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Case Report: Catastrophic antiphospholipid syndrome in a pediatric patient after percutaneous treatment of aortic re-coarctation.
Front Pediatr
December 2024
Pediatric Rheumatology Department, Hospital Para El Niño Poblano, Puebla, Mexico.
A female patient in middle childhood was diagnosed with coarctation of the aorta at one month of age and underwent a successful cortectomy. At 11 years old, she developed re-coarctation, which was managed through interventional cardiology. Shortly after the procedure, she experienced a sudden and severe clinical decline, presenting with hypoperfusion of the lower extremities, gastrointestinal bleeding, acute kidney injury, and pancreatitis.
View Article and Find Full Text PDFIsolated loss of vaccine immunity in the protein losings syndrome in a patient with a reverse one and a half ventricle palliation ("failing Fontan-like physiology").
Cardiol Young
January 2025
Department of Pediatric Cardiology, Intensive Care Medicine and Congenital Heart Disease, Justus Liebig University, Giessen, Germany.
Background: A subgroup of CHDs can only be treated palliatively through a Fontan circulation. In case of a failing Fontan situation, serum proteins are lost unspecifically and can also lead to a loss of vaccine antibodies. In a failing Fontan situation, heart transplantation may be the only feasible option.
View Article and Find Full Text PDFLethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing.
Clin Genet
January 2025
Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.
SUMOylation involves covalent attachment of small ubiquitin-like modifier (SUMO) proteins to specific lysine residues on target proteins and regulates various aspects of their function. Sentrin-specific proteases (SENPs) are key players in both the conjugation reaction of SUMO proteins to their targets and the subsequent deconjugation of SUMO-conjugated substrates. Here, we provide the first comprehensive prenatal description of a lethal syndrome linked to a novel homozygous stop-gain variant in SENP7 c.
View Article and Find Full Text PDFGeneralized lymphatic anomaly in a pediatric patient manifesting as a rare presentation of hemorrhagic pleural effusion: a case report.
BMC Pediatr
January 2025
Department of Pediatrics, Huazhong University of Science and Technology Union Shenzhen Hospital, Shenzhen, China.
Background: Generalized lymphatic anomaly (GLA) is a rare congenital lymphatic malformation (LM) characterized by multiple infiltrating lymphangiomas in various tissues. Owing to its rarity, information on this disease is obtained mainly through case reports, leading to delayed diagnosis. In this study, we reported a case of generalized lymphatic anomaly in a pediatric patient manifesting as hemorrhagic pleural effusion.
View Article and Find Full Text PDFToxoplasma gondii from Gabonese forest, Central Africa: First report of an African wild strain.
PLoS Negl Trop Dis
January 2025
Inserm U1094, IRD UMR270, Univ. Limoges, CHU Limoges, EpiMaCT - Epidemiology of Chronic Diseases in Tropical Zone, Institute of Epidemiology and Tropical Neurology, OmegaHealth, Limoges, France.
The protozoan Toxoplasma gondii is a ubiquitous and highly prevalent parasite that can theoretically infect all warm-blooded vertebrates. In humans, toxoplasmosis causes infections in both immunodeficient and immunocompetent patients, congenital toxoplasmosis, and ocular lesions. These manifestations have different degrees of severity.
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