Magnetic resonance imaging in idiopathic inflammatory myopathies: deciphering the pattern of muscle involvement.

Idiopathic inflammatory myopathies (IIMs) constitute a group of immune-mediated disorders, affecting muscles. Our study aims to investigate the specific patterns of muscle involvement in subgroups of IIM. An ambispective and observational study was conducted.

Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases.

Background: Neuronal ceroid lipofuscinoses (NCLs) are progressive, autosomal recessive lysosomal storage disorders primarily affecting children, marked by seizures, cognitive decline, motor regression, and visual impairment. Limited genetic data exist for South Asian populations, with most studies relying on enzymatic assays or electron microscopy. This study explores the genetic spectrum of NCL and genotype-phenotype correlations in a cohort from South India.

Autoantibody-Based Clinicoradiopathologic Phenotyping of Idiopathic Inflammatory Myopathies: An Indian Cohort.

Objectives: We aim to characterize the clinical, pathological, laboratory and imaging features of various antibody defined IIM subgroups in Indian population.

Methodology: 103 patients who satisfied 2017 ACR/ EULAR Classification criteria for IIM, and tested seropositive for myositis antibodies using Immunoblot technique were retrospectively identified. Patients were classified into following subgroups - Mi2B group, SRP group, Anti RNA Synthetase antibody group (Jo 1, PL 7, PL 12, OJ), multiple MSA, only MAA group (U1RNP, Ro 52, SS-A, SS-B, PM Scl 75, PM Scl 100).