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Nejm News Une Mise à Jour The New England Journal of Medicine by Specialties

 


The New England Journal of Medicine: Search Results in Genetics
The New England Journal of Medicine (NEJM) RSS feed -- Search Results in Genetics. NEJM (http://www.nejm.org) 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.

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome
01/01/70 - Deletions on chromosome 22q11.2 are the most common cause of the DiGeorge syndrome (Online Mendelian Inheritance in Man [OMIM] number, 188400) and the velocardiofacial syndrome (OMIM number, 192430) and constitute the most common microdeletion disorder in humans, with an estimated prevalence of 1…

Case 4-2017: A 2-Month-Old Girl with Growth Retardation and Respiratory Failure
01/01/70 - Presentation of Case. Dr. Megan P. Lambert (Pediatrics): A 2-month-old girl was admitted to the pediatric intensive care unit (ICU) of this hospital because of respiratory failure, growth retardation, and failure to thrive. The patient was born by vaginal delivery to a primigravida mother at…

Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation
01/01/70 - The myelodysplastic syndrome (MDS) is clinically and biologically heterogeneous. In children and young adults, MDS can arise in the context of congenital mutations that cause bone marrow failure syndromes or inherited predisposition to myeloid cancers. Therapy-related MDS develops as a late…

Drug-Development Challenges for Small Biopharmaceutical Companies
01/01/70 - Small biopharmaceutical companies are becoming increasingly important as drivers of innovation in drug development. It has recently been estimated that the majority of drugs currently in development are in the hands of small biopharmaceutical companies. Such companies range in size from virtual…

The Antigenicity of the Tumor Cell ? Context Matters
01/01/70 - Although tumors with a high mutational load have been associated with a dismal prognosis, in this era of immunotherapy, mutations may provide a target for cancer-specific cytotoxic treatment and may become beneficial. Next-generation sequencing of hundreds of tumor types has revealed that many more…

Antibodies to Mycobacterium tuberculosis
01/01/70 - Antibodies are time-honored reagents in the diagnosis, prevention, and treatment of infectious diseases. Depending on the disease in question, the presence of antibody in serum can be correlated with infection, immunity, or progression of disease. For example, the presence of antibody to hepatitis…

TARGT Gene Therapy Platform for Correction of Anemia in End-Stage Renal Disease
01/01/70 - To the Editor: Anemia in patients with end-stage renal disease who are undergoing hemodialysis is caused, in part, by a reduction in or absence of secretion of endogenous erythropoietin. Recombinant human erythropoietin given intravenously has been associated with an increased risk of…

The 21st Century Cures Act ? A View from the NIH
01/01/70 - The Cures Act, formally known as H.R. 34 or the 21st Century Cures Act, passed overwhelmingly in the U.S. House of Representatives and Senate in the waning days of the 114th Congress and was signed into law by President Barack Obama on December 13, 2016. Weighing in at nearly 1000 pages, this…

Improving the Accuracy of Prenatal Screening with DNA Copy-Number Analysis
01/01/70 - To the Editor: Despite reported specificities of more than 98% for noninvasive prenatal screening with the use of cell-free DNA obtained from maternal blood, the published positive predictive values for trisomies 21, 18, and 13 are 93%, 64%, and 44%, respectively. The apparent discrepancy between…

Mitochondrial Donation ? Clearing the Final Regulatory Hurdle in the United Kingdom
01/01/70 - On December 15, 2016, the Human Fertilisation and Embryology Authority in the United Kingdom approved the use ? in certain, specific cases ? of a technique that is based on in vitro fertilization (IVF) and involves mitochondrial donation. Its Science Review Panel stated that "it is appropriate to…

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