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Stem | Treatments | DBA | NCBDDD | CDC

In Diamond Blackfan anemia (DBA), the bone marrow (the center of the bone where blood cells are made) does not make enough red blood cells. Red blood cells carry oxygen to all of the organs in the body. When the number of red blood cells is low, the organs in the body may not get the oxygen they need.

A stem cell transplant can help restore the marrows ability to make red blood cells, and it is currently the only known cure for DBA.

However, physical problems associated with DBA but not related to the bone marrow, such as a cleft palate or a heart defect, will not change. In addition, the persons genes will still have DBA, so there is still a 50 percent chance of passing the disorder to any future children, if fertility is retained.

Stem cell transplant is an expensive and potentially dangerous procedure that can lead to death or severe chronic illness in some patients. For this reason, it typically is not a first line treatment. Other treatments, such as steroid medicine (corticosteroid) therapy and blood transfusion therapy, tend to be used first, if possible. Before deciding to have a transplant, people with DBA should discuss the pros and cons of this procedure with their medical team.

All of the blood cells in the body start out as immature cells called blood-forming stem cells. Stem cells are able to grow into other blood cells that mature and function as needed in the body. Stem cells create the three main types of blood cells: red blood cells that carry oxygen throughout the body, white blood cells that fight infection, and platelets that help the blood to clot and prevent abnormal bleeding.

Stem cells are located in three placesbone marrow (the spongy center of the bone where blood cells are made), peripheral blood (found in blood vessels throughout the body), and cord blood (found in the umbilical cord and collected after a babys birth). Stem cells for transplantation are obtained from any of these three places.

A stem cell transplant (also commonly referred to as a bone marrow transplant), takes healthy stem cells from a donor and gives them to the patient through a central line in a vein in the chest. The bag of stem cells usually looks similar to a bag of blood used for blood transfusion. This is because it contains red blood cells. The goal of a stem cell transplant is to replace unhealthy stem cells with new healthy ones. If all goes well, these healthy stem cells find their way to the bone marrow and begin to function and produce blood cells normally (called an engraft). It often takes several weeks for this to happen.

For a person to be a donor, the donated stem cells must closely match the patients Human Leukocyte Antigen (HLA) type. HLA markers are special proteins found on most cells in the body. The immune system uses these proteins or markers to recognize which cells belong in the body and which do not. These markers are inherited from both parents. Special tests called HLA typing or HLA tissue typing determines whether the patient and the donor cells match.

Close family members such as brothers and sisters (but rarely parents) are often used as donors because they are most likely to match the patients tissue type. Each sibling who has the same parents has a 25 percent chance of matching the patients tissue type. However, if a sibling also has one of the DBA genes, it will be passed to the recipient during the transplant. It is important to screen potential donors for DBA genes because there is a risk of transfer from a sibling who has the gene for DBA, but who has no symptoms.

If there is not a brother or sister or other family member who is a match for the patient, the transplant center can check the National Marrow Donor Program (NMDP) registry for an unrelated matching donor. In some instances, unrelated donors may be adequately matched and able to donate. However, the rate of successful transplant from matched unrelated donors (MUDs) is lower. The best scenario is an identically matched, sibling who does not have DBA. The National Marrow Donor Program (NMDP) is a database containing the tissue types of more than six million potential volunteer donors. Visit the program online to learn more: http://www.marrow.org/index.html.

For DBA patients, a stem cell transplant is intended to restore the marrows ability to make red blood cells. Once the body starts producing red blood cells, the patient may experience a decrease in signs and symptoms of anemia, such as tiredness and paleness. Often times, stem cell transplant may result in a cure of DBA and, when successful, may often extend a persons life and improve the quality of life they are able to enjoy. The person will no longer require long-term steroid medicine or blood transfusions. The persons blood type will actually change to that of the donor.

A stem cell transplant is a complex procedure with risks. Although some people with DBA experience few problems with transplant, others experience many problems and must endure frequent tests and hospitalizations. Before a stem cell transplant, the patient receives chemotherapy and occasionally radiation therapy to destroy their unhealthy stem cells. This is called a preparative regimen. Some side effects, such as nausea, vomiting, fatigue, loss of appetite, mouth sores, hair loss, and skin reactions may be due to the preparative regimen.

Several complications, some potentially fatal, can occur as a result of a stem cell transplant:

After the transplant, before the new marrow has started to grow, the number of white blood cells is low and the immune system (how the body fights infection and stays healthy) is very weak. During this time, the body is susceptible to infections, sometimes from the bacteria that live in the patients own body. Therefore, infections that normally would not be harmful can be very serious, and patients can die of them. Bacterial, viral, and fungal infections are often seen following transplant.

Graft-versus-host disease (GVHD) occurs when the new stem cells (from the donor) do not recognize the patients cells and attacks them, leading to skin rashes, diarrhea, or liver abnormalities. GVHD can be acute or chronic and range in severity from mild to moderate to severe. Medicines are given to prevent GVHD. Mild and moderate GVHD can be treated successfully with drugs and does not increase the risk of the patient dying. The most severe degree of GVHD is less frequent, but very serious, and patients can die of this complication. A close match between the donor and recipient will reduce the risk for GVHD, thereby allowing a greater chance for the donor stem cells to produce normal blood cells without complications.

Some of the more common long-term risks of stem cell transplant include infertility (the inability to produce children) and cataracts (clouding of the lens of the eye, which can be fixed with surgery). Less common effects include long-term damage to organs such as the liver, kidneys, lungs, or heart, and the occurrence of cancers.

After the transplant regular check-ups are needed to identify and take care of any problems that may arise after a patient has a stem cell transplant. Initially, follow-up care involves clinic visits once or twice a week with platelet or blood transfusions, as needed. Long-term follow-up is necessary to maintain a healthy lifestyle, ensure that the DBA continues to be in remission, and ensure that any late effects of the transplant or DBA are caught early. During long-term follow up, growth and development, immunizations, fertility, and mental and physical health are monitored.

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Stem | Treatments | DBA | NCBDDD | CDC

Recommendation and review posted by Bethany Smith

GeneDx | Genetic Testing Company | The DNA Diagnostic Experts

GeneDx has new and expanded panels for winter 2015!

To read more, please click the links below:

New Testing -Winter 2015

Expanded Testing -Winter 2015

GeneDx has published two studies in Genetics in Medicine. Congratulations to our GeneDx authors!

To read more, please click on the links below:

Recently the American College of Medical Genetics published new guidelines for the interpretation of genetic sequence variants (Richards et al. (2015) Genetics in Medicine: Official Journal of the American College Of Medical Genetics: (PMID: 25741868). The process of variant interpretation is dynamic and challenging. The purpose of the guidelines is to standardize the terminology used by clinical laboratories when describing variants, and to establish specific criteria that should be utilized when interpreting sequencing variants. On Wednesday, September 30, 2015, GeneDx transitioned to using the new ACMG terminology in our reports. The chart below outlines the new terminology as it relates to our previous report language. Additionally, over the next 6 months, GeneDx will be implementing the guidelines into our variant interpretations. Please continue to check our website for updated information and announcements as we move forward with the implementation of these new guidelines.

Likely benign Variants

Variants that are interpreted to be likely benign have multiple lines of evidence supporting the argument that they are not the cause of disease in an individual. Therefore, in accordance with the ACMG guidelines, as of Thursday, October 29, 2015, GeneDx will no longer routinely report likely benign variants in our reports. A list of benign and likely benign variants can be provided upon request.

Click on the link below to view the recent AMA videousedto educate and lobby against FDA regulation of laboratory developed tests with voice over done by our co-founder,Sherri Bale.

http://www.ama-assn.org/ama/pub/advocacy/topics/personalized-medicine.page

Interested in pursuing a career in genetic counseling? Please join us at our GeneDx Prospective GC Visitors Day, an event dedicated to providing you with inside information about the field of genetic counseling. Learn about the many roles of genetic counselors at GeneDx, engage in lively discussions and learn about becoming a more well-rounded GC graduate school applicant and career options in general.

Date: August 13, 2015

Time: 9-1pm ET

Location: GeneDx 207 Perry Parkway, Gaithersburg, MD 20877

RSVP: Meg Bradbury, MS, CGC, MSHS (mbradbury@genedx.com) by August 7, 2015

If you are not in the Maryland area please join us remotely! For further information please contact Mbradbury@genedx.com to RSVP and request a login to join us online.Please pass on to anyone who might be interested.

GeneDxs Genetic Counselors

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GeneDx | Genetic Testing Company | The DNA Diagnostic Experts

Recommendation and review posted by simmons

Genetic Testing Germantown MD – DNA Diagnostics Center

Alice Pare-Johnson

19737 Executive Park Circle Germantown, MD

Shelly Ava Mulkey

19737 EXECUTIVE PARK CIR GERMANTOWN, MD

Paul S Lewis

4 Professional Drive, Suite 145 Gaithersburg, MD

Gwyn Cara Hoerauf

301 S FREDERICK AVE GAITHERSBURG, MD

Elliott A Alman

183 Mill Green Ave. Suite 100 Gaithersburg, MD

Alice Ann Pare-Johnson

19737 EXECUTIVE PARK CIR GERMANTOWN, MD

Karen Hulme Alegi

4 Professional Drive, Suite 145 Gaithersburg, MD

Stuart Muntzing Skok

4 PROFESSIONAL DR STE 145 GAITHERSBURG, MD

Kristina Badalian

16061 COMPRINT CIR GAITHERSBURG, MD

Erin Leigh Rosenthal

16061 COMPRINT CIR GAITHERSBURG, MD

People in Maryland shared their opinions about Paternity Testing

Do you personally know of anyone who has undergone paternity/maternity testing?

Yes: 67%

No: 28%

Unsure: 3%

Have you undergone paternity or maternity testing?

Yes: 28%

No: 67%

Rather not say: 3%

What was the reason that you underwent paternity/maternity testing?

Ordered by the court to prove I was/was not the parent: 25%

For my own proof that I was/was not the parent: 37%

To prove to the mother/father/child that I was/was not the parent: 0%

Other: 0%

Rather not say: 37%

Have any of your immediate family members ever undergone paternity/maternity testing?

Yes: 25%

No: 57%

Unsure: 17%

Please rate your level of agreement/disagreement with the following statement: It is a violation of constitutional rights and/or human rights for a court to order a person to undergo a paternity/maternity test.

Completely disagree: 32%

Mostly disagree: 17%

Neither agree or disagree: 32%

Mostly agree: 7%

Completely agree: 10%

Regarding the results of paternity/maternity tests, how well do you trust the results?

Completely distrust: 7%

Distrust: 7%

Unsure whether they are trustworthy or not: 25%

Trust: 42%

Completely trust: 17%

Source: Survey.com

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Genetic Testing Germantown MD - DNA Diagnostics Center

Recommendation and review posted by simmons

An improved protocol for isolation and culture of …

Summary

Mesenchymal stem cells (MSCs) from bone marrow are main cell source for tissue repair and engineering, and vehicles of cell-based gene therapy. Unlike other species, mouse bone marrow derived MSCs (BM-MSCs) are difficult to harvest and grow due to the low MSCs yield. We report here a standardised, reliable, and easy-to-perform protocol for isolation and culture of mouse BM-MSCs. There are five main features of this protocol. (1) After flushing bone marrow out of the marrow cavity, we cultured the cells with fat mass without filtering and washing them. Our method is simply keeping the MSCs in their initial niche with minimal disturbance. (2) Our culture medium is not supplemented with any additional growth factor. (3) Our method does not need to separate cells using flow cytometry or immunomagnetic sorting techniques. (4) Our method has been carefully tested in several mouse strains and the results are reproducible. (5) We have optimised this protocol, and list detailed potential problems and trouble-shooting tricks. Using our protocol, the isolated mouse BM-MSCs were strongly positive for CD44 and CD90, negative CD45 and CD31, and exhibited tri-lineage differentiation potentials. Compared with the commonly used protocol, our protocol had higher success rate of establishing the mouse BM-MSCs in culture. Our protocol may be a simple, reliable, and alternative method for culturing MSCs from mouse bone marrow tissues.

Mesenchymal stem cells (MSCs) are multipotent stem cells that have the potential to self-renew and differentiate into a variety of specialised cell types such as osteoblasts, chondrocytes, adipocytes, and neurons [1]and[2]. MSCs are easily accessible, expandable, immunosuppressive and they do not elicit immediate immune responses [3]and[4]. Therefore, MSCs are an attractive cell source for tissue engineering and vehicles of cell therapy.

MSCs can be isolated from various sources such as adipose tissue, tendon, peripheral blood, and cord blood [5], [6]and[7]. Bone marrow (BM) is the most common source of MSCs. MSCs have been successfully isolated and characterised from many species including mouse, rat, rabbit, dog, sheep, pig, and human [8], [9], [10], [11]and[12]. Mice are one of the most commonly used experimental animals in biology and medicine primarily because they are mammals, small, inexpensive, easily maintained, can reproduce quickly, and share a high degree of homology with humans [13]. However, the isolation and purification of MSCs from mouse bone marrow is more difficult than other species due to their heterogeneity and low percentage in the bone marrow [1], [14]and[15].

Two main stem cell populations and their progenies, haematopoietic stem cells and BM-MSCs, are the main residents of bone marrow [1]and[15]. BM-MSCs are usually isolated and purified through their physical adherence to the plastic cell culture plate [16]. Several techniques have been used to purify or enrich MSCs including antibody-based cell sorting [17], low and high-density culture techniques [18]and[19], positive and negative selection method [20], frequent medium changes [21], and enzymatic digestion approach [22]. However, they all had some short falls: the standard MSCs culture method based on plastic adherence has been confirmed to have lower successful rate [23]; whereas the cell sorting approach reduced the osteogenic potentials of MSCs [17]. Negative selection method leads to granulocytemonocyte lineage cells reappearing after 1 week of culture [24]. Cells obtained using a positive selection method show higher proliferation ability compared with the negative selection method, but the method was only repeated in the C57B1/6 mice and failed to repeat in other strains of mice [25]. Frequent medium change method is inconvenient because it is required to change the culture medium every 8 hours during the first 72 hours of the initial culture [21]. Therefore, an easy and effective protocol for isolation of mouse BM-MSCs is needed.

Reagents used included: 0.25% trypsinEDTA (1) with phenol red; penicillinstreptomycin neomycin (PSN; Life Technologies, Carlsbad, CA, USA) antibiotic mixture; foetal bovine serum, qualified, heat-inactivated (Life Technologies); minimal essential medium (MEM) , nucleosides, powder (Life Technologies); and NaHCO3 (SigmaAldrich, St Louis, MO, USA).

Stock of -MEM was made up with 1 bag of -MEM powder (1L) and 2.2g NaHCO3 in 1000mL of Milli-Q water, adjusted to pH 7.2, filtered to sterilise, and stored for 12 weeks at 4C. Complete -MEM medium was -MEM medium stock supplemented with 15% foetal bovine serum and 1% PSN, stored at 4C. Phosphate-buffered saline (PBS) included: NaCl 8.0g, KCl 0.2g, KH2PO4 0.24g, and Na2HPO4 1.44g in 1L Milli-Q water (pH 7.4, sterilised and stored at 4C).

In this study, two mouse strains (ICR and C57) with different ages (4 weeks and 8 weeks, males and females) were tested using our protocol. All mice were purchased from and housed in a designated and government approved animal facility at The Chinese University Hong Kong, Hong Kong SAR, China, in according to The Chinese University Hong Kong's animal experimental regulations. All efforts were made to minimise animal suffering.

Mice aged 4 weeks or 8 weeks are terminated by cervical dislocation and placed in a 100-mm cell culture dish (Becton Dickinson, Franklin Lakes, NJ, USA), where the whole body is soaked in 70% (v/v) ethanol for 2 minutes, and then the mouse is transferred to a new dish (Fig.1A). Four claws are dissected at the ankle and carpal joints, and incisions made around the connection between hindlimbs and trunk, forelimbs, and trunk. The whole skin is then removed from the hind limbs and forelimbs by pulling toward the cutting site of the claw. Muscles, ligaments, and tendons are carefully disassociated from tibias, femurs, and humeri using microdissecting scissors and surgical scalpel. Tibias, femurs, and humeri are dissected by cutting at the joints, and the bones are transferred onto sterile gauze. Bones are carefully scrubbed to remove the residual soft tissues (Fig.1B), and transferred to a 100-mm sterile culture dish with 10mL complete -MEM medium on ice (Fig.1C). All samples are processed within 30 minutes following animal death to ensure high cell viability. The soft tissues are completely dissociated from the bones to avoid contamination.

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An improved protocol for isolation and culture of ...

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Adipocyte Lineage Cells Contribute to the Skin Stem Cell …

Summary

In mammalian skin, multiple types of resident cells are required to create a functional tissue and support tissue homeostasis and regeneration. The cells that compose the epithelial stem cell niche for skin homeostasis and regeneration are not well defined. Here, we identify adipose precursor cells within the skin and demonstrate that their dynamic regeneration parallels the activation of skin stem cells. Functional analysis of adipocyte lineage cells in mice with defects in adipogenesis and in transplantation experiments revealed that intradermal adipocyte lineage cells are necessary and sufficient to drive follicular stem cell activation. Furthermore, we implicate PDGF expression by immature adipocyte cells in the regulation of follicular stem cell activity. These data highlight adipogenic cells as skin niche cells that positively regulate skin stem cell activity, and suggest that adipocyte lineage cells may alter epithelial stem cell function clinically.

Resident skin adipocytes regenerate de novo in parallel with the hair cycle Immature adipocytes are necessary and sufficient for hair follicle regeneration Immature adipocytes express PDGF ligands to promote hair regeneration

Tissue niches are essential for controlling stem cell self-renewal and differentiation (Voog and Jones, 2010). Epithelial lineages in the skin are maintained by stem cells that exist in multiple tissue microenvironments (Blanpain and Fuchs, 2006). In particular, the niche for hair follicle stem cells, which reside within the bulge region of the hair follicle, promotes continual and repetitive regeneration of the follicle during the hair cycle. Specialized mesenchymal cells, the dermal papillae (DP), that are associated with the hair follicle can specify epithelial identity, and are thought to control follicular stem cell activity by releasing signaling molecules (Blanpain and Fuchs, 2006, Greco etal., 2009andRendl etal., 2005). Extrinsic signals, such as bone morphogenetic proteins (BMPs), fibroblast growth factors (FGFs), platelet derived growth factors (PDGFs) and Wnts can activate stem cell activity in the hair follicle (Blanpain and Fuchs, 2006, Greco etal., 2009andKarlsson etal., 1999). Yet, it remains unclear which cells establish the skin stem cell niche.

Multiple changes within the skin occur during the hair follicle's regenerative cycle (Blanpain and Fuchs, 2006). Following hair follicle morphogenesis (growth phase, anagen), the active portion of the follicle regresses (death phase, catagen), leaving the bulge region with a small hair germ that remains dormant during the resting phase (telogen) (Greco etal., 2009). Anagen induction in the next hair cycle is associated with bulge cell migration and proliferation in the hair germ to generate the highly proliferative cells at the base of the follicle (Greco etal., 2009andZhang etal., 2009). The activated stem cells then differentiate to form the inner root sheath and hair shaft for the new hair follicle.

During activation of hair growth, the expansion of the intradermal adipocyte layer in the skin doubles the skin's thickness (Butcher, 1934, Chase etal., 1953andHansen etal., 1984). The growth of the intradermal adipose depot could occur through adipocyte hypertrophy or adipogenesis. While adipocyte hypertrophy involves lipogenesis, adipogenesis requires the proliferation and specification of adipocyte precursor cells into preadipocytes, which exit from the cell cycle and differentiate into mature, lipid-laden adipocytes (Rodeheffer etal., 2008andRosen and Spiegelman, 2000). Adipogenesis requires the upregulation and transcriptional activity of the nuclear receptor, PPAR in preadipoctyes (Rosen and Spiegelman, 2000), which can be blocked by specific antagonists, bisphenol A diglycidyl ether (BADGE) and GW9662 (Bendixen etal., 2001andWright etal., 2000). Whether intradermal adipocytes undergo hypertrophy and/or adipogenesis during the hair cycle is unknown.

Recent data shows that during the hair cycle, mature intradermal adipocytes express BMP2 mRNA ( Plikus etal., 2008), an inhibitory signal for bulge cell activity ( Blanpain and Fuchs, 2006andPlikus etal., 2008). In addition, reduced intradermal adipose tissue in transgenic mice overexpressing human apolipoprotein C-I in the skin (Jong etal., 1998), fatty acid transport protein (FATP)-4-deficient mice ( Herrmann etal., 2003), and Dgat1/ or Dgat2/ mice ( Chen etal., 2002andStone etal., 2004) results in abnormalities in skin structure and function such as hair loss, epidermal hyperplasia, and abnormal sebaceous gland function. While these data suggest a regulatory role for adipocytes in the skin, these mutations affect multiple cell types in the skin. Thus, the precise role of intradermal adipocytes in skin biology remains unclear.

In this study, we analyze the role of intradermal adipocytes on follicular stem cell activity. Using histological and functional analysis of cell populations of the adipocyte lineage in the skin, we identify a dynamic process of adipogenesis that parallels the activation of hair follicle stem cells. Functional analysis of adipocyte lineage cells in mice with defects in adipogenesis and in transplantation experiments revealed that immature adipocyte cells are necessary and sufficient to drive follicular stem cell activation. Finally, we implicate PDGF signals produced by immature intradermal adipocyte lineage cells in controlling hair regeneration. These data define active roles for intradermal adipocytes in the regulation of the skin tissue microenvironment.

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Adipocyte Lineage Cells Contribute to the Skin Stem Cell ...

Recommendation and review posted by simmons

Association of hypogonadism with vitamin D status: the …

OBJECTIVE:

Interrelationships between hormones of the hypothalamic-pituitary-testicular (HPT) axis, hypogonadism, vitamin D and seasonality remain poorly defined. We investigated whether HPT axis hormones and hypogonadism are associated with serum levels of 25-hydroxyvitamin D (25(OH)D) in men.

Cross-sectional survey of 3369 community-dwelling men aged 40-79 years in eight European centres. Testosterone (T), oestradiol (E(2)) and dihydrotestosterone were measured by gas chromatography-mass spectrometry; LH, FSH, sex hormone binding globulin (SHBG), 25(OH)D and parathyroid hormone by immunoassay. Free T was calculated from total T, SHBG and albumin. Gonadal status was categorised as eugonadal (normal T/LH), secondary (low T, low/normal LH), primary (low T, elevated LH) and compensated (normal T, elevated LH) hypogonadism. Associations of HPT axis hormones with 25(OH)D were examined using linear regression and hypogonadism with vitamin D using multinomial logistic regression.

In univariate analyses, free T levels were lower (P=0.02) and E(2) and LH levels were higher (P<0.05) in men with vitamin D deficiency (25(OH)D <50nmol/l). 25(OH)D was positively associated with total and free T and negatively with E(2) and LH in age- and centre-adjusted linear regressions. After adjusting for health and lifestyle factors, no significant associations were observed between 25(OH)D and individual hormones of the HPT axis. However, vitamin D deficiency was significantly associated with compensated (relative risk ratio (RRR)=1.52, P=0.03) and secondary hypogonadism (RRR=1.16, P=0.05). Seasonal variation was only observed for 25(OH)D (P<0.001).

Secondary and compensated hypogonadism were associated with vitamin D deficiency and the clinical significance of this relationship warrants further investigation.

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Association of hypogonadism with vitamin D status: the ...

Recommendation and review posted by simmons

Alcor Procedures – Alcor Life Extension Foundation

For a more detailed and technical pressentation of this subject, see Alcor Human Cryopreservation Protocol.

The purpose of cryonics is to preserve life. Alcor therefore intervenes in the dying process at the earliest moment that is legally possible. If proper procedures are followed immediately after the heart stops, then legal death need not impact the biology of cryonics or its prospects for success. For further information concerning this issue see Cardiopulmonary Support in Cryonics.

It is customary practice in medicine to discontinue care of terminal patients, and declare legal death, when the heart stops beating. The several minutes of time between when the heart stops and the brain dies (by conventional criteria) provides a window of opportunity for Alcor to artificially restore blood circulation and preserve brain viability even though a patient is legally deceased. Cryonics cases in which life support techniques are promptly used to maintain brain viability after the heart stops are considered to be ideal cases.

Alcor strongly encourages members who are terminally ill to relocate to cooperative hospice facilities in Scottsdale, Arizona. If relocation is not possible, Alcor may deploy equipment and a transport team to a remote location. As a dying patient's condition becomes critical, Alcor personnel wait nearby on a 24-hour basis. This is called "standby." When the heart stops beating, an independent nurse or physician pronounces legal death, and the Alcor team begins life support procedures as described below.

The patient is placed in an ice water bath, and blood circulation and breathing are artificially restored by a heart-lung resuscitator (HLR). The HLR, or "thumper," is a mechanical device used in emergency medicine to perform CPR. In cryonics, the term CPS (cardiopulmonary support) is used instead of CPR because the intent is to provide life support, not cardiac resuscitation. Because cryonics patients are legally deceased, Alcor can use methods that are not yet approved for conventional medical use. This enables Alcor to use new technologies that can support the brain longer and more effectively than traditional CPR. In particular, the combination of simultaneous compression-decompression CPS and rapid cooling are known to be especially effective for protecting the brain during cardiac arrest.

Intravenous lines are also established, and protective medications are administered. These include:

These drugs help maintain blood pressure during CPS, and protect the brain from "reperfusion" injury. Anesthesia reduces brain oxygen consumption, which further protects the brain.

The LUCAS chest compression device, shown in the photo at right, is used by Alcor to re-establish blood circulation and oxygenation in cryonics patients following cardiac arrest.

Alcor also uses the Michigan Instruments Thumper. Both devices are powered by pressurized oxygen, and restore blood flow much better than manual CPR.

If the patient is in a hospital where the administration is unwilling to allow cryonics procedures, the patient is moved to an alternate location while CPS and cooling are maintained without interruption. Femoral arteries and veins are surgically accessed and the patient is placed on cardiopulmonary bypass. This means that blood is circulated through a portable heart-lung machine (pictured below) that takes over the function of the patient's own heart and lungs. External CPS is no longer necessary, and is discontinued.

Within minutes, a heat exchanger in the heart-lung machine reduces the patient's temperature to a few degrees above the freezing point of water. Blood is also replaced with an organ preservation solution that is specially designed to support life at low temperature. If the patient is located outside of Arizona, they are packed in ice for air shipment to Alcor's facility in Scottsdale, Arizona.

This treatment is similar to procedures used by transplant surgeons to support the life of organs moved around the country for transplant, except that Alcor's procedures are applied to whole patients. Remarkably, studies show that whole animals can survive up to three hours of cold storage on ice using existing medical technology. Even longer periods can be survived if the preservation solution is continuously circulated. The MHP2 preservation solution used by Alcor was developed in 1984 during pioneering experiments in which animals were successfully recovered after 4 hours of bloodless perfusion at +4C.

After large blood vessels are surgically accessed, Alcor's Air Transportable Perfusion kit (ATP), shown in the photo below, is able to quickly cool the patient to temperatures at which oxygen is no longer necessary. The ATP also replaces blood with an organ preservation solution that supports life at low temperature (note the solution reservoir in the case on the left). See our online PDF manual (1.4 megs).

At Alcor major blood vessels are connected to a perfusion circuit by a physician or veterinary surgeon. The preferred vascular access points are the aortic arch and right auricle of the heart, which are accessed by thoracic surgery (median sternotomy). Traditionally, neuropreservation patients have been treated by this same procedure, except that the descending aorta was clamped. In 2000, Alcor began treating neuropreservation patients by directly accessing the carotid and vertebral arteries. This requires careful surgical transection of the spinal column because vertebral arteries are located within the column.

A base perfusate similar to the preservation solution used during transport is circulated through the patient at a temperature near 0C (the freezing point of water) for several minutes. This washes out any remaining blood. The cryoprotectant concentration is then linearly increased over 2 hours to one half the final target concentration. This slow introduction minimizes osmotic stress, and allows time for the cryoprotectant concentration to equilibrate (become the same) inside and outside cells. A rapid increase to the final concentration is then made, and the final concentration is held until the venous outflow concentration equals the target concentration (approximately one hour). Temperature, pressure, and cryoprotectant concentration data are continuously monitored and acquired by computer.

The status of the brain is visually monitored through two small holes in the skull made using a standard neurosurgical tool (14 mm Codman perforator). This permits verification of brain perfusion by dye injection, and observation of the osmotic response of the brain. A healthy brain slightly retracts from the skull in response to cryoprotectant perfusion. An injured brain swells, indicating that the blood-brain barrier has been compromised. This injury is often seen in patients who suffered a long period of untreated cardiac arrest.

The cryoprotectant solution Alcor uses to prevent freezing is a mixture of chemicals developed by mainstream cryobiologists for long-term banking of transplantable organs. The solution has been specifically validated for structural preservation of the brain. At the end of perfusion, these chemicals are present at a concentration of approximately 60%. In tissues adequately penetrated by the solution, the small amount of remaining water is not able to freeze. Instead of freezing, tissues vitrify when they are cooled to cryogenic temperatures. Variable penetration of the solution appears to result in a combination of vitrification and partial freezing in various body tissues, but total vitrification (ice-free preservation) of the brain, at least under ideal conditions.

After cryoprotective perfusion, patients are cooled under computer control by fans circulating nitrogen gas at a temperature near -125C. The goal is to cool all parts of the patient below -124C (the glass transition temperature) as quickly as possible to avoid any ice formation. This requires approximately three hours, at the end of which the patient will have "vitrified" (reached a stable ice-free state). The patient is then further cooled to -196C over approximately two weeks.

Patients are monitored by sensitive "crackphone" instruments during this long cooling period to detect fracturing events that tend to occur when large objects are cooled below the glass transition temperature. Contrary to media reports, fracturing is not a result of mishandling. It is a universal problem for large organs cooled to liquid nitrogen temperature. The federal government recently awarded $1.3 million dollars to specifically study the problem of fracturing during cryopreservation.

Currently Alcor patients are stored under liquid nitrogen at a temperature of -196C. The liquid nitrogen is held in vacuum-insulated dewars that require replenishment every few weeks. Liquid nitrogen is used because it is inexpensive and reliable.

Alcor is currently experimenting with an alternative "vapor phase" storage system that would retain the safety and reliability advantages of liquid nitrogen, but allow patients to be maintained at controlled temperatures warmer than liquid nitrogen. This will reduce or eliminate fracturing injury.

Unfortunately not all Alcor members can be reached at the moment their heart stops. In cases of sudden illness or serious injury, blood circulation may stop for hours before any cryonics procedures are possible. If a physician determines that an Alcor member in cardiac arrest cannot be resuscitated by current technology (i.e. declares legal death), the most important actions are administration of heparin (a drug that prevents blood clotting) followed by chest compressions to circulate the heparin, cooling with ice, and prompt shipment on ice to Alcor. Alcor will cooperate with local funeral directors in making these arrangements. Alcor will also negotiate with authorities to limit the extent of any autopsy that may be required. (Alcor recommends that all members execute a Religious Objection to Autopsy).

The application of cryonics to patients who are clinically dead is perhaps the single most misunderstood aspect of cryonics. How can cryonics help someone who is clinically dead? The answer is that life and death are not binary "on-off" states. For cells, organs, and people, death is a process, not an event.

For example, the brain is commonly believed to "die" after 5 minutes without oxygen at normal body temperature. This is a myth. Brains have been revived after one hour of warm cardiac arrest, and living human brain cells have been recovered after 4 hours and even 8 hours of clinical death at normal temperature. What really happens is that after 5 minutes without oxygen, chemical changes occur in the brain that cause blood vessels to swell when circulation is restored. Without special interventions, this swelling eventually stops the restored blood flow, resulting in the death of all brain cells hours later. The practical result is that a brain that is deprived of oxygen for more than 5 minutes is usually doomed to die within hours. But doomed is not the same as dead.

The biological changes known to occur in the first hours following cardiac arrest are fundamentally minor and reversible in principle. Technology already exists that could recover people after more than 5 minutes of cardiac arrest, although it is seldom used. The conventional medical research value of donated brain tissue and living brain cells recovered from post-mortem donors further highlights the minor nature of brain changes in the early hours of clinical death.

Ultimately the difference between life and death for a cell, an organ, or an organism reduces to a difference in how atoms are arranged inside it. It therefore seems certain that future medicine capable of diagnosis and repair at a molecular level will be able to resuscitate people after longer periods of clinical death than medicine can today. How much memory and personality would survive repair and healing after hours of cardiac arrest is not currently known.

Cryopreservation of clinically dead patients is double speculation. First, as with all cryonics cases, it is assumed that the cryopreservation process will someday be reversible. Second, it is assumed that future medicine will be able to successfully recover people after long periods of cardiac arrest. Alcor therefore encourages members to reduce their risk profile for heart attack and stroke, and relocate close to Alcor during serious illness if possible. If despite these precautions a member experiences unattended cardiac arrest, Alcor will still proceed with cryopreservation unless a member indicates otherwise in their paperwork.

Cryonics should never be confused with funeral arrangements. Alcor rarely accepts cases involving legal death of a non-member. The combination of strong emotion, false hope, unfamiliarity with cryonics, low probability of success, and high cost of cryonics without life insurance make accepting such cases ethically difficult. People who think they may someday be interested in cryonics should therefore investigate cryonics now. Waiting until cryonics is needed almost always means it won't be available.

For Alcor members who have chosen to be cryopreserved under poor conditions if necessary, there is a final ethical point. As long as resuscitation medicine remains an unfinished science, it is unethical to use the label "dead" as a basis to dismiss cryonics. Calling someone "dead" is merely medicine's way of excusing itself from resuscitation problems it cannot fix today. This makes people feel better about abandoning the patient and making the unwarranted assumption that nobody could ever fix the problem. Cryonics, in contrast, is conservative care that acknowledges that the real line between life and death is unclear and not currently known. It is humility in the face of the unknown. It is the right thing to do.

Further information on Alcor procedures can be found in the Alcor Library section on Alcor Procedure and Training Manuals. See also the Alcor at Work Photo Gallery.

More here:
Alcor Procedures - Alcor Life Extension Foundation

Recommendation and review posted by simmons

Most Popular – Life Extension Vitamins

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Most Popular - Life Extension Vitamins

Recommendation and review posted by Bethany Smith

Stem Cells News — ScienceDaily

Jan. 29, 2016 The mechanism used by specialized enzymes to remodel the extremely condensed genetic material in the nucleus of cells in order to control which genes can be used has been discovered. The research ... read more Ultrasound-Based Therapy for Cardiac Stem Cells Recovery Jan. 29, 2016 When cardiac stem cells undergo low-intensity pulsed ultrasound treatment, these cells can perform continuing modifications, tissue remodeling and regeneration of damaged cardiac tissue after a heart ... read more Assessing Stem Cells: New Biomarker Developed Jan. 29, 2016 A research team has found a way to assess the viability of 'manufactured' stem cells known as induced pluripotent stem cells (iPSCs). The team's discovery offers a new way to ... read more Jan. 29, 2016 Industry 4.0 requires comprehensive data collection in order to control highly automated process sequences in complex production environments. One example is the cultivation of living cells. But ... read more Protein Combination Improves Bone Regeneration, Study Shows Jan. 29, 2016 A combination of proteins that could improve clinical bone restoration, and could lead towards the development of therapeutic treatments for skeletal defects, bone loss and osteoporosis, report ... read more Cancer's Surprise Origins, Caught in Action Jan. 28, 2016 For the first time, researchers have visualized the origins of cancer from the first affected cell and watched its spread in a live animal. This work could change the way scientists understand ... read more Research Hints at a Nutritional Strategy for Reducing Autism Risk Jan. 28, 2016 Folic acid has long been touted as an important supplement for women of childbearing age for its ability to prevent defects in the baby's developing brain and spinal cord. In fact, folic acid is ... read more CRISPR Used to Repair Blindness-Causing Genetic Defect in Patient-Derived Stem Cells Jan. 28, 2016 Scientists have used a new gene-editing technology called CRISPR, to repair a genetic mutation responsible for retinitis pigmentosa (RP), an inherited condition that causes the retina to degrade and ... read more Jan. 27, 2016 The Achilles heel of hepatocellular carcinoma, a leading cause of cancer deaths worldwide, has been discovered by researchers. The key to disrupting chemo-resistant stem cells that become liver ... read more Scientists Make an Important Contribution to Decoding the Language of Cells Jan. 27, 2016 There are astonishing similarities between molecular mechanisms in neural stem cells and pancreatic islet cells, new research shows. This may lead to new forms of therapy, particularly for ... read more Jan. 25, 2016 A molecule that interrupts biochemical signals essential for the survival of a certain type of cancer stem cell has been discovered by ... read more How to Detect and Preserve Human Stem Cells in the Lab Jan. 22, 2016 Human stem cells that are capable of becoming any other kind of cell in the body have previously only been acquired and cultivated with difficulty. Scientists have now presented details of a method ... read more Jan. 21, 2016 A research team has now discovered how human macrophages can divide and self-renew almost indefinitely. As the researchers show in their new report, the macrophages achieve this by activating a gene ... read more Jan. 20, 2016 In 1917, Florence Sabin, the first female member of the US National Academy of Sciences, discovered hemangioblasts, the common precursor cells for blood cells and blood vessel endothelia. Her ... read more Breakthrough in Human Cell Transformation Could Revolutionize Regenerative Medicine Jan. 19, 2016 A breakthrough in the transformation of human cells by an international team of researchers could open the door to a new range of treatments for a variety of medical ... read more Jan. 19, 2016 Electrical stimulation of human heart muscle cells engineered from human stem cells aids their development and function, researchers have demonstrated for the first time. They used electrical ... read more Broken UV Light Leads to Key Heart Muscle Cell Discovery Jan. 18, 2016 For a team of investigators trying to generate heart muscle cells from stem cells, a piece of broken equipment turned out to be a good thing. The faulty equipment pushed the researchers to try a ... read more Jan. 14, 2016 Where and when do stem cells first appear during development? Researchers investigated this question by examining how cells organize as the hair follicle first appears in mouse embryos. They ... read more Donor's Genotype Controls Differentiation of Induced Pluripotent Stem Cells Jan. 14, 2016 Pluripotent stem cells derived from different cell types are equally susceptible to reprogramming, indicates a recent study. However, the genotype of the donor strongly influences the differentiation ... read more Mechanism That Controls Neuron Production from Stem Cells Revealed Jan. 13, 2016 The discovery of a mechanism enabling the production of cellular diversity in the developing nervous system has been announced by scientists. This discovery could improve the protocols to ... read more

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Recommendation and review posted by Bethany Smith

citrus-derived stem cells – Annmarie Gianni Skin Care

Have you noticed signs of aging in your skin? Do you have more dullness, dryness, wrinkles, or sagging than you did five, ten, or fifteen years ago?

If so, youre not alone. All of us experience the aging process, which includes thinning, age spots, loss of strength and elasticity, and increased dryness because of reduced oil production. Most of us dont like the idea of showing our age soweseek solutions to help slow down and conceal the signs of aging on the skin. Though we already have some key tools to use in our fight against the aging process, including natural oils that deeply moisturize, essential fatty acids that plump and firm, and nutrients that help protect from outside elements, science has zoomed in on another powerful anti-aging ally: the stem cell.

At Annmarie Gianni Skin Care, were excited to talk about stem cells because weve found the perfect source to add to our Repair Serum. They come from a clean, natural, and environmentally friendly source and have been shown to help stimulate regeneration and repair on a cellular level for a smoother, tighter, more youthful complexion.

Plant stem cells can help stimulate skin to regenerate and repair itself.

Youve probably heard about stem cells in the news. Most of the media coverage has been about embryonic stem cells because of the controversial sources for these cells the truly amazing scientific discoveries using stem cells are totally overshadowed. Embryonic stem cells have the capacity to form any type of tissue in the body and because of that, they can regenerate failing organs and they are instrumental in working with degenerative diseases.

The adult body has stem cells too but they are a lot more limited than the embryonic stem cells. Adult stem cells are specific to the type of organ that theyre helping to repair and they are limited in what theyre able to restructure in the body. That means that if you have a deep scratch on your skin, the stem cells in your skin would work to repair it but the stem cells in your brain wouldnt be able to migrate to the skin. Adult stem cells are used to regenerate and repair the tissues in the body but they dont have the capacity to regenerate organs the way that embryonic stem cells do (if you lose an arm you cant grow it back, right?).

That being said, the skin is one of the primary locations where we see stem cells at work because the skin is constantly regenerating itself to protect the body from foreign substances. There are a few different types of stems cells that are specific to the integumentary system but the primary stem cell is the epidermal stem cells that are found in the deepest part of the epidermis layer of the skin.

Skin cells have a huge job to do. According to a study published in 2003, the outer layer of skin is always renewing and repairing itself by constant proliferation of a single inner layer of rapidly dividing progeny of stem cells. A more recent study published in 2012 found the existence of a new population of stem cells that give rise to progenitor cells that ensure the daily maintenance of the epidermis [outer layer] and demonstrate the major contribution of epidermal stem cells during wound healing.

Have you noticed that a babys skin can heal really quickly from even the deepest gashes without scarring? Thats a sign of new stem cells that are capable of complete repair. Contrast that with the last time your furry friend loved you a little too much and scratched your leg, how long did that take you heal? Did you scar?

As we age, we encounter the elements and things like sun damage, environmental pollutants, physical damage, and just general decrease in regeneration can weaken and reduce the skins supply of key stem cells. That means skin renewal slows down so if you have noticed that your skin doesnt appear as dewy or young-looking and youre not healing quite as quickly as you used to dont worry, its normal.

Finding help from the plant world is not new for us. All of our products already use the power of plants to help protect and restore the skin but were always looking for ways to make it more effective. We went looking for safe ways to encourage skin repair and regeneration and we werent surprised to find plant stem cells and learn about the amazing effects they can have on the skin.

A plants extra store of stem cells is why they are able to grow new leaves in the spring and how they continue to sprout new life and be a mature entity at the same time. Because plants cannot escape the danger around them, it has been argued that their stem cells may be even stronger than our own, capable of withstanding all types of environmental stress to continue to regenerate and restore the plants various systems throughout its lifetime.

But can plant stem cells really help our human stem cells? Research shows they can. It isnt that the stem cells from plants can regenerate our own stem cells, what the plant stem cells can do however, is protect our own skin cells so they live longer and they stimulate the renerative activity in our own stem cells.

What does that mean to you? Younger looking and acting skin!

In seeking out a source of stem cells for our Repair Serum, we wanted something that wouldnt be irritated for the skin. Thats why when we saw the tests behind citrus stem cells, we were convinced they were the right ones for our customers. Not only are they from a non-human and non-animal source, but they have solid studies behind them.

Here are some of the results that citrus-based stem cells were able to create on the skin:

Do you suffer from skin damage? Please share your story.

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citrus-derived stem cells - Annmarie Gianni Skin Care

Recommendation and review posted by simmons

Androgenetic alopecia – Genetics Home Reference

Androgenetic alopecia is a common form of hair loss in both men and women. In men, this condition is also known as male-pattern baldness. Hair is lost in a well-defined pattern, beginning above both temples. Over time, the hairline recedes to form a characteristic "M" shape. Hair also thins at the crown (near the top of the head), often progressing to partial or complete baldness.

The pattern of hair loss in women differs from male-pattern baldness. In women, the hair becomes thinner all over the head, and the hairline does not recede. Androgenetic alopecia in women rarely leads to total baldness.

Androgenetic alopecia in men has been associated with several other medical conditions including coronary heart disease and enlargement of the prostate. Additionally, prostate cancer, disorders of insulin resistance (such as diabetes and obesity), and high blood pressure (hypertension) have been related to androgenetic alopecia. In women, this form of hair loss is associated with an increased risk of polycystic ovary syndrome (PCOS). PCOS is characterized by a hormonal imbalance that can lead to irregular menstruation, acne, excess hair elsewhere on the body (hirsutism), and weight gain.

Androgenetic alopecia is a frequent cause of hair loss in both men and women. This form of hair loss affects an estimated 50 million men and 30 million women in the United States. Androgenetic alopecia can start as early as a person's teens and risk increases with age; more than 50 percent of men over age 50 have some degree of hair loss. In women, hair loss is most likely after menopause.

A variety of genetic and environmental factors likely play a role in causing androgenetic alopecia. Although researchers are studying risk factors that may contribute to this condition, most of these factors remain unknown. Researchers have determined that this form of hair loss is related to hormones called androgens, particularly an androgen called dihydrotestosterone. Androgens are important for normal male sexual development before birth and during puberty. Androgens also have other important functions in both males and females, such as regulating hair growth and sex drive.

Hair growth begins under the skin in structures called follicles. Each strand of hair normally grows for 2 to 6 years, goes into a resting phase for several months, and then falls out. The cycle starts over when the follicle begins growing a new hair. Increased levels of androgens in hair follicles can lead to a shorter cycle of hair growth and the growth of shorter and thinner strands of hair. Additionally, there is a delay in the growth of new hair to replace strands that are shed.

Although researchers suspect that several genes play a role in androgenetic alopecia, variations in only one gene, AR, have been confirmed in scientific studies. The AR gene provides instructions for making a protein called an androgen receptor. Androgen receptors allow the body to respond appropriately to dihydrotestosterone and other androgens. Studies suggest that variations in the AR gene lead to increased activity of androgen receptors in hair follicles. It remains unclear, however, how these genetic changes increase the risk of hair loss in men and women with androgenetic alopecia.

Researchers continue to investigate the connection between androgenetic alopecia and other medical conditions, such as coronary heart disease and prostate cancer in men and polycystic ovary syndrome in women. They believe that some of these disorders may be associated with elevated androgen levels, which may help explain why they tend to occur with androgen-related hair loss. Other hormonal, environmental, and genetic factors that have not been identified also may be involved.

Read more about the AR gene.

The inheritance pattern of androgenetic alopecia is unclear because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having a close relative with patterned hair loss appears to be a risk factor for developing the condition.

You may find the following resources about androgenetic alopecia helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

See the article here:
Androgenetic alopecia - Genetics Home Reference

Recommendation and review posted by Bethany Smith

Human Genetics – Mendelian Inheritance 5

for 1st YEAR STUDENTS X-LINKED INHERITANCE

hen the locus for a gene for a particular trait or disease lies on the X chromosome, the disease is said to be X-linked. The inheritance pattern for X-linked inheritance differs from autosomal inheritance only because the X chromosome has no homologous chromosome in the male, the male has an X and a Y chromosome. Very few genes have been discovered on the Y chromosome.

The inheritance pattern follows the pattern of segregation of the X and Y chromosomes in meiosis and fertilization. A male child always gets his X from one of his mother's two X's and his Y chromosome from his father. X-linked genes are never passed from father to son. A female child always gets the father's X chromosome and one of the two X's of the mother. An affected female must have an affected father. Males are always hemizygous for X linked traits, that is, they can never be heterozygoses or homozygotes. They are never carriers. A single dose of a mutant allele will produce a mutant phenotype in the male, whether the mutation is dominant or recessive. On the other hand, females must be either homozygous for the normal allele, heterozygous, or homozygous for the mutant allele, just as they are for autosomal loci.

When an X-linked gene is said to express dominant inheritance, it means that a single dose of the mutant allele will affect the phenotype of the female. A recessive X-linked gene requires two doses of the mutant allele to affect the female phenotype. The following are the hallmarks of X-linked dominant inheritance:

The following Punnett Squares explain the first three hallmarks of X-linked dominant inheritance. X represents the X chromosome with the normal allele, XA represents the X chromosome with the mutant dominant allele, and Y represents the Y chromosome. Note that the affected father never passes the trait to his sons but passes it to all of his daughters, since the heterozygote is affected for dominant traits. On the other hand, an affected female passes the disease to half of her daughters and half of her sons.

Males are usually more severely affected than females because in each affected female there is one normal allele producing a normal gene product and one mutant allele producing the non-functioning product, while in each affected male there is only the mutant allele with its non-functioning product and the Y chromosome, no normal gene product at all. Affected females are more prevalent in the general population because the female has two X chromosomes, either of which could carry the mutant allele, while the male only has one X chromosome as a target for the mutant allele. When the disease is no more deleterious in males than it is in females, females are about twice as likely to be affected as males. As shown in Pedigree 5 below, X-linked dominant inheritance has a unique heritability pattern.

The key for determining if a dominant trait is X-linked or autosomal is to look at the offspring of the mating of an affected male and a normal female. If the affected male has an affected son, then the disease is not X-linked. All of his daughters must also be affected if the disease is X-linked. In Pedigree 5, both of these conditions are met.

What happens when males are so severely affected that they can't reproduce? Suppose they are so severely affected they never survive to term, then what happens? This is not uncommon in X-linked dominant diseases. There are no affected males to test for X-linked dominant inheritance to see if the produce all affected daughters and no affected sons. Pedigree 6 shows the effects of such a disease in a family. There are no affected males, only affected females, in the population. Living females outnumber living males two to one when the mother is affected. The ratio in the offspring of affected females is: 1 affected female: 1 normal female: 1 normal male.

You will note that in Pedigree 6 there have also been several spontaneous abortions in the offspring of affected females. Normally, in the general population of us normal couples, one in six recognized pregnancies results in a spontaneous abortion. Here the ratio is much higher. Presumably many of the spontaneous abortions shown in Pedigree 6 are males that would have been affected had they survived to term.

[Go on to next lesson] or [Return to top of this page] or [Return to the Course Outline]

Once the Mallard page loads you can access the quizzes by clicking on the Lessons Page link (also the third icon from the top of the navigation bar) or the Current Lesson link (also the fourth icon from the top of the navigation bar).

Contact Dr. Robert Tissot with questions about the content of these pages.

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Human Genetics - Mendelian Inheritance 5

Recommendation and review posted by simmons

Hypothyroidism Diagnosis, Symptoms, and Treatment

A recent study showed that nearly 13 million Americans may be unaware of and undiagnosed for their thyroid conditions. Are you one of them? Another study showed that if you are a pregnant woman and you have a low thyroid your child's IQ will be affected. Yet another recent study showed that if you an elderly woman with thyroid problems you will have an increased risk of heart disease

The big myth that persists regarding thyroid diagnosis is that an elevated TSH (thyroid stimulating hormone) level is always required before a diagnosis of hypothyroidism can be made. Normally, the pituitary gland will secrete TSH in response to a low thyroid hormone level. Thus an elevated TSH level would typically suggest an underactive thyroid.

If you find this information helpful click here to subscribe to the FREE weekly newsletter so you will get all the updates.

Click here to read my interview with Mary Shomon, the Thyroid guide from About.com.

Your Doctor Does Not Likely Understand How To Interpret Your Tests Properly

Thyroid function tests have always presented doctors with difficulties in their interpretation. Laboratory testing is often misleading due to the complexity and inherent shortcomings of the tests themselves. Many doctors not having an adequate understanding of what the test results mean, will often make incorrect assumptions based on them or interpret them too strictly. A narrow interpretation of thyroid function testing leads to many people not being treated for subclinical hypothyroidism.

Old Laboratory Tests Unreliable

Most all older thyroid function panels include the following:

These tests should be abandoned because they are unreliable as gauges of thyroid function. The most common traditional way to diagnose hypothyroidism is with a TSH that is elevated beyond the normal reference range. For most labs, this is about 4.0 to 4.5. This is thought to reflect the pituitary's sensing of inadequate thyroid hormone levels in the blood which would be consistent with hypothyroidism. There is no question that this will diagnose hypothyroidism, but it is far too insensitive a measure, and the vast majority of patients who have hypothyroidism will be missed.

Basal Body Temperature

Basal body temperature popularized by the late Broda Barnes, M.D. He found the clinical symptoms and the body temperature to be more reliable than the standard laboratory tests was provided. This is clearly better than using the standard tests. However there are problems with using body temperature.

New and More Accurate Way To Check for Hypothyroidism

This revised method of diagnosing and treating hypothyroidism seems superior to the temperature regulation method promoted by Broda Barnes and many natural medicine physicians. Most patients continue to have classic hypothyroid symptoms because excessive reliance is placed on the TSH. This test is a highly-accurate measure of TSH but not of the height of thyroid hormone levels.

New Range for TSH to Diagnose Hypothyroidism

The basic problem that traditional medicine has with diagnosing hypothyroidism is the so-called "normal range" of TSH is far too high: Many patients with TSH's of greater than 2.0 (not 4.5) have classic symptoms and signs of hypothyroidism (see below).

Free Thyroid Hormone Levels

One can also use the Free T3 and Free T4 and TSH levels to help one identify how well the thyroid gland is working. Free T3 and Free T4 levels are the only accurate measure of the actual active thyroid hormone levels in the blood.

When one uses free hormone levels one will find that it is relatively common to find the Free T4 and Free T3 hormone levels below normal when TSH is in its normal range, even in the low end of its normal range. When patients with these lab values are treated, one typically finds tremendous improvement in the patient, and a reduction of the classic hypothyroid symptoms.

Secondary or Tertiary Hypothyroidism

There are a significant number of individuals who have a TSH even below the new 1.5 reference range mentioned above, but their Free T3 (and possibly the Free T4 as well) will be below normal. These are cases of secondary or tertiary hypothyroidism, so, TSH alone is not an accurate test of all forms of hypothyroidism, only primary hypothyroidism.

Symptoms of Low Thyroid

Treatment of Hypothyroidism

You can click here for an article on how you can treat your thyroid problem with natural hormone therapy.

If you find this information helpful click here to subscribe to the FREE weekly newsletter so you will get all the updates.

If you are interested in a more comprehensive articles directed towards health care professionals click here. Also available is an excellent text book article on thyroid testing for those with more technical interests.

Mary Shomon is the http://www.about.com thyroid expert. Her $11 352 page book published in March of 2000 is one of the most cost effective and valuable resources that you could own on this subject. If you have thyroid disease this book should be in your library.

Click here to Purchase: Living Well With Hypothyroidism

The Los Angeles Times wrote: March 27, 2000 "Hypothyroidism is a common, very treatable disorder that is also poorly managed by doctors. In this first-rate book by Mary Shomon...the disorder, its myths, and medicine's successes and failures at dealing with it are thoroughly examined. This is not a book that rehashes old facts on thyroid disease. Shomon instead challenges patients and their doctors to look deeper and try harder to resolve the complicated symptoms of hypothyroidism...In a fascinating chapter, Shomon, who also has a Web site and an online newsletter about the disease, explores recent evidence that the addition of the thyroid hormone T3 to the standard T4 (levothyroxine) may help some people feel better. In addition, the section on babies born with hypothyroidism, although brief, has the best advice on how to give medication to an infant that I've seen. As Shomon writes: 'or years, thyroid problems have been downplayed, misunderstood and portrayed as unimportant.' With her advocacy, perhaps no more." -- Shari Roan

Dr. John Lowe, author of "Speeding Up to Normal" wrote:

Mary Shomon is the harbinger of the latest scientifically-sound information on hypothyroidism. With keen intellect, loyalty to truth, and plain language, she sweeps away the medical dogma that bars millions of patients from rational thyroid hormone therapies. In this book, she describes practical thyroid therapies that can improve patients' health and extend their lives. The book is vital for hypothyroid patients who want to get well, and for physicians who want to help them do so.

Originally posted here:
Hypothyroidism Diagnosis, Symptoms, and Treatment

Recommendation and review posted by Bethany Smith

Clinically Non-Functioning Pituitary Adenomas | UCLA …

Pituitary tumors (adenomas) that do not secrete active hormones are called clinically nonfunctioning pituitary adenomas. Most are large (macroadenomas), measuring more than one centimeter in size at the time of diagnosis. Patients start experiencing symptoms when the large tumor compresses the optic nerves, leading to vision loss, or the loss of normal pituitary function.

The UCLA Pituitary Tumor Program offers comprehensive management of clinically nonfunctioning pituitary adenomas. Our physicians have years of experience in diagnosing, treating and managing pituitary conditions.

Use these links to explore more about clinically nonfunctioning pituitary adenomas:

Clinically nonfunctioning pituitary adenomas make up about half of pituitary adenomas. The vast majority of them are benign.

There are several possible reasons why nonfunctioning pituitary adenomas could occur:

The most common symptoms are due to the large tumor compressing nearby structures, leading to:

Increased compression of the normal gland can cause hormone insufficiency, called hypopituitarism. The symptoms depend upon which hormone is involved.

More severe hypopituitarism can lead to hypothyroidism or abnormally low cortisol levels, which may be life threatening. Symptoms of severe hypopituitarism include:

Changes in hormonal function can cause electrolyte imbalance in the blood, typically low sodium levels (hyponatremia). Symptoms could include:

Imaging scans are one method doctors use to diagnose clinically nonfunctioning pituitary adenomas. We will also order hormone tests to evaluate the levels of pituitary hormone, confirming that there is no evidence of hormone production by the tumor.

Your doctor will conduct a thorough physical examination and ask you about your symptoms and medical history. He or she will then order tests as necessary, including:

MRI imaging allows us to detect whether there are tumors present. Your doctor will use a special MRI pituitary protocol to best visualize the tumor.

There are other tumors that produce symptoms similar to that of a pituitary adenoma. Your doctor will want to rule out these other tumors before confirming a diagnosis. Tumors that mimic the symptoms of a pituitary adenoma include:

If your symptoms suggest pituitary failure (hypopituitarism), your doctor may order a complete evaluation of the endocrine system. Based on results of these blood tests, you may undergo additional hormonal studies.

Learn more about hormone testing at the UCLA Pituitary Tumor Program.

If you are experiencing vision problems, your doctor will recommend that an experienced ophthalmologist evaluate you. The evaluation should include:

This will determine if you have a loss of peripheral vision.

The UCLA Pituitary Tumor Program offers comprehensive management of all types of pituitary tumors. Treatment options for pituitary adenomas include:

For most patients with nonfunctional adenomas, surgically removing the adenoma is the most effective treatment.

Whether this will lead to a long-term cure depends on the extent of surgical removal, which is related to:

If the surgeon was able to remove the entire tumor, the cure rate is 70 percent to 80 percent. Overall, surgery improves:

If the pituitary adenomas require surgery,typicallythe bestprocedureis througha nasal approach. Our neurosurgeons who specialize in pituitary tumor surgery are experts in the minimally invasive endoscopic endonasaltechnique. This procedure removes the tumor while minimizing complications, hospital time and discomfort. This advanced technique requires specialized training and equipment.

Very large tumors that extend into the brain cavity may require opening the skull (craniotomy) to access the tumor. Our surgeons are also experts in the minimally invasive "key-hole" craniotomy, utilizing a small incision hidden in the eyebrow.

If, after your surgery, some tumor cells remained or regrew, you may be a candidate for radiation therapy or a repeat surgery.

Hormone replacement may be necessary if you have pituitary insufficiency.

Doctors may recommend radiation therapy as a second-line therapy for endocrine-inactive tumors. Focused-beam radiation, named stereotactic radiosurgery, can be effective in controlling tumor growth. In some cases, radiation therapy may cause a loss of pituitary function.

To schedule an appointment with one of our physicians at the Pituitary Tumor Program, please call (310) 825 5111.

You can also email us at pituitary@mednet.ucla.edu

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Clinically Non-Functioning Pituitary Adenomas | UCLA ...

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Cardiac muscle cell – Wikipedia, the free encyclopedia

Cardiac muscle cells or cardiomyocytes (also known as myocardiocytes[1] or cardiac myocytes[2]) are the muscle cells (myocytes) that make up the cardiac muscle. Each myocardial cell contains myofibrils, which are specialized organelles consisting of long chains of sarcomeres, the fundamental contractile units of muscle cells. Cardiomyocytes show striations similar to those on skeletal muscle cells. Unlike multinucleated skeletal cells, the majority of cardiomyocytes contain only one nucleus, although they may have as many as four.[3] Cardiomyocytes have a high mitochondrial density, which allows them to produce adenosine triphosphate (ATP) quickly, making them highly resistant to fatigue.

There are two types of cells within the heart: the cardiomyocytes and the cardiac pacemaker cells. Cardiomyocytes make up the atria (the chambers in which blood enters the heart) and the ventricles (the chambers where blood is collected and pumped out of the heart). These cells must be able to shorten and lengthen their fibers and the fibers must be flexible enough to stretch. These functions are critical to the proper form during the beating of the heart.[4]

Cardiac pacemaker cells carry the impulses that are responsible for the beating of the heart. They are distributed throughout the heart and are responsible for several functions. First, they are responsible for being able to spontaneously generate and send out electrical impulses. They also must be able to receive and respond to electrical impulses from the brain. Lastly, they must be able to transfer electrical impulses from cell to cell.[5]

All of these cells are connected by cellular bridges. Porous junctions called intercalated discs form junctions between the cells. They permit sodium, potassium and calcium to easily diffuse from cell to cell. This makes it easier for depolarization and repolarization in the myocardium. Because of these junctions and bridges the heart muscle is able to act as a single coordinated unit.[6][7]

Cardiac action potential consists of two cycles, a rest phase and an active phase. These two phases are commonly understood as systole and diastole. The rest phase is considered polarized. The resting potential during this phase of the beat separates the ions such as sodium, potassium and calcium. Myocardial cells possess the property of automaticity or spontaneous depolarization. This is the direct result of a membrane which allows sodium ions to slowly enter the cell until the threshold is reached for depolarization. Calcium ions follow and extend the depolarization even further. Once calcium stops moving inward, potassium ions move out slowly to produce repolarization. The very slow repolarization of the CMC membrane is responsible for the long refractory period.[8][9]

Myocardial infarction, commonly known as a heart attack, occurs when the heart's supplementary blood vessels are obstructed by an unstable build-up of white blood cells, cholesterol, and fat. With no blood flow, the cells die, causing whole portions of cardiac tissue to die. Once these tissues are lost, they cannot be replaced, thus causing permanent damage. Current research indicates, however, that it may be possible to repair damaged cardiac tissue with stem cells,[10] as human embryonic stem cells can differentiate into cardiomyocytes under appropriate conditions.[11]

Humans are born with a set number of heart muscle cells, or cardiomyocytes, which increase in size as our heart grows larger during childhood development. Recent evidence suggests that cardiomyocytes are actually slowly turned over as we age, but that less than 50% of the cardiomyocytes we are born with are replaced during a normal life span.[12] The growth of individual cardiomyocytes not only occurs during normal heart development, it also occurs in response to extensive exercise (athletic heart syndrome), heart disease, or heart muscle injury such as after a myocardial infarction. A healthy adult cardiomyocyte has a cylindrical shape that is approximately 100m long and 10-25m in diameter. Cardiomyocyte hypertrophy occurs through sarcomerogenesis, the creation of new sarcomere units in the cell. During heart volume overload, cardiomyocytes grow through eccentric hypertrophy.[13] The cardiomyocytes extend lengthwise but have the same diameter, resulting in ventricular dilation. During heart pressure overload, cardiomyocytes grow through concentric hypertrophy.[13] The cardiomyocytes grow larger in diameter but have the same length, resulting in heart wall thickening.

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Cardiac muscle cell - Wikipedia, the free encyclopedia

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Skin cell gun – Wikipedia, the free encyclopedia

The skin cell gun, also known as the skin gun or SkinGun, is a medical device that sprays a patient's own self-donated (autologous) stem cells to treat burns and other wounds. The skin gun is used in conjunction with a technique that isolates adult stem cells from a postage stamp-sized sample of the patient's own skin for application to the wound site, where they differentiate into normal skin. This treatment can replace conventional methods of treating severe wounds, such as skin grafting. Studies demonstrate that damaged skin tissue regenerates after skin gun treatment significantly more quickly than after traditional treatment methods. [1][2][3]

The skin gun, along with related cell isolation methodologies, were acquired by RenovaCare, Inc. in 2013.[4] The company continues to develop the technology and treatment protocol for commercial distribution, under the brand names SkinGun and CellMist System respectively. RenovaCare is also exploring opportunities to apply its SkinGun treatments to additional indications, including chronic wounds, pigmentation disorders, and cosmetic applications. [5]

Stem cells from a postage stamp-sized sample of the patient's healthy skin are isolated using a enzymatic tissue processing protocol. The resulting cell suspension is then transferred to a sterile syringe, which is then inserted into the skin gun. Using its unique spray mechanism, the gun uniformly distributes cells directly into the wound. The newly introduced stem cells begin to migrate, multiply, and differentiate, creating new skin tissue in a matter of days.

The entire process from collecting the skin sample, processing it into a cell suspension, and using the skin gun to spray the stem cells takes approximately 1.52 hours from start to finish. Full re-epithelialization can occur in as little as four days, and after a few months the skin will regain its color and texture.[6][7]

Early experimental versions of the device were developed by Dr. Jrg Gerlach and StemCell Systems GmbH in Berlin, Germany. Dr. Gerlach and SCS had already developed cell culture bioreactors for culturing usable liver and other solid organ tissues from stem cells, and were seeking a similar platform to culture living skin. They soon discovered that, compared to other organs, the skin is a special case. A skin wound is itself an accessible environment that provides excellent conditions to culture new skin tissue in vivo. This solves the problems of wait times and special challenges in transplanting delicate, cultured tissue inherent to in vitro skin culture technologies.[8]

Researchers developed novel stem cell isolation techniques that maximize stem cell availability for transplantation.[9] To ensure minimal loss in transplanting the isolated cells, engineers at StemCell Systems designed a deposition device, the skin gun, to gently deliver the cell suspension without exposing cells to harsh forces in conventional spray devices.[9]

The skin gun method was first used experimentally at Charit Universittsmedizin Berlin on a group of nineteen patients. The clinician in that study determined that the results from the skin gun treatment was so significantly better than traditional grafting that he discontinued performing skin grafts on a control group on the basis of medical ethics.[1]

Subsequently several skin gun procedures have been performed at UPMC Mercy Hospital in Pittsburgh, including patients who have been able to leave hospital within four days of treatment.[3]

After an abrasion, cut, burn, or other injury, the body uses several different of biological processes to repair the skin.[10] Wound healing generally has three different stages: the inflammatory stage, the proliferative stage and the remodeling stage.[11]

Once the skin is damaged, a series of interrelated events take place in close succession in order to repair the skin.[12] Within minutes after an injury occurs, blood platelets collect at the site of injury to form a clot. This clot limits bleeding at the injury site.

The inflammatory phase involves increased white blood cell activity, removing bacteria and debris from the wound. Biochemical signals instruct regenerative cells to begin dividing, to create new skin tissues much more rapidly than normal.

The proliferative phase is marked by the formation of new skin tissue at the injury site and the general shrinking and eventual disappearance of the wound.[13] New blood vessels are also established during the healing process. The wound is made smaller by myofibroblasts, which hold on to the edges of the wound and slowly get smaller by a system similar to the contraction of muscle cells.

During the remodeling phase, the skin acquires its permanent texture and unneeded cells are disposed of through apoptosis.

To date skin gun treatment has been used exclusively with second degree burns, though there is strong evidence that the treatment will be successful in treating a variety of skin wounds and skin disorders. Patients with infected wounds or with delay in wound healing are suitable for cell grafting treatment.[3] Third-degree burns, however, completely deprive victims of both their epidermis and dermis skin levels, which exposes the tissue surrounding the muscles. The skin gun has not progressed to the point where it can be used for such advanced wounds, and these patients must seek more traditional treatment methods. The skin gun is generally not used for burn victims with anything less than a second-degree burn either. First degree-burns still maintain portions of the epidermis and can readily heal on their own, thus they do not need this expensive technology.

Currently, the skin gun's applications have not been extended to include the regeneration of skin lost due to other injuries or skin diseases. It is also limited in that it is only effective immediately following the burn incident.[14]

The average healing time for patients with second degree burns is three to four weeks.[15] This is reduced to a matter of days with skin gun treatment.[1][2][3]

Traditional skin grafting can be risky, in that chances for infection are relatively high. The skin gun alleviates this concern because the increased speed in which the wound heals directly correlates to the decreased time the wound can be vulnerable to infection. Because of the rapid re-epithelialization associated with skin gun treatment, harmful side effects that can result from an open wound are significantly reduced.[16] Applying the skin cells is quick and doesn't harm the patient because only a thin layer of the patients healthy skin is extracted from the body into the aqueous spray. The electronic spray distributes the skin cells uniformly without damaging the skin cells, and patients feel as if they are sprayed with salt water.[16]

Because the skin cells are actually the patients own cells, the skin that is regenerated looks more natural than skin grown from traditional methods. During recovery, the skin cells grow into fully functional layers of the skin, including the dermis, epidermis, and blood vessels.[17] The regenerated skin leaves little scarring. The basic idea of optimizing regenerative healing techniques to damaged biological structures demonstrated by the skin gun in the future may also be applied to engineering reconstruction of vital organs, such as the heart and kidneys.[17]

There are major limitations: the method will not work on deep burns that go through bone and muscle, specifically below the dermis. As of 2011, only several dozen patients have been treated; it remains an experimental, not a proven, method. As of 2011, the skin gun was still in its prototyping stage, since it has only treated a dozen patients in Germany and the US, compared to over 50,000 treated with Dermagraft bioengineered skin substitute. There is thus a lack of published peer reviewed clinical evidence, and no knowledge of long-term stability of the newly generated skin.

The skin gun has been featured in numerous books and television shows, including the following examples.

Continue reading here:
Skin cell gun - Wikipedia, the free encyclopedia

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Regenocyte, Stem Cells Used To Treat Cardiovascular Disease

About 128 million people suffer from diseases that might be cured or treated through stem cell therapy. About 58 million of these people suffer from cardiovascular disease.

Cardiovascular disease can manifest itself in many different ways because the blood vessels transport blood to every single part of the body. The heart is the organ that pumps the blood around the body, and it also receives nutrients from the blood vessels (via the coronary vessels). Any interruption of the supply of blood containing nutrients and oxygen to one of the bodys organs leads to functional impairment and, in the worst case scenario, the death of the tissue. One typical example is cardiac arrest, which occurs when the blood supply to the heart muscle is restricted.

Cardiovascular disease can have any number of causes. Some people are born with a susceptibility to vascular disease (e.g. varicose veins), which can be alleviated by taking medication. Other peoples heart and blood vessels can be damaged by external factors. The majority of vascular diseases these days, however, are caused by our modern-day lifestyles. The walls of the blood vessel are always in contact with the blood which flows through them, so they are most commonly affected by unhealthy lifestyles. If someone has an unfavorable haemogram, i.e. if their blood contains too much glucose, cholesterol, triglycerides (fats) or nicotine, this can put the blood vessels under an enormous amount of stress. Glucose adheres to the walls of the blood vessels and the blood constituents, and cholesterol and triglycerides also accumulate on the blood vessel walls. As a result, the blood clumps, the blood vessel walls calcify, turning porous and can no longer perform their biological function properly. Nicotine also constricts the blood vessels, so they narrow and the amount of blood circulating the body is reduced.

If the condition is aggravated by a lack of vessel-protecting substances, the damaged vessels lose their ability to regenerate. The consequences include arteriosclerosis, leg ulceration, dilation of the abdominal artery (aneurysm), cardiac insufficiency, cardiac arrest and stroke. Cardiovascular disease is still the number one cause of death in many other western industrial nations.

Adult Stem Cells derived from the patients own blood are potent and effective to treat heart disease.Patients who have severe cardiac disease with a history of coronary infarction, congestive heart failure, those with previous bypass surgery and stents, cardiomyopathy, and individuals with low ejection fraction (the rate at which the heart pumps) are candidates for this procedure. Patients that survive myocardial infarction have diminished cardiac reserve putting them at risk for subsequent heart failure. Doctors and scientists throughout the world now understand that myocardial repair and regeneration are possible and attainable.

Watch this informative video that highlights one of our patients and how their heart was treated with Stem Cell Therapy. Stem Cell Treatment for the heart saved this patients life.

Regenocyte generates healthy heart muscle cells in the laboratory and then transplants those cells into patients with chronic heart disease. Stem cells cultivated from the patients own blood and transplanted into a damaged heart, can generate new collateral vessels.

Treatment is non-invasive consisting of an intravenous infusion of precursor cardiomyocyte stem cells derived from a patients own blood through a specially designed catheter. This approach increases the engraftment, survival and proliferation of the stem cells to the heart muscle.

To find out more about how stem cells can treat the heart,click hereor call us at (866) 216-5710

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Regenocyte, Stem Cells Used To Treat Cardiovascular Disease

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About Us – Life Extension

Supplement your knowledge on anti-aging and optimal health

The Life Extension Foundation Buyers Club is an organization whose long-range goal is the extension of the healthy human life span. In seeking to control aging, our objective is to develop methods to enable us to live in vigor, health and wellness for an unlimited period of time. Life Extension was established in the early 1980s, but its founders have been involved in the anti-aging field since the 1960s. Life Extension publishes the very latest information on anti-aging and wellness in its monthly publication, Life Extension Magazine, the Disease Prevention and Treatment book of integrative health protocols, the Life Extension Update e-mail newsletter and the Daily Health Bulletin, and at this website. All to support more informed health choices.

With more potent, more complete vitamin and supplement formations

In addition to a wealth of information, Life Extension offers 300+ premium-quality vitamins, minerals, hormones, diet and nutritional supplements, and even skin care products, which are often the fruits of research reported on or funded by the Life Extension.

The Life Extension Foundation is one of the worlds largest membership organizations dedicated to investigating every method of extending the healthy human life span and funding anti-aging research. When seeking methods to slow aging, the non-profit Life Extension Foundation often uncovers potential therapies to fight the conditions associated with aging.

Based on current scientific research, Life Extension is continually formulating and upgrading its science-based multivitamin, vitamin, and nutritional supplement formulas to include the latest novel ingredients that are years ahead of mainstream offerings. As such, Life Extension has originated such innovative supplements as Life Extension Mix, a multivitamin that incorporates many recent research findings in health and nutrition.

Life Extensions stringent approach to quality assurance and 100% Satisfaction Guarantee make its supplements the gold standard of the industry.

As part of a total health and nutrition program

What began as a newsletter over 30 years ago has evolved into a total health offering, including:

Learn how you can access all of the above services, as well as receive discounts on dietary supplements and blood testing, by joining the Life Extension Foundation.

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Neal Rouzier, MD The Hormone Doctor

Why accept aging and all its potential problems? You have an option to forestall physical and mental deterioration through Bioidentical Hormone Replacement! Natural Hormone Therapy is a safe, effective and reliable medical therapy that combats the biological effects of aging.

Neal Rouzier MD is Medical Director of The Preventive Medicine Clinics in Palm Springs, California. Rouzier has been specializing in in Bioidentical Hormone Replacement since 1997. He can prescribe a therapy that is tailored to your unique needs.

Our focus is on PREVENTION of the diseases associated with aging. Of course, a healthy lifestyle is important, including diet and exercise. Along with the appropriate vitamins and supplements, bio-identical hormones are a key ingredient in our recipe for healthy aging.

The Preventive Medicine Clinic is located in the resort area of Palm Springs in Southern California. Rouzier sees new patients in California and Utah. Only one visit is necessary to perform a comprehensive history, interview, and education. Follow up evaluations, adjustments and balancing are done by phone or written communications a return visit to Dr. Rouzier is not necessary. But ongoing testing and adjustment is mandatory and performed through a laboratory convenient to your home.

In addition to the Palm Springs office, Rouziersees new patients in Pasadena, California, and Salt Lake City, Utah. Pasadena appointments will be held in the offices of the New Body Cosmetic Surgery Center. Please call Carolyn Rouzier on 760 320 4292for information and appointments.

Preventive Medicine Clinic 3001 E. Tahquitz Canyon Way Suite 108 Palm Springs, CA 92262

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Neal Rouzier, MD The Hormone Doctor

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Life Extension Supplements/Products: Antioxidants, Anti …

Welcome to My Health Online!

We are dedicated to providing you with the best and most useful anti-aging products and information for helping you to live longer and improve your life.

We feature great products from the Life Extension Foundation but at great discounts. These products are designed to provide you with the best formulations. Many other products do not take into account such key factors as co-factors that are necessary for the body to really get the full effect of the nutrient. Each product, from anti-aging and antioxidant supplements to skin care and weight loss supplements is manufactured under the most rigorous conditions to ensure that you get the safest and most potent formulations around. You will find supplements and other items conveniently categorized for you.

Simple click here and put "green tea" in the subject or body. This fascinating report shows you how green tea can help with weight loss, cardiovascular health, cancer, and many other conditions. You can't afford to not read this report.

We want to help you live better and longer. We are fanatics for health. We don't want to read a bunch of blah blah. We know you want information that you can use. We write articles that are centered on being useful to YOU NOW.

Our articles section is growing all the time as we add new articles each week so be sure to check our life extension articles section regularly.

Click on the categories below to learn about different types of Life Extension products we supply:

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Genetic Counseling | Woman’s Hospital | Baton Rouge, LA

Woman's genetic counselors can help you understand your genetic risks for certain diseases, such as cancer, or for passing an existing disease on to a child. Genetic counseling can lead to the earliest detection of diseases you or your baby may be at-risk of developing.

If you are concerned about diseases that run in your family, talk to you doctor about genetic counseling.

Genetics is the study of heredity, the process in which parents pass certaingenesonto their children. A person's physical appearance height, hair color, skin color and eye color are determined by genes. Other characteristics affected by heredity include:

Humans have an estimated 100,000 different genes that contain specific genetic information, and these genes are located on stick-like structures in the nucleus of cells called chromosomes.

When a gene is abnormal, or when entire chromosomes are left off or duplicated, defects in the structure or function of the body's organs or systems can occur. These mutations or abnormalities can result in disorders such as cystic fibrosis, a recessive genetic disease, or Down syndrome, an abnormality that occurs when a baby receives three No. 21 chromosomes.

Each person has more than 100,000 genes that direct the growth and development of every part of the body. These genes carry instructions for dominant or recessive traits that can be passed on to a child.

People who might be especially interested in genetic counseling for pregnancy include:

Women who might be especially interested in genetic testing regarding disease specific genes include:

Should it be necessary, Woman's genetics team,which includes geneticist,Dr. Duane Superneau,can work with your oncologists and breast surgeons in determining a need forgenetic testing and your course of treatment.

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Genetic Counseling | Woman's Hospital | Baton Rouge, LA

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Back pain – Wikipedia, the free encyclopedia

Back pain is pain felt in the back. Episodes of back pain may be acute, sub-acute, or chronic depending on the duration. The pain may be characterized as a dull ache, shooting or piercing pain, or a burning sensation. The pain may radiate into the arms and hands as well as the legs or feet, and may include tingling, weakness or numbness in the legs and arms. The most common area of pain is the lower back, or lumbar area.

The pain may originate from the muscles, nerves, bones, joints or other structures in the spine. Internal structures such as the gallbladder and pancreas may also refer pain to the back.

Although back pain is common, it is rare for it to be permanently disabling. In most cases of disc herniations and stenosis, rest, injections or surgery have similar outcomes of general pain resolution after one year. In the United States, acute low back pain (also called lumbago) is the fifth most common reason for physician visits. About nine out of ten adults experience back pain at some point in their life, and five out of ten working adults have back pain every year.[1] Low back pain causes 40% of missed days of work in the United States.[2] Additionally, it is the single leading cause of disability worldwide.[3]

Back pain may be classified by various methods to aid its diagnosis and management. The anatomic classification of back pain follows the segments of the spine: cervical, thoracic, lumbar or sacral.

The duration of back pain is considered in three categories, following the expected pattern of healing of connective tissue. Acute pain lasts up to 12 weeks, subacute pain refers to the second half of the acute period (6 to 12 weeks), and chronic pain is pain which persists beyond 12 weeks.[4]

The character of back pain indicates its likely tissue of origin. Nonspecific back pain is believed to be due from the soft tissues such as muscles, fascia, and ligaments.[5]Radicular pain with or without spinal stenosis indicates involvement of nervous tissue. Secondary back pain results from a known medical diagnosis such as infection or cancer.[6] Non specific pain indicates that the cause is not known precisely but is believed to be due from the soft tissues such as muscles, fascia, and ligaments.[5]

Back pain has several causes. Approximately 98 percent of back pain patients are diagnosed with nonspecific acute back pain in which no serious underlying pathology is identified.[7] Nearly 2 percent are comprised by metastatic cancers, while serious infections such as spinal osteomyelitis and epidural abscesses account for fewer than 1 percent. The most common cause of neurologic impairment including weakness or numbness results from a herniated disc. Nearly 95 percent of disc herniations occur at the lowest two lumbar intervertebral levels.[8]

Back pain does not usually require immediate medical intervention. The vast majority of episodes of back pain are self-limiting and non-progressive. Most back pain syndromes are due to inflammation, especially in the acute phase, which typically lasts from two weeks to three months.

Back pain can be a sign of a serious medical problem, although this is not most frequently the underlying cause:

A few observational studies suggest that two conditions to which back pain is often attributed, lumbar disc herniation and degenerative disc disease, may not be more prevalent among those in pain than among the general population, and that the mechanisms by which these conditions might cause pain are not known.[9][10][11][12] Other studies suggest that for as many as 85% of cases, no physiological cause can be shown.[13][14]

A few studies suggest that psychosocial factors such as on-the-job stress and dysfunctional family relationships may correlate more closely with back pain than structural abnormalities revealed in X-rays and other medical imaging scans.[15][16][17][18]

There are several potential sources and causes of back pain.[19] However, the diagnosis of specific tissues of the spine as the cause of pain presents problems. This is because symptoms arising from different spinal tissues can feel very similar and it is difficult to differentiate without the use of invasive diagnostic intervention procedures, such as local anesthetic blocks.

One potential source of back pain is skeletal muscle of the back. Potential causes of pain in muscle tissue include muscle strains (pulled muscles), muscle spasm, and muscle imbalances. However, imaging studies do not support the notion of muscle tissue damage in many back pain cases, and the neurophysiology of muscle spasm and muscle imbalances is not well understood.

Another potential source of lower back pain is the synovial joints of the spine (e.g. zygapophysial joints/facet joints). These have been identified as the primary source of the pain in approximately one third of people with chronic low back pain, and in most people with neck pain following whiplash.[19] However, the cause of zygapophysial joint pain is not fully understood. Capsule tissue damage has been proposed in people with neck pain following whiplash. In people with spinal pain stemming from zygapophysial joints, one theory is that intra-articular tissue such as invaginations of their synovial membranes and fibro-adipose meniscoids (that usually act as a cushion to help the bones move over each other smoothly) may become displaced, pinched or trapped, and consequently give rise to nociception (pain).

There are several common other potential sources and causes of back pain; these include spinal disc herniation and degenerative disc disease or isthmic spondylolisthesis, osteoarthritis (degenerative joint disease) and lumbar spinal stenosis, trauma, cancer, infection, fractures, and inflammatory disease.[20] The anterior ligaments of the intervertebral disc are extremely sensitive, and even the slightest injury can cause significant pain.[21]

Radicular pain (sciatica) is distinguished from 'non-specific' back pain, and may be diagnosed without invasive diagnostic tests.

New attention has been focused on non-discogenic back pain, where patients have normal or near-normal MRI and CT scans. One of the newer investigations looks into the role of the dorsal ramus in patients that have no radiographic abnormalities. See Posterior Rami Syndrome.

In most cases of low back pain medical consensus advises not seeking an exact diagnosis but instead beginning to treat the pain.[22] This assumes that there is no reason to expect that the person has an underlying problem.[22] In most cases, the pain goes away naturally after a few weeks.[22] Typically, people who do seek diagnosis through imaging are not likely to have a better outcome than those who wait for the condition to resolve.[22]

In cases in which the back pain has a persistent underlying cause, such as a specific disease or spinal abnormality, then it is necessary for the physician to differentiate the source of the pain and advise specific courses of treatment.

The management goals when treating back pain are to achieve maximal reduction in pain intensity as rapidly as possible, to restore the individual's ability to function in everyday activities, to help the patient cope with residual pain, to assess for side-effects of therapy, and to facilitate the patient's passage through the legal and socioeconomic impediments to recovery. For many, the goal is to keep the pain to a manageable level to progress with rehabilitation, which then can lead to long-term pain relief. Also, for some people the goal is to use non-surgical therapies to manage the pain and avoid major surgery, while for others surgery may be the quickest way to feel better.

Not all treatments work for all conditions or for all individuals with the same condition, and many find that they need to try several treatment options to determine what works best for them. The present stage of the condition (acute or chronic) is also a determining factor in the choice of treatment. Only a minority of back pain patients (most estimates are 1% - 10%) require surgery.

For back pain with sciatica, injecting the spine with steroids into the epidural space under X-ray guidance may improve pain and reduce the need for surgery.[34]

For sacroiliac joints radiofrequency neurotomy is of unclear benefit.[35]

Surgery may sometimes be appropriate for people with:

Surgery is usually the last resort in the treatment of back pain. It is usually only recommended if all other treatment options have been tried or in an emergency situation. A 2009 systematic review of back surgery studies found that, for certain diagnoses, surgery is moderately better than other common treatments, but the benefits of surgery often decline in the long term.[36]

The main procedures used in back pain surgery are discetomies, spinal fusions, laminectomies, removal of tumors, and vertebroplasties.

There are different types of surgical procedures that are used in treating various conditions causing back pain. Nerve decompression, fusion of body segments and deformity correction surgeries are examples. The first type of surgery is primarily performed in older patients who suffer from conditions causing nerve irritation or nerve damage. Fusion of bony segments is also referred to as a spinal fusion, and it is a procedure used to fuse together two or more bony fragments with the help of metalwork. The latter type of surgery is normally performed to correct congenital deformities or those that were caused by a traumatic fracture. In some cases, correction of deformities involves removing bony fragments or providing stability provision for the spine. Another procedure to repair common intervertebral disc lesions which may offer rapid recovery (just a few days) involves the simple removal of the fibrous nucleus of the affected intervertebral disc.[37] Various techniques, such as in the following paragraph, are described in the literature.

A discectomy is performed when the intervertebral disc have herniated or torn. It involves removing the protruding disc, either a portion of it or all of it, that is placing pressure on the nerve root.[38] The disc material which is putting pressure on the nerve is removed through a small incision that is made over that particular disc. The recovery period after this procedure does not last longer than 6 weeks. The type of procedure in which the bony fragments are removed through an endoscope is called percutaneous disc removal.

Microdiscetomies may be performed as a variation of standard discetomies in which a magnifier is used to provide the advantage of a smaller incision, thus a shorter recovery process.

Spinal fusions are performed in cases in which the patient has had the entire disc removed or when another condition has caused the vertebrae to become unstable. The procedure consists in uniting two or more vertebrae by using bone grafts and metalwork to provide more strength for the healing bone. Recovery after spinal fusion may take up to one year, depending greatly on the age of the patient, the reason why surgery has been performed and how many bony segments needed to be fused.

In cases of spinal stenosis or disc herniation, laminectomies can be performed to relieve the pressure on the nerves. During such a procedure, the surgeon enlarges the spinal canal by removing or trimming away the lamina which will provide more space for the nerves. The severity of the condition as well as the general health status of the patient are key factors in establishing the recovery time, which may be range from 8 weeks to 6 months.

Back surgery can be performed to prevent the growth of benign and malignant tumors. In the first case, surgery has the goal of relieving the pressure from the nerves which is caused by a benign growth, whereas in the latter the procedure is aimed to prevent the spread of cancer to other areas of the body. Recovery depends on the type of tumor that is being removed, the health status of the patient and the size of the tumor.

People with back pain lasting for 3 months or more are at risk of physical, psychological and social dysfunctions. Such individuals are likely to experience less pain and disability if they receive a multidisciplinary intervention. This typically involves a combination of physical, psychological and educational interventions delivered by a team of specialists with different skills. Such multidisciplinary treatment programs are often quite intensive and expensive. They are more appropriate for people with severe or complex problems.[43]

People who have chronic back pain may have limited range of motion and/or tenderness upon touch. If the pain continues to worsen, or certain red flags that might indicate a variety of serious conditions are present further testing may be recommended. These red flags include weakness, numbness or tingling, fever, weight loss or problems with bowel and/or bladder control.

About 50% of women experience low back pain during pregnancy.[52] Back pain in pregnancy may be severe enough to cause significant pain and disability and pre-dispose patients to back pain in a following pregnancy. No significant increased risk of back pain with pregnancy has been found with respect to maternal weight gain, exercise, work satisfaction, or pregnancy outcome factors such as birth weight, birth length, and Apgar scores.

Biomechanical factors of pregnancy that are shown to be associated with low back pain of pregnancy include abdominal sagittal and transverse diameter and the depth of lumbar lordosis. Typical factors aggravating the back pain of pregnancy include standing, sitting, forward bending, lifting, and walking. Back pain in pregnancy may also be characterized by pain radiating into the thigh and buttocks, night-time pain severe enough to wake the patient, pain that is increased during the night-time, or pain that is increased during the day-time.

The avoidance of high impact, weight-bearing activities and especially those that asymmetrically load the involved structures such as: extensive twisting with lifting, single-leg stance postures, stair climbing, and repetitive motions at or near the end-ranges of back or hip motion can ease the pain. Direct bending to the ground without bending the knee causes severe impact on the lower back in pregnancy and in normal individuals, which leads to strain, especially in the lumbo-sacral region that in turn strains the multifidus.

Back pain is regularly cited by national governments as having a major impact on productivity, through loss of workers on sick leave. Some national governments, notably Australia and the United Kingdom, have launched campaigns of public health awareness to help combat the problem, for example the Health and Safety Executive's Better Backs campaign. In the United States lower back pain's economic impact reveals that it is the number one reason for individuals under the age of 45 to limit their activity, second highest complaint seen in physician's offices, fifth most common requirement for hospitalization, and the third leading cause for surgery.

An evolutionary perspective has been used to try to explain why humans have back pain. Selective pressures often resulted in our evolution as a species. At times we are able to postulate the reason for these changes, and other times we cannot seem to arrive at a logical conclusion about the possible benefits of the tradeoff. In the case of back pain, researcher Aaron G. Filler believes the evolutionary changes seen in the human skeleton occurred to ensure the survival of the species. Of special mention here is our ability to walk upright. Walking upright meant that our hands were now free to carry heavy objects and the young across great distances.[53]

See the original post here:
Back pain - Wikipedia, the free encyclopedia

Recommendation and review posted by simmons

NJDOH – New Born Screening & Genetic Services

Science has helped us understand how blue eyes or baldness as well as other inherited traits both harmless and harmful can run in a family. In the past few decades, largely due to the Human Genome Project and other scientific endeavors, knowledge has exploded in the field of human genetics.

Genetic services available in New Jersey include direct clinical care services as well as activities such as screening programs and laboratory services, educational activities and birth defects surveillance. The State of New Jersey partially funds a network of Genetic Centers [see the list at bottom of page] that provide testing, diagnosis, and ongoing management and comprehensive care of genetic conditions. Physicians specially trained in medical genetics, along with genetic counselors, nurses, social workers and other medical specialists provide comprehensive care to patients with genetic concerns.

Services may include some or all of the following: a review of your family and medical history; physical examination; laboratory testing; genetic counseling/education; and management or referral to other specialists experienced in treating or managing rare disorders. These services can provide information on certain disorders that you or your child may have inherited, how genetic conditions may be passed from one generation to another in a family, and what the risks are that certain conditions will affect you, your present or future pregnancies, or other members of your family.

Genetic counseling translates the science of genetics into practical information. Anyone who has unanswered questions about diseases or traits in their family should consider genetic counseling. People who might be especially interested are:

Resources:

American College of Medical Genetics (ACMG) http://www.acmg.net

Genetic Alliance http://www.geneticalliance.org/

Genetics Home Reference http://ghr.nlm.nih.gov/

Human Genetics Association of New Jersey (HGANJ) http://www.hganj.org

National Newborn Screening & Genetic Resource Center (NNSGRC) http://genes-r-us.uthscsa.edu/

National Organization for Rare Disorders, Inc. (NORD) http://www.rarediseases.org/

National Society of Genetic Counselors (NSGC) http://www.nsgc.org

Directory of Comprehensive Genetic Centers in New Jersey

*Children's Hospital of New Jersey Newark Beth Israel Medical Center 201 Lyons Avenue Newark, NJ 07112 Phone: (973) 926-4446

*Hackensack University Medical Center Genetics Service Don Imus Pediatric Center-Room 258 30 Prospect Avenue Hackensack, NJ 07601-1991 Phone (201) 996-5264 Outreach Clinics: Hoboken, Parsippany

*Saint Peter's University Hospital Institute for Genetic Medicine 254 Easton Avenue New Brunswick, NJ 08903 Phone: (732) 745-6659

*St. Joseph's Hospital and Medical Center Section of Genetics 703 Main Street Paterson, NJ 07503-2691 Phone: (973) 754-2727 Outreach Clinic: Fairfield

*UMDNJ/NJ Medical School Center for Human & Molecular Genetics 90 Bergen Street, Suite 5400 Newark, NJ 07103-2499 Phone: (973) 972-3300 Outreach Clinics: Pompton Plains, West New York

*Cooper Hospital/University Medical Center Division of Genetics 3 Cooper Plaza, Suite 309 Camden, NJ 08103 -1400 Phone: (856) 968-7255 Outreach Clinic: Childrens Regional Center at Voorhees

*Partially Funded By The New Jersey Department Of Health

Updated on 6/14/2013

Original post:
NJDOH - New Born Screening & Genetic Services

Recommendation and review posted by sam

Dr George Cotsarelis: Hair Follicle Stem Cells & Skin …

Presented at the 8th World Congress for Hair Research (2014) Jeju Island, South Korea.

Understanding molecular mechanisms for regeneration of hair follicles during wound healing provides new opportunities for developing treatments for hair loss and other skin disorders. We show that fibroblast growth factor 9 (fgf9) modulates hair follicle regeneration following wounding of adult mice. Inhibition of fgf9 during wound healing severely impedes this wound-induced hair follicle neogenesis (WIHN). Conversely, overexpression of fgf9 results in a 2-3 fold increase in the number of neogenic hair follicles. Remarkably, gamma-delta T cells in the wound dermis are the initial source of fgf9. Deletion of fgf9 gene in T cells in Lck-Cre;floxed fgf9 results in a marked reduction in WIHN. Similarly, mice lacking gamma-delta T cells demonstrate impaired follicular neogenesis.

We found that fgf9, secreted by gamma-delta T cells, initiates a regenerative response by triggering Wnt expression and subsequent Wnt activation in wound fibroblasts. Employing a unique feedback mechanism, activated fibroblasts then express fgf9, thus amplifying Wnt activity throughout the wound dermis during a critical phase of skin regeneration. Strikingly, humans lack a robust population of resident dermal gamma-delta T cells, potentially explaining their inability to regenerate hair.

These findings which highlight the essential relationship between the immune system and tissue regeneration, establish the importance of fgf9 in hair follicle regeneration and suggests its applicability for therapeutic use in humans.

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Dr George Cotsarelis: Hair Follicle Stem Cells & Skin ...

Recommendation and review posted by Bethany Smith

The Niche – Knoepfler lab stem cell blog

Media in Japan are reporting that Waseda University will shortly revoke the Ph.D. of STAP cell scientist Haruko Obokata. A hat tip to blog reader Tom on this story. The thesis contained plagiarized material and problematic data as did the Nature papers on which she was first author. Those papers were retracted and now apparently her thesis will essentially find the same fate.

Obokata had been given 1 year to correct her thesis, a potentially impossible task, and Japan TImes quotes a source that she didnt meet the deadline:

The former Riken researcher was last October given a year in which to correct a thesis she wrote in 2011. She failed to submit the revisions in time, the sources said, and a request for an extension was refused.

This is a further step in the winding down of the STAP cell mess following on the recent publication of papers by Nature refuting STAP. There is a sense that the supervision of Obokata as a young scientist was not effective, which is perhaps the main STAP element that is as yet not entirely resolved.

The voters have spoken and below is the list of the top 12 vote getters from the larger pool of nominees for Stem Cell Person of the Year in 2015. These are some amazing people.

Look for more information, such as mini-bios, soonon some of the top finalists.

There were nearly 4,700 votes in total.

Now I have the tough task of picking from this dozen just one winner, who will receive the recognition as the top stem cell outside the box innovator of 2015 and of course the $2,000 prize.

A draft agenda is now publicly available for the upcoming National Academy of Sciences (NAS) meeting on human gene editing. We now know a lot more about what to expect from this international gathering, which is called the International Summit on Human Gene Editing: A Global Discussion.

The meeting will start on day 1 with context from David Baltimore as well as other scientists from around the world. There will be scientific background on the technology and information on applications. Social Implications will be discussed. Sprinkled throughout the first day will be opportunities for comments and questions from the floor totaling about 2 hours on this day.

Image from National Academy of Medicine. Oops they made the DNA left-handed.

Day 2 looks to build on the themes of the first day, but now bringing in the issues of governance and more emphasis on international perspectives.

Day 3 will be focused more squarely on societal implications and governance including the crucial issue of commercialization. These days also provide time for comments and questions from the floor.

These windows of time will include opportunities for members of the public to bring their voices into the discussion. I asked a NAS spokesperson about the role of the public in the meeting and received this reply:

The organizing committee and staff and leadership of the academies have been identifying experts/stakeholders/interested parties from a range of disciplines and perspectives to invite to attend and participate in the summit. In addition, a general public registration will open next week, it will be open to anyone although seating is limited and dozens of people have already expressed interest in attending. And yes, public may participate in breakout sessions, and will have an opportunity to speak in public comment sessions as appropriate.

There will also be other opportunities for involvement according to the spokesperson:

Also, the video webcast will allow many people to view the proceedings and we expect a lively conversation on social media including at #GeneEditSummit

Since I will be at the meeting and blogging it live here, I hope that this site will in addition provide a forum for discussion involving a diverse group and boost democratic deliberation on this important topic.

The myostatin gene has been getting quite a bit of attention lately.

The buzz surrounds the idea of inhibiting myostatin either through gene therapy or via germline human genetic modification.

In this way, some hope to create people with more muscle. Myostatin, which also goes by the acronym MSTN, has an inhibitory function on muscle. Inhibit and inhibitor of muscle and you should get more muscle, right?

Data backs it up.

Animals including humans with spontaneous mutations in myostatin have unusualmusculature including increases in muscle. This NEJM case report on a boy with a myostatin mutation describes a remarkable phenotype of drastically increased muscle and reduced fat. No clear pathology was associated with the condition, which is referred to as myostatin-related muscle hypertrophy. More on that condition more generally here.

Pop culture isfascinated with the idea of genetically modifying people to artificially create this kind of super-muscle condition. Would they be like superheroes? Just last week came the first report of a person, Liz Parrish, supposedly doing a DIY gene therapy to target myostatin.

Scientists have recently reported a string of super-muscled animals created through genetic modification includingGM dogs and pigs.

If this kind of trend continues and increasingly involves people, what might go wrong? One possibility is that GM people who have had the myostatin pathway targeted could have other phenotypes or even diseases that we cannot anticipate.

Ive written a new book on human genetic modification. This is my second book as the first one was Stem Cells: An Insiders Guide, which is currently the top stem cell book on Amazon.The new book iscalled GMO Sapiens: The Life-Changing Science of Designer Babies.

You can pre-order ithereat Amazon or overhere at my publishers site.The newly updated cover is shown at right.

The title was chosen as a portmanteau (mashup) of GMO andHomo sapiens.

Weve been aiming for the book to come outin mid-late December. Im optimistic based on what I hear from the publisher, but well see.

Why write a book on human genetic modification?

The science in this areahas changed dramatically and both the wider scientific community and the public need to know what is going on so that they can participate in the dialogue.

Unlike in past decades, today the possibility of heritable human genetic modification is very real. Based on all that we now know it is reasonable to predict that someone will attempt to create genetically modified people(aka designer babies) in coming years. The results could be great or disastrous, but in either case (or probably more likely some mixture of the two) the outcomes are going to be revolutionary.

Are we ready for what may come next? How will this affect individuals and society as a whole?

More thinking, discussion, and transparency are urgently needed.The goal of this upcoming book is to move in a constructive direction by educating and stimulating debate as well as dialogue.

At the same time in the book, I am not afraid to tackle the real, but tough issues that are integral to this topic. It seems that up until now in science it has been somewhat taboo to talk about the possibility of designer babies.However, we dont have time to close our eyes to the reasonable probability that someone will try to make designer babies in the near future nor to pretend that nothing could go wrong for individuals or society. Already this year we saw the creation of the first genetically-modified human embryos in the lab using the amazing gene editing toolbox that is CRISPR. That is just one step, but may have opened the door to much more.

It addition to beinga resource for learning, my newbook is written to be an enjoyable read that is approachable to both an educated lay audience and scientists alike.

Heres the draft back cover blurb (could still change):

Genetically modified organisms (GMOs) including plants and the foods made from them are a hot topic of debate today, but soon related technology could go much further and literally change what it means to be human. Scientists are on the verge of being able to create people who are GMOs.

Should they do it? Could we become a healthier and better species or might eugenics go viral leading to a real, new world of genetic dystopia? GMO Sapiens tackles such questions by taking a fresh look at the cutting-edge biotech discoveries that have made genetically modified people possible.

Bioengineering, genomics, synthetic biology, and stem cells are changing sci-fi into reality before our eyes. This book will capture your imagination with its clear, approachable writing style. It will draw you into the fascinating discussion of the life-changing science of human genetic modification.

See more here:
The Niche - Knoepfler lab stem cell blog

Recommendation and review posted by Bethany Smith


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