Focal myositis is a rare benign pseudotumor of skeletal muscle, of unknown cause. Clinically it presents as an enlarging mass within a muscle, usually in en extremity. Biopsy shows characteristic histological changes of inflammation, focal degeneration and regeneration. The natural course of this disorder is spontaneous regression. This report describes the case of a 17-year-old boy with focal myositis of the thigh and a review of the relevant literature.
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Brain
January 2025
Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Nerve conduction F-wave studies contain critical information about subclinical motor dysfunction which may be used to diagnose patients with amyotrophic lateral sclerosis (ALS). However, F-wave responses are highly variable in morphology, making waveform interpretation challenging. Artificial Intelligence techniques can extract time-frequency features to provide new insights into ALS diagnosis and prognosis.
View Article and Find Full Text PDFACS Pharmacol Transl Sci
January 2025
Laboratory of Integrative Systems Physiology, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne 1015, Switzerland.
The accumulation of ceramides and related metabolites has emerged as a pivotal mechanism contributing to the onset of age-related diseases. However, small molecule inhibitors targeting the ceramide synthesis pathway for clinical use are currently unavailable. We synthesized a safe and orally bioavailable inhibitor, termed ALT-007, targeting the rate-limiting enzyme of ceramide synthesis, serine palmitoyltransferase (SPT).
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Background: Inclusion Body Myositis is an acquired muscle disease. Its pathogenesis is unclear due to the co-existence of inflammation, muscle degeneration and mitochondrial dysfunction. We aimed to provide a more advanced understanding of the disease by combining multi-omics analysis with prior knowledge.
View Article and Find Full Text PDFJ Neurol
January 2025
Sorbonne Université, Assistance Publique, Hôpitaux de Paris, Inserm U974, Department of Internal Medicine and Clinical Immunology, Pitié-Salpêtrière University Hospital, Paris, France.
Objectives: Granulomatous myositis (GM) is a rare entity whose precise clinical features and therapeutic outcomes have not yet been well defined. Given the limited evidence, data from a large cohort of patients is needed to aid in the recognition and management of this condition.
Methods: We retrospectively analyzed our institutional databases to identify patients who had myositis and non-caseating granuloma on muscle biopsy (GM).
J Neurol
January 2025
Department of Neuro-Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Background: Neurologic symptoms seen in patients receiving immune checkpoint inhibitors (ICI) may not be entirely caused by immunotoxicity. We aim to highlight these confounding conditions through clinical cases to encourage early recognition and management.
Methods: We describe a series of seven cases from our institution that were treated with ICI and presented with Neurologic symptoms and were diagnosed with superimposed conditions beyond immunotoxicity.
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