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  1. Fazliah, S.N., Jaafar, S., Shamsuddin, S., Zainudin, Z., Hilmi, A.B., Razila, A.R., et al.
    ASM Science Journal, 2010;4(1):1-14.
    MyJurnal
    Stem cells from human extracted deciduous teeth (SHED) have the ability to multiply much faster and double their population in culture at a greater rate, indicating that it may be in a more immature state than other type of adult stem cells. Mesenchymal stem cells (MSC) from human primary molars were isolated and cultured in media supplemented with 20% fetal bovine serum. The MSCs were confirmed using CD 105 and CD 166 and the identification of the osteoblast cells were done using reverse transcriptase polymerase chain reaction (RT-PCR) analysis. Differentiated osteoblast cells (DOC) were characterized by alkaline phosphotase and von Kossa staining followed by immunocytochemistry staining using osteocalcin and osteonectin antibodies. Further validation of SHED was done by RT-PCR to detect the presence of insulin-like growth factor 2 (IGF-2) and discoidin domain tyrosine kinase-2 (DDTK-2) transcripts, while the presence of Runx-2 mRNA was used to characterize DOC. The results showed that SHED was found positive for CD 105 and CD 166 and could differentiate into osteoblast, bone forming cells. The findings revealed the presence of distinct MSC population which had the capability to generate living human cells that could be a possible source for tissue engineering in the future.
  2. Mohd Hilmi, A.B., Fazliah, S.N., Siti Fadilah, A., Asma, H., Siti Razila, A.R., Shaharum, S., et al.
    MyJurnal
    The aim of this study was to isolate stem cells from dental pulp of primary molars and incisors to be used as possible source for tissue engineering. Human primary molars and incisors were collected from subjects aged 4-7 year-old under standardized procedures. Within 24 hours, the tooth was cut at the cemento-enamel junction using hard tissue material cutter. The dental pulp tissue was extracted, digested and then cultured in Alpha Modified Eagles's Medium (α-MEM) supplemented with 20% FCS, 100 mM L-ascorbic acid 2-phosphate, 200 mM L-glutamine and 5000 units/ml Penicillin/Streptomycin. The cells were observed daily under the microscope until confluence. Children's tooth pulp- derived progenitor cells were found positive for stem cell markers CD105 and CD166, which are consistent with the finding for mesenchymal stem cells (MSCs) from bone marrow.
  3. Kamaliah MN, Jaafar S, Ehsan FZ, Safiee I, Ismail F, Mohd Saleh N, et al.
    DOI: 10.1186/1472-6963-9-S1-A7
    Introduction. Malaysian health care is a parallel system with both public and private sectors. The MOH (Ministry of Health) is the main provider of health services in the country, delivering comprehensive medical, health, dental and pharmaceutical services at primary, secondary and tertiary levels of care. The public health services are heavily subsidized by the government. The practice of financial distribution within the Ministry of Health of Malaysia has traditionally been dependent on historical information, i.e., looking at past performance. Any additional increment has been based on arbitrary predictions of the consumer index or inflation. A more appropriate distribution would be based not only on the volume of patients, but also on the morbidity profiles of these populations. Because of the development of the TPC (Tele-Primary Care) electronic system, considerable data is now collected, and there exists a vast potential for data-mining. One potential area of study is to account for the differences in the health status of populations and their anticipated need for healthcare services. An earlier project demonstrated that the TPC dataset provides viable data that can be used for understanding differences in case mix and resource need by various population sub-groups. This was the first step in a multi-stage process to demonstrate the benefits of integrating case mix into the Malaysian healthcare system. As a result of the first project, an increased understanding of the TPC database was gained, which is providing usable data. However, to make full and effective use of TPC, a resource-use measure based on micro-costing information needed to be developed and validated. This project evaluated the plausibility of recently developed cost measures. This new resource-use measure would enable a clearer understanding of the resource consumption based on the morbidity profile of populations across regions, as well as individual clinics.
    Methods. The primary sources of data for this project came from public, primary care clinics using the TPC system; an alternative electronic system; a small group practice of private primary care clinics using a separate electronic system; and the network of a private medical insurance group with nationwide enrollees. The objective of the project was, first, to take the analyses a step further by incorporating new data input streams from private providers, and then to validate that the newly developed micro-costing information was meaningful. In addition, the project sought to assess the ability to link patient information across different providers, re-analyze the results from Phase 1 using the new resource measure, and then develop a program targeted at improving data quality. Lastly, the aim was to compare differences in service delivery patterns between TPC facilities and providers to assess the efficiency of resource use.
    Results. a) The success of the coding-quality training programs to ensure continually improved data quality in TPC over time was demonstrated. The data quality is sufficiently high to create more sophisticated models. Models to identify "high risk" patients or "high cost" patients are already possible.
    b) The ACG system has been proven to work with Malaysian TPC data, and the micro-costing data works for the TPC population and allows us to better understand differences in resource allocation/need. The 2008 Total Visits model is extremely predictive. However, the cost data for health clinics needs to be improved before the Total Cost can be used to predict costs with the same predictive ability as the Total Visit models.
    c) The analyses of the UPIN's (Unique Patient Identification Number) ability to link data to better capture the services being provided from multiple providers show that existing challenges are surmountable. A better understanding of the differences in service delivery in public vs. private sectors is imperative before a national capitation scheme is possible.
    d) The profiling of providers on a regional basis as the initial step to determining the viability of a morbidity-based capitation formula was successful.
    Conclusions. The initial project successfully demonstrated the ability of Malaysia to apply readily available diagnostic and other clinical information to develop state-of-the-art case-mix measures relevant to medical and fiscal management activities using the TPC database. It also offered an example of how risk adjustment tools can be used to monitor the TPC data collection process. The ACG system has been proven to work with Malaysian data, and it works very well for Total Visits where they can now be used to predict Total Visits with a very high certainty. Where the data quality has improved, the predictive modeling has improved in tandem. The data quality is sufficiently high to create more sophisticated models. Models to identify “high risk” patients or “high cost” patients are already possible.
  4. Muhamad NA, Buang SN, Jaafar S, Jais R, Tan PS, Mustapha N, et al.
    BMC Public Health, 2018 Dec 22;18(1):1402.
    PMID: 30577816 DOI: 10.1186/s12889-018-6316-6
    BACKGROUND: In 2006, 4 years of planning was started by the Ministry of Health, Malaysia (MOH), to implement the HPV (human papillomavirus) vaccination programme. An inter-agency and multi-sectoral collaborations were developed for Malaysia's HPV school-based immunisation programme. It was approved for nationwide school base implementation for 13-year-old girls or first year secondary students in 2010. This paper examines how the various strategies used in the implementation over the last 7 years (2010-2016) that unique to Malaysia were successful in achieving optimal coverage of the target population.

    METHODS: Free vaccination was offered to school girls in secondary school (year seven) in Malaysia, which is usually at the age of 13 in the index year. All recipients of the HPV vaccine were identified through school enrolments obtained from education departments from each district in Malaysia. A total of 242,638 girls aged between 12 to 13 years studying in year seven were approached during the launch of the program in 2010. Approximately 230,000 girls in secondary schools were offered HPV vaccine per year by 646 school health teams throughout the country from 2010 to 2016.

    RESULTS: Parental consent for their daughters to receive HPV vaccination at school was very high at 96-98% per year of the programme. Of those who provided consent, over 99% received the first dose each year and 98-99% completed the course per year. Estimated population coverage for the full vaccine course, considering also those not in school, is estimated at 83 to 91% per year. Rates of adverse events reports following HPV vaccination were low at around 2 per 100,000 and the majority was injection site reactions.

    CONCLUSION: A multisectoral and integrated collaborative structure and process ensured that the Malaysia school-based HPV immunisation programme was successful and sustained through the programme design, planning, implementation and monitoring and evaluation. This is a critical factor contributing to the success and sustainability of the school-based HPV immunisation programme with very high coverage.

  5. Rasiah S, Jaafar S, Yusof S, Ponnudurai G, Chung KPY, Amirthalingam SD
    BMJ Open, 2020 Jan 23;10(1):e028061.
    PMID: 31980505 DOI: 10.1136/bmjopen-2018-028061
    INTRODUCTION: The aim of this scoping review is to systematically search the literature to identify the nature and or level of trust between the patient, the users of health services (eg, clients seeking health promotion and preventive healthcare services) and the individual healthcare providers (doctors, nurses and physiotherapists/ occupational therapists), across public and private healthcare sectors, at all levels of care from primary through secondary to tertiary care. It also aims to identify the factors that influence trust between patients, users of health services (clients) and providers of healthcare at all levels of care from primary care to tertiary care, and across all health sectors (public and private). The study will also identify the tools used to measure trust in the healthcare provider.

    METHODS AND ANALYSIS: The scoping review will be conducted based on the methodology developed by Arksey and O'Malley's scoping review methodology, and Levac et al 's methodological enhancement. An experienced information specialist (HM) searched the following databases MEDLINE, EMBASE, the Cochrane Library, Cumulative Index to Nursing and Allied Health Literature. The search terms were both keywords in the title and/or abstract and subject headings (eg, MeSH, EMTREE) as appropriate. Search results were downloaded, imported and stored into a 'Refworks' folder specifically created for reference management. The preliminary search was conducted between 7 December 2017 and 14 December 2017. Quantitative methods using content analysis will be used to categorise study findings on factors associated with trust between patients, clients and healthcare providers. The collection of studies will be also examined for heterogeneity. Qualitative analysis on peer reviewed articles of qualitative interviews and focus group discussion will be conducted; it allows clear identification of themes arising from the data, facilitating prioritisation, higher order abstraction and theory development. A consultation exercise with stakeholders may be incorporated as a knowledge translation component of the scoping study methodology.

    ETHICS AND DISSEMINATION: Ethical approval will be obtained for the research project from the Institutional Review Board. The International Medical University will use the findings of this scoping review research to improve the understanding of trust in healthcare, in its endeavour to improve health services delivery in its healthcare clinics and hospitals, and in its teaching and learning curriculum. The findings will also help faculty make evidence based decisions to focus resources and research as well as help to advance the science in this area. Dissemination of the results of the scoping review will be made through peer-reviewed publications, research reports and presentations at conferences and seminars.

  6. Tay JH, Jaafar S, Mohd Tahir N
    Bull Environ Contam Toxicol, 2014 Mar;92(3):329-33.
    PMID: 24435136 DOI: 10.1007/s00128-014-1203-z
    A short-term investigation on the chemical composition of rainwater was carried out at five selected sampling stations in Kuantan district, Pahang, Malaysia. Sampling of rainwater was conducted by event basis between September and November 2011. Rainwater samples were collected using polyethylene containers and the parameters measured were cations (sodium, potassium, ammonium, calcium and magnesium) and anions (chlorides, nitrates and sulphates). The average pH value for rainwater samples was 6.0 ± 0.57 in which most of the sampling sites exhibited pH values >5.6. Calcium and sulphate were the most abundant cation and anion, respectively, whilst the concentrations of other major ions varied according to sampling location.
  7. Wahid NB, Latif MT, Suan LS, Dominick D, Sahani M, Jaafar SA, et al.
    Bull Environ Contam Toxicol, 2014 Mar;92(3):317-22.
    PMID: 24435135 DOI: 10.1007/s00128-014-1201-1
    This study aims to determine the composition and sources of particulate matter with an aerodynamic diameter of 10 μm or less (PM10) in a semi-urban area. PM10 samples were collected using a high volume sampler. Heavy metals (Fe, Zn, Pb, Mn, Cu, Cd and Ni) and cations (Na(+), K(+), Ca(2+) and Mg(2+)) were detected using inductively coupled plasma mass spectrometry, while anions (SO4 (2-), NO3 (-), Cl(-) and F(-)) were analysed using Ion Chromatography. Principle component analysis and multiple linear regressions were used to identify the source apportionment of PM10. Results showed the average concentration of PM10 was 29.5 ± 5.1 μg/m(3). The heavy metals found were dominated by Fe, followed by Zn, Pb, Cu, Mn, Cd and Ni. Na(+) was the dominant cation, followed by Ca(2+), K(+) and Mg(2+), whereas SO4 (2-) was the dominant anion, followed by NO3 (-), Cl(-) and F(-). The main sources of PM10 were the Earth's crust/road dust, followed by vehicle emissions, industrial emissions/road activity, and construction/biomass burning.
  8. Makki JS
    PMID: 27042154 DOI: 10.4137/CPath.S32784
    Hematoxylin-eosin-stained slide preparation is one of the most durable techniques in medicine history, which has remained unchanged since implemented. It allows an accurate microscopic diagnosis of the vast majority of tissue samples. In many circumstances, this technique cannot answer all the questions posed at the initial diagnostic level. The pathologist has always been looking for additional ancillary techniques to answer pending questions. In our daily histopathology practice, we referred to those techniques as special stains, but nowadays, they are more than stains and are collectively called ancillary tests. They include a wide range of techniques starting from histochemical stains and ending in one or more advanced techniques, such as immunohistochemistry, immunofluorescence, molecular studies, cytogenetic studies, electron microscopy, flow cytometry, and polymerase chain reaction.
  9. Jaafar S, Mohd Noh K, Suhaili MR, Kiyu A, Ong F, Wong M
    Int J Public Health Res, 2011;1(Special Issue):1-8.
    Public health nursingis a specialized nursing combining both nursing and public health principles with the primary focus of improving the health of the whole community rather than just an individual. Its documented history started in the 1800s and has evolved from home visiting to the varied settings that public health nurses find themselves working in as members of public health teams in clinics, schools, workplaces and government health departments.Public health nursing has been a critical component of the country’s health care system, uplifting of the health status of Malaysians and playing a dominant role in the fight against communicable diseases, and is set to face the challenges of the 21st century with public health nurses practising to the full capacity of their training in a restructured Malaysian health system – 1Care for 1Malaysia. The health sector reform allows for optimisation of scarce health care resources to deliver expansion of quality services based on needs, appropriateness, equity &allocative efficiency. The proposed model will be better than the current system, preserving the strengths of the current system but able to respond to increasing population health needs and expectations. There will be increased autonomy for healthcare providers with incentives in place for greater performance. Some of the implications of reform include allowing public- private integration, a slimmer Ministry of Health with a stronger governance role, enhancing the gatekeeping role of the primary care providers and the autonomous management of the public healthcare providers. In this restructured health system, the roles of the public health nurses are no less important than in the current one. In fact, with the increasing emphasis placed on prevention and primary care as the hub of community care with nurses as part of the primary care team delivering continuous comprehensive person-centered care,public health nurses in the future will be able to meet the challenge of refocusing on the true mission of public health: to look at the health problems of a community as a whole and work with the community in alleviating those problems by applying the nursing process to improve health, not just as providers of personal care only.
  10. Abd Rahman MR, Hassan Z, Hassan MS, Hashim R, Wong LS, Leong WY, et al.
    Int J Food Sci, 2023;2023:1797017.
    PMID: 37350796 DOI: 10.1155/2023/1797017
    Date pits are agricultural waste byproducts and are available in tons yearly. Milk MUFAs are lipids beneficial for health and sorted out for food product development. This work is aimed at researching the effect of supplementing dairy goats with date pit powder (DPP) as a source of fatty acids (FA), an alternative to enhancing the unsaturated FA in milk and analysed via chemometrics in a 3-month supplementation-based study. Saanen-Boer crossed dairy goats were divided into six groups comprising of control, 10 g and 20 g both for Ajwa DPP (high-quality dates) and Mariami DPP (agricultural waste byproduct), and another 30 g for Mariami DPP only. The supplementation exercise was done daily on each dairy goat. The DPP and milk samples were analysed for its FA profile applying GC-FID and followed by chemometric techniques, namely, PCA and PLS. Results indicated that the n-6/n-3 ratio was the highest for the unsupplemented group compared to the DPP-treated goats with lower n-6/n-3 ratios. The M30 group showcased the most promising health-related class of FAs viewed by 3D PCA and PLS model clustering patterns, in particular monounsaturated FA (MUFA) (C18:1n9c or oleic acid). These results suggest that Mariami DPP supplementation at higher doses and time to lactating Saanen-Boer cross goats can be a means to milk FA quantity and quality enhancement and that chemometrics via pattern recognition can be useful statistical tools when dealing with overwhelming data.
  11. Nowrin SA, Jaafar S, Ab Rahman N, Basri R, Alam MK, Shahid F
    Korean J Orthod, 2018 Nov;48(6):395-404.
    PMID: 30450332 DOI: 10.4041/kjod.2018.48.6.395
    Objective: To date, only a few studies have investigated the relationships between genetic polymorphisms and external apical root resorption (EARR). Hence, the aim of this systematic review was to explore the relationship between different gene polymorphisms and their association with EARR.

    Methods: A complete literature search was conducted by two independent reviewers. The PubMed, Science Direct, and Scopus databases were searched. In addition, the bibliographies of all textbooks and relevant articles were searched manually. A meta-analysis was performed using data entered into the electronic databases until February 28, 2017.

    Results: On the basis of the search, we identified 17 and 7 publications for the systematic review and meta-analysis, respectively. Odds ratio (OR) was used to evaluate the association of the interleukin 1B (+3954) polymorphism and the risk of EARR. The overall OR from the studies was used to estimate the risk of EARR. However, no association was found and no publication bias was apparent for the risk of EARR in patients receiving orthodontic treatment.

    Conclusions: More research on the relationship between gene polymorphism and EARR is necessary to determine better specificity of possible interactions.

  12. Buang SN, Diana R, Jaafar S, Muhammad DI, Daud MSM, Jamaluddin J, et al.
    This review aims to profile the disease of thalassemia in Malaysia and to identify the challenges that have kept Malaysia from effectively reducing the birth rate of thalassemia patients. The success of thalassemia prevention programs in some countries have shown that more than 90% of the reduction of cases were achieved by using retrospective screening method (prenatal, premarital, retrospective counselling). However, in Malaysia any impact of the prevention program is yet to be visible, and a reduction in new births of thalassemia patients remains to be seen. The number of patients in the national thalassemia registry (www.mytalasemia.net.my) is increasing over the years from 3588 in 2008 to 4990 in 2010 and to 6624 in 2015. The provision of quality care and disease management imposes a huge economic burden on national health resources, which is why an effective prevention program is urgently needed. For Malaysia to reduce the burden of new thalassemia cases, it is vital to address gaps and limitations of the existing preventive strategies. The screening program has to be integrated into existing primary healthcare settings, promoted to every party including the higher ministry bodies and designed to adapt to the highly diverse local religious and cultural backgrounds. Through continuous support by the government, health care providers and the general public, there is hope that prevention and control of this disease may be achieved in the future.
  13. Bong ASL, Jaafar S
    Malays J Nutr, 1996 Mar;2(1):21-7.
    PMID: 22692098 MyJurnal
    A study was conducted from March to June 1991 to determine the prevalence of obesity among primary school children in the State of Selangor. One School Health Team in each of the 9 Districts of Selangor participated in the collection of data, the whole project being coordinated by the Selangor State Health Department. A total of 28 rural and 24 urban schools were selected for the study, involving a total of 2,688 pupils in Standard 1 and Standard 6. The prevalence of obesity, using >120% of the reference weight-for-height as the criteria, varied considerably in the different districts, with an overall prevalence of 7.8% in the State. The proportion of boys affected (66.7%) was twice that among girls (33.3%). The prevalence of obesity of 9.8% in the urban schools was significantly higher than the 6.1% found for rural schools (p<0.0001). 151 (11.1%) were from Standard 6 and 59 (4.4%) were from Standard 1 (p<0.0001). It was also found that there was a significantly higher prevalence of obesity amongst primary 6 children (p<0.0001). Whilst the problem may not be as serious as that found in developed countries, the findings of this study should serve as an early warning to health authorities of the seriousness of the problem.
  14. Jinap S, Mohd-Mokhtar MS, Farhadian A, Hasnol ND, Jaafar SN, Hajeb P
    Meat Sci, 2013 Jun;94(2):202-7.
    PMID: 23501251 DOI: 10.1016/j.meatsci.2013.01.013
    The study was carried out to determine the effect of cooking method on Heterocyclic Aromatic Amines (HAs) concentration in grilled chicken and beef (satay). Six common HAs were investigated: 2-amino-3-methylimidazo[4,5-f]quinolone (IQ), 2amino 3,4dimethylimidazo [4,5f]quinoline (MeIQ), 2-amino-3,8-dimethylimidazo[4,5-f]quinoxaline (MeIQx), 2-amino-3,4,8 trimethylimidazo[4,5-f]quinoxaline (4,8-DiMeIQx), 2-amino-3,7,8trimethylimidazo [4,5-f]quinoxaline (7,8-DiMeIQx), and 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP). Chicken and beef satay samples were grilled to medium and well done level of doneness. Charcoal grilled (treatment A), microwave pre-treatment prior to grilling (treatment B), and microwave-deep fried (treatment C) were applied to beef and chicken satay samples. The satay samples which were microwaved prior to grilling (B) showed significantly (p<0.05) lower HAs concentration as compared to those charcoal grilled (A). Both medium and well done cooked beef and chicken satay samples that were microwaved and deep fried (C) as an alternative method to grilling were proven to produce significantly lesser HAs as compared to charcoal-grilled (A) and microwaved prior to grilling (B).
  15. Fadzil F, Jaafar S, Ismail R
    Prim Health Care Res Dev, 2020 02 24;21:e4.
    PMID: 32090729 DOI: 10.1017/S146342362000002X
    This paper illustrates the development of Primary Health Care (PHC) public sector in Malaysia, through a series of health reforms in addressing equitable access. Malaysia was a signatory to the Alma Ata Declaration in 1978. The opportunity provided the impetus to expand the Rural Health Services of the 1960s, guided by the principles of PHC which attempts to address the urban-rural divide to improve equity and accessibility. The review was made through several collation of literature searches from published and unpublished research papers, the Ministry of Health annual reports, the 5-year Malaysia Plans, National Statistics Department, on health systems programme and infrastructure developments in Malaysia. The Public Primary Care Health System has evolved progressively through five phases of organisational reforms and physical restructuring. It responded to growing needs over a 40-year period since the Alma Ata Declaration in 1978, keeping equity, accessibility, efficiency and universal health coverage consistently in the backdrop. There were improvements of maternal, infant mortality rates as well as accessibility to health services for the population. The PHC Reforms in Malaysia are the result of structured and strategic investment. However, there will be continuing dilemma between cost-effectiveness and equity. Hence, continuous efforts are required to look at opportunity costs of alternative strategies to provide the best available solution given the available resources and capacities. While recognising that health systems development is complex with several layers and influencing factors, this paper focuses on a small but crucial aspect that occupies much time and energies of front-line managers in the health.
  16. Huckvale C, Car J, Akiyama M, Jaafar S, Khoja T, Bin Khalid A, et al.
    Qual Saf Health Care, 2010 Aug;19 Suppl 2:i25-33.
    PMID: 20693213 DOI: 10.1136/qshc.2009.038497
    BACKGROUND: Research on patient care has identified substantial variations in the quality and safety of healthcare and the considerable risks of iatrogenic harm as significant issues. These failings contribute to the high rates of potentially avoidable morbidity and mortality and to the rising levels of healthcare expenditure seen in many health systems. There have been substantial developments in information technology in recent decades and there is now real potential to apply these technological developments to improve the provision of healthcare universally. Of particular international interest is the use of eHealth applications. There is, however, a large gap between the theoretical and empirically demonstrated benefits of eHealth applications. While these applications typically have the technical capability to help professionals in the delivery of healthcare, inadequate attention to the socio-technical dimensions of their use can result in new avoidable risks to patients.

    RESULTS AND DISCUSSION: Given the current lack of evidence on quality and safety improvements and on the cost-benefits associated with the introduction of eHealth applications, there should be a focus on implementing more mature technologies; it is also important that eHealth applications should be evaluated against a comprehensive and rigorous set of measures, ideally at all stages of their application life cycle.

  17. Ghazali N, Rahman NA, Kannan TP, Jaafar S
    Cleft Palate Craniofac J, 2015 07;52(4):e88-94.
    PMID: 26151095 DOI: 10.1597/14-024
    OBJECTIVE: To determine the prevalence of mutations in transforming growth factor beta 3 (TGFβ3) and Jagged2 genes and their association with nonsyndromic cleft lip with or without cleft palate (CL±P) patients.

    DESIGN: Cross-sectional study on nonsyndromic CL±P and noncleft patients.

    SETTING: Reconstructive clinic and outpatient dental clinic, Hospital Universiti Sains Malaysia.

    PATIENTS: Blood samples of 96 nonsyndromic CL±P and 96 noncleft subjects.

    MAIN OUTCOME MEASURE: Prevalence and association of mutations in TGFβ3 and Jagged2 genes with nonsyndromic CL±P.

    RESULTS: Most of the nonsyndromic CL±P patients (53.1%) had left unilateral CLP. There were slightly more females (56.6%) compared with males. The prevalence of the mutations in the TGFβ3 gene was 17.7% (95% confidence interval [CI]: 9.5, 24.5) and in the Jagged2 gene was 12.5% (95% CI: 5.5, 18.5), which was higher compared with the noncleft group. For the TGFβ3 gene, there was no mutation in the coding region in either of the groups. All variants were single nucleotide polymorphisms located within the intronic flanking region. Two variants were identified (g.15812T>G and g.15966A>G) in both nonsyndromic CL±P and noncleft patients. However, the association was not significant (P > .05). Three variants (g.19779C>T, g.19547G>A, and g.19712C>T) were identified in the Jagged2 gene among nonsyndromic CL±P and noncleft patients. Only g.19712C>T showed a significant association with nonsyndromic CL±P patients (P = .039).

    CONCLUSION: g.19712C>T might play a crucial role in the development of cleft lip and palate. To the best of our knowledge, this is the first report of the mutation found within intron 13 of the Jagged2 gene among nonsyndromic CL±P Malay patients.

    Study site:Reconstructive and outpatient dental clinic, Hospital Universiti Sains Malaysia (HUSM)
  18. Ghazali N, Rahman NA, Kannan TP, Jaafar S
    PMID: 25372553
    OBJECTIVE:   To determine the prevalence of mutations in transforming growth factor beta 3 (TGFβ3) and Jagged2 genes and their association with nonsyndromic cleft lip with or without cleft palate (CL±P) patients.

    DESIGN:   Cross-sectional study on nonsyndromic CL±P and noncleft patients.

    SETTING:   Reconstructive clinic and outpatient dental clinic, Hospital Universiti Sains, Malaysia.

    PATIENTS:   Blood samples of 96 nonsyndromic CL±P and 96 noncleft subjects.

    MAIN OUTCOME MEASURE:   Prevalence and association of mutations in TGFβ3 and Jagged2 genes with nonsyndromic CL±P.

    RESULTS:   Most of the nonsyndromic CL±P patients (53.1%) had left unilateral CLP. There were slightly more females (56.6%) compared with males. The prevalence of the mutations in the TGFβ3 gene was 17.7 (95% confidence interval [CI]: 9.5, 24.5) and in the Jagged2 gene was 12.5% (95% CI: 5.5, 18.5), which was higher compared with the noncleft group. For the TGFβ3 gene, there was no mutation in the coding region in either of the groups. All variants were single nucleotide polymorphisms located within the intronic flanking region. Two variants were identified (g.15812T>G and g.15966A>G) in both nonsyndromic CL±P and noncleft patients. However, the association was not significant (P > .05). Three variants (g.19779C>T, g.19547G>A, and g.19712C>T) were identified in the Jagged2 gene among nonsyndromic CL±P and noncleft patients. Only g.19712C>T showed a significant association with nonsyndromic CL±P patients (P = .039).

    CONCLUSION:   g.19712C>T might play a crucial role in the development of cleft lip and palate. To the best of our knowledge, this is the first report of the mutation found within intron 13 of the Jagged2 gene among nonsyndromic CL±P Malay patients.

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