Results 61 to 70 of about 20,626 (220)

A Potential Pathogenic SRD5A2 Mutation and rs632148, rs523349 and rs522638 Polymorphisms in Increasing the Risk of Syndromic Hypospadias in Indonesian Population

Indonesian Biomedical Journal
BACKGROUND: Hypospadias, a congenital birth defect in male, is the opening of the urethra located on the ventral side of the penis. Several mutations in SRD5A2 encoding steroid 5 alpha-reductase type 2 protein have been identified in hypospadias and ...
Rizki Diposarosa, Yunisa Pamela, Herry Herman, Yunia Sribudiani   +3 more
doaj   +1 more source

Acute postoperative complications of hypospadias repair

Indian Journal of Urology, 2008
Purpose: Complications in hypospadias surgery are higher than other reconstructive procedures. The incidence of complications can be reduced if proper preventive measures are taken. The review aims to highlight incidences, causes, and preventive measures
Amilal Bhat, Arup Kumar Mandal
doaj   +1 more source

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

Clinical Genetics, Volume 108, Issue 5, Page 589-593, November 2025.
We report a 2‐year‐old male with clinical features of Takenouchi‐Kosaki syndrome, bilateral colobomas, and a de novo, likely pathogenic missense variant in CDC42. Supportive evidence includes a Cdc42 conditional knock‐out mouse model with colobomas.
Diana Brightman, Nawaal Shinwari, Aleksey Porollo, Eniolami O. Dosunmu, Ehsan Ullah, Bin Guan, Robert B. Hufnagel, Brian P. Brooks, Delphine Blain, Sabine Fuhrmann, Brittany Simpson, Anne M. Slavotinek   +11 more
wiley   +1 more source

Preoperative Virtual Reality for Pediatric Patients Undergoing General Anesthesia: A Meta‐Analysis of Randomized Controlled Trial

Pediatric Anesthesia, Volume 35, Issue 11, Page 889-903, November 2025.
ABSTRACT Background Pediatric patients undergoing general anesthesia often face stress responses, anesthetic challenges, and delayed recovery. Virtual reality has emerged as a promising non‐pharmacological intervention, though its effectiveness varies across studies. This meta‐analysis evaluates the effects of preoperative virtual reality interventions
Difang Zhao, Ting Tian, Shuguang Jin
wiley   +1 more source

Long-term outcomes of pediatric hypospadias and surgical intervention

Pediatric Health, Medicine and Therapeutics, 2012
Gunter De Win,1,2 Peter Cuckow,3 Piet Hoebeke,4 Dan Wood21Adolescent and Pediatric Urology, University Hospital, Antwerp, Belgium; 2Adolescent Urology, University College London Hospitals, UK; 3Pediatric Urology, Great Ormond Street Hospital for Sick ...
De Win G, Cuckow P, Hoebeke P, Wood D
doaj  

Identification of gene variants in 130 Han Chinese patients with hypospadias by targeted next‐generation sequencing

Molecular Genetics & Genomic Medicine, 2019
Background Hypospadias is a common congenital malformation of male external genitalia, which mainly manifests as an abnormal urethral opening on the ventral side of the penis.
Wanyu Zhang, Jinxiu Shi, Chenhui Zhang, Xincheng Jiang, Junqi Wang, Wei Wang, Defen Wang, Jihong Ni, Lifen Chen, Wenli Lu, Yuan Xiao, Weijing Ye, Zhiya Dong   +12 more
doaj   +1 more source

Complications of hypospadias surgery: Experience in a tertiary hospital of a developing country

African Journal of Paediatric Surgery, 2015
Background: Over 300 different operations have been described for the management of hypospadias. In recent times, the numbers of operations used in various centres have gradually reduced as the principles necessary to ensure adequate cosmetic and ...
William Appeadu-Mensah, Afua Adwo Jectey Hesse, Hope Glover-Addy, Samuel Osei-Nketiah, Victor Etwire, Pokua Ama Sarpong   +5 more
doaj   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Penile Curvature Incidence in Hypospadias: Can It Be Determined?

Advances in Urology, 2011
The aim was to retrospectively determine the real incidence of congenital penile curvature in various forms of hypospadias, in order to indicate intraoperative assessment and correction of curvature.
Borko Stojanovic, Marta Bizic, Marko Majstorovic, Vladimir Kojovic, Miroslav Djordjevic   +4 more
doaj   +1 more source