Displaying publications 1 - 20 of 252 in total

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  1. 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, 

  2. 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.

  3. 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.

  4. 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.
  5. 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.
  6. Zain RB, Ghani WM, Razak IA, Latifah RJ, Samsuddin AR, Cheong SC, et al.
    Asian Pac J Cancer Prev, 2009 Jul-Sep;10(3):513-8.
    PMID: 19640201
    BACKGROUND: The rising burden of cancer in the developing world calls for a re-evaluation of the treatment strategies employed to improve patient management, early detection and understanding of the disease. There is thus an increasing demand for interdisciplinary research that integrates two or more disciplines of what may seemed to be highly unrelated and yet very much needed as strategies for success in research. This paper presents the processes and barriers faced in building partnerships in oral cancer research in a developing country.

    METHODS: A case study was undertaken in a developing country (Malaysia) to assess the strengths and weaknesses of the situation leading to the formation of a multidisciplinary research partnership in oral cancer. Following the formalization of the partnership, further evaluation was undertaken to identify measures that can assist in sustaining the partnership.

    RESULTS: The group identifies its strength as the existence of academia, research-intensive NGOs and good networking of clinicians via the existence of the government's network of healthcare provider system who are the policy makers. The major weaknesses identified are the competing interest between academia and NGOs to justify their existence due to the lack of funding sources and well trained human resources.

    CONCLUSIONS: With the growing partnership, the collaborative group recognizes the need to develop standard operating procedures (SOPs) and guidelines for the sharing and usage of resources in order to safeguard the interest of the original partners while also attending to the needs of the new partners.
  7. Fong SW, Few LL, See Too WC, Khoo BY, Nik Ibrahim NN, Yahaya SA, et al.
    BMC Res Notes, 2015;8:679.
    PMID: 26576922 DOI: 10.1186/s13104-015-1677-8
    Biomarkers play a pivotal role in the diagnosis and management of patients with acute coronary syndrome. This study aimed to investigate the differences in level of several biomarkers, i.e. C-reactive protein, myeloperoxidase, soluble CD40 ligand and placental growth factor, between acute coronary syndrome and chronic stable angina patients. The relationship between these biomarkers in the coronary circulation and systemic circulation was also investigated.
  8. Mohamed NA, Mohd Rani MD, Tengku Jamaluddin TZM, Ismail Z, Ramli S, Faroque H, et al.
    World J Pediatr, 2020 Aug;16(4):416-421.
    PMID: 31286426 DOI: 10.1007/s12519-019-00283-x
    BACKGROUND: Absenteeism amongst pre-school children is often due to illnesses such as hand, foot, and mouth disease, acute gastroenteritis, cold and flu, which are easily spread amongst them. This is because of weak immunity and lack of knowledge on proper hand hygiene. This quasi-experimental study assessed the efficacy of an intervention consisting of a hand hygiene education programme, along with digital tools in bringing about a change in behaviour and health conditions amongst pre-school children in Klang Valley, Malaysia.

    METHODS: A total of 377 school children, male and female, aged 5-6 years old, participated and were assigned to either the intervention or a control group. During the 2 months intervention period, children in the test group were trained on proper hand hygiene practices and techniques with the aid of the interactive android-based tablets. The numbers of absent days of all the children were recorded for 2 months before the intervention and during the intervention.

    RESULTS: In the test group, there was a 25% increase in the total number of absent days from the pre-intervention period to the intervention period, a much lesser increment observed as compared to that of control group in which the increase was much higher at 89%. Results showed a significant difference (P 

  9. Saini R, Tang TH, Zain RB, Cheong SC, Musa KI, Saini D, et al.
    J Cancer Res Clin Oncol, 2011 Feb;137(2):311-20.
    PMID: 20419384 DOI: 10.1007/s00432-010-0886-8
    PURPOSE: The purpose of this study was to evaluate the role of HPV and p53 polymorphisms in oral squamous cell carcinomas (OSCC) affecting Malaysian population.

    METHODS: We analysed frozen samples from 105 OSCC as well as 105 oral specimens derived from healthy individuals. PCR assays targeting two regions of the virus were used. PCR amplification for the analysis of p53 codon 72 arginine/proline alleles was carried out in a separate reaction.

    RESULTS: HPV DNA was detected in 51.4% OSCC samples, while 24.8% controls were found to be HPV positive. HPV was found to be significantly associated with OSCC (P 

  10. Imran M, Khan KB, Zaman K, Musah MB, Sudiapermana E, Aziz ARA, et al.
    Environ Sci Pollut Res Int, 2021 Aug;28(30):41000-41015.
    PMID: 33774795 DOI: 10.1007/s11356-021-13630-1
    The pro-poor growth and environmental sustainability are the twin agendas widely discussed in environmental science literature. The technology-embodied growth helps to attain both agendas through knowledge sharing and technology transfer, which trickle down to the poor income group and improve their living standards. Hence, the role of information and communication technologies (ICTs) is deemed crucial in boosting economic growth and is under deep consideration to establish its role in reducing poverty and environmental pollution. The current study examines the long-run relationship between ICTs, poverty reduction, and ecological degradation in Pakistan using time series data from 1975-2018. The short- and long-run parameter estimates were obtained through the Autoregressive Distributed Lag (ARDL) model for robust inferences. The results substantiate the inverted U-shaped Environmental Kuznets Curve relationship between income and emissions with a turning point at US$1000 in the short-run and US$800 in the long-run. The results confirmed the decisive intervention of ICTs factors in the poverty reduction, i.e., computer communications and mobile-telephone-broadband subscriptions support to reduce poverty incidence with the mediation of inbound FDI in a country. As far as income inequality is concerned, it shows that computer services support minimizing income inequality via a channel of high-technology exports in a country. The technology embodied emissions verified in the long-run, where mobile-telephone-broadband subscriptions increase carbon emissions. Finally, mobile-telephone-broadband subscriptions and inbound FDI both are significant contributors to amplify the country's economic growth. The results conclude that poverty reduction and environmental sustainability agenda are achieved by developing green ICT infrastructure in a country.
  11. Roney M, Huq AKMM, Issahaku AR, Soliman MES, Hossain MS, Mustafa AH, et al.
    J Biomol Struct Dyn, 2023;41(21):12186-12203.
    PMID: 36645141 DOI: 10.1080/07391102.2023.2166123
    Dengue fever is a significant public health concern throughout the world, causing an estimated 500,000 hospitalizations and 20,000 deaths each year, despite the lack of effective therapies. The DENV-2 RdRp has been identified as a potential target for the development of new and effective dengue therapies. This research's primary objective was to discover an anti-DENV inhibitor using in silico ligand- and structure-based approaches. To begin, a ligand-based pharmacophore model was developed, and 130 distinct natural products (NPs) were screened. Docking of the pharmacophore-matched compounds were performed to the active site of DENV-2 RdRp protease . Eleven compounds were identified as potential DENV-2 RdRp inhibitors based on docking energy and binding interactions. ADMET and drug-likeness were done to predict their pharmacologic, pharmacokinetic, and drug-likeproperties . Compounds ranked highest in terms of pharmacokinetics and drug-like appearances were then subjected to additional toxicity testing to determine the leading compound. Additionally, MD simulation of the lead compound was performed to confirm the docked complex's stability and the binding site determined by docking. As a result, the lead compound (compound-108) demonstrated an excellent match to the pharmacophore, a strong binding contact and affinity for the RdRp enzyme, favourable pharmacokinetics, and drug-like characteristics. In summary, the lead compound identified in this study could be a possible DENV-2 RdRp inhibitor that may be further studied on in vitro and in vivo models to develop as a drug candidate.Communicated by Ramaswamy H. Sarma.
  12. Trabelsi K, Ammar A, Boukhris O, Boujelbane MA, Clark C, Romdhani M, et al.
    Br J Sports Med, 2024 Feb 07;58(3):136-143.
    PMID: 37923379 DOI: 10.1136/bjsports-2023-106826
    OBJECTIVE: To systematically review, summarise and appraise findings of published systematic reviews, with/without meta-analyses, examining associations between Ramadan fasting observance (RO), health-related indices and exercise test performances in athletes and physically active individuals.

    DESIGN: Overview of systematic reviews with assessment of reviews' methodological quality.

    DATA SOURCES: PubMed, Web of Science, Scopus, Cochrane Database of Systematic Reviews, SPORTDiscus, ProQuest, PsycINFO and SciELO.

    ELIGIBILITY CRITERIA FOR SELECTING STUDIES: Systematic reviews with/without meta-analyses examining associations of RO with health-related indices and exercise performances in athletes and physically active individuals.

    RESULTS: Fourteen systematic reviews (seven with meta-analyses) of observational studies, with low-to-critically-low methodological quality, were included. Two reviews found associations between RO and decreased sleep duration in athletes and physically active individuals. One review suggested athletes may experience more pronounced reductions in sleep duration than physically active individuals. One review found associations between RO and impaired sleep quality in athletes and physically active individuals. RO was associated with decreased energy, carbohydrate and water intake in adult-aged athletes, but not adolescents. One review suggests RO was associated with athletes' increased feelings of fatigue and decreased vigour. No association was found between RO and athletes' lean mass or haematological indices. RO was unfavourably associated with changes in athletes' performance during high-intensity exercise testing.

    CONCLUSION: Continuance of training during RO could be associated with athletes' mood state disturbances, decreased sleep duration and performance decline during high-intensity exercise testing, while preserving lean mass. However, careful interpretation is necessary due to the low-to-critically-low methodological quality of the included reviews.

  13. Wan Ahmad WA, Rosman A, Bavanandan S, Mohamed M, Kader MASA, Muthusamy TS, et al.
    Malays J Med Sci, 2023 Feb;30(1):67-81.
    PMID: 36875188 DOI: 10.21315/mjms2023.30.1.6
    Dyslipidaemia is highly prevalent in the Malaysian population and is one of the main risk factors for atherosclerotic cardiovascular disease (ASCVD). Low-density lipoprotein cholesterol (LDL-C) is recognised as the primary target of lipid-lowering therapy to reduce the disease burden of ASCVD. Framingham General CV Risk Score has been validated in the Malaysian population for CV risk assessment. The Clinical Practice Guidelines (CPG) on the management of dyslipidaemia were last updated in 2017. Since its publication, several newer randomised clinical trials have been conducted with their results published in research articles and compared in meta-analysis. This underscores a need to update the previous guidelines to ensure good quality care and treatment for the patients. This review summarises the benefits of achieving LDL-C levels lower than the currently recommended target of < 1.8mmol/L without any safety concerns. In most high and very high-risk individuals, statins are the first line of therapy for dyslipidaemia management. However, certain high-risk individuals are not able to achieve the LDL-C goal as recommended in the guideline even with high-intensity statin therapy. In such individuals, lower LDL-C levels can be achieved by combining the statins with non-statin agents such as ezetimibe and PCSK9 inhibitors. Emerging non-statin lipid-lowering therapies and challenges in dyslipidaemia management are discussed in this article. The review also summarises the recent updates on local and international guidelines for dyslipidaemia management.
  14. Alawiah A, Bauk S, Marashdeh MW, Nazura MZ, Abdul-Rashid HA, Yusoff Z, et al.
    Appl Radiat Isot, 2015 Oct;104:197-202.
    PMID: 26188687 DOI: 10.1016/j.apradiso.2015.07.011
    In regard to thermoluminescence (TL) applied to dosimetry, in recent times a number of researchers have explored the role of optical fibers for radiation detection and measurement. Many of the studies have focused on the specific dopant concentration, the type of dopant and the fiber core diameter, all key dependencies in producing significant increase in the sensitivity of such fibers. At doses of less than 1 Gy none of these investigations have addressed the relationship between dose response and TL glow peak behavior of erbium (Er)-doped silica cylindrical fibers (CF). For x-rays obtained at accelerating potentials from 70 to 130 kVp, delivering doses of between 0.1 and 0.7 Gy, present study explores the issue of dose response, special attention being paid to determination of the kinetic parameters and dosimetric peak properties of Er-doped CF. The effect of dose response on the kinetic parameters of the glow peak has been compared against other fiber types, revealing previously misunderstood connections between kinetic parameters and radiation dose. Within the investigated dose range there was an absence of supralinearity of response of the Er-doped silica CF, instead sub-linear response being observed. Detailed examination of glow peak response and kinetic parameters has thus been shown to shed new light of the rarely acknowledged issue of the limitation of TL kinetic model and sub-linear dose response of Er-doped silica CF.
  15. Lee KW, Yusof Khan AHK, Ching SM, Chia PK, Loh WC, Abdul Rashid AM, et al.
    Front Neurol, 2020;11:579070.
    PMID: 33123082 DOI: 10.3389/fneur.2020.579070
    Background: As the world witnessed the devastation caused by the coronavirus disease 2019 (COVID-19) outbreak, a growing body of literature on COVID-19 is also becoming increasingly available. Stroke has increasingly been reported as a complication of COVID-19 infection. However, a systematic synthesis of the available data has not been conducted. Therefore, we performed a systematic review and meta-analysis of currently available epidemiological, clinical, and laboratory data related to both stroke and COVID-19 infection. Methods: We systematically searched Medline, Cinahl, and PubMed for studies related to stroke and COVID-19 from inception up to June 4, 2020. We selected cohort studies, case series, and case reports that reported the occurrence of stroke in COVID-19 patients. A fixed-effects model was used to estimate the pooled frequency of stroke in COVID-19 patients with a 95% confidence interval (CI). Results: Twenty-eight studies were included in the systematic review and seven studies for the meta-analysis. The pooled frequency of stroke in COVID-19 patients was 1.1% (95% CI: 0.8, 1.3). The heterogeneity was low (I2 = 0.0%). Even though the frequency of stroke among patients having COVID-19 infection was low, those with concomitant COVID-19 infection and stroke suffered from a more severe infection and eventually had a poorer prognosis with a higher mortality rate (46.7%) than COVID-19 alone. Many COVID-19 patients shared the common traditional risk factors for stroke. We noted that ischemic stroke involving the anterior circulation with large vessels occlusion is the most common type of stroke with more strokes seen in multi-territorial regions, suggesting systemic thromboembolism. An elevated level of D-dimers, C-reactive protein, ferritin, lactic acid dehydrogenase, troponin, ESR, fibrinogen, and a positive antiphospholipid antibody were also noted in this review. Conclusions: The occurrence of stroke in patients with COVID-19 infection is uncommon, but it may pose as an important prognostic marker and indicator of severity of infection, by causing large vessels occlusion and exhibiting a thrombo-inflammatory vascular picture. Physicians should be made aware and remain vigilant on the possible two-way relationship between stroke and COVID-19 infection. The rate of stroke among patients with COVID-19 infection may increase in the future as they share the common risk factors.
  16. Tan WY, Yusof Khan AHK, Mohd Yaakob MN, Abdul Rashid AM, Loh WC, Baharin J, et al.
    BMC Neurol, 2021 Oct 12;21(1):395.
    PMID: 34641797 DOI: 10.1186/s12883-021-02427-x
    BACKGROUND: Transverse myelitis (TM) is a relatively uncommon condition, and vaccine-associated myelitis is even rarer. Concern regarding neurological complications following vaccination escalated following the report of TM during the safety and efficacy trials of the COVID-19 vaccine.

    CASE PRESENTATION: We report the first case of Longitudinal Extensive Transverse Myelitis (LETM) in Malaysia following administration of the chimpanzee adenovirus-vectored (ChAdOx1 nCoV-19) vaccine. A 25-year-old female presented with bilateral lower limb weakness and inability to walk with a sensory level up to T8 with absent visual symptoms. Urgent gadolinium-enhanced magnetic resonance imaging (MRI) of the spine showed long segment TM over the thoracic region. Cerebrospinal fluid autoantibodies for anti-aquaporin-4 and anti-myelin-oligodendrocyte were negative. A diagnosis of LETM following vaccination was made, and the patient was started on a high dose of intravenous methylprednisolone. The patient eventually made a recovery following treatment.

    CONCLUSION: LETM is a rare but serious adverse reaction following vaccination. Previously reported cases showed an onset of symptoms between 10 to 14 days post-vaccination, suggesting a delayed immunogenic reaction. However, the incidence of myelitis in COVID-19 is much more common, far greater than the risk associated with vaccination.

  17. Abdul Rashid AM, Md Noh MSF, Yusof Khan AHK, Loh WC, Baharin J, Ibrahim A, et al.
    BMC Neurol, 2023 Feb 15;23(1):72.
    PMID: 36792988 DOI: 10.1186/s12883-023-03102-z
    BACKGROUND AND AIMS: The corononavirus 2019 (COVID-19) pandemic resulted in modifications in the workflow and redistribution of human resources, causing challenges in setting up of an acute stroke service. We would like to share our preliminary outcome amid this pandemic, to determine if the implementation of COVID-19 standard operating procedures (SOPs) affected the delivery of our hyperacute stroke service.

    METHODS: We retrospectively analyzed one-year data from our stroke registry that began with the establishment of our hyperacute stroke service at Universiti Putra Malaysia Teaching Hospital from April 2020 until May 2021.

    RESULTS: Setting up acute stroke services during the pandemic with constrained manpower and implementation of COVID-19 SOPs, was challenging. There was a significant dip of stroke admission from April to June 2020 due to the Movement Control Order (MCO) implemented by the government to curb the spread of COVID-19. However, the numbers of stroke admission steadily rose approaching 2021, after the implementation of recovery MCO. We managed to treat 75 patients with hyperacute stroke interventions i.e. intravenous thrombolysis (IVT), mechanical thrombectomy (MT) or both. Despite implementing COVID-19 SOPs and using magnetic resonance imaging (MRI) as our first line acute stroke imaging modality, clinical outcomes in our cohort were encouraging; almost 40% of patients who underwent hyperacute stroke treatment had early neurological recovery (ENR), and only 33% of patients had early neurological stability (ENS). In addition, we were able to maintain our door-to-imaging (DTI) and door-to-needle (DTN) time in line with international recommendations.

    CONCLUSIONS: Our data reflects that COVID-19 SOPs did not deter successful delivery of hyperacute stroke services in our center. However, bigger and multi center studies are required to support our findings.

  18. Musa NH, Thilakavathy K, Mohamad NA, Kennerson ML, Inche Mat LN, Loh WC, et al.
    Front Genet, 2022;13:972007.
    PMID: 36659963 DOI: 10.3389/fgene.2022.972007
    Myotonia congenita (MC) is a rare neuromuscular disease caused by mutations within the CLCN1 gene encoding skeletal muscle chloride channels. MC is characterized by delayed muscle relaxation during contraction, resulting in muscle stiffness. There is a lack of MC case reports and data on the prevalence among Malaysians. We report a clinical case of a 50-year-old woman presents with muscle stiffness and cramp episodes that started in early childhood. She had difficulty initiating muscle movement and presented with transient muscle weakness after rest, which usually improved after repeated contraction (warm-up phenomenon). She was diagnosed with MC after myotonic discharge on electromyography (EMG). Her brother had similar symptoms; however, no additional family members showed MC symptoms. Serum creatine kinase levels were elevated in both the proband and her brother with 447 U/L and 228 U/L recorded, respectively. Genetic analysis by whole-exome sequencing (WES) revealed a previously reported pathogenic CLCN1 gene variant c.1667T>A (p.I556N). Genetic screening of all family members revealed that the same variant was observed in the children of both the proband and her brother; however, the children did not present with either clinical or electrophysiological MC symptoms. The multiplex ligation-dependent probe amplification (MLPA) analysis conducted identified neither exon deletion nor duplication in CLCN1. In conclusion, this report describes the first case of MC in Malaysia in which incomplete penetrance observed in this family is caused by a known pathogenic CLCN1 variant.
  19. Mohamad Safiai NI, Mohamad NA, Basri H, Inche Mat LN, Hoo FK, Abdul Rashid AM, et al.
    PLoS One, 2021;16(6):e0251528.
    PMID: 34138860 DOI: 10.1371/journal.pone.0251528
    BACKGROUND: Migraine may lead to a negative impact on the patients' quality of life with a subsequent substantial burden to society. Therapy options for treatment and prevention of migraine have progressed over the years and repetitive transcranial magnetic stimulation (rTMS) is one of the promising non-pharmacological options. It induces and alters electric current in the brain via repetitive non-invasive brain stimulation in high frequency. In migraine patients, two common stimulation sites are the M1 cortex and dorsolateral prefrontal cortex (DLPFC). The mechanism on how rTMS exerts therapeutic effects on migraine is not fully established, but the main postulation is that the neuromodulation via high-frequency rTMS (hf-rTMS) might inhibit pain perception. However, evidence from studies has been conflicting, thus the usefulness of hf-rTMS as migraine preventive treatment is still uncertain at this moment.

    METHODS: This is a systematic review protocol describing essential reporting items based on the PRISMA for systematic review protocols (PRISMA-P) (Registration number: CRD42020220636). We aim to review the effectiveness, tolerability, and safety of hf-rTMS at DLPFC in randomised controlled trials (RCTs) as migraine prophylactic treatment. We will search Scopus, Cumulative Index to Nursing and Allied Health Literature Plus, PubMed, Cochrane Central Register of Controlled Trials and Biomed Central for relevant articles from randomised controlled clinical trials that used hf-rTMS applied at DLPFC for the treatment of migraine. The risk of bias will be assessed using the version 2 "Risk of bias" tool from Cochrane Handbook for Systematic Reviews of Interventions Version 6.1. We will investigate the evidence on efficacy, tolerability and safety and we will compare the outcomes between the hf-rTMS intervention and sham groups.

    DISCUSSION: This systematic review will further determine the efficacy, safety, and tolerability of hf-rTMS applied at DLPFC for migraine prophylaxis. It will provide additional data for health practitioners and policymakers about the usefulness of hf-rTMS for migraine preventive treatment.

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