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1.
Neurol India ; 2006 Sep; 54(3): 310-1
Artículo en Inglés | IMSEAR | ID: sea-120084

RESUMEN

The most common genetic neuromuscular disease of childhood, Duchenne and Becker muscular dystrophy (DMD/BMD) is caused by deletion, duplication or point mutation of the dystrophin gene located at Xp 21.2. In the present study DNA from seventy unrelated patients clinically diagnosed as having DMD/BMD referred from different parts of West Bengal, a few other states and Bangladesh are analyzed using the multiplex polymerase chain reaction (m-PCR) to screen for exon deletions and its distribution within the dystrophin gene. Out of seventy patients forty six (63%) showed large intragenic deletion in the dystrophin gene. About 79% of these deletions are located in the hot spot region i.e, between exon 42 to 53. This is the first report of frequency and distribution of deletion in dystrophin gene in eastern Indian DMD/BMD population.


Asunto(s)
Edad de Inicio , Distrofina/genética , Exones , Femenino , Eliminación de Gen , Humanos , India/epidemiología , Masculino , Distrofia Muscular de Duchenne/epidemiología , Reacción en Cadena de la Polimerasa/métodos , ARN Mensajero/metabolismo
2.
J Indian Med Assoc ; 2005 Dec; 103(12): 665-8
Artículo en Inglés | IMSEAR | ID: sea-105978

RESUMEN

This was a retrospective analysis of 7-year (January 1995-December 2001) hospital-based in-patient medical records of stroke cases (subarachnoid haemorrhage excluded) who arrived from various parts of West Bengal. The total number of cases was 801 out of whom 792 had neuro-imaging. There were 399 caes of intracerebral haemorrhage (ICH) and 393 cases of cerebral infarct (CI). The CI: ICH ratio was 0.98. Less than 25% patients reached hospital within 3 hours of stroke onset. Twenty-nine per cent of cases presented with mild stroke (Canadian stroke score > 8.5). Hypertension was observed in 77.3% of ICH cases. The striking finding of this study was a remarkably high number of ICH among the admitted patients. This indicates the need of population-based studies to be conducted at different parts of West Bengal to determine whether them is truly a high prevalence and incidence of ICH in this Indian state.


Asunto(s)
Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Hemorragia Cerebral/epidemiología , Infarto Cerebral/epidemiología , Niño , Femenino , Hospitales Especializados/estadística & datos numéricos , Humanos , Incidencia , India/epidemiología , Masculino , Registros Médicos , Persona de Mediana Edad , Prevalencia , Sistema de Registros , Estudios Retrospectivos , Accidente Cerebrovascular/clasificación
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