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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.

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
31/12/69 - Many patients with chronic diseases remain without a diagnosis despite extensive medical evaluation. In 2008, the Undiagnosed Diseases Program (UDP) was established at the National Institutes of Health (NIH) Clinical Center to meet the needs of patients with undiagnosed diseases and to investigate…

Case 36-2018: A 29-Year-Old Man with an Incidentally Discovered Renal Mass
31/12/69 - Presentation of Case. Dr. Keyan Salari (Urology): A 29-year-old man was seen at this hospital because of an incidentally discovered renal mass. The patient had been well until 6 weeks before this evaluation, when he identified a painless lump above his left testicle during a monthly…

Phosphatidylinositol 3-Kinase, Growth Disorders, and Cancer
31/12/69 - The discovery of phosphatidylinositol 3-kinase (PI3K) changed the way we view and understand growth-factor signaling. From early on, it became clear that PI3K plays an important role in many disease states. However, its discovery as an oncogene in an age when cancer biology was coming to the fore…

A Novel Familial Cardiac Arrhythmia Syndrome with Widespread ST-Segment Depression
31/12/69 - To the Editor: Several classic cardiac genetic disorders have been identified from specific electrocardiographic (ECG) patterns. Here, we describe five unrelated families, from three different countries, with features that appear to represent a previously unrecognized autosomal dominant syndrome.…

Application of Cell-free DNA Analysis to Cancer Treatment
31/12/69 - Tumor biopsies represent the standard for cancer diagnosis and the primary method for molecular testing to guide the selection of precision therapies. Liquid biopsies, particularly those involving cell-free DNA (cfDNA) from plasma, are rapidly emerging as an important and minimally invasive adjunct…

Hemoglobinopathies in the Fetal Position
31/12/69 - The hemoglobinopathies, disorders that are caused by mutations in genes that encode the "adult" globins, exert a devastating toll on patients and their families. Worldwide, approximately 300,000 babies are born with sickle cell disease and 60,000 are born with ?-thalassemia each year. However, if…

The Coming of Age of Drug-Susceptibility Testing for Tuberculosis
31/12/69 - Tuberculosis is the leading infectious cause of death worldwide, claiming 1.6 million lives annually. Antimicrobial resistance is undermining efforts to curb the global tuberculosis epidemic: among the 10.6 million cases of tuberculosis that occurred in 2016, less than a quarter of the estimated…

Bilateral Vestibular Schwannomas in Neurofibromatosis Type 2
31/12/69 - Figure 1.

National Coverage Analysis of CAR-T Therapies ? Policy, Evidence, and Payment
31/12/69 - In December 2017, the Boston radio station WBUR chronicled the case of the first patient at Massachusetts General Hospital to receive axicabtagene ciloleucel (Yescarta, Gilead) outside a clinical trial. The chimeric antigen receptor T cells (CAR-Ts) were made from 71-year-old Barbara Kearney?s own…

Classification, Ontology, and Precision Medicine
31/12/69 - A goal of precision medicine is to stratify patients in order to improve diagnosis and medical treatment. Translational investigators are bringing to bear ever greater amounts of heterogeneous clinical data and scientific information to create classification strategies that enable the matching of…

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