Results 41 to 50 of about 2,306 (155)
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 +7 more
wiley +1 more source
The genomic architecture of bladder exstrophy epispadias complex [PDF]
, 2021 The bladder exstrophy–epispadias complex (BEEC) is an abdominal midline malformation comprising a spectrum of congenital genitourinary abnormalities of the abdominal wall, pelvis, urinary tract, genitalia, anus, and spine. The vast majority of BEEC cases
David Keene +9 more
core +1 more source
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 +4 more
wiley +1 more source
Murine expression and mutation analyses of the prostate androgen-regulated mucin-like protein 1 (Parm1) gene, a candidate for human epispadias. [PDF]
, 2012 Background Epispadias is the mildest phenotype of the human bladder exstrophy–epispadias complex (BEEC), and presents with varying degrees of severity.
Draaken, Markus +21 more
core +1 more source
Urothelial Differences in the Exstrophy-Epispadias Complex: Potential Implications for Management.
, 2021 PURPOSE: The authors examined the urothelium of exstrophy-epispadias complex spectrum patients for histological differences and expression of terminal markers of urothelial differentiation.
Jayman, John +8 more
core +1 more source
Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network
Paediatric and Perinatal Epidemiology, Volume 40, Issue 3, Page 414-425, March 2026.ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman +23 more
wiley +1 more source
Contemporary Outcomes of Neonatal Exomphalos: A 12‐Year Single‐Centre Experience
Pediatrics International, Volume 68, Issue 1, January/December 2026.ABSTRACT Aim Exomphalos is a congenital abdominal wall defect associated with significant neonatal morbidity and mortality. Contemporary UK outcome data remain sparse. This study describes outcomes, anomalies, and management strategies for live‐born infants with exomphalos over a 12‐year period at a UK tertiary neonatal surgical centre.
Agana Gnanakuruparan +2 more
wiley +1 more source
Neurourology and Urodynamics, Volume 44, Issue 5, Page 1126-1133, June 2025.ABSTRACT Purpose Artificial urinary sphincter (AUS) AMS 800 has been used for many years in women in Europe for the treatment of stress urinary incontinence. However, there is a lack of studies evaluating its impact on women's sexual function. This study aimed to assess impacts of AUS implantation on women's sexual activity.
Anne Denormandie +5 more
wiley +1 more source
EPISPADIAS OF THE URETHRA : REPORT OF TWO CASES [PDF]
, 1972 Two cases of epispadias of the urethra were reported. A 16-year-old girl was seen with partial defect of the anterior wall of urethra accompanied with anomalous location of the umbilicus, separated clitoris and diastasis of the symphysis pUbis. A 22-year-
仁平, 寛巳 +3 more
core
Long‐term urinary outcomes in classic bladder exstrophy: results of an extensive follow‐up
BJU International, Volume 135, Issue 6, Page 1018-1024, June 2025.Objectives To evaluate long‐term outcomes and predictive factors of urinary continence (UC) and fecal continence (FC) after surgery for classic bladder exstrophy (CBE) using validated questionnaires. Patients and Methods This study is part of the QUALEXSTRO study, a retrospective, observational, single‐centre cohort study assessing through ...
Sarah Abdellaoui +7 more
wiley +1 more source