Familial Mediterranean Fever is a hereditary inflammatory disease of predominantly autosomal recessive
inheritance, produced by mutations in the MEFV gene that is found on the short arm of chromosome 16,
characterized by recurrent episodes of fever accompanied by peritonitis, pleuritis, arthritis or erys...
Resumen: Introducción: Las anomalías congénitas del riñón y del tracto urinario se originan de alteraciones genéticas, en su mayoría desconocidas. Las mutaciones en el gen que codifica para el factor hepatocitario nuclear 1B (HNF1B), son la causa monogénica más frecuentemente descrita. Se desc...
Objetivo. Determinar la frecuencia de mutaciones del gen MEFV en niños con diagnóstico de púrpura de Schonlein-Henoch y evaluar el efecto que tienen en el pronóstico. Materiales y métodos. Estudio transversal que incluyeron pacientes pediátricos de entre 2 y 11 años, con diagnóstico de púrpura d...
Corticoesteroides/administración & dosificación,
Heterocigoto,
Mutación,
Pronóstico,
Vasculitis por IgA/tratamiento farmacológico,
Vasculitis por IgA/genética,
Vasculitis por IgA/fisiopatología,
Pirina/genética,
Recurrencia,
Turquía,
Estudios de Seguimiento,
Estudios Transversales
Summary Objective: To evaluate the carotid intima-media complex (CIMC) thickness and lipid metabolism biomarkers associated with cardiovascular risk (CR) in parents of patients with ataxia-telangiectasia and verify an association with gender. Method: A cross-sectional and controlled study with 29 ATM h...
Ataxia Telangiectasia/sangre,
Ataxia Telangiectasia/genética,
Biomarcadores/sangre,
Proteína C-Reactiva/análisis,
Enfermedades Cardiovasculares/diagnóstico,
Arterias Carótidas,
Grosor Intima-Media Carotídeo,
Estudios de Casos y Controles,
HDL-Colesterol/sangre,
Estudios Transversales,
Heterocigoto,
Persona de Mediana Edad,
Estado Nutricional,
Padres,
Medición de Riesgo,
Factores de Riesgo,
Factores Sexuales
The aim of this study was to find related pathogenic genes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in (CADASIL)-like patients. The direct sequencing and high-throughput multiplex polymerase chain reaction (PCR) was performed to screen for related gene...
Abstract Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disease caused by mutations in genes encoding sarcomere proteins. It is the major cause of sudden cardiac death in young high-level athletes. Studies have demonstrated a poorer prognosis when associated with specific mutations. T...
Summary Objective: To evaluate the levels of glycated hemoglobin (HbA1c) in patients heterozygous for hemoglobin variants and compare the results of this test with those of a control group. Method: This was an experimental study based on the comparison of HbA1c tests in two different populations, with ...
Bilirrubina/sangre,
Glucemia/análisis,
Estudios de Casos y Controles,
Cromatografía Líquida de Alta Presión,
Ayuno,
Hemoglobina Glucada/análisis,
Hemoglobina Glucada/genética,
Hemoglobinas Anormales/análisis,
Hemoglobinas Anormales/genética,
Heterocigoto,
Valores de Referencia,
Triglicéridos/sangre,
Urea/sangre
Abstract Compound heterozygosity has been described in inherited arrhythmias, and usually associated with a more severe phenotype. Reports of this occurrence in Brugada syndrome patients are still rare. We report a study of genotype-phenotype correlation after the identification of new variants by geneti...
Aleteo Atrial/genética,
Aleteo Atrial/fisiopatología,
Síndrome de Brugada/genética,
Síndrome de Brugada/fisiopatología,
Electrocardiografía,
Predisposición Genética a la Enfermedad,
Heterocigoto,
Mutación,
Canal de Sodio Activado por Voltaje NAV1.5/genética,
Linaje,
Fenotipo,
Índice de Severidad de la Enfermedad
BACKGROUND: Obsessive-compulsive disorder (OCD) is a severe neuropsychiatric condition affecting 1-3% of the worldwide population. OCD has a strong genetic component, and the SLC1A1 gene that encodes neuronal glutamate transporter EAAT3 is a strong candidate for this disorder. To evaluate the impact of r...
