Results 31 to 40 of about 10,312 (172)

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Experiences of symptom burden among young children born with esophageal atresia–tracheoesophageal fistula: a US focus group study

Orphanet Journal of Rare Diseases
Background Children born with esophageal atresia–tracheoesophageal fistula (EA–TEF) can suffer from aerodigestive morbidity that impairs their quality of life and can persist into adulthood.
Michaela Dellenmark-Blom, John Bennett, Rosella Micalizzi, Lianne Cole, Kaylee Woods, Lauren Cardoni, Leah Frain, Abdimajid Mohamed, Jessica Yasuda, Peter Ngo, Anke Widenmann, Graham Slater, Benjamin Zendejas   +12 more
doaj   +1 more source

Successful staged management of long gap esophageal atresia

Journal of Pediatric Surgery Case Reports, 2022
Esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) is the most common congenital anomaly of the esophagus.There is little consensus on the definition of long gap esophageal atresia (LGEA).
N.F. Tepeneu, K. Krafka, M. Bogovic, J. Weber-Eibel, K.A. Hausegger, T.C. Pranzl, D. Penicka, G. Fasching   +7 more
doaj   +1 more source

Generation of three induced pluripotent stem cells lines from patients with esophageal atresia/tracheoesophageal fistula type C

Stem Cell Research, 2022
Esophageal atresia/tracheoesophageal fistula (EA/TEF) is the most common congenital anomaly of the upper gastrointestinal tract affecting 1 in 3,000 which could stem from a developmental anomaly of the foregut. The cause is not fully understood.
Suleen Raad, Anu David, Wendy Chung, Christophe Faure   +3 more
doaj   +1 more source

Double Bubble Sign in Early Pregnancy: A Case Report of the Sign of Double Trouble

Journal of Medical Ultrasound
A fetal double bubble sign in early pregnancy should prompt the sonographer to consider the concomitant presence of duodenal atresia and esophageal atresia.
Priyanka Karine, Michael Krivanek, Roshini Nayyar, James Christie, Kate Landau, Maria-Elisabeth Smet   +5 more
doaj   +1 more source

Peculiarities of surgical treatment of gastrointestinal tract combined congenital malformations in newborns

Zaporožskij Medicinskij Žurnal, 2017
Congenital gastrointestinal (GI) malformations make up 21–25 % of all congenital anomalies and require surgical correction in the neonatal period. The aim was to analyze the methods of operative treatment of hard composite congenital gastrointestinal ...
М. О. Makarova
doaj   +1 more source

Case Report: Congenital diaphragmatic hernia associated with esophageal atresia and tracheoesophageal fistula

Frontiers in Surgery, 2023
The coexistence of congenital diaphragmatic hernia and esophageal atresia with or without tracheoesophageal fistula is extremely rare; only 36 cases have been reported.
Feihong Zhang, Feihong Zhang, Yang Wu, Li Zhang, Li Zhang, Bin Xia, Bin Xia   +6 more
doaj   +1 more source

Esophageal atresia associating gastrointestinal malformations: a study of clinical approach

Journal of Mind and Medical Sciences, 2021
Digestive tract malformations requiring surgical repair in association with esophageal atresia are rare occurrences. Because of this uncommon presentation of esophageal atresia, its evaluation and management are often difficult, requiring extensive ...
Dan Alexandru Iozsa, Andreea Cristina Costea, Nicolae Sebastian Ionescu   +2 more
doaj   +1 more source

Development and validation of the new French ORALQUEST scale for evaluating feeding difficulties in young children

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objective Feeding difficulties are common in children with and without somatic conditions. Our objective was to develop a parent‐report questionnaire (ORALQUEST) designed to be administered by a professional and to assess feeding difficulties in children aged 9 months to 6 years. Methods The questionnaire explores four domains: eating behavior,
Béatrice Thouvenin, Redha Ould‐Ammar, Lisa Ouss, Pascale Gavelle, Giulia Disnan, Aurélie Royer, Nancy Vegas, Catherine du Fraysseix, Pauline Adnot, Valeria Barbieri, Christine Hassler, Caroline Elie, Caroline Barry, Véronique Abadie   +13 more
wiley   +1 more source

Dietary management and feeding considerations of pediatric aerodigestive and upper gastrointestinal motility disorders: A position paper by the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) Neurogastroenterology and Motility Committee

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objective Pediatric aerodigestive and upper gastrointestinal (UGI) motility disorders are common and may be associated with compromised nutritional status and decreased quality of life. Traditional dietary recommendations for aerodigestive and UGI motility disorders have been rudimentary and largely based upon experience and common sense ...
Khalil El‐Chammas, Kirsten B. Jones, Joan Arvedson, Mary Boruta, Erick Toro‐Monjaraz, Anita Sicolo, Anil Darbari, Rachel Rosen, Julie Khlevner   +8 more
wiley   +1 more source