Political Prioritization for Digital Health and Health Equity Through Global Health Diplomacy

[Introduction] We have found the article Digital health and health equity: How digital health can address healthcare disparities and improve access to quality care in Africa published in the recent issue to be very relevant and interesting.¹ Qoseem et al have highlighted that there is a great need for continuous advocacy for strengthening the health systems through telehealth promotion and increasing access to healthcare services to achieve health equity

In situ origin of deep rooting lineages of mitochondrial Macrohaplogroup 'M' in India

BACKGROUND: Macrohaplogroups 'M' and 'N' have evolved almost in parallel from a founder haplogroup L3. Macrohaplogroup N in India has already been defined in previous studies and recently the macrohaplogroup M among the Indian populations has been characterized. In this study, we attempted to reconstruct and re-evaluate the phylogeny of Macrohaplogroup M, which harbors more than 60% of the Indian mtDNA lineage, and to shed light on the origin of its deep rooting haplogroups. RESULTS: Using 11 whole mtDNA and 2231 partial coding sequence of Indian M lineage selected from 8670 HVS1 sequences across India, we have reconstructed the tree including Andamanese-specific lineage M31 and calculated the time depth of all the nodes. We defined one novel haplogroup M41, and revised the classification of haplogroups M3, M18, and M31. CONCLUSION: Our result indicates that the Indian mtDNA pool consists of several deep rooting lineages of macrohaplogroup 'M' suggesting in-situ origin of these haplogroups in South Asia, most likely in the India. These deep rooting lineages are not language specific and spread over all the language groups in India. Moreover, our reanalysis of the Andamanese-specific lineage M31 suggests population specific two clear-cut subclades (M31a1 and M31a2). Onge and Jarwa share M31a1 branch while M31a2 clade is present in only Great Andamanese individuals. Overall our study supported the one wave, rapid dispersal theory of modern humans along the Asian coast

Molecular genetic perspectives on the origin of the Lyngngam tribe of Meghalaya, India

Meghalaya, one of the Northeast Indian states, is inhabited by two major tribal clusters, Khasi and Garo. The disputed origin of the Lyngngam tribe of Meghalaya is a result of their geographic distribution, which is sandwiched between that of the above two major tribal clusters. Our earlier analysis of ethnohistoric, linguistic and demographic data suggested the neighbouring Khasi and Garo as the putative parental population(s) of Lyngngam. In this paper, we have investigated the Lyngngam, Garo and all the 7 subtribes of Khasi of Meghalaya using molecular genetic markers-autosomal, Y-chromosome and mtDNA-to explore the possible origin of the Lyngngam tribe. We obtained admixture estimates for Lyngngam versus the putative parental populations. While autosomal STRs and mtDNA results clearly suggest Khasi origin of the Lyngngam, Y-STR distances show greater proximity of Lyngngam to the Garo. Further, the comparative analysis of the Y-Chromosome and mtDNA haplogroup data on relevant Austro-Asiatic and Tibeto-Burman populations from South and Southeast Asia, published by us earlier, clearly exclude the possibility of Lyngngam origin from outside Meghalaya. The molecular genetic evidence in conjunction with the linguistic, demographic and ethno-historic information clearly suggests Khasi origin of the Lyngngam tribe

Genetic affinities of the Jewish populations of India

Due to the lack of written records or inscription, the origin and affiliation of Indian Jewish populations with other world populations remain contentious. Previous genetic studies have found evidence for a minor shared ancestry of Indian Jewish with Middle Eastern (Jewish) populations. However, these studies (relied on limited individuals), haven’t explored the detailed temporal and spatial admixture process of Indian Jewish populations with the local Indian populations. Here, using large sample size with combination of high resolution biparental (autosomal) and uniparental markers (Y chromosome and mitochondrial DNA), we reconstructed genetic history of Indian Jewish by investigating the patterns of genetic diversity. Consistent with the previous observations, we detected minor Middle Eastern specific ancestry component among Indian Jewish communities, but virtually negligible in their local neighbouring Indian populations. The temporal test of admixture suggested that the first admixture of migrant Jewish populations from Middle East to South India (Cochin) occurred during fifth century. Overall, we concluded that the Jewish migration and admixture in India left a record in their genomes, which can link them to the ‘Jewish Diaspora’

Sperm mitochondrial mutations as a cause of low sperm motility

We report the unique case of a 28-year-old man who, in spite of having a varicocele and a sperm concentration of 5 million/mL, of which 10% were motile and 20% had normal forms (oligoasthenoteratozoospermia [OAT]), was fertile. This was confirmed by paternity testing using 16 autosomal and 6 Y-chromosomal short tandem repeat (STR) loci. An analysis of mitochondrial genes that included cytochrome oxidase I (COI), cytochrome oxidase II (COII), adenosine triphosphate synthase6 (ATPase6), ATPase8, transfer ribonucleic acid (tRNA) serine I, tRNA lysine, and NADH dehydrogenase3 (ND3) revealed, for the first time, 9 missense and 27 silent mutations in the sperm's mitochondrial DNA (mtDNA) but not in the DNA from the blood cells. There was a 2-nucleotide deletion in the mitochondrial COII genes, introducing a stop codon, which might be responsible for low sperm motility

Genetic affinities among the lower castes and tribal groups of India: inference from Y chromosome and mitochondrial DNA

BACKGROUND: India is a country with enormous social and cultural diversity due to its positioning on the crossroads of many historic and pre-historic human migrations. The hierarchical caste system in the Hindu society dominates the social structure of the Indian populations. The origin of the caste system in India is a matter of debate with many linguists and anthropologists suggesting that it began with the arrival of Indo-European speakers from Central Asia about 3500 years ago. Previous genetic studies based on Indian populations failed to achieve a consensus in this regard. We analysed the Y-chromosome and mitochondrial DNA of three tribal populations of southern India, compared the results with available data from the Indian subcontinent and tried to reconstruct the evolutionary history of Indian caste and tribal populations. RESULTS: No significant difference was observed in the mitochondrial DNA between Indian tribal and caste populations, except for the presence of a higher frequency of west Eurasian-specific haplogroups in the higher castes, mostly in the north western part of India. On the other hand, the study of the Indian Y lineages revealed distinct distribution patterns among caste and tribal populations. The paternal lineages of Indian lower castes showed significantly closer affinity to the tribal populations than to the upper castes. The frequencies of deep-rooted Y haplogroups such as M89, M52, and M95 were higher in the lower castes and tribes, compared to the upper castes. CONCLUSION: The present study suggests that the vast majority (>98%) of the Indian maternal gene pool, consisting of Indio-European and Dravidian speakers, is genetically more or less uniform. Invasions after the late Pleistocene settlement might have been mostly male-mediated. However, Y-SNP data provides compelling genetic evidence for a tribal origin of the lower caste populations in the subcontinent. Lower caste groups might have originated with the hierarchical divisions that arose within the tribal groups with the spread of Neolithic agriculturalists, much earlier than the arrival of Aryan speakers. The Indo-Europeans established themselves as upper castes among this already developed caste-like class structure within the tribes

CrossShade: Shading Concept Sketches Using Cross-Section Curves

International audienceWe facilitate the creation of 3D-looking shaded production drawings from concept sketches. The key to our approach is a class of commonly used construction curves known as cross-sections, that function as an aid to both sketch creation and viewer understanding of the depicted 3D shape. In particular, intersections of these curves, or cross-hairs, convey valuable 3D information, that viewers compose into a mental model of the overall sketch. We use the artist-drawn cross-sections to automatically infer the 3D normals across the sketch, enabling 3D-like rendering. The technical contribution of our work is twofold. First, we distill artistic guidelines for drawing cross-sections and insights from perception literature to introduce an explicit mathematical formulation of the relationships between cross-section curves and the ge- ometry they aim to convey. We then use these relationships to develop an algorithm for estimating a normal field from cross-section curve networks and other curves present in concept sketches. We validate our formulation and algorithm through a user study and a ground truth normal comparison. As demonstrated by the examples throughout the paper, these contributions enable us to shade a wide range of concept sketches with a variety of rendering styles

Y chromosome deletions in azoospermic men in India

Genetic factors cause about 10% of male infertility. Azoospermia factors (AZFa, AZFb, AZFc) are considered to be the most important for spermatogenesis. We therefore made an attempt to evaluate the genetic cause of azoospermia, Y chromosome deletion in particular, in Indian men. We have analyzed a total of 570 men, including 340 azoospermic men and 230 normal control subjects. DNA samples were initially screened with 30 sequence-tagged site (STS) markers representing AZF regions (AZFa, AZFb, AZFc). Samples, with deletion in the above regions were mapped by STS walking. Further, the deletions were confirmed by Southern hybridization using the probes from both euchromatic and heterochromatic regions. Of the total 340 azoospermic men analyzed, 29 individuals (8.5%) showed Y chromosome deletion, of which deletion in AZFc region was the most common (82.8%) followed by AZFb (55.2%) and AZFa (24.1%). Microdeletions were observed in AZFa, whereas macrodeletions were observed in AZFb and AZFc regions. Deletion of heterochromatic and azoospermic regions was detected in 20.7% of the azoospermic men. In 7 azoospermic men, deletion was found in more than 8.0 Mb spanning AZFb and AZFc regions. Sequence analysis at the break points on the Y chromosome revealed the presence of L1, ERV, and other retroviral repeat elements. We also identified a 240-kb region consisting of 125 bp tandem repeats predominantly comprised of ERV elements in the AZFb region. Histological study of the testicular tissue of the azoospermic men, who showed Y chromosome deletion, revealed complete absence of germ cells and presence of only Sertoli cells

Assessing speech at three years of age in the cleft palate population: A scoping review of assessment practices

Background. There is no consensus in the UK regarding the types of speech samples or parameters of speech that should be assessed at 3 years of age in children with cleft palate ± cleft lip (CP±L), despite cleft units routinely assessing speech at this age. The standardization of assessment practices would facilitate comparisons of outcomes across UK cleft units; earlier identification of speech impairments—which could support more timely treatments; and more reliable recording of therapy impacts and surgical interventions. Aims. To explore assessment practices used to assess speech in 3‐year‐old children with CP±L, including speech parameters, methods of assessment and the nature of the speech sample used. Methods & Procedures. A broad examination of the literature was undertaken through the use of a scoping review conducted in accordance with Joanna Briggs Institute guidelines. Search terms were generated from a preliminary search and then used in the main search (Medline, CINAHL, Embase, AMED and PsycINFO). Main Contribution. A combination of approaches (medical, linguistic, developmental and functional) is required to assess CP±L speech at age 3. A developmental approach is recommended at this age, considering the complexity of speech profiles at age 3, in which typically developing speech processes may occur alongside cleft speech characteristics. A combined measure for both nasal emission and turbulence, and an overall measure for velopharyngeal function for speech, show potential for assessment at this age. Categorical ordinal scales are frequently used; the use of continuous scales has yet to be fully explored at age 3. Although single‐word assessments, including a subset of words developed for cross‐linguistic comparisons, are frequently used, more than one type of speech sample may be needed to assess speech at this age validly. The lack of consensus regarding speech samples highlights a need for further research into the types of speech samples 3‐year‐olds can complete; the impact of incomplete speech samples on outcome measures (particularly relevant at this age when children may be less able to complete a full sample); the impact of different speech samples on the validity of assessments; and the reliability of listener judgements. Conclusions & Implications. Whilst a medical model and linguistic approaches are often central in assessments of age‐3 cleft speech, this review highlights the importance of developmental and functional approaches to assessment. Cross‐linguistic single‐word assessments show potential, and would facilitate the comparison of UK speech outcomes with other countries. Further research should explore the impact of different speech samples and rating scales on assessment validity and listener reliability

Role of Progesterone Receptor Polymorphisms in the Recurrent Spontaneous Abortions: Indian Case

Background: We attempt to ascertain if the 3 linked single nucleotide polymorphisms (SNPs) of the Progesterone Recepto