Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency [PDF]
Connolly, Anne M +4 more
core +2 more sources
Abstract Introduction Community‐acquired pneumonia (CAP) is a frequent and costly cause of pediatric emergency department (ED) visits and hospitalizations. Previous prognostic tools for CAP are limited by small samples, single‐center or retrospective designs, lack of generalizability to ED settings, lack of biomarkers, or limited objective data.
Todd A. Florin +21 more
wiley +1 more source
Cost-effectiveness of newborn screening for severe combined immunodeficiency: a systematic review. [PDF]
Rana R, Afroz Keramat S, Ahmed M.
europepmc +1 more source
Abstract Background Malnutrition is common among patients with decompensated liver cirrhosis and linked to poor prognosis. Guidelines recommend intensified nutrition support e.g. parenteral nutrition, but evidence regarding safety and effectiveness is scarce. We aimed to investigate the impact of nutrition support, specifically parenteral nutrition, on
Katharina L. Hupa‐Breier +10 more
wiley +1 more source
Severe combined immunodeficiency with BCG-osis by salvage therapy with allogeneic hematopoietic stem cell transplantation: cases report and literature review. [PDF]
Jiao Y +9 more
europepmc +1 more source
GLIM criteria for the diagnosis of malnutrition in patients with cirrhosis: A narrative review
Abstract Background This narrative review aims to describe and discuss the validity of the Global Leadership Initiative on Malnutrition (GLIM) criteria in patients with cirrhosis. Methods The literature search was performed in PubMed and EMBASE between May and August 2024 and updated in January 2025, including original studies published in English in ...
Bárbara Chaves Santos +6 more
wiley +1 more source
First case of primary CNS lymphoma in a patient with severe combined immunodeficiency carrying a novel ZAP70 mutation: a case report. [PDF]
Albitar MH +6 more
europepmc +1 more source
Gastric antral vascular ectasia: A rare etiology of gastrointestinal bleeding in children
Abstract Gastrointestinal bleeding is relatively common in children. While most patients present with mild bleeding, gastric antral vascular ectasia (GAVE) is a rare but potentially life‐threatening cause. GAVE is typically associated with chronic conditions and more common in adults.
Omar Alharbi +3 more
wiley +1 more source
Advances and applications of genome-edited animal models for severe combined immunodeficiency. [PDF]
Zheng X, Huang CH, Yan S, Rong MD.
europepmc +1 more source

