Search results for "Atresia"

VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis.

1992

Vertebral abnormalities and anorectal and tracheoesophageal defects are the main manifestations in the VATER/VACTERL association. Radial defects vary from radial aplasia to thumb duplication. Heart and renal defects are reported with lower frequency. Additional malformations, such as the laryngeal stenosis described in the present patient, may expand the phenotype of the association. The wide spectrum of congenital abnormalities confirms the high clinical variability of VATER/VACTERL association which seems to be due to a disruption of blastogenesis. © 1992 Wiley-Liss, Inc.

Cellular therapies for the endometrium: An update

2018

An update on the current state of endometrial cell therapies in terms of cell types, mechanisms of action, delivery, safety, regulatory frameworks and future perspectives. This review focuses on clinical trials using angiogenesis-promoting therapies and stromal therapies piloted in the last 10 years for alleviating Asherman's syndrome and long-term infertility. All studies present promising preliminary results, indicating increased endometrial thickness and resumed menstruation. Further characterization of individual cell products, their mode of action and larger clinical trials will be essential to establishing cell therapy as a viable option for the treatment of infertility and fertility …

Atresia esofagea: management intensivo neonatale

2009

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…

A simple technique of oblique anastomosis can prevent stricture formation in primary repair of esophageal atresia

2012

Abstract Background Anastomotic stricture is an important problem after esophageal atresia (EA) repair. This study evaluates a technique of oblique esophageal anastomosis without use of a flap in order to prevent stricture formation. Methods Medical records of 16 patients (14 with EA type III and 2 with EA type IV Ladd-Gross classification) who underwent primary repair of EA at birth without anastomotic tension were reviewed, evaluating long-term follow-up results. All patients were studied with esophageal contrast study, pH-multichannel intraluminal impedance, and endoscopy. The incidence of complications and their management were analysed. Results Contrast esophagogram and esophagoscopy a…

Monozygotic monoamniotic twins discordant for uretrhal and anal atresia with vesicorectal fistula: a favourable

1998

Duodenal Atresia Repair Using a Miniature Stapler Compared to Laparoscopic Hand-Sewn and Open Technique

2019

Abstract Background: Laparoscopic duodenal atresia (DA) repair is a demanding procedure that requires performing a watertight anastomosis in a small working space. Drawbacks of the approach have be...

Sindrome di Feingold da delezione 2p24

2009

Different types of intestinal atresia in identical twins

2008

The authors present a previously unreported association of different types of intestinal atresia in identical low-birth-weight twins. Both babies were affected by duodenal atresia, associated in the first case with a complete mucosal duodenal membrane and in the second one with an "apple-peel" jejunal atresia. These occurrences may suggest that they were either the consequence of linkage of 2 genes or a pleiotropic expression of a single gene responsible for such rare conditions.

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:…