Filtered By:
Education: Lessons
This page shows you your search results in order of relevance.
Order by Relevance | Date
Total 28 results found since Jan 2013.
A case report: identification of a novel exon 1 deletion mutation in the GNE gene in a Chinese patient with GNE myopathy
We describe the case of a 32-year-old woman with GNE myopathy. The patient presented with progressive weakness of the lower-limb muscles that had spread to her legs. Her serum creatine kinase level was higher than the normal range. Mild myogenic changes were detected in the tibialis anterior muscles on electromyography, and moderate fatty infiltration was observed in various lower-limb muscles on magnetic resonance imaging. Histopathological examination of a skeletal muscle biopsy specimen revealed variation in muscle fiber size, rimmed vacuoles, and disorganized intermyofibrillar networks. DNA sequencing testing revealed ...
Source: Medicine - October 9, 2020 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Acute myopathy following intra-muscular injection of compound betamethasone: A case report
We report a case of acute steroid myopathy in a patient with eczema receiving one dose of intra-muscular injection of Compound betamethasone.
Patient concerns: Acute steroid myopathy (ASM) is usually caused by exogenous corticosteroids, and typically, occurs with therapy using intravenous corticosteroids at high doses.
Diagnoses: The patient was considered as a diagnosis of acute steroid myopathy.
Interventions: The patient was treated with non-steroid anti-inflammatory drug and other symptomatic therapy.
Outcomes: ASM was gradually improved after 2 weeks symptomatic treatment and completely recovered after one-month t...
Source: Medicine - August 1, 2017 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Myopathy in hyperthyroidism as a consequence of rapid reduction of thyroid hormone: A case report
Rationale: Myalgia and elevated creatine kinase (CK) are occasionally observed during the treatment of hyperthyroid patients. Relative hypothyroidism resulted from rapid thyroid hormone reduction had been promoted as a plausible cause of these myopathic changes, however rarely reported.
Patient concerns: We hereby presented a 20-year-old female with Grave's disease, who developed myopathy and elevated CK during rapid correction of thyroid hormone.
Diagnoses: Relative hypothyroidism-induced myopathy.
Interventions: Antithyroid drug (ATD) dosage was reduced without levothyroxine replacement.
Outcomes: The muscular sympto...
Source: Medicine - July 1, 2017 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
A case report of cyclosporine-induced myopathy with subacute muscular atrophy as initial presentation
Rationale:
Cyclosporine A (CsA) is a potent immunosuppressive agent originally used to prevent rejection after organ transplantation but now more frequently used for treatment of refractory autoimmune diseases. It can induce adverse effects, such as nephrotoxicity, gastrointestinal reactions, and gingival hyperplasia whist myopathy with subacute muscular atrophy are rare.
Patient concerns:
A 55-year-old male patient with idiopathic membranous nephropathy treated with cyclosporine A at 3 mg/kg/d and prednisone at 0.5 mg/kg.d for more than 20 days, gradually developed lower limb weakness, which were progressively ag...
Source: Medicine - April 1, 2019 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Myopathy after rapid correction of hyperthyroidism: A case report and review of literature
This report describes a case of a 25-year-old female with typical symptoms and laboratory test results of Grave hyperthyroidism. The patient complained about fatigue and myalgia 7 weeks after receiving methimazole (MMI) treatment. Blood tests showed dramatically elevated serum CK level, although free triiodothyronine (FT3) and free thyroxine (FT4) level had returned to the normal reference range. MMI was; therefore, discontinued and the patient's muscular symptoms disappeared quickly with the normalization of CK level and the relapse of hyperthyroidism. Later she received 131-I treatment and suffered similar muscular sympt...
Source: Medicine - January 1, 2020 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Anti-NXP2-antibody-positive immune-mediated necrotizing myopathy associated with acute myeloid leukemia: A case report
Rationale:
Idiopathic inflammatory myopathies have been extensively reported associated with malignancy. Immune-mediated necrotizing myopathy (IMNM), however, has rarely been connected with malignancy including acute myeloid leukemia (AML).
Patient concerns:
A 65-year-old woman was diagnosed with AML and received regular chemotherapy. After the 5th cycle chemotherapy, she achieved complete remission but developed severe muscle weakness and myalgia with dramatic increasing creatine kinase (CK).
Diagnosis:
The positivity of antinuclear matrix protein 2 antibody (anti-NXP2 Ab) and muscle biopsy in together confirmed t...
Source: Medicine - July 1, 2018 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
A novel application of tau PET in the diagnosis of sporadic inclusion body myositis: A case report
We presented a 46-year-old woman who suffered from progressive lower limb weakness for one and a half year.
Diagnoses:
Needle electromyography showed myogenic damage. Characteristic myopathological changes of sIBM were discovered, and abnormal tau protein deposits were identified by tau immunostaining. Genetic testing ruled out the GNE myopathy, a hereditary distal myopathy with rimmed vacuoles. The patient was finally diagnosed as sIBM.
Interventions:
We performed [18F] THK5317 PET/MRI on the patient.
Outcomes:
There were significantly increased tau uptake levels in the quadriceps muscles of sIBM patient. The upt...
Source: Medicine - July 31, 2020 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Anti-TIF1γ antibody predicted malignancy of thymic tumor with dermatomyositis as an “autoimmune tumor marker”: A case report
We report a case of anti-TIF1γ antibody positive dermatomyositis (DM) associated with thymic carcinoma which radiographically mimicked benign tumor.
Patient concerns:
A 72-year-old man presented typical characteristic cutaneous manifestations and proximal muscle weakness with elevated levels of myogenic enzymes. An anterior mediastinal tumor was detected by computed tomography (CT) scan and radiographically assessed to be benign with distinct borders and little enhancement.
Diagnoses:
DM with anti-TIF1γ antibody and thymic carcinoma.
Interventions:
Thymic carcinoma was completely resected by surgery. DM was indu...
Source: Medicine - December 1, 2018 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Rosuvastatin and Colchicine combined myotoxicity: lessons to be learnt
AbstractStatins and colchicine co-administration consists of a potentially catastrophic drug –drug interaction since it provokes myotoxicity, myopathy and various degrees of rhabdomyolysis. Lipophilic statins and colchicine are biotransformed in the liver, primarily via CYP3A4 enzyme system leading to elevated blood levels of both agents and resulting in increased potential for combined m yotoxicity. Hence, it would be of great clinical importance not only the awareness of this devastating complication but also the more advantageous type of statin that we should choose to achieve the recommended therapeutic goals regardi...
Source: CEN Case Reports - May 24, 2021 Category: Urology & Nephrology Source Type: research
Early cardiac rehabilitation after heart transplantation in a patient with limb-girdle muscular dystrophy: A case report
Rationale:
Cardiac rehabilitation (CR) after heart transplantation (HT) decreases the mortality rate and increases exercise capacity of patients. Dilated cardiomyopathy develops in most patients with muscular dystrophy (MD), leading to advanced heart failure, necessitating the use of left ventricular assist devices or HT. As the clinical outcomes of left ventricular assist devices and HT in patients with myopathy differ from those in patients without myopathy, CR adapted to patients with MD should be considered.
Patient concerns:
A 39-year-old man with limb-girdle muscular dystrophy developed dilated cardiomyopa...
Source: Medicine - July 29, 2022 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Diseases of captive yellow seahorse Hippocampus kuda Bleeker, pot‐bellied seahorse Hippocampus abdominalis Lesson and weedy seadragon Phyllopteryx taeniolatus (Lacépède)
Abstract
Seahorses, pipefish and seadragons are fish of the Family Syngnathidae. From 1998 to 2010, 172 syngnathid cases from the Toronto Zoo were submitted for post‐mortem diagnostics and retrospectively examined. Among the submitted species were yellow seahorses Hippocampus kuda Bleeker (n = 133), pot‐bellied seahorses Hippocampus abdominalis Lesson (n = 35) and weedy seadragons Phyllopteryx taeniolatus (Lacépède; n = 4). The three most common causes of morbidity and mortality in this population were bacterial dermatitis, bilaterally symmetrical myopathy and mycobacteriosis, accounting for 24%, 17% and 15% of...
Source: Journal of Fish Diseases - May 13, 2014 Category: Zoology Authors: V LePage, J Young, C J Dutton, G Crawshaw, J A Paré, M Kummrow, D J McLelland, P Huber, K Young, S Russell, L Al‐Hussinee, J S Lumsden Tags: Original Article Source Type: research
Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice
Conclusions:
The patients were desmin-null and had myopathy, cardiomyopathy, and a congenital myasthenic syndrome. The data from man and mouse demonstrate that the complete lack as well as the markedly decreased expression of mutant R349P desmin impair the structural and functional integrity of neuromuscular endplates.
Source: Neurology - August 21, 2016 Category: Neurology Authors: Durmus, H., Ayhan, O., Cırak, S., Deymeer, F., Parman, Y., Franke, A., Eiber, N., Chevessier, F., Schlötzer-Schrehardt, U., Clemen, C. S., Hashemolhosseini, S., Schröder, R., Hemmrich-Stanisak, G., Tolun, A., Serdaroglu-Oflazer, P. Tags: Myasthenia, Muscle disease, All Genetics ARTICLE Source Type: research
Kennedy disease with difficulty in differential diagnosis: A case report
We report a case of a 43-year-old male with progressive limb proximal weakness without family history. Physical examination showed gynecomastia, erectile dysfunction, bilateral tendon reflex and quadriceps weakness, and tongue muscle atrophy.
Diagnoses: Laboratory examination found increased creatine kinase, impaired glucose tolerance, and abnormal lactic acid values. There was no mutation or copy number variant in SMN1 gene and related mitochondrion genes tested, even with the use of multiplex ligation probe- dependent amplification technique. Diagnosis was confirmed with genetic analysis which displayed trinucleotide CA...
Source: Medicine - May 1, 2017 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Case report: A rare case of focal myositis presenting as Sartorius muscle contractureA case report and review of literature
Rationale:
Focal myositis (FM) is a very rare myopathy of unknown etiology characterized by focal enlargement within one single skeletal muscle. In particular, it occurs only involving the Sartorius muscle has never been reported.
Patient concerns:
A 25-year-old man was admitted to the hospital with progressive restricted left hip joint extension, left thigh discomfort and gait disturbance for 6 years.
Diagnoses:
Combining clinical manifestations with results of radiological and pathological examinations, it was consistent with the diagnosis of FM
Interventions:
The patient received a surgery under general anest...
Source: Medicine - May 1, 2018 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Limb-girdle muscular dystrophy type 2B misdiagnosed as polymyositis at the early stage: Case report and literature review
Rationale:
Dysferlin myopathy is an autosomal recessive hereditary muscular dystrophy due to deficiency of dysferlin caused by alteration of the DYSF gene; Limb-girdle muscular dystrophy type 2B (LGMD2B) is the most common in Its clinical phenotypes. However, LGMD2B is rarely seen in clinical cases and may initially present as weakness of proximalpelvis muscles and muscles in the posterior compartments of thighs,which will then cause difficulty in running and limping during walking. Laboratory tests at an early stage of the disease often indicate an increased level of serum creatine kinase (CK). Moreover, polymyositis (P...
Source: Medicine - May 1, 2018 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
