Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Purpose: Myasthenia gravis (MG) is an autoimmune disease and closely related to thymoma. Inflammatory myopathy may accompany with other autoimmune diseases. However, concurrence of inflammatory myopathy and MG is very rare. Necrotizing autoimmune myopathy (NAM), a rare form of inflammatory myopathy, is characterized by necrosis and regeneration of myocytes in proximal muscles without significant inflammation. The aim of the study was to report a rare case of NAM and concomitant thymoma-associated MG after thymectomy.Materials and methods/results: A 27-year-old female patient presented with muscle soreness and weakness in four limbs. Eyelid fatigue and neostigmine tests were negative, and no ptosis was found but the electromyographic examination (EMG) showed myogenic damage and a gradual decrease in the amplitude (20%) of EMG activities evoked by repetitive electrical stimulation. Antibodies against AChR and increased titer of creatine kinase were detected and plaque-like signals in both legs were found in magnetic resonance imaging. Myositis-related antibodies were negative but necrotic myocytes without inflammatory cell infiltration, and MHC-1 positive muscle fibers were found in muscle biopsy. Pathological examination confirmed anterior mediastinal B2 type thymoma. Five weeks after thymectomy, she started to show typical MG symptoms. No recurrence of thymoma was found but immunoassay showed a higher titer of AChR-Ab. Myositis-related antibodies negative necrotizing autoimmune myopathy (NAM) was reported to be associated with thymoma-associated MG.Conclusions: The patient showed symptoms related NAM but developed MG-related symptoms only after thymectomy. The mechanisms for the phenomena may be related to immune dysfunction associated with thymoma.
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PMID:Report of a case of necrotizing autoimmune myopathy with thymoma-associated myasthenia gravis. 3207 78

We present extensive clinical, serological, morphological and muscle imaging data of a 66-year-old man with isolated bilateral ptosis and external ophthalmoplegia secondary to Immune checkpoint inhibitors (Pembrolizumab). He had elevated CK level (>5000 UI/L). No facial, bulbar, proximal, distal or axial muscular weakness was observed. Electromyography (EMG) showed myopathic pattern, with spontaneous activity. Myositis specific antibodies and anti-striational antibodies were negative. Cardiac and respiratory functions were preserved. Skeletal muscle MRI was unremarkable, whereas extraocular muscles revealed bilateral hyperintensities in inferior rectus, medial rectus and superior oblique muscles in both T1 and STIR sequences, with mild muscle atrophy. Muscle biopsy showed endomysial inflammatory infiltrates, MHC-1 expression was observed in clusters of non-necrotic cells. CD56 positive cells were observed in perifascicular regions. Patient discontinued Pembrolizumab and received corticosteroid treatment with progressive clinical improvement and CK normalization. Our findings support this clinical entity, suggesting that isolated ocular myositis represents a subgroup of generalised myositis with predominant ocular symptoms.
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PMID:Immune checkpoint inhibitors (ICIs)-related ocular myositis. 3238 81