Population dynamics and genetic isolation in the Central Himalayan region: insights from Sikkim population, India.

India's rich diversity encompasses individuals from varied geographical, cultural, and ethnic backgrounds. In the field of population genetics, comprehending the genetic diversity across distinct populations plays a crucial role. This study presents significant findings from genetic data obtained from the Sikkimese population of India. Autosomal markers were crucial for evaluating forensic parameters, with a combined paternity index of 1 × 109. Notably, Penta E emerged as a distinguishing marker for individual identification in the Sikkim population. Fst genetic distance values revealed insights into genetic isolation among different groups, enhancing our understanding of population dynamics in the central Himalayan region. The NJ-based phylogenetic tree highlighted close genetic relationships, of the Sikkim population with the Nepalese population surrounding neighbouring Himalayan populations providing glimpses into common ancestry. In summary, this study contributes valuable data to population genetics and underscores the importance of genetic variation in comprehending population dynamics and forensic applications.

Comparative evaluation of different human dental tissues and alveolar bone for DNA quantity and quality for forensic investigation.

In this study, the efficacy of dental tissues (cementum, dentine and pulp) and alveolar bone as a potential source of DNA was tested in terms of the quality and quantity using nuclear and mitochondrial markers for forensic investigation.This study found dentine as the best source of DNA with only 5.36% imbalanced (PHR<0.7) heterozygous loci. Pulp showed the highest quantity of DNA but exhibited 22.3% imbalanced (PHR<0.7) heterozygous loci. Cementum with highest (46.67%) heterozygote imbalance proved to be the last choice as a source of DNA. Alveolar bone exhibited the second-highest total yield of DNA/mg of tissue. All Global Filer™ STR loci were amplified in 70% samples of fresh alveolar bone whereas for 30% samples, only partial profile was generated along with successful sex determination. All the dental tissues and alveolar bone samples amplified non STR markers (D-loop, Cytochrome Oxidase I, SRY, AMEL). Of the alveolar bones from archival samples, one sample exhibited full STR profile whereas other alveolar bone samples gave partial profiles. This study substantiates alveolar bone as an alternate source of nuclear and mitochondrial DNA.

Key genetic and forensic attributes of Uttarakhand population of India.

The present study aimed to investigate the genetic and forensic attributes of Uttarakhand population based on 20 autosomal STR loci implemented in PowerPlex® 21 System. Results unveiled 219 alleles ranging from 6 (TH01, TPOX) to 20 (Penta E). Forensic analysis revealed locus Penta E as the most polymorphic and discriminative loci, whereas genetic analysis indicated presence of higher heterozygosity within population. Phylogenetic analysis indicated higher genetic affinity of Uttarakhand population with the neighbouring Himachal Pradesh population. Overall, the study indicates that the PowerPlex® 21 System is suitable for genetic and forensic analysis in Uttarakhand population.

Genetic evidence of shared ancestry among diverse ethno-linguistic human populations of Himachal Pradesh.

In Indian montane system, human populations often exhibit an unparallel social organization where inter-caste marriages are still not common. This attribute affects the demography and population genetic structure of the resident populations. Further, human populations residing in the mountains in India are poorly studied for their genetic make-up and allele distribution patterns. In the present study, we genotyped 594 unrelated individuals using PowerPlex® 21 System (Promega, USA) from eight different populations belonging to 12 districts of Himachal Pradesh which differed in ethnicity, language, geography and social organization. Altogether, we obtained 1415 alleles with a mean of 8.84 ± 0.26 alleles per locus and 0.80 mean observed heterozygosity. Locus Penta E showed the highest combined power of discrimination and was found most informative for forensic purposes. Interestingly, phylogenetic analysis grouped the populations of Rajputs, Scheduled castes and Brahmins into one cluster, which indicated a deep genetic admixture in the ancestral populations. This study documents the first-ever report on the population genetic assignment of various castes in Himachal Pradesh and unveils the facts of cryptic gene flow among the diverse castes in the northern hilly state of India. Our results showed a genetic relationship among the various ethno-linguistically diverse populations of India.

Investigating the genetic diversity and presence of forensically informative nucleotide sequences in Indian antelope (Antilope cervicapra) using multiple genes of the mitochondrial genome.

Indian antelope or Blackbuck (Antilope cervicapra) is one of the widely distributed endemic species in India among wild bovids and a majority of preferred habitats are in human-dominated landscapes. Poaching threats and habitat degradation are major factors for the decline in Blackbuck population from its distribution range. Till date, there is no detailed study using molecular techniques in India on Blackbuck, except a few studies entailing phylogenetic scenario based on inadequate sampling and DNA sequences restricted over limited geographic areas. In view of this, the present study is aimed to screen the Blackbuck samples from a large part of its distribution range and to investigate the genetic diversity as well as to identify the forensically informative nucleotide sequences (FINS) for species identification. We relied on multi-genes approach using three genes of mtDNA genome viz. Cytochrome Oxidase I, Cytochrome b and 16S rRNA and identified the FINS in the Blackbuck population along with conspecific sequences divergence and genetic diversity indices. In all three genes, we observed 8 to 17 haplotypes with the intra-species sequence divergence of 0.004-0.016. Inter-species sequence divergence with the other closely related species of the Blackbuck was 0.0225-0.033. We report the presence of FINS across three genes from 12 to 18 and found more informative nucleotide sites using Cytochrome Oxidase I genes compared to Cytochrome b and 16S rRNA gene. We did not observe the presence of geographic-specific FINS amongst Blackbuck population that can be used to assign individuals to geographic origin. Besides, in the phylogenetic tree, samples from different locations did not cluster into geographic-specific clade and exhibited mixed homology for these sequences. We suggest exploring the feasibility of using nuclear markers for population assignment.

Species dilemma of musk deer (Moschus spp) in India: molecular data on cytochrome c oxidase I suggests distinct genetic lineage in Uttarakhand compared to other Moschus species.

Musk deer are of high conservation priority owing to poaching pressure because of its musk pod. Representation of musk deer status using genetics is poorly documented in India, and it is not confirmed as to how many species of musk deer are present. We characterize for the first time, the genetic diversity of musk deer from Uttarakhand using Cytochrome Oxidase sub-unit (COI) gene (486 bp) and compared with the data available for other species. Results revealed the presence of six haplotypes in the Uttarakhand population amongst 17 sequences. Of these, 12 sequences shared the single haplotype. The intra-species sequences divergence was 0.003-0.017, whereas divergence with other species of musk deer was 0.071-0.081. Bayesian phylogenetic tree revealed that samples from Uttarakhand formed a separate clade with respect to other species of musk deer, whereas three species distributed in China clustered in the same clade and showed low sequences divergence, i.e., 0.002-0.061. Because of different ecomorph reported, we suggest using the barcoding based approach for inter and intra-species distinction and delineating species boundaries across the range for effective conservation. Besides, systematic classification, DNA barcoding would also help in dealing wildlife offence cases for disposal of the legal report in court.

Prognostic Value of Right Ventricular Strain Using Speckle-Tracking Echocardiography in Pulmonary Hypertension: A Systematic Review and Meta-analysis.

BACKGROUND: Right ventricular (RV) strain imaging using speckle-tracking echocardiography (STE) is a quantitative method of assessing RV systolic function that has shown prognostic utility in patients with pulmonary hypertension (PH). However, its prognostic value for a large and mixed PH population remains poorly defined. METHODS: A systematic review and meta-analysis was performed using the MedLine, Embase, and Cochrane Library databases for publications reporting the prognostic value of RV strain calculated using 2-dimensional STE in PH patients for the clinical end point of all-cause mortality. RESULTS: Screening of 687 publications yielded 10 that were included in the meta-analysis, representing data for 1001 PH patients, among whom 76% had pulmonary arterial hypertension with the remainder having a range of PH etiologies. The pooled free wall RV strain was -16.2% (95% confidence interval [CI], -14.3 to -18.1; I2 = 94.1%; Q = 102.8; P < 0.001), and the global (free wall and septum) RV strain was -14.5% (95% CI, -12.9 to -16; I2 = 84.9%; Q = 20; P < 0.001). There were 193 (18%) deaths (follow-up period range, 7.4 months to 4.2 years). From 6 publications, the pooled unadjusted hazard ratio for a binary cut off RV strain value for the primary outcome was 3.67 (95% CI, 2.82-4.77; P < 0.001; I2 = 0; Q = 1.8; P = 0.87), whereas the pooled unadjusted hazard ratio of RV strain as a continuous variable (per 1% change) was 1.14 (95% CI, 1.11-1.8; P < 0.001; I2 = 0; Q = 2.0; P = 0.85), and were superior to corresponding values for tricuspid annular systolic plane excursion (1.45; P = 0.071, hazard ratio = 1.00, and P = 0.82, respectively). CONCLUSIONS: RV strain performed using 2-dimensional STE provides important prognostic value within a large and mixed population of PH patients.

DNA barcoding as a tool for robust identification of cervids of India and its utility in wildlife forensics.

DNA barcoding has become a popular method of choice for identification of specimen based on molecular techniques. Here, we present preliminary findings on generating robust DNA barcode library of Cervids of India. The dataset comprising the DNA barcode library of seven deer species included in the genus Cervus, Axis and Muntiacus classified under family Cervidae. Mitochondrial Cytochrome C Oxidase subunit I gene of ca. 710 bp accepted widely as DNA barcode region, was used for generating species specific signature from 31 known samples of seven Indian deer species. Expectedly, the NJ tree clustered three genera i.e. Cervus, Axis and Muntiacus of Cervids of India into three clades. Further, the intra- and interspecies distances based on Kimura 2 parameter model also supported the results. The average intra- and interspecies sequence divergence were 0.011 (±0.09) and 0.65 (±0.14), respectively. The present study has exhibited that DNA barcoding has discriminating power to delineate boundaries among the closely related species. The data generated are of high importance to the law enforcement agencies in effective identification of species in wildlife offence cases. The similar approach can be utilized for generating DNA barcodes for other Indian mammals for making effective management and conservation action decisions.

Inferring the molecular affinity of Indian pangolin with extant Manidae species based on mitochondrial genes: a wildlife forensic perspective.

Pangolins are the world`s most trafficked mammalian species classified under family Manidae and face severe threat of extinction, largely due to the illicit trade of its parts and products, especially scales, in international markets. Pangolin scales are believed to be used in Traditional Chinese Medicines (TCM) and meat is used as delicacies in restaurants. Of the eight extant species of pangolin, morphological discrimination is easy but the situation becomes precarious once the scales and meat samples are seized and it is difficult to identify species based on morphology in such cases. However, wildlife DNA forensics has played an instrumental role in the identification of species from such type of materials. The present study investigated that three mitochondrial genes (Cyt b, 16S rRNA, and 12S rRNA) clearly showed the variation among seven extant pangolin species (Manis culionensis; possibly extinct), whereas, maximum variation was obtained in cytochrome b when compared to another two mitochondrial genes. The present study revealed that obtained SNPs based on short sequence length (Intervals) within the three mitochondrial genes will be helpful to design the short molecular marker and species-specific probe that is used in wildlife forensic for identifying pangolin species from the degraded sample. We also advocate using more than one molecular marker for species discrimination so as to minimize any false identification of the mammal's species reported in the trade. Furthermore, data generated from the study would help in strengthening the DNA database of Indian pangolin species.

Pragmatic perspective on conservation genetics and demographic history of the last surviving population of Kashmir red deer (Cervus elaphus hanglu) in India.

The hangul (Cervus elaphus hanglu) is of great conservation concern because it represents the easternmost and only hope for an Asiatic survivor of the red deer species in the Indian subcontinent. Despite the rigorous conservation efforts of the Department of Wildlife Protection in Jammu & Kashmir, the hangul population has experienced a severe decline in numbers and range contraction in the past few decades. The hangul population once abundant in the past has largely become confined to the Dachigam landscape, with a recent population estimate of 218 individuals. We investigated the genetic variability and demographic history of the hangul population and found that it has shown a relatively low diversity estimates when compared to other red deer populations of the world. Neutrality tests, which are used to evaluate demographic effects, did not support population expansion, and the multimodal pattern of mismatch distribution indicated that the hangul population is under demographic equilibrium. Furthermore, the hangul population did not exhibit any signature of bottleneck footprints in the past, and Coalescent Bayesian Skyline plot analysis revealed that the population had not experienced any dramatic changes in the effective population size over the last several thousand years. We observed a strong evidence of sub-structuring in the population, wherein the majority of individuals were assigned to different clusters in Bayesian cluster analysis. Population viability analysis demonstrated insignificant changes in the mean population size, with a positive growth rate projected for the next hundred years. We discuss the phylogenetic status of hangul for the first time among the other red deer subspecies of the world and strongly recommend to upgrade hangul conservation status under IUCN that should be discrete from the other red deer subspecies of the world to draw more conservation attention from national and international bodies.

A rare case of quadruple valve infective endocarditis of normal native valves - the advantage of TEE.

Quadruple valve infective endocarditis of apparently normal native valves is a relatively uncommon condition, reported particularly in the setting of intravenous drug use, structural heart disease and immunocompromised state, but its occurrence outside these settings is rare. Multiple valve endocarditis is caused by Staphylococcus aureus in the majority of cases. Although Enterococcus faecalis is a common cause of bacterial infective endocarditis overall, it is rarely reported to cause multiple valve involvement. The present case is one such rare report of a patient who had quadruple valve endocarditis of normal native valves, caused by E. faecalis. Compared to single valve endocarditis, multiple valve disease is associated more frequently with heart failure, perivalvular complications and need for heart surgery; hence, early recognition of the extent of disease and number of valves involved is crucial, as this in turn influences the management, risk of complications and outcomes. Transthoracic echocardiography is a widely used first-line tool in the imaging of infective endocarditis, but transesophageal echocardiography, which is more sensitive, should be used more frequently to assess the extent of involvement. Extensive valvular involvement alone does not preclude medical management, and surgical management should be considered only in those who do not respond to antimicrobials or in the case of hemodynamic compromise or mechanical complications.