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Fulltext Prevalence, awareness, treatment, control and socio demographic determinants of hypertension in Malaysian adults

Abdul-Razak S, Daher AM, Ramli AS, Ariffin F, Mazapuspavina MY, Ambigga KS, et al.

BMC Public Health, 2016;16(1):351.
PMID: 27097542 DOI: 10.1186/s12889-016-3008-y

Hypertension is the leading cardiovascular risk factor globally as well as in Malaysia. This study aimed to estimate the prevalence, awareness, treatment, control and the socio demographic determinants of hypertension among Malaysian adults.
Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex

Ismail NF, Rani AQ, Nik Abdul Malik NM, Boon Hock C, Mohd Azlan SN, Abdul Razak S, et al.

J Mol Diagn, 2017 03;19(2):265-276.
PMID: 28087349 DOI: 10.1016/j.jmoldx.2016.10.009

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder characterized by tumor growth in multiple organs and caused by mutations in either TSC1 or TSC2 genes. Because of their relatively large genomic sizes, absence of hotspots, and common type of mutations, mutation detection in TSC1 and TSC2 genes has been challenging. We devised a combination of multiple ligation-dependent probe amplification (MLPA) and amplicon sequencing (AS) to simplify the detection strategy, yet we come up with reasonably high detection rate. Thirty-four Malaysian patients diagnosed with TSC were referred to Human Genome Center, Universiti Sains Malaysia. We used a combination of MLPA to detect large copy number changes and AS to detect smaller mutations. TSC1 pathogenic or likely pathogenic mutations were found in 6 patients (18%) and TSC2 in 21 patients (62%), whereas 6 patients (18%) show no mutations and 1 patient (2%) showed only TSC2 missense variant with uncertain significance. Six of the mutations are novel. Our detection strategy costs 81% less and require 1 working week less than the conventional strategy. Confirmatory sequencing using Sanger method on a few representative mutations showed agreement with results of the AS. Combination of MLPA and Illumina MiSeq AS provides a simplified strategy and reasonably high detection rate for TSC1/TSC2 mutation, which suggested application of the strategies into clinical molecular diagnostics.
Fulltext Fatty Acid Composition of Selected Street Foods Commonly Available in Malaysia

Zainal Arifen ZN, Shahril MR, Shahar S, Mohamad H, Mohd Yazid SFZ, Michael V, et al.

Foods, 2023 Mar 14;12(6).
PMID: 36981160 DOI: 10.3390/foods12061234

Despite growing evidence of increased saturated and trans fat contents in street foods, little is known about their fatty acid (FA) compositions. This study aimed to analyse the saturated fatty acids (SFAs), monounsaturated fatty acids (MUFAs), polyunsaturated fatty acids (PUFAs), and trans fatty acids (TFAs) content of 70 selected and most commonly available street foods in Malaysia. The street foods were categorised into main meals, snacks, and desserts. TFAs were not detected in any of the street foods. Descriptively, all three categories mainly contained SFAs, followed by MUFAs, and PUFAs. However, the one-way ANOVA testing showed that the differences between each category were insignificant (p > 0.05), and each FA was not significantly different (p > 0.05) from one to another. Nearly half of the deep-fried street foods contained medium to high SFAs content (1.7 g/100 g-24.3 g/100 g), while the MUFAs were also high (32.0-44.4%). The Chi-square test of association showed that the type of preparation methods (low or high fat) used was significantly associated (p < 0.05) with the number of SFAs. These findings provide valuable information about fat composition in local street foods for the Malaysian Food Composition Database and highlight the urgency to improve nutritional composition.
Fulltext Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care

Kamal A, Kanchau JD, Shahuri NS, Mohamed-Yassin MS, Baharudin N, Abdul Razak S, et al.

Am J Case Rep, 2023 Apr 27;24:e939489.
PMID: 37185657 DOI: 10.12659/AJCR.939489

BACKGROUND In Malaysia, the prevalence of genetically confirmed heterozygous familial hypercholesterolemia (FH) was reported as 1 in 427. Despite this, FH remains largely underdiagnosed and undertreated in primary care. CASE REPORT In this case series, we report 3 FH cases detected in primary care due to mutations in the low-density lipoprotein receptor (LDLR), apolipoprotein-B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. The mutations in case 1 (frameshift c.660del pathogenic variant in LDLR gene) and case 2 (missense c.10579C>T pathogenic variant in APOB gene) were confirmed as pathogenic, while the mutation in case 3 (missense c.277C>T mutation in PCSK9 gene) may have been benign. In case 1, the patient had the highest LDL-c level, 8.6 mmol/L, and prominent tendon xanthomas. In case 2, the patient had an LDL-c level of 5.7 mmol/L and premature corneal arcus. In case 3, the patient had an LDL-c level of 5.4 mmol/L but had neither of the classical physical findings. Genetic counseling and diagnosis were delivered by primary care physicians. These index cases were initially managed in primary care with statins and therapeutic lifestyle modifications. They were referred to the lipid specialists for up-titration of lipid lowering medications. First-degree relatives were identified and referred for cascade testing. CONCLUSIONS This case series highlights different phenotypical expressions in patients with 3 different FH genetic mutations. Primary care physicians should play a pivotal role in the detection of FH index cases, genetic testing, management, and cascade screening of family members, in partnership with lipid specialists.
Fulltext Factors associated with usability of the EMPOWER-SUSTAIN Self-management mobile app© among individuals with cardiovascular risk factors in primary care

Abu Hussain SM, Miptah HN, Shibraumalisi NA, Mohamed-Yassin MS, Baharudin N, Badlishah-Sham SF, et al.

Digit Health, 2024;10:20552076241242795.
PMID: 38571876 DOI: 10.1177/20552076241242795

OBJECTIVE: This study aimed to determine the usability of the EMPOWER-SUSTAIN Self-Management Mobile App© and evaluate the factors associated with its usability among patients with cardiovascular risk factors in primary care.
METHODOLOGY: This was a cross-sectional study, conducted among patients aged ≥ 18 years with cardiovascular risk factors attending a university primary care clinic. Patients were given the app to use for at least three months. Those who fulfilled the eligibility criteria were recruited. Data gathered were on sociodemographic, clinical characteristics, self-management support by doctors, utilisation of the app at home and social support in using the app. The previously translated and validated Malay version of the mHealth App Usability Questionnaire was used to measure usability. The mean usability score was calculated and linear regressions analysis was conducted to determine the factors associated with the usability of the app.
RESULTS: A total of 247 patients with at least one cardiovascular risk factor(s) were recruited. The mean age was 60.2 (±8.2). The majority were Malays (86.2%) and half of them were males (52.2%). The total mean (±SD) usability score was 5.26 (±0.67) indicating a high usability of the app. Usability of the app declined with increasing age in the simple linear regressions analysis. The multiple linear regressions yielded that being Malay (b = 0.31, 95% CI 0.08,0.54), using the app at home to understand their medications (b = 0.33, 95% CI 0.12,0.53) and having social support from family members and friends (b = 0.28, 95% CI 0.07,0.49) were significantly associated with higher usability of the app.
CONCLUSION: The usability of the EMPOWER-SUSTAIN Self-Management Mobile App© was high among patients with cardiovascular risk factors in our primary care clinic. This finding supports the widespread use of this app among our patients. Involvement of family members and friends should be encouraged to improve the usability of the app.
Fulltext Study protocol of EMPOWER participatory action research (EMPOWER-PAR): a pragmatic cluster randomised controlled trial of multifaceted chronic disease management strategies to improve diabetes and hypertension outcomes in primary care

Ramli AS, Lakshmanan S, Haniff J, Selvarajah S, Tong SF, Bujang MA, et al.

BMC Fam Pract, 2014;15:151.
PMID: 25218689 DOI: 10.1186/1471-2296-15-151

Chronic disease management presents enormous challenges to the primary care workforce because of the rising epidemic of cardiovascular risk factors. The chronic care model was proven effective in improving chronic disease outcomes in developed countries, but there is little evidence of its effectiveness in developing countries. The aim of this study was to evaluate the effectiveness of the EMPOWER-PAR intervention (multifaceted chronic disease management strategies based on the chronic care model) in improving outcomes for type 2 diabetes mellitus and hypertension using readily available resources in the Malaysian public primary care setting. This paper presents the study protocol.
Fulltext Effectiveness of the EMPOWER-PAR Intervention in Improving Clinical Outcomes of Type 2 Diabetes Mellitus in Primary Care: A Pragmatic Cluster Randomised Controlled Trial

Ramli AS, Selvarajah S, Daud MH, Haniff J, Abdul-Razak S, Tg-Abu-Bakar-Sidik TM, et al.

BMC Fam Pract, 2016 11 14;17(1):157.
PMID: 27842495

BACKGROUND: The chronic care model was proven effective in improving clinical outcomes of diabetes in developed countries. However, evidence in developing countries is scarce. The objective of this study was to evaluate the effectiveness of EMPOWER-PAR intervention (based on the chronic care model) in improving clinical outcomes for type 2 diabetes mellitus using readily available resources in the Malaysian public primary care setting.

METHODS: This was a pragmatic, cluster-randomised, parallel, matched pair, controlled trial using participatory action research approach, conducted in 10 public primary care clinics in Malaysia. Five clinics were randomly selected to provide the EMPOWER-PAR intervention for 1 year and another five clinics continued with usual care. Patients who fulfilled the criteria were recruited over a 2-week period by each clinic. The obligatory intervention components were designed based on four elements of the chronic care model i.e. healthcare organisation, delivery system design, self-management support and decision support. The primary outcome was the change in the proportion of patients achieving HbA1c
Fulltext Reducing Premature Coronary Artery Disease in Malaysia by Early Identification of Familial Hypercholesterolemia Using the Familial Hypercholesterolemia Case Ascertainment Tool (FAMCAT): Protocol for a Mixed Methods Evaluation Study

Ramli AS, Qureshi N, Abdul-Hamid H, Kamal A, Kanchau JD, Shahuri NS, et al.

JMIR Res Protoc, 2023 Jun 02;12:e47911.
PMID: 37137823 DOI: 10.2196/47911

BACKGROUND: Familial hypercholesterolemia (FH) is predominantly caused by mutations in the 4 FH candidate genes (FHCGs), namely, low-density lipoprotein receptor (LDLR), apolipoprotein B-100 (APOB-100), proprotein convertase subtilisin/kexin type 9 (PCSK9), and the LDL receptor adaptor protein 1 (LDLRAP1). It is characterized by elevated low-density lipoprotein cholesterol (LDL-c) levels leading to premature coronary artery disease. FH can be clinically diagnosed using established clinical criteria, namely, Simon Broome (SB) and Dutch Lipid Clinic Criteria (DLCC), and can be identified using the Familial Hypercholesterolemia Case Ascertainment Tool (FAMCAT), a primary care screening tool.
OBJECTIVE: This study aims to (1) compare the detection rate of genetically confirmed FH and diagnostic accuracy between the FAMCAT, SB, and DLCC in the Malaysian primary care setting; (2) identify the genetic mutation profiles, including novel variants, in individuals with suspected FH in primary care; (3) explore the experience, concern, and expectation of individuals with suspected FH who have undergone genetic testing in primary care; and (4) evaluate the clinical utility of a web-based FH Identification Tool that includes the FAMCAT, SB, and DLCC in the Malaysian primary care setting.
METHODS: This is a mixed methods evaluation study conducted in 11 Ministry of Health primary care clinics located at the central administrative region of Malaysia. In Work stream 1, the diagnostic accuracy study design is used to compare the detection rate and diagnostic accuracy of the FAMCAT, SB, and DLCC against molecular diagnosis as the gold standard. In Work stream 2, the targeted next-generation sequencing of the 4 FHCGs is used to identify the genetic mutation profiles among individuals with suspected FH. In Work stream 3a, a qualitative semistructured interview methodology is used to explore the experience, concern, and expectation of individuals with suspected FH who have undergone genetic testing. Lastly, in Work stream 3b, a qualitative real-time observation of primary care physicians using the "think-aloud" methodology is applied to evaluate the clinical utility of a web-based FH Identification Tool.
RESULTS: The recruitment for Work stream 1, and blood sampling and genetic analysis for Work stream 2 were completed in February 2023. Data collection for Work stream 3 was completed in March 2023. Data analysis for Work streams 1, 2, 3a, and 3b is projected to be completed by June 2023, with the results of this study anticipated to be published by December 2023.
CONCLUSIONS: This study will provide evidence on which clinical diagnostic criterion is the best to detect FH in the Malaysian primary care setting. The full spectrum of genetic mutations in the FHCGs including novel pathogenic variants will be identified. Patients' perspectives while undergoing genetic testing and the primary care physicians experience in utilizing the web-based tool will be established. These findings will have tremendous impact on the management of patients with FH in primary care and subsequently reduce their risk of premature coronary artery disease.
INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/47911.