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1.
Malaysian Journal of Medical Sciences ; : 79-82, 2014.
Artículo en Inglés | WPRIM | ID: wpr-628269

RESUMEN

A young man was admitted with sudden onset of right-sided weakness. He was assessed in the emergency department, and an immediate computed tomography (CT) perfusion study of the brain was arranged, which showed a left middle cerebral artery territory infarct with occlusion of the M1 segment. There was a significant penumbra measuring approximately 50% of the arterial territory. By the time his assessment was completed, it was 5.5 hours from the onset of symptoms. He was nonetheless administered intravenous recombinant tissue plasminogen activator (rtPA) based on the significant penumbra. He was discharged from the hospital after one week with significant residual deficit. At 2 months clinic follow-up, he showed almost complete recovery with a Modified Rankin Score of 1. We hope to demonstrate that a significant penumbra is an important determinant for good neurological recovery and outcome following stroke thrombolysis, even when patients present outside the 4.5 hours onset-to-treatment time window.

2.
Annals of the Academy of Medicine, Singapore ; : 237-240, 2013.
Artículo en Inglés | WPRIM | ID: wpr-305713

RESUMEN

<p><b>INTRODUCTION</b>The G2385R and R1628P LRRK2 gene variants have been associated with an increased risk of Parkinson's disease (PD) in the Asian population. Recently, a new LRRK2 gene variant, A419V, was reported to be a third risk variant for PD in Asian patients. Our objective was to investigate this finding in our cohort of Asian subjects.</p><p><b>MATERIALS AND METHODS</b>Eight hundred and twenty-eight subjects (404 PD patients, and 424 age and gender-matched control subjects without neurological disorders) were recruited. Genotyping was done by Taqman® allelic discrimination assay on an Applied Biosystems 7500 Fast Real-Time PCR machine.</p><p><b>RESULTS</b>The heterozygous A419V genotype was found in only 1 patient with PD, compared to 3 in the control group (0.4% vs 1.3%), giving an odds ratio of 0.35 (95% confidence interval (CI), 0.01 to 3.79; P = 0.624).</p><p><b>CONCLUSION</b>A419V is not an important LRRK2 risk variant in our Asian cohort of patients with PD. Our data are further supported by a literature review which showed that 4 out of 6 published studies reported a negative association of this variant in PD.</p>


Asunto(s)
Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Alanina , Genética , Estudios de Casos y Controles , China , Etnología , Estudios de Cohortes , Citosina , Frecuencia de los Genes , Variación Genética , Genética , Genotipo , Heterocigoto , India , Etnología , Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina , Malasia , Etnología , Enfermedad de Parkinson , Genética , Polimorfismo Genético , Genética , Proteínas Serina-Treonina Quinasas , Genética , Factores de Riesgo , Singapur , Timina , Valina , Genética
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