Results 41 to 50 of about 9,855 (201)

A Rare Case of Partial Anomalous Pulmonary Venous Return (Scimitar Syndrome) with Vaginal Agenesis and a History of Infantile Imperforated Anus

Case Reports in Clinical Practice
Scimitar syndrome is a rare congenital cardiac anomaly characterized by abnormal drainage of the right pulmonary veins into the inferior vena cava (IVC).
Maziar Karamnejad, Mahdis Nazari, Ehsan Parvas, Reza Elahi, Amir Ghaffari Jolfayi, Kyomars Abbasi   +5 more
doaj   +1 more source

Medico-legal evaluation of the gynaecological consultation in cases of annulment presenting to the Ecclesiastical Tribunal of the Roman Curia in Malta [PDF]

, 2013
The Ecclesiastical Tribune of the Roman Curia in Malta appoints gynaecologists as medical experts to certain cases seeking annulment. These cases often essentially revolve around the confirmation or exclusion of virginity but may involve requests for ...
Buttigieg, Gabrielle, Buttigieg, George Gregory   +1 more
core  

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
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

Townes-Brocks syndrome with overlapping features of hemifacial microsomia

Journal of Orofacial Sciences, 2013
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, limb deformity, imperforate anus, and renal malformations.
Yadavalli Guruprasad, Dinesh Singh Chauhan   +1 more
doaj   +1 more source

Clinical and radiological postoperative evaluation of posterior sagittal anorectoplasty in patients with upper and intermediate anorectal malformations [PDF]

, 1997
The PSARP is today the most-used surgical technique for correction of high and intermediary anorectal malformations.There is much controversy in the literature about the post-operative evaluation of these cases.
Lederman, Henrique Manoel, Martins, Jose Luiz, Pinus, José   +2 more
core   +2 more sources

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

Clinical Genetics, EarlyView.
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

A Retrospective Study of High‐Risk Infants: Insights From a Regional Hospital in Victoria, Australia

Journal of Paediatrics and Child Health, Volume 62, Issue 4, Page 572-578, April 2026.
ABSTRACT Aim To determine the magnitude of high‐risk infants cared for at a regional hospital in Victoria, Australia and to identify the resources required to care for them. Methods A retrospective study was conducted between January 2017 and December 2019 in a regional hospital in Victoria, Australia.
Romanie Rodrigo, Reji Thomas, Jennifer You, Shizar Nahidi, Sheikh Arif Maqbool Kozgar   +4 more
wiley   +1 more source

WHERE AND WHY DO WE SELECT THE TYPE AND SITE OF COLOSTOMY IN CHILDREN BELOW TWO YEARS

The Iraqi Journal of Medical Sciences, 2016
Background:Alexis Litter (1710) may be called the father of colostomy, when he made an incision in the belly and opened the ends of closed bowel to the belly surface where it never closed and preformed the function of anus for an infant suffered from ...
Salah S. Mahmood, Raghad J. Abolhab, Mohamed J. Mohamed   +2 more
doaj   +4 more sources

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

Associated malformations in newborns with imperforate anus in Gorgan, Iran (2006-10)

مجله دانشگاه علوم پزشکی گرگان, 2014
Background and Objective: Imperforate anus is a common anorectal malformation, which is associated with other anomalies. This study was done to determine the associated malformations in newborns with imperforate anus in northern Iran.
Mirfazeli A, Mohammadipour A, Baghaeian A, Sanagoo A, Nomali M   +4 more
doaj