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1.
J Am Coll Cardiol ; 73(24): 3118-3131, 2019 06 25.
Artigo em Inglês | MEDLINE | ID: mdl-31221261

RESUMO

BACKGROUND: Subclinical changes on the electrocardiogram are risk factors for cardiovascular mortality. Recognition and knowledge of electrolyte associations in cardiac electrophysiology are based on only in vitro models and observations in patients with severe medical conditions. OBJECTIVES: This study sought to investigate associations between serum electrolyte concentrations and changes in cardiac electrophysiology in the general population. METHODS: Summary results collected from 153,014 individuals (54.4% women; mean age 55.1 ± 12.1 years) from 33 studies (of 5 ancestries) were meta-analyzed. Linear regression analyses examining associations between electrolyte concentrations (mmol/l of calcium, potassium, sodium, and magnesium), and electrocardiographic intervals (RR, QT, QRS, JT, and PR intervals) were performed. The study adjusted for potential confounders and also stratified by ancestry, sex, and use of antihypertensive drugs. RESULTS: Lower calcium was associated with longer QT intervals (-11.5 ms; 99.75% confidence interval [CI]: -13.7 to -9.3) and JT duration, with sex-specific effects. In contrast, higher magnesium was associated with longer QT intervals (7.2 ms; 99.75% CI: 1.3 to 13.1) and JT. Lower potassium was associated with longer QT intervals (-2.8 ms; 99.75% CI: -3.5 to -2.0), JT, QRS, and PR durations, but all potassium associations were driven by use of antihypertensive drugs. No physiologically relevant associations were observed for sodium or RR intervals. CONCLUSIONS: The study identified physiologically relevant associations between electrolytes and electrocardiographic intervals in a large-scale analysis combining cohorts from different settings. The results provide insights for further cardiac electrophysiology research and could potentially influence clinical practice, especially the association between calcium and QT duration, by which calcium levels at the bottom 2% of the population distribution led to clinically relevant QT prolongation by >5 ms.


Assuntos
Cálcio/sangue , Doenças Cardiovasculares , Eletrocardiografia/métodos , Técnicas Eletrofisiológicas Cardíacas/métodos , Magnésio/sangue , Potássio/sangue , Doenças Assintomáticas/epidemiologia , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/fisiopatologia , Correlação de Dados , Feminino , Sistema de Condução Cardíaco/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco
2.
J Mol Neurosci ; 39(3): 346-53, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19757205

RESUMO

Familial idiopathic basal ganglia calcification (FIBGC) is an inherited neurodegenerative disorder characterized by the accumulation of calcium deposits in different brain regions, particularly in the basal ganglia. FIBGC usually follows an autosomal dominant pattern of inheritance. Despite the mapping to chromosome 14q of a susceptibility locus for IBGC (IBCG1) in one family, this locus has been excluded in several others, demonstrating genetic heterogeneity in this disorder. The etiology of this disorder thus remains largely unknown. Using a large extended multigenerational Italian family from South Tyrol with 17 affected in a total of 56 members, we performed a genome-wide linkage analysis in which we were able to exclude linkage to the IBCG1 locus on chromosome 14q and obtain evidence of a novel locus on chromosome 2q37. Electronic supplementary material. The online version of this article (doi:10.1007/s12031-009-9287-3) contains supplementary material, which is available to authorized users.


Assuntos
Doenças dos Gânglios da Base/genética , Calcinose/genética , Cromossomos Humanos Par 2/genética , Loci Gênicos/genética , Predisposição Genética para Doença/genética , Mutação/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Gânglios da Base/metabolismo , Gânglios da Base/patologia , Gânglios da Base/fisiopatologia , Doenças dos Gânglios da Base/metabolismo , Doenças dos Gânglios da Base/fisiopatologia , Calcinose/metabolismo , Calcinose/fisiopatologia , Transtornos Cromossômicos/genética , Mapeamento Cromossômico , Cromossomos Humanos Par 14/genética , Análise Mutacional de DNA , Feminino , Genes Dominantes/genética , Ligação Genética/genética , Marcadores Genéticos/genética , Testes Genéticos , Variação Genética/genética , Humanos , Padrões de Herança/genética , Itália , Masculino , Pessoa de Meia-Idade , Linhagem
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