RESUMEN
BACKGROUND & OBJECTIVES: Organic anion transport protein 1B1 (OATP1B1) is a major transporter protein for bile salt uptake in the enterohepatic circulation of bile salts. As the role of SLCO1B1 gene (encodes OATP1B1 or liver specific transporter-1) 388 A>G polymorphism in susceptibility towards gallstone disease is unclear the prevalence of this polymorphism in healthy north Indian population was investigated. METHODS: Peripheral venous blood of 270 unrelated northern Indian patients with symptomatic gallstone disease and 270 unrelated healthy control subjects was screened for SLCO1B1 gene 388 A>G polymorphism by PCR-RFLP method and genotyping was done on 12 per cent polyacrylamide gel. The cross-sectional data on accrual of cases and controls were collected and odds ratio with 95 per cent CI calculated as for case-control design. RESULTS: Allele frequencies of 388 G were 45 per cent in gallstone cases and 44 per cent in controls with no statistical significance. Genotype frequencies in gallstone cases and controls for, genotype AA were 30 and 32 per cent; AG: 51 and 47 per cent and GG: 16 and 21 per cent respectively. No significant association of any allele or genotype with gallstone disease was found. INTERPRETATION & CONCLUSION: Although the prevalence of SLCO1B1 gene 388A>G polymorphism in north Indian population in high, yet this polymorphism does not appear to play a significant role in susceptibility to gallstone formation.
Asunto(s)
Estudios Transversales , Cálculos Biliares/epidemiología , Cálculos Biliares/genética , Frecuencia de los Genes , Predisposición Genética a la Enfermedad/genética , Genotipo , Humanos , India/epidemiología , Oportunidad Relativa , Transportadores de Anión Orgánico/genética , Polimorfismo de Longitud del Fragmento de Restricción , Polimorfismo de Nucleótido Simple/genéticaRESUMEN
Unbalanced X; autosome translocation can result in multiple congenital abnormalities/mental retardation syndrome due to chromosomal imbalance. Here is described a patient with developmental delay, microcephaly, agenesis of corpus callosum, spasticity, seizures and dysmorphism as a result of meiotic malsegregation of balanced X; autosome translocation in mother. Present case signifies the importance of chromosomal analysis in a patient with developmental delay/ mental retardation and discuss lyonization in cases with X; autosome translocation.
Asunto(s)
Encéfalo/patología , Desarrollo Infantil , Aberraciones Cromosómicas , Cromosomas Humanos X , Cuerpo Calloso/anomalías , Discapacidades del Desarrollo/diagnóstico , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Discapacidad Intelectual/genética , Microcefalia/diagnóstico , Monosomía , Translocación Genética , Inactivación del Cromosoma XRESUMEN
We report 6 cases of Kawasaki disease (KD) diagnosed over a period of one year and review of all the cases reported from India. The diagnosis of KD was based on clinical criteria The mean age of patients was 6.83 years and mean duration of symptoms before diagnosis was 7.5 days. Apart from classical clinical features, elevated transaminases and blood urea along with free fluid in abdomen was present in one case each. Two patients had dilated coronaries that returned to normal on follow up. One patient developed headache and neck stiffness following treatment with intravenous gamma globulins. The outcome was excellent in all the cases.