Search results for " Congenital abnormalities"

showing 6 items of 6 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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Congenital pelvic skeletal anomalies: Clinical and radiographic evaluation of newborns with gastrointestinal malformation

2020

Abstract Background Congenital pelvic skeletal anomalies (CPSA) may appear as isolated defects or in association with other anomalies like congenital malformations of the digestive system (CMDS). Minor CPSA in non-syndromic patients are often overlooked. We aimed to assess the frequency of CPSA in newborns with CMDS to review the diagnostic approaches. Study design A retrospective review of medical records of 201 newborns who underwent X-rays for different neonatal indications was conducted. In 122 patients CMDS were diagnosed and classified according to the ICD-10 classification; 79 non-CMDS patients acted as controls. Pelvic skeletal segments were examined by X-rays. Results Patients with…

AdultMalePediatricsmedicine.medical_specialtySkeletal anomaliesRadiographyPelvic bones Musculoskeletal system Congenital abnormalities VACTERL association Radiography International classification of diseasesInfant Newborn DiseasesPelvismedicineHumansbusiness.industryIncidenceMedical recordInfant NewbornObstetrics and GynecologyOdds ratiomedicine.diseaseVACTERL associationHypoplasiaMusculoskeletal AbnormalitiesRadiographyAgenesisPediatrics Perinatology and Child HealthFemaleHigh incidencebusinessDigestive System Abnormalities
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Fraser syndrome: epidemiological study in a European population

2013

Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12, 886, 464 births (minimal estimated prevalence of 0.20 per 100, 000 or 1:495, 633 births). Most cases (18/26 ; 69%) were registered in the western part of Europe, where the mean prevalence is 1 in 230, 695 births, compared to the prevalence 1 in 1, 091, 175 fo…

CryptophthalmosMalemedicine.medical_specialtyEpidemiologyAnorectal anomaliesPopulationprevalencePrevalencePrenatal diagnosisinduced abortionCongenital abnormalitiesPregnancyInduced abortionGeneticsPrevalenceMedicineHumansCRITERIASyndactylyRegistriesPRENATAL-DIAGNOSISeducationFraser syndromeRenal agenesisGenetics (clinical)education.field_of_studycongenital abnormalitiesprenatal diagnosisFraser syndrome; epidemiology; prevalence; congenital abnormalities; prenatal diagnosis; induced abortionbusiness.industryObstetricsMUTATIONSInfant Newbornmedicine.diseaseBilateral Renal AgenesisEuropeEpidemiologic StudiesCRYPTOPHTHALMOSFemaleepidemiologyFraser syndromebusiness
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A rare unbalanced translocation 1;18 in a child with epilepsy, mild dysmorphology and mental retardation

2012

Intellectual disability Congenital abnormalities Translocation geneticSettore MED/39 - Neuropsichiatria Infantile
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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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congenital true cystic mass of the pancreas in a Young woman: which treatment?

2013

Aim. We report a case of congenital true pancreatic cyst with high level of enzymatic activity, rarely seen in young and children which, to the best of our knowledge, rarely has previously been reported. A young girl was admitted to our clinic with a history of abdominal swelling and pain during exercise for many months. A mobile, smooth, non-tender mass was palpated on the left side of the abdomen during physical examination. Ultrasonography and computed tomography imaging revealed a not subdivide cystic mass sized 11.51x8.2 cm. Methods. Surgical treatment was considered, but given the young age of the patient, we declined for fear of complications. Therefore, US-guided percutaneous draina…

pancreatic neoplasms congenital abnormalities cysts ultrasonography
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