Impact of the COVID-19 pandemic on treatment of patients with acute myeloid leukaemia in India.

During the COVID-19 pandemic, our findings highlight changes in AML management strategies in India. There was a decrease in overall patient registrations, particularly at large referral centers, while smaller centers saw an increase, reflecting a shift towards more localized care. This shift was accompanied by a rise in the use of hypomethylating agents (HMAs).

Functional Characterization of Thyroid Peroxidase Missense Variants Causing Thyroid Dyshormonogenesis in Asian Indian Population.

Introduction: Thyroid dyshormonogenesis (TDH) is a subgroup of congenital hypothyroidism with recessive inheritance resulting from disease-causing variants in thyroid hormone biosynthesis pathway genes, like DUOX2, TG, TPO, SLC5A5, SLC26A4, IYD, DUOXA2, and SLC26A7. Thyroid peroxidase (TPO) is a crucial enzyme involved in thyroid hormone biosynthesis and is one of the frequently mutated genes in patients with TDH. The purpose of the study was to describe the in silico and functional characterization of novel variants in TPO gene identified in patients with TDH.

Treatment challenges and outcomes of older patients with acute myeloid leukemia from India.

Globally, overall survival (OS) of older patients with AML continues to be suboptimal with very little data from India. In a multicenter registry analysis, we evaluated 712 patients with AML older than 55 years. Only 323 (45.

Mitochondrial-targeted curcumin inhibits T-cell activation via Nrf2 and inhibits graft-versus-host-disease in a mouse model.

Anti-inflammatory and immune suppressive agents are required to moderate hyper-activation of lymphocytes under disease conditions or organ transplantation. However, selective disruption of mitochondrial redox has not been evaluated as a therapeutic strategy for suppression of T-cell-mediated pathologies. Using mitochondrial targeted curcumin (MitoC), we studied the effect of mitochondrial redox modulation on T-cell responses by flow cytometry, transmission electron microscopy, transcriptomics, and proteomics, and the role of Nrf2 was studied using Nrf2 / mice.

The Development of a Clinical Registry Digital Database on Invasive Fungal Infections in India: Advancing Epidemiological Understanding and Patient Care.

A well-structured digital database is essential for any national priority project as it can provide real-time data analysis and facilitate quick decision making. In recent times, particularly after the COVID-19 pandemic, invasive fungal infections (IFIs) have emerged as a significant public health challenge in India, affecting vulnerable population, including immunocompromised individuals. The lack of comprehensive and well-structured data on IFIs has hindered efforts to understand their true burden and optimize patient care.

Changes in Optimal Stimulation Frequency with Time for Gait Disturbances in Patients with PD after STN-DBS-A Longitudinal Study.

Aim: To assess the changes in frequency parameters of STN-DBS stimulation over 6 months required to optimize gait in PD patients.

Methods: It's a single center, open label longitudinal study of PD patients after STN-DBS with gait disorders. Gait assessment using stand-walk-sit (SWS) test and freezing of gait (FOG) scores were done at baseline and after 6 months.

Neurocognitive Profile and F-Fluorodeoxyglucose Positron Emission Tomography Brain Imaging Correlation in Children with Electrical Status Epilepticus during Sleep.

 Electrical status epilepticus in sleep (ESES) is defined by near-continuous epileptiform discharges during sleep along with cognitive, behavioral, and/or imaging abnormalities. We studied the neurocognitive profile and their correlation with F fluorodeoxyglucose positron emission tomography (FDG PET) brain abnormalities in children with ESES.  Fourteen children with ESES with normal magnetic resonance imaging (MRI) from March to December 2019 were included.

Distinct NOD2 mutations reported in three families with Blau syndrome (BS) from a single center in India - Case series and review of literature.

Objective: Blau syndrome (BS), considered a rare pediatric autoinflammatory disease, is characterised by a triad of granulomatous arthritis, dermatitis and uveitis. Here we present a tale of three families visited in our outpatient department in the last two years (2020-2022) where more than one member was affected with either skin, ophthalmological and joint involvement with either biopsy-proven granuloma or genetic mutation at NOD2 gene suggesting the diagnosis of BS.

Case Series: The first family had three affected members where the mother and her two children had skin changes, polyarthritis and a pathogenic mutation in NOD2 gene (exon 4, c.

Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle income countries (LMICs) with limited access to DNA-based diagnosis.

South Asian medical cohorts reveal strong founder effects and high rates of homozygosity.

The benefits of large-scale genetic studies for healthcare of the populations studied are well documented, but these genetic studies have traditionally ignored people from some parts of the world, such as South Asia. Here we describe whole genome sequence (WGS) data from 4806 individuals recruited from the healthcare delivery systems of Pakistan, India and Bangladesh, combined with WGS from 927 individuals from isolated South Asian populations. We characterize population structure in South Asia and describe a genotyping array (SARGAM) and imputation reference panel that are optimized for South Asian genomes.

Effect of Medication and Deep Brain Stimulation on Gait in Parkinson's Disease and its Quantitative Analysis Using Mobishoe - A Comparative Study.

Background: Movement abnormalities pertaining to balance, posture, and gait are observed in Parkinson's disease patients. Gait characteristics vary widely and their analysis has been performed traditionally in gait labs. Freezing and festination usually occur at an advanced stage of the disease and are associated with reduced quality of life.

Postpartum Myasthenic Crisis in a Patient with SLE: A Case Report and Literature Review.

Background: Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease characterized by the presence of numerous autoantibodies while Myasthenia Gravis (MG) is an organ-specific autoimmune disease. The coexistence of both diseases is rarely reported in the literature.

Case Presentation: We report a case of a 29-year-old female SLE patient with chief manifestations of nephritis, inflammatory polyarthritis and cytopenia presented with postpartum shortness of breath and dysphagia requiring emergency intubation and difficulty in weaning.

VNTR Polymorphism in the Intron 5 of SIRT3 and Susceptibility to Breast Cancer.

Background: Breast cancer recurrence and metastasis are associated with alterations in the cellular stress responses that influence tumour signalling. Sirtuin3 (SIRT3), a mitochondrial deacetylase is the regulator of mitochondrial metabolism and oxidative stress affecting tumour cell responses. Genetic variants or dysregulation of SIRT3 was known to associate with poor prognosis of recurrence and relapse in few cancers.

Study of Short-Term Outcome of Surgically Managed Displaced Pediatric Radial Neck Fractures: A Case Series.

Introduction: Pediatric radial neck fractures are relatively rare elbow injuries commonly seen in children between eight to 12 years of age. Judet type III and Judet type IV radial neck fractures require surgical intervention for optimal functional outcomes. The present study evaluates the functional results of Judet type III and IV radial neck fractures operated at a single center.

Macrophage polarization in kidney transplant patients.

Background: Macrophages can oscillate between two functionally distinct states: proinflammatory M1 and anti-inflammatory M2. Classically- activated M1 macrophages produce proinflammatory cytokines (TNF-α, IFN-ƴ, and IL-6), which ares associated with graft dysfunction/rejections. In contrast, alternatively-activated macrophages M2 produce anti-inflammatory cytokines (IL-10) that are involved in host defense, tissue repair/remodeling, debris scavenging, and immune regulation, thereby helps to improve long-term graft survival.

Association of HLA DRB1-DQB1 Haplotypes with the Risk for Neuromyelitis Optica among South Indians.

Background: Neuromyelitis optica (NMO) is an autoimmune demyelinating disorder, mainly characterized by severe optic neuritis, transverse myelitis and the high levels of antibodies against NMO-immunoglobulin G (IgG) or aquaporin-4 (AQP4). HLA-DR and HLA-DQ alleles within the HLA class II region on chromosome 6p21 are known to play a significant role in several autoimmune diseases including NMO. The rationale of the current case-control study is to explore the association of HLA-DRB1 and HLA-DQB1 alleles with the risk of NMO and its association with the clinical and serological markers.

Genome-Wide Polygenic Score Predicts Large Number of High Risk Individuals in Monogenic Undiagnosed Young Onset Parkinson's Disease Patients from India.

Parkinson's disease (PD) is a genetically heterogeneous neurodegenerative disease with poorly defined environmental influences. Genomic studies of PD patients have identified disease-relevant monogenic genes, rare variants of significance, and polygenic risk-associated variants. In this study, whole genome sequencing data from 90 young onset Parkinson's disease (YOPD) individuals are analyzed for both monogenic and polygenic risk.