Search results for " Anomalies"

showing 10 items of 78 documents

Epidemiology of multiple congenital anomalies in Europe : A EUROCAT population-based registry study

2014

BACKGROUND: This study describes the prevalence, associated anomalies, and demographic characteristics of cases of multiple congenital anomalies (MCA) in 19 population-based European registries (EUROCAT) covering 959,446 births in 2004 and 2010.METHODS: EUROCAT implemented a computer algorithm for classification of congenital anomaly cases followed by manual review of potential MCA cases by geneticists. MCA cases are defined as cases with two or more major anomalies of different organ systems, excluding sequences, chromosomal and monogenic syndromes.RESULTS: The combination of an epidemiological and clinical approach for classification of cases has improved the quality and accuracy of the M…

MaleEmbryologyPediatricsEpidemiologyPrenatal diagnosisINFANTSPregnancyEpidemiologyPrevalenceMedicineRegistrieseducation.field_of_studyAutomatic Data ProcessingGeneral MedicineClassificationEpidemiology ; Multiple congenital anomalies ; Classification ; Prevalence ; Prenatal diagnosisComputer algorithmEuropeclassificationcardiovascular systemFemaleepidemiologyPopulation-Based RegistryAlgorithmscirculatory and respiratory physiologymedicine.medical_specialtyPopulationprevalencePrenatal diagnosismultiple congenital anomaliesBIRTH-DEFECTSHumansAbnormalities MultipleMALFORMATIONSRATEScardiovascular diseaseseducationRetrospective StudiesElectronic Data ProcessingPregnancyprenatal diagnosisbusiness.industryPublic healthRetrospective cohort studymedicine.diseasenervous system diseasesPediatrics Perinatology and Child HealthMultiple congenital anomaliesPATTERNSbusinessDevelopmental Biology
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Spectrum of congenital anomalies in pregnancies with pregestational diabetes

2012

BACKGROUND Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies. METHODS: Data from 18 population-based EUROCAT registries of congenital anomalies in 1990-2005. All malformed cases occurring to mothers with pregestational diabetes (diabetes cases) were compared to all malformed cases in the same registry areas to mothers without diabetes (non-diabetes cases). RESULTS: There were 669 diabetes cases and 92,976 non diabetes cases. Odds ratios in diabetes pregnancies re…

MaleEmbryologyPediatricsPregestational DiabetesPregnancy in DiabeticsMELLITUSPregnancyRisk FactorsNeural Tube DefectsRegistriesLivebirthsRISKeducation.field_of_studyOUTCOMESlivebirthsWOMENEarGeneral MedicineASSOCIATIONCongenital AnomaliesEuropeAnotiaPopulation SurveillanceFemaleNEURAL-TUBE DEFECTSLive BirthHernia UmbilicalAdultHeart Defects Congenitalmedicine.medical_specialtyPopulationPopulation Basedpopulation basedCongenital AbnormalitiesYoung AdultDiabetes mellitusAnencephalyBIRTH-DEFECTSmedicineDiabetes MellitusHumansMALFORMATIONSRisk factoreducationTYPE-1Congenital MicrotiaOmphaloceleSpina bifidabusiness.industrycongenital anomaliesInfant NewbornOdds ratioNATIONWIDEmedicine.diseaseEstados de Saúde e de Doençapregestational diabetesPregnancy ComplicationsPediatrics Perinatology and Child HealthbusinessDevelopmental BiologyBirth Defects Research. Part A: Clinical and Molecular Teratology
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Trends in congenital anomalies in Europe from 1980 to 2012

2018

Background Surveillance of congenital anomalies is important to identify potential teratogens. Methods This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980–2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. Results Seventeen anomaly subgroups had statistically significant trends from 2003±2012; 12 increasing and 5 decreasing. Conclusions The annual increasing prevalence of severe congenital heart defects, single ventricle, atrioventricular septal defects and tetralogy of Fallot of 1.4% (95% CI: 0.7% to …

MaleMaternal HealthLimb Reduction Defectslcsh:MedicineHEART-DEFECTS030204 cardiovascular system & hematologyFOLIC-ACID FORTIFICATIONPathology and Laboratory MedicineGeographical Locations0302 clinical medicineEUROCATPregnancyDuctus arteriosusPrevalenceMedicine and Health SciencesMorphogenesis030212 general & internal medicineRegistrieslcsh:ScienceTetralogy of FallotRISKStenosiseducation.field_of_studyMultidisciplinaryObstetricsIncidence (epidemiology)Obstetrics and GynecologyHeartASSOCIATIONCongenital Heart DefectsCongenital AnomaliesEuropePOPULATION-BASED EVALUATIONmedicine.anatomical_structurecongenital anomalies ; surveillance epidemiologyPopulation SurveillanceMicrocephalyNEURAL-TUBE DEFECTSFemaleAnatomyResearch Articlemedicine.medical_specialtyCardiac VentriclesPopulationCardiologyHistory 21st CenturyDuodenal atresiaEurope/epidemiologyCongenital Abnormalities03 medical and health sciencesSigns and SymptomsDiagnostic MedicinemedicineCongenital DisordersHumansBirth DefectseducationPregnancyZIKA VIRUS-INFECTIONbusiness.industrylcsh:RBiology and Life SciencesHistory 20th Centurymedicine.diseaseCongenital Abnormalities/diagnosisCongenital Abnormalities/diagnosis; Congenital Abnormalities/epidemiology; Congenital Abnormalities/etiology; Congenital Abnormalities/history; Europe/epidemiology; Female; History 20th Century; History 21st Century; Humans; Male; Population Surveillance; Pregnancy; Prevalence; RegistriesTeratologyREDUCTIONAtresiaPeople and PlacesBirthCardiovascular AnatomyVentricular Septal DefectsWomen's Healthlcsh:QbusinessDevelopmental BiologyPLoS One
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An epidemiological study of dental agenesis in a primary health area in Spain : estimated prevalence and associated factors

2010

Objectives: To evaluate the prevalence of dental agenesis and its possible association with other developmental dental anomalies and systemic entities. Setting and Sample Population: Descriptive transversal study, for which 1518 clinical records, of patients visited by the Odontological Service of the Primary Health Centre of Cassà de la Selva (Girona-Spain) between December 2002 and February 2006 were reviewed. The data were recorded in relation to the oral and dental anomalies and the associated systemic entities, between the ones referred as concomitant in literature. Results: Values of 9.48% (7.25% excluding the third molars) for dental agenesis and 0.39% for oligodontia were obtained. …

MalePediatricsmedicine.medical_specialtyCataloniaDentistryCentres d'atenció primàriaOligodontia03 medical and health sciences0302 clinical medicinePatologia dentalCatchment Area Healthstomatognathic systemGenetic etiologyRisk FactorsPrimary healthEpidemiologymedicinePrevalenceDentitionHumansEspanyaGeneral Dentistry030304 developmental biologyAnodontia0303 health sciencesDental anomaliesPrimary Health Carebusiness.industryDental agenesisCatalunyaCommunity health services030206 dentistryDentició:CIENCIAS MÉDICAS [UNESCO]3. Good healthstomatognathic diseasesOtorhinolaryngologySpainConcomitantUNESCO::CIENCIAS MÉDICASSurgeryFemalebusinessClinical recordDental pathology
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Prevalence of microcephaly in Europe: population based study.

2016

Objectives: Microcephaly is a congenital anomaly where the baby’s head is smaller than expected when compared with babies of the same sex, age and ethnicity. Many of these babies will have underdeveloped brains. This study aimed to provide contemporary estimates of the prevalence of microcephaly in Europe, determine if the diagnosis of microcephaly is consistent across Europe and to evaluate whether changes in prevalence would be detected using the current European surveillance performed by EUROCAT (the European Surveillance of Congenital Anomalies). Design: A questionnaire and a population-based, observational study Setting: 24 EUROCAT registries covering 570,000 births annually in 15 coun…

MalePediatricsmedicine.medical_specialtyMicrocephalyPrenatal diagnosisEthnic originmicrocephaly ; prevalence surveillance03 medical and health sciencessymbols.namesakeEuropean Surveillance of Congenital Anomalies0302 clinical medicineMicrocefaliaEuropean SurveillancePregnancyEUROCAT030225 pediatricsStatistical significancePrenatal DiagnosisSurveys and QuestionnairesmedicinePrevalenceJournal ArticleHumans030212 general & internal medicinePoisson regressionRegistriesEurope/epidemiology; Female; Fetal Death; Humans; Male; Microcephaly/diagnosis; Microcephaly/epidemiology; Population Surveillance; Pregnancy; Prenatal Diagnosis; Prevalence; Registries; Retrospective Studies; Surveys and QuestionnairesFetal DeathRetrospective StudiesPregnancyZIKA VIRUS-INFECTIONbusiness.industryResearchRENACRetrospective cohort studyGeneral Medicinemedicine.diseaseEstados de Saúde e de DoençaObservação em Saúde e VigilânciaCongenital AnomaliesConfidence intervalEuropeCONGENITAL-ANOMALIESPopulation SurveillancesymbolsMicrocephalyFemalebusiness
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Decayed, missing and filled teeth and dental anomalies in long term survived leukemic children: a prospective controlled study

2011

Objective: The aim of this prospective controlled study is the comparison between long-term children survived leukaemia and a control group in terms of the decayed, missing or filled permanent teeth (DMFT) and dental anomalies. Study design: Fifty-two long term children survived leukaemia, aged from 8 to 15 years (27 females, 25 males; mean age 11.5 years) were evaluated for the possible effects of the anti-leukaemic therapy on dental development and compared to a control group of 52 healthy children (27 females, 25 males, mean age 11 years). All long-term children who survived were at least 24 months in continuous complete remission. The study of the dental status with a routine oral exami…

MaleTime FactorsAdolescentDentistryOdontologíaOral hygienestomatognathic systemMicrodontiamedicineHumansProspective StudiesSurvivorsProspective cohort studyChildGeneral DentistryPermanent teethPaediatric patientsDental anomaliesbusiness.industryDMF IndexTooth Abnormalitiespediatric dentistry child leukemia leukemia survivorsMED/28 - MALATTIE ODONTOSTOMATOLOGICHEPrecursor Cell Lymphoblastic Leukemia-Lymphoma:CIENCIAS MÉDICAS [UNESCO]medicine.diseaseCiencias de la saludDental carestomatognathic diseasesLeukemia Myeloid AcuteOtorhinolaryngologyUNESCO::CIENCIAS MÉDICASSurgeryWho criteriaFemaleResearch-ArticleOdontostomatology for the Disabled or Special Patientsbusiness
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Cross-linguistic variation in the neurophysiological response to semantic processing: Evidence from anomalies at the borderline of awareness

2014

The N400 event-related brain potential (ERP) has played a major role in the examination of how the human brain processes meaning. For current theories of the N400, classes of semantic inconsistencies which do not elicit N400 effects have proven particularly influential. Semantic anomalies that are difficult to detect are a case in point ("borderline anomalies", e.g. "After an air crash, where should the survivors be buried?"), engendering a late positive ERP response but no N400 effect in English (Sanford, Leuthold, Bohan, & Sanford, 2011). In three auditory ERP experiments, we demonstrate that this result is subject to cross-linguistic variation. In a German version of Sanford and colleagu…

Malegenetic structuresElectroencephalographyBrain mappingLate positivityDevelopmental psychologyGermanBehavioral NeuroscienceSurveys and QuestionnairesCross-linguistic differencesPsychologySemantic memoryN400Control (linguistics)Evoked PotentialsBrain Mappingmedicine.diagnostic_testBorderline anomaliesElectroencephalographyExperimental PsychologyAwarenessSemanticsVariation (linguistics)Bidirectional coding accountlanguageFemaleCognitive SciencesBottom-upPsychologypsychological phenomena and processesCognitive psychologyAdultAdolescentCognitive NeuroscienceExperimental and Cognitive PsychologySemanticsbehavioral disciplines and activitiesArticleYoung AdultClinical ResearchmedicineHumansP600Language processingShallow processingNeurosciencesLinguisticsTranslatingTop-downN400language.human_languageAcoustic StimulationNeuropsychologia
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Mortality of Children Under Five and Prevalence of Newborn Congenital Anomalies in Relation to Macroeconomic and Socioeconomic Factors in Latvia

2012

Background. Mortality of infants and children younger than 5 years is a globally recognized and broad national welfare indicator. Scientific literature has data on the correlation of mortality indicators with macroeconomic indicators. It is important to study the associations between prevalence and mortality indicators and socioeconomic factors, since deaths from congenital anomalies account for approximately 25%–30% of all deaths in infancy. The aim of the study was to analyze the overall trend in mortality of infants and young children aged 0 to 4 years in relation to macroeconomic factors in Latvia and prevalence of congenital anomalies in newborns in relation to socioeconomic factors. M…

Malemedia_common.quotation_subjectmortality of children under five; infant mortality; macroeconomic factors; congenital anomalies; correlationContext (language use)Congenital AbnormalitiesPrevalencePer capitaHumansMedicineSocioeconomic statusmedia_commonUnder-fivebusiness.industryInfant NewbornInfantGeneral MedicineLatviaInfant mortalityChild mortalitySocioeconomic FactorsChild PreschoolChild MortalityUnemploymentFemalebusinessWelfareDemographyMedicina; Volume 47; Issue 12; Pages: 98
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Minor physical anomalies in children with autism spectrum disorder.

2007

Abstract Aim To investigate the rate and topological profile of minor physical anomalies (MPAs) (prenatal errors of morphogenesis) in a group of children with Autism Spectrum Disorder (ASD), in order to better set a temporal framing of embryological factors involved in the neurodevelopmental etiology. Method A new modified Waldrop scale and a mixed approach of computerized photogrammetry and classic anthroposcopy was used to detect the presence or absence of 41 MPAs in 24 children (mean age: 7 years; sex ratio: 22M:2F) with ASD and 24 healthy comparison subjects (mean age: 7 years; sex ratio: 19M:5F) selected with DSM IV and CARS. Results We found that children with ASD presenting MPAs (n =…

Malemedicine.medical_specialtyAudiologyCongenital AbnormalitiesPregnancymental disordersmedicineHumansMinor physical anomaliesAutistic DisorderPsychiatryChildPregnancyAutism spectrum disorder Minor physical anomalies NeurodevelopmentCephalic indexfungiObstetrics and Gynecologymedicine.diseaseSettore MED/39 - Neuropsichiatria InfantileDevelopmental disorderEl NiñoAutism spectrum disorderPediatrics Perinatology and Child HealthEtiologyAutismFemalePsychology
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Anomalous origin of all three coronary arteries from right sinus of Valsalva

2016

AbstractCongenital anomalies of the coronary arteries, although uncommon, have the potential to cause serious myocardial damage, ischemic cardiomyopathy, and sudden cardiac death. We report a rare case of origin of all three coronaries from the right sinus of Valsalva.

Malemedicine.medical_specialtyRD1-811Right sinus of ValsalvaCoronary Vessel AnomaliesCase Report030204 cardiovascular system & hematologyCoronary AngiographyChest painSudden cardiac deathChest pain03 medical and health sciences0302 clinical medicineInternal medicineRare casemedicineHumansDiseases of the circulatory (Cardiovascular) systemMyocardial infarctionSinus (anatomy)Ischemic cardiomyopathybusiness.industryAnomalous origin of coronary arteriesMiddle AgedSinus of Valsalvamedicine.diseaseCoronary VesselsCoronary arteriesMyocardial infarctionmedicine.anatomical_structureRC666-701Cardiologycardiovascular systemSurgeryRadiologymedicine.symptombusinessCardiology and Cardiovascular Medicine030217 neurology & neurosurgeryIndian Heart Journal
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