E-Governance: An Approach towards Nation Development

ABSTRAC

Correction: Global Patterns in Human Mitochondrial DNA and Y-Chromosome Variation Caused by Spatial Instability of the Local Cultural Processes

Because of the widespread phenomenon of patrilocality, it is hypothesized that Y-chromosome variants tend to be more localized geographically than those of mitochondrial DNA ( mtDNA). Empirical evidence confirmatory to this hypothesis was subsequently provided among certain patrilocal and matrilocal groups of Thailand, which conforms to the isolation by distance mode of gene diffusion. However, we expect intuitively that the patterns of genetic variability may not be consistent with the above hypothesis among populations with different social norms governing the institution of marriage, particularly among those that adhere to strict endogamy rules. We test the universality of this hypothesis by analyzing Y-chromosome and mtDNA data in three different sets of Indian populations that follow endogamy rules to varying degrees. Our analysis of the Indian patrilocal and the matrilocal groups is not confirmatory to the sex- specific variation observed among the tribes of Thailand. Our results indicate spatial instability of the impact of different cultural processes on the genetic variability, resulting in the lack of universality of the hypothesized pattern of greater Y-chromosome variation when compared to that of mtDNA among the patrilocal populations

Kannabiran C: Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening. Invest Ophthalmol Vis Sci 2009

PURPOSE. To identify the disease-causing genes in families with autosomal recessive RP (ARRP). METHODS. Families were screened for homozygosity at candidate gene loci followed by screening of the selected gene for pathogenic mutations if homozygosity was present at a given locus. A total of 34 families were included, of which 24 were consanguineous. Twenty-three genes were selected for screening. The presence of homozygosity was assessed by genotyping flanking microsatellite markers at each locus in affected individuals. Mutations were detected by sequencing of coding regions of genes. Sequence changes were tested for presence in 100 or more unrelated normal control subjects and for cosegregation in family members. RESULTS. Homozygosity was detected at one or more loci in affected individuals of 10 of 34 families. Homozygous disease cosegregating sequence changes (two frame-shift, two missense, and one nonsense; four novel) were found in the TULP1, RLBP1, ABCA4, RPE65, and RP1 genes in 5 of 10 families. These changes were absent in 100 normal control subjects. In addition, several polymorphisms and novel variants were found. All the putative pathogenic changes were associated with severe forms of RP with onset in childhood. Associated macular degeneration was found in three families with mutations in TULP1, ABCA4, and RP1 genes. Retinitis pigmentosa (RP) is the most common clinical expression, but this condition represents a clinical manifestation of diverse genetic errors that are inherited as autosomal dominant, recessive, X-linked, digenic, or mitochondrial disorders. The manifestation and course of RP can show considerable variation between individuals, and onset of the disease can vary from childhood to adolescence or early adulthood. Initial symptoms include night blindness in the early stages coupled with decreased visual acuity and progressive loss of visual fields. Clinically, changes in the retina include pallor of the optic disc, attenuated vasculature, pigmentary deposits appearing as bony spicules, atrophy of retinal tissue and diminished electroretinographic responses. The prevalence of RP ranges from 1 in 5000 to 1 in 1000 in different parts of the world. 1-3 ARRP appears to be relatively more common than dominant or X-inked forms in patient populations. This study was designed to identify genes underlying ARRP in affected families. We screened 34 ARRP families for homozygosity at 23 loci for possible involvement in disease. The 23 loci belong to a subset of loci commonly involved in RP and related disorders or were candidates based on expression and function. Screening was done in two stages. First, we performed genotyping of microsatellite markers flanking each of the 23 genes to test for homozygosity at any of these loci among affected individuals. In the second stage, we sequenced coding regions of genes present at homozygous regions for pathogenic mutations. METHODS The study protocol was approved by the Institutional Review Board and adhered to the tenets of the Declaration of Helsinki. Probands with a family history suggestive of recessive RP were included in the study and available family members were enrolled. All subjects, both affected and unaffected, were clinically evaluated and informed consent was obtained. A total of 34 families with 2 or more affected individuals were recruited; 24 families were consanguineous and 10 were nonconsanguineous. Essential diagnostic criteria for inclusion included bilateral, diffuse, and widespread retinal pigment epithelial degeneration, arterial narrowing, commensurate visual field loss, and reduced amplitudes on electroretinogram (ERG) reduced to less than 25% of the maximum retinal response in normal individuals (normal amplitude of b-wave Ͼ350 V and a-wave Ͼ110 V) with evidence of rod and cone involvement. Other clinical signs that were supportive but not essential for diagnosis of RP included pigment migration including bonecorpuscular pigmentation, vitreous opacities and vitreous pigments, From th

Schematic Representation of Indian Population Structure Characterized by Movement of Spouses Only within but Not among the Endogamous Groups

<p>Each circle represents a population and its size represents the hierarchy. While the populations until the breeding isolates are all endogamous, the exogamous units refer to clans/lineages within a breeding isolate/population.</p

Haplotype Diversity in mtDNA (Green) and Y-STR (Pink) and Their Mean (Shaded Bar) in Five Dravidian and Five Austro-Asiatic Patrilocal and Five Austro-Asiatic Matrilocal Populations

<p>From left to right, the Dravidian patrilocal groups (mtDNA sample size and Y-STR sample size) are Akhutota (32, 21), Kapu (22,16), Panta (37, 21), Pokanati (59, 25), and Vanne (32, 23); the Austro-Asiatic matrilocal groups are Maram (72, 58), Khynriam (95, 82), Pnar (69, 40), Bhoi (34, 30), and WarKhasi (31, 23); the Austro-Asiatic patrilocal groups are Asur (30, 28), Bhumij (40, 39), Kharia (21, 13), Munda (23, 23), and Santhal (39, 38).</p

A deep learning-based COVID-19 automatic diagnostic framework using chest X-ray images

The lethal novel coronavirus disease 2019 (COVID-19) pandemic is affecting the health of the global population severely, and a huge number of people may have to be screened in the future. There is a need for effective and reliable systems that perform automatic detection and mass screening of COVID-19 as a quick alternative diagnostic option to control its spread. A robust deep learning-based system is proposed to detect the COVID-19 using chest X-ray images. Infected patient's chest X-ray images reveal numerous opacities (denser, confluent, and more profuse) in comparison to healthy lungs images which are used by a deep learning algorithm to generate a model to facilitate an accurate diagnostics for multi-class classification (COVID vs. normal vs. bacterial pneumonia vs. viral pneumonia) and binary classification (COVID-19 vs. non-COVID). COVID-19 positive images have been used for training and model performance assessment from several hospitals of India and also from countries like Australia, Belgium, Canada, China, Egypt, Germany, Iran, Israel, Italy, Korea, Spain, Taiwan, USA, and Vietnam. The data were divided into training, validation and test sets. The average test accuracy of 97.11 +/- 2.71% was achieved for multi-class (COVID vs. normal vs. pneumonia) and 99.81% for binary classification (COVID-19 vs. non-COVID). The proposed model performs rapid disease detection in 0.137 s per image in a system equipped with a GPU and can reduce the workload of radiologists by classifying thousands of images on a single click to generate a probabilistic report in real-time.(c) 2021 Nalecz Institute of Biocybernetics and Biomedical Engineering of the Polish Academy of Sciences. Published by Elsevier B.V. All rights reserved