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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.

Sociogenetic Risks ? Ancestry DNA Testing, Third-Party Identity, and Protection of Privacy
31/12/69 - The recent capture of the suspected Golden State Killer on "National DNA Day" was a startling public illustration of the reality that DNA information may be pertinent to people far removed from the one who was tested ? and the fact that information may derive from testing that an implicated person…

Infantile Pulmonary Teratoid Tumor
31/12/69 - To the Editor: Pulmonary blastoma, an uncommon lung tumor with both epithelial and mesenchymal components, is typically diagnosed in mid-to-late adulthood. Although it is rare in children, it should be distinguished from pleuropulmonary blastoma, a mesenchymal tumor. Pleuropulmonary blastomas and…

The Microbiome and Systemic Lupus Erythematosus
31/12/69 - How can it be that such a repugnant substance, feces, is also the key to our well-being? Fecal bacteria are essential to life, and humans are not alone in their dependence on the microbial world. The fruit fly requires acetic acid from Acetobacter pomorum. The bobtail squid needs the luminescence…

Adjuvant Chemotherapy Guided by a 21-Gene Expression Assay in Breast Cancer
31/12/69 - Breast cancer is the most common cancer in women in the United States and worldwide. Hormone-receptor?positive, axillary node?negative disease accounts for approximately half of all cases of breast cancer in the United States. Adjuvant chemotherapy reduces the risk of recurrence, with effects that…

The Lymph Node and the Metastasis
31/12/69 - Women with breast cancer who have breast cancer cells in one or more lymph nodes have poorer outcomes than women without node involvement. Although many oncologists believe that this phenomenon is explained by the dissemination of metastatic cells through the lymphatic system, findings reported in…

A Shocking Turn of Events
31/12/69 - A 38-year-old woman presented to her primary care physician in 2010 for evaluation of an upper respiratory infection and shortness of breath. The patient reported having a cough . . .

p53 and Me
31/12/69 - I started medical school in 2010, the year of my genetic crisis. Before moving to Boston to begin classes, I went to the overly air-conditioned basement of a plain building on a swanky block of Manhattan. The physician who ran the center took time to explain, in kind and measured terms, the…

Study of Intraventricular Cerliponase Alfa for CLN2 Disease
31/12/69 - Neuronal ceroid lipofuscinosis type 2 (CLN2) disease, a form of Batten?s disease, is a rare, autosomal recessive, pediatric neurodegenerative disease resulting from pathogenic variants in the gene encoding lysosomal enzyme tripeptidyl peptidase 1 (TPP1). A deficiency of TPP1 results in accumulation…

Tackling Tumors with Small RNAs Derived from Transfer RNA
31/12/69 - Only approximately 1% of the human genome is made up of genes that encode proteins. Our understanding of the rest of our genome is scant: it is ? for the most part ? a world undiscovered. (It is also true that the function of many genes is not understood, even though this minuscule portion of the…

Parental Mosaicism in "De Novo" Epileptic Encephalopathies
31/12/69 - To the Editor: De novo disease-causing variants have been increasingly recognized in apparently sporadic, severe neurologic disorders in children, including developmental and epileptic encephalopathies and autism. Geneticists indicate that the risk of recurrence of these disorders in families with…

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