Genetic significance of muscle segment homeo box1 gene in South Indian population for cleft lip and palate

Objective: The objective of the study was to evaluate the results of nasoalveolar molding (NAM) in the treatment of patients with unilateral cleft lip and palate using a modified technique in a South Indian population. Study design: The design was a prospective study with blinded measurements. The sample constituted 10 complete unilateral cleft lip and palate (UCLP) patients who underwent NAM therapy by the same operator. Direct extra and intra oral anthropometric measurements were done using a digital vernier caliper before and after NAM therapy. A photographic evaluation was also done to rate the nasal deformity post NAM therapy. The differences between measurements were statistically analyzed using paired t tests. Results: The extra oral measurements revealed a statistically significant increase in bi-alar width, columellar length and width. The intraoral measurements demonstrated a statistically significant reduction in anterior alveolar cleft width. There was also a significant increase in arch width and greater and lesser segments length. All cases were rated as improved by the surgeons in photographic analysis. Conclusion: The study has quantitatively shown that the modified NAM therapy improved nasal asymmetry by columellar lengthening and effectively molded the maxillary alveolar arch.

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IRF6 rs2235375 single nucleotide polymorphism is associated with isolated non-syndromic cleft palate but not with cleft lip with or without palate in South Indian population

Brazilian Journal of Otorhinolaryngology ◽

10.1016/j.bjorl.2017.05.011 ◽

2018 ◽

Vol 84 (4) ◽

pp. 473-477 ◽

Cited By ~ 3

Author(s):

Venkatesh Babu Gurramkonda ◽

Altaf Hussain Syed ◽

Jyotsna Murthy ◽

Bhaskar V.K.S. Lakkakula

Keyword(s):

Single Nucleotide Polymorphism ◽

Cleft Palate ◽

Cleft Lip ◽

Indian Population ◽

South Indian Population ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

South Indian

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Lack of association between IRF6 polymorphisms and nonsyndromic oral clefts in South Indian population

Dentistry 3000 ◽

10.5195/d3000.2013.9 ◽

2013 ◽

Vol 1 (1) ◽

pp. 25-29 ◽

Cited By ~ 1

Author(s):

Venkatesh Babu Gurramkonda ◽

Jyotsna Murthy ◽

Altaf Hussain Syed ◽

Bhaskar VKS Lakkakula

Keyword(s):

Cleft Lip ◽

Indian Population ◽

Gene Interaction ◽

South Indian Population ◽

Nucleotide Polymorphisms ◽

Pairwise Linkage Disequilibrium ◽

Oral Clefts ◽

South Indian ◽

Chi Squared ◽

Hardy Weinberg Equilibrium

Objective: This present study is aimed to investigate the association between interferon regulatory factor 6 (IRF6), single nucleotide polymorphisms (SNPs), and nonsyndromic cleft lip without without cleft palate (NSCLP) in the South Indian population. Subject and Methods: For this study, 190 unrelated NSCLP patients and 189 controls without clefts were genotyped with rs2235371 (V2741) and rs642961 SNPs using PCR-RFLP. The associations between NSCLP groups and IRF6 gene polymorphisms, as well as haplotypes, were analyzed using chi-squared test and 95% confidence interval (95%CI) of the odds ratios were calculated with the control groups as reference. Results: For controls, the minor allele frequencies of both variants, V2741 and rs642961, were 7.1% and 21.1%, respectively. Genotype data for both variants in control and cleft groups follow the Hardy Weinberg Equilibrium. Between cases with NSCLP and controls, the two SNPs showed no differences in frequencies of the genotypes or alleles. The pairwise linkage disequilibrium (LD) values (D’=1 and r2=0.027) between V2741 and rs642961 revealed that these two SNPs are not in strong LD. Haplotype G-T showed a significantly reduced risk for oral clefts (p<0.001) and haplotype A-T increased the risk for oral clefts (p=0.043). Gene-gene interaction showed that the higher risk group contains more GG-CC combination of cases that the controls, but this model was not significantly associated with cleft status (p=0.136) Conclusion: In conclusion, while IRF6 is strongly associated in other populations, this study demonstrated that variants in IRF6 may play a role in NSCLP in a South Indian population, but other genes are expected to play a role in this population as well.

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Development and Application of a Novel Patient-Reported Outcome Measure on QoL and Facial Aesthetics—A Study on South Indian Population

The Cleft Palate-Craniofacial Journal ◽

10.1177/1055665619852571 ◽

2019 ◽

Vol 56 (10) ◽

pp. 1340-1352

Author(s):

Akash Menon ◽

Shalini Krishnan ◽

Vikram Shetty

Keyword(s):

Young Adult ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Local Population ◽

Patient Reported Outcome ◽

Adult Patients ◽

Comprehensive Treatment ◽

South Indian Population ◽

South Indian ◽

Patient Reported

Background: The goal of cleft therapy has progressed from simply correcting the deformity to uplifting the patient’s quality of life (QoL). At the end of comprehensive treatment, a patient with cleft lip and palate (CLP) should report with satisfactory QoL scores in all domains such as aesthetics, speech, function, and psychology. Objective: To develop and validate a novel, disease-specific questionnaire designed in 2 regional languages to assess the QoL in young adult patients with CLP of South India following comprehensive treatment. Methods: A preliminary questionnaire was created from the literature review and patient interviews, considering regional sociodemographic conditions. The questionnaire was then validated by subject experts and pilot tested. The resultant tool was implemented on patients at treatment completion. Data collected were assimilated for statistical evaluation. Results: The questionnaire was deemed reliable (Cronbach α = .854 and test–retest reliability, κ = 0.8) and was administered to 100 young adult patients with CLP (mean age: 22 years). A large majority (83%) of the population felt more confident about themselves, with positive responses to familial relations, social interaction, and self-image. About 25% of the patients faced problems with speech regularly, while a majority of patients did not face problems with chewing and swallowing. Nearly 60% of patients were fully satisfied with their facial appearance, while others had concerns about their lip and nose aesthetics. The results were descriptive of the local population. Conclusions: Most patients achieved satisfactory QoL in all domains following comprehensive multispeciality therapy. The novel tool is simple, reliable, and can be adapted to homogenous population groups.

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A Normative Observational Study of the Relationship of the Philtral Ridges to the Columellar Base in South-Indian Population and its Significance on Cleft Lip Repair

Indian Journal of Plastic Surgery ◽

10.1055/s-0041-1734571 ◽

2021 ◽

Author(s):

Deyonna Deepthi Fernandes ◽

Syed Altaf Hussain

Keyword(s):

Cleft Lip ◽

Indian Population ◽

South Indian Population ◽

Healthy Children ◽

Upper Lip ◽

Indian Children ◽

South Indian ◽

Cleft Lip Repair ◽

Relationship Of ◽

The Relationship

Abstract Introduction The philtral ridges form a prominent visual landmark in the upper lip. An aesthetically pleasing cleft lip repair should restore this preferably without any scars cutting across it. Although there are several scientific publications on morphology of this structure and its variations, very few studies on the Indian population have been published. Aim To study the morphology of the philtral ridges and their relationship to the columellar base in normal Indian children and its significance in cleft lip repair. Methods 115 normal healthy children from southern India aged between one and 12 years were studied based on direct observation of the relationship of the superior end of the philtral ridge to the columellar base and nasal sill. In type A, the philtral ridge terminates at the nasal sill just lateral to the columellar base, and in type B, it either reaches or fades before reaching the columellar base. All observations were performed by the first author by examining standardized two-dimensional (2D) photographs of the upper lip-nose complex. Results In this study, 74% of the subjects had the philtral column extending lateral to the columellar base. Conclusion These finding assume a significance since, in a substantial proportion of the studied population, techniques of cleft lip repair such as the rotation advancement method, place a scar that crosses the upper third of the philtral ridge which may be undesirable.

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