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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.

Effect of Cannabidiol on Drop Seizures in the Lennox?Gastaut Syndrome
31/12/69 - The Lennox?Gastaut syndrome is a severe developmental epileptic encephalopathy that has multiple causes and an incidence of approximately two cases per 100,000 population. The disorder is characterized by several seizure types, severe cognitive impairment, and an abnormal electroencephalographic…

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…

Maternal Sirolimus Therapy for Fetal Cardiac Rhabdomyomas
31/12/69 - To the Editor: Cardiac rhabdomyoma is the most common fetal cardiac tumor. We report a case of progressively obstructive fetal cardiac rhabdomyomas with regression in utero during treatment of the mother with an oral mechanistic target of rapamycin (mTOR) inhibitor. Cardiac rhabdomyomas were…

Azithromycin to Reduce Childhood Mortality in Sub-Saharan Africa
31/12/69 - 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…

Birth Outcomes for Pregnant Women with HIV Using Tenofovir?Emtricitabine
31/12/69 - 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…

The Long Ride Home
31/12/69 - 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…

Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia
31/12/69 - 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…

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…

In Utero Protein Therapy for an Inherited Developmental Disorder
31/12/69 - 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…

Gene Therapy in Patients with Transfusion-Dependent ?-Thalassemia
31/12/69 - 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.…

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