Results 41 to 50 of about 154,128 (161)

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

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

Anatomical and Functional Outcomes of Bladder Exstrophy Patients – A Single-Centre Indonesian Experience [PDF]

Malaysian Orthopaedic Journal
Introduction: Bladder exstrophy is an embryologic malformation characterised by a deficiency of the anterior midline, resulting in urogenital and skeletal complications.
Kurniawan A, Jonathan H, Wikanjaya R, Aryandhani LP   +3 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

Alternative management of bladder exstrophy

, 2009
PURPOSE OF REVIEW: Recent long-time outcome studies of patients with bladder exstrophy treated with primary urinary diversions or primary reconstruction force pediatric urologists to reassess the place of alternative management options in the ...
Gobet, R
core   +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

Management of Azoospermia: A Systematic Approach

The Obstetrician &Gynaecologist, Volume 28, Issue 3, Page 155-167, July 2026.
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

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

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

One - staged reconstruction of bladder exstrophy in male patients: long - term follow-up outcomes

International Brazilian Journal of Urology
Introduction The surgical correction of bladder exstrophy remains challenging. In our institution, the repair has evolved from a staged repair to one-stage reconstruction.
Amilcar Martins Giron, Marcos Figueiredo Mello, Paulo Afonso Carvalho, Paulo Renato Marcelo Moscardi, Roberto Iglesias Lopes, Miguel Srougi   +5 more
doaj   +1 more source