Results 11 to 20 of about 159,171 (308)
Clinicopathological Study of Spectrum of Muscle Disorders in a Tertiary Care Hospital [PDF]
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
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Muscle biopsy essential diagnostic advice for pathologists
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
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
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
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Statin and fibrate associed myopathy: study of eight patients [PDF]
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
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
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Clinical and prognostic significance of muscle biopsy in sarcoidosis
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
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
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Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies
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
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
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