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  1. Thevi T, Abas AL
    Kathmandu Univ Med J (KUMJ), 2021 6 25;18(72):414-419.
    PMID: 34165102
    Bauxite is an ore from which Aluminium is produced. Malaysia, once the leading producer of bauxite has reduced production as mining activity has caused community outrage. Due to concerns about health concerns, rising pollution and environmental hazards, the government has revoked the licenses of bauxite miners. We therefore did a meta-analysis to assess the relationship between exposure to Bauxite and Alumina with incidence of various types of cancers. Bauxite mines and alumina refineries. Individuals of all ages exposed to Bauxite and Alumina. Exposure to bauxite and alumina. Incidence due to overall cancers and specific types of cancers. Exposure to bauxite and alumina did not cause variations in incidence of overall cancer and specific types of cancer such as cancer of lip, cancer of the oral cavity and pharynx, cancer of digestive organs and others. We conclude that there is no evidence that bauxite or alumina exposure cause increase incidence of cancer but due to the small number of studies included in this review, we recommend more cohort studies to be done in future.
    Matched MeSH terms: Malaysia
  2. Kyaw Soe HH, Than NN, Lwin H, Nu Htay MNN, Phyu KL, Abas AL
    PMID: 29629384 DOI: 10.4103/jehp.jehp_61_17
    CONTEXT: Scientific research not only promotes health and combats diseases of an individual, but also it can strengthen the effectiveness of health systems. Hence, understanding of scientific methods becomes a crucial component in the medical profession.
    AIMS: This study was conducted to assess the knowledge, attitudes, and barriers toward research among undergraduate medical and dental students.
    SETTINGS AND DESIGN: This cross-sectional study was conducted among 295 undergraduate Bachelor of Medicine and Bachelor of Surgery (MBBS) and Bachelor of Dental Surgery (BDS) students from a private medical college in Malaysia.
    MATERIALS AND METHODS: We purposively selected 360 students attending the 3rd, 4th, and 5th year in MBBS course and BDS course in September 2015. A total of 295 students who were willing to provide written informed consent were included in this study. We collected data using a validated, self-administered, structured questionnaire which included 20 questions about knowledge toward scientific research, 21 attitude items in regard to scientific research, a list of 10 barriers toward conducting medical research, and 5 questions of confidence to conduct the medical research.
    STATISTICAL ANALYSIS USED: Data were analyzed using descriptive statistics, independent t-test, ANOVA, and multiple linear regression.
    RESULTS: Among the students, 56.9% had moderate knowledge while the majority (83.3%) had moderate attitude toward scientific research. The majorly cited barriers were the lack of time (79.9%), lack of knowledge and skills (72.1%), lack of funding (72.0%) and facilities (63.6%), and lack of rewards (55.8%). There was a significant association between age, academic year, and knowledge of research as the older age group, and 4th- and 5th-year students had higher knowledge score. The students of higher attitude score had better-perceived barriers score toward research with regression coefficient 0.095 (95% confidence interval 0.032-0.159).
    CONCLUSIONS: Even though the students had the positive attitudes toward scientific research, a supportive and positive environment is needed to improve skills and knowledge of research and to overcome the barriers toward the conduct of scientific research.
    Study site: Melaka-Manipal Medical College (MMMC), Melaka, Malaysia
    Matched MeSH terms: Malaysia
  3. Soe HHK, Than NN, Lwin H, Phyu KL, Htay MNN, Moe S, et al.
    J Family Med Prim Care, 2018 9 21;7(4):756-761.
    PMID: 30234049 DOI: 10.4103/jfmpc.jfmpc_300_17
    Background: Disease surveillance is one of the major components to combat against infectious diseases. As health-care professionals are indispensable to mandatory notifiable disease surveillance, their knowledge and attitudes toward infectious disease notification played an important role for timely and effective reporting to the surveillance system. Therefore, we aimed to determine the knowledge of mandatory notifiable infectious diseases in Malaysia and attitude towards infectious disease reporting among final year medical students.

    Methods: A cross-sectional study was conducted from May to June 2017 in the private medical college in Malaysia.

    Materials and Methods: We purposively selected the final year (semester 10) medical students and a total of 124 students participated in this study. We collected data using a self-administered, structured questionnaire. Data were analyzed using descriptive statistics, independent t-test, and one-way analysis of variance.

    Results: Among the final year medical students, 47.5% had moderate knowledge but 4.2% had good knowledge of mandatory infectious disease notification. Only 3.2% of the students correctly answered all the notifiable diseases listed in the questionnaire. Most of the students had positive attitude toward communicable diseases reporting, rewards, and penalty for notification. There was no significant relationship between sociodemographic characteristics and knowledge and attitude of infectious disease notification.

    Conclusions: The majority of the final year medical students had moderate level of knowledge and positive attitude of infectious disease notification; however, there were some deficiencies. Better instruction and training on infectious disease notification procedures of Malaysia should be provided to the final year medical students which could not only reduce underreporting but also improve timely and effective reporting in future.

    Matched MeSH terms: Malaysia
  4. Thevi T, Maizura Z, Abas AL
    Indian J Ophthalmol, 2017 Jan;65(1):24-29.
    PMID: 28300736 DOI: 10.4103/ijo.IJO_452_16
    INTRODUCTION: As in all surgeries, complications during cataract surgery are unavoidable and cause distress to the surgeon and the patient. This study was conducted to know the factors contributing to complications in our settings, to be able to counsel patients about complications and outcomes and to reduce litigations.

    MATERIALS AND METHODS: The secondary data analysis was conducted using the National Eye Database from 2007 to 2014. Demographic features, ocular comorbidities, technique of surgery, grade of surgeons, types of intraoperative complications, and reasons for not obtaining good visual acuity following intraoperative complications were studied. Statistics was done using Statistical Package for Social Sciences version 20.

    RESULTS: Out of 12,992 eyes, 6.1% had intraoperative complications. The highest rate of complications was when more trainees (medical officers [MOs] and gazetting specialists) operated. Posterior capsule rupture (PCR) was the most common complication followed by vitreous loss and zonular dehiscence. Those aged below 40 years had more complications (P < 0.05), and females had more complications. Ethnicity did not affect complications. Pseudoexfoliation was the only comorbidity causing complications (P < 0.05). Phacolytic lenses had 8.118 times the odds of getting intraoperative complications. MOs and gazetting specialists got more complications. Good outcomes were obtained in cases without complications and those operated by specialists. High astigmatism was the main reason for poorer outcomes.

    CONCLUSION: Intraoperative complications were caused mostly by less experienced doctors and had poorer outcomes. Age below 40 years, females, the presence of pseudoexfoliation and phacolytic lenses had more complications. PCR was the most common complication.

    Matched MeSH terms: Malaysia/epidemiology
  5. Wong PL, Fauzi NA, Mohamed Yunus SN, Abdul Hamid NA, Abd Ghafar SZ, Azizan A, et al.
    Molecules, 2020 Jul 06;25(13).
    PMID: 32640504 DOI: 10.3390/molecules25133067
    Plants and plant-based products have been used for a long time for medicinal purposes. This study aimed to determine the antioxidant and anti-α-glucosidase activities of eight selected underutilized plants in Malaysia: Leucaena leucocephala, Muntingia calabura, Spondias dulcis, Annona squamosa, Ardisia elliptica, Cynometra cauliflora, Ficus auriculata, and Averrhoa bilimbi. This study showed that the 70% ethanolic extract of all plants exhibited total phenolic content (TPC) ranging from 51 to 344 mg gallic acid equivalent (GAE)/g dry weight. A. elliptica showed strong 2,2-diphenyl-1-picrylhydrazyl (DPPH) and nitric oxide (NO) scavenging activities, with half maximal inhibitory concentration (IC50) values of 2.17 and 49.43 μg/mL, respectively. Most of the tested plant extracts showed higher inhibition of α-glucosidase enzyme activity than the standard, quercetin, particularly A. elliptica, F. auriculata, and M. calabura extracts with IC50 values of 0.29, 0.36, and 0.51 μg/mL, respectively. A total of 62 metabolites including flavonoids, triterpenoids, benzoquinones, and fatty acids were tentatively identified in the most active plant, i.e., A. elliptica leaf extract, by using ultra-high-performance liquid chromatography (UHPLC)-electrospray ionization (ESI) Orbitrap MS. This study suggests a potential natural source of antioxidant and α-glucosidase inhibitors from A. elliptica.
    Matched MeSH terms: Malaysia
  6. Khoo LW, Audrey Kow S, Lee MT, Tan CP, Shaari K, Tham CL, et al.
    PMID: 30105077 DOI: 10.1155/2018/9276260
    Clinacanthus nutans (Burm.f.) Lindau (Acanthaceae), commonly known as Sabah snake grass, is a vegetable and a well-known herb that is considered an alternative medicine for insect bites, skin rashes, herpes infection, inflammation, and cancer and for health benefits. Current review aims to provide a well-tabulated repository of the phytochemical screening, identification and quantification, and the pharmacological information of C. nutans according to the experimental design and the plant preparation methods which make it outstanding compared to existing reviews. This review has documented valuable data obtained from all accessible library databases and electronic searches. For the first time we analyzed the presence of flavonoids, triterpenoids, steroids, phytosterols, and glycosides in C. nutans based on the results from phytochemical screening which are then further confirmed by conventional phytochemical isolation methods and advanced spectroscopic techniques. Phytochemical quantification further illustrated that C. nutans is a good source of phenolics and flavonoids. Pharmacological studies on C. nutans revealed that its polar extract could be a promising anti-inflammation, antiviral, anticancer, immune and neuromodulating, and plasmid DNA protective agent; that its semipolar extract could be a promising antiviral, anticancer, and wound healing agent; and that its nonpolar extract could be an excellent anticancer agent.
    Matched MeSH terms: Malaysia
  7. Tay KS, Rahman NA, Abas MR
    Water Environ Res, 2011 Aug;83(8):684-91.
    PMID: 21905405
    This study investigated the removal of parabens, N,N-diethyl-m-toluamide (DEET), and phthalates by ozonation. The second-order rate constants for the reaction between selected compounds with ozone at pH 7 were of (2.2 +/-0.2) X 10(6) to (2.9 +/-0.3) X 10(6) M 1/s for parabens, (2.1+/- 0.3) to (3.9 +/-0.5) M-1/s for phthalates, and (5.2 +/-0.3) M-1/s for DEET. The rate constants for the reaction between selected compounds with hydroxyl radical ranged from (2.49 +/-0.06) x 10(9) to (8.5 +/-0.2) x 10(9) M-1/s. Ozonation of selected compounds in secondary wastewater and surface waters revealed that ozone dose of 1 and 3 mg/L yielded greater than 99% depletion of parabens and greater than 92% DEET and phthalates, respectively. In addition, parabens were found to transform almost exclusively through the reaction with ozone, while DEET and phthalates were transformed almost entirely by hydroxyl radicals (.OH).
    Matched MeSH terms: Malaysia
  8. Omar NY, Mon TC, Rahman NA, Abas MR
    Sci Total Environ, 2006 Oct 1;369(1-3):76-81.
    PMID: 16766020
    The concentrations and distributions of particle bound polycyclic aromatic hydrocarbons (PAHs) collected over a 10 month period in ambient environment, at street levels as well as during a hazy episode are reported. Ambient and street level distributions of PAHs were similar and their occurrence was attributed to vehicular emissions. However, in haze particles, a different pattern of PAHs was observed, characterized by relatively low levels of benzo[a]pyrene (BaP) and high levels of benzofluoranthenes (BFs). The BaP equivalency results showed that the potential health risk associated with haze smoke particles was 4 times higher than that of street level particles whereas the lowest health risk was associated with ambient atmospheric particles.
    Matched MeSH terms: Malaysia
  9. Mala-Maung, Abdullah A, Abas ZW
    Med J Malaysia, 2011 Dec;66(5):435-9.
    PMID: 22390096 MyJurnal
    This cross-sectional study determined the appreciation of the learning environment and development of higher-order learning skills among students attending the Medical Curriculum at the International Medical University, Malaysia which provides traditional and e-learning resources with an emphasis on problem based learning (PBL) and self-directed learning. Of the 708 participants, the majority preferred traditional to e-resources. Students who highly appreciated PBL demonstrated a higher appreciation of e-resources. Appreciation of PBL is positively and significantly correlated with higher-order learning skills, reflecting the inculcation of self-directed learning traits. Implementers must be sensitive to the progress of learners adapting to the higher education environment and innovations, and to address limitations as relevant.
    Matched MeSH terms: Malaysia
  10. Rukayadi, Y., Lau, K.Y., Zainin, N.S., Zakaria, M., Abas, F.
    MyJurnal
    Edible medicinal plants are often used in the treatment of various ailments and spice in traditional food preparation. In this study, 45 of tropical edible medicinal plants extracts from Indonesia, Malaysia, and Thailand were screened for their antimicrobial activity against five standard microorganisms for food preservative namely Aspergillus niger, Candida albicans, Escherichia coli, Pseudomonas aeruginosa and Staphylococcus aureus. The methanol extracts of Piper nigrum L. seed, Piper cubeba L. seed, and the root of Ligusticum acutilobum Siebold and Zucc. showed antimicrobial activity against five species of standard microorganisms. Among them, P. cubeba L. extract demonstrated the most susceptible against all tested microorganisms. Minimal inhibitory concentration (MIC) and minimal bactericidal or fungicidal concentration (MBC or MFC) were performed by the broth microdilution techniques as described by the Clinical and Laboratory Standard Institute. MIC values of P. cubeba L. extract to A. niger, C. albicans, E. coli, P. aeruginosa and S. aureus were 12.8, 1.6, 3.2, 6.4, and 1.6 mg/ml, respectively. P. cubeba extract killed A. niger, C. albicans, E. coli, P. aeruginosa and S. aureus with MBC values of 25.6, 3.2, 6.4, 12.8, and 3.2 mg/ml, respectively. The potent antimicrobial activity of P. cubeba L. extract may support its use for natural food preservative.
    Matched MeSH terms: Malaysia
  11. Romaino SM, Fazly-Ann ZA, Loo SS, Hafiz MM, Hafiz MD, Iswadi MI, et al.
    Genet. Mol. Res., 2014;13(1):406-14.
    PMID: 24535867 DOI: 10.4238/2014.January.21.8
    Mitochondrial DNA (mtDNA) is a useful genetic marker that can be used for species identification. The cytochrome b (Cyt b) gene is a suitable mtDNA candidate gene for use in phylogenetic analyses due to its sequence variability, which makes it appropriate for comparisons at the subspecies, species, and genus levels. This study was conducted to develop a rapid molecular method for species identification of Malayan gaur (Bos gaurus hubbacki), Kedah-Kelantan (KK) (Bos indicus), and Bali (Bos javanicus) cattle in Malaysia. DNA was extracted from blood samples of 8 Malayan gaurs, 30 KK, and 28 Bali cattle. A set of both specific and universal primers for the Cyt b gene were used in PCR amplification. DNA sequences obtained were then analyzed using BioEdit and Restriction Mapper softwares. The PCR products obtained from Cyt b gene amplification were then subjected to restriction enzyme digestion. The amplification, using both specific and universal primers, produced a 154- and a 603-bp fragment, respectively, in all three species. Two restriction enzymes, NlaIV and SspI, were used to obtain specific restriction profiles that allowed direct identification of Malayan gaur, KK, and Bali cattle. Our findings indicate that all three species can be identified separately using a combination of universal primers and the restriction enzyme SspI.
    Matched MeSH terms: Malaysia
  12. Lim TW, Burhainuddin M, Abbas A
    Med J Malaya, 1972 Dec;27(2):147-9.
    PMID: 4268041
    Matched MeSH terms: Malaysia
  13. Lasekan O, Abbas K
    Food Chem Toxicol, 2010 Aug-Sep;48(8-9):2212-6.
    PMID: 20510332 DOI: 10.1016/j.fct.2010.05.050
    Considering the importance of tropical almond nuts as a snack item, a study was conducted to identify the flavour volatiles and acrylamide generated during the roasting of the nuts. The supercritical fluid extracted flavour components revealed 74 aroma active compounds made up of 27 hydrocarbons, 12 aldehydes, 11 ketones, 7 acids, 4 esters, 3 alcohols, 5 furan derivatives a pyrazine, and 2 unknown compounds. While low levels of acrylamide (8-86 microg/kg) were obtained in the roasted nuts, significant (P<0.05) increases occurred in concentration with increased roasting temperature and time. Carboxylic acids were the most abundant volatiles in the roasted almond nuts and less significant (P>0.05) concentration of acrylamide was generated with mild roasting and shorter roasting period.
    Matched MeSH terms: Malaysia
  14. Jabeen R, Rabbani U, Abbas N
    J Pak Med Assoc, 2021 Nov;71(11):2611-2616.
    PMID: 34783745 DOI: 10.47391/JPMA.01204
    Universal health coverage is a global agenda and, currently for Pakistan, achieving this goal is a challenge because of a number of constraints. The current narrative review was planned to describe an overview of the provision of health insurance in Malaysia, Thailand and Singapore that have achieved universal health coverage, and to propose a roadmap for Pakistan. Literature search was conducted on Google Scholar and PubMed databases as well as on the World Bank website to retrieve relevant articles. The three studied countries achieved universal health coverage by gradually increasing allocation for health and through various mechanisms, such as health insurance schemes which covered different segments of the population, and partnerships with private-sector care-providers. Pakistan needs to prioritise health in policy agenda because health insurance is negligible in Pakistan. Additionally, Pakistan also needs to efficiently utilise partnerships with the private sector to further increase healthcare coverage.
    Matched MeSH terms: Malaysia
  15. Akram S, Najam R, Rizwani GH, Abbas SA
    Pak J Pharm Sci, 2015 Sep;28(5):1781-7.
    PMID: 26408897
    This study depicts a profile of existence of heavy metals (Cu, Ni, Zn, Cd, Hg, Mn, Fe, Na, Ca, and Mg) in some important herbal plants like (H. Integrifolia, D. regia, R. communis, C. equisetifolia, N. oleander, T. populnea, M. elengi, H. schizopetalus, P. pterocarpum) from Pakistan and an antidiabetic Malaysian herbal drug product containing (Punica granatum L. (Mast) Hook, Momordica charantia L., Tamarindus indica L., Lawsonia inermis L.) using atomic absorption spectrophotometer. Heavy metals in these herbal plants and Malaysian product were in the range of 0.02-0.10 ppm of Cu, 0.00-0.02 ppm of Ni, 0.02-0.29 ppm of Zn, 0.00-0.04 ppm of Cd, 0.00-1.33 ppm of Hg, 0.00-0.54 ppm of Mn, 0.22-3.16 ppm of Fe, 0.00-9.17 ppm of Na, 3.27-15.63 ppm of Ca and 1.85-2.03 ppm of Mg. All the metals under study were within the prescribed limits except mercury. Out of 10 medicinal plants/product under study 07 were beyond the limit of mercury permissible limits. Purpose of this study is to determine heavy metals contents in selected herbal plants and Malaysian product, also to highlight the health concerns related to the presence of toxic levels of heavy metals.
    Matched MeSH terms: Malaysia
  16. Mathews A, Ming LC, Che Rose FZ, Abbas SA
    Cureus, 2020 Aug 20;12(8):e9903.
    PMID: 32839684 DOI: 10.7759/cureus.9903
    Background Without stipulated legislation, a free pricing policy can lead to a disparity in prices among private healthcare setups. Competition is especially rampant among community pharmacies, especially in the Sabah state of Malaysia, where the recent years have witnessed the steady growth of pharmacy players from Peninsular Malaysia. Thus, this study aimed to examine the impact of price competition and discount pricing on the practice of community pharmacy in Sabah, Malaysia. Methods This was a cross-sectional study using an online questionnaire. Survey participants included community pharmacists practicing in Sabah. The validated and pilot-tested questionnaire consisted of three parts: background information of the pharmacy, attitudes and perception toward medicine prices, and practice of discount pricing. All required data were collected from community pharmacists practicing only in Sabah. Data were then analyzed by using descriptive, Chi-Square, and Kendall's tau-b tests. Results Of the 150 community pharmacists contacted, only 70 responded, providing a response rate of 47%. In terms of pharmacy type, 71% of the respondents were pharmacist-owned independent pharmacies, while 19% were pharmacy chains owned by community pharmacists. The remaining were pharmacies owned by non-pharmacists (10%). Sixty percent of the community pharmacies had been in existence for more than 10 years, with 12% in existence for less than two years, and 28% in existence for three to 10 years. More than 80% of the respondents stated that the business aspect of community pharmacy had overwhelmed the professional practice aspects and that community pharmacists have become providers of products instead of providers of care. In terms of professionalism, 87% also noted that they are being perceived as profiteering in the medicine business at the expense of patients. Conclusions The free market situation in Malaysia for medicine pricing has brought a detrimental consequence for community pharmacists with each one trying to undercut prices. Differing pricing mechanisms of medicines based on the quantity ordered contribute to the problem of discount pricing and price competition. Most community pharmacists, as indicated by this study, want the problem to be addressed.
    Matched MeSH terms: Malaysia
  17. Sohayla M Attalla, Abby Amira Bt Rome
    MyJurnal

    Introduction: Domestic violence is a serious issue that has often been overlooked by the society. It includes any physical, emotional or sexual violence that occurs between family members. Year after year, many cases of domestic violence have been reported in news and the numbers keep increasing from time to time. Experiencing this violence may give negative impacts on the victim. This study aimed to determine the prevalence of domestic violence among university students in Selangor, Malaysia and to discover its effects on their academic achievement. Methods: A cross-sectional study was implemented in a form of questionnaire that was distributed to 368 university students at Selangor, Malaysia in the period from June 2018 to December 2018. Results: Results showed that 69 respondents (18.7%) had experienced DV throughout their life; all of them suffered physical violence, 95.7% had suffered emo- tional violence while 14.5% had suffered sexual violence. Age, gender, residence, family income, institution’s type and speciality of study has no significant association with DV while, race, religion and parents’ status were signifi- cantly associated with DV. Also it was noticed that out of these 69 respondents that had experience of domestic violence, 36 of them were studying in private universities and 33 of them were studying in public universities. Most of those experienced domestic violence showed low CGPA. Conclusion: It is concluded that there is low prevalence of DV among university students in Selangor. Experiencing DV during childhood has an impact on the academic achievement of the victim in the future university life.
    Matched MeSH terms: Malaysia
  18. Muhamad, N.A.R., Tuan Hairulnizam, T.K., Jessie, D.H., Rashidi, A., Jeewadas, B., Isa, A.Z., et al.
    MyJurnal
    Flying feather is a traditional street weapon, which is believed to be originated from Philippine. It is a famous weapon in Tawau, Sabah, shot within short distance and being used with the aim to debilitate the victims. Some may even apply poison at the tip of the weapon. We report two cases of severe chest injuries in resulting from flying feathers. Case 1, a 25-year old man sustained left sided hemothorax with anterior right ventricle injury. He underwent thoracotomy and was discharged well. Case 2, a 40-year old man, presented to emergency department with no signs of life, sustained penetrating injury to the left second intercostal muscle, the pericardium and the anterior wall of the right ventricle adjacent to the interventricular septum. These cases highlight the severity spectrum of cardiac injury resulting from flying feathers.
    Matched MeSH terms: Malaysia
  19. Lee ML, Hassali MA, Shafie AA, Abd Aziz AM
    Nicotine Tob Res, 2011 Jun;13(6):504-5.
    PMID: 21447841 DOI: 10.1093/ntr/ntr052
    Matched MeSH terms: Malaysia
  20. Mohd Nawawi N, Selveindran NM, Rasat R, Chow YP, Abdul Latiff Z, Syed Zakaria SZ, et al.
    Clin Chim Acta, 2018 Sep;484:141-147.
    PMID: 29807018 DOI: 10.1016/j.cca.2018.05.048
    BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic bone disease characterized by bone fragility and low bone mass. OI was mainly caused by genetic mutations in collagen genes, COL1A1 and COL1A2. Nevertheless, new genes have been identified to be causally linked to OI. The clinical features between each OI groups share great similarities and it is sometimes difficult for clinicians to diagnose the disease accurately. Here, we identify the genetic mutations of OI patients from Malaysia and correlate the genetic mutations with the clinical features.

    METHOD: Targeted sequencing of fourteen genes panel was performed to identify the mutations in 29 OI patients with type I, III, IV and V disease. The mutations were determined using Ion Torrent Suite software version 5 and variant annotation was conducted using ANNOVAR. The identified mutations were confirmed using Sanger sequencing and in silico analysis was performed to evaluate the effects of the candidate mutations at protein level.

    RESULTS: Majority of patients had mutations in collagen genes, 48% (n = 14) in COL1A1 and 14% (n = 4) in COL1A2. Type I OI was caused by quantitative mutations in COL1A1 whereas most of type III and IV were due to qualitative mutations in both of the collagen genes. Those with quantitative mutations had milder clinical severity compared to qualitative mutations in terms of dentinogenesis imperfecta (DI), bone deformity and the ability to walk with aid. Furthermore, a few patients (28%, n = 8) had mutations in IFITM5, BMP1, P3H1 and SERPINF1.

    CONCLUSION: Majority of our OI patients have mutations in collagen genes, similar to other OI populations worldwide. Genotype-phenotype analysis revealed that qualitative mutations had more severe clinical characteristics compared to quantitative mutations. It is crucial to identify the causative mutations and the clinical severity of OI patients may be predicted based on the types of mutations.

    Matched MeSH terms: Malaysia
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