Filtered By:
Education: Lessons

This page shows you your search results in order of date.

Order by Relevance | Date

Total 28 results found since Jan 2013.

Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions
ConclusionGiven the small numbers of IARs that occurred with the home infusions, of which only one was severe, we conclude that alglucosidase alfa can be administered safely in the home situation, provided the appropriate infrastructure is present.
Source: BioDrugs - June 16, 2023 Category: Drugs & Pharmacology 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

Ultrasound evaluation of diaphragm motion in BAG-3 myofibrillar myopathy: A case report
We describe the case of a 15-year-old girl who complained of fever and shortness of breath. Diaphragmatic sonography revealed bilateral diaphragmatic paralysis. Shortness of breath progressed to respiratory failure approximately 3 months later. Diagnosis: A neurologist was consulted and genetic sequencing identified a p.Pro209Leu mutation in BAG-3, yielding diagnosis of BAG-3 MFM leading to bilateral diaphragmatic paralysis. Interventions: Respiratory muscle training and long-term mechanical ventilation. Outcomes: It is quite unfortunate for this patient to have a poor prognosis due to the lack of ef...
Source: Medicine - January 7, 2022 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Autoimmune & inflammatory nmd
Idiopathic inflammatory myopathies are a heterogenous group of diseases with prominent muscle inflammation and/or necrosis. Myositis is diagnosed through a combination of clinical, serologic, pathologic, and/or imaging findings, though these tools do not always yield clear diagnoses. A variety of neuromuscular conditions can mimic myositis, including muscular dystrophies, metabolic, endocrine, and toxic myopathies, and infectious myopathies. Through a series of four illustrative cases misdiagnosed as and treated for myositis, we highlight pitfalls and lessons to properly diagnosis myositis mimics to avoid immunosuppressant...
Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: C. Sanderson, S. Bhai 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

Multiple neurological manifestations in a patient with systemic lupus erythematosus and anti-NXP2-positive myositis: A case report
In this report, we describe a 51-year-old Chinese woman who was admitted with a chief complaint of chronic-onset facial paresthesia, dysphagia, and choking cough when drinking water, accompanied by slurred speech, salivation, and limb weakness. The blood autoantibody test results showed that many SLE-associated antibodies were positive. Meanwhile, anti-nuclear matrix protein 2 (NXP2) antibody was strongly positive in the idiopathic inflammatory myopathy (IIM) spectrum test from the serum. Muscle biopsy indicated inflammatory infiltration of the muscle fiber stroma. Diagnoses: Taking into account the clinical manifes...
Source: Medicine - March 12, 2021 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

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

STIR and diffusion-weighted MRI in asymptomatic hyperCKemia caused by ANO5-related myopathy
ABSTRACT Aloysio de Castro (1881-1959) is now remembered as one of Brazil's greatest physicians and is considered the father of Brazilian neurological semiology. However, his interests went far beyond the realm of Medicine, and he became one of the most illustrious intellectuals of his time. In 1927, he gave a speech at the S ão Paulo Society of Artistic Culture on Frédéric Chopin and embarked on a journey across the composer's life and times, discussing the medical issues involving his death, as well as his lovers, his compositions, and the spiritual aspects of musical interpretation. Thus, Castro reinforced the bond s...
Source: Arquivos de Neuro-Psiquiatria - October 7, 2020 Category: Neurology Source Type: research

Atorvastatin associated with gamma glutamyl transpeptidase elevation in a hyperlipidemia patient: A case report and literature review
Rationale: Atorvastatin is the most common drug used in therapy for cardiovascular diseases. The most common adverse side effects associated with statins are myopathy and hypertransaminasemia. Here, we report a rare case of gamma glutamyl transpeptidase (GGT) elevation induced by atorvastatin. Patient concerns: A 47-year-old male was admitted to our hospital with dyslipidemia, he had been taking pitavastatin 2 mg/day for 2 months. The levels of total cholesterol (265.28 mg/dL) and low-density lipoprotein-cholesterol (LDL) (179.15 mg/dL) were also high. Diagnosis: Blood lipid test showed mixed dyslipidemia. ...
Source: Medicine - October 2, 2020 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism
ABSTRACTThe metabolism of sulfur-containing amino acids (SAAs) requires an orchestrated interplay among several dozen enzymes and transporters, and an adequate dietary intake of methionine (Met), cysteine (Cys), and B vitamins. Known human genetic disorders are due to defects in Met demethylation, homocysteine (Hcy) remethylation, or cobalamin and folate metabolism, in Hcy transsulfuration, and Cys and hydrogen sulfide (H2S) catabolism. These disorders may manifest between the newborn period and late adulthood by a combination of neuropsychiatric abnormalities, thromboembolism, megaloblastic anemia, hepatopathy, myopathy, ...
Source: Journal of Nutrition - October 1, 2020 Category: Nutrition 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

Unexpected SARS-CoV-2 cardiorespiratory arrest in a myopathy patient undergoing immunosuppressive treatment: A case report
We present an unique circumstance whereas a patient with a 5 year history of inflammatory muscle disease, diagnosed by clinical history and muscle biopsy with elevated creatine kinase levels, suffered a hypoxemic cardiopulmonary arrest due to asymptomatic SARS-CoV-2 after receiving advanced immunosuppressive therapy. Diagnoses: The patient presented with an acute exacerbation of inflammatory muscle disease with dysphagia, muscle weakness, and elevated creatine kinase. Interventions: After no improvement with intravenous immunoglobulin the patient received mycophenolate and plasma exchange therapy. Outcomes: Subseq...
Source: Medicine - July 24, 2020 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

The Natural History of Danon Disease: Lesson Learned from a Global Registry
Danon Disease (DD) is a rare X-linked autophagic vacuolar myopathy due to LAMP-2 mutation. DD is characterized by high penetrance, severe predominantly hypertrophic cardiomyopathy, cognitive and skeletal muscle as well as vision impairment. Due to its rarity, the natural history (NH) is still uncertain and delay in diagnosis is common.
Source: Journal of Cardiac Failure - July 31, 2019 Category: Cardiology Authors: Michela Brambatti, Boss Le, Galiela Macias, Yasmeen Esshaki, Victor Escobedo, Quan Bui, Gary Ma, Matthew Taylor, Eric Adler Tags: 240 Source Type: research