Mutation analysis of SOD1, C9orf72, TARDBP and FUS genes in ethnically-diverse Malaysian patients with amyotrophic lateral sclerosis (ALS).

Recent studies have identified SOD1, FUS, TARDBP and C9orf72 as major ALS-related genes in both European and Asian populations. However, significant differences exist in the mutation frequencies of these genes between various ancestral backgrounds. This study aims to identify the frequency of mutations in the common causative ALS genes in a multi-ethnic Malaysian cohort. We screened 101 Malaysian ALS patients including 3 familial and 98 sporadic cases for mutations in the coding regions of SOD1, FUS, and TARDBP by Sanger sequencing. The C9orf72 hexanucleotide repeat expansion was screened using the repeat-primed polymerase chain reaction assay. Mutations were found in 5.9% (6 of 101) of patients including 3.0% (3 of 101) of patients with the previously reported SOD1 missense mutations (p.V48A and p.N87S) and 3.0% (3 of 101) of patients with the C9orf72 repeat expansion. No mutations were found in the FUS and TARDBP genes. This study is the first to report the mutation frequency in an ethnically diverse Malaysian ALS population and warrants further investigation to reveal novel genes and disease pathways.

A survey on patients' disease perception and the impact of the COVID-19 pandemic on persons living with amyotrophic lateral sclerosis in Malaysia.

Aim: To investigate the patients' perception of their disease, its management and the impact of the COVID-19 pandemic on persons living with amyotrophic lateral sclerosis (ALS) in Malaysia. Patients & methods: An online survey comprising 42 questions was conducted on ALS patients during the peak of the COVID-19 pandemic. Results: Responses were received from 37/60 (62%) participants with ALS directly or through their caregivers. During the COVID-19 pandemic, two-thirds of patients were negatively impacted by the sudden disruption to their hospital appointments, rehabilitation sessions and reduced social interactions. Conclusion: This study provided insight into patients' perception of their care and management of ALS in Malaysia which will facilitate in implementing changes that can improve care to persons living with this devastating illness.

Mouth self-examination as a screening tool for oral potentially malignant disorders among a high-risk Indigenous population.

OBJECTIVES: To evaluate the efficacy of mouth self-examination (MSE) as a self-screening tool for detection of oral mucosal lesions among an Indigenous population in Malaysia at high risk for oral premalignant and malignant disorders. METHODS: Two villages were selected as the sampling frame based on prevalence of tobacco and betel quid chewing habit. Respondents were asked to check their mouth for presence of lesion or abnormalities. Education on oral cancer, including MSE, was provided. Subsequently, respondents were asked to perform MSE. Finally, a clinical oral examination (COE) was done by a specialist and the presence of oral mucosal lesions was recorded. RESULTS: Almost 64.5 percent of respondents exhibited high levels of difficulty and low mucosal visualization and retracting ability, whereas 3.0 percent demonstrated high attention level when performing MSE. Prevalence of oral mucosal lesions was 59.0 percent, whereas the prevalence of oral potentially malignant disorders (OPMDs) was 9.0 percent. Detection of oral lesions by respondents using MSE was lower than detection by the gold standard. Sensitivity and specificity of MSE for detection of all types of lesions were 8.6 and 95.0 percent respectively. When analyzing each lesion type separately, MSE was found to be most sensitive in detection of swellings (10.0 percent), and most specific in identifying white lesions (97.8 percent). For detection of OPMDs, although specificity was high (98.9 percent), sensitivity (0 percent), and +LR (0) was poor. CONCLUSION: MSE is not an effective self-screening tool for early detection of potentially malignant lesions for this population.