Search results for "Congenital anomaly"

showing 3 items of 3 documents

Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data

2017

ObjectiveTo validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics.Design, setting and outcome measuresEUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks’ gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005–2009, and infant mortality (deaths of live births at age <1 year) compared with the WHO Mortality …

0301 basic medicineMalePediatrics030105 genetics & heredityInfant DeathGlobal Burden of Disease0302 clinical medicineCongenital anomaly ; DALY ; Global Burden of Disease ; YLL ; mortality.PregnancyPrenatal DiagnosisYLLEpidemiologyInfant MortalityPrevalenceMedicineEPIDEMIOLOGY030212 general & internal medicineRegistries1506DOWN-SYNDROMEPOPULATIONeducation.field_of_studyDALYAnomaly (natural sciences)Pregnancy OutcomeObstetrics and GynecologyGestational ageGeneral MedicineStillbirthUPDATED SYSTEMATIC ANALYSISPREVALENCEEuropeFetal Mortality/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleOriginal ArticleCHILD-MORTALITYAdultCOUNTRIESmedicine.medical_specialtyPopulationGestational AgeCongenital Abnormalities03 medical and health sciencesSDG 3 - Good Health and Well-beingJournal ArticleHumansCongenital anomalyAbortion Induced/statistics & numerical data; Adult; Congenital Abnormalities/diagnosis; Congenital Abnormalities/epidemiology; Europe/epidemiology; Female; Fetal Death/prevention & control; Fetal Mortality; Gestational Age; Global Burden of Disease/methods; Global Burden of Disease/statistics & numerical data; Humans; Infant; Infant Death/prevention & control; Infant Mortality; Infant Newborn; Male; Pregnancy; Pregnancy Outcome/epidemiology; Prenatal Diagnosis/methods; Prenatal Diagnosis/statistics & numerical data; Prevalence; Registries/statistics & numerical data; Stillbirth/epidemiology; Congenital anomaly; DALY; Global Burden of Disease; YLL; mortalityeducationFetal DeathPregnancybusiness.industryInfant NewbornInfantAbortion InducedNATIONAL CAUSESmedicine.diseasemortalityTRENDSInfant mortalityChild mortalityYears of potential life lostPediatrics Perinatology and Child HealthbusinessPRIMARY PREVENTIONDemography
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Paper 6: EUROCAT member registries: organization and activities.

2011

BACKGROUND: EUROCAT is a network of population-based congenital anomaly registries providing standardized epidemiologic information on congenital anomalies in Europe. There are three types of EUROCAT membership: full, associate, or affiliate. Full member registries send individual records of all congenital anomalies covered by their region. Associate members transmit aggregate case counts for each EUROCAT anomaly subgroup by year and by type of birth. This article describes the organization and activities of each of the current 29 full member and 6 associate member registries of EUROCAT. METHODS: Each registry description provides information on the history and funding of the registry, popu…

EmbryologyPediatricsDatabases FactualENGLANDMultiple congenital anomalyAge limit0302 clinical medicinePregnancyPrenatal DiagnosisPrevalenceConfidentiality030212 general & internal medicineRegistriesRISK0303 health scienceseducation.field_of_studyFetal death030305 genetics & hereditycongenital anomaly registriesGeneral MedicineorganizationStillbirthascertainment3. Good healthComputer algorithmEuropeCONGENITAL-ANOMALIESPrenatal screeningEvaluation Studies as TopicPopulation SurveillanceCommittee MembershipFemaleMedical emergencymedicine.medical_specialtyPopulationPopulation basedCongenital Abnormalities03 medical and health sciencesmedicineHumanseducationFetal DeathInternetbusiness.industryRENACAbortion InducedEstados de Saúde e de Doençamedicine.diseasepopulation-basedcongenital anomalies ; Europe ; multiple congenital anomaly ; computer algorithm ; classification ; surveillance ; etiologyPediatrics Perinatology and Child HealthbusinessDevelopmental BiologyBirth defects research. Part A, Clinical and molecular teratology
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The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication

2011

Chromosome 22, particularly the q11.2 sub-band, has long been recognized as responsible for multiple congenital anomaly disorders. In particular, its susceptibility to subtle microdeletions or, more rarely, microduplications has been attributed to the presence of several low-copy repeats spanning the region as mediators of nonallelic homologous recombination that result in 22q11.2 rearrangements. While recent data suggest that the frequency of 22q11.2 microduplications could be approximately half of all deletions, now only 50 unrelated cases have been reported thus far. However, it is reasonable to suppose that microduplications of 22q11.2 may be largely undetected as a result of a less-dis…

MaleChromosomes Human Pair 22Non-allelic homologous recombinationEpilepsies MyoclonicMultiple congenital anomalyBiologyRAB36 genemyoclonic epilepsySettore MED/38 - Pediatria Generale E SpecialisticaChromosome DuplicationGene duplicationClinical heterogeneityGeneticsmedicineHumansChildIn Situ Hybridization FluorescenceGenetics (clinical)GeneticsComparative Genomic HybridizationFaciesmedicine.diseaseMild learning difficultiesdevelopmental delayPhenotypeSettore MED/03 - Genetica MedicaChild PreschoolMyoclonic epilepsynonallelic homologous recombinationChromosome 2222q11.2 microduplicationComparative genomic hybridizationAmerican Journal of Medical Genetics Part A
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