MedWorm provides a medical RSS filtering service. Over 6000 RSS medical sources are combined and output via different filters. This feed contains the latest medical blog items that have been tagged with 'ashkenazi'. Sat, 03 Sep 2011 02:30:44 +0100 http://www.medworm.com/index.php?rid=3432876&cid=t_131675_87_f&fid=38368&url=http%3A%2F%2Ffeedproxy.google.com%2F%7Er%2FDisruptiveWomenInHealthCare%2F%7E3%2F9Ym_mBxekcI%2F The following is a guest post by Archelle Georgiou, MD. Archelle is a 40-something year old doctor and the health expert on Fox9 News in the Twin Cities. She has spent 25 years in health care… in private practice, in corporate America, and now has her own consulting practice, Georgiou Consulting, so that she can pursue health care projects, initiatives, and causes she believes are most meaningful to making a difference for people. Archelle blogs at Archelle on Health. We all enjoy the heart-warming stories of siblings who are separated at birth and miraculously re-connected with each other as adults. We empathize with the need for adopted individuals to search for their biological parents. Why? Because we have an innate need to know who we are, where we came from, and who we are con... Disruptive Women in Health Care blogs http://www.medworm.com/rss/comments.php?id=3432876 Thu, 01 Apr 2010 17:40:38 +0100 3432876 http://www.medworm.com/index.php?rid=2653941&cid=t_131675_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FuEqydlj8BvI%2F Pain is a good thing. The sensation helps us know that bumping our heads on the table edge hurts. Pain tells us when something is wrong in our body, and warns us to do something about it. And in most people, pain comes with tears. Whereas most of us would cry in pain when hurt, children like Avigail Eshet do not feel the pain, or shed a tear. Avigail suffers from a rare genetic disorder that numbs her sense of pain and reaction to temperature. Avigail is in danger of hurting herself from accidents and she would not even feel it. And when the 8-year old girl gets upset or stressed, she produces excess adrenalin that drives her blood pressure and heart rate through the roof. She also suffers from frequent lung infections and pneumonia and has trouble swallowing her food. I wouldn’t even ... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2653941 Thu, 30 Jul 2009 06:59:48 +0100 2653941 http://www.medworm.com/index.php?rid=2442555&cid=t_131675_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2009%2F05%2F24%2Fgenetic-testing-for-hereditary-breast-and-ovarian-cancers-greatly-underutilized-by-high-risk-women%2F A women’s lifetime breast cancer risk is approximately 13 percent, and her ovarian cancer risk is less than 2 percent.  But women with BRCA1 (BReast CAncer 1) or BRCA2 (BReast CAncer 2) gene mutations may be 3 to 7 times more likely to develop breast cancer, and 9 to 30 times more likely to develop [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=2442555 Mon, 25 May 2009 01:03:00 +0100 2442555 http://www.medworm.com/index.php?rid=2382685&cid=t_131675_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2F0fnUw1d66vc%2F Ashkenazi Jews are known to have an average IQ between 107-115, putting half of the ethnic group into the genius range. Unfortunately, Ashkenazi Jews are also plague with genetic diseases! One fourth of the population is a carrier of one of several genetic conditions, which include Tay-Sachs Disease, Canavan, Niemann-Pick, Gaucher, Familial Dysautonomia, Bloom Syndrome, Fanconi anemia, Cystic Fibrosis and Mucolipidosis IV. A “carrier” for a gene means that the person carries only one copy of the gene. The gene is not expressed in that person’s trait or phenotype. However, marrying another carrier or someone with two copies of the gene may produce children with the trait. For example, a carrier for blue eyes may have a different eye color but has children with blue eyes. When talk... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2382685 Sun, 03 May 2009 04:27:25 +0100 2382685 http://www.medworm.com/index.php?rid=2381062&cid=t_131675_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2009%2F04%2F30%2Fwomen-of-diverse-ethnic-ancestry-have-similar-risk-of-carrying-brca-mutations-as-those-with-western-european-ancestry%2F ” …The study, performed by researchers at Philadelphia’s Fox Chase Cancer Center and Myriad Genetics, Inc., analyzed the prevalence of BRCA1/BRCA2 gene mutations in patients of different ethnicities at risk for hereditary breast and ovarian cancer. The study included test results of 46,276 women during the ten-year period from 1996 to 2006. Study subjects encompassed [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=2381062 Thu, 30 Apr 2009 23:12:40 +0100 2381062 http://www.medworm.com/index.php?rid=2299065&cid=t_131675_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2009%2F03%2F24%2Froutine-screening-for-hereditary-breast-and-ovarian-cancer-recommended-by-acog-sgo%2F Evaluating a patient’s risk of hereditary breast and ovarian cancer syndrome is an important first step in cancer prevention and early detection and should be a routine part of ob-gyn practice. Those who are likely to have the syndrome should be referred for further assessment to a clinician with expertise in genetics, according to a [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=2299065 Wed, 25 Mar 2009 03:55:32 +0100 2299065 http://www.medworm.com/index.php?rid=1756994&cid=t_131675_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2008%2F09%2F02%2Fhollywood-celebs-raise-awareness-regarding-hereditary-breast-and-ovarian-cancer%2F Christina Applegate - Samantha Who? Recently diagnosed in July 2008 with breast cancer, Christina Applegate appeared on ABC’s Good Morning America program in August. The talented, Emmy award winning actress is currently the star of the ABC sitcom “Samantha Who?” Applegate came into the Hollywood limelight when she appeared in popular Fox sitcom “Married [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=1756994 Wed, 03 Sep 2008 16:43:56 +0100 1756994 http://www.medworm.com/index.php?rid=781702&cid=t_131675_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F08%2Ftcf7l2-strikes-again-this-time-its.html The Latest edition of Mendel's Garden is up at Scienceroll. If you haven't seen it, the Gregorian Rap All-Stars video is a must see! It's official. I can say without any doubt that the gene TCF7L2 is somehow implicated in diabetes. Another whole genome association study was performed and results were published in the American Journal of Human Genetics. The study which performed because there only exist a handful of genes that have been implicated in the genetics of diabetes. These include PPAR gamma, TCF7L2, KCNJ11, CPN10, FTO. And because GWAS is hot now. They selected 4 populations, all Caucasian. 200 Finns with diabetes and 200 without, similar numbers of Ashkenazi Jews, 100 soccer hooligans from Manchester and 99 affected Brits, as well as 100 Germans with diabetes and another 100 with... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=781702 Sun, 05 Aug 2007 23:43:00 +0100 781702 http://www.medworm.com/index.php?rid=734011&cid=t_131675_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F07%2Fthis-week-in-nejm.html So I have been reading about how the new article in the New England Journal of Medicine shows that BRCA gene mutations are not worse than sporadic breast cancers due to non-BRCA mutations.If you look at the article you will see that there are many reasons why this is flawed thinking. But more importnatly it flies in the face of another study which actually showed and increased risk in worse outcomes with BRCA1 mutations.So on closer inspection what was the NEJM article about?They took all breast cancer specimens available in Israel's National Healthcare repository and looked for 3 I repeat 3 FOUNDER MUTATIONS....... This immediately makes the study invalid to comparison on women who have non ashkenazi mutations, especially if they are not founder mutations.Secondly they analyzed outcomes r... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=734011 Fri, 13 Jul 2007 01:20:00 +0100 734011 http://www.medworm.com/index.php?rid=675908&cid=t_131675_131_f&fid=34976&url=http%3A%2F%2Ftalk.dnadirect.com%2F2007%2F06%2F06%2Ffast-facts-about-niemann-pick-disease%2F The last Ashkenazi Jewish genetic condition left for me to cover, aside from Cystic Fibrosis which has high carrier rates for all people with Caucasian ancestry (1/25), is Niemann-Pick disease. There are five subtypes of Niemann-Pick disease, though only Type A is more frequent in Ashkenazi Jewish populations. * Niemann-Pick disease type A is a neurodegenerative disorder that causes babies to experience feeding difficulty, recurrent vomiting, and enlargement of the spleen and liver. Like Tay-Sachs disease, a child's decline can be rapid and death usually occurs by 3-5 years of age, due to infections such as pneumonia. (Source: DNA Direct Talk) DNA Direct Talk blogs http://www.medworm.com/rss/comments.php?id=675908 Wed, 06 Jun 2007 17:13:21 +0100 675908 http://www.medworm.com/index.php?rid=629231&cid=t_131675_131_f&fid=34976&url=http%3A%2F%2Ftalk.dnadirect.com%2F2007%2F05%2F22%2Ffast-facts-about-fanconi-anemia-type-c%2F A while back, I began a series of short posts on genetic conditions that are most common in people with Ashkenazi Jewish heritage. Now it's time to pick those back up again. Where were we? Fanconi Anemia. Fanconi Anemia is a blood disorder characterized by deficiency of red blood cells, white blood cells and platelets. Fanconi Anemia (Type C) causes developmental delay, increased risk of cancer, and congenital birth defects. (Source: DNA Direct Talk) DNA Direct Talk blogs http://www.medworm.com/rss/comments.php?id=629231 Tue, 22 May 2007 20:34:55 +0100 629231 http://www.medworm.com/index.php?rid=523047&cid=t_131675_131_f&fid=34976&url=http%3A%2F%2Ftalk.dnadirect.com%2F2007%2F04%2F05%2Ffast-facts-about-mucolipidosis-type-iv%2F Mucolipidosis IV (ML4) is a neurodegenerative disorder characterized by growth and developmental delays, progressive retinal degeneration, and crossed eyes. It has relatively high carrier rates in the Ashenazi Jewish community. ... (Source: DNA Direct Talk) DNA Direct Talk blogs http://www.medworm.com/rss/comments.php?id=523047 Thu, 05 Apr 2007 18:47:16 +0100 523047 http://www.medworm.com/index.php?rid=504166&cid=t_131675_131_f&fid=34976&url=http%3A%2F%2Ftalk.dnadirect.com%2F2007%2F03%2F27%2Ffast-facts-about-canavan-disease%2F Canavan disease is one of the most common Ashkenazi Jewish genetic conditions. 1 in 40 Ashkenazi Jews are carriers of Canavan disease. As a result of this high carrier rate and the seriousness of the condition, the American College of Medical Genetics and the American College of Obstetrics and Gynecology recommend Canavan carrier screening for all Ashkenazi Jewish individuals before pregnancy. (Here's the ACMG statement) (Source: DNA Direct Talk) DNA Direct Talk blogs http://www.medworm.com/rss/comments.php?id=504166 Tue, 27 Mar 2007 18:03:42 +0100 504166 http://www.medworm.com/index.php?rid=482215&cid=t_131675_131_f&fid=34976&url=http%3A%2F%2Ftalk.dnadirect.com%2F2007%2F03%2F01%2Ffast-facts-about-familial-dysautonomia%2F Familial Dysautonomia, also called FD, is a neurologic disorder characterized by episodic vomiting, abnormal sweating, pain and temperature insensitivity, an inability to produce tears, scoliosis, and abnormal feeding and sucking difficulties. This disease is found almost exclusively in Ashkenazi Jewish families. * 1 in every 36 Ashkenazi Jews is a carrier of FD – and the disease is almost exclusively found in Ashkenazi Jewish families. * When two carriers have a child together, there is a 1 in 4 chance the child will have Familial Dysautonomia. (See autosomal recessive inheritance) ... (Source: DNA Direct Talk) DNA Direct Talk blogs http://www.medworm.com/rss/comments.php?id=482215 Thu, 01 Mar 2007 18:34:25 +0100 482215 http://www.medworm.com/index.php?rid=482217&cid=t_131675_131_f&fid=34976&url=http%3A%2F%2Ftalk.dnadirect.com%2F2007%2F02%2F23%2Ffast-facts-about-bloom-syndrome%2F I've posted recently on Ashkenazi Jewish genetic diseases. Here's one you don't hear about that often: Bloom Syndrome. It's is a condition that, although very rare in the general population, has much higher carrier rates among Ashkenazi Jews. What is Bloom Syndrome? * One in 100 Ashkenazi Jews are unaffected carriers – they carry one copy of the gene change that causes Bloom Syndrome. When two carriers have a child together, there is a 1 in 4 chance the child will have Bloom Syndrome. (See autosomal recessive inheritance) * People with Bloom Syndrome have characteristic appearances that include a long, narrow face, prominent nose and ears, and a smaller-than-average stature. The also have a tendency to develop patches of reddened skin on the face. * Affected individuals have a hig... DNA Direct Talk blogs http://www.medworm.com/rss/comments.php?id=482217 Fri, 23 Feb 2007 19:28:46 +0100 482217