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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CONCLUSIONS: Radiation therapy continues to be an integral component of the palliative armamentarium against painful metastases. Radiation oncologist, in conjunction with referral physicians, can tailor treatment plans to reflect the needs of a given patient. PMID: 30109789 [PubMed - in process]
Source: The Israel Medical Association Journal - Category: General Medicine Tags: Isr Med Assoc J Source Type: research
CONCLUSIONS: A minority of pregnant women met the recommended GWG. No difference was noted between normal and high-risk pregnancies. High-risk population tended to have a less healthy lifestyle. Counseling to follow a healthy, balanced diet should be recommended, regardless of pregnancy risk, with particular attention to women at high risk of extra weight gain. PMID: 30109788 [PubMed - in process]
Source: The Israel Medical Association Journal - Category: General Medicine Tags: Isr Med Assoc J Source Type: research
CONCLUSIONS: A CNB to confirm mammographic or clinical findings of breast lesions is an accurate method to establish a pathological diagnosis of breast lesions. The accuracy is higher for invasive carcinomas than for non-invasive cancers. Excisional biopsies are necessary for lesions with anticipated sampling errors or when the core needle biopsy findings are discordant with clinical or mammographic findings. PMID: 30109786 [PubMed - in process]
Source: The Israel Medical Association Journal - Category: General Medicine Tags: Isr Med Assoc J Source Type: research
Autism is a complex disorder with largely unknown causes.
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Japan's Eisai Co Ltd said on Thursday it would price its cancer drug Lenvima at about $16,000 for a month's supply before discounts, after the U.S. Food and Drug Administration approved its use in patients with a common form of liver cancer.
Source: Reuters: Health - Category: Consumer Health News Tags: healthNews Source Type: news
At 76, Aretha Franklin died of pancreatic cancer, one of the most deadly forms of the disease. An expert explained to Daily Mail Online why, even with the safer form she had, pancreatic cancer kills.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
Publication date: Available online 16 August 2018Source: Journal of Molecular Graphics and ModellingAuthor(s): Jakub Kollar, Vladimir FrecerAbstractInhibitors of histone deacetylase superfamily (HDAC), which induce cell cycle arrest, trigger cell death and reduce angiogenesis appear as promising anti-cancer drugs targeting the epigenetic regulation of gene expression. Approved HDAC inhibitors were found effective against haematological and solid malignancies, other HDACIs are currently in clinical trials for the treatment of neurological diseases or immune disorders. Among those, diarylcyclopropane hydroxamic acids (DCHA) ...
Source: Journal of Molecular Graphics and Modelling - Category: Molecular Biology Source Type: research
The oral therapy lenvatinib joins sorafenib as the only drugs approved for first-line treatment of patients with unresectable hepatocellular carcinoma.FDA Approvals
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Cancer researchers and FBI agents have more in common than one might think at first blush. “We’re chasing down cancer clues, you’re chasing down people trying to do us harm, but ultimately, trying to find the truth,” Dr. Brian Druker, director of the OHSU Knight Cancer Institute, told a group of Oregon FBI officials on Wednesday. Druker was at the Oregon FBI headquarters near t he Portland International Airport as part of the agency’s leadership speaker series. Columbia Sportswear CEO…
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Phys. Chem. Chem. Phys., 2018, Accepted Manuscript DOI: 10.1039/C8CP04315A, PaperChristian Solis-Calero, Geancarlo Zanatta, Cl áudia Pessoa, Hernandes Faustino Carvalho, Valder Nogueira Freire Urokinase plasminogen activator (uPA) is a biomarker and therapeutic target for several cancer types whose inhibition has been shown to slow tumor growth and metastasis. In this work, crystallographic data... The content of this RSS Feed (c) The Royal Society of Chemistry
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