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In-Depth Phenotyping of -Related Disease and Its Role in 17q12 Genomic Disorder.
Biomolecules
December 2024
Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", 34137 Trieste, Italy.
Glycosylphosphatidylinositol (GPI) biosynthesis defect 11 (GPIBD11), part of the heterogeneous group of congenital disorders of glycosylation, is caused by biallelic pathogenic variants in . This rare disorder has previously been described in only 12 patients. We report four novel patients: two sib fetuses with congenital anomalies affecting several organs, including the heart; a living girl with tetralogy of Fallot, global developmental delay, behavioral abnormalities, and atypic electroencephalography (EEG) without epilepsy; a girl with early-onset, treatment-resistant seizures, developmental regression, and recurrent infections, that ultimately passed away prematurely due to pneumonia.
View Article and Find Full Text PDFCongenital disorders of glycosylation type 1A associated with cerebral hemorrhagic infarction: illustrative case.
J Neurosurg Case Lessons
January 2025
Department of Neurosurgery, Hirosaki University Graduate School of Medicine, Hirosaki, Aomori, Japan.
Background: Cases of congenital disorders of glycosylation (CDGs) are rare, and the occurrence of hemorrhagic infarction is also rare. The etiology is unclear.
Observations: A 3-year-old Asian boy with CDG type 1A was hospitalized with pneumonia.
Burden of Infections in Early Life and Risk of Infections and Systemic Antibiotics Use in Childhood.
JAMA Netw Open
January 2025
Copenhagen Prospective Studies on Asthma in Childhood, Herlev and Gentofte Hospital, University of Copenhagen, Copenhagen, Denmark.
Importance: A high infection burden in early childhood is common and a risk factor for later disease development. However, longitudinal birth cohort studies investigating early-life infection burden and later risk of infection and antibiotic episodes are lacking.
Objective: To investigate whether early-life infection burden is associated with a later risk of infection and systemic antibiotic treatment episodes in childhood.
An Adult-Onset Chronic Granulomatous Disease Case with Hemophagocytic Lymphohistiocytosis Caused by and Infections.
Infect Dis Clin Microbiol
December 2024
Department of Infectious Diseases and Clinical Microbiology, Hacettepe University School of Medicine, Ankara, Türkiye.
Chronic granulomatous disease (CGD) is a congenital disorder impairing phagocyte function, causing recurrent, life-threatening infections, and is rarely seen in adulthood. We present a 36-year-old male initially diagnosed with pneumonia. Bronchoalveolar lavage and blood cultures yielded complex, sputum cultures .
View Article and Find Full Text PDFShort term outcomes of the first pediatric cardiac surgery program in Rwanda.
J Cardiothorac Surg
December 2024
University Teaching Hospital of Kigali, Kigali, Rwanda.
Background: While the number of cardiac surgery programs in sub-Saharan Africa are increasing, it is still insufficient. With only 0.08 pediatric cardiac surgeons per million people, few cardiac centers routinely perform pediatric cardiac surgery.
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