Results 51 to 60 of about 18,119 (214)

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

Growth and development after oesophageal atresia surgery: Need for long-term multidisciplinary follow-up [PDF]

, 2015
Survival rates in oesophageal atresia patients have reached over 90%. In long-term follow-up studies the focus has shifted from purely surgical or gastrointestinal evaluation to a multidisciplinary approach.
Cammen-van Zijp, M.H.M. (Monique) van der, Duyster-Toussaint, L.C.C. (Leontien), Gischler, S.J. (Saskia), IJsselstijn, H. (Hanneke), Spoel, M. (Marjolein), Tibboel, D. (Dick)   +5 more
core   +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, EarlyView.
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

Navigating global collaboration: challenges faced by the international network on esophageal atresia

Orphanet Journal of Rare Diseases
The International Network on Esophageal Atresia (INoEA) stands as a beacon of collaboration in addressing the complexities of this congenital condition on a global scale.
Frédéric Gottrand, Usha Krishnan, Anke Widenmann, Michaela Dellenmark Blom, Luigi Dall’Oglio, Rene Wijnen, Michiel van Wijk, JoAnne Fruithof, Daniel von Allmen, Tom Kovesi, Christophe Faure   +10 more
doaj   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Dilations of anastomotic strictures over time after repair of esophageal atresia [PDF]

, 2016
Aim of the study: Anastomotic strictures commonly occur in patients undergoing surgery for esophageal atresia (EA). The primary aim of this study was to determine the age distribution of dilation procedures for anastomotic strictures over the patient’s ...
Anna Börjesson, Einar Arnbjörnsson, Magnus Anderberg, Pernilla Stenström   +3 more
core   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Intramural Injection with Botulinum Toxin Type A in Piglet Esophagus. The Influencer on Maximum Load and Elongation:A Dose Response Study [PDF]

, 2016
Introduction The treatment of esophageal atresia (OA) is challenging. The main goal is to achieve primary anastomosis. We have previously demonstrated in a pig model that intramural injection of botulinum toxin type A (BTX-A) resulted in significant ...
Pedersen, Mark Ellebæk, Qvist, Niels, Rasmussen, Lars, Schrøder, Henrik Daa   +3 more
core   +2 more sources

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +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