Results 31 to 40 of about 2,592 (179)

Lifetime congenital urologic care: centering patient voices

Journal of Patient-Reported Outcomes
Background Adults with congenital urologic conditions, such as bladder exstrophy and vesicoureteral reflux, often require lifelong care that begins with childhood surgical reconstructions and extends through adolescence and adulthood with ongoing ...
Xinyuan Zhang, Annaliese C. Ionson, Ashley C. Groth, Kimberly A. Allen, Riley Adams, Thomas Vincent, Liz Sage, Molly DeWitt-Foy, Daniel Wood, Judith C. Hagedorn, Hadley M. Wood, Lindsay A. Hampson   +11 more
doaj   +1 more source

Bladder exstrophy associated with complete urethral duplication: Bladder can be augmented with dorsal urethral mucosa

African Journal of Urology, 2013
Bladder exstrophy associated with complete urethral duplication is very rare with only 8 reported cases in the English literature. This is a report of a16 years old boy who had originally been diagnosed with only bladder exstrophy but was discovered to ...
J.E. Mensah, K.N. Ampadu, M.Y. Kyei, B. Edusie   +3 more
doaj   +1 more source

Transition of Care From Pediatric to Adult Services for Patients With Anorectal Malformations: A Qualitative Study

World Journal of Surgery, EarlyView.
Little is known about how patients with anorectal malformations (ARMs), their caregivers and healthcare providers perceive and experience transition from pediatric to adult care (transition of care) in low‐ and middle‐income countries. This study aimed to explore the perceptions and experiences of young adults, adolescents, their caregivers, and ...
Leila Hartford, Niveshni Maistry, Giulia Brisighelli, Juan Scribante   +3 more
wiley   +1 more source

A case report of single umbilical artery combined with fetal bladder exstrophy in singleton pregnancy and related literature review

BMC Pregnancy and Childbirth
Background According to prenatal ultrasonographic studies, single umbilical artery may be present alone or in association with other fetal abnormalities. So far, the exact pathogenesis of bladder exstrophy is unclear.
Jun Zhan, Fenglin Jia, Qianqian Gao, Xue Xiao   +3 more
doaj   +1 more source

Repair of Vesicocutaneous and Urethrocutaneous Fistulae with Rectus Muscle Flap in a Bladder Exstrophy Patient

Urology Case Reports, 2017
Urinary continence can be achieved in up to 90% of patients with bladder exstrophy. However, select patients remain incontinent despite modern reconstruction. Repeat operations for continence combined with the congenital pelvic abnormalities of exstrophy
Daniel A. Friedlander, Kathy M. Lue, Jason E. Michaud, John P. Gearhart, Richard J. Redett, Heather N. Di Carlo   +5 more
doaj   +1 more source

Management of Azoospermia: A Systematic Approach

The Obstetrician &Gynaecologist, EarlyView.
ABSTRACT Key Content Work‐up of azoospermic men includes a detailed history, physical examination and investigations to find the underlying cause. Causes and management of azoospermia (pre‐testicular, testicular and post‐testicular) with case presentations.
Naimah Raza, Alex Grammatis, Philippa Sangster, Jackson Kirkman‐Brown   +3 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +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