MSX 1 gene variant and non-syndromic clefting: association or rejection?

CONTEXT: Non-syndromic cleft lip/palate (NSCL/P) is a congenital anomaly with significant medical, psychological and social ramifications. There is sufficient evidence to hypothesize that locus for this condition can be identified by candidate genes. AIMS: The aim of this study is to amplify the chosen region (799 G >T) of MSX 1 gene, investigate the degree of association and perform a mutation research from Raichur cleft lip and palate patient sample. SETTINGS AND DESIGN: Case history and clinical examination of the patient were recorded to rule. Written consent was obtained from patients and controls for in vivo study. STUDY WAS DESIGNED IN FOUR STEPS AS FOLLOWS: a. Collection of a blood sample; b. Genomic deoxyribonucleic acid (DNA) extraction; c. Polymerase chain reaction (PCR); d. Restriction fragment length polymorphism (RFLP). MATERIALS AND METHODS: Blood samples were collected from 50 subjects having NSCL/P and 50 controls. Genomic DNA was extracted, PCR and RFLP was performed for digestion products that were evaluated. STATISTICAL ANALYSIS: Chi-square test with P value at 95% confidence intervals. RESULTS: The results showed a positive correlation between MSX 1 799 G >T gene variant and NSCL/P patients in Raichur patients. CONCLUSIONS: From a genetically diverse etiology MSX 1 799 G >T gene variant may be a good screening marker for NSCL/P in Raichur patients.

Cephalometric evaluation of oropharyngeal airway dimension changes in pre- and postadenoidectomy cases.

AIM: The aim is to compare and evaluate the airway dimension changes, adenoidal nasopharyngeal ratio (ANR), airway area and airway percentage in patients in pre- and postadenoidectomy with normal individuals. MATERIALS AND METHODS: After obtaining informed consent, a sample of 15 patients (eight males and seven females) of 7 to 12 years were selected for adenoidectomy by an otolaryngologist, lateral cephalograms were taken in natural head position before adenoidectomy and after 1 month postadenoidectomy. Statastical analysis was done to evaluate the results using Statastical Package for Social Sciences. Results showed airway (P1, P2, P3, P4), airway percentage, airway area showed significant increase (p < 0.0001), whereas ANR showed significant reduction after 1 month postadenoidectomy. CONCLUSION: One month postadenoidectomy showed increased airway area, airway percentage and reduced ANR. CLINICAL SIGNIFICANCE: Obstructive mouth breathing due to adenoids in growing children can cause alteration in craniofacial morphology leading to adenoid facies, adenoidectomy procedure helps in alleviating the obstruction and facilitates the normal growth of craniofacial complex.