Search results for "ESOPHAGEAL ATRESIA"

showing 10 items of 26 documents

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.

Heart Septal Defects VentricularMalemedicine.medical_specialtyRadial aplasiaTerminology as TopicmedicineHumansEsophageal AtresiaLungGenetics (clinical)Polydactylybusiness.industryVATER/VACTERL ASSOCIATIONInfant NewbornLaryngostenosisAnatomySyndromemedicine.diseaseAnusPhenotypeVACTERL associationStenosismedicine.anatomical_structurePhenotypeRadiologyLaryngeal StenosisbusinessTracheoesophageal FistulaAmerican journal of medical genetics
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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…

EmbryologyCandidate geneGene ExpressionTranscriptomeMiceDatabase and Informatics MethodsMedicine and Health SciencesExomeExomeExome sequencingGenetics0303 health sciencesMultidisciplinaryComputer-Aided Drug DesignQ030305 genetics & hereditySequence analysisRGenomicsCongenital AnomaliesDNA-Binding Proteinsembryonic structuresAmino Acid AnalysisMedicineTranscriptome AnalysisTracheoesophageal FistulaResearch ArticleDrug Research and DevelopmentBioinformaticsSequence analysisScienceIn silicoBiologyResearch and Analysis Methods03 medical and health sciencesExome SequencingGeneticsCongenital DisordersAnimalsHumansddc:610Molecular Biology TechniquesEsophageal AtresiaMolecular BiologyDNA sequence analysis030304 developmental biologyHomeodomain ProteinsPharmacologyMolecular Biology Assays and Analysis TechniquesGene Expression ProfilingEmbryosDNA HelicasesBiology and Life SciencesComputational BiologyEmbryo MammalianGenome AnalysisFANCBRepressor ProteinsGene expression profilingBiological DatabasesDrug DesignMutation DatabasesMutationDevelopmental Biology
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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…

Malemedicine.medical_specialtyAnastomotic strictureAnastomosisPrimary repairPostoperative ComplicationsEsophagoplastyMedicineHumansEsophageal AtresiaAnastomosis complicationRetrospective Studiesmedicine.diagnostic_testbusiness.industryIncidenceAnastomosis SurgicalInfant NewbornRetrospective cohort studyGeneral Medicinemedicine.diseaseEsophageal anastomosisEndoscopySurgeryTreatment OutcomeAtresiaEsophagoplastyPediatrics Perinatology and Child HealthEsophageal StenosisSurgeryFemaleAnastomosis complication; Anastomotic stricture; Esophageal atresia;businessSuture lineFollow-Up Studies
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Using multidimensional scaling in model choice for congenital oesophageal atresia: similarity analysis of human autopsy organ weights with those from…

2020

Swine models had been popular in paediatric oesophageal surgery in the past. Although being largely replaced by rodent models, swine experienced a revival with the establishment of minipig models. However, none of them has ever been investigated for similarity to humans. We conducted a pilot study to determine whether three-week old Pietrain piglets and three-month old Aachen Minipigs are suitable for experimental paediatric oesophageal atresia surgery. We tested the operation's feasibility, performed a necropsy, weighed organs, measured organ length and calculated relative weights and lengths, and measured laboratory parameters. We used multidimensional scaling to assess the similarity of…

Malemedicine.medical_specialtySwineSus scrofaAutopsyPilot Projects03 medical and health sciences0302 clinical medicineAnimal modelSimilarity analysisOesophageal surgerymedicineAnimalsHumansModel choiceMultidimensional scalingEsophageal AtresiaGeneral Veterinarybusiness.industryInfantOrgan Sizemedicine.diseaseDisease Models Animal030220 oncology & carcinogenesisAtresiaMultidimensional Scaling AnalysisSwine Miniature030211 gastroenterology & hepatologyAnimal Science and ZoologyFemaleRadiologybusinessLaboratory animals
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An experimental study on long term outcomes after magnetic esophageal compression anastomosis in piglets

2021

Abstract Background/Purpose Previous studies have shown that a patent, watertight esophageal anastomosis can be accomplished safely using specially-shaped magnets in piglets. However, it is unclear whether such a magnetic esophageal compression anastomosis (MECA) remains patent in the long-term. The purpose of this study was to evaluate the long-term outcome of MECA in an experimental pig model over an observation period of 2 months. Methods Ten piglets underwent creation of an MECA with custom-made 8 mm magnets and a U-shaped esophageal bypass loop to allow peroral nutrition at eight weeks of life. Two weeks later, the bypass loop was closed surgically, requiring the pigs to swallow via th…

medicine.medical_specialtyEndoscopeSwineAnastomosisMagneticsmedicineAnimalsEsophagusEsophageal Atresiabusiness.industryMagnetic PhenomenaAnastomosis SurgicalGeneral Medicinemedicine.diseaseDysphagiaConfidence intervalSurgerymedicine.anatomical_structureAtresiaPediatrics Perinatology and Child HealthMagnetsSurgeryHistopathologymedicine.symptombusinessWeight gainJournal of Pediatric Surgery
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Etiological heterogeneity and clinical variability in newborns with esophageal atresia

2018

Abstract Background The aim of this study was to define different characteristics of infants with esophageal atresia and correlations with neonatal level of care, morbidity and mortality occurring during hospital stay. Methods Charts of all newborns with esophageal atresia (EA) admitted to our University NICU between January 2003 and November 2016 were reviewed and subdivided in four groups related to different clinical presentations; EA as an isolated form (A), with a concomitant single malformation (B), as VACTERL association (C), and in the context of a syndrome or an entity of multiple congenital anomalies (D). Results We recruited 67 infants with EA (with or without tracheoesophageal f…

MalePediatricsDatabases FactualAnal CanalTracheoesophageal fistulaKidneyCohort StudiesVACTERL association0302 clinical medicineMedicine030212 general & internal medicineHospital Mortalitylcsh:RJ1-570General MedicinePrognosisVACTERL associationTracheaRetrospective studyFemaleNeonatal intensive careRetrospective study Esophageal atresia VACTERL association Neonatal intensive care NewbornHeart Defects Congenitalmedicine.medical_specialtyLimb Deformities CongenitalContext (language use)Gestational AgeRisk Assessment03 medical and health sciencesEsophagus030225 pediatricsIntensive careIntensive Care Units NeonatalHumansAbnormalities MultipleGenetic Predisposition to DiseaseRetrospective Studiesbusiness.industryResearchInfant NewbornRetrospective cohort studylcsh:PediatricsLength of Staymedicine.diseaseNewbornSurvival AnalysisSpineParenteral nutritionAtresiaEsophageal atresiaEtiologybusiness
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A Continuous Suture Anastomosis Outperforms a Simple Interrupted Suture Anastomosis in Esophageal Elongation.

2020

Abstract Introduction Long-gap esophageal atresia represents a distinct entity among the esophageal atresia spectrum. In many patients, achieving a reasonable anastomosis depends on some millimeters of tissue. We aimed to determine what effect the suturing technique would have on esophageal ex vivo elongation as it may determine the strength of a primary anastomosis. Materials and Methods In an analysis of porcine esophagi from animals for slaughter (100–120 days old with a weight of 100–120 kg), we determined esophageal length gain of simple continuous and simple interrupted suture anastomoses subjected to linear traction until linear breaking strength was reached. Statistical power of 80%…

medicine.medical_specialtySwineAnastomosisBreaking strength03 medical and health sciences0302 clinical medicineEsophagus030225 pediatricsTensile StrengthMedicineAnimalsHumansEsophageal Atresiabusiness.industryPrimary anastomosisAnastomosis SurgicalSuture Techniquesmedicine.diseaseConfidence intervalSurgery030220 oncology & carcinogenesisAtresiaPediatrics Perinatology and Child HealthSurgerybusinessContinuous sutureEuropean journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
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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…

Heart Defects CongenitalMalemedicine.medical_specialtyPediatricsVATERLimb Deformities CongenitalAnal CanalTracheoesophageal fistulaKidneyNervous System MalformationsUmbilical ArteriesAssociationAnus ImperforateEsophagusSettore MED/38 - Pediatria Generale E SpecialisticaIntensive Care Units NeonatalVACTERLmedicinePrevalenceHumansEsophagusEsophageal AtresiaSicilyRetrospective StudiesCongenital malformationsSingle umbilical arterybusiness.industryTracheo-esophageal fistulaResearchSettore MED/20 - Chirurgia Pediatrica E InfantileRadial dysplasiaInfant NewbornAnomaliesSyndromeAnal canalToesmedicine.diseaseVACTERL associationSpineSurgeryTracheaEsophageal atresia; Tracheo-esophageal fistula; VATER; VACTERL; Association; Congenital malformations; Anomaliesmedicine.anatomical_structureAnal atresiaPhenotypeAtresiaCongenital malformationFemalebusiness
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Evaluation of esophageal motility and reflux in children treated for esophageal atresia with the use of combined multichannel intraluminal impedance …

2011

Abstract Background Gastroesophageal reflux (GER) and dysmotility are frequent in patients treated for esophageal atresia (EA). This aim of this study is to evaluate GER and dysmotility in young EA patients using pH–multichannel intraluminal impedance (pH-MII). Methods Fifteen patients with a mean age of 7.5 years (group 1) have been studied and compared with 15 children without congenital malformation, submitted to pH-MII for suspected GER (group 2). These latter patients serve as a control group of healthy subjects. The following impedance reflux and motility parameters have been studied on 10 standardized swallows: number of reflux episodes, mean acid clearing time, median bolus clearing…

Malemedicine.medical_specialtyEsophageal pH MonitoringMonitoring AmbulatoryTransit timeGastroesophageal reflux diseasePh monitoringGastroenterologyBolus (medicine)EsophagusPostoperative ComplicationsInternal medicinemedicineElectric ImpedanceEsophagitisHumansIn patientEsophageal Motility DisordersChildEsophageal Atresiabusiness.industrySettore MED/20 - Chirurgia Pediatrica E InfantileRefluxHealthy subjectsGeneral Medicinemedicine.diseaseEsophageal dysmotilityMultichannel Intraluminal ImpedanceDeglutitionEsophageal pHAtresiaChild PreschoolPediatrics Perinatology and Child HealthGastroesophageal RefluxSurgeryFemalePeristalsisEsophagoscopybusinessRheologyEsophageal motilityTracheoesophageal FistulaJournal of pediatric surgery
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Aortopexy in esophageal atresia: Long-term experience of a parent support group

2001

Abstract Purpose: The aim of this study was to obtain the parents' view of aortopexy after esophageal atresia. Methods: A questionnaire was completed by the parents of 24 former patients, now aged from 1 to 15 years (average, 8.9; median, 9.0 years). The respondents were all members of a support group. Results: The median age of the patients receiving aortopexy was 4 months. The 24 procedures were performed in 16 different hospitals. The subjects had experienced a median of 3 apneic attacks. Technical complications occurred in 4 of the 24 children. In 71%, aortopexy was an immediate success. Conclusion: Despite its low success rate compared with centers with large cumulative experience, 90%…

Pediatricsmedicine.medical_specialtyParent supportmedicine.medical_treatmentSupport groupmedicineHumansEsophagusChildEsophageal AtresiaAortabusiness.industryEsophageal diseaseInfantAortopexyGeneral Medicinemedicine.diseaseTreatment Outcomemedicine.anatomical_structureEl NiñoPatient SatisfactionChild PreschoolAtresiaPediatrics Perinatology and Child HealthApneic attacksSurgerybusinessJournal of Pediatric Surgery
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