Search results for "Atresia"

Surgical treatment of choanal atresia with transnasal endoscopic approach with stentless single side-hinged flap technique: 5 year retrospective anal…

2017

Introdução: A atresia de coanas é uma malformação congênita rara da cavidade nasal caracterizada pela obliteração completa da coana posterior. Nos 67% dos casos a atresia coanal é unilateral, acometendo principalmente (71%) a cavidade nasal direita. Diferentemente da forma unilateral, a atresia coanal bilateral é uma condição com risco de vida, frequentemente associada a angústia respiratória com alimentação e cianose intermitente exacerbada pelo choro. O tratamento cirúrgico permanece como a única opção terapêutica. Objetivo: Relatar a nossa experiência no uso de uma abordagem endoscópica transnasal com a técnica de retalho articulado de um lado só sem colocação de stent para o tratamento …

Congenital heart defects in newborns with apparently isolated single gastrointestinal malformation: A retrospective study.

2015

Abstract Background Congenital gastrointestinal system malformations/abdominal wall defects (GISM) may appear as isolated defects (single or complex), or in association with multiple malformations. The high incidence of association of GISM and congenital heart defects (CHD) in patients with syndromes and malformative sequences is known, but less expected is the association of apparently isolated single GISM and CHD. The aim of this study was to investigate the frequency of CHD in newborns with isolated GISM, and the possibility to modify the diagnostic-therapeutic approach just before the onset of cardiac symptoms or complications. Methods Anamnestic, clinical, and imaging data of newborns …

HeterozygousFGF8mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies

2014

Background The acronym VATER/VACTERL association describes the combination of at least three of the following cardinal features: vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. Although fibroblast growth factor-8 (FGF8) mutations have mainly found in patients with Kallmann syndrome, mice with a hypomorphic Fgf8 allele or complete gene invalidation display, aside from gonadotropin-releasing hormone deficiency, parts or even the entire spectrum of human VATER/VACTERL association. Methods We performed FGF8 gene analysis in 49 patients with VATER/VACTERL association and 27 patients …

Evaluation of esophageal motility using multichannel intraluminal impedance in healthy children and children with gastroesophageal reflux: comments

2011

Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

2020

Introduction Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among affected newborns suggesting that the steady birth prevalence might in parts be due to mutational de novo events in genes involved in foregut development. Methods To identify mutational de novo events in EA/TEF patients, we surveyed the exome of 30 case-parent trios. Identified and confirmed de novo variants were prioritized using in silico prediction tools. To investigate the embryonic role of genes harboring prioritized de novo variants we perfor…

Surgical treatment of choanal atresia with transnasal endoscopic approach with stentless single side-hinged flap technique: 5 year retrospective anal…

2017

Abstract Introduction: Choanal atresia is a rare congenital malformation of the nasal cavity characterized by the complete obliteration of the posterior choanae. In 67% of cases choanal atresia is unilateral, affecting mainly (71%) the right nasal cavity. In contrast to the unilateral form, bilateral choanal atresia is a life-threatening condition often associated with respiratory distress with feeding and intermittent cyanosis exacerbated by crying. Surgical treatment remains the only therapeutic option. Objective: To report our experience in the use of a transnasal endoscopic approach with stentless single side-hinged flap technique for the surgical management of choanal atresia. Methods:…

Die Vibrant Soundbridge®: Ein alternatives Hörsystem bei Vorschulkindern mit Gehörgangsatresie

2016

Hintergrund: Die Versorgung von Kindern mit Gehorgangsatresie stellt einen hohen Anspruch an Mediziner und Akustiker. Herkommliche Horsysteme werden oft nicht toleriert, womit sie die Forderung nach einer fruhzeitigen und effizienten Versorgung der Horstorung nicht erfullen. Ziel der vorliegenden Studie ist daher die Untersuchung der Versorgungsqualitat von Kindern vor dem 6. Lebensjahr mit dem Mittelohrimplantat VSB® bei uni- bzw. bilateraler Gehorgangsatresie. Material und Methoden: Bei 16 Kindern, 13 mit uni-, 3 mit bilateraler Gehorgangsatresie, implantiert mit einer Vibrant Soundbridge (VSB®) im Alter von durchschnittlich 2;11±1;6 Jahren, wurde 3 Monate nach Erstanpassung des Audioproz…

Clinical Delineation Of A Subtype Of Frontonasal Dysplasia With Creased Nasal Ridge And Upper Limb Anomalies: Report Of Six Unrelated Patients

2017

IF 2.259; International audience; Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin. Facial features were remarkable by nasal deformity with creased ridge and depressed or absent tip, widely spaced eyes, almond-shaped palpebr…

De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of E…

2013

Item does not contain fulltext Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging from mild anal anomalies to complex cloacal malformations. In 40-50% of cases, ARM occurs within the context of defined genetic syndromes or complex multiple congenital anomalies, such as VATER/VACTERL (vertebral defects [V], ARMs [A], cardiac defects [C], tracheoesophageal fistula with or without esophageal atresia [TE], renal malformations [R], and limb defects [L]) association. Here, we report the identification of deletions at chromosome 13q using single nucleotide polymorphism-based array analysis in two patients with mild ARM as part of VATER/VACTERL and VATER/VACTERL-like ass…

Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?

2013

Background: VATER association was first described in 1972 by Quan and Smith as an acronym which identifies a non-random co-occurrence of Vertebral anomalies, Anal atresia, Tracheoesophageal fistula and/or Esophageal atresia, Radial dysplasia. It is even possible to find out Cardiovascular, Renal and Limb anomalies and the acronym VACTERL was adopted, also, embodying Vascular, as single umbilical artery, and external genitalia anomalies. Methods: Data on patients with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) admitted in the Neonatal Intensive Care Unit (NICU) between January 2003 and January 2013 were evaluated for the contingent occurrence of typical VACTERL a…