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A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency
Conclusion: We identified a novel non-sense mutation in MTHFR gene in a single Egyptian family with severe MTHFR deficiency. The present investigation is clinically important, as it adds to the growing list of MTHFR mutations, which might help in genetic counseling of families of affected children and proper genotype-phenotype correlation. Background Severe 5,10-Methylenetetrahydrofolate reductase (MTHFR; OMIM 236250) deficiency is a rare inborn error of metabolism and inherited in an autosomal recessive fashion. It is a very common disorder of folate metabolism and is clinically characterized with low plasma methion...
Source: Frontiers in Neurology - April 23, 2019 Category: Neurology Source Type: research

Plasma Metal Concentrations and Incident Coronary Heart Disease in Chinese Adults: The Dongfeng-Tongji Cohort
Conclusions: Our study suggested that incident CHD was positively associated with plasma levels of titanium and arsenic, and inversely associated with selenium. Additional research is needed to confirm these findings in other populations. https://doi.org/10.1289/EHP1521 Received: 22 December 2016 Revised: 17 September 2017 Accepted: 19 September 2017 Published: 19 October 2017 Address correspondence to T. Wu, or A. Pan, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, 13 Hongkong Rd., Wuhan 430030, Hubei, China. Telephone: +86-27-83692347. Email: wut@mails.tjmu.edu.cn or p...
Source: EHP Research - October 20, 2017 Category: Environmental Health Authors: Daniil Lyalko Tags: Research Source Type: research

For post-menopausal women, vaginal estrogens do not raise risk of cancer, other diseases
This study, the first to examine potential adverse health effects in users of vaginal estrogen compared with non-users, suggests that vaginal estrogen therapy is a safe treatment for genitourinary symptoms such as burning, discomfort, and pain during intercourse associated with menopause.AUTHORSThe paper ’s authors are Dr. Carolyn Crandall of UCLA; Kathleen Hovey of the State University of New York at Buffalo; Christopher Andrews of the University of Michigan; Dr. Rowan Chlebowski of City of Hope; Marcia Stefanick of Stanford University; Dr. Dorothy Lane of the State University of New York at Ston y Brook; Dr. Jan Shifre...
Source: UCLA Newsroom: Health Sciences - August 16, 2017 Category: Universities & Medical Training Source Type: news

Reversing the effects of the new anti-clotting drugs
The oral anticoagulant warfarin (Coumadin) became available for prescription in 1954. This anti-clotting drug commanded national attention when President Dwight Eisenhower received the drug as part of his treatment following a heart attack. No other oral anticoagulant was successfully developed and marketed in the United States until 2010. Warfarin is a dangerous drug. Along with insulin, it is responsible for the most emergency hospitalizations due to adverse drug reactions. Whereas insulin causes low blood sugar, warfarin is notorious for the complication of major bleeding. Warfarin is plagued by hundreds of drug-drug an...
Source: New Harvard Health Information - December 9, 2015 Category: Consumer Health News Authors: Samuel Z. Goldhaber, MD Tags: Drugs and Supplements Health Heart Health Hypertension and Stroke anti-clotting coumadin deep-vein-thrombosis DVT Source Type: news

Hidden cancer rarely causes out-of-the-blue clots in the bloodstream
Blood clots can be lifesavers when they form outside the bloodstream to stop bleeding from an injury. But they can wreak havoc when they form inside the bloodstream. A blood clot in a coronary artery can cause a heart attack. One in the brain can cause a stroke. Blood clots that form in a leg vein cause a problem known as venous thromboembolism, or VTE. If the clot stays in the leg, it can cause swelling or pain. If it breaks away and travels to the lungs, it can cause a potentially deadly pulmonary embolism. In about half of people who develop a VTE, doctors can identify what caused it. Common causes include an injury; su...
Source: New Harvard Health Information - June 29, 2015 Category: Consumer Health News Authors: Howard LeWine, M.D. Tags: Cancer blood clot venous thromboembolism VTE Source Type: news