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<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 , GenéticaRESUMEN
Hyponatraemia with rapid correction of serum sodium may cause an osmotic demyelination syndrome (ODS) with damage to pontine and/or extrapontine areas of the brain. The prognosis of ODS can range from complete recovery to death; at present, our ability to predict clinical outcome is very limited. We describe here a patient with ODS and increased signal intensity in the striatum on diffusion-weighted MRI, with corresponding low apparent diffusion coeffi cient values (indicating restricted water diffusion). This case provides a further example of the typical MRI appearance of extrapontine ODS and suggests the potential value of diffusion-weighted MRI in predicting prognosis in ODS.
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<p><b>OBJECTIVE</b>Some research has shown that p38 mitogen-activated protein kinase (p38MAPK) plays important roles in lung injuries induced by various factors. Its expression and role in hyperoxia-induced lung injury remains unknown. This study investigated the expression and role of p38MAPK in hyperoxia-induced lung injury juvenile rat model.</p><p><b>METHODS</b>Hyperoxia-induced lung injury rat model was prepared by 90% O(2) exposure. The location and expression of p38MAPK in lung tissues were detected by immunohistochemistry and Western blot respectively. Apoptosis index of lung was evaluated by TUNEL technique. The effect of SB203580, a p38MAPK inhibitor, on the apoptosis index of lung was observed.</p><p><b>RESULTS</b>The expression of phosphor-p38MAPK increased obviously after hyperoxia. Positive phosphor-p38MAPK cells were mainly distributed in the alveolar, airway epithelial cells, pulmonary vascular endothelium cells and infiltrative inflammatory cells. The apoptosis index of lung also significantly elevated. SB203580 inhibited the activation of p38MAPK, and reduced the apoptosis index of lung.</p><p><b>CONCLUSIONS</b>The phosphor-p38MAPK increased and was expressed in many kinds of lung cells in lung injury rat model. It may play a role in the induction of apoptosis in hyperoxia-induced lung injury.</p>