Does muscle biopsy change the treatment of pediatric muscular disease?
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Surgery International"
DOI: 10.1007/s00383-018-4285-6
Abstract: BackgroundMuscle biopsy is performed to confirm the diagnosis of neuromuscular disease and guide therapy. The purpose of our study was to determine if muscle biopsy changed patient diagnosis or treatment, which patients were most likely… read more here.
Keywords: biopsy; diagnosis; treatment; muscle biopsy ... See more keywords
Very late-onset limb-girdle muscular dystrophy type 2D: A milder form with a normal muscle biopsy
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2019.12.003
Abstract: Sarcoglycanopathies are a genetically heterogeneous group of autosomal recessive limb-girdle muscular dystrophies (LGMD) caused by mutations in sarcoglycan genes. We report a Portuguese patient with a very late-onset LGMD phenotype, whose muscle biopsy and immunostaining,… read more here.
Keywords: late onset; limb girdle; muscle; muscle biopsy ... See more keywords
GNE Myopathy as a Myofibrillar Myopathy: Potential Important Disease Mechanism Implied by Muscle Biopsy.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Neuromuscular Disease"
DOI: 10.1097/cnd.0000000000000317
Abstract: We report a case of 2 sisters in their 20s with genetically confirmed UDP-N-acetylglucoasmine 2-epimerase/N-acetylmannosamine kinase myopathy along with muscle biopsy findings. Both patients described slowly progressive signs of distal-predominant weakness since adolescence that had… read more here.
Keywords: gne myopathy; myofibrillar myopathy; muscle biopsy;
Muscle biopsy practices in the evaluation of neuromuscular disease: A systematic literature review
Sign Up to like & getrecommendations! Published in 2023 at "Neuropathology and Applied Neurobiology"
DOI: 10.1111/nan.12888
Abstract: Muscle biopsy techniques range from needle muscle biopsy (NMB) and conchotome biopsy to open surgical biopsy. It is unknown whether specific biopsy techniques offer superior diagnostic yield or differ in procedural complication rates. Therefore, we… read more here.
Keywords: muscle biopsy; evaluation neuromuscular; muscle; biopsy ... See more keywords
The challenges of muscle biopsy in a community based geriatric population
Sign Up to like & getrecommendations! Published in 2018 at "BMC Research Notes"
DOI: 10.1186/s13104-018-3947-8
Abstract: ObjectivesTo describe the difficulties of obtaining muscle samples using a Bergstrom needle technique in a frail older adult population. The data were obtained from a study primarily investigating immunosenescence in frailty. An intended research technique… read more here.
Keywords: muscle; frail older; muscle biopsy; older adults ... See more keywords
Preoperative Muscle Biopsy to Assess Motor End Plate Integrity as a Predictor for Successful Nerve Transfer
Sign Up to like & getrecommendations! Published in 2023 at "JBJS Case Connector"
DOI: 10.2106/jbjs.cc.22.00569
Abstract: Case: A 60-year-old right-hand–dominant man was referred for persistent right deltoid weakness, lateral shoulder numbness, and severe functional deficit 3 months after undergoing proximal humerus open reduction and internal fixation with plate and fibular strut… read more here.
Keywords: muscle biopsy; transfer; plate; muscle ... See more keywords
Dropped Head Syndrome and the Presence of Rimmed Vacuoles in a Muscle Biopsy in Scleroderma-polymyositis Overlap Syndrome Associated with Anti-Ku Antibody
Sign Up to like & getrecommendations! Published in 2018 at "Internal Medicine"
DOI: 10.2169/internalmedicine.9363-17
Abstract: A 66-year-old woman with a history of interstitial lung disease presented with a 3-month history of dropped head syndrome (DHS), followed by camptocormia and extremity weakness. A clinical examination revealed Raynaud phenomenon, arthralgia, distal skin… read more here.
Keywords: overlap syndrome; syndrome; muscle biopsy; dropped head ... See more keywords
Muscle Biopsy-proven Drug-induced Microscopic Polyangiitis in a Patient with Tuberculosis
Sign Up to like & getrecommendations! Published in 2022 at "Internal Medicine"
DOI: 10.2169/internalmedicine.9599-22
Abstract: We herein report a case of muscle biopsy-proven microscopic polyangiitis (MPA) in a patient with tuberculosis. The patient had developed a persistent fever after the initiation of treatment for tuberculosis and was positive for myeloperoxidase-antineutrophil… read more here.
Keywords: muscle biopsy; biopsy proven; tuberculosis; microscopic polyangiitis ... See more keywords
The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
Sign Up to like & getrecommendations! Published in 2019 at "Yonsei Medical Journal"
DOI: 10.3349/ymj.2019.60.1.98
Abstract: Purpose The disease entity mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is characterized by an early onset of stroke-like episodes. MELAS is the most dominant subtype of mitochondrial disease. Molecular genetic testing is important… read more here.
Keywords: muscle; muscle biopsy; pathology; like episodes ... See more keywords
The Author Reply: Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS
Sign Up to like & getrecommendations! Published in 2019 at "Yonsei Medical Journal"
DOI: 10.3349/ymj.2019.60.4.401
Abstract: www.eymj.org We would like to thank Dr. Finsterer for raising a number of important points on our paper, and agree that there were some shortcomings in our current study. Muscle biopsy has been included in… read more here.
Keywords: diagnostic evaluation; initial diagnostic; muscle; muscle biopsy ... See more keywords
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2021.735488
Abstract: The role of muscle biopsy in the diagnostic workup of floppy infants is controversial. Muscle sampling is invasive, and often, results are not specific. The rapid expansion of genetic approach has made the muscle histopathology… read more here.
Keywords: role muscle; muscle; muscle biopsy; histopathology ... See more keywords