During the course of genome studies in a rural community in the South Indian state of Karnataka, DNA-based investigations and counselling for familial adenomatous polyposis (FAP) were requested via the community physician. The proposita died in 1940 and FAP had been clinically diagnosed in 2 of her 5 children, both deceased. DNA samples from 2 affected individuals in the third generation were screened for mutations in the APC gene, and a frame-shift mutation was identified in exon 15 with a common deletion at codon 1061. Predictive testing for the mutation was then organized on a voluntary basis. There were 11 positive tests, including confirmatory positives on 2 persons diagnosed by colonoscopy, and to date surgery has been successfully undertaken on 3 previously undiagnosed adults. The ongoing success of the study indicates that, with appropriate access to the facilities offered by collaborating centres, predictive testing is feasible for diseases such as FAP and could be of significant benefit to communities in economically less developed countries.
Background: Obstructive sleep apnea (OSA) is a condition resulting in disrupted sleep and excessive daytime sleepiness/somnolence (EDS) with demonstrable deficits in cognitive and psychomotor performance. Indian studies have shown the prevalence of 4.9–19.7% in males and 2.1–7.4% in females. Prevalence among military aviators is unknown. Materials and Methods: EDS was determined by employing Epworth Sleepiness Scale (ESS) among the 54 male aircrews in an airbase. The risk for OSA was also determined among these individuals using STOP-BANG questionnaire. Results and Discussion: It was found that none of the aircrews in the study group is found to have dangerously sleepy (DS). About 11.11% of the studied population were found to have EDS which is less than the prevalence rate in India as per a study conducted by the National Institute of Mental Health and Neuro Sciences on general population and the Western world (prevalence rate of 16.7%) as found by Gislason et al. OSA risk among the study population was (n = 9/54) 16.16%. The prevalence of OSA in India male is reported as 4.9–17.9%. Thus, percentage of aircrew showing the risk for OSA in this cross-sectional study is comparable with the general population in India. However, no correlation was found between the risk factors of OSA with ESS. The reasons for EDS could be attributed to factors such as personal lifestyle, sleeping habits, and poor work-rest schedules. It is interesting to note that none of the aircrew, who is positive for OSA risk, is showing EDS/DS. This further confirms that OSA risk individuals may not have EDS/DS and this could be a reason why, OSA largely remains underdiagnosed and untreated in clinical practice. Conclusion: This cross-sectional study has brought the conclusion that both EDS and risk for OSA coexists even in a fit and healthy population of aircrew.
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