Search results for " Imperforate"

showing 8 items of 8 documents

Anorectal malformations and pregnancy-related disorders: a registry-based case-control study in 17 European regions

2013

Objective To identify pregnancy-related risk factors for different manifestations of congenital anorectal malformations (ARMs).Design A population-based case-control study.Setting Seventeen EUROCAT (European Surveillance of Congenital Anomalies) registries, 1980-2008.Population The study population consisted of 1417 cases with ARM, including 648 cases of isolated ARM, 601 cases of ARM with additional congenital anomalies, and 168 cases of ARM-VACTERL (vertebral, anal, cardiac, tracheo-esophageal, renal, and limb defects), along with 13371 controls with recognised syndromes or chromosomal abnormalities.Methods Multiple logistic regression analyses were used to calculate adjusted odds ratios …

ANOMALIESaetiologyMaternalLogistic regressionAnus ImperforateEpilepsyPre-EclampsiaMEDICATION USEPregnancyRisk FactorsOdds RatioAetiologymedia_commoneducation.field_of_studyObstetricsMATERNAL EXPOSUREObstetrics and GynecologyAnal atresiaCONGENITAL-MALFORMATIONSAnorectal MalformationsEuropeParityHuman Reproduction Renal disorder [NCEBP 12]Population studyFemaleAnal Atresiamedicine.medical_specialtyFeverReproductive Techniques Assistedmedia_common.quotation_subjectPopulationFertilityGenomic disorders and inherited multi-system disorders [IGMD 3]VACTERLmedicineanorectal malformations; anal atresia; birth defects; aetiology; maternal; pregnancy; VACTERLHumansAbnormalities MultipleBirth DefectseducationPregnancyEpilepsybusiness.industryRENACCase-control studyInfant NewbornAbortion InducedOdds ratioBIRTH-DEFECTS PREVENTIONBECKWITH-WIEDEMANN-SYNDROMEHuman Reproducion Genomic disorders and inherited multi-system disorders [NCEBP 12]Estados de Saúde e de Doençamedicine.diseasePregnancy Complicationsmaternalbirth defectsEvaluation of complex medical interventions [NCEBP 2]Case-Control StudiesRISK-FACTORSPregnancy TwinMULTIPLE BIRTHSbusinessIN-VITRO FERTILIZATION
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Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: no eviden…

2013

BACKGROUND Esophageal atresia with/without trachea-esophageal fistula (EA/TEF) denotes a spectrum of severe congenital malformations. The aim of this systematic study was to determine both the recurrence risk for EA/TEF, and the risk for malformations of the VATER/VACTERL association spectrum, in first-degree relatives of patients with isolated EA/TEF. METHODS A total of 108 unrelated patients with isolated EA/TEF were included. These individuals had 410 first-degree relatives including 194 siblings. The presence of EA/TEF and malformations of the VATER/VACTERL association spectrum in relatives was systematically assessed. Data from the EUROCAT network were used for comparison. RESULTS None…

AdultHeart Defects CongenitalMaleRiskEmbryologymedicine.medical_specialtyAdolescentFistulaInheritance PatternsLimb Deformities CongenitalAnal CanalKidneyGastroenterologyRecurrence riskAnus ImperforateEsophagusInternal medicinemedicineHumansEsophageal FistulaFirst-degree relativesChildEsophageal Atresiabusiness.industrySiblingsVATER/VACTERL ASSOCIATIONGeneral Medicinemedicine.diseaseVACTERL associationSpinePedigreeTracheaRadiusAtresiaCase-Control Studiesembryonic structuresPediatrics Perinatology and Child HealthCohortFemalebusinessDevelopmental BiologyTracheoesophageal FistulaBirth defects research. Part A, Clinical and molecular teratology
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Female pelvic congenital malformations. Part I: embryology, anatomy and surgical treatment.

2011

This review covers the most important female congenital pelvic malformations. The first part focuses on the embryological development of the urogenital and anorectal apparatus, morphological features, and the diagnostic and surgical approach to abnormalities. Comprehension of the embryological development of the urogenital and anorectal apparatus is essential to understand the morphology of congenital pelvic abnormalities and their surgical treatment. Congenital pelvic malformations are characterized by specific common features; the severity of which often subverts the pelvic morphology completely and makes it difficult to comprehend before surgery. The development of imaging, mainly magnet…

Adultmedicine.medical_specialtyReconstructive surgeryanorectal malformations46 XX Disorders of Sex DevelopmentAdolescentEmbryonic DevelopmentUrogenital SystemKidneyCongenital AbnormalitiesPelvisAnus Imperforatemedicinemayer-rokitansky-küster-hauser syndromeHumanscongenital adrenal hyperplasiaCongenital adrenal hyperplasiaMayer-Rokitansky-Kuster-Hauser SyndromeAbnormalities MultipleIntestine LargeMullerian Ductsmayer-rokitansky-kuster-hauser syndrome; mayer–rokitansky–kuster–hauser syndrome; mayer-rokitansky-küster-hauser syndrome; congenital adrenal hyperplasia; anorectal malformations; bladder exstrophymedicine.diagnostic_testAdrenal Hyperplasia Congenitalbusiness.industryGenitourinary systemmayer–rokitansky–kuster–hauser syndromeUterusObstetrics and GynecologyInfantMagnetic resonance imagingAnatomyAnusmedicine.diseaseSpineSurgeryBladder exstrophymedicine.anatomical_structureReproductive MedicineSomitesEmbryologyVaginamayer-rokitansky-kuster-hauser syndromeFemalebusinessbladder exstrophy
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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…

Heart Defects CongenitalMalemedicine.medical_specialtyCandidate geneLimb Deformities CongenitalTracheoesophageal fistulaSingle-nucleotide polymorphismContext (language use)Chromosome DisordersEphrin-B2BiologyGastroenterologyAnus ImperforateMiceEsophagusInternal medicineGeneticsmedicineAnimalsHumansIn patientGenetics (clinical)Mice KnockoutChromosomes Human Pair 13Infant NewbornChromosomeAnatomymedicine.diseaseAnorectal MalformationsSpineTracheaDisease Models AnimalRadiusHuman Reproduction Renal disorder [NCEBP 12]Evaluation of complex medical interventions [NCEBP 2]AtresiaChild PreschoolMutationMutation testingFemaleChromosome DeletionGenetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]American Journal of Medical Genetics. Part A
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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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First results of a European multi-center registry of patients with anorectal malformations.

2013

Background: The European consortium on anorectal malformations (ARM-NET) was established to improve the health care of patients and to identify genetic and environmental risk factors. The aim of the present study was to present the first results on clinical data of a large European cohort of ARM patients based on our registry. Methods: In 2010, the registry was established including patient characteristics and data on diagnosis, surgical therapy, and outcome regarding complications. Patients born between 2007 and 2012 were retrospectively added. A descriptive analysis of this cohort was performed. Results: Two hundred and three ARM patients were included. Syndromes or chromosomal abnormalit…

MalePediatricsmedicine.medical_specialtyPatient characteristicsComorbidityGenomic disorders and inherited multi-system disorders [IGMD 3]Anus ImperforatePostoperative ComplicationsEnvironmental riskHealth careFemale patientmedicineHumansAbnormalities MultipleRegistriesRetrospective StudiesChromosome Aberrationsbusiness.industryIncidence (epidemiology)IncidenceInfant NewbornUrogenital AbnormalityGeneral MedicineSyndromeHuman Reproducion Genomic disorders and inherited multi-system disorders [NCEBP 12]Anorectal MalformationsEuropeTreatment OutcomeHuman Reproduction Renal disorder [NCEBP 12]Evaluation of complex medical interventions [NCEBP 2]Urogenital AbnormalitiesPediatrics Perinatology and Child HealthCohortEtiologySurgeryFemalebusiness
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Prognostic evaluation of biofeedback response in patients treated for anorectal malformation

2015

Abstract Purpose Functional bowel outcome in patients with anorectal malformation often is poor. For fecal incontinence resulting from sphincter dysfunction, biofeedback (BFB) training appears to be effective. The aim of study was to investigate the bowel function in incontinent children treated for ARM, using a clinical score, a manometric and pelvic magnetic resonance evaluation, in order to establish predictive parameters of response after BFB. Methods 25 children (median age of 6.5years) with true fecal incontinence were evaluated by clinical score, anorectal manometry and magnetic resonance imaging (MRI). According to these evaluations patients were divided in 4 groups: group 1 (favora…

Malemedicine.medical_specialtyManometrymedicine.medical_treatmentAnal CanalRectumBiofeedbackAnus ImperforateBiofeedback trainingmedicineHumansFecal incontinenceAnorectal malformation; Anorectal manometry; Biofeedback training; Fecal incontinenceChildmedicine.diagnostic_testbusiness.industryGenitourinary systemSettore MED/20 - Chirurgia Pediatrica E InfantileAnorectal manometryRectumBiofeedback PsychologyMagnetic resonance imagingGeneral MedicineAnal canalAnorectal malformationPrognosisMagnetic Resonance ImagingAnorectal manometryAnorectal MalformationsSurgeryTreatment Outcomemedicine.anatomical_structureChild PreschoolPediatrics Perinatology and Child HealthSphincterFemaleSurgeryRadiologymedicine.symptombusinessFecal IncontinenceJournal of Pediatric Surgery
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The Challenges of the European Anorectal Malformations-Net Registry

2015

Item does not contain fulltext Anorectal malformations (ARM) have a low prevalence, patients need specialized surgical care, and in many cases, patients born with ARM even need life-long aftercare. Due to its low prevalence most patients are still treated in low-volume pediatric surgical centers without any adequate monitoring of the outcome. Data on prevalence, comparison of different surgical techniques, and prospective outcome measurements are still scarce and difficult to interpret. In 2010, a consortium was founded (ARM-Net consortium) including several European pediatric surgical centers to collaborate more in research and share knowledge on ARM. One of the structures started by the c…

Registrymedicine.medical_specialtyPediatricsOutcome measurementsbusiness.industryGeneral surgerySurgical careRectumAnal CanalNetworkAnorectal malformationAnorectal MalformationsRare diseasesAnorectal malformation; Network; Rare diseases; RegistryReconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10]Anus ImperforateEuropeReconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10]Pediatrics Perinatology and Child HealthStill facemedicineHumansSurgeryRegistriesbusinessEuropean Journal of Pediatric Surgery
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