Добірка наукової літератури з теми "Oesophageal atresia"

Oesophageal atresia with or without tracheo-oesophageal fistula, ileal atresia and Hirschsprung’s disease are surgical malformations of the gastrointestinal tract typically diagnosed early in the neonatal period and varying in severity and prognosis. This report describes a full-term male newborn presenting simultaneous oesophageal atresia with distal tracheo-oesophageal fistula, ileal atresia and Hirschsprung’s disease. In addition to the complex types of gastrointestinal malformations involved, the combination of ileal atresia and Hirschsprung’s disease, as well as ganglion cells distal to intestinal atresia, resulted in a challenging diagnosis. Despite a successful outcome, the patient presented increased morbidity and prolonged hospitalisation. We highlight some important findings that may aid the early diagnosis of Hirschsprung’s disease in this clinical setting. To our knowledge, the association of oesophageal atresia/tracheo-oesophageal fistula, ileal atresia and Hirschsprung’s disease has not been previously reported.

Summary The population incidence of oesophageal atresia is 1 in 3000 live birth. Most cases are sporadic but familial cases have been reported. The etiology of oesophageal atresia is multifactorial pathogenic mechanism, in which environmental and polygenic factors contribute to the development of the anomaly. Only 6–7% of cases have abnormal karyotype on chromosomal analysis. When a family history of oesophageal atresia exist, the parents should be offered genetic counseling. Antenatal screening by detailed ultrasound scans which should be done at expert centers. After birth the pediatrician should role out an oesophageal atresia by the passage of a nasogastric tube.

A tissue-engineered oesophagus could overcome the serious limitations associated with current oesophageal replacements and become a concrete therapeutic option for paediatric patients affected by long-gap oesophageal atresia or adults suffering from oesophageal cancer. Despite promising advances have been made in the field of “whole-organ” bioengineering, no efficient oesophageal substitutes are available so far. Combining decellularized scaffolds with autologous cells showed optimistic results in the regeneration of tissue defects. Thus, the purpose of my research was to generate in vitro the oesophageal muscularis externa, a layer of the oesophagus composed of muscle and nervous tissues. In this proof-of-principle study, some of the major challenges of organ engineering have been addressed: i) ideal sources of muscle and neuronal precursors have been selected; ii) appropriate repopulation and maturation of the oesophageal graft have been achieved recreating ex-vivo the optimal environment for cell growth and differentiation; iii) construct maturation and cell survival have been tested in vivo in a murine model. A cell tracking system was also fine-tuned as a valuable tool for monitoring cell migration throughout the scaffold during the culture time. Overall, the approach reported in this PhD thesis provided a fully repopulated and vascularized oesophageal construct, which in the near future could become a novel alternative for the treatment of long-gap oesophageal atresia or other oesophageal pathological conditions.

Les progrès des dernières décennies dans la prise en charge néonatale et chirurgicale des enfants présentant une atrésie de l’oesophage (AO) ont permis une amélioration significative de leur espérance de vie. Cependant une morbidité importante persiste - en particulier digestive - à court, moyen et long terme, même si la prévalence de ces complications et leurs facteurs de risque restent actuellement mal identifiés. L’objectif de ce travail était d’étudier chez les enfants nés avec une AO, en population, trois complications digestives et leurs déterminants à trois périodes différentes de l’évolution d’une AO.Le premier travail s’est intéressé à la prévalence du dumping syndrome (DS) à l’âge de 3 mois, à l’aide d’une étude prospective multicentrique (n=38). Les nouveau-nés bénéficiaient systématiquement d’une hyperglycémie provoquée par voie orale entre l’âge de 2,5 et 3,5 mois. La glycémie était évaluée de façon discontinue pendant 4 heures, ce qui permettait de repérer les hyperglycémies précoces et les hypoglycémies tardives. Trente pour cent des patients avaient un DS, sans association identifiée avec les signes cliniques observés. Aucun facteur associé au DS n’a pu être mis en évidence dans cette étude.Le deuxième travail s’est intéressé aux facteurs de risque de sténose de l’anastomose (SA) à 1 an, par une étude prospective longitudinale multicentrique en population (n=1082). Les données à la naissance et à un an étaient relevées grâce au registre national français de l’AO (RENATO). Vingt-trois pour cent des enfants présentaient une SA à l’âge de 1 an, et les seuls facteurs de risque de SA identifiés étaient chirurgicaux (anastomose sous tension et anastomose retardée).Le troisième travail a porté sur les facteurs de risque et l’histoire naturelle du reflux gastro-oesophagien (RGO) à l’âge de 6 ans, par une étude prospective longitudinale multicentrique d’une cohorte nichée dans le registre RENATO (n=286). Les données à 6 ans étaient relevées grâce au réseau des centres participant au registre, avec la même méthodologie que le registre. Un tiers des enfants présentaient un RGO à l’âge de 6 ans, et 20% d’entre eux en avaient été opérés. La présence d’un RGO à l’âge de 1 an, un antécédent de gastrostomie avant l’âge d’un an, le sexe masculin et la dénutrition étaient les 4 facteurs prédictifs de RGO à l’âge de 6 ans. Le RGO pouvait disparaître, persister ou apparaître de novo à l’âge de 6 ans.Ce travail a permis la description du DS, nouvelle complication fréquente observée à court terme dans l’AO, d’individualiser des groupes à risque de complication digestives à court et moyen terme (1 an pour les SA et 6 ans pour le RGO) et de décrire l’évolution naturelle à moyen terme du RGO. Ses perspectives sont d’étudier la physiopathologie du DS dans l’AO et de poursuivre le suivi de la cohorte nichée à 12-13 ans, afin de mieux décrire l’histoire naturelle et d’aider à repérer les populations à risque pour adapter le suivi et le traitement de ces patients
Advances in neonatal and surgical management of children with oesophageal atresia (OA) over the last decades lead to a significant improvement in life expectancy. However, significant morbidity persists - in particular digestive - in the short, medium and long term, even if the prevalence of these complications and their underlying risk factors remain poorly identified. The aim of the thesis was to investigate digestive complications and their short- and medium-term determinants in children born with OA, at the level of the French population, by studying three complications occurring at three different ages.The first study focused on the prevalence of dumping syndrome (DS) at 3 months of age, through a prospective multicenter cohort (n=38). All newborns systematically underwent an oral glucose tolerance test between 2.5 and 3.5 months of age. Blood glucose levels were recorded discontinuously over a 4-hour period, in order to identify early hyperglycaemia and/or late hypoglycaemia. Thirty percent of the included patients had a DS, which did not correlate with the presenting clinical signs. No factors associated with DS could be identified.The second study focused on the risk factors for anastomotic stenosis (AS) at 1 year of age, through a prospective longitudinal multicenter population-based study (n=1082). Data at birth and at one year were collected from the French national registry for OA (RENATO). Twenty-three percent of OA patients had AS at 1 year of age, and the only risk factors identified were surgical (anastomosis under tension and delayed anastomosis).The third study focused on the risk factors and natural history of gastrooesophageal reflux disease (GORD) at the age of 6 years, through a prospective longitudinal multicenter study of a nested cohort from the RENATO registry (n=286). Data at 6 years were collected through the CRACMO network of centers of the registry, using the same methodology as for RENATO. One third of patients had GORD at the age of 6 years, 20% of whom underwent fundoplication. Presence of GORD at the age of 1 year, history of gastrostomy before the age of 1 year, male gender, and undernutrition were the 4 independent predictive factors of GORD at the age of 6 years. From the age of 1 year, GORD could disappear, persist, or appear de novo at the age of 6 years.This work allowed the description of DS, a new frequent short-term complication in OA, the identification of groups at risk for digestive complications in the short and medium term (at 1 year for AS and at 6 years for GORD) and the description of the natural evolution of GORD in the medium term. Its perspectives are to study the pathophysiology of DS in AO and to continue the follow-up of the nested cohort at 12-13 years, to better describe the natural history and to help to identify populations at risk, thereby allowing to adapt the follow-up and personalize treatment of these patients

This chapter describes the presentation, investigation, and management of congenital and acquired gastrointestinal problems. It begins with a symptom-based approach giving differential diagnoses for vomiting, haematemesis, bloody stools, and diarrhoea. All common congenital problems are covered including oesophageal atresia, tracheo-oesophageal fistula, intestinal atresia, exomphalos, gastroschisis, malrotation, volvulus, meconium ileus, Hirschsprung’s disease, and anorectal anomalies. There are several pages devoted to necrotizing enterocolitis. Throughout there is a description of the surgical management of relevant conditions.

This chapter covers paediatric operations. Procedures like rigid bronchoscopy, chest drain insertion, and central venous catheter insertion are described. Common operations of abscess drainage, appendicectomy, laparoscopy, gastrostomy, circumcision, epigastric and umbilical hernia repair, external angular dermoid cyst excision, inguinal hernia, and hydrocele are all outlined. Other operations described are fundoplication, ileostomy formation, pyloromyotomy, small-bowel resection and anastomosis. Surgery for intussusception, small-bowel atresia, meconium ileus, and oesophageal atresia are included. Urological operations include orchidopexy, scrotal exploration, cystoscopy, endoscopic correction of vescico urteric reflux (VUR), insertion and removal of JJ stent, vesicostomy, suprapubic catheter insertion, nephrectomy, repair of hypospadias, bladder augmentation, and Anderson Hynes pyeloplasty.