80 research outputs found

    Genital ambiguity: a cytogenetic evaluation of gender

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    Background: Genital ambiguity is a complex genetic disorder of sexual differentiation into male or female. The purpose of the present study is to correlate the sex of rearing with the genetic sex and to find out the prevalence of chromosomal anomalies in patients with ambiguous genitalia. The findings can help in proper diagnosis, genetic counselling, and the reassignment of sex, if necessary.  Methods: In this cross-sectional study, 22 patients from north Kerala, ranging in age from 17 days to 17 years, were included. All cases were subjected to the following: a detailed history, physical examination, evaluation of clinical data, and cytogenetic analysis. Based on the standard protocol, peripheral blood lymphocyte culture was done. Chromosomal analysis was carried out with the help of an automated karyotyping system after G-banding of chromosomes.Results: Out of the 22 patients with ambiguous genitalia, 12 patients were genetic females with karyotype 46, XX, and nine patients were genetic males with 46, XY karyotype. One was a rare variant of Klinefelter syndrome with karyotype 49, XXXXY. The most common diagnosis was congenital adrenal hyperplasia, followed by partial androgen insensitivity syndrome. Discrepancies between genetic sex and sex of rearing were noted in 27% of the cases.Conclusions: This study unfolds the variable etiology of ambiguous genitalia and emphasizes the importance of karyotyping in diagnosis, proper assignment of the sex, and appropriate management of patients with genital ambiguity.

    Magnetoelectric coupling in strained strontium titanate and Metglas based magnetoelectric trilayer

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    Direct magneto electric coupling is observed with a magnetoelectric coupling coefficient (MECC) of 806 mV cm−1 Oe−1 at 750 Hz in strontium titanate (STO) - Metglas - strontium titanate (STO-Metglas-STO) trilayer thin films with a total thickness of 600 nm. The piezoelectricity in the strained STO layer, which is otherwise a paraelectric material, enabled the sandwiched magneto electric structure to exhibit a fair sub resonant magneto electric coupling. Theoretical models proposed by Bichurin et al. and Hasanyan et al. are employed to calculate the values of MECC at sub resonant condition for the system, which is noted as 853 mV cm−1 Oe−1. The frequency dependence of MECC coefficient is also calculated and the resonance frequency is estimated as 706 Hz.publishe

    Lament as Transitional Justice

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    Works of human rights literature help to ground the formal rights system in an informal rights ethos. Writers have developed four major modes of human rights literature: protest, testimony, lament, and laughter. Through interpretations of poetry in Carolyn Forché’s anthology, Against Forgetting, and novels from Rwanda, the United States, and Bosnia, I focus on the mode of lament, the literature of mourning. Lament is a social and ritualized form, the purposes of which are congruent with the aims of transitional justice institutions. Both laments and truth commissions employ grieving narratives to help survivors of human rights trauma bequeath to the ghosts of the past the justice of a monument while renewing the survivors’ capacity for rebuilding civil society in the future. Human rights scholars need a broader, extra-juridical meaning for “transitional justice” if we hope to capture its power

    Genome-Wide Identification, Characterization, and Expression Analysis of Small RNA Biogenesis Purveyors Reveal Their Role in Regulation of Biotic Stress Responses in Three Legume Crops

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    Biotic stress in legume crops is one of the major threats to crop yield and productivity. Being sessile organisms, plants have evolved a myriad of mechanisms to combat different stresses imposed on them. One such mechanism, deciphered in the last decade, is small RNA (sRNA) mediated defense in plants. Small RNAs (sRNAs) have emerged as one of the major players in gene expression regulation in plants during developmental stages and under stress conditions. They are known to act both at transcriptional and post-transcriptional levels. Dicer-like (DCL), Argonaute (AGO), and RNA dependent RNA polymerase (RDR) constitute the major components of sRNA biogenesis machinery and are known to play a significant role in combating biotic and abiotic stresses. This study is, therefore, focused on identification and characterization of sRNA biogenesis proteins in three important legume crops, namely chickpea, pigeonpea, and groundnut. Phylogenetic analysis of these proteins between legume species classified them into distinct clades and suggests the evolutionary conservation of these genes across the members of Papillionidoids subfamily. Variable expression of sRNA biogenesis genes in response to the biotic stresses among the three legumes indicate the possible existence of specialized regulatory mechanisms in different legumes. This is the first ever study to understand the role of sRNA biogenesis genes in response to pathogen attacks in the studied legumes

    Genomics-assisted breeding for boosting crop improvement in pigeonpea (Cajanus cajan)

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    Pigeonpea is an important pulse crop grown predominantly in the tropical and sub-tropical regions of the world. Although pigeonpea growing area has considerably increased, yield has remained stagnant for the last six decades mainly due to the exposure of the crop to various biotic and abiotic constraints. In addition, low level of genetic variability and limited genomic resources have been serious impediments to pigeonpea crop improvement through modern breeding approaches. In recent years, however, due to the availability of next generation sequencing and high-throughput genotyping technologies, the scenario has changed tremendously. The reduced sequencing costs resulting in the decoding of the pigeonpea genome has led to the development of various genomic resources including molecular markers, transcript sequences and comprehensive genetic maps. Mapping of some important traits including resistance to Fusarium wilt and sterility mosaic disease, fertility restoration, determinacy with other agronomically important traits have paved the way for applying genomics-assisted breeding (GAB) through marker assisted selection as well as genomic selection (GS). This would accelerate the development and improvement of both varieties and hybrids in pigeonpea. Particularly for hybrid breeding programme, mitochondrial genomes of cytoplasmic male sterile (CMS) lines, maintainers and hybrids have been sequenced to identify genes responsible for cytoplasmic male sterility. Furthermore, several diagnostic molecular markers have been developed to assess the purity of commercial hybrids. In summary, pigeonpea has become a genomic resources-rich crop and efforts have already been initiated to integrate these resources in pigeonpea breeding

    Genetic Analysis of M5 Generation of Gamma Irradiated Red Rice (Oryza sativa L.) Mutant lines

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    In rice, induced mutations play a significant role in development of semi dwarf and high yielding variants. The genetic variability induced by four Gamma rays treatments was studied in traditional red rice variety Kajejaya in Randomized complete block design with two replications during Kharif 2021. Analysis of variance documented Gamma rays treatment brought significant variability and exhibited a wide range of values for all traits. Six superior mutants(T35-L-06, T35-L-17, T35-L-15, T45-L-07 T45-L-13 and T45-L-06) exhibited more number of productive tillers/plant, panicle length, number of filled grains/panicle, high test weight and higher grain yield/plant and T45-L-13, T45-L-06 and T35-L-15 mutants took lesser days to mature(114,117.5 and 118 days) and exhibited reduced plant height(84, 80 and 72cm) compared to untreated parent check. Induced mutations were effective in creating variability in plant height and maturity duration along with increased mean of reproductive components at higher doses (35kR and 45kR) as compared to lower doses(15kR and 25kR)
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