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.

Indian Trial of Tranexamic acid in Spontaneous Intracerebral Hemorrhage study protocol.

Rationale: Early mortality in intracerebral hemorrhage (ICH) is due to hematoma volume (HV) expansion, and there are no effective treatments available other than reduction in blood pressure. Tranexamic acid (TXA) a hemostatic drug that is widely available and safe can be a cost-effective treatment for ICH, if proven efficacious.

Hypothesis: Administration of TXA in ICH patients when given within 4.

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).

Anticoagulation Status and Outcome in Cerebral Venous Thrombosis: A Single-Center Retrospective Study from South India.

Background And Objectives: Early initiation and maintenance of anticoagulation appears to be the mainstay of treatment of cerebral venous thrombosis (CVT), but the evidence supporting the intensity and duration of anticoagulation is limited.

Methods: We retrospectively collected data of patients admitted with CVT over a 5-year period, who had a minimum of 6 months of clinical follow-up and three or more prothrombin time international normalized ratio (INR) values spread over 6 months. Data collected included demographic, clinical, and radiologic parameters, anticoagulation status during the follow-up, complications, and clinical status at the last follow-up.

Cardiac MRI in Duchenne and Becker Muscular Dystrophy.

Background And Objectives: Cardiovascular magnetic resonance imaging (CMRI) is the noninvasive technique of choice for early detection of cardiac involvement in Duchenne and Becker muscular dystrophy (DMD and BMD, respectively), but is seldom used in routine clinical practice in the Indian context. We sought to determine the prevalence of CMRI abnormalities in patients with DMD and BMD and to compare the CMRI parameters with the phenotypic and genotypic characteristics.

Methods: A prospective, observational study was conducted on patients genetically diagnosed with DMD and BMD who could complete CMRI between March 2020 and March 2022.

Effect of Immunosuppression in Risk of Developing Generalized Symptoms in Ocular Myasthenia Gravis: A Retrospective Cohort Study.

Backgrounds And Objectives: Early use of immunosuppression has been suggested to prevent generalization of ocular myasthenia gravis (OMG), but high-quality evidence is limited in this regard. We examined whether treatment with prednisone and other immunosuppressants reduce the risk of generalization in OMG.

Methods: This is a retrospective study of consecutive adults with pure OMG who had a minimum 6 months of follow-up.

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.

Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.

Background: Congenital myopathies (CMs) are a diverse group of inherited muscle disorders with broad genotypic and phenotypic heterogeneity. While the literature on CM is available from European countries, comprehensive data from the Indian subcontinent is lacking.

Objectives: This study aims to describe the clinical and histopathological characteristics of a cohort of genetically confirmed CMs from India and attempts to do phenotype-genotype correlation.

Angiopoietin-like 4 is upregulated by amphiregulin and activates cell proliferation and migration through p38 kinase in head and neck squamous cell carcinoma.

Background: Angiopoietin-like 4 is a molecular hallmark that correlates with the growth and metastasis of head and neck squamous cell carcinoma, one of the most prevalent cancers worldwide. However, the molecular mechanisms by which angiopoietin-like 4 promotes head and neck squamous cell carcinoma tumorigenesis are unclear.

Methods: Using well-characterized cell lines of head and neck squamous cell carcinoma development, including human normal oral keratinocytes, dysplastic oral keratinocytes, oral leukoplakia-derived oral keratinocytes, and head and neck squamous cell carcinoma cell lines, HN13, HN6, HN4, HN12, and CAL27, we investigated the signaling pathways upstream and downstream of angiopoietin-like 4-induced head and neck squamous cell carcinoma tumorigenesis.

Qualitative and Quantitative Electrocardiogram Parameters in a Large Cohort of Children with Duchenne Muscle Dystrophy in Comparison with Age-Matched Healthy Subjects: A Study from South India.

Background: Electrocardiography (ECG) remains an excellent screening tool for cardiac assessment in Duchenne muscular dystrophy (DMD), but an accurate interpretation requires comparison with age-matched healthy controls.

Objective: We examined various ECG parameters in children with DMD, in comparison with age-matched controls.

Methods: Standard 12-lead ECG tracings of serial patients were screened for quality and selected.

Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent Missense Variant.

Background And Objectives: Distal myopathies are a heterogeneous group of primary muscle disorders with recessive or dominant inheritance. is a muscle-specific adenylosuccinate synthase isoform involved in adenine nucleotide synthesis. Recessive pathogenic variants in the gene located in chromosome 14q32.

A novel DHTKD1 gene mutation with ALS like presentation: a case report.

DHTKD1 is a nuclear gene that encodes "dehydrogenase E1 and transketolase domain-containing 1", essential in mitochondrial metabolism. First identified in the patients of 2-amino-apidic and 2 oxoapidic aciduria, mutation in this gene has recently been implicated in CMT2Q and ALS. Here we report the case of a septuagenarian who presented with a 2 years progressive history of respiratory and neck muscle weakness without significant bulbar and limb involvement.

Atypical Presentation of Tangier Disease-Expanding the Clinical Spectrum.

Tangier disease is an autosomal recessive multisystem metabolic disorder with neuromuscular manifestations including peripheral neuropathy such as multifocal mononeuropathy or pseudosyringomyelia patterns. We report a novel phenotype of Tangier disease with predominant anterior horn cell involvement. A 16-year-old adolescent girl born to consanguineous parents had a 1-year history of hip girdle weakness with waddling gait and progressive atrophy of the right leg.

Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort.

Background: Kennedy disease (KD) is a slowly progressive lower motor neuron degenerative disease. The prevalence of KD is unknown in India.

Aim: To describe the phenotypic and laboratory features of an Indian cohort of KD patients.

Utility of 3D T1-weighted turbo spin echo black blood sequence for the diagnosis of cerebral venous thrombosis.

Purpose: Accurate assessment of dural sinus, deep and cortical venous thrombosis on MR imaging is challenging. The aim of this study is to evaluate the accuracy of 3D-T1 turbo spin echo (T1S), sequences in detecting venous thrombosis and comparing it with susceptibility-weighted imaging (SWI), magnetic resonance venography (MRV) and post contrast T1 magnetization-prepared rapid acquisition gradient echo (T1C).

Methods: A blinded retrospective observational analysis of 71 consecutive patients evaluated for cerebral venous thrombosis (CVT) and 30 control patients was performed.

Angiopoietin-like 4 induces head and neck squamous cell carcinoma cell migration through the NRP1/ABL1/PXN pathway.

Objectives: The molecular mechanisms whereby angiopoietin-like 4 (ANGPTL4), a pluripotent protein implicated in cancer development, contributes to head and neck squamous cell carcinoma (HNSCC) growth and dissemination are unclear.

Materials And Methods: We investigated ANGPTL4 expression in human normal oral keratinocytes (NOKs), dysplastic oral keratinocytes (DOKs), oral leukoplakia cells (LEUK1), and HNSCC cell lines, as well as in tissue biopsies from patients with oral dysplasia, and primary and metastatic HNSCC. We further examined the contribution of ANGPTL4 cancer progression in an HNSCC orthotopic floor-of mouth tumor model and the signaling pathways linking ANGPTL4 to cancer cell migration.

Demographic and clinical determinants of the quality of life in adults with inherited and acquired myopathies.

Background And Purpose: Measuring health-related quality of life (QOL) is vital for understanding the disease impact, but the complex relationship between clinical parameters and QOL remains unclear. The objective was to determine the demographic and clinical factors that influence the QOL in adults with inherited and acquired myopathies.

Methods: The study was of cross-sectional design.

MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO).

Chronic progressive external ophthalmoplegia (CPEO) is symptom complex with progressive ptosis and restricted ocular motility without diplopia. MYH2 myopathy is rare disorder presenting with CPEO and muscle weakness. We report two Indian patients of MYH2 myopathy with unique features.