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  1. Zain, R.B., Ghazali, N.
    Ann Dent, 2001;8(1):-.
    MyJurnal
    This paper attempts to review epidemiological studies of oral cancer and precancer in Malaysia. The defmitions of prevalence, incidence, risk habits and oral cancer and precancers were discussed to better understand' the different types of studies conducted, which would be important in making comparisons between studies. Currently, epidemiological data on oral cancer in Malaysia are sketchy. The only incidence data for oral cancer in Malaysia was reported by Hirayama in 1966, 35 years ago. He estimated that 3.1 new cases per 100,000 population were diagnosed for the year 1963. A number of histopathological data of oral and maxillofacial biopsies were reported. Oral cancer accounted for one-fifth of all oral biopsies. A national study on oral mucosal lesions in Malaysia carried out in 1993/4 reported that there was a variation seen in the occurrence of oral premalignancy among the ethnic groups. The Indians and the indigenous people of Sabah and Sarawak were identified as high risk groups for oral cancer and precancer. It was also observed that both of the ethnic groups chewed betel quid. In conclusion, the epidemiological studies have provided useful data, which may be used in planning for future oral health programmes and research towards enhancing Malaysia's on-going effort in preventing the occurrence of these diseases.
  2. Teoh JW, Yunus RM, Hassan F, Ghazali N, Abidin ZA
    Rep Pract Oncol Radiother, 2014 Sep;19(5):332-6.
    PMID: 25184058 DOI: 10.1016/j.rpor.2014.02.005
    AIM: The objective of our review is to investigate the association between dermatomyositis patients and nasopharyngeal carcinoma (NPC) together with the clinical presentation of the patients and their management in otorhinolaryngology.
    BACKGROUND: NPC is a malignant disease with good prognosis on early diagnosis. However, the relationship between the dermatomyositis and NPC and its management is not well defined.
    MATERIALS AND METHODS: A 10-year retrospective review of case records of 21 dermatomyositis patients seen in Otorhinolaryngology Department of Hospital Selayang from January 2000 to November 2010.
    RESULTS: These patients ranged from 19 to 74 years old and a total of 8 (38%) out of 21 adults with dermatomyositis were detected to have malignancy. Five out of 8 patients had NPC (62.5%). The mean age of patients with NPC and dermatomyositis was 48 years. NPC is diagnosed in 4 out of 5 patients (80%) in the first year of diagnosis of dermatomyositis. The clinical findings of the examination of nasopharynx ranged from hyperemia to exophytic nasopharyngeal mass. Histologically, it is only related to NPC of WHO types II and III.
    CONCLUSIONS: There is a strong relationship between dermatomyositis and malignancy, especially NPC. Clinicians should have a high index of suspicion for malignancy in all dermatomyositis patients. Rigid nasoendoscopies and biopsies, serum Epstein-Barr viral capsid IgA antibody and imaging studies are helpful in detecting NPC in dermatomyositis patients.
    KEYWORDS: Dermatomyositis; Epstein–Barr viral capsid IgA; Nasopharyngeal carcinoma; Paraneoplastic; WHO histology
  3. Sowtali SN, Harith S, Mohd Shah AS, Ishak NA, Yusoff DM, Draman CR, et al.
    Saudi J Kidney Dis Transpl, 2020 3 5;31(1):118-128.
    PMID: 32129204 DOI: 10.4103/1319-2442.279931
    Knowledge limitation is a major cause of the increasing number of chronic kidney disease (CKD) patients in Malaysia and the world. Nurses are responsible for identifying the patients' needs to come up with appropriate discharge plans which might include educational activities. The objective of this study was to determine the baseline information (socio- demographic background, as well as medical and lifestyle histories), along with educational needs of CKD patients. A total of 116 CKD patients who attended the Nephrology Clinic of Hospital Tengku Ampuan Afzan were recruited. Patients who fulfilled the inclusion criteria were selected between April and May 2017. Data were obtained via semi-guided questionnaires; the patients were given enough time to complete the required items. The CKD educational needs' assessment consisted of seven domains: general information, chronic illness management, complications, self-management, medications, treatment, and financial status. Majority of the patients were men (53.4%), aged 54.65 ± 16.49 years, secondary school-finishers (49.1%), and jobless (48.3%). In terms of medical and life-style histories, most patients were diagnosed with end-stage renal disease (51.7%), hypertension (96.6%), diabetes (51.7%), and anemia (25.9%). The patients were interested to know the complications of kidney disease (57.8%), management of diseases like hypertension (58.6%), complications like edema (55.2%), indications for medication (73.3%), self-management or fluid control (37.9%), hemodialysis (37.1%), and financial status (21.6%). Thus, strengthening patient education strategies in the clinics, hospitals, and community settings should be given due attention by relevant healthcare professionals.
  4. Shahrul Anuar T, M Al-Mekhlafi H, Abdul Ghani MK, Osman E, Mohd Yasin A, Nordin A, et al.
    PLoS One, 2012;7(10):e48165.
    PMID: 23133561 DOI: 10.1371/journal.pone.0048165
    BACKGROUND: Entamoeba histolytica/Entamoeba dispar/Entamoeba moshkovskii infection is still prevalent in rural Malaysia especially among Orang Asli communities. Currently, information on prevalence of this infection among different ethnic groups of Orang Asli is unavailable in Malaysia. To contribute to a better comprehension of the epidemiology of this infection, a cross-sectional study aimed at providing the first documented data on the prevalence and risk factors associated with E. histolytica/E. dispar/E. moshkovskii infection was carried out among three Orang Asli ethnic groups (Proto-Malay, Negrito, and Senoi) in selected villages in Negeri Sembilan, Perak, and Pahang states, Malaysia.

    METHODS/FINDINGS: Faecal samples were examined by formalin-ether sedimentation and trichrome staining techniques. Of 500 individuals, 8.7% (13/150) of Proto-Malay, 29.5% (41/139) of Negrito, and 18.5% (39/211) of Senoi were positive for E. histolytica/E. dispar/E. moshkovskii, respectively. The prevalence of this infection showed an age-dependency relationship, with higher rates observed among those aged less than 15 years in all ethnic groups studied. Multivariate analysis confirmed that not washing hands after playing with soils or gardening and presence of other family members infected with E. histolytica/E. dispar/E. moshkovskii were significant risk factors of infection among all ethnic groups. However, eating with hands, the consumption of raw vegetables, and close contact with domestic animals were identified as significant risk factors in Senoi.

    CONCLUSIONS: Essentially, the findings highlighted that E. histolytica/E. dispar/E. moshkovskii parasites are still prevalent in Malaysia. Further studies using molecular approaches to distinguish the morphologically identical species of pathogenic, E. histolytica from the non-pathogenic, E. dispar and E. moshkovskii are needed. The establishment of such data will be beneficial for the public health authorities in the planning and implementation of specific prevention and control strategies of this infection in different Orang Asli ethnic groups in Malaysia.

  5. Othman NI, Ismail HU, Mohammad N, Ghazali N, Alauddin MS
    Eur J Dent, 2021 May;15(2):281-289.
    PMID: 33368068 DOI: 10.1055/s-0040-1721546
    OBJECTIVES:  The aim of this study was to investigate the current knowledge and attitude of deep caries removal method among dental students in Malaysia.

    MATERIALS AND METHODS:  A total of 303 students (n = 303) responded to the online questionnaire. The first part of questionnaire was to evaluate the demographic data of the respondents and focused on the technique and management approach used for deep caries lesion. The second part investigated the preferred treatment used for deep caries based on the designated clinical case, while the third part assessed the factors that affected the decision on deep caries management.

    STATISTICAL ANALYSIS:  Independent t-test was used to compare difference between the two groups.

    RESULTS:  Seventy four percent of the students have the knowledge of the different methods of caries removal, while 25.8% were only familiar with complete caries removal. The preferred method for deep caries removal in permanent teeth was partial caries removal (53%). For primary dentition, 45.6% of the students prefer to perform pulpotomy as compared with other techniques. There was no significant difference in caries removal method for permanent teeth between undergraduate year of study (p > 0.05), which was partial caries removal at 52.7 and 53.5%, respectively. For primary dentition, the preferred caries removal method was pulpotomy for year 4 (39.8%) and year 5 (52%) students. The popular material to restore deep caries was resin composite (42%) followed by glass ionomer cement (23.3%).

    CONCLUSIONS:  This study showed that partial caries removal was the preferred method despite partial understanding on the identification of the clinical indicators of the technique.

  6. Osman E, Amin NA, Noon TPM, Lahat SNH, Rosli MS, Sham SF, et al.
    Am J Trop Med Hyg, 2022 Jul 25;107(3):636-9.
    PMID: 35895335 DOI: 10.4269/ajtmh.22-0076
    Strongyloides infection may develop into fatal hyperinfection and dissemination syndrome in immunocompromised hosts. Despite suboptimal specificity issues, the detection of IgG antibodies by ELISA has been central in the serodiagnosis of Strongyloides infection. Recently, an IgG4-based lateral-flow test (SsRapid) using recombinant NIE (rNIE) protein with good diagnostic performance has been reported. This study assessed the result concordance between a commercial IgG-ELISA and the SsRapid. Additionally, we determined the Strongyloides seroprevalence and its association with clinical manifestations. Immunocompromised patients (N = 200) were from Hospital Canselor Tuanku Muhriz, Kuala Lumpur, Malaysia, and were diagnosed with HIV/AIDS, hematological malignancy, and solid organ cancers. Their plasma samples were tested using a commercial IgG-ELISA and SsRapid. A fair concordance (κ = 0.27-0.33; P < 0.05) among the tests was demonstrated. The SsRapid exhibited a significantly higher (P < 0.05) seroprevalence (10.5% [21/200]) compared with IgG-ELISA (7.5% [15/200]). After adsorption with rNIE, all SsRapid-positive samples tested negative with the rapid test, thus showing binding specificity. There was no significant association with clinical manifestations. This study revealed that SsRapid is a useful diagnostic tool for Strongyloides infection, and there is a notable seroprevalence among the immunocompromised patients.
  7. Naeemmudeen NM, Mohd Ghazali NAN, Bahari H, Ibrahim R, Samsudin AD, Jasni AS
    Med J Malaysia, 2021 09;76(5):698-705.
    PMID: 34508377
    INTRODUCTION: Antibiotic resistance is a burgeoning problem worldwide. The trend of bacterial resistance has increased over the past decade in which more common bacteria are becoming resistant to almost all the antibiotics currently in use, posing a threat to humans and even livestock.

    METHODS: The databases used to search for the relevant articles for this review include PubMed, Science Direct, and Scopus. The following keywords were used in the search: Antimicrobial resistance, Malaysian action plan, antibioticresistant bacteria, and Malaysian National Surveillance on Antimicrobial Resistance (NSAR). The relevant articles published in English were considered.

    RESULTS: The antibiotic-resistant bacteria highlighted in this review showed an increase in resistance patterns to the majority of the antibiotics tested. The Malaysian government has come up with an action plan to create public awareness and to educate them regarding the health implications of antibiotic resistance.

    CONCLUSION: Antimicrobial resistance in Malaysia continues to escalate and is attributed to the overuse and misuse of antibiotics in various fields. As this crisis impacts the health of both humans and animals, therefore a joined continuous effort from all sectors is warranted to reduce the spread and minimize its development.

  8. Md Nadzri MN, Md Zamri ASS, Singh S, Sumarni MG, Lai CH, Tan CV, et al.
    Front Public Health, 2024;12:1289622.
    PMID: 38544725 DOI: 10.3389/fpubh.2024.1289622
    INTRODUCTION: Since the COVID-19 pandemic began, it has spread rapidly across the world and has resulted in recurrent outbreaks. This study aims to describe the COVID-19 epidemiology in terms of COVID-19 cases, deaths, ICU admissions, ventilator requirements, testing, incidence rate, death rate, case fatality rate (CFR) and test positivity rate for each outbreak from the beginning of the pandemic in 2020 till endemicity of COVID-19 in 2022 in Malaysia.

    METHODS: Data was sourced from the GitHub repository and the Ministry of Health's official COVID-19 website. The study period was from the beginning of the outbreak in Malaysia, which began during Epidemiological Week (Ep Wk) 4 in 2020, to the last Ep Wk 18 in 2022. Data were aggregated by Ep Wk and analyzed in terms of COVID-19 cases, deaths, ICU admissions, ventilator requirements, testing, incidence rate, death rate, case fatality rate (CFR) and test positivity rate by years (2020 and 2022) and for each outbreak of COVID-19.

    RESULTS: A total of 4,456,736 cases, 35,579 deaths and 58,906,954 COVID-19 tests were reported for the period from 2020 to 2022. The COVID-19 incidence rate, death rate, CFR and test positivity rate were reported at 1.085 and 0.009 per 1,000 populations, 0.80 and 7.57%, respectively, for the period from 2020 to 2022. Higher cases, deaths, testing, incidence/death rate, CFR and test positivity rates were reported in 2021 and during the Delta outbreak. This is evident by the highest number of COVID-19 cases, ICU admissions, ventilatory requirements and deaths observed during the Delta outbreak.

    CONCLUSION: The Delta outbreak was the most severe compared to other outbreaks in Malaysia's study period. In addition, this study provides evidence that outbreaks of COVID-19, which are caused by highly virulent and transmissible variants, tend to be more severe and devastating if these outbreaks are not controlled early on. Therefore, close monitoring of key epidemiological indicators, as reported in this study, is essential in the control and management of future COVID-19 outbreaks in Malaysia.

  9. Lim MC, Singh S, Lai CH, Gill BS, Kamarudin MK, Md Zamri ASS, et al.
    Epidemiol Health, 2023;45:e2023093.
    PMID: 37905314 DOI: 10.4178/epih.e2023093
    OBJECTIVES: This study aimed to develop susceptible-exposed-infectious-recovered-vaccinated (SEIRV) models to examine the effects of vaccination on coronavirus disease 2019 (COVID-19) case trends in Malaysia during Phase 3 of the National COVID-19 Immunization Program amidst the Delta outbreak.

    METHODS: SEIRV models were developed and validated using COVID-19 case and vaccination data from the Ministry of Health, Malaysia, from June 21, 2021 to July 21, 2021 to generate forecasts of COVID-19 cases from July 22, 2021 to December 31, 2021. Three scenarios were examined to measure the effects of vaccination on COVID-19 case trends. Scenarios 1 and 2 represented the trends taking into account the earliest and latest possible times of achieving full vaccination for 80% of the adult population by October 31, 2021 and December 31, 2021, respectively. Scenario 3 described a scenario without vaccination for comparison.

    RESULTS: In scenario 1, forecasted cases peaked on August 28, 2021, which was close to the peak of observed cases on August 26, 2021. The observed peak was 20.27% higher than in scenario 1 and 10.37% lower than in scenario 2. The cumulative observed cases from July 22, 2021 to December 31, 2021 were 13.29% higher than in scenario 1 and 55.19% lower than in scenario 2. The daily COVID-19 case trends closely mirrored the forecast of COVID-19 cases in scenario 1 (best-case scenario).

    CONCLUSIONS: Our study demonstrated that COVID-19 vaccination reduced COVID-19 case trends during the Delta outbreak. The compartmental models developed assisted in the management and control of the COVID-19 pandemic in Malaysia.

  10. Kamangar S, Badruddin IA, Ameer Ahamad N, Soudagar MEM, Govindaraju K, Nik-Ghazali N, et al.
    Biomed Mater Eng, 2017;28(3):257-266.
    PMID: 28527189 DOI: 10.3233/BME-171672
    The current study investigates the effect of multi stenosis on the hemodynamic parameters such as wall pressure, velocity and wall shear stress in the realistic left coronary artery. Patients CT scan image data of normal and diseased left coronary artery was chosen for the reconstruction of 3D coronary artery models. The diseased 3D model of left coronary artery shows a narrowing of more than 70% and 80% of area stenosis (AS) at the left main stem (LMS) and left circumflex (LCX) respectively. The results show that the decrease in pressure was found downstream to the stenosis as compared to the coronary artery without stenosis. The maximum pressure drop was noted across the 80% AS at the left circumflex branch. The recirculation zone was also observed immediate to the stenosis and highest wall shear stress was found across the 80% area stenosis. Our analysis provides an insight into the distribution of wall shear stress and pressure drop, thus improving our understanding on the hemodynamics in realistic coronary artery.
  11. Kamangar S, Badruddin IA, Govindaraju K, Nik-Ghazali N, Badarudin A, Viswanathan GN, et al.
    Med Biol Eng Comput, 2017 Aug;55(8):1451-1461.
    PMID: 28004229 DOI: 10.1007/s11517-016-1604-8
    The purpose of this study is to investigate the effect of various degrees of percentage stenosis on hemodynamic parameters during the hyperemic flow condition. 3D patient-specific coronary artery models were generated based on the CT scan data using MIMICS-18. Numerical simulation was performed for normal and stenosed coronary artery models of 70, 80 and 90% AS (area stenosis). Pressure, velocity, wall shear stress and fractional flow reserve (FFR) were measured and compared with the normal coronary artery model during the cardiac cycle. The results show that, as the percentage AS increase, the pressure drop increases as compared with the normal coronary artery model. Considerable elevation of velocity was observed as the percentage AS increases. The results also demonstrate a recirculation zone immediate after the stenosis which could lead to further progression of stenosis in the flow-disturbed area. Highest wall shear stress was observed for 90% AS as compared to other models that could result in the rupture of coronary artery. The FFR of 90% AS is found to be considerably low.
  12. Kamangar S, Badruddin IA, Badarudin A, Nik-Ghazali N, Govindaraju K, Salman Ahmed NJ, et al.
    Comput Methods Biomech Biomed Engin, 2017 Mar;20(4):365-372.
    PMID: 27612619 DOI: 10.1080/10255842.2016.1233402
    The current study investigates the hyperemic flow effects on heamodynamics parameters such as velocity, wall shear stress in 3D coronary artery models with and without stenosis. The hyperemic flow is used to evaluate the functional significance of stenosis in the current era. Patients CT scan data of having healthy and coronary artery disease was chosen for the reconstruction of 3D coronary artery models. The diseased 3D models of coronary artery shows a narrowing of >50% lumen area. Computational fluid dynamics was performed to simulate the hyperemic flow condition. The results showed that the recirculation zone was observed immediate to the stenosis and highest wall shear stress was observed across the stenosis. The decrease in pressure was found downstream to the stenosis as compared to the coronary artery without stenosis. Our analysis provides an insight into the distribution of wall shear stress and pressure drop, thus improving our understanding of hyperemic flow effect under both conditions.
  13. Jafri NF, Mohd Salleh K, Ahmad Ghazali N, Nyak Mazlan NS, Ab Halim NH, Zakaria S
    Int J Biol Macromol, 2023 Sep 18;253(Pt 4):126971.
    PMID: 37729993 DOI: 10.1016/j.ijbiomac.2023.126971
    To date, the utilization of carboxymethyl cellulose (CMC) fibers are only restricted to weak mechanical application such as wound dressing. Physically, CMC has a weak mechanical strength due to the high hydrophilicity trait. However, this flaw was saved by the extensive number of reactive functional groups, allowing this macromolecule to form linkages with chitosan to ensure its versatility. This work successfully fabricated CMC-chitosan fiber via dissolution, crosslinking, dry-jet wet-spinning extrusion, and coagulation processes. Chitosan was constituted with CMC fiber in two approaches, coating, and inclusion at various concentrations. Morphologically, chitosan incorporation has triggered agglomerations and roughness toward CMC fibers (CMCF). Chemically, the interaction between CMC and chitosan was proved through FTIR analysis at peaks 1245 cm-1 (ECH covalent crosslinking), while 3340 cm-1 and 1586 cm-1 were due to ionic and hydrogen bonding. The result from analysis showed that at higher chitosan concentrations, the chitosan-included CMC fiber (CMCF-I) and chitosan-coated CMC fiber (CMFC) were mechanically enhanced (up to 86.77 and 82.72 MPa), thermally more stable (33 % residual mass), and less hydrophilic compared to the plain CMCF. The properties of CMC-chitosan fibers have opened up vast possible applications, especially as a reinforcement in a watery medium such as a hydrogel.
  14. Ghazali, N., Zain, R.B., Samsudin, A.R., Abdul Rahman, R., Othman, N.H.
    Malaysian Dental Journal, 2007;28(2):83-91.
    MyJurnal
    A review of incident oral and maxillofacial biopsies in Kelantan from January 1994 to December 1998 was carried out to evaluate the scope of pathological lesions managed by the two main oral and maxillofacial units in this state. A total of 357 biopsy reports from incident cases of pathological lesions were reviewed. The biopsies were mainly from intra-oral sites (n=326, 91.3%). Females had more frequent oro-facial lesions compared with males (male:female ratio is 0.8:1). The Bumiputera ethnic group had the most number of biopsies (n=321; 90%). The three most commonly observed histopathological groups were the connective tissue hyperplasia (n=90; 25.2%), epithelial dysplasia and neoplasia (n=68; 19%) and salivary gland cysts/mucocele (n=56; 15.7%). The top five most frequent diagnoses were mucocele (n=56; 15.7%), squamous cell carcinoma (n=45; 12.6%), epulides (n=31; 8.7%), pyogenic granuloma (n=25; 7.0%) and fibroepithelial polyp (n=19; 5.3%). Oro-facial malignancies made up almost one-fifth of all diagnoses and squamous cell carcinoma was the most common sub-type. Lymphomas in the oro-facial region (n=8; 11.4%) were more common than basal cell carcinoma (n=7; 10%) and salivary gland malignancies (n=6; 8.5%). Epithelial jaw cysts consisted of 8.7% (n=31) of all diagnoses, where inflammatory types were more common than the developmental types. Odontogenic tumours consisted of 5.6% (n=20) of all diagnoses and ameloblastoma was the predominant type.
  15. Ghazali, N., Ismail, S.M., Abdul Rahman, Z.A.
    Ann Dent, 2001;8(1):-.
    MyJurnal
    Mental nerve neuropathy is an important presenting complaint that may be encountered by dental surgeons in their daily practise. There are various pathological processes that could bring about this symptom, ranging. from simple dental cause to vague, life threatening diseases. We present three cases of mental paraesthesia of different aetiologies. A literature review on mental nerve neuropathy related to malignancies and infection is discussed. The importance of a thorough chair side history taking, clinical examination and relevant investigations are emphasised in a suggested clinical approach to obtaining the diagnosis of a numb chin.
  16. Ghazali N, Bakri MM, Zain RB
    J Oral Pathol Med, 2003 Aug;32(7):383-92.
    PMID: 12846784
    Some oral verrucal lesions may constitute parts of the clinicopathological spectrum of proliferative verrucous leukoplakia (PVL). Because of its idiopathic yet sinister nature, it is possible that PVL may exist in other populations. The aim of this study was to review the clinicopathological features of persistent, multifocal, oral verrucal lesions in Malaysian population.
  17. Ghazali N, Abd Rahman N, Ahmad A, Sulong S, Kannan TP
    Front Physiol, 2021;12:637306.
    PMID: 33732167 DOI: 10.3389/fphys.2021.637306
    Nonsyndromic cleft lip and or without cleft palate (NSCL/P) with the hypodontia is a common developmental abnormality in humans and animals. This study identified the genetic aberration involved in both NSCL/P and hypodontia pathogenesis. A cross-sectional study using genome-wide study copy number variation-targeted CytoScan 750K array carried out on salivary samples from 61 NSCL/P and 20 noncleft with and without hypodontia Malay subjects aged 7-13 years old. Copy number variations (CNVs) of SKI and fragile histidine triad (FHIT) were identified in NSCL/P and noncleft children using quantitative polymerase chain reaction (qPCR) as a validation analysis. Copy number calculated (CNC) for each gene determined with Applied Biosystems CopyCaller Software v2.0. The six significant CNVs included gains (12q14.3, 15q26.3, 1p36.32, and 1p36.33) and losses (3p14.2 and 4q13.2) in NSCL/P with hypodontia patients compared with the NSCL/P only. The genes located in these regions encoded LEMD3, IGF1R, TP73, SKI, FHIT, and UGT2β15. There were a significant gain and loss of both SKI and FHIT copy number in NSCL/P with hypodontia compared with the noncleft group (p < 0.05). The results supported that CNVs significantly furnish to the development of NSCL/P with hypodontia.
  18. 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)
  19. Ghazali N, Rahman NA, Kannan TP, Ahmad A, Sulong S
    BMC Oral Health, 2023 Nov 29;23(1):945.
    PMID: 38031027 DOI: 10.1186/s12903-023-03464-3
    BACKGROUND: Nonsyndromic cleft lip and/or without cleft palate (NSCL/P) with or without hypodontia is a common developmental aberration in humans and animals. This study aimed to identify the loss of heterozygosity (LOH) involved in hypodontia and NSCL/P pathogenesis.

    METHODS: This is a cross-sectional study that conducted genome-wide copy number analysis using CytoScan 750K array on salivary samples from Malay subjects with NSCL/P with or without hypodontia aged 7-13 years. To confirm the significant results, simple logistic regression was employed to conduct statistical data analysis using SPSS software.

    RESULTS: The results indicated the most common recurrent copy neutral LOH (cnLOH) observed at 1p33-1p32.3, 1q32.2-1q42.13 and 6p12.1-6p11.1 loci in 8 (13%), 4 (7%), and 3 (5%) of the NSCL/P subjects, respectively. The cnLOHs at 1p33-1p32.3 (D1S197), 1q32.2-1q42.13 (D1S160), and 6p12.1-6p11.1 (D1S1661) were identified observed in NSCL/P and noncleft children using microsatellite analysis markers as a validation analysis. The regions affected by the cnLOHs at 1p33-1p32.3, 1q32.2-1q42.13, and 6p12.1-6p11.1 loci contained selected genes, namely FAF1, WNT3A and BMP5, respectively. There was a significant association between the D1S197 (1p33-32.3) markers containing the FAF1 gene among NSCL/P subjects with or without hypodontia compared with the noncleft subjects (p-value = 0.023).

    CONCLUSION: The results supported the finding that the genetic aberration on 1p33-32.3 significantly contributed to the development of NSCL/P with or without hypodontia. These results have an exciting prospect in the promising field of individualized preventive oral health care.

  20. 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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