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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.

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy
01/01/70 - Adrenoleukodystrophy is an X-linked genetic disease that is caused by a defect in the gene ABCD1 (ATP-binding cassette, subfamily D, member 1), which encodes the peroxisomal ABC half-transporter ALD protein. Mutations in ABCD1 result in abnormal breakdown of very-long-chain fatty acids, a process…

Optimizing Treatment for Cerebral Adrenoleukodystrophy in the Era of Gene Therapy
01/01/70 - Adrenoleukodystrophy is a peroxisomal metabolic disorder that can be manifested by rapidly progressive cerebral demyelination (known as cerebral adrenoleukodystrophy) in affected boys and men. Untreated cerebral adrenoleukodystrophy causes severe disability or death approximately 2 years after its…

Game of TOR ? The Target of Rapamycin Rules Four Kingdoms
01/01/70 - The 2017 Albert Lasker Basic Medical Research Award, announced September 6, recognizes Michael N. Hall of the University of Basel for his discovery of the target of rapamycin (TOR), a nutrient-sensing enzyme that regulates cell and organismal growth in nearly all eukaryotic species. Because of its…

Genetic Associations with Gestational Duration and Spontaneous Preterm Birth
01/01/70 - Preterm birth (defined as birth before 37 completed weeks of gestation) affects 9.6% of pregnancies in the United States and more than 15 million pregnancies worldwide each year. It is the leading cause of death in neonates and children under the age of 5 years. The majority of preterm births arise…

Case 28-2017: A 13-Month-Old Girl with Pneumonia and a 33-Year-Old Woman with Hip Pain
01/01/70 - Presentation of Case. Dr. Virginia M. Pierce: A 13-month-old girl was admitted to this hospital because of pneumonia. Nine days before admission, fever and vomiting developed in the child. The vomiting resolved after 2 days, but fever (with a maximum temperature of 39.7°C) continued, and the child…

Waving Hello to Noninvasive Deep-Brain Stimulation
01/01/70 - Disorders of brain function are leading causes of disease burden. The clinical manifestations of neurologic and psychiatric disorders are often caused by malfunction in circuits in the brain that regulate sensory, motor, cognitive, and behavioral functions. The signs and symptoms of the disorders…

Precision Diagnosis and Treatment for Advanced Non?Small-Cell Lung Cancer
01/01/70 - Lung cancer remains one of the most frequent and most deadly tumor entities, with 1.6 million tumor-related deaths annually worldwide. The correlation between smoking status and mortality from lung cancer has been confirmed, and a decrease in mortality after cessation of tobacco use has been…

Targeting the Colorectal Cancer Stem Cell
01/01/70 - The killing of cancer stem cells is thought to be a critical component of effective antitumor therapies; cancer stem cells are at the apex of a hierarchy that is present in multiple cancer types. In colorectal cancer, it is well accepted that cancer stem cells, which can be isolated from human and…

Anti-CD19 CAR T Cells in CNS Diffuse Large-B-Cell Lymphoma
01/01/70 - To the Editor: We report the case of a 68-year-old woman with refractory diffuse large-B-cell lymphoma (DLBCL), germinal-center subtype, with a BCL2 rearrangement and multiple copies of MYC and BCL6. Her disease was refractory to intensive infusional chemotherapy, dose-adjusted etoposide,…

Inflammatory Bowel Disease and the NLRP3 Inflammasome
01/01/70 - The majority of the immune cells in the body are located in the intestine, where they are spatially separated from more than 10 trillion microorganisms by a layer of mucus and a layer of epithelial cells. Deterioration of this physical barrier ? the result of invading pathogens or an unrestrained…

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