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

Tezacaftor?Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis
31/12/69 - Cystic fibrosis is a progressive, systemic, life-limiting, autosomal recessive disease that is caused by reduced quantity or function of the cystic fibrosis transmembrane conductance regulator (CFTR) protein due to mutations in the CFTR gene. Loss of chloride transport activity due to defects in…

Tezacaftor?Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del
31/12/69 - Cystic fibrosis is caused by a reduced quantity or function of cystic fibrosis transmembrane conductance regulator (CFTR) protein, owing to mutations in CFTR. A loss of chloride secretion causes impaction of mucus in the airways, gastrointestinal tract, and exocrine organs, with important clinical…

CFTR Modulator Therapy for Cystic Fibrosis
31/12/69 - Cystic fibrosis is a disease of abnormal ion transport through epithelium that results in progressive lung disease as well as the involvement of other organs including the pancreas, gut, and liver. Cystic fibrosis is caused by mutations in the gene encoding the cystic fibrosis transmembrane…

Molluscum Contagiosum in a Patient with Atopic Dermatitis
31/12/69 - Figure 1.

Sudden Cardiac Arrest during Participation in Competitive Sports
31/12/69 - The occurrence of sudden cardiac arrest in young persons during participation in competitive sports is a rare but tragic event. In numerous jurisdictions, preparticipation screening systems have been implemented on the assumption that most cases of sudden cardiac arrest that occur during sports…

The Code, the Cloud, and the Doppler
31/12/69 - Janna insisted that the oscillator made the perfect white noise machine. It was almost loud enough to drown out the heart-rate monitor. Even so, when Kynslee?s heart rate, blood pressure, or oxygen saturation went out of range, a louder alarm would blare and flashing red lights would bring the…

Coronary-Artery Aneurysm in Tocilizumab-Treated Children with Kawasaki?s Disease
31/12/69 - To the Editor: Kawasaki?s disease is the most common systemic vasculitis in children. Coronary-artery aneurysms may develop in 25% of untreated patients. Intravenous immune globulin (IVIG), the cornerstone of therapy, can reduce the risk of coronary-artery aneurysms to 4%. However, among the…

ACE Inhibitors and Statins in Adolescents with Type 1 Diabetes
31/12/69 - Children with type 1 diabetes are at higher risk for long-term renal and cardiovascular disease and death than the general population, and adolescence is a period of risk for the development of complications, since adequate glycemic control is difficult to achieve. Rapid increases in albumin…

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
31/12/69 - Spinal muscular atrophy (SMA) is a severe childhood monogenic disease resulting from loss or dysfunction of the gene encoding survival motor neuron 1 (SMN1). The incidence of this disease is approximately 1 in 10,000 live births, with a carrier frequency of 1 in 54. SMA is characterized by the…

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
31/12/69 - Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that is characterized by progressive muscle atrophy and weakness, with an estimated incidence of 1 in 11,000 live births. Approximately 60% of infants who are born with spinal muscular atrophy have type 1 disease, which is…

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