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http://dx.doi.org/10.1542/peds.2023-064171 | DOI Listing |
JA Clin Rep
December 2024
Department of Anesthesiology, Niigata University Medical and Dental Hospital, 1-754 Asahimachi-Dori, Chuo-Ku, Niigata, 951-8520, Japan.
Background: Non-ketotic hyperglycinemia (NKH) is a rare autosomal recessive disorder caused by defects in the glycine cleavage system, leading to elevated glycine levels in the central nervous system. NKH manifests in various forms, with the neonatal type being the most severe and often associated with high mortality and significant neurological impairment. This case report highlights the successful uses of desflurane and nitrous oxide for anesthetic management in a patient with NKH.
View Article and Find Full Text PDFJ Family Med Prim Care
November 2024
Department of Pediatrics, PGIMS, Rohtak, Haryana, India.
Cough is a protective reflex that allows clearance of secretions from upper respiratory tract. It is not a disease by itself but a symptom of underlying disease. In a majority of cases, it is self-limiting and requires only supportive care.
View Article and Find Full Text PDFSAGE Open Med Case Rep
December 2024
Department of Pediatrics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, Canada.
Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare systemic necrotizing vasculitis marked by eosinophilia and extravascular granulomas, predominantly affecting the respiratory tract. This report details a unique EGPA case in a 6-year-old girl with extensive cardiac involvement, featuring an atypical intracardiac mass suggestive of endomyocardial fibrosis and a concomitant thrombus. The clinical course unfolded in three phases: an initial prodrome with asthma; subsequent peripheral hypereosinophilia; and ultimately systemic vasculitis.
View Article and Find Full Text PDFFront Immunol
December 2024
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
While Trisomy X syndrome is typically characterized by developmental and cognitive variations, it is not commonly associated with immunodeficiencies. We report the unique case of a 6-year-old girl with Trisomy X presenting with selective IgA deficiency, challenging the conventional understanding of this chromosomal condition. The patient exhibited recurrent respiratory infections and gastrointestinal symptoms, evaluated in the context of her genetic background of Trisomy X and significantly low levels of IgA (0.
View Article and Find Full Text PDFBMC Pediatr
December 2024
Department of Pediatric Respiratory and Immunology Nursing, West China Second University Hospital, Sichuan University, 610041, Chengdu, Sichuan, China.
Background: Mycoplasma pneumoniae (MP) is a common respiratory pathogen in children that can sometimes lead to extrapulmonary manifestations. Among these, pediatric pulmonary thromboembolism (PE) is clinically rare but carries significant implications. However, it is often underrecognized, and its diagnosis and treatment are not well understood.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!