3 research outputs found
Social impact assessment of construction of hill road (Ghatiabagarh-Lipulekh road of 76 km) on green field alignment in Dharchula, India
This paper aims to carry out the social impact assessment (SIA) due to the construction of 76 Km hill road at Dharchula district of Uttarakhand, India. Development of the hinterland hinges on the efficient road network. All-round development, safe travel, reduced vehicle operating cost, reduced fuel consumption, a faster journey are immediate benefits. The road will enhance comprehensive national connectivity. It has given connectivity to more than fifty villages and settlements. The road has increased the women’s participation in society, as per NSF method 23.9%, Battelle method 60% and Checklist method 40% respectively. . Local population’s access to science and technology has increased by 16 % as per NSF method and Battelle method whereas 40% as per Checklist method . Health related impact is 48.5% as per NSF method, 72% as Battelle method and 60 % as per Checklist method. The study analysed NSF method holistically defines outcome for each social impact parameter while the Checklist method was found to be subjective. Battelle method too has an inherent advantage of comparing social impact situation with and without project. The study substantiated the outcome of Battelle method and Checklist method have almost similar results, assessment scores being 15.8 and 16.05 respectively
A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome
BACKGROUND The Proteus syndrome is characterized by the overgrowth of skin, connective tissue, brain, and other tissues. It has been hypothesized that the syndrome is caused by somatic mosaicism for a mutation that is lethal in the nonmosaic state. METHODS We performed exome sequencing of DNA from biopsy samples obtained from patients with the Proteus syndrome and compared the resultant DNA sequences with those of unaffected tissues obtained from the same patients. We confirmed and extended an observed association, using a custom restriction-enzyme assay to analyze the DNA in 158 samples from 29 patients with the Proteus syndrome. We then assayed activation of the AKT protein in affected tissues, using phosphorylation-specific antibodies on Western blots. RESULTS Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G -> A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis. Tissues and cell lines from patients with the Proteus syndrome harbored admixtures of mutant alleles that ranged from 1% to approximately 50%. Mutant cell lines showed greater AKT phosphorylation than did control cell lines. A pair of single-cell clones that were established from the same starting culture and differed with respect to their mutation status had different levels of AKT phosphorylation. CONCLUSIONS The Proteus syndrome is caused by a somatic activating mutation in AKT1, proving the hypothesis of somatic mosaicism and implicating activation of the PI3K-AKT pathway in the characteristic clinical findings of overgrowth and tumor susceptibility in this disorder. (Funded by the Intramural Research Program of the National Human Genome Research Institute.