scholarly journals MOLECULAR GENETIC STUDY OF THE IMPACT OF SNP C677T OF THE GENE MTHFR IN THE DEVELOPMENT OF CONGENITAL ISOLATED CLEFT LIP AND PALATE

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. 

2020 ◽  
Vol 10 (2) ◽  
pp. 368-374
Author(s):  
I. V. Nesterova ◽  
M. N. Mitropanova ◽  
G. A. Chudilova ◽  
S. V. Kovaleva ◽  
E. O. Khalturina

It is known that children with congenital cleft lip and palate are suffering from recurrent respiratory infections, which worsen the state of their health, and also complicate the results of reconstructive surgical treatment. The aim of the study was to detect defects of mucosal immunity in children with congenital cleft lip and palate, suffering from recurrent respiratory infections, and to create the program of local interferon corrective therapy with an assessment of its effectiveness. The studies included 56 children from the age of 1 to 3 years. Three groups of children were formed: group 1 – 26 children with congenital cleft lip and palate (antibiotic therapy); group 2 — 30 children with congenital cleft lip and palate (antibiotic therapy + local interferon therapy), group 3 — the control group. The clinical examination included a medical history, an assessment of the symptoms of recurrent episodes of acute respiratory infections and exacerbations of chronic infections. Microbiological studies were performed using standard methods. The status of local immunity was detected: the concentrations of secretory IgA, cytokines IL-17, IL-4, IL-6, IL-1β, IFNγ in the oral fluid were tested by ELISA. Results of the study established that in group 1 and group 2 clinical criteria of immunodeficiency with an infectious syndrome were revealed: repeated acute respiratory viral infections from 10 or more times a year, complicated by frequent exacerbations of chronic bacterial infection (up to 10 or more per year). Assessment of the state of local immunity in children with congenital cleft lip and palate revealed a lack of sIgA compared with the control group. Before treatment in group 2 oral fluid level of IL-17, IL-6 were statistically significant increase (p < 0.05); the results of the study also established increase in the level of IL-1β and a decrease in anti-inflammatory IL-4 and regulatory IFNγ relative to the control group (p > 0.05). After complex treatment with the inclusion of local interferon therapy in group 2 the appearance of sIgA, increase in the concentration of IL-4, IL-1β and a decrease IL-17 in oral fluid were observed (p > 0.05). The concentrations of IL-6, IFNγ did not change (p > 0.05). After treatment in group 2 there were a decrease in exacerbations of chronic upper respiratory tract infection and in frequency of acute respiratory viral infections compared with group 1 (p < 0.05). Positive clinical efficacy of local interferon therapy (the gel of recombinant IFNα2b in combination with oxidants — Viferon gel) in the process of staged rehabilitation of children with congenital cleft lip and palate has a protective clinical effect in reducing the frequency of acute respiratory viral infections, reducing the number of postoperative complications, reducing hospital stay, duration of antibacterial therapy and the number of exacerbations of chronic bacterial infection.


Author(s):  
Santosh Kumar

Background: Midface symmetry is an important indicator of success of complete unilateral cleft lip and palate (CUCLP) treatment. There is little literature on the long-term effects of Presurgical Nasoalveolar Molding (PNAM) on Midface symmetry in children treated for CUCLP. Material and Methods: This case-control study was carried out in the Department of Burn and Plastic Surgery at Government Medical College and Hospital, Bettiah, Bihar, India from may 2018 to Dec 2019. Complete unilateral CL+P patients had basilar and frontal photographs at two time points: (1) initial (2) postsurgical. 30 nasal molding patients and 20 control patients were included. Presurgical nasal molding was performed prior to primary lip repair in intervention group. No nasal molding was performed in control group. Results: A statistically significant difference was found for postsurgical nostril height-width ratio (P< .05). No other statistically significant differences were found. Conclusion: Nasal molding and surgery resulted in more symmetrical nostril height-width ratios than surgery alone. Alar groove ratios were not statistically significantly different between groups perhaps because application of nasal molding was not early enough; postsurgical nasal splints were not utilized; overcorrection was not performed for nasal molding


2021 ◽  
pp. 105566562110295
Author(s):  
Åsa C. Okhiria ◽  
Fatemeh Jabbari ◽  
Malin M. Hakelius ◽  
Monica M. Blom Johansson ◽  
Daniel J. Nowinski

Objective: To investigate the impact of cleft width and cleft type on the need for secondary surgery and velopharyngeal competence from a longitudinal perspective. Design: Retrospective, longitudinal study. Setting: A single multidisciplinary craniofacial team at a university hospital. Patients: Consecutive patients with unilateral or bilateral cleft lip and palate and cleft palate only (n = 313) born from 1984 to 2002, treated with 2-stage palatal surgery, were reviewed. A total of 213 patients were included. Main Outcome Measures: The impact of initial cleft width and cleft type on secondary surgery. Assessment of hypernasality, audible nasal emission, and glottal articulation from routine follow-ups from 3 to 16 years of age. The assessments were compared with reassessments of 10% of the recordings. Results: Cleft width, but not cleft type, predicted the need for secondary surgery, either due to palatal dehiscence or velopharyngeal insufficiency. The distribution of cleft width between the scale steps on a 4-point scale for hypernasality and audible nasal emission differed significantly at 5 years of age but not at any other age. Presence of glottal articulation differed significantly at 3 and 5 years of age. No differences between cleft types were seen at any age for any speech variable. Conclusions: Cleft width emerged as a predictor of the need for secondary surgery as well as more deviance in speech variables related to velopharyngeal competence during the preschool years. Cleft type was not related to the need for secondary surgery nor speech outcome at any age.


Author(s):  
Manoel Itaguacy Leite NOVAIS JUNIOR ◽  
Manuella Santos Carneiro ALMEIDA ◽  
Camila Helena Machado da COSTA ◽  
Tassia Cristina de Almeida Pinto SARMENTO ◽  
Luis Ferreira de SOUSA FILHO ◽  
...  

ABSTRACT Objective: Evaluating the development of the permanent cuspids in children from Paraíba with cleft lip and palate applying the Nolla and the Demirjian methods. Methods: A cross-sectional study using an inductive approach and applying a comparative statistical procedure and direct documentation research technique. The universe of the study consisted of children assisted at the orthodontic practice of the Brazilian Association of Dentistry - Paraíba Section. The sample comprised 72 pairs of panoramic radiographs of children with and without cleft lip and palate from the same gender and, age difference of up to 30 days, ranging from 5 to 13 years of age. The study has evaluated the development of 576 cuspids. The images were evaluated by three duly calibrated examiners concomitantly, and the calcification stages were determined by a consensus. The stages of the cuspids calcification were evaluated in the panoramic radiographs according to Nolla and Demirjian classifications. Results: The average of the calcification stage of teeth was correspondingly higher in the control group than in the case group, showing a development delay of the cuspid teeth in the cleft lip and palate patients. The lower cuspids were significantly more developed than the upper cuspids (p <0.001). There were no significant differences between the sides. There was early tooth development in females but without significant difference. Conclusion: It was possible to note that patients with cleft lip and palate presented a delay in the development of the permanent cuspids when compared to non-cleft lip and palate patients, thus, reinforcing the importance of the individualization of the orthodontic planning.


BMJ Open ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. e046798
Author(s):  
Dengfeng Liu ◽  
Li Pan ◽  
Yin Gao ◽  
Jiefan Liu ◽  
Feng Li ◽  
...  

ObjectiveTo systematically assess the efficacy and safety of dexmedetomidine as an anaesthesia adjuvant for cleft lip and palate (CLP) repair in children.DesignSystematic review and meta-analysis.Data sourcesPubMed, Embase, Cochrane, China National Knowledge Infrastructure (CNKI), China Science and Technology Journal Database (VIP) and Wanfang (up to October 2020). Studies in languages other than English and Chinese were excluded.Eligibility criteria for selecting studiesRandomised controlled trials (RCTs) evaluating the impact of dexmedetomidine on emergence agitation (EA), the need for postoperative rescue analgesics, postoperative nausea and vomiting (PONV), and other adverse events in paediatric patients during CLP repair.Data extraction and synthesisThe quality of evidence was assessed by using the Cochrane Review Methods and the Grading of Recommendations Assessment, Development and Evaluation approach. Data were screened, extracted and assessed by two independent authors. Outcomes were reported as a risk ratio (RR) with a 95% CI. A random-effect model was used when heterogeneity was detected.ResultsThirteen studies including 1040 children met the inclusion criteria. The incidence of EA was significantly decreased in the dexmedetomidine group (RR, 0.19; 95% CI 0.10 to 0.36; p<0.00001; I2=56%) as compared with the control group. Paediatric patients receiving dexmedetomidine had lower postoperative analgesic requirements (RR, 0.27; 95% CI 0.10 to 0.73; p=0.01; I2=84%) and a lower incidence of respiratory adverse events (RR, 0.49; 95% CI 0.31 to 0.78; p=0.003; I2=0%). There were no significant differences in the risk of PONV and cardiovascular adverse events.ConclusionsThere was a lack of high-quality studies in this field. Perioperative administration of dexmedetomidine reduced the need for postoperative rescue analgesics and the incidence of EA in children without side effects undergoing CLP repair. However, further verification with larger samples and higher-quality RCTs is needed.


Author(s):  
Sara Rizell ◽  
Annelise Küseler ◽  
Arja Heliövaara ◽  
Pål Skaare ◽  
Eli Brinck ◽  
...  

Summary Background It is suggested that dental agenesis affects maxillary protrusion and dental arch relationship in children with unilateral cleft lip and palate (UCLP). In addition, an association between the need for orthognathic surgery and dental agenesis is reported. Aim The aim was to study the impact of maxillary dental agenesis on craniofacial growth and dental arch relationship in 8-year-old children with UCLP. Subjects and methods The sample consisted of individuals with UCLP from Scandcleft randomized trials. The participants had available data from diagnosis of maxillary dental agenesis as well as cephalometric measurements (n = 399) and GOSLON assessment (n = 408) at 8 years of age. Results A statistically significant difference was found for ANB between individuals with agenesis of two or more maxillary teeth (mean 1.52°) in comparison with those with no or only one missing maxillary tooth (mean 3.30° and 2.70°, respectively). Mean NSL/NL was lower among individuals with agenesis of two or more maxillary teeth (mean 9.90°), in comparison with individuals with no or one missing maxillary tooth (mean 11.46° and 11.45°, respectively). The number of individuals with GOSLON score 4–5 was 47.2% in the group with two or more missing maxillary teeth and 26.1% respectively 26.3% in the groups with no or one missing maxillary tooth. No statistically significant difference was found in the comparison between individuals with no agenesis or with agenesis solely of the cleft-side lateral. Conclusion Maxillary dental agenesis impacts on craniofacial growth as well as dental arch relationship and should be considered in orthodontic treatment planning.


2017 ◽  
Vol 55 (2) ◽  
pp. 220-225 ◽  
Author(s):  
Ieva Bagante ◽  
Inta Zepa ◽  
Ilze Akota

Objective: Rhinoplasty in patients with complete unilateral cleft lip and palate (UCLP) is challenging, and the surgical outcome of the nose is complicated to evaluate. The aim of this study was to assess the nasolabial appearance of patients with UCLP compared with a control group. Design: Cross-sectional study. Setting: Riga Cleft Lip and Palate Centre, Latvia. Participants: All consecutive 35 patients born between 1994 and 2004 with nonsyndromic complete UCLP were included. Of 35 patients, 29 came for checkup; the mean age was 14.7 years (range 10-18). In the control group, 35 noncleft participants at 10 years of age were included. Interventions: Nasolabial appearance was evaluated from 3-dimensional images using a 3-dimensional stereo-photogrammetric camera setup (3dMDface System), the results being analysed statistically. Results: In UCLP group, a statistically significant difference between cleft and noncleft side was found only in alar wing length ( P < .05). The difference of nasolabial anthropometric distances in the control group between the left and right side was not significant. The difference between the UCLP group and the control group was significant in all anthropometric distances except the lateral lip length to cupid’s bow. Conclusions: The nasolabial appearance with acceptable symmetry after cleft lip and reconstructive surgery of the nose was achieved. Symmetry of the nasolabial appearance in patients with UCLP differed from those in the control group. The 3D photographs with a proposed set of anthropometric landmarks for evaluation of nasolabial appearance seems to be a convenient, accurate, and noninvasive way to follow and evaluate patients after surgery.


2017 ◽  
Vol 55 (2) ◽  
pp. 168-172 ◽  
Author(s):  
Omer Demirtas ◽  
Fahrettin Kalabalik ◽  
Asim Dane ◽  
Ali Murat Aktan ◽  
Ertugrul Ciftci ◽  
...  

Objective: The purposes of this study were to evaluate and compare the maxillary sinus volume (MSV) of patients with a unilateral cleft lip and palate (UCLP) between the cleft side and noncleft side and between adolescent patients with UCLP and a control (noncleft) group using cone beam computed tomography (CBCT). Methods: CBCT images of 44 UCLP patients (29 males and 15 females, with a mean [SD] age of 13.5 [5.0] years) and 44 (22 males and 22 females, with a mean [SD] age 14.9 [4.2] years) age- and sex-matched controls were evaluated in this study. Each maxillary sinus was assessed 3-dimensionally, segmented, and its volume was calculated. Results: There were no statistically significant differences between the age and gender distributions of the groups. There was a statistically significant difference in the MSVs of the cleft (10996.78±3522.89 mm3) versus the noncleft side (10382.3±3416.2 mm3; P < .05)] but no significant difference between the MSVs of the right and left sides ( P > .05). In the intergroup comparison, the mean MSVs of the UCLP patients (10701.52±3369.33 mm3) were significantly smaller than those of the control group (16054.08 ± 5293.96 mm3; P < .001). Conclusions: The MSVs of the UCLP patients showed a statistically significant decrease compared to those of the controls ( P < .001). There was also a significant difference in the MSVs of the cleft and noncleft sides of the UCLP patients ( P < .05).


2021 ◽  
Vol 58 (5) ◽  
pp. 612-618
Author(s):  
Evgenija Markovic ◽  
Nemanja Marinkovic ◽  
Ksenija Zelic ◽  
Petar Milovanovic ◽  
Marija Djuric ◽  
...  

Objective: To assess dental age and deviations of dental from chronological age according to the Willems and Cameriere methods (European formula) in patients with cleft lip and/or cleft palate (CL/P) and compare it with control group. Design: Retrospective cross-sectional study. Setting: Clinic of Orthodontics. Participants: Sixty-nine patients with CL/P between 6 and 15 years of age (55 with unilateral and 14 with bilateral CL/P) with 148 panoramic radiographs. The same number of radiographs was examined in the age-matched control group. Main Outcome Measures: Estimation and comparison of dental age and differences of dental from chronological age in relation to the type of cleft, sex, and age in the group of patients with and without CL/P according to Willems and Cameriere method. Results: No significant intersex and intergroup differences were found in deviations of dental from chronological age according to Cameriere method ( P > .05). Significant difference in deviation of dental from chronological age was found between the patients with and without CL/P according to Willems method ( P < .001). Conclusion: Cameriere European formula for dental age estimation, which is not influenced by sex and tooth morphology, showed similar dental development of children with and without CL/P. However, Willems method detected that deviation of dental from chronological age significantly differed between children with and without clefts.


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