Clinical applications and implications of common and founder mutations in Indian subpopulations.

South Asian Indians represent a sixth of the world's population and are a racially, geographically, and genetically diverse people. Their unique anthropological structure, prevailing caste system, and ancient religious practices have all impacted the genetic composition of most of the current-day Indian population. With the evolving socio-religious and economic activities of the subsects and castes, endogamous and consanguineous marriages became a commonplace. Consequently, the frequency of founder mutations and the burden of heritable genetic disorders rose significantly. Specifically, the incidence of certain autosomal-recessive disorders is relatively high in select Indian subpopulations and communities that share common recent ancestry. Although today clinical genetics and molecular diagnostic services are making inroads in India, the high costs associated with the technology and the tests often keep patients from an exact molecular diagnosis, making more customized and tailored tests, such as those interrogating the most common and founder mutations or those that cater to select sects within the population, highly attractive. These tests offer a quick first-hand affordable diagnostic and carrier screening tool. Here, we provide a comprehensive catalog of known common mutations and founder mutations in the Indian population and discuss them from a molecular, clinical, and historical perspective.

Comparison of cuffed, uncuffed tracheal tubes and laryngeal mask airways in low flow pressure controlled ventilation in children.

BACKGROUND: The use of low flow circle systems necessitates a 'leak free' breathing system which is commonly achieved by using a cuffed tracheal tube (TT). We hypothesized that low flow circle system anesthesia can equally effectively be achieved by using the LMA in pediatric anesthesia. METHODS: Following local ethics committee approval we randomly recruited 45 patients scheduled for elective surgery and requiring mechanical ventilation into three groups (cuffed TT, uncuffed TT and LMA group, n = 15). The size of the TT was determined by means of the formula (age/4) + 4.5 for uncuffed and (age/4) + 4 for cuffed TT whereas the size of the LMA size was dependent on weight. Following induction of anesthesia and muscle paralysis patients were ventilated with pressure controlled ventilation through a pediatric circle system and the lowest fresh gas flow (FGF) determined. RESULTS: The FGF achieved were (median and range) 0.20 (0.2-0.25) l.min(-1) for the LMA group, 0.20 (0.2-0.4) l.min(-1) for the cuffed TT group and 1.15 (0.2-4.75) l.min(-1) for the uncuffed group. The differences between the LMA and cuffed TT compared with the uncuffed TT were significant (P < 0.0001 and P = 0.0002, respectively). The difference in FGF between LMA and cuffed TT was not significant. CONCLUSION: We conclude that pressure controlled ventilation using an LMA is an alternative to a cuffed TT during low flow circle system anesthesia in children. Low FGF is unlikely to be achieved consistently using an uncuffed TT because of a substantial leak.