing home where...

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November 25, 2014

Provided by Peter Bracke, UCLA

Understanding the self-replication mechanisms is critical for improving stem cell therapies for blood-related diseases and cancers

Led by Dr. Hanna Mikkola, a member of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, UCLA scientists have discovered a protein that is integral to the self-replication of hematopoietic stem cells during human development.

The discovery lays the groundwork for researchers to generate hematopoietic stem cells in the lab that better mirror those that develop in their natural environment. This could in turn lead to improved therapies for blood-related diseases and cancers by enabling the creation of patient-specific blood stem cells for transplantation.

The findings are reported online ahead of print in the journal Cell Stem Cell.

Researchers have long been stymied in their efforts to make cell-based therapies for blood and immune diseases more broadly available, because of an inability to generate and expand human hematopoietic stem cells (HSCs) in lab cultures. They have sought to harness the promise of pluripotent stem cells (PSCs), which can transform into almost any cell in the human body, to overcome this roadblock. HSCs are the blood-forming cells that serve as the critical link between PSCs and fully differentiated cells of the blood system. The ability of HSCs to self-renew (replicate themselves) and differentiate to all blood cell types, is determined in part by the environment that the stem cell came from, called the niche.

In the five-year study, Mikkola, Dr. Sacha Prashad and Dr. Vincenzo Calvanese, members of Mikkolas lab and lead authors of the study, investigated a HSC surface protein called GPI-80. They found that it was produced by a specific subpopulation of human fetal hematopoietic cells that were the only group that could self-renew and differentiate into various blood cell types. They also found that this subpopulation of hematopoietic cells was the sole population able to permanently integrate into and thrive within the blood system of a recipient mouse.

Mikkola and colleagues further discovered that GPI-80 identifies HSCs during multiple phases of human HSC development and migration. These include the early first trimester of fetal development when newly generated human hematopoietic stem cells can be found in the placenta, and the second trimester when HSCs are actively replicating in the fetal liver and the fetal bone marrow.

We found that whatever HSC niche we investigated, we could use GPI-80 as the best determinant to find the stem cell as it was being generated or colonized different hematopoietic tissues, said Mikkola, associate professor of molecular, cell and development biology at UCLA and also a member of the Jonsson Comprehensive Cancer Center. Moreover, loss of GPI-80 caused the stem cells to differentiate into mature blood cells rather than HSCs. This essentially tells us that GPI-80 must be present to make HSCs. We now have a very unique marker for investigating how human hematopoietic cells develop, migrate and function.

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UCLA Researchers Identify Protein Key To The Development Of Blood Stem Cells

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Stem Cell Therapy at EmCell clinic: Dr. Khalil Fadel story

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CINCINNATI -- The daughter of a Cincinnati Bengal who has already been through so much has another big day ahead of her.

Leah Still -- Devon Stills daughter -- will undergo a stem cell transplant procedure on Tuesday. The stem cell treatment is an effort to regenerate her bone marrow and stem cells.

Still flew to Philadelphia Monday to be with Leah. They went shopping at a mall.

The smile you have after shutting down the mall, literally. This girl had security and the... http://t.co/HHWtLhf4pf pic.twitter.com/QFRMJsdlCX

Still tweeted another photo Tuesday while they waited for her treatment to begin.

Selfies in the hospital to pass time by as we wait for the stem cells http://t.co/q6JZOIyi9q pic.twitter.com/ogB0J0Gitg

Leah was diagnosed with stage 4 neuroblastoma in June. She had surgery to remove a tumor from her abdomen in September, followed by chemotherapy to try to remove the cancer from her bone marrow.

She has already been treated with a round of chemotherapy and radiation.

Devon Still said the family hopes that will be her only round of chemo and radiation but that it depends on how her results come back. He said it will take four to six weeks to determine if more treatments are necessary.

Follow Devon Still's updates on Twitter at @Dev_Still71

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Leah Still to undergo stem cell therapy

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Newswise In a study led by Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research member, Dr. John Chute, UCLA scientists have for the first time identified a unique protein that plays a key role in regulating blood stem cell replication in humans.

This discovery lays the groundwork for a better understanding of how this protein controls blood stem cell growth and regeneration, and could lead to the development of more effective therapies for a wide range of blood diseases and cancers.

The study was published online November 21, 2014 ahead of print in the Journal of Clinical Investigation.

Hematopoietic stem cells (HSCs) are the blood-forming cells that have the remarkable capacity to both self-renew and give rise to all of the differentiated cells (fully developed cells) of the blood system. HSC transplantation provides curative therapy for thousands of patients annually. However, little is known about the process through which transplanted HSCs replicate following their arrival in human bone marrow. In this study, the authors showed that a cell surface protein called protein tyrosine phosphatase-sigma (PTP-sigma) regulates the critical process called engraftment, meaning how HSCs start to grow and make health blood cells after transplantation.

Mamle Quarmyne, a graduate student the lab of Dr. Chute and first author of the study, demonstrated that PTP-sigma is produced (expressed) on a high percentage of mouse and human HSCs. She showed further that genetic deletion of PTP-sigma in mice markedly increased the ability of HSCs to engraft in transplanted mice.

In a complementary study, she demonstrated that selection of human blood HSCs which did not express PTP-sigma led to a 15-fold increase in HSC engraftment in transplanted immune-deficient mice. Taken together, these studies showed that PTP-sigma suppresses normal HSC engraftment capacity and targeted blockade of PTP-sigma can substantially improve mouse and human HSC engraftment after transplantation.

Chute and colleagues showed further that PTP-sigma regulates HSC function by suppressing a protein, RAC1, which is known to promote HSC engraftment after transplantation.

These findings have tremendous therapeutic potential since we have identified a new receptor on HSCs, PTP-sigma, which can be specifically targeted as a means to potently increase the engraftment of transplanted HSCs in patients, said Chute, senior author of the study and UCLA Professor of Hematology/Oncology and Radiation Oncology. This approach can also potentially accelerate hematologic recovery in cancer patients receiving chemotherapy and/or radiation, which also suppress the blood and immune systems.

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UCLA Researchers Unlock Protein Key to Harnessing Regenerative Power of Blood Stem Cells

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Previous studieshaveunsuccessfullytried to producenerve cells from embryonic stem cells For the recent study, a team of USresearchers used adult tissue instead They were able to reprogram ordinary skin cells into induced stem cells Scientistsat Harvard Medical School in Massachusetts used a cocktail of proteins called transcription factors that control the activity of genes Study could help reveal the origins of pain and develop better drugs

By Sarah Griffiths for MailOnline

Published: 13:04 EST, 24 November 2014 | Updated: 13:16 EST, 24 November 2014

Pain is a complex and unpleasant sensation, which some people feel more acutely than others - and its origins remain largely a mystery.

Now, scientists have created pain in a dish by converting skin cells into sensitive neurons in a bid to learn more about these sensations.

The lab-created nerve cells respond to a range of different kinds of pain stimulation, including physical injury, chronic inflammation and cancer chemotherapy.

Scientists have created pain in a dish by converting skin cells into sensitive neurons (illustrated) in a bid to learn more about its origins.In the future, the research could be used to develop better pain-relieving drugs

And in the future, the custom-made neurons could be used to investigate the origins of pain and develop better pain-relieving drugs.

The work follows years of unsuccessful attempts to produce nerve cells from embryonic stem cells, which are immature blank slate cells with the potential to become any tissue in the body.

A nociceptor is a receptor of a nerve cell that responds to potentially damaging stimuli by sending signals to the spinal cord and brain.

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London: Scientists have created "pain in a dish" by converting skin cells into sensitive neurons.

The laboratory-generated nerve cells respond to a range of different kinds of pain stimulation, including physical injury, chronic inflammation and cancer chemotherapy.

In future they could be used to investigate the origins of pain and develop better pain-relieving drugs.

The work followed years of unsuccessful attempts to produce nerve cells from embryonic stem cells, immature "blank slate" cells with the potential to become any tissue in the body.

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A turning point came with the development of technology that allowed ordinary skin cells to be reprogrammed into "induced" stem cells.

A team led by Dr Clifford Woolf at Harvard Medical School used a cocktail of "transcription factors" - proteins that control the activity of genes - to transform mouse and human skin cells directly into pain-sensing neurons.

The researchers, whose findings are reported in the journal Nature Neuroscience, were able to model pain hypersensitivity experienced by patients who donated skin cells to the study.

Dr Woolf said: "I think the ability to make human pain neurons for the pain field is going to be very important. Furthermore, our failure with embryonic stem cells led us to work with adult tissue samples, making the technology much more clinically relevant since these are easy to collect from patients suffering from different kinds of pain."

The researchers produced "nociceptors", sensory nerve endings that respond to potentially damaging stimuli by sending pain signals to the spinal cord and brain.

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Young guys in large vehicles most likely to survive crash Young guys in large vehicles most likely to survive crash

Driving a large vehicle and being a young male are among the factors that improve a person's chances of surviving a car crash, a new study finds.

Driving a large vehicle and being a young male are among the factors that improve a person's chances of surviving a car crash, a new study finds.

Jogging helps seniors maintain their ability to walk, a new study finds.

Jogging helps seniors maintain their ability to walk, a new study finds.

Researchers have discovered the stem cells that allow your nails to grow back after you lose them.

Researchers have discovered the stem cells that allow your nails to grow back after you lose them.

The holidays can be a challenge for families of children with autism because sensory overload can trigger major meltdowns, an expert says.

The holidays can be a challenge for families of children with autism because sensory overload can trigger major meltdowns, an expert says.

A brain abnormality may be responsible for more than 40 percent of deaths from sudden infant death syndrome (SIDS), a new study suggests.

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Researchers find stem cells that help nails regenerate

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Researchers found stem cells in mouse nails that performed two roles They cause nails to grow, and focus on repair when it is lost or injured The experts tracked how stem cells in the nails of mice split and grow It is hoped the same cells could be manipulated to grow tissue in other body parts

By Ellie Zolfagharifard for MailOnline

Published: 10:23 EST, 24 November 2014 | Updated: 10:23 EST, 24 November 2014

The blue-tailed skink has the remarkable ability to lose its tail to distract predators, and then grow a new one.

And someday, thanks to cells found in our nails, humans could have similar lizard-like abilities that will help us regrow lost limbs.

Researchers in the US recently found unique stem cells in nails that perform two roles - they cause nails to grow, and they focus on nail repair when it is lost or injured.

Researchers in the US recently found unique stem cells (shown in the above animation) in nails that perform two roles; they cause nails to grow, and focus on nail repair when it is lost or injured

The researchers claim these stem cells could be manipulated to grow tissue for other body parts, helping to someday recover lost limbs or organs.

The elusive stem cells were found at the University of Southern California by attaching dyes as 'labels' on mouse nail cells.

Many of these cells repeatedly divided, diluting the dyes and labels in the process.

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Could nails help us regrow LIMBS? Stem cells found on fingers and toes could someday give humans lizard-like abilities

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Scientists have created pain in a dish by converting skin cells into sensitive neurons.

The laboratory-generated nerve cells respond to a range of different kinds of pain stimulation, including physical injury, chronic inflammation, and cancer chemotherapy.

In future they could be used to investigate the origins of pain and develop better pain-relieving drugs.

The work followed years of unsuccessful attempts to produce nerve cells from embryonic stem cells, immature blank slate cells with the potential to become any tissue in the body.

A turning point came with the development of technology that allowed ordinary skin cells to be re-programmed into induced stem cells.

A team led by Dr Clifford Woolf at Harvard Medical School used a cocktail of transcription factors proteins that control the activity of genes to transform mouse and human skin cells directly into pain-sensing neurons.

The researchers, whose findings are reported in the journal Nature Neuroscience, were able to model pain hypersensitivity experienced by patients who donated skin cells to the study.

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Scientists have created 'pain in a dish'

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Newswise LA JOLLA, CANovember 24, 2014A team led by scientists from The Scripps Research Institute (TSRI) has found a simple method to convert human skin cells into the specialized neurons that detect pain, itch, touch and other bodily sensations. These neurons are also affected by spinal cord injury and involved in Friedreichs ataxia, a devastating and currently incurable neurodegenerative disease that largely strikes children.

The discovery allows this broad class of human neurons and their sensory mechanisms to be studied relatively easily in the laboratory. The induced sensory neurons generated by this method should also be useful in the testing of potential new therapies for pain, itch and related conditions.

Following on the work of TSRI Professor Ardem Patapoutian, who has identified many of the genes that endow these neurons with selective responses to temperature, pain and pressure, we have found a way to produce induced sensory neurons from humans where these genes can be expressed in their normal cellular environment, said Associate Professor Kristin K. Baldwin, an investigator in TSRIs Dorris Neuroscience Center. This method is rapid, robust and scalable. Therefore we hope that these induced sensory neurons will allow our group and others to identify new compounds that block pain and itch and to better understand and treat neurodegenerative disease and spinal cord injury.

The report by Baldwins team appears as an advance online publication in Nature Neuroscience on November 24, 2014.

In Search of a Better Model

The neurons that can be made with the new technique normally reside in clusters called dorsal root ganglia (DRG) along the outer spine. DRG sensory neurons extend their nerve fibers into the skin, muscle and joints all over the body, where they variously detect gentle touch, painful touch, heat, cold, wounds and inflammation, itch-inducing substances, chemical irritants, vibrations, the fullness of the bladder and colon, and even information about how the body and its limbs are positioned. Recently these neurons have also been linked to aging and to autoimmune disease.

Because of the difficulties involved in harvesting and culturing adult human neurons, most research on DRG neurons has been done in mice. But mice are of limited use in understanding the human version of this broad somatosensory system.

Mouse models dont represent the full diversity of the human response, said Joel W. Blanchard, a PhD candidate in the Baldwin laboratory who was co-lead author of the study with Research Associate Kevin T. Eade.

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Pain and Itch in a Dish

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November 25, 2014

Chuck Bednar for redOrbit.com Your Universe Online

Two different teams of researchers, one led by scientists from The Scripps Research Institute (TSRI) and the other involving members of the Harvard Stem Cell Institute (HSCI) have discovered ways to create the neurons that detect pain, itch and other sensations in laboratory conditions out of human and mouse skin cells.

The TSRI study, which was published online Monday in the journal Nature Neuroscience, used what the authors referred to as a simple technique to create neurons that normally reside in clusters called dorsal root ganglia (DRG) along the outer spine. Those neurons are often affected by spinal cord injuries and a neurodegenerative condition known as Friedreichs ataxia.

According to the researchers, DRG sensory neurons extend their nerve fibers into skin, muscle and joints located throughout the body. The neurons are capable of alternately detecting gentle touch, painful contact, heat, cold, wounds, inflammation, chemical irritants, itch-inducing agents and fullness of the bowels and bladder. They also relay information about the position of the body and limbs, and have been linked to aging and autoimmune disease.

Due to the difficulties involved in culturing adult human neurons, most research relating to DRG neurons has been done in mice. However, the rodents are of limited use in understanding the human version of this somatosensory system, TSRI explained. The new discovery will allow this type of human neurons and their associated sensory mechanisms to be studied with relative ease in laboratory conditions, according to the study authors.

We have found a way to produce induced sensory neurons from humans where these genes can be expressed in their normal cellular environment, associate professor Kristin K. Baldwin, an investigator in TSRIs Dorris Neuroscience Center, said in a statement. This method is rapid, robust and scalable. Therefore we hope that these induced sensory neurons will allow our group and others to identify new compounds that block pain and itch and to better understand and treat neurodegenerative disease and spinal cord injury.

Similarly, the HSCI-led study, which included experts from Boston Childrens Hospital (BCH) and Harvards Department of Stem Cell and Regenerative Biology (HSCRB), was able to successfully convert mouse and human skin cells into pain-sensing neurons that responded to several different types of stimuli responsible for causing both acute and inflammatory pain.

The authors of this study, which also appeared in Wednesdays online edition of Nature Neuroscience, said that their research could help scientists better understand the different types of pain that we experience, as well as better identify why people respond to pain in different ways and why some individuals are more or less likely to develop chronic pain. It could also result in the development of improved pain-relieving medications.

The six-year project resulted in the creation of neuronal pain receptors that respond to both the types of intense stimuli triggered by a physical injury, and the more subtle stimuli triggered by inflammation which results in pain tenderness. The researchers report that the fact the neurons can respond to both the gross and fine forms of stimulation which produce separate types of pain in humans confirm that they are functionally normal.

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Pain-Sensing Neurons Created From Human, Mouse Skin Cells

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24-Nov-2014

Contact: Jen Middleton jen.middleton@ed.ac.uk 44-131-650-6514 University of Edinburgh @uniofedinburgh

Liver disease patients could be helped by a new cell therapy to treat the condition.

Researchers from the University of Edinburgh have received funding to start testing the therapy in patients within the next year.

It will be the world's first clinical trial of a new type of cell therapy to treat liver cirrhosis, a common disease where scar tissue forms in the organ as a result of long-term damage.

The Edinburgh team has received funding from the Medical Research Council and Innovate UK to investigate the disease, which claims 4000 lives in the UK each year.

The only successful treatment for end-stage liver cirrhosis at present is an organ transplant. The new therapy is based on a type of white blood cell called a macrophage, which is key to normal repair processes in the liver.

Macrophages reduce scar tissue and stimulate the liver's own stem cells to expand and form into healthy new liver cells.

Scientists will take cells from the blood of patients with liver cirrhosis and turn them into macrophages in the lab using chemical signals.

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Cell therapy trial offers new hope to liver disease patients

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Freeport, Grand Bahama (PRWEB) November 25, 2014

Okyanos, the leader in cell therapy, announced the adoption of body-jet eco for use in the harvesting of adult stem cells for use in cell therapy. The Okyanos procedure begins with the extraction of a small amount of body fat, a process done using advanced water-jet assisted liposuction technology. The body-jet eco system is utilized during this procedure and allows a larger number of viable adult stem cells to be harvested. After separating the cells from fat tissue, the Okyanos medical doctor immediately injects these cells into and around the area needing treatment allowing targeting of the cells to repair damaged tissue.

According to Dr. Todd Malan, Chief Cell Therapy Officer and General Surgeon at Okyanos, who was involved in helping develop the appropriate settings of the body-jet eco use in adult stem cell harvesting, The body-jet eco was used during our first stem cell procedure at Okyanos. It performed flawlessly as expected and we feel it meets our tough standards. This is much gentler and more precise, making the overall procedure faster with less trauma to the surrounding tissue and less diversion of the adult stem cells from the intended area.

The body-jet eco is part of the water-jet assisted liposuction (WAL) family of devices, which detaches the fat gently from the tissue structure using a flat, fan-shaped water jet spray. The surrounding connective tissue, nerves and blood vessels remain in-tact which makes this procedure much gentler on the patient and leads to a quicker recovery with less pain medication required. The WAL process has a very high viability of fat cells and stem cells with a high take rate after fat grafting. The WAL family of devices is manufactured by human med AG with its headquarters in Schwerin, Germany, and distributed in North America by CAREstream America with its headquarters in Altamonte Springs, Florida.

Because the treatment is minimally invasive it requires that patients be under only moderate sedation. Post-procedural recovery consists of rest in a private suite for several hours that comfortably accommodates up to 3 family members.

Patients can contact Okyanos at http://www.okyanos.com or by calling toll free at 1-855-659-2667.

About CAREstream America: CAREstream America began in 2013 and is a division of CAREstream Medical Ltd, which has serviced Canadian customers respiratory and anesthesia needs for over 15 years. CAREstream America retains North American distribution rights to the full water-jet assisted human med AG product line. CAREstream America is the premier distributor of Aesthetic product lines ranging from water-jet assisted technology to vascular access imaging to nitrous oxide analgesia which help shape the body, showcase the veins and relieve the pain and anxiety of aesthetic procedures.

About Dr. Malan: Todd Malan, MD, serves as the Chief Cell Therapy Officer and General Surgeon at Okyanos Heart Institute, overseeing the liposuction and stem cell isolation step of the Okyanos cardiac cell therapy process. Known as an innovative cosmetic surgeon, Dr. Malans practices combine the most progressive and minimally-traumatic liposuction technologies available. A pioneer of fat-derived stem cell therapies, he became the first physician in the US to utilize stem cells from fat for soft tissue reconstruction in October, 2009, combining water-assisted liposuction, fat transfer and adult stem cell technologies.

About Okyanos: (Oh key AH nos) Based in Freeport, Grand Bahama, Okyanos brings a new standard of care and a better quality of life to patients with coronary artery disease, tissue ischemia, autoimmune diseases, and other chronic neurological and orthopedic conditions. Okyanos Cell Therapy utilizes a unique blend of stem and regenerative cells derived from patients own adipose (fat) tissue which helps improve blood flow, moderate destructive immune response and prevent further cell death. Okyanos is fully licensed under the Bahamas Stem Cell Therapy and Research Act and adheres to U.S. surgical center standards. The literary name Okyanos, the Greek god of the river Okyanos, symbolizes restoration of blood flow.

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Okyanos Adopts WAL/ body-jet eco for Use in Cell Therapy

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24-Nov-2014

Contact: Sophia Haque Sophia.Haque@rhul.ac.uk 44-178-444-3552 Royal Holloway, University of London @RoyalHolloway

Scientists have discovered a gene that protects people against one of the major causes of stroke in young and middle-aged adults and could hold the key to new treatments.

Researchers from Royal Holloway, University of London, together with an international team from across the United States and Europe, have found that people with a specific variant of a gene, known as PHACTR1, are at reduced risk of suffering cervical artery dissection, which is caused by a tear in an artery that leads to the brain.

The new discovery, published in the journal Nature Genetics, could lead to new treatments and prevention strategies for the disease, which is a major cause of stroke in young adults. The same gene variant has also been identified as a protector against migraines and affects the risk of heart attack.

Professor Pankaj Sharma, from the School of Biological Sciences at Royal Holloway, said: "This is an important breakthrough. Our findings provide us with a greater understanding of how this region of the genome appears to influence key vascular functions, which could have major implications for the treatment of these severe and disabling conditions. "

In the largest study of its kind ever undertaken, researchers from around the world screened the entire genome of 1,400 patients with cervical artery dissection, along with 14,400 people without the disease. Cervical artery dissection can lead to compression of adjacent nerves and to blood clotting, potentially causing blockage of vessels and brain damage.

Professor Sharma, Professor of Clinical Neurology at Royal Holloway, added: "Further genetic analyses and worldwide collaborations of this kind provide hope of pinpointing the underlying mechanisms that cause stroke. The Bio-Repository of DNA in Stroke (BRAINS) study I am leading is creating a large stroke DNA biobank which will give an exciting opportunity to identify the genes directly linked to the condition."

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25-Nov-2014

Contact: Press Office pressoffice@leeds.ac.uk 01-133-434-031 University of Leeds @universityleeds

Researchers at the University of Leeds have shed light on a gene mutation linked to autistic traits.

The team already knew that some people with autism were deficient in a gene called neurexin-II. To investigate whether the gene was associated with autism symptoms, the Leeds team studied mice with the same defect.

They found behavioural features that were similar to autism symptoms, including a lack of sociability or interest in other mice.

Dr Steven Clapcote, Lecturer in Pharmacology in the University's Faculty of Biological Sciences, who led the study published in the journal Translational Psychiatry today, said: "In other respects, these mice were functioning normally. The gene deficiency mapped closely with certain autism symptoms."

Dr Clapcote added: "This is exciting because we now have an animal model to investigate new treatments for autism."

The researchers also looked at how the absence of neurexin-II was affecting the brain.

Co-author Dr James Dachtler, Wellcome Trust Junior Investigator Development Fellow in the Faculty of Biological Sciences at Leeds, said: "We found that the affected mice had lower levels of a protein called Munc18-1 in the brain. Munc18-1 usually helps to release neurotransmitter chemicals across synaptic connections in the brain, so neurotransmitter release could be impaired in the affected mice and possibly in some cases of autism."

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Missing gene linked to autism

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Genetic Engineering: The Super Banana
Project for APES. By Sydney Hsueh and Jenny Lee.

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