Sporadic Inclusion Body Myositis: A Clinicopathological Study.

Background: Sporadic inclusion body myositis (s-IBM) is rare in India.

Aim: The aim of this study was to diagnose s-IBM according to the European Neuromuscular Center (ENMC) IBM research diagnostic criteria 2011.

Materials And Methods: A retrospective review of patient records diagnosed as s-IBM according to the above criteria during the period from January 2010 to May 2015 was done with an emphasis on pattern of muscle weakness.

Functional Outcome of Bilateral Subthalamic Nucleus-Deep Brain Stimulation in Advanced Parkinson's Disease Patients: A Prospective Study.

Background: Deep brain stimulation (DBS) is an accepted modality of treatment in patients with Parkinson's disease (PD). Although DBS was approved in advanced PD, it is being done in early PD as well. It was mainly developed to help the patients of PD to overcome the adverse motor effects associated with treatment and treatment failure.

Juvenile idiopathic inflammatory myopathies: A clinicopathological study with emphasis on muscle histology.

Background: Juvenile idiopathic inflammatory myopathies (JIIM) are rare and heterogeneous. Subtype identification is important for treatment.

Materials And Methods: Patients below 18 years diagnosed as idiopathic inflammatory myopathy (IIM) according to the Bohan and Peter criteria between January 2010 and May 2015 were evaluated with muscle biopsy in the four domains: muscle fiber, inflammation, connective tissue, and vascular, with basic panel of histochemical stains as per recommendations of the European Neuromuscular center (ENMC) workshop 2015.

C4d as a marker of complement activation in dermatomyositis muscle tissue.

Aim: To study C4d expression as a marker of complement activation in the diagnosis of dermatomyositis.

Material And Methods: Muscle biopsies from patients diagnosed as definite dermatomyositis (10), nonspecific myositis associated with connective tissue disease (9), necrotizing autoimmune myositis (1), inclusion body myositis (1), and normal muscle (1) according to European Neuromuscular criteria 2004 were studied for C4d expression and capillary loss on CD 34 immunohistochemistry.

Results: C4d was expressed in all biopsies of definite dermatomyositis in the perimysial vessels and in 3/10 endomysial capillaries corresponding to capillary loss on CD 34.

Idiopathic inflammatory myopathies in adults: A comparative study of Bohan and Peter and European Neuromuscular Center 2004 criteria.

Background: Bohan and Peter criteria are widely used for the diagnosis of idiopathic inflammatory myopathies (IIMs). Recently, European Neuromuscular Center (ENMC) formulated criteria to identify subgroups of IIMs.

Aim: To compare the two diagnostic criteria in adult IIMs.

MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis - A case report.

Mutations in human MPV17 have been reported in patients with severe mitochondrial DNA (mtDNA) depletion manifesting as early childhood onset failure to thrive, hypoglycemia, encephalopathy and progressive liver failure. We describe an 11 year old girl, born to consanguineous parents, who presented with rapidly progressive weakness of all 4 limbs with symmetrical proximal and distal weakness, gastrointestinal disease and leukoencephalopathy. Genetic analysis of the patient revealed a homozygous pathogenic mutation c.

Congenital muscular dystrophy with inflammation: Diagnostic considerations.

Background And Purpose: Muscle biopsy features of congenital muscular dystrophies (CMD) vary from usual dystrophic picture to normal or nonspecific myopathic picture or prominent fibrosis or striking inflammatory infiltrate, which may lead to diagnostic errors. A series of patients of CMD with significant inflammatory infiltrates on muscle biopsy were correlated with laminin α2 deficiency on immunohistochemistry (IHC).

Material And Methods: Cryostat sections of muscle biopsies from the patients diagnosed as CMD on clinical and muscle biopsy features from 1996 to 2014 were reviewed with hematoxylin and eosin(H&E), enzyme and immunohistochemistry (IHC) with laminin α2.

Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging.

Chronic progressive external ophthalmoplegia (CPEO) is caused by defects in both mitochondrial and nuclear genes, however, the causal genetic factors in large number of patients remains undetermined. Therefore, our aim was to screen 12 unrelated patients with CPEO for mutation/multiple deletions in mtDNA and mutations in the coding regions of C10orf2, which is essential for mtDNA replication. Histopathological study of muscle biopsy revealed cytochrome c oxidase-deficient fibers and ragged blue fibers in all the patients.

Clinico pathological study of adult dermatomyositis: Importance of muscle histology in the diagnosis.

Aims: To study the histological features on muscle biopsy and correlate them with clinical features, other laboratory data in adult patients to make a diagnosis of dermatomyositis (DM), applying the European Neuromuscular center (ENMC) criteria.

Materials And Methods: Adult patients who fulfilled clinical, laboratory, and muscle biopsy findings according to ENMC criteria for DM during the period 2010-2013 were included in the study. Cryostat sections of muscle biopsy were reviewed with emphasis on Perifascicular atrophy (PFA), perivascular/endomysial inflammation.

Mitochondrial disorders: challenges in diagnosis & treatment.

Mitochondrial dysfunctions are known to be responsible for a number of heterogenous clinical presentations with multi-systemic involvement. Impaired oxidative phosphorylation leading to a decrease in cellular energy (ATP) production is the most important cause underlying these disorders. Despite significant progress made in the field of mitochondrial medicine during the last two decades, the molecular mechanisms underlying these disorders are not fully understood.

Series of paraneoplastic vasculitic neuropathy: a rare, potentially treatable neuropathy.

Background: Paraneoplastic vasculitic neuropathy (PVN) is a rare paraneoplastic syndrome. It is characterized by non-systemic subacute vasculitic neuropathy. It is most commonly associated with small cell lung cancers (SCLC) and lymphomas.

Prevalence of neuropathy in patients with impaired glucose tolerance using various electrophysiological tests.

Background: Neuropathy is often an associated feature woth long-standing type II diabetes mellitus. Neuropathy may occur even in subjects with impaired glucose tolerance.

Objective: To study the prevalence of neuropathy using different electrophysiological techniques in subjects with impaired glucose tolerance (IGT) and no other identifiable cause of neuropathy.

Incidence of malignancies in biopsy-proven inflammatory myopathy.

Background: Inflammatory myopathy (IM) as a manifestation of paraneoplastic syndrome has been well-documented. However, the prevalence of malignancies reported varies across the studies. There are very few studies reported from Asia, only one from India.

Distal myopathy with rimmed vacuoles and inflammation: a genetically proven case.

Distal myopathy with rimmed vacuoles (DMRV) is a major entity of distal myopathy. It is an autosomal recessive disorder and is due to mutations in the GNE gene that regulates the synthesis of sialic acid. Although reported predominantly from Japan, cases have been reported from other parts of the world.

Clinical, electrophysiological subtypes and antiganglioside antibodies in childhood Guillain-Barré syndrome.

Background: Guillain-Barré syndrome (GBS) has been the most common cause of flaccid paralysis in children after the decline in the incidence of poliomyelitis. There are not any published data from the Indian subcontinent documenting electrophysiological patterns and antiganglioside antibodies in pediatric GBS.

Materials And Methods: The study population included children with GBS referred for electrodiagnostic evaluation and also children with GBS admitted to our institute between August 2006 and July 2007.