Prevalence of Oral Potentially Malignant Lesions, Tobacco use, and Effect of Cessation Strategies among Solid Waste Management workers in Northern India: a pre-post intervention study.

Background: India bears the highest global burden of oral cancer, despite having an operational tobacco cessation framework. Occupational groups like solid waste management personnel face significant health challenges due to prevalent tobacco use, leading to oral potentially malignant lesions and oral cancer. Enhanced tobacco control strategies are essential for these groups.

ACKR1 gene polymorphisms in Bombay blood group (O) individuals of Indian origin.

Background: ACKR1 blood group genes exhibit a high degree of polymorphisms with varying allele distribution seen among different populations and ethnic groups. The study aimed to genotype ACKR1 antigens and to establish FY allele frequency among the individuals with the Bombay (Oh) blood group phenotype.

Materials And Methods: ACKR1 phenotype and genotype frequencies were estimated on 160 individuals typed as Oh and were compared with 100 non-oh blood donors from Mumbai, India by molecularly genotyping via PCR-RFLP.

Targeted Next Generation Sequencing (tNGS) for detection of drug-resistant tuberculous meningitis: Is this sequencing technology ready for prime time?

Purpose: Tuberculous meningitis (TBM) is the most severe form of tuberculosis (TB). Difficulty in diagnosing the condition along with other factors, increases its potential for high morbidity and mortality. Targeted Next Generation Sequencing (tNGS) generates high quality sequence read depths, enabling the identification of low-frequency alleles linked to Drug resistance (DR).

Profile and Geospatial Analysis of Dog Bite Cases Attending the Antirabies Vaccine Outpatient Department at the Tertiary Level Hospital of Mumbai.

Background: Dog bites pose a significant public health concern in India, necessitating an understanding of their epidemiological profile and spatial distribution. Adopting the One Health approach, which considers the interconnection of human, animal, and environmental health, is vital for developing effective interventions.

Objectives: The study aimed to assess the epidemiological profile and geospatial trends of dog bite cases in an urban area, focusing on the age and gender distribution of victims, severity of bites, and spatial distribution of cases to inform prevention strategies.

Yoga-based lifestyle intervention for healthy ageing in older adults: a two-armed, waitlist randomized controlled trial with multiple primary outcomes.

Yoga-based clinical research has shown considerable promise in varied ageing-related health outcomes in older adults. However, robust frameworks have yet to be used in intervention research to endorse yoga as a healthy ageing intervention to test the multidimensional construct of healthy ageing. This was an assessor-masked, randomized controlled trial conducted among 258 sedentary, community-dwelling older adults aged 60-80 years, randomly allocated to 26-week yoga-based intervention (YBI) (n = 132) or waitlist control (WLC) (n = 126).

Autoimmune anti-D in an RhD-positive young infant: Learning from a rare case.

Background And Objectives: Anti-D is usually immune in nature and is formed in individuals lacking D antigen or having variants/altered D phenotypes. In the Indian population, 93.8% are RhD positive, and R R is the commonest Rh phenotype.

Response of stem cells derived from human exfoliated deciduous teeth to Bio-C Repair and Mineral Trioxide Aggregate Repair HP: Cytotoxicity and gene expression assessment.

Background: The aim of this study was to investigate and compare the cytotoxicity and gene expression of Bio-C Repair, Mineral Trioxide Aggregate (MTA) HP Repair, and Biodentine on stem cells derived from exfoliated deciduous teeth.

Materials And Methods: In this study MTT assay was used to assess the cellular viability at three different dilutions. The gene expression of Runt-related transcription factor 2 (Runx2), alkaline phosphatase (ALP), osteocalcin [OCN], and dentin matrix protein-1 (DMP-1) was measured with real-time polymerase chain reaction after 7 days, 14 days, and 21 days of incubation.

Monogenic inborn errors of immunity in autoimmune disorders.

To estimate the prevalence of monogenic inborn errors of immunity in patients with autoimmune diseases (AID), the study included 56 subjects (male:female ratio: 1.07) with mean age of onset of autoimmunity 7 years (4 months-46 years). 21/56 had polyautoimmunity.

Clinical, immunological and molecular findings of patients with DOCK-8 deficiency from India.

DOCK8 deficiency affects various cell subsets belonging to both the innate and adaptive immune systems. Clinical diagnosis is challenging, as many cases present with severe atopic dermatitis as the only initial manifestation. Though flow cytometry helps in the presumptive diagnosis of DOCK8-deficient patients by evaluating their DOCK8 protein expression, it requires subsequent confirmation by molecular genetic analysis.

Higher proinflammatory responses possibly contributing to suppressed cytotoxicity in patients with COVID-19 associated mucormycosis.

Introduction: COVID-19 Associated Mucormycosis (CAM), an opportunistic fungal infection, surged during the second wave of SARS Cov-2 pandemic. Since immune responses play an important role in controlling this infection in immunocompetent hosts, it is required to understand immune perturbations associated with this condition for devising immunotherapeutic strategies for its control. We conducted a study to determine different immune parameters altered in CAM cases as compared to COVID-19 patients without CAM.

Frequency and pattern of chromosomal abnormalities in acute myeloid leukemia from Western India: A retrospective study.

Context: Chromosomal abnormalities play an important role in diagnosis and prognosis of hematological diseases.

Aims: The aim of the present study was to study the pattern and frequency of chromosomal aberrations in acute myeloid leukemia (AML) subgroups from western India.

Settings And Design: A retrospective study was conducted through evaluating laboratory proforma which were filled during 2005 to 2014 for diagnosis and treatment of AML subjects.

Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.

Pyruvate kinase deficiency (PKD) is an autosomal recessive condition, caused due to homozygous or compound heterozygous mutation in the PKLR gene resulting in non-spherocytic hereditary hemolytic anemia. Clinical manifestations in PKD patients vary from moderate to severe lifelong hemolytic anemia either requiring neonatal exchange transfusion or blood transfusion support. Measuring PK enzyme activity is the gold standard approach for diagnosis but residual activity must be related to the increased reticulocyte count.

Phenotyping and Genotyping of HNA: Prevalence, Risk of Alloimmunization, and HNA Incompatibilities in Indians.

Background: Antibodies to human neutrophil alloantigens (HNA) are involved in the pathophysiology of several clinical conditions including transfusion-related acute lung injury (TRALI), alloimmune and autoimmune neutropenia, and febrile nonhemolytic transfusion reactions leading to neutropenia. The cognate antigens are polymorphic structures expressed on several glycoproteins on the neutrophils, i.e.

Response of intra canal medicaments on viability and survival of SHEDs.

Background: Regenerative endodontic procedures (REP) rely on the principles of tissue engineering and take advantage of the regenerative abilities of Stem Cells derived from human exfoliated deciduous teeth (SHEDs). Since REPs advise the minimal instrumentation of root canals, they are more dependent on intracanal medicaments with antimicrobial activity to provide a sterile environment for pulpal regeneration. Hence present trial was conducted to examine the influence of different intracanal medicaments on SHEDs proliferation and survival.

Comprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development.

Disorders of sex development (DSD) are a group of clinical conditions with variable presentation and genetic background. Females with or without development of secondary sexual characters and presenting with primary amenorrhea (PA) and a 46,XY karyotype are one of the classified groups in DSD. In this study, we aimed to determine the genetic mutations in 25 females with PA and a 46,XY karyotype to show correlations with their phenotypes.

Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum.

Hereditary Spherocytosis (HS) is a common cause of hemolytic anemia varying from mild to severe hemolysis due to defects in red cell membrane protein genes, namely ANK1, SPTB, SPTA1, SLC4A1, and EPB42. These genes are considerably very large spaning 40-50 exons making gene-by-gene analysis costly and laborious by conventional methods. In this study, we explored 26 HS patients harboring 21 ANK1 variants identified by next-generation sequencing (NGS), characteristics and spectrum of the detected ANK1variants were analyzed in this study.

Over expression of mTOR gene predicts overall survival in myelodysplastic syndromes.

Background: Myelodysplastic syndromes (MDS) is defined as heterogenous disease, it contains heterogenous leukemic stem cells with various degree of cell differentiation. The perturbation of genes involved in myeloid progenitor cell growth, differentiation and proliferation lead to morphologic dysplasia, maturation arrest, ineffective hematopoiesis hence the cytopenias and propensity to develop into acute myeloid leukemia (AML). Heterogeneous subsets of MDS patients have been defined by their clinical and biologic abnormalities.

Successful management of Methemoglobinemia and G6PD deficiency in a patient posted for surgical excision of branchial cyst.

A 27-year-old female patient who came for branchial cyst excision was found to have cyanosis and a saturation gap during preanesthetic check-up and hence she was referred to haematology for further workup. She had a Hb of 9 gm% with all other baseline tests as normal. Blood samples were sent for methaemoglobin estimation and related work up to the National Institute of Immunohematology (NIIH) Mumbai.

Gastrointestinal involvement of common variable immunodeficiency: A diagnostic challenge to the physician.

A 35-year-old male presented with fatigue for 1 month and was found to have megaloblastic anaemia. Further evaluation showed low globulin levels and pan hypogammaglobulinemia. Past history was significant for chronic small bowel diarrhoea and bilateral genu valgum deformity from childhood.