Search results for "Infant Death"

showing 10 items of 12 documents

Heterozygous nonsense SCN5A mutation W822X explains a simultaneous sudden infant death syndrome.

2008

The sudden, unexpected, and unexplained death of both members of a set of healthy twins (simultaneous sudden infant death syndrome (SSIDS)) is defined as a case in which both infants meet the definition of sudden infant death syndrome individually. A search of the world medical literature resulted in only 42 reported cases of SSIDS. We report the case of a pair of identical, male, monozygotic twins, 138 days old, who suddenly died, meeting the full criteria of SSIDS and where a genetic screen was performed, resulting in a heterozygous nonsense SCN5A mutation (W822X) in both twins. Immunohistochemistry was performed on cardiac tissue samples utilizing polyclonal antibodies anti-Na+ CP type V…

MalePathologymedicine.medical_specialtyNav1.5 protein functionv1.5 protein functionmedia_common.quotation_subject2734Nonsense mutationNonsenseNa+ channel functionMuscle ProteinsSocio-culturaleBiology+Nav1.5 protein function; Na+ channel function; SCN5A gene mutation; Simultaneous sudden infant death syndrome; W822X mutation; Codon Nonsense; Diseases in Twins; Humans; Infant; Male; Muscle Proteins; NAV1.5 Voltage-Gated Sodium Channel; Sodium Channels; Sudden Infant Death; 2734Sudden deathSodium ChannelsNAV1.5 Voltage-Gated Sodium ChannelPathology and Forensic MedicinePathogenesisSCN5A gene mutationDiseases in TwinsmedicineHumansSimultaneous sudden infant death syndromeSCN5A gene mutationW822X mutationNa+ channel functionNav1.5 protein functionNaSimultaneous sudden infant death syndrome SCN5A gene mutation W822X mutation Na+ channel function Nav1.5 protein function CodonMolecular BiologyCellular localizationmedia_commonSimultaneous sudden infant death syndromeSettore BIO/16 - Anatomia UmanaSimultaneous sudden infant death syndrome SCN5A gene mutation W822X mutation Na+ channel function Nav1.5 protein functionW822X mutationInfantCell BiologyGeneral MedicineSudden infant death syndromeNonsenseTerminal deoxynucleotidyl transferaseCodon NonsenseImmunohistochemistryNa; v; 1.5 protein function; Na; +; channel function; SCN5A gene mutation; Simultaneous sudden infant death syndrome; W822X mutationchannel functionSudden Infant Death
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Aplicación de la clasificación de San Diego en el estudio médico-legal de la Muerte Súbita del Lactante

2020

INTRODUCCIÓN La Muerte Súbita del Lactante (MSL) representa un problema universal y grave. El Síndrome de Muerte Súbita del Lactante (SMSL) es la primera causa de muerte en lactantes durante el primer año de vida en países desarrollados y se define como la muerte súbita e inesperada de un lactante, que ocurre durante el sueño y permanece inexplicada tras la realización de una completa investigación postmortem (autopsia con análisis complementarios, examen del lugar de la muerte y revisión de la historia clínica). De esta definición se desprende la clasificación de San Diego basada en las categorías IA, IB y II. Tiene una patogénesis compleja y heterogénea, siendo la teoría del triple riesgo…

sudden infant death syndromeSUDIasphyxiasleeping environmentprone sleep position:CIENCIAS MÉDICAS [UNESCO]overlayingco-sleepingdeath scene investigationautopsyUNESCO::CIENCIAS MÉDICASSIDSrisk factorsbed sharingSUIDaccidental suffocation and strangulation in bed (ASSB)
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Sudden infant death caused by a ruptured coronary aneurysm during acute phase of atypical Kawasaki disease

2001

This article describe's a case of atypical Kawasaki disease (AKD) with lack of typical clinical signs and rapid fatal course in a 2-month-old infant, who 1 week before hospitalization demonstrated rhinitis, coughing without fever, and later conjunctival hyperemia and allergic exanthema on chest and arms. On admittance, labwork highlighted the following: leukocytosis, thrombocytosis, elevated sedimentation rate, and positive C-reactive protein. General conditions remained mediocre for 7 days until sudden death occurred. The autopsy confirmed death caused by cardiac tamponade caused by a ruptured inflammated aneurysm of the left anterior descending coronary artery. We believe that the current…

Malemedicine.medical_specialtyThrombocytosisbusiness.industryVascular diseaseCoronary AneurysmInfantAutopsyMucocutaneous Lymph Node Syndromemedicine.diseaseSudden deathPathology and Forensic MedicineSurgeryFatal OutcomeCardiac tamponadeAcute DiseasemedicineHumansKawasaki diseaseLeukocytosismedicine.symptombusinessComplicationSudden Infant DeathHuman Pathology
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Utility of post mortem MRI in definition of thrombus in aneurismatic coronary arteries due to incomplete Kawasaki Disease in infants

2016

Abstract Kawasaki disease (KD) is an acute, self-limited vasculitis of unknown etiology that primarily affects the coronary artery (CA) and presents in childhood. The characteristic coronary arterial lesion is an aneurysm, which may lead to thrombosis, dilatation, stenosis, and occlusion. Such an aneurysm is typically calcified and generally develops five or more years after the onset of acute KD. It becomes more noticeable after ten years. KD is sometimes difficult to diagnose because of the limited clinical features, especially in infants younger than 6 months old, where the clinical presentations often do not fulfill the diagnostic criteria for KD. We report a case of Incomplete Kawasaki…

medicine.medical_specialtyRadiology Nuclear Medicine and Imaging2734Aneurismatic coronary arterieAutopsy030204 cardiovascular system & hematology030218 nuclear medicine & medical imagingPathology and Forensic MedicineForensic pathology03 medical and health sciences0302 clinical medicineAneurysmIncomplete Kawasaki diseaseInternal medicinemedicinePost-mortem MRIThrombusbusiness.industrymedicine.diseaseThrombosisCoronary arteriesStenosismedicine.anatomical_structureSudden infant deathThrombosiCardiologyKawasaki diseasebusinessVasculitis
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Clinical experience of a tricomponent acellular pertussis vaccine combined with diphtheria and tetanus toxoids for primary vaccination in 22,505 infa…

1996

Abstract OBJECTIVES: To assess the safety and tolerability of 12 lots of SmithKline Beecham Biologicals' diphtheria-tetanus-tricomponent acellular pertussis vaccine (DTaP) in a large cohort of 22,000 vaccinees, with detailed analyses of reactivity, immunogenicity, and immune response to pertussis toxin in subsets. METHODS: In a prospective, double-blind, multicenter trial in Germany, 22,505 healthy infants received three vaccinations of DTaP at age 3, 4, and 5 months. Serious adverse events were followed for 1 month after each vaccination, and neurologic events for 1 year or longer. Serum IgG antibodies were assayed before vaccination and 1 month after vaccination. RESULTS: After 67,000 dos…

Pediatricsmedicine.medical_specialtyFeverFilamentous haemagglutinin adhesinDouble-Blind MethodSeizuresGermanyMedicineHumansProspective StudiesAdverse effectWhooping coughDiphtheria-Tetanus-Pertussis VaccineEpilepsybusiness.industryTetanusDiphtheriaIncidenceInfantSudden infant death syndromemedicine.diseaseVaccinationPediatrics Perinatology and Child HealthImmunologyPertactinbusinessSpasms InfantileSudden Infant DeathThe Journal of pediatrics
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B. Zinka et al., Unexplained cases of sudden infant death shortly after hexavalent vaccination

2006

MalePediatricsmedicine.medical_specialtyddc:618General VeterinaryGeneral Immunology and Microbiologybusiness.industryPublic Health Environmental and Occupational HealthInfantVaccination/adverse effectsddc:616.07Diphtheria-Tetanus-acellular Pertussis Vaccines/adverse effectsVaccinationPoliovirus Vaccine InactivatedInfectious DiseasesSudden Infant Death/blood/epidemiologyVaccines Combined/adverse effectsmedicineHumansMolecular MedicineFemaleHepatitis B VaccinesbusinessDiphtheria-Tetanus-Pertussis VaccineSudden infant deathVaccine
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Declining Incidence of Infantile Hypertrophic Stenosis (IHPS) in Germany 2000-2008

2011

Background: The incidencce of infantile hypertrophic pyloric stenosis (IHPS) is highly variable over time and regionally different. There have been reports of declining incidence in Sweden, the US, Denmark and Scotland. In Sweden, the decline observed was parallel to the declining incidence of Sudden Infant Death Syndrome (SIDS) and was attributed to campaigns against prone sleeping position.

Pediatricsmedicine.medical_specialtyProne sleepingbusiness.industryIncidence (epidemiology)Pediatric researchSudden infant death syndromePediatrics Perinatology and Child HealthEpidemiologymedicineNeonatologyHypertrophic stenosisbusinessHypertrophic Pyloric StenosisPediatric Research
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Territorial Differences in Infant Mortality in Latvia in the First Decade of the Third Millennium

2015

Objective: Infant and child mortality are some of the most substantial indicators of country welfare. Infant mortality (IM) in Latvia is constantly the highest among 25 Member States of the European Union. Since the regaining of independence in 1991, IM has decreased by almost 50%, however, it is still high enough to cause concern that the country will not be able to meet the UN Millennium Development Goals to decrease IM in Latvia by 2015. The Medical Faculty at the University of Latvia has conducted several studies identifying correlations between IM and GDP, total expenditure on health, unemployment and GINI coefficient. It is necessary to identify all IM causes and relationships which h…

AdultPediatricsmedicine.medical_specialtyPopulationRural HealthYoung AdultInfant MortalitymedicineHumansmedia_common.cataloged_instanceRegistriesEuropean unioneducationmedia_commoneducation.field_of_studyInfant NewbornUrban HealthPublic Health Environmental and Occupational HealthInfantGeneral MedicineMillennium Development GoalsSudden infant death syndromeLatviaInfant mortalityEuropeChild mortalityGeographyFemaleResidenceRural areaDemographyCentral European Journal of Public Health
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Possible association of sudden infant death with partial complement C4 deficiency revealed by post-mortem DNA typing of HLA class II and III genes

1989

Based on evidence of an increased rate of respiratory infections in sudden infant death (SID) infants as well as the observation of familial occurrence, we analysed in a retrospective study class II and class II genes of the major histocompatibility complex in 40 cases of SID by Southern blot analysis of DNA obtained post mortem from tissue samples. In 24 cases, the parents were interviewed and confirmatory human lymphocyte antigen (HLA) and DNA typing was carried out. Using HLA-DR beta and -DQ beta probes, no evidence of an abnormal HLA-DR frequency distribution in SID infants was detected (P = 0.97). Using DNA probes for the tandemly arranged complement C4 and steroid 21-hydroxylase genes…

biologyHybridization probeGermany WestInfantComplement C4HLA-DR AntigensHuman leukocyte antigenMajor histocompatibility complexSudden deathVirologyRisk FactorsPediatrics Perinatology and Child HealthImmunologyHLA-DRbiology.proteinHumansTypingRespiratory Tract InfectionsGeneSudden Infant DeathRetrospective StudiesSouthern blotEuropean Journal of Pediatrics
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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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