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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.

Olaparib for Metastatic Breast Cancer in Patients with a Germline BRCA Mutation
01/01/70 - Approximately 5% of unselected patients with breast cancer carry a germline BRCA mutation. Such mutations are more likely to be present in patients who have a strong family history of breast cancer, younger patients, patients who have triple-negative (i.e. human epidermal growth factor receptor…

NAD Deficiency, Congenital Malformations, and Niacin Supplementation
01/01/70 - Major congenital malformations occur in at least 2% of human births. There are relatively few identified causes. The origins of most malformations have been difficult to determine and probably involve genetic and environmental factors or gene?environment interaction. Although malformations…

Analysis of Plasma Epstein?Barr Virus DNA to Screen for Nasopharyngeal Cancer
01/01/70 - Analysis of circulating DNA derived from cancer cells, which is frequently known as a "liquid biopsy," is being evaluated as a tool in the care of patients with cancer. Although a wide range of cancer-associated changes, including point mutations, copy-number aberrations, and alterations in DNA…

Metabolism and Congenital Malformations ? NAD?s Effects on Development
01/01/70 - We have long known that metabolism must be tightly controlled to support the needs of individual cells and tissues. Nutrient oxidation is necessary for the production of adenosine triphosphate (ATP), which supports energetically unfavorable processes in cells, and for the metabolic conversion of…

Supporting Women?s Autonomy in Prenatal Testing
01/01/70 - Early and noninvasive fetal genetic sequencing is on the horizon. Such expanded prenatal testing could offer patients substantial benefits. But current practices in prenatal screening and the complex nature of genomic science and technology create the risk that these tests will be integrated into…

Plasma Epstein?Barr Virus DNA for Screening
01/01/70 - In this issue of the Journal, Chan et al. report on the monitoring of Epstein?Barr virus (EBV) DNA in plasma samples to screen a population that was at high risk for nasopharyngeal carcinoma. Although interest in monitoring circulating cell-free tumor DNA has surged, the application of this method…

Midostaurin plus Chemotherapy for Acute Myeloid Leukemia with a FLT3 Mutation
01/01/70 - Acute myeloid leukemia (AML) is a heterogeneous disease that remains challenging to treat because of patient factors (age and coexisting diseases) and intrinsic biologic factors. Cytogenetic and mutational data are used to divide patients into subgroups defined according to prognostic factors and…

IgG Endopeptidase in Highly Sensitized Patients Undergoing Transplantation
01/01/70 - Although renal transplantation is considered to be the treatment of choice for patients with end-stage renal disease, rates of transplantation remain low among patients with high levels of preformed anti-HLA antibodies. In such cases, the immunologic barrier, which is linked to an increased risk of…

Xanthomas in Familial Hypercholesterolemia
01/01/70 - Figure 1.

Potential Pitfall of Pluripotent Stem Cells
01/01/70 - Pluripotent stem cells are entering early phase 1 and 2 clinical trials for a range of applications, including the treatment of macular degeneration and other eye diseases, spinal cord injury, heart disease, type 1 diabetes, and Parkinson?s disease. By necessity, both pluripotent embryonic stem…

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