Genomic and computational analysis of four novel variants of MPL gene in Congenital Amegakaryocytic Thrombocytopenia.

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare, genetic, autosomal recessive disorder characterized by severe thrombocytopenia, due to inefficient bone marrow megakaryopoiesis eventually leading to aplasia. Majority of the cases are due to homozygous or compound heterozygous mutations in MPL gene encoding for thrombopoietin (THPO) receptor protein. CAMT can be diagnosed at early phase of life, with major complication of transfusion dependency and hematopoietic transplantation as only curative treatment.

Effect of hydroxyurea on erythrocyte apoptosis in hemoglobinopathy patients.

Background: Hydroxyurea (HU) therapy improves the clinical severity of patients with hemoglobinopathies. Few studies have documented some mechanisms of HU, but the exact mechanism of action is unknown. Phosphatidylserine on erythrocytes is responsible for apoptosis.

Exploring risk factors and transmission dynamics of Hepatitis B infection among Indian families: Implications and perspective.

Introduction: Hepatitis B virus (HBV) is global health problem. Family members of HBV infected people are considered as high-risk groups due to frequent household transmission of HBV among contacts of HBsAg carriers. The present study aimed to investigate the intrafamilial transmission of HBV among family members of HBV-infected persons and to identify the risk factors for viral transmission in these setting.

Overview of the serologic and molecular basis of D variants with a focus on D variants in the Indian population.

Complexities of D within the Rh blood group system have long been recognized, initially using basic serologic testing and, more recently, using advanced and sensitive typing reagents. Discrepancies may arise when an individual carries a D antigen showing altered D antigen expression. These D variants are clinically important, since they may lead to production of anti-D in the carrier and induce alloimmunization in D- recipients, making their correct identification imperative.

Synergetic effect of Azacitidine and Sorafenib in treatment of a case of myeloid neoplasm with sole chromosomal abnormality t(8;22)(p11.2;q11.2)/BCR-FGFR1 rearrangement.

The sole t(8;22)(p11.2;q11.2)/BCR- FGFR1 chromosomal abnormality formerly known as aCML is an extremely rare disease entity with a history of rapid progression.

pH-responsive microparticles of rifampicin for augmented intramacrophage uptake and enhanced antitubercular efficacy.

In this study we present pH-responsive rifampicin (RIF) microparticles comprising lecithin and a biodegradable hydrophobic polymer, polyethylene sebacate (PES), to achieve high intramacrophage delivery and enhanced antitubercular efficacy. PES and PES-lecithin combination microparticles (PL MPs) prepared by single step precipitation revealed average size of 1.5 to 2.

Chronic Hepatitis B and Related Liver Diseases Are Associated with Reduced 25-Hydroxy-Vitamin D Levels: A Systematic Review and Meta-Analysis.

Hepatitis B infection is a major public health problem globally leading to chronic liver disease and death, which are influenced by various environmental and host factors including serum 25-hydroxy-vitamin D levels. There is no comprehensive systematic review reporting the association of serum 25-hydroxy-vitamin D levels and different stages of chronic hepatitis B. This study aimed to analyze the association of 25-hydroxy-vitamin D levels in chronic hepatitis B with various determinants and outcomes.

A systematic review on hydroxyurea therapy for sickle cell disease in India.

Background & Objectives: Sickle cell disease (SCD) constitutes frequently inherited haemoglobin disorders and poses a significant health burden in India. Hydroxyurea (HU), the most commonly used drug, has shown promising results in the clinical management of SCD. The present systematic review was undertaken to assess the efficacy and toxicity of HU in Indian sickle cell patients.

Comparative study of clinical features and vaccination status in Omicron and non-Omicron infected patients during the third wave in Mumbai, India.

Objectives: The Omicron variant-mediated COVID-19 wave is responsible for a global tsunami of cases. There is scarce data about the clinical and epidemiological characteristic analyses of the third wave. We present the data of COVID-19 patients from Mumbai region during the early third wave by taking S-gene target failure (SGTF) as a proxy for probable Omicron cases.

A Cross Sectional Assessment of the Profile of Risk Factors of Non-Communicable Diseases Among Health Care Staff of a Tertiary Cancer Hospital.

Background: Non-communicable disease (NCD) is the leading cause of death, accounting for 70% of total death globally, and posing a major public health challenge. In India, nearly 5.8 million people (WHO report, 2015) die from NCDs every year.

Antibody profile in post-vaccinated & SARS-CoV-2 infected individuals.

Background & Objectives: During the COVID-19 pandemic it was important to assess the antibody profile in individuals vaccinated with Covaxin (BBV152) and Covishield (ChAdOx1 nCoV-19) with both 28 and 84 days gaps between two doses, those infected with SARS-CoV-2 and post-COVID-19-infected individuals vaccinated with only one dose of either of the vaccines. The present study was aimed to assess these objectives.

Methods: Fifty real time reverse transcription-polymerase chain reaction (qRT-PCR)-confirmed COVID-19-infected individuals, along with 90 COVID-19-naïve (BBV152 and ChAdOx1 nCov-19)-vaccinated individuals, were included in the study.

SLGT2 Inhibitor Rescues Myelopoiesis in G6PC3 Deficiency.

The energy metabolism of myeloid cells depends primarily on glycolysis. 1,5-Anhydroglucitol (1,5AG), a natural monosaccharide, is erroneously phosphorylated by glucose-phosphorylating enzymes to produce 1,5-anhydroglucitol-6-phosphate (1,5AG6P), a powerful inhibitor of hexokinases. The endoplasmic reticulum transporter (SLC37A4/G6PT) and the phosphatase G6PC3 cooperate to dephosphorylate 1,5AG6P.

Targeted next-generation sequencing revealed a novel homozygous mutation in the gene causes severe haemolysis associated with Inborn Errors of Immunity in an Indian family.

Objectives: LPS-responsive beige-like anchor protein (LRBA) deficiency abolishes LRBA protein expression due to biallelic mutations in the LRBA gene that lead to autoimmune manifestations, inflammatory bowel disease, hypogammaglobulinemia in early stages, and variable clinical manifestations.

Materials And Methods: Mutational analysis of the gene was performed in Indian patients using targeted Next Generation Sequencing (t-NGS) and confirmed by Sanger sequencing using specific primers of exons 53. Then, bioinformatics analysis and protein modeling for the novel founded mutations were also performed.

Newborn Screening for Sickle Cell Disease Among Tribal Populations in the States of Gujarat and Madhya Pradesh in India: Evaluation and Outcome Over 6 Years.

Sickle cell disease (SCD) poses considerable public health problems in India. This study was undertaken to understand the clinical course of SCD among children identified during newborn screening programmes in Gujarat and Madhya Pradesh where the frequency of the HbS gene is high. A total of 8,916 newborn babies 8,411 from Gujarat and 505 from Madhya Pradesh were screened over 6 years (2010-2016) using HPLC and the diagnosis was confirmed by molecular analysis in a subset.

Rare Occurrence of Inhibitors in Von Willebrand Disease: A Case Report.

Type 3 Von Willebrand Disease (VWD) is the least common but the most severe form of a disease, with a prevalence of about 0. 5 to 1 per million in Western countries. The prevalence of type 3 VWD in the developing countries, with a high degree of consanguinity, is about 6 per million.

Clinical, immunological and genomic characteristics of children with X-linked agammaglobulinemia from Kerala, South India.

X-linked agammaglobulinemia (XLA) is an X-linked recessive primary immunodeficiency disorder caused due to a pathogenic variant in the Bruton tyrosine (BTK) gene with an incidence of 1:379,000 live births and 1:190,000 male births. Patients affected with XLA present with recurrent infections of the gastrointestinal and respiratory tracts. Here we report the first case series of 17 XLA patients of 10 South Indian families with a wide spectrum of clinical and genetic features.

Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia.

Background: Methemoglobin is the reduced form of haemoglobin that is normally found in the blood in levels < 1%. Methemoglobinemia can occur as a congenital or acquired disease. Two types of recessive congenital methaemoglobinemia (RCM) are caused by the NADH-dependent cytochrome b5 reductase enzyme deficiency of the CYB5R3 gene.

Efficacy of emicizumab in von Willebrand disease (VWD) patients with and without alloantibodies to von Willebrand factor (VWF): Report of two cases and review of literature.

Introduction: von Willebrand disease (VWD) is the common bleeding disorder with a clinically relevant bleeding prevalence of 1:10,000. von Willebrand disease patients lack both von Willebrand factor (VWF) and factor VIII (FVIII), which are critical for normal haemostasis. The conventional treatment for VWD includes desmopressin and replacement therapy with plasma derived FVIII with VWF concentrates or recombinant VWF.

Significance of genetic modifiers of hemoglobinopathies leading towards precision medicine.

Hemoglobinopathies though a monogenic disorder, show phenotypic variability. Hence, understanding the genetics underlying the heritable sub-phenotypes of hemoglobinopathies, specific to each population, would be prognostically useful and could inform personalized therapeutics. This study aimed to evaluate the role of genetic modifiers leading to higher HbF production with cumulative impact of the modifiers on disease severity.

A Cross-Sectional Study to Correlate Disease Severity in Bullous Pemphigoid Patients with Serum Levels of Autoantibodies Against BP180 and BP230.

Context: Enzyme-linked immunosorbent assay (ELISA) for BP 180 and 230 antibodies is commonly done in patients with bullous pemphigoid. We could not find much data regarding the usefulness of this test to predict the disease severity in Indian population.

Aims: We studied the correlation of IgG anti BP180 and anti BP230 antibody titer with disease severity and clinical features in bullous pemphigoid.

A unique approach to screen for blood donors lacking high-prevalence antigen In of the Indian blood group system.

The In antigen of the Indian blood group system is a high-prevalence antigen. The presence of alloanti-In in a recipient may pose a problem in finding compatible blood for transfusion. The aim of this study was to screen blood donors for In and to include individuals found to be In(b-) in our rare donor registry.