Displaying publications 1 - 20 of 79 in total

Abstract:
Sort:
  1. Salahshourifar I, Wan Sulaiman WA, Halim AS, Zilfalil BA
    Eur J Med Genet, 2012 Jun;55(6-7):389-93.
    PMID: 22440537 DOI: 10.1016/j.ejmg.2012.02.006
    Non-syndromic oral clefts share the main clinical features of Van der Woude Syndrome (VWS), with the exception of the lower lip pit. Thus, about 15% of VWS cases are indistinguishable from cases with non-syndromic oral clefts. IRF6 mutations are the major cause of VWS; however, variants in this gene show strong association with non-syndromic oral clefts, with a higher increased risk among cases with cleft lip only (CLO). A total of 39 individuals, including 16 patients with CLO and 23 patients with a family history of cleft, were examined for IRF6 mutations in the present study. Seven variants, including five known (c.-75-4 A>; G, c.-73T>; C, c.459G>; T 5, c.820G>; A, and c.1060 + 37C>; T) and two novel (c.-75-23G>; C and c.1380G>; T), were found. Both novel variants were inherited from non-affected parents and we did not find also in the 120 control chromosomes. In silico analysis revealed that both c.1380G>; T and c.-75-23G>; C variants may disrupts a putative exonic splicing enhancer and intronic splicing binding site for SC35, respectively. Taken together, the presence of deleterious IRF6 variants in patients with non-syndromic oral clefts could be most likely an evidence for VWS. While, IRF6 variants could, at best, contribute to clefting as part of a complex inheritance pattern, with both additional genes and environmental factors having a role.
    Matched MeSH terms: Cleft Lip/genetics*
  2. Salahshourifar I, Halim AS, Wan Sulaiman WA, Zilfalil BA
    J Hum Genet, 2011 Nov;56(11):755-8.
    PMID: 21866112 DOI: 10.1038/jhg.2011.95
    Oral clefts are clinically and genetically heterogeneous disorders that are influenced by both genetic and environmental factors. The present family-based association study investigated the role of the MSX1 and TGFB3 genes in the etiology of non-syndromic oral cleft in a Malay population. No transmission distortion was found in the transmission disequilibrium analysis for either MSX1-CA or TGFB3-CA intragenic markers, whereas TGFB3-CA exhibited a trend to excess maternal transmission. In sequencing the MSX1 coding regions in 124 patients with oral cleft, five variants were found, including three known variants (A34G, G110G and P147Q) and two novel variants (M37L and G267A). The P147Q and M37L variants were not observed in 200 control chromosomes, whereas G267A was found in one control sample, indicating a very rare polymorphic variant. Furthermore, the G110G variant displayed a significant association between patients with non-syndromic cleft lip, with or without cleft palate, and normal controls (P=0.001, odds ratio=2.241, 95% confidence interval, 1.357-3.700). Therefore, these genetic variants may contribute, along with other genetic and environmental factors, to this condition.
    Matched MeSH terms: Cleft Lip/genetics*
  3. Salahshourifar I, Halim AS, Sulaiman WA, Ariffin R, Naili Muhamad Nor N, Zilfalil BA
    Cytogenet Genome Res, 2011;134(2):83-7.
    PMID: 21447942 DOI: 10.1159/000325541
    Microdeletion of the Van der Woude syndrome (VWS) critical region is a relatively rare event, and only a few cases have been reported in the medical literature. The extent of the deletion and the genotype-phenotype correlation are 2 crucial issues.
    Matched MeSH terms: Cleft Lip/genetics
  4. Salahshourifar I, Halim AS, Sulaiman WA, Zilfalil BA
    Am J Med Genet A, 2010 Jul;152A(7):1818-21.
    PMID: 20583164 DOI: 10.1002/ajmg.a.33526
    We describe a chromosome 6 uniparental disomy (UPD6) in a boy, discovered during a screening for the genetic cause of cleft lip and palate. In the medical literature, almost all documented cases of UPD6 are paternal in origin, and only four were maternal. We present here a report of complete maternal chromosome 6 uniparental heterodisomy. Haplotype analysis was performed using highly polymorphic short tandem repeat (STR) markers that span both arms of chromosome 6. Analysis of these markers revealed the presence of two maternal alleles but no paternal allele, indicating an instance of maternal uniparental heterodisomy. Chromosome analysis of peripheral blood lymphocytes confirmed a normal male karyotype. Advanced maternal age at the time of the infant's birth and heterodisomy of markers around the centromere favors a meiosis-I error. No specific phenotype has been reported for maternal UPD6. Therefore, the cleft lip and palate in the present case probably occurred due to other risk factors. This report provides further evidence that maternal UPD6 has no specific clinical consequences and adds to the collective knowledge of this rare chromosomal finding.
    Matched MeSH terms: Cleft Lip/genetics*
  5. Salahshourifar I, Halim AS, Sulaiman WA, Zilfalil BA
    J Dent Res, 2011 Mar;90(3):387-91.
    PMID: 21297019 DOI: 10.1177/0022034510391798
    Non-syndromic cleft lip, with or without cleft palate, is a heterogeneous, complex disease with a high incidence in the Asian population. Several association studies have been done on cleft candidate genes, but no reports have been published thus far on the Orofacial Cleft 1 (OFC1) genomic region in an Asian population. This study investigated the association between the OFC1 genomic region and non-syndromic cleft lip with or without cleft palate in 90 Malay father-mother-offspring trios. Results showed a preferential over-transmission of a 101-bp allele of marker D6S470 in the allele- and haplotype-based transmission disequilibrium test (TDT), as well as an excess of maternal transmission. However, no significant p-value was found for a maternal genotype effect in a log-linear model, although single and double doses of the 101-bp allele showed a slightly increased cleft risk (RR = 1.37, 95% CI, 0.527-3.4, p-value = 0.516). Carrying two copies of the 101-bp allele was significantly associated with an increased cleft risk (RR = 2.53, 95% CI, 1.06-6.12, p-value = 0.035). In conclusion, we report evidence of the contribution of the OFC1 genomic region to the etiology of clefts in a Malay population.
    Matched MeSH terms: Cleft Lip/genetics*
  6. Yakob M, Hassan YR, Tse KL, Gu M, Yang Y
    PMID: 28092164 DOI: 10.1597/16-191
    Objective To test the reliability of the modified Huddart-Bodenham (MHB) numerical scoring system and its agreement with the GOSLON Yardstick categorization for assessing the dental arch relationships in unilateral cleft lip and palate (UCLP) cases. Design A retrospective study. Setting Faculty of Dentistry, The University of Hong Kong. Patients Forty-one nonsyndromic UCLP consecutive patients attending the Joint Cleft Lip/Palate Clinic at Faculty of Dentistry in the University of Hong Kong were selected. Interventions Study models at 8 to 10 years old (T1) and 10 to 12 years old (T2) were obtained from each patient. Main Outcome Measures Models were rated with the MHB scoring system and GOSLON Yardstick index. The intra- and interexaminer reliabilities as well as correlation of both scoring systems were evaluated. Furthermore, to investigate the outcome measurements consistency, the MHB scoring system and GOSLON Yardstick were independently used to compare the dental arch relationships from T1 to T2, with the samples split into intervention and nonintervention groups. Results The MHB scoring system presented good intra- and interexaminer agreement, which were comparable to those of the GOSLON Yardstick. The correlation between the MHB scoring system and GOSLON Yardstick scores was good. Both scoring systems showed similar results when assessing the change in the dental arch relationships from T1 to T2. Conclusions The MHB scoring system can be used as an alternative method to the commonly used GOSLON Yardstick for assessing dental deformities in UCLP patients. Both scoring systems showed similar results in assessing the improvement in dental arch relationships.
    Matched MeSH terms: Cleft Lip
  7. Hassan YR, Tse KL, Khambay B, Wong RWK, Gu M, Yang Y
    PMID: 28094563 DOI: 10.1597/15-155
    Objective To evaluate the severity of the dental arch relationships and the treatment outcomes of reverse headgear (RHG) in southern Chinese patients with unilateral cleft lip and palate (UCLP). Design A retrospective study. Setting Faculty of Dentistry, The University of Hong Kong. Patients Thirty-eight UCLP patients with complete records. Among them, 14 were later treated with RHG (RHG group) and 24 were under review (non-RHG group) before definitive orthodontic or in conjunction with orthognathic surgery. Interventions Study models at T1 (aged 9.4 ± 0.4 years old), prebone grafting and before any orthodontic treatment started; T2 (aged 11.3 ± 0.6 years old), after bone grafting, and RHG treatment (RHG group) or under review (non-RHG group); and T3 (aged 15.3 ± 3.2 years old), pretreatment of definitive orthodontic or in conjunction with orthognathic surgery. Main Outcome Measures With satisfactory intra- and interexaminer agreement proven by the kappa value, the dental arch relationships of the study models at T1, T2, and T3 were assessed by a solo calibrated examiner using the GOSLON Yardstick. Results The median GOSLON score for southern Chinese patients with UCLP at T1 was 4.0. Sixty percent of the patients were categorized as "poor" at T1. RHG significantly improved dental arch relationships from T1 to T2, and the improvement was maintained until T3 assessed by the GOSLON Yardstick. Conclusions The dental arch relationships in southern Chinese UCLP patients at 8 to 10 years old are unfavorable. RHG treatment shows positive effects in improving the dental arch relationships in UCLP patients, as assessed by the GOSLON Yardstick.
    Matched MeSH terms: Cleft Lip
  8. Othman SA, Saffai L, Wan Hassan WN
    Clin Oral Investig, 2020 Aug;24(8):2853-2866.
    PMID: 31754872 DOI: 10.1007/s00784-019-03150-1
    OBJECTIVES: To validate the accuracy and reproducibility of linear measurements of three-dimensional (3D) images and to compare the measurements with the direct anthropometry method on cleft lip and palate (CLP) patients.

    MATERIALS AND METHODS: Nineteen linear facial measurements were derived from 16 standardized surface landmarks obtained from 37 cleft patients (20 males, 17 females; mean age 23.84 years, standard deviation ± 6.02). They were taken manually with calipers and were compared with the digitally calculated distance on the 3D images captured using the VECTRA-M5 360° Imaging System with pre-marked landmarks. Another pair of 19 linear measurements were computed on the 3D images 2 weeks apart for intra- and inter-observer agreements. Statistical analyses used were paired t test, the Bland-Altman analysis, and the intra-class correlation coefficient (ICC) index.

    RESULTS: Most of the linear measurements showed no statistically significant differences between the proposed method and direct anthropometry linear measurements. Nevertheless, bias of the 3D imaging system is present in the linear measurements of the nose width and the upper vermillion height. The measurements' mean biases were within 2 mm, but the 95% limit of agreement was more than 2 mm. Intra- and inter-observer measurements generally showed good reproducibility. Four inter-observer measurements, the upper and lower face heights, nose width, and pronasale to left alar base were clinically significant.

    CONCLUSIONS: Measurements obtained from this 3D imaging system are valid and reproducible for evaluating CLP patients.

    CLINICAL RELEVANCE: The system is suitable to be used in a clinical setting for cleft patients. However, training of the operator is strictly advisable.

    Matched MeSH terms: Cleft Lip
  9. Mohd Ibrahim H, Mohamed Yusoff FH, Ahmad K, Van Dort S
    Med J Malaysia, 2015 Dec;70(6):321-5.
    PMID: 26988203 MyJurnal
    INTRODUCTION: Little is known about the treatment outcomes of children with cleft lip and/or palate (CLP) receiving surgical care for primary lip and palate closure in Malaysia.

    OBJECTIVES: This study examined the speech and hearing status of Malay-speaking children with CLP residing in Kuala Lumpur.

    METHODS: Parents whose children were between the age of 5 and 7 years were recruited via the Cleft Lip and Palate Association of Malaysia (CLAPAM) registry. Parents completed a survey and the children completed a speech and hearing assessment at the Audiology and Speech Sciences Clinic, Universiti Kebangsaan Malaysia.

    OUTCOMES: Speech measures include nasality rating, nasalance scores, articulation errors and speech intelligibility rating, while hearing measures include hearing thresholds and tympanometry results for each child.

    RESULTS: Out of 118 registered members who fulfilled the inclusion criteria, 21 agreed to participate in the study. The overall speech and hearing status of children in this sample were poor. Only four (19%) participants had normal speech intelligibility rating and normal hearing bilaterally. In terms of overall cleft management, only four (19%) participants were seen by a cleft team while seven (33%) had never had their hearing tested prior to this study.

    CONCLUSION: Participants in this sample had poor outcomes in speech and hearing and received uncoordinated and fragmented cleft care. This finding calls for further large scale research and collaborative efforts into improving and providing centralised, multidisciplinary care for children born with CLP.

    Matched MeSH terms: Cleft Lip
  10. Sivaloganathan V
    Plast Reconstr Surg, 1972 Feb;49(2):176-9.
    PMID: 5059332
    Matched MeSH terms: Cleft Lip/complications; Cleft Lip/genetics; Cleft Lip/epidemiology*; Cleft Lip/surgery; Cleft Lip/therapy
  11. Alam MK, Alfawzan AA, Haque S, Mok PL, Marya A, Venugopal A, et al.
    Front Pediatr, 2021;9:651951.
    PMID: 34026687 DOI: 10.3389/fped.2021.651951
    To investigate whether the craniofacial sagittal jaw relationship in patients with non-syndromic cleft differed from non-cleft (NC) individuals by artificial intelligence (A.I.)-driven lateral cephalometric (Late. Ceph.) analysis. The study group comprised 123 subjects with different types of clefts including 29 = BCLP (bilateral cleft lip and palate), 41 = UCLP (unilateral cleft lip and palate), 9 = UCLA (unilateral cleft lip and alveolus), 13 = UCL (unilateral cleft lip) and NC = 31. The mean age was 14.77 years. SNA, SNB, ANB angle and Wits appraisal was measured in lateral cephalogram using a new innovative A.I driven Webceph software. Two-way ANOVA and multiple-comparison statistics tests were applied to see the differences between gender and among different types of clefts vs. NC individuals. A significant decrease (p < 0.005) in SNA, ANB, Wits appraisal was observed in different types of clefts vs. NC individuals. SNB (p > 0.005) showed insignificant variables in relation to type of clefts. No significant difference was also found in terms of gender in relation to any type of clefts and NC group. The present study advocates a decrease in sagittal development (SNA, ANB and Wits appraisal) in different types of cleft compared to NC individuals.
    Matched MeSH terms: Cleft Lip
  12. Beaty TH, Fallin MD, Hetmanski JB, McIntosh I, Chong SS, Ingersoll R, et al.
    Genetics, 2005 Sep;171(1):259-67.
    PMID: 15965248
    Analysis of haplotypes based on multiple single-nucleotide polymorphisms (SNP) is becoming common for both candidate gene and fine-mapping studies. Before embarking on studies of haplotypes from genetically distinct populations, however, it is important to consider variation both in linkage disequilibrium (LD) and in haplotype frequencies within and across populations, as both vary. Such diversity will influence the choice of "tagging" SNPs for candidate gene or whole-genome association studies because some markers will not be polymorphic in all samples and some haplotypes will be poorly represented or completely absent. Here we analyze 11 genes, originally chosen as candidate genes for oral clefts, where multiple markers were genotyped on individuals from four populations. Estimated haplotype frequencies, measures of pairwise LD, and genetic diversity were computed for 135 European-Americans, 57 Chinese-Singaporeans, 45 Malay-Singaporeans, and 46 Indian-Singaporeans. Patterns of pairwise LD were compared across these four populations and haplotype frequencies were used to assess genetic variation. Although these populations are fairly similar in allele frequencies and overall patterns of LD, both haplotype frequencies and genetic diversity varied significantly across populations. Such haplotype diversity has implications for designing studies of association involving samples from genetically distinct populations.
    Matched MeSH terms: Cleft Lip/ethnology; Cleft Lip/genetics
  13. Rajion ZA, Al-Khatib AR, Netherway DJ, Townsend GC, Anderson PJ, McLean NR, et al.
    Int J Pediatr Otorhinolaryngol, 2012 Feb;76(2):227-34.
    PMID: 22136741 DOI: 10.1016/j.ijporl.2011.11.008
    The purpose of this study was to use three-dimensional computed tomography data and computer imaging technology to assess the skeletal components of the naso-pharyngeal area in patients with cleft lip and palate and to quantify anatomical variations.
    Matched MeSH terms: Cleft Lip/physiopathology; Cleft Lip/radiography*
  14. Rahman RA, Ahmad A, Rahman ZA, Mokhtar KI, Lah NA, Zilfalil BA, et al.
    Cleft Palate Craniofac J, 2008 Nov;45(6):583-6.
    PMID: 18956930 DOI: 10.1597/07-020.1
    To determine the frequency of the transforming growth factor-alpha (TGFalpha) Taq1 polymorphism in nonsyndromic cleft lip with or without cleft palate (CL+/-P) and cleft palate only (CP) in Kelantan, Malaysia.
    Matched MeSH terms: Cleft Lip/genetics*
  15. ROSLINA R., ZAINUL AHMAD R., ZILFALIL BA, WAN AZMAN WS, AHMAD SUKARI H, SAIDI J.
    MyJurnal
    Orofacial clefts are one of the most common congenital malformations among newborns. The two main types of oral clefts are cleft lip with or without cleft (CLP) and cleft palate alone (CP). Cleft is an abnormal ssure in an anatomical structure that is normally fused. Cleft lip is the congenital failure of the maxillary and medial nasal processes to fuse, forming a ssure in the lip. Cleft palate is the congenital failure of the palate to fuse properly, forming a ssure in the roof of the mouth (Mossey, 2009).clefts are one of the most common congenital malformations among newborns. The two main types of oral clefts are cleft lip with or without cleft (CLP) and cleft palate alone (CP). Cleft is an abnormal ssure in an anatomical structure that is normally fused. Cleft lip is the congenital failure of the maxillary and medial nasal processes to fuse, forming a ssure in the lip. Cleft palate is the congenital failure of the palate to fuse properly, forming a ssure in the roof of the mouth (Mossey, 2009).
    Matched MeSH terms: Cleft Lip
  16. Solhan Yahya, Afidah Abdul Rahim, Affaizza Mohd Shah, Rohana Adnan
    Anticorrosion potential of mangrove tannins on aluminium alloys AA6061 in NaCl solution has been studied using potentiodynamic polarisation method and scanning electron microscopy (SEM). The study was carried out in different pH of corrosive medium in the absence and presence of various concentrations of tannin. The corrosion inhibition behaviour of the mangrove tannin on AA6061 aluminium alloy corrosion was found to be dependant on the pH of NaCl solution. Our results showed that the inhibition efficiency increased with increasing tannins concentration in chloride solution at pH 6. Treatment of aluminium alloy 6061 with all concentrations of mangrove tannins reduced the current density, thus decreased the corrosion rate. Tannins behaved as mixed inhibitors at pH 6 and reduction in current density predominantly affected in cathodic reaction. Meanwhile, at pH 12, addition of tannins shifted the corrosion potential to more cathodic potentials and a passivating effect was observed in anodic potentials. SEM studies have shown that the addition of tannins in chloride solution at pH 12 reduced the surface degradation and the formation of pits.
    Matched MeSH terms: Cleft Lip
  17. Raihan, S., Tg Norina, T.J., Raja Azmi, M.N.
    MyJurnal
    We report a rare case of a newborn baby girl who was delivered at 36 weeks of gestation with birth weight of 2680 grams and has ankyloblepharon filiforme adnatum with cleft lip and palate diagnosed at birth. The baby was managed with simple procedures of eyelid bands separation. We also reviewed the embryology of eyelid and its relation with ankyloblepharon formation and discussed the various syndromes and abnormality which may be associated with this eyelid abnormality. The four types of ankyloblepharon which was described by Rosenman and colleague is presented.
    Matched MeSH terms: Cleft Lip
  18. Othman SA, Ahmad R, Asi SM, Ismail NH, Rahman ZA
    Br J Oral Maxillofac Surg, 2014 Mar;52(3):208-13.
    PMID: 24342372 DOI: 10.1016/j.bjoms.2013.11.008
    The aims of this study were to assess the quantitative values of measurements using proportion indices in the craniofacial region in patients with repaired, non-syndromic, complete unilateral cleft lip and palate (UCLP), and compare them with a control group who did not have clefts using the non-invasive systems of 3-dimensional technology. Three-dimensional measurements of the facial surfaces of 15 Malay patients who had UCLP repaired and 100 Malay control patients aged 18-25 years were analysed. The 3-dimensional images of the respondents' faces were captured using the VECTRA-3D Stereophotogrammetry System. Eleven craniofacial proportions were assessed using a combination of 18 linear measurements obtained from 21 anthropometric soft tissue landmarks. These measurements were used to produce proportion indices to find the differences in the morphological features between the groups, and assessed using the independent sample t test and z scores. There were significant differences between the groups in 7 out of 11 craniofacial proportion indices (p=0.001-0.044). Z scores of 2 indices were disproportionate. They were nasal index (which was severely supernormal) and upper lip index (which was moderately supernormal). Patients with UCLP had higher mean z scores, indicating that patients with UCLP tended to have larger faces than the control group. There were clinically important differences mainly in the nasolabial area, where the nose and the upper lip were wider, larger, or flatter in patients with UCLP.
    Matched MeSH terms: Cleft Lip/pathology*
  19. Yew CC, Alam MK, Rahman SA
    PMID: 27619027 DOI: 10.1016/j.ijporl.2016.07.026
    OBJECTIVES: This study is to evaluate the dental arch relationship and palatal morphology of unilateral cleft lip and palate patients by using EUROCRAN index, and to assess the factors that affect them using multivariate statistical analysis.

    METHOD: A total of one hundred and seven patients from age five to twelve years old with non-syndromic unilateral cleft lip and palate were included in the study. These patients have received cheiloplasty and one stage palatoplasty surgery but yet to receive alveolar bone grafting procedure. Five assessors trained in the use of the EUROCRAN index underwent calibration exercise and ranked the dental arch relationships and palatal morphology of the patients' study models. For intra-rater agreement, the examiners scored the models twice, with two weeks interval in between sessions. Variable factors of the patients were collected and they included gender, site, type and, family history of unilateral cleft lip and palate; absence of lateral incisor on cleft side, cheiloplasty and palatoplasty technique used. Associations between various factors and dental arch relationships were assessed using logistic regression analysis.

    RESULT: Dental arch relationship among unilateral cleft lip and palate in local population had relatively worse scoring than other parts of the world. Crude logistics regression analysis did not demonstrate any significant associations among the various socio-demographic factors, cheiloplasty and palatoplasty techniques used with the dental arch relationship outcome.

    CONCLUSIONS: This study has limitations that might have affected the results, example: having multiple operators performing the surgeries and the inability to access the influence of underlying genetic predisposed cranio-facial variability. These may have substantial influence on the treatment outcome. The factors that can affect unilateral cleft lip and palate treatment outcome is multifactorial in nature and remained controversial in general.

    Matched MeSH terms: Cleft Lip/surgery*
  20. Ebin LE, Zam NM, Othman SA
    Aust Orthod J, 2010 Nov;26(2):165-70.
    PMID: 21175027
    To investigate the craniofacial morphology of Malay children with repaired UCLP and compare the data with non-cleft Malay children.
    Matched MeSH terms: Cleft Lip/pathology*
Filters
Contact Us

Please provide feedback to Administrator (afdal@afpm.org.my)

External Links