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Look At Me: Why Genetic Test Results Don't Tell the Full Story

I sometimes wonder what difference it would have made if my mom knew that I had Turner syndrome while she was pregnant with me. She is adamant she never would have aborted me. But today, pre-natal genetic screenings and other fetal tests for Turner syndrome are widely used, and I worry that too many are making irreversible decisions without understanding the disorder. Studies around the world have shown parents abort an average of 76 percent of fetuses found to have TS. Like Down syndrome or autism, Turner is a spectrum disorder with symptoms that range in severity, and a diagnosis is no indication of what an individual's life will be. A girl who has it -- like me -- can be happy, intelligent and highly successful. I wasn't diagnosed until I was 4. I was on the short side of average, but my grandmother was 4 feet 10 inches, so that wasn't completely surprising. There was, and still is, nothing visibly wrong with me. I was a pretty normal child who loved singing tunes from the Little Mermaid. But just search for "Turner syndrome" in Google, and you'll find possible symptoms that would make any pregnant woman pause. Infertility. Webbed neck. Kidney failure. Learning disability. "Skeletal abnormalities." TS is a random mutation caused by complete or partial absence of the second sex chromosome. It occurs in approximately 1 of every 2,000 live female births. "At the basic level, the missing genetic material keeps the female body from maturing naturally,&q...
Source: Science - The Huffington Post - Category: Science Source Type: news

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One month after stepping down as head of research and development at Gilead Sciences, Norbert Bischofberger has taken the helm of a new cancer drug startup in Cambridge. Kronos Bio formally announced its launch on Wednesday. The company is operating out of LabCentral, and has collected $18 million in seed financing from various venture funds and individual investors. They include Bischofberger, who spent more than 30 years with California-based Gilead (Nasdaq: GIL D) before leaving in April. Kronos’…
Source: bizjournals.com Health Care:Pharmaceuticals headlines - Category: Pharmaceuticals Authors: Source Type: news
Norbert Bischofberger rides again. The 62-year-old former chief scientific officer at Gilead Sciences Inc. (NASDAQ: GILD), who stepped down last month after overseeing the development of groundbreaking and sometimes-controversial HIV and hepatitis C drugs, will become president and CEO of Cambridge, Mass., cancer-fighting startup K ronos Bio Inc. And Bischofberger, an investor in Kronos' $18 million seed round disclosed Wednesday, isn't alone: Also investing in the company is Gilead's executive…
Source: bizjournals.com Health Care:Pharmaceuticals headlines - Category: Pharmaceuticals Authors: Source Type: news
Spyridon N. Karras, Theocharis Koufakis, Hana Fakhoury, Kalliopi Kotsa
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Jie Wang, Gejing De, Qiaoxin Yue, Hai Ma, Jintang Cheng, Guangwei Zhu, Maobo Du, Hong Yi, Qinghe Zhao, Yanjun Chen
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
Hua Xing, Lirong Zhang, Jinshu Ma, Zhen Liu, Changlong Song, Yuxia Liu
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
You are probably familiar with the Mediterranean diet, which emphasizes fruits, vegetables, nuts, whole grains and olive oil. The diet has been associated with a lower incidence of cardiovascular disease, cancer and Type 2 diabetes, as well as a reduced risk of Alzheimer's and Parkinson's diseases. But there's another diet that has its roots overseas, and it appears to offer similar health benefits.
Source: CNN.com - Health - Category: Consumer Health News Source Type: news
Conclusion: The advanced T stage and overall stage were associated with decreased survival after surgical treatment in patients with SCC of the EAC, highlighting the importance of clinical vigilance and early detection. PMID: 29779363 [PubMed - as supplied by publisher]
Source: Clinical and Experimental Otorhinolaryngology - Category: ENT & OMF Tags: Clin Exp Otorhinolaryngol Source Type: research
Source: Cancer Letters - Category: Cancer & Oncology Source Type: research
Pancreatic cancer symptoms include belly or back pain, nausea and yellowing of the eyes and skin, among others. You could prevent one of the most deadly types of cancer by losing weight, in order to maintain a healthy body weight.
Source: Daily Express - Health - Category: Consumer Health News Source Type: news
Authors: Sagawa J, Yoshii Y, Kubota M Abstract The patient was a 32-year-old Japanese woman who was given a 75-g oral glucose tolerance test at the 35th week of pregnancy and was normoglycemic. She had excessive thirst and polyuria from 15 days after delivery. When she visited for the 1-month postpartum checkup, her plasma glucose level was 479 mg/dL, HbA1c was 7.4%, and urinary C-peptide was 1.1 μg/mL; she was therefore diagnosed with fulminant type 1 diabetes mellitus associated with pregnancy. All physicians should be aware of this disease so as to provide a prompt diagnosis and emergency treatment and conseq...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
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