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Fulltext Two novel gross deletions of TSC2 in Malaysian patients with tuberous sclerosis complex and TSC2/PKD1 contiguous deletion syndrome

Ismail NF, Nik Abdul Malik NM, Mohseni J, Rani AM, Hayati F, Salmi AR, et al.

Jpn J Clin Oncol, 2014 May;44(5):506-11.
PMID: 24683199 DOI: 10.1093/jjco/hyu024

Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder affecting multiple organs. Tuberous sclerosis complex is caused by mutation in either one of the two disease-causing genes, TSC1 or TSC2, encoding for hamartin and tuberin, respectively. TSC2/PKD1 contiguous gene deletion syndrome is a very rare condition due to deletion involving both TSC2 and PKD1 genes. Tuberous sclerosis complex cannot be easily diagnosed since there is no pathognomonic feature, although there are consensus diagnostic criteria for that. Mutation analysis is useful and plays important roles. We report here two novel gross deletions of TSC2 gene in Malay patients with tuberous sclerosis complex and TSC2/PKD1 contiguous gene deletion syndrome, respectively.
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 Study protocol for a mixed methods approach to optimize colorectal cancer screening in Malaysia: Integrating stakeholders insights and knowledge-to-action framework

Chong DW, Jayaraj VJ, Ab Rahim FI, Syed Soffian SS, Azmi MF, Mohd Yusri MY, et al.

PLoS One, 2024;19(4):e0299659.
PMID: 38593177 DOI: 10.1371/journal.pone.0299659

INTRODUCTION: Colorectal cancer is a growing global health concern and the number of reported cases has increased over the years. Early detection through screening is critical to improve outcomes for patients with colorectal cancer. In Malaysia, there is an urgent need to optimize the colorectal cancer screening program as uptake is limited by multiple challenges. This study aims to systematically identify and address gaps in screening service delivery to optimize the Malaysian colorectal cancer screening program.
METHODS: This study uses a mixed methods design. It focuses primarily on qualitative data to understand processes and strategies and to identify specific areas that can be improved through stakeholder engagement in the screening program. Quantitative data play a dual role in supporting the selection of participants for the qualitative study based on program monitoring data and assessing inequalities in screening and program implementation in healthcare facilities in Malaysia. Meanwhile, literature review identifies existing strategies to improve colorectal cancer screening. Additionally, the knowledge-to-action framework is integrated to ensure that the research findings lead to practical improvements to the colorectal cancer screening program.
DISCUSSION: Through this complex mix of qualitative and quantitative methods, this study will explore the complex interplay of population- and systems-level factors that influence screening rates. It involves identifying barriers to effective colorectal cancer screening in Malaysia, comparing current strategies with international best practices, and providing evidence-based recommendations to improve the local screening program.
Fulltext COVID-19 in Malaysia: exposure assessment and prevention practices among healthcare workers at a teaching hospital

Muhammad Azami NA, Abdul Murad NA, Mohammed Nawi A, Salleh SA, Periyasamy P, Kori N, et al.

J Infect Dev Ctries, 2021 12 31;15(12):1816-1824.
PMID: 35044938 DOI: 10.3855/jidc.15277

INTRODUCTION: During the second wave of the coronavirus disease 19 (COVID-19) pandemic, Malaysia reported several COVID-19 clusters related to healthcare workers. Thus, addressing and understanding the risk of exposure in healthcare workers is important to prevent future infection and reduce secondary COVID-19 transmission within the healthcare settings. In this study, we aim to assess exposure and prevention practices against COVID-19 among healthcare workers at the Hospital Canselor Tuanku Muhriz, a university teaching hospital based in Kuala Lumpur, Malaysia.
METHODOLOGY: A total of 571 healthcare workers at COVID-19 and non-COVID-19 wards as well as the emergency department and laboratory staff at COVID-19 testing labs were recruited. The presence of novel human coronavirus (SARS-CoV-2) and IgM/IgG antibodies were confirmed in all healthcare workers. The healthcare workers responded to an online Google Forms questionnaire that evaluates demographic information and comorbidities, exposure and adherence to infection prevention and control measures against COVID-19. Descriptive analysis was performed using Statistical Package for the Social Sciences 24.0.
RESULTS: Three healthcare workers (0.5%) tested positive for SARS-CoV-2, while the remaining 568 (99.5%) were negative. All were negative for IgM and IgG antibodies during recruitment (day 1) and follow-up (day 15). More than 90% of the healthcare workers followed infection prevention and control practices recommendations regardless of whether they have been exposed to occupational risk for COVID-19.
CONCLUSIONS: The healthcare workers' high level of adherence to infection prevention practices at this hospital helped reduce and minimize their occupational exposure to COVID-19.
Fulltext Ramadan intermittent fasting induced poorer training practices during the COVID-19 lockdown: A global cross-sectional study with 5529 athletes from 110 countries

Washif JA, Pyne DB, Sandbakk Ø, Trabelsi K, Aziz AR, Beaven CM, et al.

Biol Sport, 2022 Oct;39(4):1103-1115.
PMID: 36247962 DOI: 10.5114/biolsport.2022.117576

Ramadan intermittent fasting during the COVID-19 lockdown (RIFL) may present unique demands. We investigated training practices (i.e., training load and training times) of athletes, using pre-defined survey criteria/questions, during the 'first' COVID-19 lockdown, comparing RIFL to lockdown-alone (LD) in Muslim athletes. Specifically, a within-subject, survey-based study saw athletes (n = 5,529; from 110 countries/territories) training practices (comparing RIFL to LD) explored by comparative variables of: sex; age; continent; athlete classification (e.g., world-class); sport classification (e.g., endurance); athlete status (e.g., professional); and level of training knowledge and beliefs/attitudes (ranked as: good/moderate/poor). During RIFL (compared to LD), athlete perceptions (ranges presented given variety of comparative variables) of their training load decreased (46-62%), were maintained (31-48%) or increased (2-13%). Decreases (≥ 5%, p < 0.05) affected more athletes aged 30-39 years than those 18-29 years (60 vs 55%); more national than international athletes (59 vs 51%); more team sports than precision sports (59 vs 46%); more North American than European athletes (62 vs 53%); more semi-professional than professional athletes (60 vs 54%); more athletes who rated their beliefs/attitudes 'good' compared to 'poor' and 'moderate' (61 vs 54 and 53%, respectively); and more athletes with 'moderate' than 'poor' knowledge (58 vs 53%). During RIFL, athletes had different strategies for training times, with 13-29% training twice a day (i.e., afternoon and night), 12-26% at night only, and 18-36% in the afternoon only, with ranges depending on the comparative variables. Training loads and activities were altered negatively during RIFL compared to LD. It would be prudent for decision-makers responsible for RIFL athletes to develop programs to support athletes during such challenges.
Fulltext Training During the COVID-19 Lockdown: Knowledge, Beliefs, and Practices of 12,526 Athletes from 142 Countries and Six Continents

Washif JA, Farooq A, Krug I, Pyne DB, Verhagen E, Taylor L, et al.

Sports Med, 2022 04;52(4):933-948.
PMID: 34687439 DOI: 10.1007/s40279-021-01573-z

OBJECTIVE: Our objective was to explore the training-related knowledge, beliefs, and practices of athletes and the influence of lockdowns in response to the coronavirus disease 2019 (COVID-19) pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).
METHODS: Athletes (n = 12,526, comprising 13% world class, 21% international, 36% national, 24% state, and 6% recreational) completed an online survey that was available from 17 May to 5 July 2020 and explored their training behaviors (training knowledge, beliefs/attitudes, and practices), including specific questions on their training intensity, frequency, and session duration before and during lockdown (March-June 2020).
RESULTS: Overall, 85% of athletes wanted to "maintain training," and 79% disagreed with the statement that it is "okay to not train during lockdown," with a greater prevalence for both in higher-level athletes. In total, 60% of athletes considered "coaching by correspondence (remote coaching)" to be sufficient (highest amongst world-class athletes). During lockdown,
Fulltext Correction to: Training During the COVID-19 Lockdown: Knowledge, Beliefs, and Practices of 12,526 Athletes from 142 Countries and Six Continents

Washif JA, Farooq A, Krug I, Pyne DB, Verhagen E, Taylor L, et al.

Sports Med, 2022 Oct 22.
PMID: 36272061 DOI: 10.1007/s40279-022-01776-y