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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 ; 22(5): 98-102, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28239275

RESUMO

A 33-year-old lady presented to the emergency department (ED) of Kuala Lumpur Hospital with subacute onset of headaches, irritability, and vomiting. Neurological examination revealed a restless agitated patient, poor responses to verbal commands with a Glasgow Coma Scale of 14/15, photophobia, blurred nasal margins with generalised weakness, hyperreflexia, and downgoing plantars. Computed tomography (CT) of the brain showed evidence of biparietal infarction with an empty delta sign. Urgent magnetic resonance imaging and venography (MRI/MRV) of the brain in the ED showed evidence of thrombosis of the superior sagittal sinus extending to the torcular herophili, straight sinus, transverse sinuses, sigmoid sinuses, and proximal internal jugular veins. The precipitating factor for the thrombosis was possibly oral contraceptive pill usage, which she had been taking for a month. She was treated aggressively with anticoagulation. The patient subsequently improved symptomatically and achieved full neurological recovery. In this patient, early recognition of the clinical symptoms and a CT scan with confirmation by MRI/MRV of the brain enabled the prompt diagnosis and treatment of cerebral venous sinus thrombosis with a good clinical outcome.

3.
Int Sch Res Notices ; 2014: 187823, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-27350989

RESUMO

Background. Since 2008, we have observed an increasing number of Myanmarese refugees in Malaysia being admitted for acute/subacute onset peripheral neuropathy. Most of them had a preceding history of starvation. Methods. We retrospectively studied the clinical features of all Myanmarese patients admitted with peripheral neuropathy from September 2008 to January 2014. Results. A total of 24 patients from the Chin, Rohingya, and Rakhine ethnicities (mean age, 23.8 years; male, 96%) had symmetrical, ascending areflexic weakness with at least one additional presenting symptom of fever, lower limb swelling, vomiting, abdominal pain, or difficulty in breathing. Twenty (83.3%) had sensory symptoms. Ten (41.6%) had cranial nerve involvement. Nineteen patients had cerebrospinal fluid examinations but none with evidence of albuminocytological dissociation. Neurophysiological assessment revealed axonal polyneuropathy, predominantly a motor-sensory subtype. Folate and vitamin B12 deficiencies were detected in 31.5% of them. These findings suggested the presence of a polyneuropathy related to nutrition against a backdrop of other possible environmental factors such as infections, metabolic disorders, or exposure to unknown toxin. Supportive treatment with appropriate vitamins supplementation improved functional outcome in most patients. Conclusion. We report a spectrum of acquired reversible neurological manifestations among Myanmarese refugees likely to be multifactorial with micronutrient deficiencies playing an important role in the pathogenesis.

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