Results 31 to 40 of about 2,270 (192)

Urethral duplication in male epispadias: a very uncommon association

, 2020
BACKGROUND: Urethral duplication associated with epispadias is a rare malformation. Few cases are described in Literature. We report the experience of two centers to add to the literature.METHODS: A retrospective study was conducted in two Italian ...
Caione, Paolo, Pellegrino, Chiara, Molinaro, Francesco, Scuglia, Marianna, Gerocarni Nappo, Simona, Messina, Mario, Angotti, Rossella   +6 more
core   +1 more source

Bladder exstrophy in adulthood

Indian Journal of Urology, 2008
Background: We report our experience with the treatment of classic exstrophy of the bladder in a small series of seven adult males. There are very few documented cases of adults presenting with exstrophy of bladder in literature.
R B Nerli, G V Kamat, S S Alur, Ashish Koura, Vikram Prabha, S S Amarkhed   +5 more
doaj   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, Volume 19, Issue 7, Page 1134-1156, July 2026.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR ‐Gene Family

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1286-1305, June 2026.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

Sexual function and fertility issues in cases of exstrophy epispadias complex

Indian Journal of Urology, 2010
In patients with EEC, the issues such as sexuality, sexual function and fertility gain more importance once theses patients advance from puberty to adulthood. The aim of this review is to critically examine the available evidence on these issues.
M S Ansari, R M Cervellione, J P Gearhart   +2 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

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
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, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Female Epispadias Presenting as Urinary Incontinence

, 2017
Isolated female epispadias without bladder exstrophy is a rare congenital anomaly affecting 1 in 484,000 females. The presenting features of female epispadias are urinary incontinence and abnormal anatomical features.
Kenan Karavdić, Emir Milišić, Asmir Jonuzi, Zlatan Zvizdić, Paddy Dewan, Nusret Popović   +5 more
core   +1 more source

Unusual morphology of isolated male epispadia: A rare case report

Urology Case Reports
In less than 10% of cases, males may have isolated epispadias, which is caused by failure in the urethral tubularization process, leading to dorsal urethral defect.
Kevin Anthony Glorius Tampubolon, Jupiter Sibarani   +1 more
doaj   +1 more source

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