Results 81 to 90 of about 11,497 (209)

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 733-737, March 2026.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis

Birth Defects Research, Volume 118, Issue 3, March 2026.
ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam, Helen E. Ritchie, Margaret P. Adam, Bengt R. Danielsson   +3 more
wiley   +1 more source

014. Localized Meconium Peritonitis Due to Perforation of Ileum Atresia: Case Report

JBN (Jurnal Bedah Nasional)
Background: Ileal atresia is a congenital disorder that can cause serious complications such as intestinal obstruction, intestinal ischemia, and intestinal rupture.
Gina Amalia, Avriana Pety Wardhani
doaj   +1 more source

Ontogeny of RSPO1, FOXL2, and RUNX1 during ovarian differentiation in the marsupial tammar wallaby

Developmental Dynamics, Volume 255, Issue 3, Page 340-361, March 2026.
Abstract Background RSPO1 and FOXL2 are female sex‐determining genes involved in the differentiation and organization of the ovary in some eutherian mammals. Mutations or loss of function of these genes are associated with partial to full sex reversal in mice, humans, and goats.
Monika R. Paranjpe, Yu Chen, Geoff Shaw, Marilyn B. Renfree   +3 more
wiley   +1 more source

Atresia in the esophagus

Medisur, 2005
Esophageal atresia is the congenital lack of continuity of the esophagus with or without communication to the airway. Incidence is estimateed in 1 by 3000 to 4500 alive newborns. Cases in brothers are found and children of parents with atresia esophagus,
Crisanto Abad Celuria, Abel Santana González-Chávez, Narciso Hernández Rodríguez   +2 more
doaj   +2 more sources

Beyond a Conduit: The Evolution of Functional Biliary Stents From Active Intervention to Enabling Platforms

iNew Medicine, Volume 2, Issue 1, March 2026.
This review traces the evolution of functional biliary stents, outlining the paradigm shift from “active intervention” strategies that target stent failure to next‐generation “enabling platforms.” These platforms leverage biodegradable materials, 3D/4D printing, and smart sensors to achieve personalized, regenerative, and theranostic solutions ...
Muhan Li, Xu Liu, Xin Ye, Zhixia Dong, Xinjian Wan   +4 more
wiley   +1 more source

Nanomotor‐Driven Extracellular Vesicles With Effective Tissue Penetration for Targeted Therapy of Primary Ovarian Insufficiency

Journal of Extracellular Vesicles, Volume 15, Issue 3, March 2026.
ABSTRACT Stem cells and their derived extracellular vesicles (EVs) offer hope for functional reconstruction and fertility in premature ovarian insufficiency (POI) caused by gonadotoxic drugs. However, the clinical application of EVs is impeded by their instability, limited tissue penetration, and lack of targeted delivery to ovarian injury sites. Here,
Yaoqin Mu, Jiachen Wu, Mingwei Lv, Xinyi Zhang, Yinhua Song, Jihui Ai, Ding Ma, Kezhen Li   +7 more
wiley   +1 more source

Biliary atresia

Medisur, 2005
Biliary atresia is an obstructive and progressive process of unknown etiology that affects intra and/or extrahepatics biliary tracts and cause neonatal jaundice by serious obstruction of the biliary flow.
Miurkis Endis Miranda, Ramón Villamil Martínez, Pastor Thomas Olivares   +2 more
doaj   +2 more sources

Human Cyclophilins—An Emerging Class of Drug Targets

Medicinal Research Reviews, Volume 46, Issue 2, Page 475-512, March 2026.
ABSTRACT Cyclophilins are a family of enzymes with peptidyl‐prolyl isomerase activity found in all cells of all organisms. To date, 17 cyclophilin isoforms have been identified in the human body, participating in diverse biological processes. Consequently, cyclophilins have emerged as promising targets for drug development to address a wide array of ...
Katarina Jurkova, Hana Navratilova, Kamil Musilek, Ondrej Benek   +3 more
wiley   +1 more source

Society for Maternal‐Fetal Medicine Consult Series #75: Evaluation and management of non‐immune hydrops fetalis

Pregnancy, Volume 2, Issue 2, March 2026.
Abstract Non‐immune hydrops fetalis (NIHF) can result from a multitude of underlying causes, such as fetal genetic diseases, congenital anomalies, infections, fetal arrhythmias, placental tumors, monochorionic twin complications, and other disorders.
Society for Maternal‐Fetal Medicine (SMFM), Teresa. N. Sparks, Mary. E. Norton, SMFM Publications Committee   +3 more
wiley   +1 more source