Non-Syndromic Congenital Sodium Diarrhoea With a SLC9A3 Gene Variant: A Case Report
J Paediatr Child Health. 2025 Apr 23. doi: 10.1111/jpc.70067. Online ahead of print. NO ABSTRACT PMID:40265303 | DOI:10.1111/jpc.70067
Month: April 2025
Evaluation of Tricaine Methanesulfonate Concentrations for Flow Anesthesia in Zebrafish (Danio rerio)
Zebrafish. 2025 Apr 23. doi: 10.1089/zeb.2025.0005. Online ahead of print. ABSTRACT Zebrafish (Danio rerio) are often anesthetized by immersion in buffered tricaine methanesulfonate (MS-222). Although …
Phenotypic Diversity Caused by the DES Missense Mutation p.R127P (c.380G>C) Contributing to Significant Cardiac Mortality and Morbidity Associated With a Desmin Filament Assembly Defect
Circ Genom Precis Med. 2025 Apr 23:e004896. doi: 10.1161/CIRCGEN.124.004896. Online ahead of print. ABSTRACT BACKGROUND: Nonischemic cardiomyopathies are frequently caused by genetic mutations in about …
MicroRNA-210 Mediates Hypoxic Pulmonary Hypertension in the Newborn Lamb
Hypertension. 2025 Apr 23. doi: 10.1161/HYPERTENSIONAHA.124.23061. Online ahead of print. ABSTRACT BACKGROUND: Pulmonary hypertension of the newborn is a life-threatening disorder characterized by elevated pulmonary …
Kidney replacement therapy during extracorporeal membrane oxygenation: pathophysiology, technical considerations, and outcomes
Ren Fail. 2025 Dec;47(1):2486557. doi: 10.1080/0886022X.2025.2486557. Epub 2025 Apr 23. ABSTRACT The use of extracorporeal membrane oxygenation has been increasing over time, in part due …
Phosphatidic acid phosphatase LPIN1 in phospholipid metabolism and stemness in hematopoiesis and AML
Hemasphere. 2025 Apr 22;9(4):e70118. doi: 10.1002/hem3.70118. eCollection 2025 Apr. ABSTRACT Targeting metabolism represents a promising approach to eradicate leukemic stem cells (LSCs) that are considered …
Attitude, Knowledge, and Willingness to Donate Blood Among Health Professional Students in Northern Uganda
J Blood Med. 2025 Apr 17;16:187-195. doi: 10.2147/JBM.S521698. eCollection 2025. ABSTRACT PURPOSE: Blood transfusion is an essential component of healthcare systems, and blood donors play …
Characterizing caregivers of youth at risk for substance use and caregiver engagement in the youth legal system: a mixed methods approach
Front Health Serv. 2025 Apr 8;5:1455111. doi: 10.3389/frhs.2025.1455111. eCollection 2025. ABSTRACT BACKGROUND: Increasing caregiver and family participation is a key feature underlying many strategies to …
Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency
Hum Mutat. 2025 Apr 15;2025:1725906. doi: 10.1155/humu/1725906. eCollection 2025. ABSTRACT Common variable immunodeficiency (CVID) is the most frequent symptomatic inborn error of immunity (IEI). CVID …
A case of acute macular neuroretinopathy in a pediatric patient with optic neuritis
Am J Ophthalmol Case Rep. 2025 Apr 10;38:102332. doi: 10.1016/j.ajoc.2025.102332. eCollection 2025 Jun. ABSTRACT INTRODUCTION: Acute macular neuroretinopathy (AMN) is a retinal disorder caused by …