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1.
Am J Med Genet B Neuropsychiatr Genet ; 171(6): 839-47, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27174169

RESUMO

PARK16 was identified as a risk factor for Parkinson's disease in a Japanese cohort; however, subsequent studies in the other populations including the Chinese, European, Caucasian, and Chilean have shown a protective role instead. To investigate this locus in our Malaysian cohort, 1,144 individuals were screened for five SNPs in the PARK16 locus and logistic regression analysis showed that the A allele of the rs947211 SNP reduced the risk of developing PD via a recessive model (Odds ratio 0.57, P-value 0.0003). Pooled analysis with other Asian studies showed that A allele of the rs947211 SNP decreased the risk of developing PD via a recessive model (Odds ratio 0.71, P-value 0.0001). In addition, when meta-analysis was performed with other Asian population, three SNPs (rs823128, rs823156, and rs11240572) reduced risk of developing PD via a dominant model. © 2016 Wiley Periodicals, Inc.


Assuntos
Doença de Parkinson/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Etnicidade , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Humanos , Malásia , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/metabolismo , Doença de Parkinson/fisiopatologia , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco
2.
Malays J Med Sci ; 21(2): 78-81, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24876813

RESUMO

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.

3.
Dement Geriatr Cogn Disord ; 36(3-4): 179-96, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23899462

RESUMO

OBJECTIVE: Patients suffering from stroke have a diminished ability to recognize emotions. This paper presents a review of neuropsychological studies that investigated the basic emotion processing deficits involved in individuals with interhemispheric brain (right, left) damage and normal controls, including processing mode (perception) and communication channels (facial, prosodic-intonational, lexical-verbal). METHODS: An electronic search was conducted using specific keywords for studies investigating emotion recognition in brain damage patients. The PubMed database was searched until March 2012 as well as citations and reference lists. 92 potential articles were identified. RESULTS: The findings showed that deficits in emotion perception were more frequently observed in individuals with right brain damage than those with left brain damage when processing facial, prosodic and lexical emotional stimuli. CONCLUSION: These findings suggest that the right hemisphere has a unique contribution in emotional processing and provide support for the right hemisphere emotion hypothesis. SIGNIFICANCE: This robust deficit in emotion recognition has clinical significance. The extent of emotion recognition deficit in brain damage patients appears to be correlated with a variety of interpersonal difficulties such as complaints of frustration in social relations, feelings of social discomfort, desire to connect with others, feelings of social disconnection and use of controlling behaviors.


Assuntos
Emoções/fisiologia , Reconhecimento Psicológico/fisiologia , Acidente Vascular Cerebral/psicologia , Comunicação , Tomada de Decisões , Empatia , Expressão Facial , Humanos , Testes Neuropsicológicos , Percepção Social , Resultado do Tratamento
4.
BMC Infect Dis ; 13: 179, 2013 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-23594500

RESUMO

BACKGROUND: Dengue is a common illness in the tropics. Equally common are neurological complications that stem from dengue infection. However, to date, parkinsonism following dengue has not been reported in medical literature. CASE PRESENTATION: A previously well 18-year old man developed parkinsonism, in addition to other neurological symptoms following serologically confirmed dengue fever. Alternative etiologies were excluded by way of imaging and blood investigations. CONCLUSIONS: The authors detail the first reported case of parkinsonism complicating dengue fever. Keeping rare presentations of common illnesses in mind, it behoves clinicians to consider parkinsonism as a complication following dengue infection. This would prevent injudicious treatment with L-dopa and dopamine agonists. Immunosuppression with steroids has been shown to be helpful in certain cases.


Assuntos
Dengue/complicações , Transtornos Parkinsonianos/diagnóstico , Transtornos Parkinsonianos/patologia , Adolescente , Encéfalo/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Masculino , Radiografia
5.
Mol Genet Genomic Med ; 7(11): e604, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31487119

RESUMO

BACKGROUND: The LRRK2 gene is associated with Parkinson's disease (PD) as a number of mutations within the gene have been shown to be susceptibility factors. Studies on various global populations have determined that mutations such as G2019S, G2385R, and R1628P in LRRK2 increase the risk of developing PD while the N551K-R1398H haplotype is associated with conferring protection against developing PD. Here we report a study looking at the N551K and R1398H variants for the first time in the Malaysian population. METHODS: Cases (523) which conformed to the United Kingdom PD Brain Bank Criteria for PD were recruited through trained neurologists and age- and ethnically matched controls (491) were individuals free of any neurological disorder. The N551K and R1398H mutations were genotyped using the Taqman SNP genotyping assay. RESULTS: A significant protective association for N551K was found in those of Malay ancestry, with a protective trend seen for R1398H. A meta-analysis of Chinese individuals in this cohort with other published cohorts of Chinese ancestry indicated a significant protective role for N551K and R1398H. CONCLUSION: This study reports that the N551K-R1398H haplotype is also relevant to the Malaysian population, with a significant protective effect found in those of Malay and Chinese ancestries.


Assuntos
Povo Asiático/genética , Predisposição Genética para Doença , Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina/genética , Mutação , Doença de Parkinson/genética , Estudos de Casos e Controles , Estudos de Coortes , Feminino , Seguimentos , Genótipo , Haplótipos , Humanos , Malásia/epidemiologia , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/epidemiologia , Prognóstico
7.
Parkinsons Dis ; 2014: 472157, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24800102

RESUMO

Background. The nonmotor symptoms are important determinants of health and quality of life in Parkinson's disease but are not well recognized and addressed in clinical practice. This study was conducted to determine the prevalence of nonmotor symptoms and their impact on quality of life in patients with Parkinson's disease. Methods. This was a cross-sectional study among patients with idiopathic Parkinson's disease. Exclusion criteria were a Mini Mental State Examination score of <21/30. Prevalence of nonmotor symptoms was determined using the NMSQuest. The severity of nonmotor symptoms and the quality of life were assessed using validated disease-specific questionnaires (PDQ-39 and NMSS). Results. A total of 113 patients consisting of 60 males and 53 females were recruited. The median duration of illness was 5.0 (2.0-8.0) years. The prevalence rate of nonmotor symptoms in our cohort was 97.3%. The most common reported nonmotor symptom in our cohort was gastrointestinal (76.1%). We found that the severity of the nonmotor symptoms was associated with poorer quality of life scores (r s : 0.727, P < 0.001). Conclusions. Nonmotor symptoms were highly prevalent in our patients with Parkinson's disease and adversely affected the quality of life of our patients. In contrast to western studies, the most common nonmotor symptom is gastrointestinal. The possibility of an Asian diet playing a role in this observation requires further study.

8.
Parkinsons Dis ; 2013: 535613, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24455416

RESUMO

Introduction. Restless legs syndrome has been shown to negatively impact the quality of life of patients. Studies have shown an association between restless legs syndrome and Parkinson's disease. We attempted to investigate the prevalence of restless legs syndrome in Parkinson's disease patients and to identify associated risk factors. Method. This was a cross-sectional study among patients with idiopathic Parkinson's disease. Exclusion criterion was a Mini Mental State Examination score of less than 21/30. The International Restless Legs Syndrome Study Group criterion was used to identify patients with restless legs syndrome. Results. A total of 113 patients were recruited. The prevalence rate of restless legs syndrome in our cohort was 9.7% and was significantly associated with a younger onset of Parkinson's disease (P = 0.023), male gender (P = 0.045), higher Mini Mental State Examination score (P = 0.004), and less advanced Hoehn & Yahr stage (P = 0.014). Conclusion. The prevalence rate of restless legs syndrome in our Parkinson's disease population is in keeping with other studies published worldwide. The significance of the association between a younger onset of Parkinson's disease and restless legs syndrome needs to be further investigated.

9.
EXCLI J ; 12: 907-15, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-27092036

RESUMO

BACKGROUND: Aspirin use is known to reduce the recurrence of stroke. However, the clinical response to aspirin has been mixed. The rate of stroke recurrence whilst on aspirin treatment is still unacceptably high. A plausible explanation for this may be resistance to the effects of aspirin. The causes of aspirin resistance are manifold and multi-factorial. We conducted a study to investigate the prevalence rate of biochemical aspirin resistance in a cohort of aspirin-naïve stroke patients. We also sought to determine the inherent factors that may predispose towards the development of aspirin resistance. METHOD: This was a cross-sectional, observational study conducted on patients admitted to our centre with an acute stroke who were aspirin-naïve. The diagnosis of an acute stroke was confirmed by clinical history and brain imaging. Fifty consecutive patients were prospectively enrolled. Socio-demographic data were collected and baseline blood investigations were performed. Patients were tested for biochemical aspirin resistance using Multiplate platelet analyser (Dynabyte, Munich, Germany) after 5 doses of aspirin, corresponding to a total dose of 900 mg. RESULTS: The median age of patients was 65.5 years and 54 % of patients were female. There were 11 smokers; of these 10 were male. Twenty-six (52 %) patients were Chinese, 21 (41 %) were Malay and 3 (6.0 %) were Indian. Aspirin resistance was present in 14 % of our patients. There was an inverse relationship between the presence of aspirin resistance and plasma HDL levels (r = -0.394; p = 0.005). There was no relationship observed between aspirin resistance and total cholesterol, triglycerides, LDL, HbA1c, ALT, ALP, urea and creatinine levels. There were no significant differences in demographic profiles or smoking status between the aspirin resistant and non-aspirin resistant groups. We did not find any link between ethnicity and aspirin resistance. CONCLUSIONS: Our results indicate that a lower HDL level is associated with biochemical aspirin resistance. This may increase platelet aggregation and consequently increase the risk of a recurrent stroke. The clinical implications for aspirin resistance are far reaching. Any evidence that correctable factors may negatively influence the action of aspirin warrants further investigation. The prevalence rate of biochemical aspirin resistance in our study is comparable to the findings in other studies performed in an Asian population. Further research is required to determine how our findings translate into clinical aspirin resistance and stroke recurrence.

10.
Ann Acad Med Singap ; 42(5): 237-40, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23771111

RESUMO

INTRODUCTION: 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. MATERIALS AND METHODS: 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. RESULTS: 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). CONCLUSION: 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.


Assuntos
Alanina/genética , Variação Genética/genética , Doença de Parkinson/genética , Proteínas Serina-Treonina Quinases/genética , Valina/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , China/etnologia , Estudos de Coortes , Citosina , Feminino , Frequência do Gene , Genótipo , Heterozigoto , Humanos , Índia/etnologia , Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina , Malásia/etnologia , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético/genética , Fatores de Risco , Singapura , Timina , Adulto Jovem
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