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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 Pediatrics
The New England Journal of Medicine (NEJM) RSS feed -- Search Results in Pediatrics. 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.

Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia
01/01/70 - During embryonic development, tissues and organs form in spatiotemporally defined successions of events until the organism has acquired its final shape. Many of these events, such as limb morphogenesis or the formation of sweat glands and other skin appendages, can be irreversibly affected if…

The Long Ride Home
01/01/70 - The loud, unwieldy bipap machine seemed to smother Hannah as she was wheeled out of the pediatric ICU for the last time. The apparatus thrust air into her leukemia-riddled lungs with such force it was hard to tell whether she had anything to do with the mechanical, rhythmic rise and fall of her…

Azithromycin to Reduce Childhood Mortality in Sub-Saharan Africa
01/01/70 - Trachoma-control programs have distributed more than 600 million doses of oral azithromycin in an effort to eliminate the ocular strains of chlamydia that cause the disease. Azithromycin has been effective against trachoma, although it has caused gastrointestinal side effects and selected for…

In Utero Protein Therapy for an Inherited Developmental Disorder
01/01/70 - Ectodermal dysplasias comprise a heterogeneous group of rare genetic diseases in which two or more derivatives of the embryonic surface ectoderm ? the skin, hair, teeth, nails, or sweat or other cutaneous glands ? fail to develop normally. Hypohidrotic ectodermal dysplasia is the most common type…

Parental Mosaicism in "De Novo" Epileptic Encephalopathies
01/01/70 - 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…

Birth Outcomes for Pregnant Women with HIV Using Tenofovir?Emtricitabine
01/01/70 - The use of three-drug antiretroviral therapy (ART) during pregnancy has reduced the risk of perinatal transmission of human immunodeficiency virus (HIV) to less than 1%, becoming the standard of care in the United States and globally. Although U.S. and World Health Organization (WHO) perinatal…

Study of Intraventricular Cerliponase Alfa for CLN2 Disease
01/01/70 - 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…

Gene Therapy in Patients with Transfusion-Dependent ?-Thalassemia
01/01/70 - The ?-hemoglobinopathies, which include ?-thalassemia and sickle cell disease, are among the most prevalent monogenic disorders worldwide. ?-thalassemia is caused by more than 200 mutations in the HBB globin gene, which encodes the beta subunit of the most common form of adult hemoglobin, HbA.…

Evaluation of Intussusception after Monovalent Rotavirus Vaccination in Africa
01/01/70 - Intussusception is a rare event that occurs when one segment of the bowel telescopes into another, which results in obstruction. A previously licensed rotavirus vaccine (RotaShield, Wyeth-Lederle Laboratories) was found to be associated with intussusception after its introduction in the routine…

Gene Therapy as a Curative Option for ?-Thalassemia
01/01/70 - With an estimated global prevalence of 288,000 cases, ?-thalassemia is one of the most common genetic diseases in the world, and every year another 60,000 infants are born with the disease. Of these patients, 60 to 80% have a severe form of the disease and require regular red-cell transfusions and…

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