Hemoglobinopathies Among Patients Referred to Single Centre in Central India: An Observational Study.

Sickle cell disease (SCD) and thalassemia are the most common hereditary disorders encountered in Central India. Timely identification of these disorders is critical to reduction in severe clinical manifestations and for identifying disease burden. Present study reports spectrum of hemoglobinopathies among the referred anemia patients to single centre in central India.

Musculoskeletal complications in sickle cell disease: Pathophysiology, diagnosis and management.

Sickle cell disease (SCD) is a mono-genic disorder causing chronic hemolysis, anemia, and vaso-occlusion, leading to musculoskeletal complications such as osteonecrosis, osteoporosis, and bone fractures affecting 50-70% SCD patients. These complications result from a complex interplay of genetic and physiological factors, including abnormal hemoglobin production, chronic inflammation, and oxidative stress. This review discusses the pathophysiology, pre-clinical symptoms, and clinical manifestations of musculoskeletal complications in SCD, as well as current treatment options, including pharmacological interventions, surgical procedures, and bone marrow transplantation.

Establishment and perturbation of human gut microbiome: common trends and variations between Indian and global populations.

Human gut microbial species are crucial for dietary metabolism and biosynthesis of micronutrients. Digested products are utilised by the host as well as several gut bacterial species. These species are influenced by various factors such as diet, age, geographical location, and ethnicity.

Molecular detection of Mycobacterium leprae using RLEP-LAMP and restriction enzyme to ensure amplification specificity.

Early and accurate diagnosis of leprosy is important but remains a significant challenge till date. Loop-mediated isothermal amplification (LAMP) is an isothermal process for amplification of nucleic acids at constant temperature and has been used to develop field-friendly tests for many diseases. In the present study, we have described the development of a colorimetric LAMP assay targeting Mycobacterium leprae-specific 450 bp conserved region of the repeat sequences known as RLEP.

Strengthening Cause of Death Statistics in Selected Districts of 3 States in India: Protocol for an Uncontrolled, Before-After, Mixed Method Study.

Background: Mortality statistics are vital for health policy development, epidemiological research, and health care service planning. A robust surveillance system is essential for obtaining vital information such as cause of death (CoD) information.

Objective: This study aims to develop a comprehensive model to strengthen the CoD information in the selected study sites.

Low prevalence of Plasmodium falciparum histidine-rich protein 2 and 3 gene deletions in malaria-endemic states of India.

Rapid diagnostic tests (RDTs) are crucial for diagnosing malaria in resource-limited settings. These tests, which detect the histidine-rich protein 2 (PfHRP2) and its structural homologue PfHRP3, are specifically designed to identify Plasmodium falciparum. Deletion of the Pfhrp2 gene in parasite has been reported in India and other malaria-endemic countries.

Leprosy.

Leprosy, a neglected tropical disease, causes significant morbidity in marginalized communities. Before the COVID-19 pandemic, annual new case detection plateaued for over a decade at ~200,000 new cases. The clinical phenotypes of leprosy strongly parallel host immunity to its causative agents Mycobacterium leprae and Mycobacterium lepromatosis.

Burden of vaso-occlusive crisis, its management and impact on quality of life of Indian sickle cell disease patients.

Sickle cell disease (SCD) with vaso-occlusive pain crisis (VOC) significantly impacts patient well-being and often results in extensive healthcare resource utilization. This study assessed the VOC burden, its management and its impact on patients' quality of life (QoL). A cross-sectional observational study was conducted between November 2021 and June 2022, including 1000 SCD patients from high-prevalence states in India.

Community-based approaches to improve tuberculosis services: observations from preintervention and postintervention surveys in a high TB burden disadvantaged community in India.

An alarmingly high prevalence of tuberculosis (TB) was reported among the Saharia tribe in Madhya Pradesh, India. A community-based intervention study was undertaken to improve TB case finding during 2018-2021. The interventions mainly comprised active case detection through village TB volunteers using advocacy, communication and social mobilisation activities.

Molecular Characterization and Genomic Surveillance of SARS-CoV-2 Lineages in Central India.

Since the first reported case of COVID-19 in December 2019, several SARS-CoV-2 variants have evolved, and some of them have shown higher transmissibility, becoming the prevalent strains. Genomic epidemiological investigations into strains from different time points, including the early stages of the pandemic, are very crucial for understanding the evolution and transmission patterns. Using whole-genome sequences, our study describes the early landscape of SARS-CoV-2 variants in central India retrospectively (including the first known occurrence of SARS-CoV-2 in Madhya Pradesh).

Tumor Mutational Burden as a Biomarker of Immunotherapy Response: An Immunogram Approach in Onco-immunology.

Immune checkpoint inhibitors have revolutionized cancer treatment by allowing T cells to reactivate. Tumor mutational burden (TMB) is a biomarker that has emerged as a viable diagnostic for locating patients who would benefit from immunotherapy in particular cancer types. Greater neo-antigens mean more opportunities for T cell identification, and TMB is clinically linked to better immune checkpoint inhibitors.

Linking DNA damage and senescence to gestation period and lifespan in placental mammals.

The mechanism that synchronizes the timing of parturition remains a mystery. Each mammalian species has a specific duration of gestation that is determined by integrated interactions among the mother, placenta, and fetus. Senescence is primarily driven by DNA damage and is one of the critical factors influencing both parturition and lifespan.

Phylo-geo haplotype network-based characterization of SARS-CoV-2 strains circulating in India (2020-2022).

Background & objectives Genetic analysis of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) strains circulating in India during 2020-2022 was carried out to understand the evolution of potentially expanding and divergent clades. Methods SARS-CoV-2 sequences (n=612) randomly selected from among the sequences of samples collected through a nationwide network of Virus Research Diagnostic Laboratories during 2020 (n=1532) and Indian sequences available in Global Initiative on Sharing All Influenza Data during March 2020-March 2022 (n=53077), were analyzed using the phylo-geo haplotype network approach with reference to the Wuhan prototype sequence. Results On haplotype analysis, 420 haplotypes were revealed from 643 segregating sites among the sequences.

Genome resequencing and genome-wide polymorphisms in mosquito vectors Aedes aegypti and Aedes albopictus from south India.

Aedes aegypti and Aedes albopictus mosquitoes spread major vector-borne viral diseases in tropical and sub-tropical regions of the globe. In this study, we sequenced the genome of Indian Ae. aegypti and Ae.

Targeting ICAM1 to Ameliorate Vaso-Occlusion and Inflammation in Sickle Cell Disease.

Sickle cell disease (SCD) is a hereditary disorder characterized by vaso-occlusion, inflammation, and tissue damage. Intercellular adhesion molecule 1 (ICAM-1) plays a crucial role in the pathophysiology of SCD by promoting the adhesion of sickle cells to the endothelium, contributing to vaso-occlusion and tissue damage. The ICAM-1 gene encodes a glycoprotein that interacts with lymphocyte function-associated antigen 1 (LFA-1) and macrophage 1-antigen (Mac-1) receptors, perpetuating inflammation, and oxidative stress.

Exploring the genetic mechanisms: SELP gene's contribution to alleviating vaso-occlusive crisis in sickle cell disease.

Sickle cell disease is a catastrophic inflammatory disorder characterized by microvascular vaso-occlusion, leading to high morbidity and increased mortality. P-selectin, a cell adhesion molecule, plays a crucial role in the pathogenesis and severity of sickle cell disease. Its expression and binding with its ligand PSGL-1 is involved in various mechanisms that contribute to inflammation and immune response, resulting in complications in sickle cell disease.

Leptospirosis in central India: A retrospective study to explore burden of tropical illness.

Leptospirosis, an underdiagnosed zoonotic disease in India, was studied retrospectively in Madhya Pradesh, Central India. Between 2018 and 2019, 2617 samples from patients with hepatitis-related symptoms were collected. Of these, 518 tested negative for hepatitis and other tropical viral diseases under the VRDL project were analyzed for leptospira IgM using ELISA.

Strengthening the Diagnosis of Drug-Resistant Tuberculosis Using NGS-Based Approaches and Bioinformatics Pipelines for Data Analysis in India.

In India, drug-resistant tuberculosis (DR-TB) is a major public health issue and a significant challenge to stop TB program. An estimated 27% of new TB cases and 44% of previously treated TB cases are resistant to at least one anti-TB drug. The conventional methods for DR-TB diagnosis are time-consuming and have limitations, leading to delays in treatment initiation and the spread of the disease.

Genetic analysis of the circumsporozoite gene in Plasmodium falciparum isolates from Cameroon: Implications for efficacy and deployment of RTS,S/AS01 vaccine.

Current understanding of genetic polymorphisms and natural selection in Plasmodium falciparum circumsporozoite (PfCSP), the leading malaria vaccine, is crucial for the development of next-generation vaccines, and such data is lacking in Africa. Blood samples were collected among Plasmodium-infected individuals living in four Cameroonian areas (Douala, Maroua, Mayo-Oulo, Pette). DNA samples were amplified using nested PCR protocols, sequenced, and BLASTed.