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Clinical implications of chromosomal polymorphisms in congenital disorders
Alterations in the DNA sequence are generally seen in the general population at >1%, and these alterations can be deletions or insertions. Classically, chromosomal polymorphisms (CPMs) are alterations with no significant phenotypic distinctions. However, few studies have shown that the presence of CPM can lead to congenital disabilities, which can be fatal. These variants in the DNA can happen in the form of single nucleotide polymorphisms (SNPs). The human genome is considered full of SNPs, and they are responsible for causing pathological phenotypes and provide insight into pathogenesis, a therapeutic approach to the pathology. About 100 million SNPs are observed in humans for an average of 300 nucleotides. These polymorphisms are detected by using molecular techniques. These polymorphisms are not just restricted to the coding region. The CPMs are first recognized on the chromosomes through molecular techniques, followed by detection of the polymorphism. The CMPs are generally the SNPs, deletions/duplications, and presence of microsatellite DNAs. Here we have summarized the implications of CMPs in a few congenital disorders and the method of diagnosis. The Author(s), under exclusive license to Springer Nature Switzerland AG 2023. -
The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment
Inherited neurodegenerative pathology characterized by lower muscle tone and increasing spasticity in the lower limbs is termed hereditary spastic paraplegia (HSP). HSP is associated with changes in about 80 genes and their products involved in various biochemical pathways, such as lipid droplet formation, endoplasmic reticulum shaping, axon transport, endosome trafficking, and mitochondrial function. With the inheritance patterns of autosomal dominant, autosomal recessive, X-linked recessive, and mitochondrial inheritance, HSP is prevalent around the globe at a rate of 15 cases in every 100,000 individuals. Recent technology and medical interventions somewhat aid in recognizing and managing the malaise. However, HSP still lacks an appropriate and adequate therapeutic approach. Current therapies are based on the clinical manifestations observed in the patients, for example, smoothing the relaxant spastic muscle and physiotherapies. The limited clinical trial studies contribute to the absence of specific pharmaceuticals for HSPs. Our current work briefly explains the causative genes, epidemiology, underlying mechanism, and the management approach undertaken to date. We have also mentioned the latest approved drugs to summarise the available knowledge on therapeutic strategies for HSP. 2022 by the authors. -
Cytokine see-saw across pregnancy, its related complexities and consequences
During pregnancy, a woman's immune system adapts to the changing hormonal concentrations, causing immunologic transition. These immunologic changes are required for a full-term pregnancy, preserving the fetus' innate and adaptive immunity. Preterm labor, miscarriage, gestational diabetes mellitus, and pre-eclampsia are all caused by abnormal cytokine expression during pregnancy and childbirth. A disruption in the cytokine balance can lead to autoimmune diseases or microbiologic infections, or to autoimmune illness remission during pregnancy with postpartum recurrence. The cytokine treatments are essential and damaging to the developing fetus. The current review summarizes the known research on cytokine changes during pregnancy and their possible consequences for pregnant women. Studies suggest that customizing medication for each woman and her progesterone levels should be based on the cytokine profile of each pregnant woman. Immune cells and chemicals play an important function in development of the placenta and embryo. During pregnancy, T cells divide and move, and a careful balance between proinflammatory and anti-inflammatory cytokines is necessary. The present review focuses on the mother's endurance in generating fetal cells and the immunologic mechanism involved. 2022 International Federation of Gynecology and Obstetrics. -
Nutrition paves the way to environmental toxicants and influences fetal development during pregnancy
Nutrition plays a major role in the healthy pregnancy and development of the fetus. In addition, nutrition can expose humans to a wide range of potentially hazardous environmental constituents, such as organic pollutants and heavy metals from marine or agricultural food products while processing, producing, and packaging. Humans constantly face these constituents through air, water, soil, food, and domestic products. During pregnancy, the rate of cellular division and differentiation is higher; exposure to any of these environmental toxicants can lead to developmental defects as they cross the placental barrier and, in some cases, can harm the successive generation too, as some contaminants can act on the reproductive cells of the fetus (Diethylstilbestrol). Pregnant women are considered a vulnerable population to food contaminant exposure and require a proper dietary chart and conscious food choices. Food is a source of both essential nutrients and environmental toxicants. Here, we have researched the possible toxicants of the food industry and their influence on the fetus's in-utero development, along with the importance of dietary interventions and the need to balance a healthy diet to overcome the harms. The cumulative exposure to environmental toxicants can influence the mother's prenatal environment and affect the fetus's development. 2023 -
Customary complications and screening techniques of early pregnancy
Complications arising during pregnancy are one of the significant public health issues around the world. Being the critical aspect for the growth and development in every human's life, it is necessary to assess any pathological disturbance mainly concerning the well-being of the fetus and mother throughout pregnancy. Few women face health downline while pregnancy, whereas few faces before getting pregnant; both the conditions can lead to complications in maternal and fetal health. Usually, pregnancy-related complications disappear as soon as the baby is delivered or shortly after that. Few complications include premature delivery, abruption of the placenta, preeclampsia, and diabetes. At the same time, gestation and these complications reoccur in successive pregnancies at a higher rate. They can also make the women prone to lifelong medical complications such as metabolic diseases or cardiovascular disease later in life. Most of the complications are mild without progression, but it harms both the mother and baby when they progress. Hence, it is important to diagnose early the danger signs and provide antenatal care to elevate the chances of proper health in both the mother and infant throughout the pregnancy and afterwards. This chapter focuses on the complications faced in the early phase of pregnancies and the screening methods utilized to diagnose them early, along with long-term effects in mothers due to some complications. The Author(s), under exclusive license to Springer Nature Switzerland AG 2023. -
COVID-19 in pregnant women and children: Insights on clinical manifestations, complexities, and pathogenesis
Pregnancy changes the body's immune system to counteract the spectrum of infections, including COVID-19, which can pose complications. Pregnant women are less likely to contract COVID-19 infections than the general public. However, pregnant women are at slightly increased risk of becoming severely unwell if they do catch COVID-19, and congenital conditions in pregnant women may worsen the state of infection and lead to critical stages and even mortality. The possibility of vertical transmission has been reported in only a few cases of COVID-19; however, it was not noted in cases of SARS and MERS. Vaccination coverage in pregnant women remains a challenge. Children are the next suspected and vulnerable population to acquire infection after the first and second waves. Children are disproportionately infected compared with older populations, but the severity of infection is less compared to adults. This review highlights the complexities of COVID-19 in pregnant women and the underlying reasons why children tend to be comparatively less severely affected. Ethnicity, nutrition, lifestyle, and therapeutics influence the severity of infection in children. Low expression of angiotensin-converting enzyme 2 receptors, indigenous virus competence, and maternal immunity is the first-line defense for children against COVID-19. Habituating herbal medicines from childhood may help support a robust and defensive immune system to counteract novel antigens and encourage healthy generations. 2021 International Federation of Gynecology and Obstetrics -
A Bose horn antenna radio telescope (BHARAT) design for 21 cm hydrogen line experiments for radio astronomy teaching
We have designed a low-cost radio telescope system named the Bose Horn Antenna Radio Telescope (BHARAT) to detect the 21 cm hydrogen line emission from our Galaxy. The system is being used at the Radio Physics Laboratory (RPL) (Radio Physics Lab, IUCAA NCRA-TIFR, , ), Inter-University Centre for Astronomy and Astrophysics (IUCAA), India, for laboratory sessions and training students and teachers. It is also a part of the laboratory curriculum at several universities and colleges. Here, we present the design of a highly efficient, easy to build, and cost-effective dual-mode conical horn used as a radio telescope and describe the calibration procedure. We also present some model observation data acquired using the telescope for facilitating easy incorporation of this experiment in the laboratory curriculum of undergraduate or post-graduate programs. We have named the antenna after Acharya (teacher or an influential mentor) Jagadish Chandra Bose, honoring a pioneer in radio-wave science and an outstanding teacher, who inspired several world renowned scientists. 2022 Author(s). -
Leveraging AI And Blockchain for Secure Digital Right Management in Libraries
The urge to develop the Digital rights management systems that are well-established, protecting the intellectual property, and still facilitating the reasonable access to information is supported by the faster rate of digitization of library materials. The given paper investigates how Artificial Intelligence and Blockchain can be combined to support the safety, accountability, and effectiveness of Digital Rights Management (DRM) systems utilized in modern libraries. AI allows advanced content recognition, behavioral analytics, and authorization, the most important features of intelligent and dynamic rights enforcement. Conversely, Blockchain offers an immutable and decentralized historical document into which the administration of licensing agreements, property, and transactions can be documented and which will reduce the chances of illegal access and piracy. Smart contracts are issued in Blockchain platforms that allow libraries to provide license compliance with the administered copyright licensing, real-time auditing control of access, and numerous others. Licensing requirements can be forecasted, irregularities detected, and fair use policies recommended using automated algorithms formulated using content metadata and usage patterns. When these technologies are integrated, it forms a very accurate and trustworthy digital rights management (DRM) system, which is advantageous to the authors, libraries, and users. The study will present a model that has a conceptual framework aimed at showing what AI and Blockchain technology can become in library DRM systems. In the model design, the privacy of the data, data accuracy, and the ability of the system to expand and the legal issues are considered to be major concerns. Besides, the deliberation focuses on the complexity of the constituent parts as well as interoperability and technology ethics. The introduction of other new technologies leads to an unparalleled change in the way digital resources are organized, accessed, and secured in the library setting and introduces increasingly powerful and flexible information systems. The Research Publication. -
Efficiency Wage and Productivity in the Indian Microfinance Industry: A Panel Evidence
Enhanced productivity remains a crucial agenda for firms to attain cost and competitive advantages in the market. Hence, the main purpose of this study is to investigate the effects of efficiency wage (EW) on the productivity of microfinance institutions (MFIs) with respect to their dual objectives, namely, outreach (depth and breadth) and financial sustainability. Unbalanced panel data of 179 Indian MFIs were collected over the period 20102018 from the Microfinance Information Exchange (MIX) market platform (now obtainable from the World Bank catalogue). Under a static model setting (fixed effects model), the observed relationship between EW and MFIs productivity is mixed. On the one hand, EW exhibits a strong and statistically significant positive relationship with the breadth of outreach, even after considering various control variables and alternative proxies of EW. On the other hand, EW shows no positive influence on the MFIs depth of outreach; rather, it results in a mission drift of MFIs, with the poorest of the poor being neglected (weak and insignificant for proxy of EW). Concerning the financial sustainability of MFIs, EW exhibits a positive and statistically significant effect, except for the profitability dimension when an alternative proxy of EW is used. A two-step system generalized method of moments (GMM) performed to limit endogeneity problems also validates most of our findings. The outcomes of this study could help MFIs managers in designing appropriate financial packages to enhance MFIs productivity and subsequently attain the dual objective of outreach and sustainability. 2022 SAGE Publications. -
Ruralurban financial inclusion: Implications on the cost sustainability of microfinance lenders
Despite the higher demand for credit among the rural poor, many commercial banks and microfinance institutions (MFIs) are averse towards microfinancing activities in rural areas due to their high-cost implication compared to urban areas. Therefore, this study empirically investigates the effect of rural and urban financial inclusion on the cost sustainability of MFIs. To this end, a globally representative sample of 1729 MFIs' data covering the period 20082018 were analyzed. Contrary to the orthodox perception, our overall result revealed that lending in rural areas is more cost-efficient than in urban areas, even after considering various proxies and endogeneity issues. 2021 John Wiley & Sons, Ltd. -
The Content of Heavy Metals in Cigarettes and the Impact of Their Leachates on the Aquatic Ecosystem
Smoked cigarettes and butts are the most common kind of litter around the world. The buildup of these litters has badly polluted local water bodies and their compartments, and the cumulative effect of many cigarette butts scattered in a centralized location may pose a serious hazard to living species. To understand how heavy metals are leached out into the aquatic ecosystem, researchers must analyse the behavior of the materials that make up cigarettes. Using atomic absorption spectrometry, this study evaluated the content of several metals (such as Cd, Cu, Fe, Pb, Sn, Zn, and Hg) leached from various brands of unsmoked and smoked cigarettes and cigarette butts. The findings revealed that heavy metal is more prevalent in butte. These findings indicate that cigarette litter is a major source of metal contamination in the aquatic ecosystem and that apparent leaching may increase the risk of toxicity to aquatic organisms. 2022 by the authors. Licensee MDPI, Basel, Switzerland. -
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Currency Exchange Rate Prediction Using Multi-layer Perceptron
Financial forecasting is an estimate of a future financial outcome and this outcome is related to some kind of value. We can measure this outcome for a company to predict its future stock or to detect the viability of a human for the sanction of a loan. In all these cases, we want to estimate the future outcome based on historical data. Various methods have been developed lately, to make time series predictions. In this work, we have used Multi-layer perceptron algorithm to predict the Currency Exchange rate between US dollar and EURO. The training network has been compiled using TensorFlow. 2022, The Author(s), under exclusive license to Springer Nature Singapore Pte Ltd. -
Sign Language Recognizer Using HMMs
In our day to day lives, we come across especially abled people who perform their daily chores with the aid of motivation that they get from self-confidence. There are many with hearing impairment. Sign language is the most expressed and natural way for them to communicate. Some chains of restaurants have, in fact, recruited deaf servers providing them with employment opportunities. Therefore, automatic Sign language recognition has become the crux of vision research. This paper is based on a project that builds a system that can recognize words communicated using the American Sign Language (ASL). Having been provided with a preprocessed dataset of tracked hand and nose positions extracted from the video, the set of Hidden Markov Models are trained. Using a part of this dataset, identification of individual words from test sequences is done. It provides them with the ability to communicate better, opening up a lot of opportunities. 2021, The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Singapore Pte Ltd. -
Off balance sheet exposure performance analysis and risk measurment of Indian banks /
Archives of Business Research, Vol.4, Issue 1, pp.112-117, ISSN: 2054-7404. -
Under-pricing of IPOs in Indian capital market and determinants of under-pricing /
Archives of Business Research, Vol.5, Issue 1, ISSN: 2054-7404. -
Electrical transport and magnetoresistance studies on the magnetic moment compensated Mn2V1-xCoxZ (Z=Ga, Al; x=0, 0.25, 0.5, 0.75, 1) Heusler alloys
We report the electrical resistivity and magnetoresistance properties of arc-melted Mn2V1-xCoxZ (Z=Ga, Al; x =0, 0.25, 0.5, 0.75, 1) alloys, which possess compensated ferrimagnetic behaviour with high TC when x=0.5. Apart from metallicity, the alloys in the Ga series with x= 0, 0.75, 1 composition showed a positive to negative crossover in the magnetoresistance versus temperature curves. This crossover was absent for Mn2V0.75Co0.25Ga and the fully compensated ferrimagnet Mn2V0.5Co0.5Ga. In contrast to this, Co-substituted Mn2VAl exhibits distinctly different resistive behaviour. While the alloys Mn2VAl and Mn2CoAl exhibit metallic and semiconducting behaviour respectively, the intermediate compositions show a gradual metallic to semiconducting transition as the Co concentration increases. The compensated ferrimagnet Mn2V0.5Co0.5Al showed a mixed transport behaviour of metallic and semiconducting nature with a resistivity minimum at 140 K. In contrast to this mixed response of the arc-melted bulk sample, the Mn2V0.5Co0.5Al melt-spun ribbon shows a clear semiconducting nature throughout the temperature range, indicating that the sample preparation methods could highly influence the electrical properties of the investigated compensated ferrimagnets. 2024 Elsevier B.V. -
Electrical transport and magnetoresistance studies on the magnetic moment compensated Mn2V1-xCoxZ (Z=Ga, Al; x=0, 0.25, 0.5, 0.75, 1) Heusler alloys
We report the electrical resistivity and magnetoresistance properties of arc-melted Mn2V1-xCoxZ (Z=Ga, Al; x =0, 0.25, 0.5, 0.75, 1) alloys, which possess compensated ferrimagnetic behaviour with high TC when x=0.5. Apart from metallicity, the alloys in the Ga series with x= 0, 0.75, 1 composition showed a positive to negative crossover in the magnetoresistance versus temperature curves. This crossover was absent for Mn2V0.75Co0.25Ga and the fully compensated ferrimagnet Mn2V0.5Co0.5Ga. In contrast to this, Co-substituted Mn2VAl exhibits distinctly different resistive behaviour. While the alloys Mn2VAl and Mn2CoAl exhibit metallic and semiconducting behaviour respectively, the intermediate compositions show a gradual metallic to semiconducting transition as the Co concentration increases. The compensated ferrimagnet Mn2V0.5Co0.5Al showed a mixed transport behaviour of metallic and semiconducting nature with a resistivity minimum at 140 K. In contrast to this mixed response of the arc-melted bulk sample, the Mn2V0.5Co0.5Al melt-spun ribbon shows a clear semiconducting nature throughout the temperature range, indicating that the sample preparation methods could highly influence the electrical properties of the investigated compensated ferrimagnets. 2024 Elsevier B.V. -
On the fully compensated ferrimagnetism in Mn2V1-xCoxAl (x=0, 0.25, 0.5, 0.75, 1) Heusler alloys: An ab initio and neutron diffraction study
We present a detailed ab initio investigation on the interesting Heusler alloys Mn2V1-xCoxAl (x=0,0.25,0.5,0.75,1), which exhibit fully compensated ferrimagnetism with high Curie temperature for x = 0.5. Calculations were performed by incorporating various atomic anti-site disorders, and the minimum energy structure causing the fully compensated ferrimagnetic state with high Curie temperature in Mn2V0.5Co0.5Al was identified to be L 21 with Mn-Co disorder. This L 21 phase, along with the ferrimagnetic interaction among the parallelly coupled (Mn(A)-Mn(C)) and (V-Co) pairs, gives rise to the fully compensated ferrimagnetism in the half-metallic Mn2V0.5Co0.5Al Heusler alloy. Increasing Co concentration in Mn?VAl induces a change in structure from the L 2? phase to the X ? phase. The peculiar spin gapless semiconducting behavior of Mn2CoAl was evident from the ab initio results. Ab initio results have explained the previously reported anomalies in the electrical resistivity of Mn2V1-xCoxAl. Neutron diffraction analysis has confirmed, for the first time, that Mn2V0.5Co0.5Al has a disordered L 2? structure, which agrees with the ab initio results. 2025 Elsevier B.V.