scholarly journals Analysis of Single Nucleotide Polymorphisms on Locus 13q33.1-34 in Multigenerational Families of Cleft Lip Palate using MassArray

2021 ◽  
Vol 13 (1) ◽  
pp. 27-33
Author(s):  
Praveen Kumar Neela ◽  
Srinivas Reddy Gosla ◽  
Akhter Husain ◽  
Vasavi Mohan ◽  
Sravya Thumoju ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Haplotype Analysis ◽  
Statistical Significance ◽  
Genetic Research ◽  
Allelic Association ◽  
Chromosome Polymorphism ◽  
Single Nucleotide ◽  
Multigenerational Families ◽  
Significant Difference ◽  
Cleft Lip Palate

BACKGROUND: Cleft lip palate is a common congenital anomaly with multifactorial etiology. Many high-risk markers at different loci were reported to be involved in its etiology. Advanced genetic research led to the discovery of evidence of a new linkage on 13q33.1-34 region at marker rs1830756 in two multigenerational Indian families. However, no further study was reported to confirm or validate this linkage in other families. Hence, the present study was designed.METHODS: Twenty multigenerational families affected by non-syndromic cleft lip palate were selected for the study. Polymorphisms, rs1830756, rs1323672, rs1935135 of FAM155A gene; rs1961495, rs953386, rs1411040 of COL4A1 gene; and rs726449, rs984300 of MYO16 gene were selected. Genomic DNA was isolated and sent for genetic analysis by single nucleotide polymorphism (SNP) genotyping using the MassArray method. Statistical analysis of the genomic data was done by PLINK. Bonferroni correction was applied and haplotype analysis was done using Haploview software.RESULTS: Polymorphisms followed the Hardy Weinberg Equilibrium. In the allelic association, all the polymorphisms analysed showed no statistical significance. Hence, there was no significant difference in the allelic frequencies between non-syndromic cleft lip palate patients and healthy controls. The odds ratio was not more than 1.6 for all the SNPs. Haplotype analysis showed that haplotypes were not significantly higher in non-syndromic cleft patients than in control subjects.CONCLUSION: There is no association between SNPs analysed in the locus 13q33.1-34 with cleft lip palate.KEYWORDS: cleft lip palate, chromosome, polymorphism

scholarly journals Association of Single Nucleotide Polymorphisms on Locus 18q21.1 in the Etiology of Nonsyndromic Cleft Lip Palate (NSCLP) in Indian Multiplex Families

2021 ◽  
Vol 08 (01) ◽  
pp. 024-031
Author(s):  
Praveen Kumar Neela ◽  
Gosla Srinivas Reddy ◽  
Akhter Husain ◽  
Vasavi Mohan ◽  
Sravya Thumoju ◽  
...  
Keyword(s):  
High Risk ◽  
Single Nucleotide Polymorphisms ◽  
Cleft Lip ◽  
Genetic Research ◽  
P Value ◽  
Allelic Association ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Cleft Lip Palate ◽  
Multiplex Families

Abstract Background Cleft lip palate (CLP) is a common congenital anomaly with multifactorial etiology. Many polymorphisms at different loci on multiple chromosomes were reported to be involved in its etiology. Genetic research on a single multigenerational American family reported 18q21.1 locus as a high-risk locus for nonsyndromic CLP (NSCLP). However, its association in multiple multiplex families and Indian population is not analyzed for its association in NSCLP. Aim This study was aimed to evaluate whether high-risk single nucleotide polymorphisms (SNPs) on chromosome 18q21.1 are involved in the etiology of NSCLP in multiplex Indian families. Materials and Methods Twenty multigenerational families affected by NSCLP were selected for the study after following inclusion and exclusion criteria. Genomic DNA was isolated from the affected and unaffected members of these 20 multiplex families and sent for genetic analysis. High-risk polymorphisms, such as rs6507872 and rs8091995 of CTIF, rs17715416, rs17713847 and rs183559995 of MYO5B, rs78950893 of SMAD7, rs1450425 of LOXHD1, and rs6507992 of SKA1 candidate genes on the 18q21.1 locus, were analyzed. SNP genotyping was done using the MassARRAY method. Statistical analysis of the genomic data was done by PLINK. Results Polymorphisms followed the Hardy–Weinberg equilibrium. In the allelic association, all the polymorphisms had a p-value more than 0.05. The odds ratio was not more than 1.6 for all the SNPs. Conclusion High-risk polymorphisms, such as rs6507872 and rs8091995 of CTIF, rs17715416, rs17713847 and rs183559995 of MYO5B, rs78950893 of SMAD7, rs1450425 of LOXHD1, and rs6507992 of SKA1 in the locus 18q21.1, are not associated with NSCLP in Indian multiplex families.

Effect of Presurgical Nasoalveolar Molding on Nasal Symmetry in Unilateral Complete Cleft Lip/Palate Patients after Primary Cheiloplasty without Concomitant Nasal Cartilage Dissection

2018 ◽  
Vol 55 (7) ◽  
pp. 935-940 ◽  
Author(s):  
Zhigang Liang ◽  
Jinfeng Yao ◽  
Philip K.T. Chen ◽  
Cangshang Zheng ◽  
Jiying Yang
Keyword(s):  
Repeated Measures ◽  
Cleft Lip ◽  
Early Stage ◽  
Statistical Significance ◽  
Deformity Correction ◽  
Nasal Cartilage ◽  
Significant Difference ◽  
Cleft Lip Palate ◽  
Nasoalveolar Molding

Objective: The objective of this study was to assess the efficacy of presurgical nasoalveolar molding (PNAM) on long-term nasal symmetry and shaping after primary cheiloplasty in patients with unilateral complete cleft lip/palate (UCL/P). Design: This was a two-group, parallel, retrospective, randomized clinical trial. Setting: The setting for this study was the Chang Gung Craniofacial Center in Taoyuan, Taiwan. Patients: Patients were divided into one of the following two groups: infants with UCL/P who underwent PNAM (PNAM group, n = 42) and infants with UCL/P who did not undergo PNAM (non-PNAM group, n = 42). Interventions: Interventions included PNAM and primary cheiloplasty without nasal cartilage dissection. Main Outcome Measures: In this study, 4- to 5-year postoperative full-face and submental oblique photographs were taken of all patients and scored from 1 to 5 points by 10 medical evaluators. The scores were statistically analyzed using repeated-measures analysis of variance, and P < .05 was considered to represent statistical significance. Results: After 1 to 3 months of PNAM but before primary cheiloplasty, the displaced nasal and alveolar cartilage showed obvious improvement. However, the scores in the PNAM and non-PNAM groups at 4 to 5 years postoperatively were 66.62 ± 14.25 and 66.31 ± 15.08, respectively. There was no significant difference between the two groups ( F = 0.009, P = .923). Conclusion: PNAM as an early-stage adjunctive therapy for nasal deformity correction is beneficial before primary cheiloplasty, but it is insufficient to maintain long-term nostril symmetry after primary cheiloplasty without nasal cartilage dissection.

Association between 10 Microsatellite Markers and Nonsyndromic Cleft Lip Palate in the Chilean Population

2004 ◽  
Vol 41 (2) ◽  
pp. 163-167 ◽  
Author(s):  
Rafael Blanco ◽  
José Suazo ◽  
JoséLuis Santos ◽  
Mónica Paredes ◽  
Hsiao Sung ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Statistical Significance ◽  
Positive Family History ◽  
Case Control ◽  
University Hospital ◽  
Control Group ◽  
Exact Test ◽  
Rehabilitation Centers ◽  
Cleft Lip Palate ◽  
Chilean Population

Objective The objective of this case-control study was to evaluate the possible association between nonsyndromic cleft lip/palate (NSCLP) and 10 genetic markers in four chromosomal regions in the admixed Spanish-Amerindian Chilean population. Setting Study participants included 56 patients with NSCLP identified and interviewed for positive family history during the course of clinical examinations at different rehabilitation centers in the cities of Santiago and Talca, Chile. A control group of 59 normal individuals without known familial antecedents of clefting was obtained from blood bank donors of the University Hospital, University of Chile. Cases and controls belonged to low- to low-middle socioeconomic strata. Results Ten markers from chromosome 4p, 4q, 6p, 17q, and 19q were assessed (MSX1, D4S175, D4S192, F13A1, EDN1, D6S89, D6S105, D6S109, D17S579, BCL3). Four of them showed significant deviations from Hardy-Weinberg expectations in controls, according to the exact test (D4S192, BCL3, F13A1, and D6S89). The case-control comparison by means of the CLUMP program showed significant differences only in BCL3, and D6S109 almost reached statistical significance. Conclusions Most of the genetic regions with positive results in Caucasian populations may not be involved in NSCLP in Chile, regardless of the positive evidence for the candidate region on chromosome 19. Similar findings have been reported recently in the Chinese population.

5,10-Methylenetetrahydrofolate reductase single nucleotide polymorphisms and gene-environment interaction analysis in non-syndromic cleft lip/palate

2014 ◽  
Vol 122 (2) ◽  
pp. 109-113 ◽  
Author(s):  
Bernardette Estandia-Ortega ◽  
José A. Velázquez-Aragón ◽  
Miguel A. Alcántara-Ortigoza ◽  
Miriam E. Reyna-Fabian ◽  
Sandra Villagómez-Martínez ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Cleft Lip ◽  
Methylenetetrahydrofolate Reductase ◽  
Interaction Analysis ◽  
Environment Interaction ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Gene Environment Interaction ◽  
Gene Environment ◽  
Cleft Lip Palate

No Evidence for Linkage and Association between 4q Microsatellite Markers and Nonsyndromic Cleft Lip and Palate in Chilean Case-Parents Trios

2005 ◽  
Vol 42 (3) ◽  
pp. 267-271 ◽  
Author(s):  
Rafael Blanco ◽  
José Suazo ◽  
JoséLuis Santos ◽  
Hernán Carreño ◽  
Hernán Palomino ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Microsatellite Markers ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Association Studies ◽  
Statistical Significance ◽  
P Value ◽  
Genetic Trait ◽  
Multiple Alleles ◽  
Cleft Lip Palate

Objective Nonsyndromic cleft lip/palate (NSCLP) has the characteristics of a complex genetic trait. Linkage and association studies have suggested that one or more clefting loci may be located on chromosome 4q. The goal of this study was to evaluate the possible linkage and association due to linkage disequilibrium between five microsatellite markers located on 4q28 to 4q33 and NSCLP, using the case-parent trio design. Subjects and Methods A total of 56 Chilean families (32 simplex and 24 multiplex) were recruited. Microsatellite markers were analyzed using polymerase chain reaction with fluorescent-labeled forward primers, followed by electrophoresis on a laser-fluorescent sequencer. Case-parents trios were ascertained to assess linkage and linkage disequilibrium through a multistage procedure. Transmission disequilibrium tests for multiple alleles were carried out to assess the statistical significance of 4q28 to 4q33 microsatellite markers. Results Only weak evidence for linkage was obtained for the FGA marker (asymptotic uncorrected p value = .08 and empirical p value = .05). Only the FGA and UCP1 markers were selected for association analysis in trios, with unrelated cases achieving a nearly significant result for the UCP1 marker (asymptotic uncorrected p value = .07 and empirical p value = .19). Conclusion Though the FGA and UCP1 markers showed nearly significant p values for linkage and association, respectively, the results of the present study provided insufficient evidence of the existence of a major susceptibility locus in the 4q region that was analyzed in the present study.

scholarly journals An Evaluation of Muscle Repair Techniques: Implications in Musculoskeletal Healing and Corollaries in Oral-Facial Clefting

2020 ◽  
Author(s):  
Jaehoon Kim ◽  
Jaehoon Choi ◽  
Junhyung Kim ◽  
Taehee Jo ◽  
Il Sun Hwang ◽  
...  
Keyword(s):  
Western Blotting ◽  
Muscle Fiber ◽  
Cleft Lip ◽  
The Other ◽  
Sprague Dawley ◽  
Gait Symmetry ◽  
Tnf Α ◽  
Significant Difference ◽  
Cleft Lip Palate ◽  
The Right

Abstract We performed an animal study to identify the techniques associated with the best muscle healing outcomes in cleft lip/palate surgery. The right triceps of thirty adult male Sprague-Dawley rats were cut and repaired by three different suture techniques: simple (n=10), overlapping (n=10), and splitting sutures (n=10). Muscle tissues were isolated from 5 rats per group 1 and 8 weeks postoperation. The inflammatory response and muscle fiber healing were evaluated by hematoxylin and eosin (H&E) staining, western blotting, immunohistochemistry for TNF-α and IL-1β, and immunofluorescence for laminin and MyoD. Grip strength (N/100 g) and spatial gait symmetry were evaluated before surgery and 1, 2, 4 and 8 weeks postoperation. Eight weeks postoperation, grip force per weight was significantly higher in the simple suture (median, 3.49; IQR, 3.28-3.66) and overlapping groups (median, 3.3; IQR, 3.17-3.47) than the splitting group (median, 2.91; IQR, 2.76-3.05). There was no significant difference in range of motion between groups. The simple group exhibited significant remission of inflammation by H&E staining and lower expression of TNF-α and IL-1β than the other groups by western blotting and immunohistochemistry. Immunofluorescence revealed stronger expression of MyoD and weaker expression of laminin in the splitting group than in the other groups at week 8, indicating prolonged inflammation and healing followed by poor muscle fiber remodeling. Simple interrupted sutures and overlapping sutures showed similar muscle healing in this study. Therefore, there was some limitation to reconstructing the philtral column using overlapping sutures alone, and additional procedures could be needed.

scholarly journals Physiological maturation stage of cervical vertebrate index in cleft lip/palate and non-cleft lip/palate patients

2019 ◽  
Vol 4 (3) ◽  
pp. 149
Author(s):  
Wenti Komala ◽  
Endah Mardiati ◽  
Eky Soeria Soemantri ◽  
Isnaniah Malik
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Cervical Vertebrae ◽  
Maturation Stage ◽  
Lateral Cephalogram ◽  
Significant Difference ◽  
Cleft Lip Palate ◽  
Stage Transition ◽  
Maturation Index ◽  
Cervical Vertebral Maturation

Cleft lip and palate is one of the most common congenital anomalies. Cleft lip and palate patients encounter growth problems in lip and palate area, although their overall growth and development remains unknown. Cervical vertebral maturation are indicators of physiological maturation used in interceptive treatment and orthognathic surgery. The present study aims to determine physiological maturation stage of cervical vertebrae maturation index in cleft andnon-cleft patients. Lateral cephalogram of 26 cleft patients and 27 non-cleft patients with a range of chronological age from 8-16 years old were involved. The cervical vertebrae maturation were analyzed in six stages of cervical vertebrae maturation method of Hassel and Farman. Data were analyzed using t-test (p≤ 0.05). The result shows that physiologicalmaturation stage of cervical vertebrae maturation index in cleft and non-cleft patients has no significant difference in stage acceleration (p= 0.38), stage transition (p= 0.41) and deceleration (p= 0.39). Likewise, there is no significant difference in physiological maturation stage of cervical vertebrae maturation index between cleft and non-cleft patients. 

Speech and Hearing Outcomes of the Patients with Cleft Lip and Palate: Comparison between One-Stage Simultaneous and Two-Stage Surgical Repairs

2020 ◽  
Vol 103 (11) ◽  
pp. 1171-1177
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Common Belief ◽  
Two Stage ◽  
Treatment Protocols ◽  
Palatal Fistula ◽  
One Stage ◽  
Significant Difference ◽  
Cleft Lip Palate ◽  
Palate Repair

Background: Conventional treatment for cleft lip and palate patients is lip repair at three to four months and then palatal repair at nine to 12 months of age. However, for the patients who delay seeing a doctor especially in a developing area such as Northern Thailand, simultaneous lip and palate repair is performed at 12 to 18 months of age or later, depending on the age at the first visit. It is a common belief that patients with cleft lip and palate will be behind non-cleft patients in early development phonemes because of the open palate. This delay persists until the palate is repaired and on into the postoperative period. This proposition has not been proven with long-term clinical outcomes in one-stage repairs. Objective: To investigate the effects of one-stage repair on speech assessment, hearing, and incidence of palatal fistula. The results were compared with conventional two-stage surgical repairs. Materials and Methods: The present study was designed two groups. Group 1 consisted of 25 children (mean age 11.28±1.93 years) treated with a one-stage repair. Cleft lip, palate, and alveolus were repaired at a single surgical session in the first 18 months of life (mean age at the time of surgery 13.52±4.51 months). Group 2 consisted of 17 children (mean age 11.02±2.23 years) treated in two-stage surgical repairs. Lip repair was performed at a median age of 4.01 months (IQR 3.62 to 5.46), and palate repair was performed at a mean age of 13.54±4.14 months. Both groups underwent cleft lip and palate repairs at the Division of Plastic Surgery, Department of Surgery, Faculty of Medicine, Chiang Mai University between January 1, 2004 and December 31, 2010. Speech and hearing for all patients were evaluated by experienced ENT doctors. The palatal fistula was evaluated by the same plastic surgeons. Results: One-stage repair showed significant normal articulation and less articulation disorder when compared with two-stage surgical repairs. However, no significant difference was determined for other speech assessments, hearing, and incidence of palatal fistula. Conclusion: Because one-stage repair seems to have a more positive influence on articulation, and both surgical treatment protocols give similar results on speech assessments, hearing, and incidence of palatal fistula, regardless of the timing of the surgery, the one-stage repair is not inferior to conventional two-stage surgical repairs for patients in developing areas. This is due to several important advantages, such as less hospitalization, lower cost, and less chance of nosocomial infection. Keywords: One-stage repair, Speech, Hearing, Palatal fistula, Cleft lip, Palate

scholarly journals A Comparative Study of Facial Asymmetry in Philippine, Colombian, and Ethiopian Families with Nonsyndromic Cleft Lip Palate

2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Liliana Otero ◽  
Luis Bermudez ◽  
Karina Lizarraga ◽  
Irene Tangco ◽  
Rocelyn Gannaban ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Statistical Significance ◽  
Facial Asymmetry ◽  
Control Group ◽  
Study Group ◽  
Middle Line ◽  
Cleft Lip Palate ◽  
Left And Right ◽  
Directional Asymmetries ◽  
Facial Differences

Objective. To compare the asymmetry displayed by Philippine, Colombian, and Ethiopian unaffected parents of patients with nonsyndromic cleft palate (NSCLP) and a control population. Methods. Facial measurements were compared between unaffected parents of NSCLP patients and those in the control group for three populations from South America, Asia, and Africa by anthropometric and photographic measurements. Fluctuating and directional asymmetries, height and width proportions, were analyzed and compared. Results. Fluctuating asymmetries (ear length, middle line to Zigion perpendicular for left and right sides) and variations in the facial thirds demonstrated statistical significance in the study group of unaffected parents from Colombia and Philippines, while increased interorbital distance was evident in the unaffected Ethiopian parents of NSCLP patients. Conclusions. The facial differences in unaffected parents could indicate an underlying genetic liability. Identification of these differences has relevance in the understanding of the etiology of NSCLP.

Comparison of Microbial Activity Among Infants With or Without Using Presurgical Nasoalveolar Molding Appliance

2020 ◽  
Vol 57 (6) ◽  
pp. 762-769
Author(s):  
Hanieh Hassani ◽  
Jung-Wei Chen ◽  
Wu Zhang ◽  
William Hamra
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Pearson Correlation ◽  
Bacterial Count ◽  
Colony Count ◽  
Caries Risk ◽  
Significant Difference ◽  
Cleft Lip Palate ◽  
Ph Level ◽  
Nasoalveolar Molding

Purpose: The aim of the current study is as follows: (1) to study whether wearing the presurgical nasoalveolar molding appliance (PNAM) had facilitated the establishment of Streptococcus mutans and Lactobacillus ( LB) and to determine other factors including pH and caries susceptibility associated with wearing the PNAM. Methods: Saliva samples of 61 infants (4.5 ± 2.06 months old) were collected from the following 3 groups: PNAM (n = 23), healthy (n = 30), and cleft lip and palate (CLP) without any treatment (n = 8). Saliva samples were assessed using selective agar to enumerate total LB and S mutans and subjected to adenosine triphosphate (ATP)-driven bioluminescence determinations using a luciferin-based assay system, and pH level was evaluated. One-way analysis of variance with least significant difference post hoc test ( P < .05) and Pearson correlation were used to evaluate S mutans, LB, pH, and ATP levels. Results: A total of 63 patients (30 healthy patients, 23 patients with cleft lip/palate who had PNAM appliance and 8 patients with cleft lip/palate who did not use the appliance) were seen in this study. There is a significant difference in pH ( P = .012), LB Caries Risk Test ( P < .001), LB colony count ( P < .001), S mutans Caries Risk Test ( P < .001), and S mutans colony count ( P < .001) among the 3 groups (PNAM > CLP > healthy). The ATP level was not significantly different among the 3 groups. Conclusion: Higher bacterial count and lower pH were found in the PNAM group. Cleft lip and/or palate patients wearing the PNAM appliance are at higher risk for dental caries.

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