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Journal articles on the topic 'Myopathes'

Author: Grafiati

Published: 4 June 2021

Last updated: 9 February 2022

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1

Semenova, Anastasiia A., Tatiana G. Kuznetsova, Victoria V. Nasonova, Roman V. Nekrasov, and Nadezhda V. Bogolyubova. "MYOPATHY AS A DESTABILIZING FACTOR OF MEAT QUALITY FORMATION." Theory and practice of meat processing 4, no. 3 (2019): 24–31. http://dx.doi.org/10.21323/2414-438x-2019-4-3-24-31.

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This review paper is devoted to myopathy of slaughter animals and poultry, and examines a relationship between fast growth of muscle tissue in hybrid pigs, broiler chickens and turkey, and high frequency of detection of spontaneous or idiopathic myopathies. The development of myopathy reduces consumer and technological properties of meat, and leads to emergence of different pathological conditions (PSE or RSE meat, «destructured meat», «white» or «green» meat, punctate hemorrhage, «wooden breast» and others). Two types of myopathic conditions are examined: myopathies caused by stress in animal

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Jovenet, Anne-Marie. "Différences de pédagogie ou différences de schèmes? Le cas des adolescents myopathes." Revue française de pédagogie 122, no. 1 (1998): 41–50. http://dx.doi.org/10.3406/rfp.1998.1135.

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Hooshmand, Sara, and Raghav Govindarajan. "Scapuloperoneal Myopathy and Cardiomyopathy with a Novel MYH7 Mutation: A Case Report." RRNMF Neuromuscular Journal 1, no. 2 (2020): 20–21. http://dx.doi.org/10.17161/rrnmf.v1i2.13585.

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Introduction: Myosin heavy chain 7 (MYH7)-related myopathies have variable clinical features and onsets and are emerging as a group of muscle diseases that affect a wide range of age groups. While individuals with (MYH7)-related myopathies will present with cardiac or skeletal involvement, it is less common to see cardiac and skeletal involvement occurring in a single individual.  Case Report: A 66-year old right-handed woman presented to the clinic for progressive ascending weakness, weight loss, and severe dysphagia. Symptoms first arose when the patient was in her 20s when

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Hashmi, Sohaib Khalid, Rachel Helen Ceron, and Robert O. Heuckeroth. "Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton." American Journal of Physiology-Gastrointestinal and Liver Physiology 320, no. 6 (2021): G919—G935. http://dx.doi.org/10.1152/ajpgi.00066.2021.

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Visceral smooth muscle is a crucial component of the walls of hollow organs like the gut, bladder, and uterus. This specialized smooth muscle has unique properties that distinguish it from other muscle types and facilitate robust dilation and contraction. Visceral myopathies are diseases where severe visceral smooth muscle dysfunction prevents efficient movement of air and nutrients through the bowel, impairs bladder emptying, and affects normal uterine contraction and relaxation, particularly during pregnancy. Disease severity exists along a spectrum. The most debilitating defects cause highl

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Shyma, M. Mundayadan, P. Sreedharan Roopchand, K. Mohan Ram, and C. Velayudhan Shaji. "Calf heads on a trophy sign: Miyoshi myopathy." Journal of Neurosciences in Rural Practice 6, no. 03 (2015): 428–30. http://dx.doi.org/10.4103/0976-3147.158798.

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ABSTRACTMiyoshi myopathy is an autosomal recessive distal myopathy with predominant involvement of the posterior calf muscles attributed to mutations in the dysferlin gene. We report a 26-year-old male, born of nonconsanginous parentage. He noticed weakness and atrophy of leg muscles with inability to walk on his heels. The creatine kinase concentration was high. The electromyography showed myopathic pattern and the muscle biopsy disclosed dystrophic changes with absence of dysferlin. Miyoshi myopathy may be distinct among the hereditary distal myopathies. There are only few reported cases of

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Mercier-Juttier, H., J. L. Novella, F. Carré-Pigeon, M. P. Chaunu, D. Gaillard, and F. Boyer. "Qualités métrologiques de l'outil de mesure Euroqol sur un échantillon de personnes myopathes." Annales de Réadaptation et de Médecine Physique 49, no. 3 (2006): 105–12. http://dx.doi.org/10.1016/j.annrmp.2006.01.007.

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Rietveld, Anke, Johan Lim, Marianne de Visser, et al. "Autoantibody testing in idiopathic inflammatory myopathies." Practical Neurology 19, no. 4 (2019): 284–94. http://dx.doi.org/10.1136/practneurol-2017-001742.

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The diagnosis and classification of idiopathic inflammatory myopathies are based mainly on clinical and histological features. The discovery of myositis-specific and myositis-associated antibodies has simplified the (sub)classification of inflammatory myopathies. Patients suspected of having an idiopathic inflammatory myopathy should undergo routine antibody testing to gain more insight into distinct phenotypes, comorbidities, treatment response and prognosis. Furthermore, autoantibody testing can help in patients with atypical patterns of weakness or with an unresolved limb-girdle myopathic p

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Scola, Rosana Herminia, Eduardo Rafael Pereira, Paulo José Lorenzoni, and Lineu César Werneck. "Toxic myopathies: muscle biopsy features." Arquivos de Neuro-Psiquiatria 65, no. 1 (2007): 82–86. http://dx.doi.org/10.1590/s0004-282x2007000100018.

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Several drugs and toxic substances can cause muscular abnormalities and are frequent causes of acquired myopathies. We present a series of 32 patients, predominance of young adult patients, diagnosed with toxic myopathy. The most common substances inducing myopathy were corticosteroids (56.2%) followed by the propoxyphene, neuroleptics, zidovudine and drug-induced hypokalemia. The investigation showed normal serum creatine kinase levels in 65.4%, myopathic pattern of the needle electromyography in 40% and the more frequent histological diagnosis of the muscle biopsy was type 2 fiber atrophy (5

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Parks, A., J. Karamchandani, Y. Troyanov, R. Massie, and EK O’Ferrall. "GP.03 Diagnostic yield of next generation sequencing and myositis autoantibody panels in patients with axial myopathy." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 46, s1 (2019): S6. http://dx.doi.org/10.1017/cjn.2019.79.

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Background: Axial myopathy is a rare neuromuscular disorder of variable etiology characterised by preferential involvement of the paraspinal muscles. We reviewed clinical features of patients with axial myopathies and the diagnostic yield of myositis-associated antibodies and targeted next generation sequencing panels. Methods: We performed a retrospective review of patients presenting with axial myopathy at the Montreal Neurological Hospital from 2011-2018. Data collection included clinical presentation, disease course, results of electromyography, imaging, laboratory and genetic testing, and

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Akbar, Shalla, Sandhya Dasaraju, and Osama Elkadi. "A Case of Immune-Mediated Necrotizing Myopathy With Associated Skeletal Muscle Involvement by Sarcoid Granulomata: A Rare Association." American Journal of Clinical Pathology 152, Supplement_1 (2019): S69. http://dx.doi.org/10.1093/ajcp/aqz113.078.

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Abstract Skeletal muscle involvement by noncaseating granulomata occurs in a variety of conditions, including sarcoidosis, infections, and rarely in association with primary inflammatory myopathies such as inclusion body myositis (IBM) and dermatomyositis (DM). Sarcoid myopathy is typically asymptomatic; however, a picture of acute myositis with proximal muscle weakness has been described. Immune-mediated necrotizing myopathy (IMNM) is a subgroup of inflammatory myopathies typically presenting with proximal muscle weakness and markedly elevated muscle enzymes, mostly occurring in the setting o

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Lilleker, James B., Yann Shern Keh, Federico Roncaroli, Reena Sharma, and Mark Roberts. "Metabolic myopathies: a practical approach." Practical Neurology 18, no. 1 (2017): 14–26. http://dx.doi.org/10.1136/practneurol-2017-001708.

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Metabolic myopathies are a diverse group of rare genetic disorders and their associated muscle symptoms may be subtle. Patients may present with indolent myopathic features, exercise intolerance or recurrent rhabdomyolysis. Diagnostic delays are common and clinicians need a high index of suspicion to recognise and differentiate metabolic myopathies from other conditions that present in a similar fashion. Standard laboratory tests may be normal or non-specific, particularly between symptomatic episodes. Targeted enzyme activity measurement and next-generation genetic sequencing are increasingly

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Bodoki, Levente, Melinda Vincze, Tibor Hortobágyi, et al. "Necrotizing autoimmune myopathy." Orvosi Hetilap 153, no. 38 (2012): 1502–7. http://dx.doi.org/10.1556/oh.2012.29450.

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Idiopathic inflammatory myopathies are systemic autoimmune diseases characterized by symmetrical proximal muscle weakness. One of them is the subgroup of necrotizing autoimmune myopathy, which has recently been recognized as a separate entity. In addition to the typical symmetrical muscle weakness, it is characterized by very high creatine kinase levels, myopathic triad in the electromyography, and myocyte necrosis without significant inflammation. The paper aims to review this rare entity, which has to be diagnosed and treated quickly in every case. Orv. Hetil., 2012, 153, 1502–1507.

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Soares, Cristiane N., Marcos R. G. de Freitas, Osvaldo J. M. Nascimento, Lenilda Ferreira da Silva, Andréa R. de Freitas, and Lineu C. Werneck. "Myopathy of distal lower limbs: the clinical variant of Miyoshi." Arquivos de Neuro-Psiquiatria 61, no. 4 (2003): 946–49. http://dx.doi.org/10.1590/s0004-282x2003000600011.

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Miyoshi distal dystrophy is a rare myopathy characterized by an autosomal recessive pattern of inheritance and it is prevalent in Japan. Onset of disease is in early adult life with weakness and atrophy of the leg muscles. Recently gene linkage to chromosome 2p12-14 has been established. We report three sisters, born of consanguineous parents. All of them noticed weakness and atrophy of leg muscles, and could not walk on their heels. In all of them the creatine kinase concentrations were very high. The electromyography showed myopathic patterns and the muscle biopsy disclosed dystrophic change

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Lehmann Urban, Diana, Mohamed Mohamed, Albert C. Ludolph, Jan Kassubek, and Angela Rosenbohm. "The value of qualitative muscle MRI in the diagnostic procedures of myopathies: a biopsy-controlled study in 191 patients." Therapeutic Advances in Neurological Disorders 14 (January 2021): 175628642098525. http://dx.doi.org/10.1177/1756286420985256.

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Background and aims: The role of muscle magnetic resonance imaging (MRI) in the diagnostic procedures of myopathies is still controversially discussed. The current study was designed to analyze the status of qualitative muscle MRI, electromyography (EMG), and muscle biopsy in different cases of clinically suspected myopathy. Methods: A total of 191 patients (male: n = 112, female: n = 79) with suspected myopathy who all received muscle MRI, EMG, and muscle biopsy for diagnostic reasons were studied, with the same location of biopsy and muscle MRI (either upper or lower extremities or paraverte

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D’Antona, Giuseppe, Seyed Mohammad Nabavi, Piero Micheletti та ін. "Creatine, L-Carnitine, andω3 Polyunsaturated Fatty Acid Supplementation from Healthy to Diseased Skeletal Muscle". BioMed Research International 2014 (2014): 1–16. http://dx.doi.org/10.1155/2014/613890.

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Myopathies are chronic degenerative pathologies that induce the deterioration of the structure and function of skeletal muscle. So far a definitive therapy has not yet been developed and the main aim of myopathy treatment is to slow the progression of the disease. Current nonpharmacological therapies include rehabilitation, ventilator assistance, and nutritional supplements, all of which aim to delay the onset of the disease and relieve its symptoms. Besides an adequate diet, nutritional supplements could play an important role in the treatment of myopathic patients. Here we review the most re

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Saito, Yoshihiko, Atsuko Nishikawa, Aritoshi Iida, et al. "ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features." Neurology 95, no. 11 (2020): e1500-e1511. http://dx.doi.org/10.1212/wnl.0000000000010237.

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ObjectiveTo elucidate the prevalence of Japanese ADSSL1 myopathy and determine the clinicopathologic features of the disease.MethodsWe searched for ADSSL1 variants in myopathic patients from January 1978 to March 2019 in our repository and assessed the clinicopathologic features of patients with variants.ResultsWe identified 63 patients from 59 families with biallelic variants of ADSSL1. Among the 7 distinct variants identified, c.781G>A and c.919delA accounted for 53.2% and 40.5% of alleles, respectively, suggesting the presence of common founders, while the other 5 were novel. Most of the

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Zochodne, Douglas. "Myopathies in the Intensive Care Unit." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 25, S1 (1998): S40—S42. http://dx.doi.org/10.1017/s0317167100034727.

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AbstractMyopathies that occur in the intensive care unit can be divided into preexisting myopathies or newly acquired myopathies that develop in the intensive care unit. Myotonic dystrophy is an example of a preexisting myopathy that may render patients susceptible to acute respiratory failure following surgical procedures and anaesthesia. A group of myopathies that develop within the intensive care unit have been labelled acute necrotizing myopathy of intensive care, thick filament myopathy and acute steroid myopathy. Corticosteroids and nondepolarizing muscle blocking agents may play a role

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Zagidullina, K. L., N. A. Popova, and Yu V. Filippova. "A rare form of metabolic myopathy in a neurologist’s practice." Kazan medical journal 97, no. 6 (2016): 978–81. http://dx.doi.org/10.17750/kmj2016-978.

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Secondary metabolic myopathies develop in endocrine pathologies, different somatic diseases, electrolyte disorders and in some vitamin deficiency. Myopathic syndrome caused by vitamin D deficit is a rear pathologic condition, for this reason it is difficult to diagnose it. Proper diagnosis has a vital importance for proper treatment choice. The article describes a rear form of the metabolic myopathy in a young female admitted to the neurology department because of significant leg weakness. A thorough examination revealed no pathology of internal organs. On physical examination moderate lower f

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Boyer, F., J. L. Novella, J. M. Coulon, et al. "Les aidants familiaux des personnes myopathes : liaisons entre charge de soins, qualité de vie et santé mentale." Annales de Réadaptation et de Médecine Physique 49, no. 1 (2006): 16–22. http://dx.doi.org/10.1016/j.annrmp.2005.08.001.

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McKerrell, R. E., and K. G. Braund. "Hereditary Myopathy in Labrador Retrievers: A Morphologic Study." Veterinary Pathology 23, no. 4 (1986): 411–17. http://dx.doi.org/10.1177/030098588602300410.

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Skeletal muscle and peripheral nerve were obtained over several years from 12 Labrador retrievers with signs of hereditary myopathy. Biopsy and necropsy samples were examined by histology and histochemistry. Despite normal findings in peripheral nerves, a wide range of morphologic changes were observed in muscle including features generally considered characteristic of neurogenic disease. These included small and large muscle fiber group atrophy, presence of small angular fibers, and occasional fiber type grouping. Other prominent changes in muscle were increased numbers of internal nuclei, ar

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Evangelista, Teresinha, Xavière Lornage, Pierre G. Carlier, et al. "A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers." Journal of Neuropathology & Experimental Neurology 79, no. 8 (2020): 908–14. http://dx.doi.org/10.1093/jnen/nlaa052.

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Abstract Autosomal dominant pathogenic variants in the filamin C gene (FLNC) have been associated with myofibrillar myopathies, distal myopathies, and isolated cardiomyopathies. Mutations in different functional domains of FLNC can cause various clinical phenotypes. A novel heterozygous missense variant c.608G&gt;A, p.(Cys203Tyr) in the actin binding domain of FLCN was found to cause an upper limb distal myopathy (MIM #614065). The muscle MRI findings are similar to those observed in FLNC-myofibrillar myopathy (MIM #609524). However, the muscle biopsy revealed &gt;20% of muscle fibers

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Diniz, Gulden, Yaprak Secil, Serdar Ceylaner, et al. "GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation." Case Reports in Neurological Medicine 2016 (2016): 1–4. http://dx.doi.org/10.1155/2016/8647645.

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Background. Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age.Methods and Results. In this study, we present two Turkish sisters with progressive myopathy and describe a novel mutation in the GNE gene. Both sisters had slightly higher levels of creatine kinase (CK) and muscle weakness. The older sister presented at 38 years of age with an inability to climb steps, weakness, and a steppage gait. Her younger sister was 36 years old and had similar symptoms. The first symptoms of the

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Sgobbi de Souza, Paulo Victor, Bruno de Mattos Lombardi Badia, Eduardo Augusto Gonçalves, Igor Braga Farias, Wladimir Bocca Vieira de Rezende Pinto, and Acary Souza Bulle Oliveira. "Hereditary inclusion body myopathy: a clinical and genetic review." Revista Neurociências 28 (July 24, 2020): 1–23. http://dx.doi.org/10.34024/rnc.2020.v28.10569.

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Introduction. Inclusion body myositis represents the most common acquired myopathy in clinical practice in patients over 50 years old. Despite classical approach to this myopathy as an inflammatory disorder, a muscle degenerative disorder is now considered the main mechanism linked to these vacuolar myopathies. Hereditary presentations, although quite rare, represent an expanding and underrecognized group in clinical practice. Objective. perform a structured review of the current literature regarding hereditary inclusion body myopathies. Method. review of U.S. NLM PubMed and MEDLINE database o

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Tarnopolsky, Mark A., Erin Hatcher, and Rachel Shupak. "Genetic Myopathies Initially Diagnosed and Treated as Inflammatory Myopathy." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 43, no. 3 (2016): 381–84. http://dx.doi.org/10.1017/cjn.2015.386.

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AbstractObjectives: Differentiating genetic myopathies from inflammatory myopathies can be challenging because of multiple overlapping clinical features. Examples are presented to highlight important clinical features that assist in the differentiation between the two. Methods: Clinical features including age at onset, history, pattern of weakness, serum creatine kinase activity, electromyography findings, and muscle biopsies are reported in six patients initially thought to have an inflammatory myopathy in whom the final diagnosis was a genetic myopathy. Results: All six patients met Bohan an

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Al-Ghamdi, Fouad, Basil T. Darras, and Partha S. Ghosh. "Spectrum of Neuromuscular Disorders With HyperCKemia From a Tertiary Care Pediatric Neuromuscular Center." Journal of Child Neurology 33, no. 6 (2018): 389–96. http://dx.doi.org/10.1177/0883073818758455.

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Elevated creatine kinase is a useful screening test in the diagnostic workup of patients with neuromuscular disorders. We did a retrospective study of children with hyperCKemia (>175 IU/L) who were followed in the neuromuscular program of a tertiary care pediatric center from 2005 to 2016. Patients with hyperCKemia were divided into 2 groups: myopathic and nonmyopathic. Within the myopathic group, there were 3 arbitrary subgroups based on creatine kinase values: A (creatine kinase >10 times normal), B (creatine kinase 5-10 times normal), and C (creatine kinase 1-5 times normal). The 3 ma

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Babić Božović, Ivana, Aleš Maver, Lea Leonardis, Marija Meznaric, Damjan Osredkar, and Borut Peterlin. "Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre." PLOS ONE 16, no. 6 (2021): e0252953. http://dx.doi.org/10.1371/journal.pone.0252953.

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Background Our aim was to present the experience of systematic, routine use of next generation sequencing (NGS) in clinical diagnostics of myopathies. Methods Exome sequencing was performed on patients with high risk for inherited myopathy, which were selected based on the history of the disease, family history, clinical presentation, and diagnostic workup. Exome target capture was performed, followed by sequencing on HiSeq 2500 or MiSeq platforms. Data analysis was performed using internally developed bioinformatic pipeline. Results The study comprised 86 patients, including 22 paediatric cas

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Pestronk, Alan. "Chronic Graft Versus Host Myopathies: Noninflammatory, Multi-Tissue Pathology With Glycosylation Disorders." Journal of Neuropathology & Experimental Neurology 79, no. 1 (2019): 102–12. http://dx.doi.org/10.1093/jnen/nlz111.

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Abstract Myopathies during chronic graft-versus-host disease (cGvHD) are syndromes for which tissue targets and mechanisms of muscle damage remain incompletely defined. This study reviewed, and pathologically analyzed, 14 cGvHD myopathies, comparing myopathology to other immune myopathies. Clinical features in cGvHD myopathy included symmetric, proximal weakness, associated skin, gastrointestinal and lung disorders, a high serum aldolase (77%), and a 38% 2-year survival. Muscle showed noninflammatory pathology involving all 3 tissue components. Perimysial connective tissue had damaged structur

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Chu, Eric Chun-Pu, Arnold Yu-Lok Wong, and Andy Fu-Chieh Lin. "Isolated Neck Extensor Myopathy Associated With Cervical Spondylosis: A Case Report and Brief Review." Clinical Medicine Insights: Arthritis and Musculoskeletal Disorders 13 (January 2020): 117954412097784. http://dx.doi.org/10.1177/1179544120977844.

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Dropped head syndrome (DHS) is manifested as the inability to maintain the head in an upright posture. It has been associated with a wide spectrum of myopathies and neurological conditions. Isolated neck extensor myopathy (INEM) is one of many potential causes of DHS. This is a case report of a 72-year-old man who presented with degenerative cervical spondylosis and DHS for 2 years. He had previously failed to achieve a positive outcome to medication, cervical collar and exercise rehabilitation. However, he was able to regain his voluntary head control after a 4-month chiropractic program. It

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Sebők, Ágnes, Endre Pál, Gergő Attila Molnár, et al. "Rhabdomyolysis – Mikor vessük fel metabolikus myopathia lehetőségét? Esetismertetés és diagnosztikus algoritmus." Orvosi Hetilap 158, no. 47 (2017): 1873–82. http://dx.doi.org/10.1556/650.2017.30923.

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Abstract: We report the case of a 46-year-old female patient with recurrent rhabdomyolysis. In the background of her metabolic myopathy an inherited metabolic disorder of the fatty acid oxidation, very long-chain acyl-coenzyme A-dehydrogenase deficiency was diagnosed. The diagnosis was based on abnormal acyl-carnitine- and urine organic-acid profile in addition to low residual enzyme activity, and was confirmed by genetic testing. After introduction of dietotherapy metabolic crisis necessitating hospital admission has not occurred neither have fixed myopathic changes developed. We present here

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Rees, Martin, Roksana Nikoopour, Atsushi Fukuzawa, et al. "Making sense of missense variants in TTN-related congenital myopathies." Acta Neuropathologica 141, no. 3 (2021): 431–53. http://dx.doi.org/10.1007/s00401-020-02257-0.

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AbstractMutations in the sarcomeric protein titin, encoded by TTN, are emerging as a common cause of myopathies. The diagnosis of a TTN-related myopathy is, however, often not straightforward due to clinico-pathological overlap with other myopathies and the prevalence of TTN variants in control populations. Here, we present a combined clinico-pathological, genetic and biophysical approach to the diagnosis of TTN-related myopathies and the pathogenicity ascertainment of TTN missense variants. We identified 30 patients with a primary TTN-related congenital myopathy (CM) and two truncating varian

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Akuamoah-Boateng, Gloria, Raymond C. Stetson, Bethany D. Kaemingk, David A. Bieber, and Jane E. Brumbaugh. "Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant." American Journal of Perinatology Reports 11, no. 02 (2021): e91-e94. http://dx.doi.org/10.1055/s-0041-1728782.

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AbstractCongenital myopathies, such as nemaline myopathy, may present with hypotonia and respiratory failure in the neonatal period. Respiratory function can be further compromised in affected infants by the development of chylous effusions. We present the case of a preterm male infant born at 326/7 weeks' gestation, who was profoundly hypotonic and required intubation at birth. His clinical course progressed from acute to chronic respiratory failure with mechanical ventilation dependence. He developed bilateral chylous pleural effusions during the newborn period. Whole exome sequencing identi

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Karunaratne, Kushan, Charles Wade, Jan Lehovsky, and Stuart Viegas. "Spinal surgery for a late-onset axial myopathy." BMJ Case Reports 14, no. 3 (2021): e240738. http://dx.doi.org/10.1136/bcr-2020-240738.

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Axial myopathies with paraspinal predominance usually present with dropped head, abnormal posture or rigidity of the spine. Management of axial myopathy can be difficult and there is little data in the literature about surgical treatment. We discuss a case of axial myopathy with late-onset scoliosis and dropped head, focusing on the surgical management of the case.

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Kazakov, A. S., M. A. Darmostukova, T. M. Bukatina, I. I. Snegireva, V. K. Lepakhin, and K. E. Zatolochina. "MYOPATHY CAUSED BY THE INTERACTION OF COLCHICINE AND STATINS." Safety and Risk of Pharmacotherapy 6, no. 3 (2018): 118–22. http://dx.doi.org/10.30895/2312-7821-2018-6-3-118-122.

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Myopathy is a life-threatening disease that can be caused, among other things, by the intake of various medications. Despite the fact that many drug-induced myopathies are well known, however, many health professionals are not alert to myopathies caused by drug interactions. Myopathy is a wellknown adverse reaction of statins, and muscle damage can range from minor muscle pain and weakness to life-threatening rhabdomyolysis. Colchicine can also cause myopathy, including rhabdomyolysis. The combination of colchicine and statins can significantly increase the risk of myopathy compared with their

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Adinugraha, Rangga. "MIOPATI KONGENITAL PADA BAYI: SEBUAH LAPORAN KASUS." Berkala Ilmiah Kedokteran Duta Wacana 4, no. 1 (2019): 1. http://dx.doi.org/10.21460/bikdw.v4i1.119.

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Background: The congenital myopathies are group of genetic muscle disorders with a prevalence estimated between 1:22,480 in Sweden and 1:135,000 in Northern England. The most severe forms of congenital myopathy present In infant is the floppy infant with hypotonia and generalized musle weakness, and a frog leg posture, with facial, bulbar and respiratory weakness. We will provide an approach to the diagnosis of congenital myopathies with clinical examination, muscle imaging (MRI), muscle biopsy and identifying the genetic basis. Management of congenital myopathy are treatment of symptoms and c

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Corallo, Claudio, Maurizio Cutolo, Nila Volpi, et al. "Histopathological findings in systemic sclerosis-related myopathy: fibrosis and microangiopathy with lack of cellular inflammation." Therapeutic Advances in Musculoskeletal Disease 9, no. 1 (2016): 3–10. http://dx.doi.org/10.1177/1759720x16671928.

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Objectives: The objective of this study was to identify specific histopathological features of skeletal muscle involvement in systemic sclerosis (SSc) patients. Methods: A total of 35 out of 112 SSc-patients (32%, including 81% female and 68% diffuse scleroderma) presenting clinical, biological and electromyographic (EMG) features of muscle weakness, were included. Patients underwent vastus lateralis biopsy, assessed for individual pathologic features including fibrosis [type I collagen (Coll-I), transforming growth factor β (TGF-β)], microangiopathy [cluster of differentiation 31 (CD31), pro-

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de Winter, Josine M., Charlotte Gineste, Elisa Minardi, et al. "Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice." Human Molecular Genetics 30, no. 14 (2021): 1305–20. http://dx.doi.org/10.1093/hmg/ddab112.

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Abstract Nemaline myopathy, a disease of the actin-based thin filament, is one of the most frequent congenital myopathies. To date, no specific therapy is available to treat muscle weakness in nemaline myopathy. We tested the ability of tirasemtiv, a fast skeletal troponin activator that targets the thin filament, to augment muscle force—both in vivo and in vitro—in a nemaline myopathy mouse model with a mutation (H40Y) in Acta1. In Acta1H40Y mice, treatment with tirasemtiv increased the force response of muscles to submaximal stimulation frequencies. This resulted in a reduced energetic cost

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Wallgren-Pettersson, Carina. "Nemaline myopathy and the myotubular myopathies." Neuromuscular Disorders 7, no. 6-7 (1997): 427. http://dx.doi.org/10.1016/s0960-8966(97)87162-3.

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Takkar, Aastha, Julie Sachdeva, Nikhil Vojjala, and Vivek Lal. "Myoedema with pseudohypertrophic hypothyroid myopathy (Hoffman’s syndrome)." Practical Neurology 21, no. 4 (2021): 360–62. http://dx.doi.org/10.1136/practneurol-2020-002898.

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Myoedema is an under-recognised neurological sign that can help the bedside diagnosis of metabolic or endocrine myopathies. Myoedema together with pseudo-hypertrophy make a likely diagnosis of hypothyroid myopathy, and its identification may avoid unnecessary investigations.

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Valentine, B. A., and B. J. Cooper. "Incidence of Polysaccharide Storage Myopathy: Necropsy Study of 225 Horses." Veterinary Pathology 42, no. 6 (2005): 823–27. http://dx.doi.org/10.1354/vp.42-6-823.

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Muscle samples were obtained at necropsy from 225 horses and ponies 1 year of age or older. Samples were processed in routine manner and were stained with hematoxylin and eosin and with periodic acid-Schiff for glycogen. Sections were examined for abnormal glycogen content and amylase- resistant complex polysaccharide and for chronic myopathic change (excessive fiber size variation, increase in number of internal nuclei). A total of 101 horses and ponies with lesions of polysaccharide storage myopathy were identified. Age of affected horses ranged from one to 30 years, with a mean of 14.7 year

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Caetano, Marcelo R., Analucia A. Maranhão, Eduardo M. Peixoto, Alexandre H. Alamy, Ana Paula Casseta, and Julio C. Rodrigues Filho. "Diaphragm quantitative electromyography in difficult-to-treat asthmatic patients." Arquivos de Neuro-Psiquiatria 77, no. 8 (2019): 550–54. http://dx.doi.org/10.1590/0004-282x20190085.

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ABSTRACT Quantitative electromyography is an important tool to evaluate myopathies, and some difficult-to-treat asthmatic patients may have a subclinical corticosteroid myopathic process, using only inhaled corticosteroid, according to some studies. In this report, diaphragm quantitative electromyography was used to evaluate asthmatic difficult-to-treat patients, comparing them with a control group. Significant differences were obtained in amplitude, duration and size index of motor unit action potentials, with lower parameters in the asthmatic patients, which may indicate a myopathic process.

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Vázquez-Fonseca, Schaefer, Navas-Enamorado, et al. "ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency." Journal of Clinical Medicine 8, no. 9 (2019): 1374. http://dx.doi.org/10.3390/jcm8091374.

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Fatty acids and glucose are the main bioenergetic substrates in mammals. Impairment of mitochondrial fatty acid oxidation causes mitochondrial myopathy leading to decreased physical performance. Here, we report that haploinsufficiency of ADCK2, a member of the aarF domain-containing mitochondrial protein kinase family, in human is associated with liver dysfunction and severe mitochondrial myopathy with lipid droplets in skeletal muscle. In order to better understand the etiology of this rare disorder, we generated a heterozygous Adck2 knockout mouse model to perform in vivo and cellular studie

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Almalki, Daifallah, and Abdulrahman Ali. "Rare Genetic Variant of Distal Myopathy with Posterior Leg and Anterior Hand Involvement: Case Report." Open Neurology Journal 14, no. 1 (2020): 93–94. http://dx.doi.org/10.2174/1874205x02014010093.

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Distal myopathies are a heterogeneous group of genetic muscle disorders characterized by weakness of distal muscle groups of the upper and lower extremities. The various types of distal myopathies can be clinically differentiated based on age at onset, pattern of muscle involvement, disease severity, and the mode of inheritance. We described a case of slowly progressive muscle weakness that involved one of the patients’ hand and posterior leg muscles. Her genetic study showed a rare variant that likely contributed to distal myopathy with posterior leg and anterior hand involvement (distal acti

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Jordan, B., M. Kornhuber, M. Deschauer, S. Zierz, and T. Kraya. "Myopathien." Nervenheilkunde 33, no. 10 (2014): 686–92. http://dx.doi.org/10.1055/s-0038-1627736.

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ZusammenfassungFortschritte in der molekulargenetischen Diagnostik sowie Immunologie haben in vielen Bereichen der Myopathien zu einem besseren Verständnis der Pathogenese und zur Identifizierung neuer Entitäten geführt. Im Folgenden sollen neue Erkenntnisse bei neuromuskulären Erkrankungen dargestellt werden. Die ausgewählten Themen umfassen die Gliedergürtel-Muskeldystrophien, die Antikörperdiagnostik der seronegativen Myasthenia gravis, die statininduzierte Myopathie und fazioskapulohumerale Muskeldystrophie 2 sowie die Gruppe der distalen Myopathien.

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Saikova, L. A., V. D. Kosachev, V. G. Pustozerov, Т. M. Alekseeva, Т. N. Vasilyeva, and I. G. Zavolokov. "Differential diagnosis of hypokinetic disorders in hereditary neuromuscular diseases." Neurology Bulletin XXIX, no. 1-2 (1997): 81–83. http://dx.doi.org/10.17816/nb79927.

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For determination criteria of differential diagnosis analysis of clinical manifestations and indices of additional research methods (EMG, ENMY, biochemical, histomorphological) of paroxysmal hypokinetic conditions in myoplegia, myopathic syndromes, glycogenosis and Mc Ardl syndrome in polymyositis, Eulenburg-Lewandowsky paramyotoxia, remittent form of neural amyotrophy, some forms of congenital myopathies was carried out.

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Hilton-Jones, David. "Myopathies." Reviews in Clinical Gerontology 11, no. 2 (2001): 131–47. http://dx.doi.org/10.1017/s0959259801011248.

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Myopathy is a convenient shorthand term meaning muscle disease or dysfunction. In other words, the myopathies are those conditions in which the patient’s symptoms and signs can be attributed to a pathological process affecting either the structure of muscle fibres or their associated interstitial tissues, or to disturbance of the biochemical or electrophysiological function of those fibres. Myopathies are rare in all age ranges. They may be inherited or acquired. Onset of inherited myopathies in the elderly, not surprisingly, is uncommon, but some of these diseases are asymptomatic or cause su

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Antoniel, Manuela, Francesco Traina, Luciano Merlini, et al. "Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations." Cells 9, no. 2 (2020): 409. http://dx.doi.org/10.3390/cells9020409.

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Mutations in collagen VI genes cause two major clinical myopathies, Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), and the rarer myosclerosis myopathy. In addition to congenital muscle weakness, patients affected by collagen VI-related myopathies show axial and proximal joint contractures, and distal joint hypermobility, which suggest the involvement of tendon function. To gain further insight into the role of collagen VI in human tendon structure and function, we performed ultrastructural, biochemical, and RT-PCR analysis on tendon biopsies and on cell cultures derive

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Finsterer, Josef. "Update Review about Metabolic Myopathies." Life 10, no. 4 (2020): 43. http://dx.doi.org/10.3390/life10040043.

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The aim of this review is to summarize and discuss recent findings and new insights in the etiology and phenotype of metabolic myopathies. The review relies on a systematic literature review of recent publications. Metabolic myopathies are a heterogeneous group of disorders characterized by mostly inherited defects of enzymatic pathways involved in muscle cell metabolism. Metabolic myopathies present with either permanent (fixed) or episodic abnormalities, such as weakness, wasting, exercise-intolerance, myalgia, or an increase of muscle breakdown products (creatine-kinase, myoglobin) during e

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Campo, María del Mar, Leticia Mur, Ana Guerrero, et al. "Differentiating Breast Myopathies through Color and Texture Analyses in Broiler." Foods 9, no. 6 (2020): 824. http://dx.doi.org/10.3390/foods9060824.

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Wooden breast (WB), white striping (WS) and spaghetti meat (SM) are breast myopathies of the Pectoralis major that greatly affect meat quality in broilers. To differentiate color and texture characteristics with instrumental methods, some of them applied for the first time in this species, 300 carcasses were randomly chosen from an abattoir from five different flocks from the same farm, at a rate of 60 carcasses from each flock. Twenty-four hours after slaughter, both side breasts were dissected, and yields calculated. Color was measured on the surface of the breast with a spectrocolorimeter a

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Cornblath, David R. "Maybe myopathic EMG but not myopathy." Clinical Neurophysiology 132, no. 9 (2021): 2323. http://dx.doi.org/10.1016/j.clinph.2021.06.017.

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Manfredi, Thomas G., Wenjing Ding, and Roderick Bronson. "Correlative light and transmission electron microscopy of tubular aggregates in skeletal muscle." Proceedings, annual meeting, Electron Microscopy Society of America 50, no. 1 (1992): 660–61. http://dx.doi.org/10.1017/s0424820100123702.

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Tubular aggregates (TAs) have been identified with a number of myopathies in humans. Periodic paralysis and muscle pain are frequently associated with TAs. Very little is known about the functional and anatomical significance of TAs in myopathic and aging human muscle. Recently, animal models for TAs have been identified which suggested that TAs are gender specific. However, recent studies suggest a need for more controls.

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