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The New England Journal of Medicine: Search Results in Genetics
The New England Journal of Medicine (NEJM) RSS feed -- Search Results in Genetics. NEJM ( is a weekly general medical journal that publishes new medical research findings, review articles, and editorial opinion on a wide variety of topics of importance to biomedical science and clinical practice.

IDH2 Mutation in a Patient with Metastatic Colon Cancer
31/12/69 - To the Editor: Detection of circulating tumor DNA (ctDNA) in cell-free DNA (cfDNA) is an emerging noninvasive strategy for tumor profiling. However, an understanding of potential biologic interference associated with this new technique is still evolving. Here, we present a case that posed a…

Tuberous Sclerosis Complex
31/12/69 - Figure 1.

Cancer-Associated Mutations in Endometriosis without Cancer
31/12/69 - Endometriosis is a relatively common disease, affecting up to 10% of women of reproductive age. Its incidence is as high as 50% among adolescents with pelvic pain. Clinical symptoms include dysmenorrhea, pelvic pain, and infertility. Endometriotic lesions are considered to be benign (nonmalignant…

Zika Virus Vaccines ? A Full Field and Looking for the Closers
31/12/69 - The Zika virus (ZIKV) epidemic, which started in 2015, is having a considerable effect on global public health, blood-product safety, and international travel and is further fueling the debate on elective termination of pregnancy. ZIKV infection is the latest infectious disease to reveal our…

New Lessons about Endometriosis ? Somatic Mutations and Disease Heterogeneity
31/12/69 - Endometriosis is a common estrogen-dependent inflammatory disorder that affects 6 to 10% of women of reproductive age and up to 50% of women with infertility and pelvic pain. Endometriosis is a complex disease with risk influenced by many factors; its pathogenesis is poorly understood, and current…

Academic, Foundation, and Industry Collaboration in Finding New Therapies
31/12/69 - Breakthroughs in the ability to probe and better understand biologic systems during the past 30 years have enabled the medical community to develop new therapeutic agents and change the course of many life-shortening diseases. Despite this success, bridging the gap between promising laboratory…

GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates
31/12/69 - To the Editor: Atypical femoral fractures have been associated with long-term bisphosphonate treatment. However, the underlying mechanisms remain obscure. We studied three sisters who had atypical femoral fractures after receiving various oral bisphosphonates for 6 years. Two of the sisters had a…

Case 13-2017: A 41-Year-Old Man with Hearing Loss, Seizures, Weakness, and Cognitive Decline
31/12/69 - Presentation of Case. Dr. Haatem M. Reda: A 41-year-old man was seen in the neurology clinic of this hospital because of seizures, weakness, and cognitive decline. The patient had a history of migraine headaches, sensorineural hearing loss, and chronic proteinuria. He had been in his usual health…

Overexpression of the Cytokine BAFF and Autoimmunity Risk
31/12/69 - Multiple sclerosis and systemic lupus erythematosus (SLE) are autoimmune diseases caused by largely unknown environmental factors acting in genetically susceptible persons. Genomewide association studies have provided statistical support for more than 110 independent signals for multiple sclerosis…

A BAFFling Association between Malaria Resistance and the Risk of Multiple Sclerosis
31/12/69 - B cells are increasingly recognized as a therapeutic target in autoimmune diseases. B-cell?depleting therapy with the use of rituximab, a monoclonal antibody to CD20, is approved for the treatment of rheumatoid arthritis and antineutrophil cytoplasmic antibody?associated vasculitis and is…

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