RESUMEN
Type 2 diabetes mellitus (T2DM) is a complex chronic disease characterized by decreased insulin secretion and the development of insulin resistance. Previous genome-wide association studies demonstrated that single-nucleotide polymorphisms (SNPs) present in genes coding for ion channels involved in insulin secretion increase the risk of developing this disease. We determined the association of 16 SNPs found in CACNA1D, KCNQ1, KCNJ11, and CACNA1E genes and the increased probability of developing T2DM. In this work, we performed a case-control study in 301 Mexican adults, including 201 cases with diabetes and 100 controls without diabetes. Our findings indicate a moderate association between T2DM and the C allele, and the C/C genotype of rs312480 within CACNA1D. The CAG haplotype surprisingly showed a protective effect, whereas the CAC and CGG haplotypes have a strong association with T2DM. The C allele and C/C genotype of rs5219 were significantly associated with diabetes. Also, an association was observed between diabetes and the A allele and the A/A genotype of rs3753737 and rs175338 in CACNA1E. The TGG and CGA haplotypes were also found to be significantly associated. The findings of this study indicate that the SNPs examined could serve as a potential diagnostic tool and contribute to the susceptibility of the Mexican population to this disease.
Asunto(s)
Canales de Calcio Tipo L , Diabetes Mellitus Tipo 2 , Predisposición Genética a la Enfermedad , Canal de Potasio KCNQ1 , Polimorfismo de Nucleótido Simple , Canales de Potasio de Rectificación Interna , Humanos , Diabetes Mellitus Tipo 2/genética , Canales de Calcio Tipo L/genética , Canal de Potasio KCNQ1/genética , Femenino , Masculino , Canales de Potasio de Rectificación Interna/genética , Persona de Mediana Edad , Estudios de Casos y Controles , Adulto , Haplotipos , Canales de Calcio Tipo R/genética , Alelos , México , Anciano , Estudios de Asociación Genética , Genotipo , Frecuencia de los Genes , Proteínas de Transporte de CatiónRESUMEN
HIV infection is a major risk factor for tuberculosis. We describe the case of a 30-year-old male presenting with headache, compromised mental status, seizures, neck stiffness and fever that was subsequently diagnosed with HlV and neuroinfection. Clinical data, cerebrospinal fluid and brain imaging supported a diagnosis of neurotuberculosis. Cranial magnetic resonance imaging showed diffuse arachnoidal enhancement, mainly at the basal cisterns and cortical encephalitis. Such imaging findings play a key role in the diagnosis of central nervous system tuberculosis.
Asunto(s)
Aracnoiditis/etiología , Encefalitis/etiología , Seropositividad para VIH/complicaciones , Tuberculoma Intracraneal/etiología , Adulto , Humanos , MasculinoRESUMEN
La infección por VIH es uno de los mayores factores de riesgo para tuberculosis. Presentamos el caso de un paciente de 30 años que ingresó al hospital con datos neurológicos caracterizados por cefalea, alteración del alerta, crisis convulsivas, signos meníngeos y fiebre, a quien subsecuentemente se le diagnosticó VIH y neuroinfección. Los datos clínicos, el examen del líquido cefalorraquídeo y la neuroimagen sustentaron el diagnóstico de neurotuberculosis. La resonancia magnética de cráneo reveló aracnoiditis generalizada de predominio basal, así como encefalitis cortical. Los hallazgos de imagen desempeñan un papel fundamental en el diagnóstico integral de la tuberculosis del sistema nervioso central.
HIV infection is a major risk factor for tuberculosis. We describe the case of a 30-year-old male presenting with headache, compromised mental status, seizures, neck stiffness and fever that was subsequently diagnosed with HlV and neuroinfection. Clinical data, cerebrospinal fluid and brain imaging supported a diagnosis of neurotuberculosis. Cranial magnetic resonance imaging showed diffuse arachnoidal enhancement, mainly at the basal cisterns and cortical encephalitis. Such imaging findings play a key role in the diagnosis of central nervous system tuberculosis.