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  1. Frassini S, Cobianchi L, Fugazzola P, Biffl WL, Coccolini F, Damaskos D, et al.
    World J Emerg Surg, 2023 Jul 26;18(1):42.
    PMID: 37496068 DOI: 10.1186/s13017-023-00511-w
    Laparotomy incisions provide easy and rapid access to the peritoneal cavity in case of emergency surgery. Incisional hernia (IH) is a late manifestation of the failure of abdominal wall closure and represents frequent complication of any abdominal incision: IHs can cause pain and discomfort to the patients but also clinical serious sequelae like bowel obstruction, incarceration, strangulation, and necessity of reoperation. Previous guidelines and indications in the literature consider elective settings and evidence about laparotomy closure in emergency settings is lacking. This paper aims to present the World Society of Emergency Surgery (WSES) project called ECLAPTE (Effective Closure of LAParoTomy in Emergency): the final manuscript includes guidelines on the closure of emergency laparotomy.
  2. Coccolini F, Improta M, Sartelli M, Rasa K, Sawyer R, Coimbra R, et al.
    World J Emerg Surg, 2021 08 09;16(1):40.
    PMID: 34372902 DOI: 10.1186/s13017-021-00380-1
    Immunocompromised patients are a heterogeneous and diffuse category frequently presenting to the emergency department with acute surgical diseases. Diagnosis and treatment in immunocompromised patients are often complex and must be multidisciplinary. Misdiagnosis of an acute surgical disease may be followed by increased morbidity and mortality. Delayed diagnosis and treatment of surgical disease occur; these patients may seek medical assistance late because their symptoms are often ambiguous. Also, they develop unique surgical problems that do not affect the general population. Management of this population must be multidisciplinary.This paper presents the World Society of Emergency Surgery (WSES), Surgical Infection Society Europe (SIS-E), World Surgical Infection Society (WSIS), American Association for the Surgery of Trauma (AAST), and Global Alliance for Infection in Surgery (GAIS) joined guidelines about the management of acute abdomen in immunocompromised patients.
  3. Austin A, De Silva U, Ilesanmi C, Likitabhorn T, Miller I, Sousa Fialho MDL, et al.
    Lancet Psychiatry, 2023 Dec;10(12):966-973.
    PMID: 37769672 DOI: 10.1016/S2215-0366(23)00265-1
    The effectiveness of mental health care can be improved through coordinated and wide-scale outcome measurement. The International Consortium for Health Outcomes Measurement has produced collaborative sets of outcome measures for various mental health conditions, but no universal guideline exists for eating disorders. This Position Paper presents a set of outcomes and measures for eating disorders as determined by 24 international experts from professional and lived experience backgrounds. An adapted Delphi technique was used, and results were assessed through an open review survey. Final recommendations suggest outcomes should be tracked across four domains: eating disorder behaviours and cognitions, physical health, co-occurring mental health conditions, and quality of life and social functioning. Outcomes are collected using three to five patient-reported measures. For children aged between 6 years and 12 years, the measures include the Children's Eating Attitude Test (or, for those with avoidant restrictive food intake disorder, the Eating Disorder in Youth Questionnaire), the KIDSCREEN-10, and the Revised Children's Anxiety and Depression Screener-25. For adolescents aged between 13 years and 17 years, the measures include the Eating Disorder Examination Questionnaire (EDE-Q; or, for avoidant restrictive food intake disorder, the Nine-Item Avoidant Restrictive Food Intake Disorder Screener [NIAS]), the two-item Patient Health Questionnaire (PHQ-2), the nine-item Patient Health Questionnaire (PHQ-9), the two-item Generalised Anxiety Disorder (GAD-2), the seven-item Generalised Anxiety Disorder (GAD-7), and the KIDSCREEN-10. For adults older than 18 years, measures include the EDE-Q (or, for avoidant restrictive food intake disorder, the NIAS), the PHQ-2, the PHQ-9, the GAD-2, the GAD-7, the Clinical Impairment Assessment, and the 12-item WHO Disability Assessment Schedule 2.0. These questionnaires should be supplemented by information on patient characteristics and circumstances (ie, demographic, historical, and clinical factors). International adoption of these guidelines will allow comparison of research and clinical interventions to determine which settings and interventions work best, and for whom.
  4. Ishaq M, Tran D, Wu Y, Nowak K, Deans BJ, Xin JTZ, et al.
    PMID: 33927690 DOI: 10.3389/fendo.2021.615446
    Asperuloside is an iridoid glycoside found in many medicinal plants that has produced promising anti-obesity results in animal models. In previous studies, three months of asperuloside administration reduced food intake, body weight, and adipose masses in rats consuming a high fat diet (HFD). However, the mechanisms by which asperuloside exerts its anti-obesity properties were not clarified. Here, we investigated homeostatic and nutrient-sensing mechanisms regulating food intake in mice consuming HFD. We confirmed the anti-obesity properties of asperuloside and, importantly, we identified some mechanisms that could be responsible for its therapeutic effect. Asperuloside reduced body weight and food intake in mice consuming HFD by 10.5 and 12.8% respectively, with no effect on mice eating a standard chow diet. Fasting glucose and plasma insulin were also significantly reduced. Mechanistically, asperuloside significantly reduced hypothalamic mRNA ghrelin, leptin, and pro-opiomelanocortin in mice consuming HFD. The expression of fat lingual receptors (CD36, FFAR1-4), CB1R and sweet lingual receptors (TAS1R2-3) was increased almost 2-fold by the administration of asperuloside. Our findings suggest that asperuloside might exert its therapeutic effects by altering nutrient-sensing receptors in the oral cavity as well as hypothalamic receptors involved in food intake when mice are exposed to obesogenic diets. This signaling pathway is known to influence the subtle hypothalamic equilibrium between energy homeostasis and reward-induced overeating responses. The present pre-clinical study demonstrated that targeting the gustatory system through asperuloside administration could represent a promising and effective new anti-obesity strategy.
  5. Gopalai AA, Lim SY, Chua JY, Tey S, Lim TT, Mohamed Ibrahim N, et al.
    Biomed Res Int, 2014;2014:867321.
    PMID: 25243190 DOI: 10.1155/2014/867321
    The LRRK2 gene has been associated with both familial and sporadic forms of Parkinson's disease (PD). The G2019S variant is commonly found in North African Arab and Caucasian PD patients, but this locus is monomorphic in Asians. The G2385R and R1628P variants are associated with a higher risk of developing PD in certain Asian populations but have not been studied in the Malaysian population. Therefore, we screened the G2385R and R1628P variants in 1,202 Malaysian subjects consisting of 695 cases and 507 controls. The G2385R and R1628P variants were associated with a 2.2-fold (P = 0.019) and 1.2-fold (P = 0.054) increased risk of PD, respectively. Our data concur with other reported findings in Chinese, Taiwanese, Singaporean, and Korean studies.
  6. Chan KF, Tan CW, Yeo DS, Tan HS, Tan FL, Tan EW, et al.
    J Occup Rehabil, 2011 Mar;21 Suppl 1:S69-76.
    PMID: 21328063 DOI: 10.1007/s10926-011-9289-1
    INTRODUCTION: Asia is the new and favored magnet of economic attention and foreign investments after it made an almost uneventful rebound from the depths of financial crisis of 2008/2009. Not many Western observers fully understand the diversity that is Asia other than perhaps its 2 growing economic giants of China and India. Indeed many smaller countries like Singapore and Malaysia in South East Asia along with Australia and Hong Kong (a Special Administrative Region within China) look to symbiotic relationships with these two economic giants. The purpose of this discussion paper is to examine the current issues related to the development and provision of occupational rehabilitation services in Singapore and Malaysia with a forward-looking view of how Asia's different developing societies could potentially benefit from better alignment of occupational rehabilitation practices and sharing of expertise through international collaboration and dialogue platforms.

    METHODS: Seven therapists and one physician who are frequently involved in occupational rehabilitation services in their home countries critically reviewed the current issues in Singapore and Malaysia which included analysis of the prevalence and cost of occupational injury; overview of workers' compensation system; current practices, obstacles, and challenges in providing occupational rehabilitation and return to work practices. They also offered opinions about how to improve the occupational rehabilitation programs of their two home countries.

    CONCLUSION: Even though Malaysia and Singapore are two different countries, in many ways their current provision of occupational rehabilitation services and the problems they face with are very similar. There is a lot of room for systemic improvements that require government support and action. Most prominently, the training of more healthcare professionals in the assessment and rehabilitation of the injured worker should be encouraged. There could be better liaison between the many stakeholders and more funding made available to develop resources and to jump start strategic programs. As these two countries are witnessing rapid economic growth, more resources should be allocated to establish holistic care of the injured workers emphasizing early interventions and prevention of chronic disabilities.

  7. Danov KD, Stanimirova RD, Kralchevsky PA, Slavova TG, Yavrukova VI, Ung YW, et al.
    J Colloid Interface Sci, 2021 Nov;601:474-485.
    PMID: 34090025 DOI: 10.1016/j.jcis.2021.05.147
    HYPOTHESIS: Many ionic surfactants with wide applications in personal-care and house-hold detergency show limited water solubility at lower temperatures (Krafft point). This drawback can be overcome by using mixed solutions, where the ionic surfactant is incorporated in mixed micelles with another surfactant, which is soluble at lower temperatures.

    EXPERIMENTS: The solubility and electrolytic conductivity for a binary surfactant mixture of anionic methyl ester sulfonates (MES) with nonionic alkyl polyglucoside and alkyl polyoxyethylene ether at 5 °C during long-term storage were measured. Phase diagrams were established; a general theoretical model for their explanation was developed and checked experimentally.

    FINDINGS: The binary and ternary phase diagrams for studied surfactant mixtures include phase domains: mixed micelles; micelles + crystallites; crystallites, and molecular solution. The proposed general methodology, which utilizes the equations of molecular thermodynamics at minimum number of experimental measurements, is convenient for construction of such phase diagrams. The results could increase the range of applicability of MES-surfactants with relatively high Krafft temperature, but with various useful properties such as excellent biodegradability and skin compatibility; stability in hard water; good wetting and cleaning performance.

  8. Sinnadurai S, Kwong A, Hartman M, Tan EY, Bhoo-Pathy NT, Dahlui M, et al.
    BJS Open, 2019 02;3(1):48-55.
    PMID: 30734015 DOI: 10.1002/bjs5.50111
    Background: Mastectomy rates among women with early breast cancer in Asia have traditionally been high. This study assessed trends in the surgical management of young women with early-stage breast cancer in Asian settings. Survival in women treated with breast-conserving surgery (BCS; lumpectomy with adjuvant radiotherapy) and those undergoing mastectomy was compared.

    Methods: Young women (aged less than 50 years) newly diagnosed with stage I or II (T1-2 N0-1 M0) breast cancer in four hospitals in Malaysia, Singapore and Hong Kong in 1990-2012 were included. Overall survival (OS) was compared for patients treated by BCS and those who had a mastectomy. Propensity score analysis was used to account for differences in demographic, tumour and treatment characteristics between the groups.

    Results: Some 63·5 per cent of 3536 women underwent mastectomy. Over a 15-year period, only a modest increase in rates of BCS was observed. Although BCS was significantly associated with favourable prognostic features, OS was not significantly different for BCS and mastectomy; the 5-year OS rate was 94·9 (95 per cent c.i. 93·5 to 96·3) and 92·9 (91·7 to 94·1) per cent respectively. Inferences remained unchanged following propensity score analysis (hazard ratio for BCS versus mastectomy: 0·81, 95 per cent c.i. 0·64 to 1·03).

    Conclusion: The prevalence of young women with breast cancer treated by mastectomy remains high in Asian countries. Patients treated with BCS appear to survive as well as those undergoing mastectomy.

  9. Choo WS, Foo S, Tan E, Thayaparan FS, Chung YY, Raman S, et al.
    Med J Malaysia, 2009 Mar;64(1):34-6.
    PMID: 19852318 MyJurnal
    This is a prospective study to determine the severity of disability and prognosis of acute stroke patients related to their Body Mass index (BMI). A total of 79 consecutive CT-scan-proven acute stroke patients who were admitted to Hospital Tuanku Ja'afar, Seremban between November 2006 and April 2007 were recruited (male:female 49:30; mean age 62.7 years; ischemic stroke 70, intracerebral bleed 9). The patients were divided according to BMI less than 25 (Group A) and equal or greater than 25 (Group B). Severity of disability was measured between 24-48 hours by modified Rankin's score. Patients were followed up after one month. Thirty-seven patients had severe disability (Rankin Score 5). Twenty-nine patients had adverse outcomes including 11 deaths and 18 rehospitalizations or prolonged hospital/nursing home stay. 34.3% of Group B had severe disability compared to 56.8% of Group A (chi2 P = 0.046). Conversely 42.9% of Group B had adverse events at one month compared to 31.8% of Group A (chi2 P = 0.312). There were no statistical differences between high- and low-BMI groups for gender ratio, smoking, hypertension, diabetes, prior cardiovascular disease, mean age, mean lipid profile and blood pressure. When comparing patients with Rankin Score 1-4 versus 5, age and BMI were statistically significant between the two groups. By multivariate analysis only age is independent predictor for severe disability (P < 0.05). The results of this pilot study should be confirmed in larger prospective multicentre trial.
  10. Tan EC, Lee BW, Tay AW, Chew FT, Tay AH
    Allergy, 1999 Apr;54(4):402-3.
    PMID: 10371104
  11. Tseng WS, Ebata K, Kim KI, Krahl W, Kua EH, Lu Q, et al.
    Int J Soc Psychiatry, 2001;47(1):8-23.
    PMID: 11322408
    Remarkable improvements in economic conditions and a considerable upgrade in the quality of life have been observed in many parts of Asia during the past several decades. At the same time, many mental health challenges face the people of Asia. Various social mental health indexes are reviewed here, with available data from China, Japan, Korea, Singapore, Malaysia, and other Asian societies. The data are compared with data from the United States, Australia in the Pacific Rim, and some other Western countries to examine patterns of similarity or difference between East and West in the process of modernization. Common trends in mental health issues associated with rapid sociocultural change observed in different Asian societies are discussed, as well as the relative shortage of mental health personnel available in many Asian societies. It is emphasized that, in addition to expanding psychiatric services, there is an even more urgent need to promote mental health knowledge and concern through education in the general population. Mental health needs to be cultivated and maintained by social forces and cultural strengths. It is stressed that there is a challenge for Asian people to advance mental health beyond economic development in the 21st century.
  12. Tham SN, Lim JJ, Tay SH, Chiew YF, Chua TN, Tan E, et al.
    Ann Acad Med Singap, 1988 Oct;17(4):482-5.
    PMID: 3265604
    410 cases of psoriasis [282 males (68%) and 127 females (31%)] were interviewed and examined to study the nail changes. The prevalence of nail changes was 78.0% (males = females). Common changes were pitting (67.5%) and onycholysis (67.2%). Dystrophy of varying degrees occurred in 35.0%, subungual hyperkeratosis in 24.7%, discoloration in 18.4%, loss of nails in 2.8% and pustulation in 1.3%. Pitting and onycholysis was the most common combination (45.6%). Nail changes were significantly more common in patients who have moderate to severe psoriasis as compared with patients with mild psoriasis; in patients who have psoriasis for greater than 5 years as compared with patients who have psoriasis for less than 5 years; and in patients older than age 50 as compared with those aged less than 50. A definite correlation was found between the prevalence of nail changes and the presence of scalp and periungual psoriasis, and the presence of joint involvement.
  13. Zhao Y, Tan EK, Law HY, Yoon CS, Wong MC, Ng I
    Clin Genet, 2002 Dec;62(6):478-81.
    PMID: 12485197
    We report the prevalence and ethnic differences of autosomal-dominant cerebellar ataxia (ADCA) in Singapore. Amongst 204 patients with ataxia who underwent genetic testing for dentatorubral-pallidoluysian atrophy (DRPLA) and for spinocerebellar ataxias (SCA) 1, 2, 3, 6, 7, 8, 10 and 12, 58 (28.4%) patients from 36 families tested positive. SCA 3 was identified in 31 (53.4%) patients from 15 families, SCA 2 in 17 (29.3%) patients from 12 families and SCA 1 in four (6.9%) patients from four families. Other SCA subtypes were rare. SCA 2 was the only subtype identified amongst ethnic Malay and ethnic Indian families. The estimated prevalence of ADCA in Singaporean families was at least 1 : 27,000. Based on the history and ancestry of Singaporeans, our study supported a founder effect for specific SCA subtypes and the association of ethnicity-specific SCA subtypes. Our findings suggest that SCA 2 is relatively common amongst the Malay race and that priority testing for SCA 3 and SCA 2 for ethnic Chinese, and SCA 2 for ethnic Malay, may be cost effective and relevant for the region.
  14. Rothan HA, Zulqarnain M, Ammar YA, Tan EC, Rahman NA, Yusof R
    Trop Biomed, 2014 Jun;31(2):286-96.
    PMID: 25134897 MyJurnal
    Dengue virus infects millions of people worldwide and there is no vaccine or anti-dengue therapeutic available. Screening large numbers of medicinal plants for anti-dengue activities is an alternative strategy in order to find the potent therapeutic compounds. Therefore, this study was designed to identify anti-dengue activities in nineteen medicinal plant extracts that are used in traditional medicine. Local medicinal plants Vernonia cinerea, Hemigraphis reptans, Hedyotis auricularia, Laurentia longiflora, Tridax procumbers and Senna angustifolia were used in this study. The highest inhibitory activates against dengue NS2B-NS3pro was observed in ethanolic extract of S. angustifolia leaves, methanolic extract of V. cinerea leaves and ethanol extract of T. procumbens stems. These findings were further verified by in vitro viral inhibition assay. Methanolic extract of V. cinerea leaves, ethanol extract of T. procumbens stems and at less extent ethanolic extract of S. angustifolia leaves were able to maintain the normal morphology of DENV2-infected Vero cells without causing much cytopathic effects (CPE). The percentage of viral inhibition of V. cinerea and T. procumbens extracts were significantly higher than S. angustifolia extract as measured by plaque formation assay and RT-qPCR. In conclusion, The outcome of this study showed that the methanolic extract of V. cinerea leaves and ethanol extract of T. procumbens stems possessed high inhibitory activates against dengue virus that worth more investigation.
  15. Kadar M, Wan Yunus F, Tan E, Chai SC, Razaob Razab NA, Mohamat Kasim DH
    Aust Occup Ther J, 2020 02;67(1):3-12.
    PMID: 31799722 DOI: 10.1111/1440-1630.12626
    INTRODUCTION: Handwriting skills play a significant role in all stages of an individual's life. Writing interventions should be considered at a younger age to ensure proper development of writing skills. Hence, the aims of this study is to evaluate the current evidence of occupational therapy interventions in handwriting skills for 4-6 year old children.

    METHODS: Published literature was systematically searched according to PRISMA guidelines using specific key terms. Initial search identified 785 studies; however only seven met the inclusion criteria and were assessed for final review. Studies were methodologically appraised using the McMaster Critical Review Form-Quantitative Studies.

    RESULTS: The review found no randomised control trial study design pertaining to the reviewed area. However, it can be seen that occupational therapy interventions for writing skills in 4-6 year old children managed to increase the targeted skills. The results were similar across samples with or without disabilities. An effective integration of occupational therapy interventions into educational curriculum was found to save both time and cost.

    CONCLUSION: The long-term benefit from these interventions and the effects of these interventions on a broader spectrum of fine motor abilities need to be explored further with stronger research designs. However, the lack of studies adopting high level study designs, i.e., RCT designs means, results need to be approached with caution by occupational therapists when implementing handwriting skills intervention in practice.

  16. Chua KH, Tan EW, Chai HC, Puthucheary SD, Lee PC, Puah SM
    PeerJ, 2020;8:e9238.
    PMID: 32518734 DOI: 10.7717/peerj.9238
    Background: Burkholderia pseudomallei causes melioidosis, a serious illness that can be fatal if untreated or misdiagnosed. Culture from clinical specimens remains the gold standard but has low diagnostic sensitivity.

    Method: In this study, we developed a rapid, sensitive and specific insulated isothermal Polymerase Chain Reaction (iiPCR) targeting bimA gene (Burkholderia Intracellular Motility A; BPSS1492) for the identification of B. pseudomallei. A pair of novel primers: BimA(F) and BimA(R) together with a probe were designed and 121 clinical B. pseudomallei strains obtained from numerous clinical sources and 10 ATCC non-targeted strains were tested with iiPCR and qPCR in parallel.

    Results: All 121 B. pseudomallei isolates were positive for qPCR while 118 isolates were positive for iiPCR, demonstrating satisfactory agreement (97.71%; 95% CI [93.45-99.53%]; k = 0.87). Sensitivity of the bimA iiPCR/POCKIT assay was 97.52% with the lower detection limit of 14 ng/µL of B. pseudomallei DNA. The developed iiPCR assay did not cross-react with 10 types of non-targeted strains, indicating good specificity.

    Conclusion: This bimA iiPCR/POCKIT assay will undoubtedly complement other methodologies used in the clinical laboratory for the rapid identification of this pathogen.

  17. Shafiee NH, Razalli NH, Mokhtar NM, Tan E, Ali RAR
    Intest Res, 2022 Jan;20(1):124-133.
    PMID: 33472341 DOI: 10.5217/ir.2020.00050
    BACKGROUND/AIMS: Substantial proportions of patients with constipation-predominant irritable bowel syndrome (IBS-C) linked their symptoms with particular intake of foods. However, there is lack of current data regarding the intake among IBS-C patients before any dietary interventions. Thus, this study aimed to evaluate the dietary adequacy among IBS-C against the standard recommended nutrient intake (RNI) and healthy controls.

    METHODS: A retrospective case-control study was conducted involving IBS-C patients and healthy control subjects. A validated 126-food items frequency questionnaire was administered to all the subjects to assess their dietary intake, guided by dietitians. The calculated nutrients intake for IBS-C patients was then compared against the standard RNI and healthy controls.

    RESULTS: A total of 306 subjects were recruited, among which 218 were diagnosed with IBS-C and 88 were included as healthy controls. IBS-C patients had significantly lower intake of wholegrain products, fried foods, dairy products, fruits, and vegetables compared to healthy controls. The daily intake of energy, certain macronutrients, and micronutrients among IBS-C patients was significantly lower than the healthy subjects. Less than 5% of IBS-C patients and healthy subjects achieved the standard recommendation for dietary fiber. Also, various vitamin intake (B1, B2, B6, folate, B12, E, K, and potassium) among IBS-C patients did not meet the standard RNI.

    CONCLUSIONS: Dietary intakes of IBS-C patients did not meet the recommended intake for Malaysian and showed the nutritional inadequacies compared to the control subjects. Our study highlighted the importance of dietary evaluation prior to planning strategies for dietary intervention targeting IBS-C patients.

  18. Ramanathan N, Tan E, Loh LJ, Soh BS, Yap WN
    Nutr Metab (Lond), 2018;15:6.
    PMID: 29387138 DOI: 10.1186/s12986-018-0244-4
    Ageing is a nonmodifiable risk factor that is linked to increased likelihood of cardiovascular morbidities. Whilst many pharmacological interventions currently exist to treat many of these disorders such as statins for hypercholesterolemia or beta-blockers for hypertension, the elderly appear to present a greater likelihood of suffering non-related side effects such as increased risk of developing new onset type 2 diabetes (NODM). In some cases, lower efficacy in the elderly have also been reported. Alternative forms of treatment have been sought to address these issues, and there has been a growing interest in looking at herbal remedies or plant-based natural compounds. Oxidative stress and inflammation are implicated in the manifestation of ageing-related cardiovascular disease. Thus, it is natural that a compound that possesses both antioxidative and anti-inflammatory bioactivities would be considered. This review article examines the potential of tocotrienols, a class of Vitamin E compounds with proven superior antioxidative and anti-inflammatory activity compared to tocopherols (the other class of Vitamin E compounds), in ameliorating ageing-related cardiovascular diseases and its associated morbidities. In particular, the potential of tocotrienols in improving inflammaging, dyslipidemia and mitochondrial dysfunction in ageing-related cardiovascular diseases are discussed.
  19. Kuan SW, Chua KH, Tan EW, Tan LK, Loch A, Kee BP
    PeerJ, 2022;10:e13265.
    PMID: 35441061 DOI: 10.7717/peerj.13265
    Cardiomyopathy (CMP) constitutes a diverse group of myocardium diseases affecting the pumping ability of the heart. Genetic predisposition is among the major factors affecting the development of CMP. Globally, there are over 100 genes in autosomal and mitochondrial DNA (mtDNA) that have been reported to be associated with the pathogenesis of CMP. However, most of the genetic studies have been conducted in Western countries, with limited data being available for the Asian population. Therefore, this study aims to investigate the mutation spectrum in the mitochondrial genome of 145 CMP patients in Malaysia. Long-range PCR was employed to amplify the entire mtDNA, and whole mitochondrial genome sequencing was conducted on the MiSeq platform. Raw data was quality checked, mapped, and aligned to the revised Cambridge Reference Sequence (rCRS). Variants were named, annotated, and filtered. The sequencing revealed 1,077 variants, including 18 novel and 17 CMP and/or mitochondrial disease-associated variants after filtering. In-silico predictions suggested that three of the novel variants (m.8573G>C, m.11916T>A and m.11918T>G) in this study are potentially pathogenic. Two confirmed pathogenic variants (m.1555A>G and m.11778G>A) were also found in the CMP patients. The findings of this study shed light on the distribution of mitochondrial mutations in Malaysian CMP patients. Further functional studies are required to elucidate the role of these variants in the development of CMP.
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