Results 141 to 150 of about 43,622 (268)

Low Risk for Urinary Tract Infection After Voiding Cystography in Children Without Dilated Vesikoureteral Reflux

Acta Paediatrica, Volume 115, Issue 4, Page 972-977, April 2026.
ABSTRACT Aim Urinary tract infection (UTI) is the most common and significant complication after voiding cystourethrography (VCUG) but the reported incidence in children varies highly. Therefore, the aim of this study was to evaluate the rate and possible risk factors for UTIs after VCUG. Method A multicentre retrospective cohort study of children < 15 
Emelie Widhe, Mette Hambraeus, Erik Hedström, Anna Börjesson, Martin Salö   +4 more
wiley   +1 more source

Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4‐Related Dysplasia

Clinical Genetics, Volume 109, Issue 4, Page 796-802, April 2026.
Exploring the genotype and phenotype diversity in a Chinese cohort with TRPV4‐related dysplasia. ABSTRACT Dominant mutations in the calcium permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically result in skeletal dysplasia or peripheral neuromuscular disease.
Lina Dong, Kwan Chun Ho, Zhijia Tan, Yanni He, Yapeng Zhou, Shijie Yin, Lin Feng, Janus Siu Him Wong, Michael Kai Tsun To   +8 more
wiley   +1 more source

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

Pattern and Clinical Significance of CA19‐9 Expression in Human Cancer: A Tissue Microarray Study on 14,966 Tumors

Cancer Medicine, Volume 15, Issue 3, March 2026.
ABSTRACT Background Carbohydrate antigen 19–9 (CA19‐9) is a cell surface glycoprotein widely used as a diagnostic and prognostic serum marker for monitoring pancreatic cancer. The aim of this study was to evaluate the prevalence and clinical relevance of CA19‐9 expression in human cancer. Methods To comprehensively determine the prevalence and clinical
Nina Schraps, Anne Menz, Florian Viehweger, Seyma Büyücek, David Dum, Ria Schlichter, Andrea Hinsch, Christoph Fraune, Christian Bernreuther, Martina Kluth, Claudia Hube‐Magg, Katharina Möller, Viktor Reiswich, Andreas M. Luebke, Patrick Lebok, Sören Weidemann, Guido Sauter, Maximilian Lennartz, Frank Jacobsen, Till S. Clauditz, Andreas H. Marx, Ronald Simon, Stefan Steurer, Baris Mercanoglu, Nathaniel Melling, Thilo Hackert, Eike Burandt, Natalia Gorbokon, Sarah Minner, Till Krech, Florian Lutz, Morton Freytag   +31 more
wiley   +1 more source

A Sporadic Juvenile Gastric Polyp: An Endoscopic Rarity

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT There are several types of gastric polyps and juvenile gastric polyps are scarce. They can be asymptomatic or can contribute to iron deficiency anemia. Can be sporadic or part of syndromic diagnosis. It's crucial to differentiate from other gastric polyps, as juvenile gastric polyps are rare with clinical implications.
Nisar Amin, Abdullahi Sulaiman, Ebubekir Daglilar, Harleen K. Chela   +3 more
wiley   +1 more source

Breathless and Beyond: Anterior Mediastinal Malignant Peripheral Nerve Sheath Tumor as a Rare Neurofibromatosis Type 1 Manifestation

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Malignant peripheral nerve sheath tumors (MPNSTs) can rarely present as anterior mediastinal masses in patients with neurofibromatosis type 1 (NF1), causing respiratory symptoms and diagnostic challenges. Multidisciplinary evaluation, including biopsy and imaging, is essential for diagnosis, with surgical resection as the primary treatment ...
Muhammad Hassan Raza, Hamza Asif, Sadia Anjum, Zaira Shahid, Moosa Mubarika, Abdulsattar Anjum, Hassan Abdullah Shakeel, Rejina Chhetri, Muneeb Khawar   +8 more
wiley   +1 more source

Prenatal Diagnosis of Renal Anomalies Associated With a Novel Causative Variant in RAP1B Gene

Clinical Case Reports, Volume 14, Issue 3, March 2026.
A case of prenatal renal cystic disease and unilateral renal agenesis is reported. Molecular investigations including TRIO next‐generation sequencing analysis using the Clinical exome sequencing protocol identified the c.179G>T, p.(Gly60Val) “de novo” variant in a heterozygous state in the RAP1B gene.
Adalgisa Cordisco, Stefania Magliulo, Chiara Di Marco, Elisa Fortuna, Alessandra Terracciano, Claudio Meloni   +5 more
wiley   +1 more source

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, Volume 255, Issue 3, Page 228-245, March 2026.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

Intermediate-term hip survivorship and patient-reported outcomes of periacetabular osteotomy: The Washington University Experience [PDF]

, 2018
Clohisy, John C, Duncan, Stephen, Goss, Charles W, Schoenecker, Perry, Thomason, Kayla, Wells, Joel   +5 more
core   +1 more source