TGFA/TAQ I Polymorphism in Nonsyndromic Cleft Lip and Palate Patients from Rio Grande Do Sul, Brazil

2008 ◽  
Vol 45 (5) ◽  
pp. 539-544 ◽  
Author(s):  
Ângela Ehlers Bertoja ◽  
Clarice Sampaio Alho ◽  
Everaldo De França ◽  
Beatriz Menegotto ◽  
Wanyce Miriam Robinson

Objective: To test the TGFA/Taq I polymorphism in the development of nonsyndromic cleft lip and palate. Design And Setting: The research was based on a case-control study, including nonsyndromic cleft lip and palate patients (140 individuals) and a control sample of unaffected individuals (142) to ascertain the absence or presence of genic mutation at the TGFA locus. Interventions: The DNA of carriers of nonsyndromic cleft lip with or without cleft palate was obtained by buccal swab, and the DNA of the control group was extracted from peripheral blood leucocytes. TGFA/Taq I polymorphism was determined genetically by polymerase chain reaction using specific primers and fragment digestion with Taq I restriction enzyme. Results: No significant association was detected when patients and controls were compared with the genotype for TGFA/Taq I polymorphism. Conclusion: Mutations in TGFA gene have no association with nonsyndromic cleft lip and palate in the sample from Rio Grande do Sul. Therefore, based on this study, it is not possible to determine the role played by TGFA in the expression of cleft lip and palate.

2007 ◽  
Vol 77 (6) ◽  
pp. 1062-1066 ◽  
Author(s):  
Miri Shalish ◽  
Leslie A. Will ◽  
Stephen Shustermann

Abstract Objective: To determine whether distoangular malposition of the unerupted mandibular second premolar (MnP2) is more frequent in children with unilateral clefts of the lip and palate. Materials and Methods: This retrospective study examined panoramic radiographs from 45 patients with unilateral clefts of the lip and/or palate who had no previous orthodontics. A control sample consisted of age- and sex-matched patients. The distal angle formed between the long axis of MnP2 and the tangent to the inferior border was measured. The mean, standard deviation, and range were calculated for the angles measured in the cleft and the control groups. The significance of the differences between the means was evaluated by the paired t-test. The angles of the cleft and noncleft sides were also measured and compared. Results: The mean inclination of the MnP2 on the cleft side was 73.6°, compared with 84.6° in the control group. This difference was highly significant statistically (P < .0001). The difference in angles from the cleft and noncleft sides was 0.7°, not statistically significant. A significant association was found between clefting and distoangular malposition of the developing MnP2, suggesting a shared genetic etiology. This association is independent of the clefting side, ruling out possible local mechanical effects. Conclusion: Clinicians should be aware of the potential for anomalous development of MnP2 in children with clefts.


1997 ◽  
Vol 34 (1) ◽  
pp. 21-26 ◽  
Author(s):  
Kiki L.W.M. Heidbuchel ◽  
Anne Marie Kuijpers-Jagtman

The aim of this study was to describe maxillary and mandibular dental-arch form and occlusion in bilateral cleft of the lip and palate (BCLP) from 3 to 17 years of age and to compare their characteristics with a normative sample. A sample of 22 patients with BCLP was investigated, with a noncleft control sample used for comparison. Dental-arch dimensions were studied on dental casts. A comparison between both groups was made at fixed time intervals. From 9 years of age, the cleft sample showed a significantly smaller maxillary depth. Maxillary dental-arch widths were also significantly smaller than in the control group over the whole age period. Mandibular dental-arch measurements were very similar In both groups, although smaller first-molar widths were noted in the BCLP group beginning at 12 years of age. A tendency for end-to-end occlusion was found, which became more clear with age and was most markedly in the canine region.


2013 ◽  
Vol 37 (4) ◽  
pp. 381-384 ◽  
Author(s):  
PN Tannure ◽  
FMM Soares ◽  
EC Küchler ◽  
LG Motta ◽  
MC Costa ◽  
...  

Objective: The aim of this study was to assess the quality of life (QoL) of children previously treated for cleft lip and/or palate (CL/P) and compare with non-cleft children. Method: A case-control study with 70 children between 5 and 12 years old was carried out. The case group consisted of 35 individuals previously treated for non-syndromic CL/P and presently receiving assessment at a rehabilitation hospital in Brazil. The children had received primary surgical treatment for CL/P reconstruction during early childhood. The control group consisted of 35 healthy children selected to ensure close similarity to the cleft group in age, gender and socioeconomic status. QoL was measured using the AUQEI questionnaire. Results: Cleft lip and palate had no significant influence on the QoL in children (p=0.44). A higher percentage of the cleft lip and palate group of children reported a lower QoL than the cleft lip or cleft palate groups. Gender had no significant difference on the quality of life in CL/P children (p=0.2) and in control group (p=1.0). Conclusion: The QoL in children with CL/P was found to be similar to the non-cleft group. Our results confirm that clefts repaired during earlier childhood associated with a health care program, including psychological support, is beneficial for CL/P children.


2019 ◽  
Vol 43 (2) ◽  
pp. 126-130 ◽  
Author(s):  
Alberto De Stefani ◽  
Giovanni Bruno ◽  
Paolo Balasso ◽  
Sergio Mazzoleni ◽  
Ugo Baciliero ◽  
...  

Objectives: The aim of this study is to evaluate the prevalence and distribution of hypodontia, inside and outside the cleft area, in an Italian population with a non-syndromic unilateral (UCLP) and bilateral (BCLP) cleft lip and palate on panoramic radiographs and comparing it with a control sample. Study design: Case group was ethnically uniform and consisted in 233 patients. The control group was composed of 1000 subjects. Patients included were between seven and fifteen years old. Descriptive analysis, using absolute and relative frequencies, was performed to check out the prevalence of gender distribution, hypodontia and cleft formation. Statistical analysis was conducted with Chi-squared test, Yate's correction and the Fisher's exact test. The power was set higher than 0.8 for each test. Results: 160 cleft patients (68.68%) presented at least one missing tooth, while 88 patients in the control groups presented agenesis (8.80%). A statistically significant difference was found in case and control groups for upper lateral incisors (37.34% and 48.07% in the case group against 2.50% and 2.60% in the control group), upper and lower second premolars (8.58%, 6.44%, 5.58% and 6.01% in the cleft group and 0.60%, 0.60%, 2.50% and 2.70% in the control group). Conclusion: Higher prevalence of dental agenesis in the maxillary dental arch is explained by the cleft defect. Higher prevalence of mandibular second premolars agenesis cannot be explained by the anatomical defect and suggests a multifactorial aetiology, including environmental and genetic factors, of the cleft condition.


2012 ◽  
Vol 2012 ◽  
pp. 1-8 ◽  
Author(s):  
Kai Wermker ◽  
Susanne Jung ◽  
Ulrich Joos ◽  
Johannes Kleinheinz

Introduction. The aim of this paper was to evaluate cephalometrically the nasopharyngeal development of patients with complete unilateral cleft lip and palate. Influencing factors were evaluated and cleft to noncleft subjects were compared to each other.Material and Methods. The lateral cephalograms of 66 patients with complete cleft lip and palate were measured and compared retrospectively to the cephalograms of 123 healthy probands. Measurements were derived from a standardized analysis of 56 landmarks.Results. We observed significant differences between cleft and control group: the cleft patients showed amaxillary retroposition and a reduced maxillary length; the inclination of the maxilla was significantly more posterior and cranial; the anterior nasopharyngeal height was reduced; the nasopharyngeal growth followed a vertical tendency with reduced sagittal dimensions concerning hard and soft tissue. The velum length was reduced. In the cleft group, an accumulation of mandibular retrognathia and an anterior position of the hyoid were observed. Skeletal configuration and type of growth were predominantly vertical.Conclusions. Our data provides a fundamental radiological analysis of the nasopharyngeal development in cleft patients. It confirms the lateral cephalogram as a basic diagnostic device in the analysis of nasopharyngeal and skeletal growth in cleft patients.


1993 ◽  
Vol 30 (2) ◽  
pp. 227-230 ◽  
Author(s):  
Andrew Mccance ◽  
David Roberts-Harry ◽  
Martyn Sherriff ◽  
Michael Mars ◽  
William J.B. Houston

The study models of a group of adult Sri Lankan patients with clefts of the secondary palate were investigated. Tooth-size and arch-dimension comparisons were made with a comparable control group. Significant differences were found between the cleft and control groups in tooth sizes, chord lengths, and arch widths. The cleft group dimensions were generally smaller than those of the control group. Overjets were larger in the cleft group.


2021 ◽  
pp. 105566562098769
Author(s):  
Mecheala Abbas Ali ◽  
Alwaleed Fadul Nasir ◽  
Shaza K. Abass

Objective: This study compared the oral health-related quality of life (OHRQoL) among children with a cleft lip with or without a cleft palate (CL±P) and a group of their peers. The reliability of the Arabic version of the Child Oral Health Impact Profile Questionnaire (COHIP) was also assessed. Design: A cross-sectional study. Settings: Cleft clinic in a private dental college in Omdurman City, Sudan. Patients: In all, 75 children (mean age 11.3 ± 2.5 years) with a history of CL±P and a group of 150 school children without CL±P (mean age 11.4 ± 2.6 years). Main Outcome Measures: Overall and subscale scores on the Arabic version of the COHIP. Results: Test–retest reliability of COHIP in Arabic was high with an interclass correlation coefficient >0.8. Cronbach α value internal consistency was 0.8 for the total scale and between 0.7 and 0.8 for the subscales. The COHIP score was 89.41 ± 19.97 in children with CL±P and 122.82 ± 9.45 for the control group. Children with CL±P had significantly lower scores on the overall and all subscales when compared to children without CL±P ( P ≤ .001). Among the children with CL±P, there were no statistically significant differences on the COHIP based on age and/or gender ( P ≥ .05). Conclusions: Children with CL±P had a relatively high OHRQoL, which was lower than that of their peers without CL±P in both the overall scale and all subscales. Gender and age differences had no significant impact on the OHRQoL. The COHIP Arabic version showed appropriate reliability.


2020 ◽  
pp. 105566562098024
Author(s):  
Kim Bettens ◽  
Laura Bruneel ◽  
Cassandra Alighieri ◽  
Daniel Sseremba ◽  
Duncan Musasizib ◽  
...  

Objective: To provide speech outcomes of English-speaking Ugandan patients with a cleft palate with or without cleft lip (CP±L). Design: Prospective case–control study. Setting: Referral hospital for patients with cleft lip and palate in Uganda. Participants: Twenty-four English-speaking Ugandan children with a CP±L (15 boys, 9 girls, mean 8.4 years) who received palatal closure prior to 6 months of age and an age- and gender-matched control group of Ugandan children without cleft palate. Interventions: Comparison of speech outcomes of the patient and control group. Main Outcome Measures: Perceptual speech outcomes including articulation, resonance, speech understandability and acceptability, and velopharyngeal composite score (VPC-sum). Information regarding speech therapy, fistula rate, and secondary surgery. Results: Normal speech understandability was observed in 42% of the patients, and 38% were judged with normal speech acceptability. Only 16% showed compensatory articulation. Acceptable resonance was found in 71%, and 75% of the patients were judged perceptually to present with competent velopharyngeal function based on the VPC-sum. Additional speech intervention was recommended in 25% of the patients. Statistically significant differences for all these variables were still observed with the control children ( P < .05). Conclusions: Overall, acceptable speech outcomes were found after early primary palatal closure. Comparable or even better results were found in comparison with international benchmarks, especially regarding the presence of compensatory articulation. Whether this approach is transferable to Western countries is the subject for further research.


2009 ◽  
Vol 46 (5) ◽  
pp. 529-531 ◽  
Author(s):  
Mahmoud Al-Dajani

Objective: To evaluate the prevalence of dental caries in patients with cleft lip and/or palate and their cleft-free sibling controls. Methods: The two subject groups (patient and control) comprised 106 participants. The former group consisted of 53 patients with cleft lip and/or palate, aged 12 to 29 years, who visited the Oral and Maxillofacial Surgery Hospital at Damascus University of Syria. The control group consisted of the patients’ siblings who had no clefts, and they were sex matched to the patient group. Dental caries were examined clinically and were reported using the decayed, missing, and filled permanent teeth (DMFT) index. The DMFT scores were compared between the two groups. Results: The author found an overall association of dental caries with the presence of cleft lip and/or palate (odds ratio  =  2.52; 95% confidence interval  =  1.389–4.574; p < .05). The DMFT index scores were proportionally higher in patients with cleft lip and/or palate compared with the control group (p < .001). Conclusion: Subjects with cleft lip and palate are susceptible to dental caries independently of socioeconomic status.


2018 ◽  
Vol 25 (5) ◽  
pp. 104-110
Author(s):  
V. S. Uchaeva ◽  
Yu. A. Vasiliev ◽  
A. S. Gracheva ◽  
O. V. Gulenko ◽  
I. G. Udina

Aim. This research was designed to conduct an associative population genetic study for the consideration of the impact of SNP C677T of the gene MTHFR in the congenital maxillofacial developmental anomalies (CMDA): congenital cleft lip (CCL), congenital cleft palate (CCP), congenital cleft lip and palate (CCLP) in the Krasnodar territory. The aim of the study is to establish the associations between SNP C677T of the gene MTHFR and the development of congenital cleft lip and/ or palate.Materials and methods. In this research, the peculiarities of distribution of SNP C667T of the gene MTHFR in children with congenital cleft lip and/or palate (n=223) and their mothers (n=78) in comparison with the control group (n=124) were studied in the Krasnodar territory. The genetic demographic questionnaires were gathered for children with CMDA, the information about diagnosis was obtained from the medical records. The biological samples, including blood or scrapings of oral mucosa, were collected from children with the pathology and their mothers. The DNA was extracted from the samples by the standard method. The study of the peculiarities of distribution of alleles of SNP C677T of the gene MTHFR was performed by PCR-PFLP with endonuclease Hinf I or by tetra-primer ARMS-PCR method in children with CCL, CCP, CCLP, their mothers and the control group. Statistical processing of the obtained data was performed by the algorithms of the “Statistica” program.Results. While comparing the profiles of frequencies of SNP C677T in children with CCL, CCP and CCLP with the control group, there were identified no significant differences in the frequency of this SNP and no peculiarities of genotypes distribution. There was identified a significant difference in the peculiarities of genotypes distribution with the control group (G=19,5232, d.f.=1, p<0,001) as well as united genotypes (С/C и С/T) in accordance to T/T (G=10,4657, d.f.=1; p<0,001) and united genotypes (C/T и T/T) in accordance to C/C (G=15,1896, d.f.=1, p<0,001) for the mothers of children with CCL, CCP and CCLP.Conclusion. As a result of the study, we established the association of SNP C677T of the MTHFR gene with the development of congenital cleft lip and/or palate: mothers’ T/T genotype is associated with the increased risk of giving birth to a child with CCL, CCP and CCLP (in comparison with mothers with C/C+C/T genotype): odds ratio [OR]=16,63, 95% CI: 3,86-71,71; p=0,0003 and also for mothers with genotypes (C/T+T/T) in comparison with mothers with genotypes C/C: OR=3,22, CI:1,71-6,08; p=0,0002. The amount of risk is not significant in children with CMDA for T/T genotype. So it is possible to make a conclusion about the impact of C677T of the gene MTHFR in the development of CCL, CCP and CCLP only in mother’s genotype. 


Sign in / Sign up

Export Citation Format

Share Document