Search results for " Sudden"

showing 10 items of 80 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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Sudden death in adolescence caused by cardiac haemangioma

2009

Primary tumors of the heart in infants and children are rare. The types of heart tumors in pediatric age groups are generally different from those in adults. Cardiac myxoma is by far the most common tumor in adults, but in infants and adolescents the prevalent tumor of the heart is rhabdomyoma. Among benign cardiac tumors, cardiac hemangiomas are rare and often diagnosed post-mortem due to the lack of specific clinical symptoms and signs. We report a case of sudden death due to cardiac hemangioma in an apparently healthy 15-year-old adolescent. The autopsy revealed a cardiac hemangioma located at the apex of the heart; the histopathological examination showed the tumor was a mixed capillary…

MalePathologymedicine.medical_specialtyPrimary tumors of the heartAdolescentAutopsyRhabdomyomaSettore MED/08 - Anatomia PatologicaSudden death cardiac haemangiomaSudden deathPathology and Forensic MedicineHemangiomaHeart NeoplasmsDeath SuddenSettore MED/43 - Medicina LegalemedicineHumanscardiovascular diseasesHemangioma CapillaryForensic Pathologybusiness.industryMyocardiumCardiac hemangiomaMyxomaGeneral Medicinemedicine.diseasePrimary tumorcardiovascular systembusinessLaw
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Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.

2004

International audience; Thoracic aortic aneurysm and aortic dissection (TAA and AD) are an important cause of sudden death. Familial cases could account for 20% of all cases. A genetic heterogeneity with two identified genes (FBN1 and COL3A1) and three loci (3p24-25 or MFS2/TAAD2, 5q13-q14 and 11q23.2-24) has been shown previously. Study of a single family composed of 179 members with an abnormally high occurrence of TAA/AD disease. A total of 40 subjects from three generations were investigated. In addition to five cases of stroke and three cases of sudden death, there were four cases of AD and four cases of TAA in adults. In all, 11 cases of patent ductus arteriosus (PDA) were observed, t…

MalePathologymedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesGenetic Linkage030204 cardiovascular system & hematologyThoracic aortic aneurysmSudden deathFamilial thoracic aortic aneurysm03 medical and health sciencesAortic aneurysmDeath Sudden0302 clinical medicineDuctus arteriosusGenetic modelGeneticsmedicine[INFO.INFO-IM]Computer Science [cs]/Medical ImagingHumansDuctus Arteriosus PatentGenetics (clinical)030304 developmental biologyAortic dissection0303 health sciences[ INFO.INFO-IM ] Computer Science [cs]/Medical ImagingAortic Aneurysm ThoracicGenetic heterogeneitybusiness.industryAnatomymedicine.disease3. Good healthPedigreeStrokeAortic Dissectionmedicine.anatomical_structureFemaleFrancebusinessMicrosatellite RepeatsEuropean journal of human genetics : EJHG
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Association between ideal cardiovascular health and risk of sudden cardiac death and all-cause mortality among middle-aged men in Finland.

2020

Abstract Background Strong associations have been demonstrated between the American Heart Association’s cardiovascular health (CVH) metrics and various cardiovascular outcomes, but the association with sudden cardiac death (SCD) is uncertain. We examined the associations between these CVH metrics and the risks of SCD and all-cause mortality among men in Finland. Methods and results We used the prospective population-based Kuopio Ischaemic Heart Disease cohort study, which consists of men between 42 and 60 years of age at baseline. CVH metrics were computed for 2577 men with CVH scores at baseline ranging from 0 to 7, categorized into CVH scores of 0–2 (poor), 3–4 (intermediate) and 5–7 (ide…

MalePediatricsmedicine.medical_specialtyEpidemiologyCardiovascular healthHealth Status030204 cardiovascular system & hematologySudden cardiac deathCohort Studies03 medical and health sciences0302 clinical medicineRisk FactorsmedicineHumans030212 general & internal medicineMiddle-aged adultProspective StudiesAssociation (psychology)FinlandIdeal (set theory)business.industryMiddle Agedmedicine.diseaseUnited StatesDeath Sudden CardiacCardiovascular DiseasesCardiology and Cardiovascular MedicinebusinessCardiovascular outcomesAll cause mortalityEuropean journal of preventive cardiology
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Trends in modes of death in heart failure over the last two decades: less sudden death but cancer deaths on the rise.

2019

AIMS Better management of heart failure (HF) over the past two decades has improved survival, mainly by reducing the incidence of death due to cardiovascular (CV) causes. Deaths due to non-CV causes, particularly cancer, may be increasing. This study explored the modes of death of consecutive patients who attended a HF clinic over 17 years. METHODS AND RESULTS A total of 935 deaths were ascertained from 2002 to 2018 among 1876 patients (mean age 65.8 ± 12.5 years, 75% men, left ventricular ejection fraction < 50%) admitted to our HF clinic. Median follow-up was 4.2 years [1.9-7.8]. Mode of death was curated from patient health records and verified by the Catalan and Spanish health system da…

MalePediatricsmedicine.medical_specialtyManagement of heart failure030204 cardiovascular system & hematologyHealth recordsSudden death03 medical and health sciencesDeath Sudden0302 clinical medicineNeoplasmsmedicineHumansLongitudinal StudiesMortalityLung cancerAgedHeart FailureEjection fractionbusiness.industryIncidence (epidemiology)CancerMiddle Agedmedicine.diseaseSpainHeart failureFemaleCardiology and Cardiovascular MedicinebusinessEuropean journal of heart failureReferences
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Combined Effect of Sauna Bathing and Cardiorespiratory Fitness on the Risk of Sudden Cardiac Deaths in Caucasian Men: A Long-term Prospective Cohort …

2018

Both cardiorespiratory fitness (CRF) and frequency of sauna bathing (FSB) are each strongly and independently associated with sudden cardiac death (SCD) risk. However, the combined effect of CRF and FSB on SCD risk has not been previously investigated. We evaluated the joint impact of CRF and FSB on the risk of SCD in the Kuopio Ischemic Heart Disease prospective cohort study of 2291 men aged 42-61 years at recruitment. Objectively measured CRF and self-reported sauna bathing habits were assessed at baseline. CRF was categorized as low and high (median cutoffs) and FSB as low and high (defined as ≤2 and 3-7 sessions/week respectively). Multivariable adjusted hazard ratios (HRs) with confide…

MalePhysical fitness030204 cardiovascular system & hematologySudden cardiac deathCohort Studies0302 clinical medicineMedicineProspective Studiesäkkikuolema030212 general & internal medicineProspective cohort studyFinlandcardiorespiratory fitnessheart diseasesIncidenceHazard ratioAge FactorsVO2 maxta3142Middle Agedfyysinen kuntoCardiovascular Diseasesaerobinen suorituskykyCardiology and Cardiovascular MedicineCohort studyAdultsaunamedicine.medical_specialtysaunominenRisk AssessmentWhite Peoplesudden cardiac deathSteam Bath03 medical and health sciencesInternal medicineHumansAerobic exercisesydäntauditCardiorespiratory fitnessExercisebusiness.industryCardiorespiratory fitnessmedicine.diseasesauna bathingaerobic capacitySudden cardiac deathDeath Sudden Cardiacphysical fitnessSaunabusinessProgress in Cardiovascular Diseases
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Outcomes of Patients With Asymptomatic Aortic Stenosis Followed Up in Heart Valve Clinics

2018

International audience; Importance - The natural history and the management of patients with asymptomatic aortic stenosis (AS) have not been fully examined in the current era. Objective - To determine the clinical outcomes of patients with asymptomatic AS using data from the Heart Valve Clinic International Database. Design, setting, and participants - This registry was assembled by merging data from prospectively gathered institutional databases from 10 heart valve clinics in Europe, Canada, and the United States. Asymptomatic patients with an aortic valve area of 1.5 cm2 or less and preserved left ventricular ejection fraction (LVEF) greater than 50% at entry were considered for the prese…

MaleRegistrieUnited StateCanadamedicine.medical_specialty030204 cardiovascular system & hematologyAsymptomaticSudden deathDisease-Free Survival03 medical and health sciences0302 clinical medicineAortic valve replacementRetrospective StudieInternal medicinemedicineHumansProspective StudiesRegistries030212 general & internal medicineHeart valveWatchful WaitingProspective cohort studyRetrospective StudiesAgedAged 80 and overAsymptomatic DiseaseEjection fractionbusiness.industryDisease ManagementAortic Valve StenosisMiddle Agedmedicine.diseaseAortic Valve StenosiUnited States3. Good healthEuropeProspective StudieStenosisDeath Sudden Cardiacmedicine.anatomical_structureAortic valve stenosisAsymptomatic DiseasesCardiology[SDV.IB]Life Sciences [q-bio]/BioengineeringFemalemedicine.symptombusinessCardiology and Cardiovascular MedicineHuman
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Activated thrombin activatable fibrinolysis inhibitor levels are associated with the risk of cardiovascular death in patients with coronary artery di…

2008

Summary. Background: Thrombin activatable fibrinolysis inhibitor (TAFI) attenuates fibrinolysis. Results on the association between TAFI levels and the risk of coronary artery disease (CAD) are inconsistent. Objectives: We investigated the association between TAFI levels and the risk of cardiovascular events in CAD. Patients/Methods: 1668 individuals with angiographically proven CAD at baseline were followed for a median of 2.3 years, as part of the prospective AtheroGene cohort. Fifty-six deaths from cardiovascular (CV) causes and 35 non-fatal CV events were observed. Results: At baseline, three TAFI measurements were available: one evaluating the total amount of TAFI (t-TAFI), one measuri…

MaleRiskCarboxypeptidase B2medicine.medical_specialtymedicine.medical_treatmentCoronary Artery DiseaseCoronary artery diseaseRisk FactorsInternal medicineFibrinolysismedicineHumansMyocardial infarctionAgedProportional Hazards Modelsbusiness.industryUnstable anginaProportional hazards modelHazard ratioHematologyMiddle Agedmedicine.diseaseCarboxypeptidase BDeath Sudden CardiacCohortCardiologyFemalebusinessProtein Cmedicine.drugJournal of Thrombosis and Haemostasis
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Sudden sensorineural hearing loss: is there a relationship between routine haematological parameters and audiogram shapes?

2016

Objective: To investigate the relationship between haematological routine parameters and audiogram shapes in patients affected by sudden sensorineural hearing loss (SSNHL). Design: A retrospective study. All patients were divided into four groups according to the audiometric curve and mean values of haematological parameters (haemoglobin, white blood cell, neutrophils and lymphocytes relative count, platelet count, haematocrit, prothrombin time, activated partial thromboplastin time, fibrinogen and neutrophil-to-lymphocite ratio) of each group were statistically compared. The prognostic role of blood profile and coagulation test was also examined. Study sample: A cohort of 183 SSNHL patient…

MaleTime FactorsNeutrophilshaematological parameterAudiologyLanguage and LinguisticsHemoglobinsLeukocyte Count0302 clinical medicineHearingLymphocytes030223 otorhinolaryngologyHematologic Testsmedicine.diagnostic_testComplete blood countAudiogramSudden sensorineural hearing lossMiddle AgedSettore MED/32 - AudiologiaTreatment OutcomeSettore MED/31 - Otorinolaringoiatriamedicine.anatomical_structureHematocrit030220 oncology & carcinogenesisCohortAudiometry Pure-ToneFemalePartial Thromboplastin TimeSteroidsmedicine.symptomPartial thromboplastin timeAdultBlood PlateletsLinguistics and Languagemedicine.medical_specialtyHearing lossHearing Loss Sensorineural03 medical and health sciencesSpeech and HearingAudiogram shapePredictive Value of TestsWhite blood cellmedicineHumansBlood CoagulationRetrospective StudiesProthrombin timePlatelet Countbusiness.industryFibrinogenAuditory ThresholdRetrospective cohort studyRecovery of FunctionHearing Loss Suddenaudiogram shape; haematological parameters; Sudden sensorineural hearing lossProthrombin TimebusinessBiomarkersInternational Journal of Audiology
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A bio-clinical approach for prediction of sudden cardiac death in outpatients with heart failure: The ST2-SCD score

2019

Sudden cardiac death (SCD) is one of the main modes of death in heart failure (HF) patients and its prediction remains a real challenge. Our aim was to assess the incidence of SCD at 5 years HF contemporary managed outpatients, and to find a simple prediction model for SCD.SCD was considered any unexpected death, witnessed or not, occurring in a previously stable patient with no evidence of worsening HF or any other cause of death. A competing risk strategy was adopted using the Fine-Gray method of Cox regressions analyses that considered other causes of death as the competing event.The derivation cohort included 744 consecutive outpatients (72% men, age 67.9 ± 12.2 years, left ventricular …

Malemedicine.medical_specialty030204 cardiovascular system & hematologySudden deathSudden cardiac deathCohort Studies03 medical and health sciences0302 clinical medicinePredictive Value of TestsRisk FactorsInternal medicineAmbulatory CaremedicineHumanscardiovascular diseases030212 general & internal medicineAgedCause of deathAged 80 and overHeart FailureUnivariate analysisEjection fractionTroponin Tbusiness.industryIncidence (epidemiology)Middle Agedmedicine.diseaseDeath Sudden CardiacHeart failureCardiologyFemaleCardiology and Cardiovascular MedicinebusinessBiomarkersFollow-Up StudiesInternational Journal of Cardiology
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