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Procedure: Bone Marrow Aspiration and Biopsy
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Total 64 results found since Jan 2013.
Case Report: Calpainopathy Presenting After Bone Marrow Transplantation, With Studies of Donor Genetic Content in Various Tissue Types
This report emphasizes that genetic disease should still be considered in the context of presumably acquired disease, and also demonstrates the extent of transdifferentiation of donor cells into other tissues.
Source: Frontiers in Neurology - January 11, 2021 Category: Neurology Source Type: research
Autologous Bone Marrow Transplantation for Polymyositis Combined with Myasthenia Gravis and Aplastic Anemia: A Case Report
This is the first report about a patient with concomitant polymyositis (PM), myasthenia gravis (MG), and aplastic anemia (AA). A 54-year-old male developed myalgia and muscle weakness, which gradually progressed over 2 months. He was persistently affected by MG and AA. Brachium magnetic resonance imaging showed increased signal intensity in the left triceps and deltoid muscles on short tau inversion recovery images. A muscle biopsy examination revealed perifascicular atrophication and inflammatory myopathy. We diagnosed the patient with PM combined with MG and AA. He was successfully treated with an autologous bone marrow ...
Source: Case Reports in Neurology - April 17, 2018 Category: Neurology Source Type: research
Novel myopathy in a newborn with Shwachman–Diamond syndrome and review of neonatal presentation
We report a newborn boy with asphyxia, narrow thorax, and severe hypotonia initially suggesting a neuromuscular disease. The muscle biopsy showed myopathic changes with prominent variability in muscle fiber size and abnormal expression of developmental isoforms of myosin. The myofibrils showed focal loss and disorganization of myofilaments, and thickening of the Z‐discs including some abortive nemaline rods. The boy became permanently dependent on assisted ventilation. Pancreatic insufficiency was subsequently diagnosed, explaining the malabsorption and failure to thrive. Except transitory thrombocytopenia and leukopenia...
Source: American Journal of Medical Genetics Part A - February 1, 2016 Category: Genetics & Stem Cells Authors: Alexandra Topa, Mar Tulinius, Anders Oldfors, Carola Hedberg‐Oldfors Tags: Research Article Source Type: research
Teaching NeuroImages: Dyspnea as a presenting manifestation of amyloid myopathy
A 69-year-old man had dyspnea followed by slowly progressive proximal leg weakness over 2 years. He had macroglossia (figure 1). Creatine kinase was 1,378 U/L. A deltoid biopsy revealed myopathy, denervation atrophy, and congophilic deposits around perimysial vessels, indicating amyloid (figure 2). Further workup revealed serum monoclonal lambda protein, bone marrow amyloid, and cardiomyopathy. Amyloid myopathy, an underrecognized entity, predominantly presents with progressive proximal weakness in primary amyloidosis.1 Dyspnea results from cardiomyopathy or respiratory muscle weakness (our patient had both). Macroglossia ...
Source: Neurology - December 9, 2013 Category: Neurology Authors: Ghosh, P. S., Thaera, G. M., Tracy, J. A. Tags: RESIDENT AND FELLOW SECTION Source Type: research
