RESUMEN
PURPOSE: To investigate whether genetic variants in inflammation-related genes are associated with increased risk of childhood-onset febrile seizures. METHOD: Tagging single nucleotide polymorphisms (SNPs) from 19 inflammation-related candidate genes were identified and genotyped on the Sequenom platform in a sample of Caucasian childhood-onset febrile seizures cases (n=98) compared to ethnicity, age and gender matched febrile controls presenting without seizures (n=123). Tests for allelic association were carried out using PLINK. SNPs generating empirical P-values (P<0.05) were analysed in an expanded Caucasian control sample (n=2692) from the 1958 Birth Cohort. RESULTS: Six SNPs generated empirical pointwise significance values P<0.05 in the febrile seizures case-control analysis in the P2X7R (purinergic receptor P2X7), TLR4 (toll-like receptor 4), IL6R (interleukin 6 receptor) and PTGER3 (prostaglandin E receptor 3, subtype EP3) genes. The most significant result was for missense SNP rs208294 in P2X7R (P=0.009); this novel association was supported in the expanded case-control analysis using the 1958 Birth Cohort (pointwise P=0.009, OR=0.63, familywise P=0.039). CONCLUSION: Genetic variants in inflammation-related genes, specifically purinergic receptor P2X7, may be involved in susceptibility to childhood-onset febrile seizures.
Asunto(s)
Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple , Convulsiones Febriles/genética , Estudios de Casos y Controles , Estudios de Cohortes , Humanos , Estudios Prospectivos , Receptores de Interleucina-6/genética , Subtipo EP3 de Receptores de Prostaglandina E/genética , Receptores Purinérgicos P2X7/genética , Convulsiones Febriles/inmunología , Receptor Toll-Like 4/genética , Población Blanca/genéticaAsunto(s)
Infecciones Bacterianas/diagnóstico , Fiebre/diagnóstico , Tiritona/fisiología , Adolescente , Biomarcadores , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , PronósticoRESUMEN
A short cut review was carried out to establish whether the antero-lateral or antero-posterior paddle position is best at reverting acute atrial fibrillation to sinus rhythm. Altogether 954 papers were found using the reported search, of which five presented the best evidence to answer the clinical question. The author, date and country of publication, patient group studied, study type, relevant outcomes, results and study weaknesses of these best papers are tabulated. A clinical bottom line is stated.
Asunto(s)
Fibrilación Atrial/terapia , Cardioversión Eléctrica/métodos , Cardioversión Eléctrica/instrumentación , Urgencias Médicas , Medicina de Emergencia , Medicina Basada en la Evidencia , HumanosRESUMEN
A short cut review was carried out to establish whether supplemental oxygen reduces long term disability and mortality in patients attending the emergency department with stroke who do not require resuscitation. Altogether 18 papers were found using the reported search, of which one presented the best evidence to answer the clinical question. The author, date and country of publication, patient group studied, study type, relevant outcomes, results and study weaknesses of this best paper are tabulated. A clinical bottom line is stated.
