Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.

Introduction: Nuclear envelopathies occur due to structural and/or functional defects in various nuclear envelope proteins such as lamin A/C and lamin related proteins. This study is the first report on the phenotype-genotype patterns of nuclear envelopathy-related muscular dystrophies from India.

Methods: In this retrospective study, we have described patients with genetically confirmed muscular dystrophy associated with nuclear envelopathy.

Identification of a Novel Intronic Mutation in Associated with a Classical Form of X-Linked Myopathy with Autophagy.

  -related myopathy is one of the rare forms of slowly progressive myopathy observed in males. Till now, there have been only a handful of reports, mainly from Europe and America, and two reports from India.  Here, we describe a case of genetically confirmed -associated myopathy with clinical, histopathological, and imaging features with a list of known VMA21 mutations.

Disease Progression and Associations of Microvascular Complications in Diabetic Patients: A Study From South India.

Diabetes mellitus (DM) is a chronic metabolic disease characterized by inappropriately elevated blood glucose levels. If not treated at the early stage, it can lead to complications like diabetic retinopathy (DR) and diabetic nephropathy (DN) which are often associated with severe morbidity and mortality. This study was designed to identify the prevalence of retinopathy and nephropathy in diabetic patients and also to determine the correlation between DR and DN.

Clinical, Radiological, and Genetic Profile of Spinocerebellar Ataxia 12: A Hospital-Based Cohort Analysis.

Introduction: Spinocerebellar ataxia type-12 (SCA12) is a rare form of SCA, most commonly reported from the Indian and related families. In this study we describe the clinical, genetic, and radiological characteristics of a sizeable cohort of genetically proven SCA12.

Methods: A retrospective chart-review of the genetically confirmed SCA12 patients from our centre.

Paraneoplastic neurological syndrome: growing spectrum and relevance.

Paraneoplastic neurological syndromes (PNSs) are group of disorders affecting one or multiple parts of the neuroaxis associated with underlying tumors. An antibody or autoantigen-specific cell-mediated immune response against neural antigen expressed in the tumor is the potential etiology for these rare but refractory disorders. In recent years, wide variety of neurological presentations and autoantibodies has been associated with paraneoplastic autoimmunity, leading to formulation of an updated expert consensus PNS diagnostic criteria.

Thymic Lesions in Myasthenia Gravis: A Clinicopathological Study from India.

Background And Objectives: Thymic pathology is common in Myasthenia Gravis(MG) and plays a crucial role in its pathogenesis and clinical outcome. This study aims to discuss the clinicohistopathological spectrum of thymic lesions in MG.

Methods: In this retrospective study, MG patients who underwent thymectomy from 2011 to 2020 were included.

Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India.

Calpainopathy is caused by mutations in the . There is only one clinical and genetic study of from India and none from South India. A total of 72 (male[M]:female [F] = 34:38) genetically confirmed probands from 72 independent families are included in this study.

Muscle ultrasonography in detecting fasciculations: A noninvasive diagnostic tool for amyotrophic lateral sclerosis.

Background And Objectives: Muscle ultrasound (MUS) is an emerging noninvasive tool to identify fasciculations in amyotrophic lateral sclerosis (ALS). We assessed the utility of MUS in detecting fasciculations in suspected ALS patients.

Methods: Thirty-three patients (25 men) with possible (n = 7), probable (n = 12), or definite ALS according to Awaji criteria were studied.

Diaphragmatic ultrasound: Prospects as a tool to assess respiratory muscle involvement in amyotrophic lateral sclerosis.

Background: Ultrasonography (USG) of the diaphragm is a promising alternative to pulmonary function tests (PFT) for assessing respiratory function in amyotrophic lateral sclerosis/motor neuron disease (ALS/MND).

Methods: We studied 33 patients fulfilling Awaji criteria (definite = 14; probable = 12; possible = 7) and 33 age and gender-matched controls. Diaphragm thickness was measured using USG at the end of expiration (DTex) and end of inspiration (DTin).

Long-term Cognitive Outcomes in Tuberculous Meningitis.

Objective: Data on cognitive changes in patients with tuberculous meningitis (TBM) are sparse. We aimed to study the cognitive profiles of patients with grade I TBM and correlate them with the cytokine values.

Methods: Prospectively, 60 patients (M:F-31:29) with grade I TBM were recruited.

Clinical, neuroimaging and therapeutic response in AQP4-positive NMO patients from India.

Background: Neuromyelitis Optica (NMO) is an autoimmune astrocytopathic disorder due to AQP4 antibodies.

Objectives: To analyse clinical, neuroimaging features in NMO patients and assess the efficacy of various therapeutics.

Methods: AQP4+ve NMO patients were diagnosed based on consensus diagnostic criteria.