Results 61 to 70 of about 35,475 (152)

Jejunoileal atresia and cystic fibrosis: don’t miss it

BMC Research Notes, 2012
Background While an increased prevalence of cystic fibrosis (CF) in patients with jejunal atresia and ileal atresia (JIA) has been described previously, it still may not be a practice routine to indicate a sweat test or DNA test for CFTR mutations in ...
Siersma Carolien L, Rottier Bart L, Hulscher Jan BF, Bouman Katelijne, van Stuijvenberg Margriet   +4 more
doaj   +1 more source

Intestinal Atresia in PPP1R12A ‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source

Gastroschisis with jejunal and colonic atresia, and isolated colonic atresia in dichorionic, diamniotic twins

, 2009
Despite the increasing incidence of gastroschisis, the cause remains unknown. Genetic factors may contribute to bowel anomalies as demonstrated by cases of gastroschisis in twins and siblings, and other types of bowel anomalies in twins.
Saxonhouse, Matthew A, Islam, Saleem, Hoover, Roger, Kays, David W, Burchfield, David J   +4 more
core   +1 more source

Total intestinal atresia: Revisiting the pathogenesis of congenital atresias

Journal of Indian Association of Pediatric Surgeons, 2019
Despite various theories to explain the pathogenesis of atresias, the exact mechanism is still controversial. Currently, atresias are believed to result from vascular accidents and less likely due to the failure of recanalization.
Neel Aggerwal, Nidhi Sugandhi, Harshita Kour, Goutam Chakraborty, Samir Kant Acharya, Amit Jadhav, Deepak Bagga   +6 more
doaj   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Pulmonary valvulotomy in a fetus with pulmonary atresia with intact ventricular septum : first experience in Turkey [PDF]

, 2012
The mortality and morbidity of children with pulmonary atresia with intact ventricular septum (PA/IVS) is closely related with right ventricle hypoplasia and its consequent hemodynamics.
Polat, Tugcin Bora, Danısman, N.
core  

Introducing Novel Surgical Clinical Correlations Into an Undergraduate Medical Anatomy Course

Clinical Anatomy, Volume 38, Issue 8, Page 852-860, November 2025.
ABSTRACT Anatomy education is a hallmark of many preclinical medical school curricula, but students are often unable to identify the clinical relevance of anatomy and its applications. Vertical curricula that integrate clinical concepts into the preclinical basic science years and vice versa have been shown to benefit student learning and increase ...
Liam McLoughlin, Theofano Zoumpou, George P. Holan, Bao‐Ngoc Nasri, Daniel B. Jones, Jeremy J. Grachan   +5 more
wiley   +1 more source

Agenesis of the dorsal mesentery presenting in an adolescent

South African Journal of Radiology, 2013
Agenesis of the dorsal mesentery is a rare occurrence that usually presents in children. It is associated with proximal small bowel malrotation as well as high jejunal atresia with discontinuity of the small bowel.
Anith Chacko, Farzanah Ismail, Sirajudeen Ellemdin   +2 more
doaj   +1 more source

Gastrointestinal malrotation and chronic intestinal pseudo‐obstruction in two pediatric patients with Baraitser‐Winter cerebrofrontofacial syndrome

JPGN Reports, Volume 6, Issue 4, Page 394-399, November 2025.
Abstract Baraitser‐Winter cerebrofrontofacial syndrome (BWCFF) is a rare congenital anomaly syndrome that can present with characteristics in multiple organ systems. These can include pachygyria, intellectual disability, seizures, congenital heart defects, renal malformations and gastrointestinal dysfunction.
Veronica Lee, Vikram Raghu, Jeffrey Rudolph, Feras Alissa, Vibha Sood   +4 more
wiley   +1 more source

A case of congenital total intestinal atresia in a neonate: a case report

Journal of Medical Case Reports
Introduction Intestinal atresia is the complete occlusion of the intestinal lumen at various parts of the intestine. It has the potential to cause intestinal failure. Two mechanisms are suggested: failure of recanalization and/or accidental injury.
Hindeya Hailu Hagos, Yemane Leake Gebremichael, Birhanu Kassie Reta, Tiegist Bahta Woldu, Hailemariam Kahsay Kidanu, Gebreyohans Tesfay Kidanu   +5 more
doaj   +1 more source