Results 11 to 20 of about 159,171 (308)

Clinicopathological Study of Spectrum of Muscle Disorders in a Tertiary Care Hospital [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2021
Introduction: The diagnostic approach to muscle disorders is often challenging due to paucity of literature, unavailability of ancillary facilities, affordability and improper sample collection.
Mayank Sharma   +3 more
doaj   +1 more source

Muscle biopsy essential diagnostic advice for pathologists

open access: yesSurgical and Experimental Pathology, 2021
Background Muscle biopsies are important diagnostic procedures in neuromuscular practice. Recent advances in genetic analysis have profoundly modified Myopathology diagnosis.
Ana Cotta   +14 more
doaj   +1 more source

Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation

open access: yesBrain and Behavior, 2022
Introduction Mutations in the GFPT1 gene are associated with a particular subtype of congenital myasthenia syndrome (CMS) called limb‐girdle myasthenia with tubular aggregates.
Kaiyan Jiang   +9 more
doaj   +1 more source

Intramuscular hematoma of the vastus lateralis following percutaneous skeletal muscle microbiopsy: a case report

open access: yesPhysiological Reports, 2021
Recently, percutaneous microbiopsy needles have been used as a less invasive alternative to the Bergstrom needle for obtaining human skeletal muscle biopsy to assess changes in protein content, gene expression, and enzymatic activities.
Patrick J. Drouin   +3 more
doaj   +1 more source

Statin and fibrate associed myopathy: study of eight patients [PDF]

open access: yesArquivos de Neuro-Psiquiatria, 2004
Lipid-lowering drugs have been occasionally associated with neuromuscular symptoms and muscle biopsy changes. We reported the clinical course and the muscle biopsy in eight patients with hyperlipoproteinemia, treated with lipid -lowering drugs (statins ...
Alzira A. Siqueira Carvalho   +2 more
doaj   +1 more source

Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature

open access: yesJournal of International Medical Research, 2022
A 26-year-old Asian woman with persistent muscle weakness was diagnosed with polymyositis based on biopsy findings at another hospital 11 years ago. However, her symptoms fluctuated repeatedly under treatment with prednisone and immunosuppressive agents,
Xiaoli Pan   +4 more
doaj   +1 more source

Clinical and prognostic significance of muscle biopsy in sarcoidosis

open access: yesMonaldi Archives for Chest Disease, 2018
The main objective of this study was to evaluate the influence of muscle involvement on the clinical features, prognostic outcome, extrapulmonary organ, and endobronchial involvement in sarcoidosis patients.
Halil Yanardag   +2 more
doaj   +1 more source

Neuromuscular Disorders: A Histomorphological and Clinicopathological Evaluation in a Tertiary Care Centre

open access: yesJournal of Medical Sciences and Health, 2023
Background: Neuromuscular disorders are rare, inherited progressive disorders leading to major disabilities over the years. As a group, there prevalence is not so uncommon and requires attention in view of their rising cases. Muscle biopsy forms
Ashmeet Kaur   +4 more
doaj   +1 more source

Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies

open access: yesFrontiers in Neurology, 2021
Ryanodine receptor type 1-related congenital myopathies are the most represented subgroup among congenital myopathies (CMs), typically presenting a central core or multiminicore muscle histopathology and high clinical heterogeneity. We evaluated a cohort
Eleonora Mauri   +17 more
doaj   +1 more source

Muscle biopsy in Pompe disease

open access: yesArquivos de Neuro-Psiquiatria, 2013
Pompe disease (PD) can be diagnosed by measuring alpha-glucosidase levels or by identifying mutations in the gene enzyme. Muscle biopsies can aid diagnosis in doubtful cases.
Lineu Cesar Werneck   +3 more
doaj   +1 more source

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