Results 51 to 60 of about 59,833 (291)

A rare presentation of the Klinefelter's syndrome [PDF]

open access: yes, 2003
A 16 years old boy with Chronic Renal Failure (CRF) was not suspected of having Klinefelter's syndrome until he complained of painful gynecomastia. He was under haemodialysis for 2 years. At first, he was in an approximately full pubertal development (P5,
A. Frank   +23 more
core   +2 more sources

Association between congenital defects in papillary outgrowth and functional obstruction in Crim1 mutant mice [PDF]

open access: yes, 2012
Crim1 hypomorphic (Crim1(KST264/KST264)) mice display progressive renal disease characterized by glomerular defects, leaky peritubular vasculature, and progressive interstitial fibrosis.
Abraham   +40 more
core   +1 more source

Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo‐obstruction: A case series

open access: yesJournal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Pediatric intestinal pseudo‐obstruction (PIPO) is a severe bowel motility disorder characterized by impaired propulsion of gastrointestinal contents without mechanical obstruction. PIPO encompasses congenital and acquired disorders, including neuropathies, myopathies, and mesenchymopathies.
Sharon Wolfson   +8 more
wiley   +1 more source

Save the Bladder: Continent Urinary Diversion as Best Practice for Patients With Refractory Neurogenic Lower Urinary Tract Dysfunction

open access: yesNeurourology and Urodynamics, EarlyView.
ABSTRACT Introduction Refractory neurogenic lower urinary tract dysfunction presents an obstinate clinical problem. For patients who fail nonsurgical measures, we advocate for bladder‐sparing, continent urinary diversion as the optimal approach to management.
Brian W. Chao, Sean P. Elliott
wiley   +1 more source

Neonatal giant hydronephrosis – a rare case report

open access: yesAfrican Journal of Urology, 2018
Introduction: Pelvi uretric junction obstruction (PUJO) is the most common cause of hydronephrosis in the neonatal period and is also the commonest cause of a palpable abdominal mass in a child. Giant hydronephrosis (GH) in a neonate is rare. Observation:
J.S. Aihole   +3 more
doaj   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

Clinical outcome and follow-up of prenatal hydronephrosis

open access: yesSaudi Journal of Kidney Diseases and Transplantation, 2012
Hydronephrosis is probably the most common congenital abnormality detected prenatally by ultrasonography This study was performed to determine the cause and outcome of prenatal hydronephrosis in our hospital.
Afshin Safaei Asl, Shohreh Maleknejad
doaj   +1 more source

Percutaneous Ureteric Stricture Dilation (PCUSD) [PDF]

open access: yes, 1997
Ureteric stricture dilation as an interventional uroradiological technique was initiated locally in March 1991. In ureteric dilation two approaches are feasible.
Cutajar, Lino   +4 more
core  

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei   +9 more
wiley   +1 more source

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