Equine atypical myopathy (AM also referred to as multiple acyl-CoA dehydrogenases deficiency [MADD]) is thought to be caused by toxins metabolized from hypoglycin A (HGA) and méthylènecyclopropylglycine (MCPrG). HGA is contained in the seeds and seedlings of the sycamore tree (Acer pseudoplatanus); MCPrG has so far only been confirmed in seeds. Among other things, these substances can disrupt the fatty acids β-oxidation pathway with the subsequent accumulation of certain acylcarnitines. The tentative diagnosis is based on anamnesis and clinical signs and can be verified by the detection of elevated creatine kinase activity, specific profile of acylcarnitines and the presence of HGA, MCPrG conjugates and/or their metabolites in peripheral blood and/or urine. Dry blood spots were collected for 15 days from a 3.5-year-old stallion which had been affected by AM and, as a control group, from twelve healthy horses. Two mass spectrometry methods were used for the analysis of 31 acylcarnitines, carnitine, HGA, MCPrG and their metabolites. HGA and six increased acylcarnitines were detected in the patient's blood throughout the monitoring period. Nine acylcarnitines were strongly correlated with HGA. Multivariate statistical analysis showed a clear separation of samples from the AM horse, where the metabolic profile tended to normalization in the later days after intoxication. Due to the longer persistence in the blood, the detection of HGA and elevated acylcarnitines profile appear to be an appropriate tool to confirm the diagnosis of AM, compared to metabolic products of HGA and MCPrG even in advanced cases.

• Klíčová slova
• Acer pseudoplatanus, Equine atypical myopathy, acylcarnitines, dry blood spot, hypoglycin A, mass spectrometry, multiple acyl-CoA dehydrogenases deficiency, méthylènecyclopropylglycine,
• MeSH
• acyl-CoA-dehydrogenasy * MeSH
• cyklopropany MeSH
• glycin analogy a deriváty   MeSH
• hypoglyciny MeSH
• karnitin analogy a deriváty   MeSH
• koně MeSH
• kreatinkinasa MeSH
• mastné kyseliny MeSH
• nemoci koní * diagnóza   MeSH
• nemoci svalů * diagnóza   veterinární   MeSH
• zvířata MeSH
• Check Tag
• mužské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• acyl-CoA-dehydrogenasy * MeSH
• acylcarnitine MeSH Prohlížeč
• cyklopropany MeSH
• glycin MeSH
• hypoglycin MeSH Prohlížeč
• hypoglyciny MeSH
• karnitin MeSH
• kreatinkinasa MeSH
• mastné kyseliny MeSH
• methylenecyclopropylglycine MeSH Prohlížeč

PURPOSE OF THE STUDY In this randomized prospective study, we monitored and compared perioperative changes in skeletal muscle enzymes blood levels in open and mini-invasive stabilization of thoracolumbar spine fractures. The established hypothesis was to confirm higher blood levels of muscle enzymes in open stabilization. MATERIAL AND METHODS This study included 38 patients with the mean age of 46.4 years. 19 injuries were managed in an open procedure and 19 procedures were mini-invasive. Venous blood was taken intermittently at short intervals to determine the levels of skeletal muscle enzymes. The catalytic concentration of creatine kinase was determined via an enzymatic UV-test, and the concentration of myoglobin via electro-chemiluminescent immunoassay. Enzyme levels were processed statistically. The Wilcoxon test was used. RESULTS The median increase in the values of both enzymes is higher in the mini-invasive method than in the open method in both the surgery phase for the injury and in the extraction phase. The median increase in the values of both enzymes is higher in both methods for the primary procedure phase compared to the extraction phase. All results are statistically significant at p of <0.05. All tests were calculated using the MATLAB Statistics Toolbox. DISCUSSION A very surprising finding, when testing the hypothesis of the levels increasing mainly in open stabilization, was confirming the opposite. Both enzymes were higher in the mini-invasive approach to stabilising the spine after the injury, but also after the extraction. This contradicts the available literature. However, this can be explained by the methodology of enzyme levels determination in the previously published studies. We believe that this phenomenon can be partially caused by an iatrogenic mini-compartment of muscles in the postoperative period, absence of wound drainage, but also by higher muscle contusion when inserting bolts through the tubes via small incisions, when the tubes penetrate to the entry points relatively violently and the muscles in this area are affected more than in the classical skeletization. CONCLUSIONS Analysis of biochemical changes in open and mini-invasive surgery did not confirm the hypothesis that levels of creatine kinase and myoglobin enzymes increase especially in open stabilization. On the contrary, they were statistically significantly higher in mini-invasive procedures. Key words: creatine kinase, myoglobin, muscle enzymes, spine fracture, spine surgery, miniinvasive surgery.

• MeSH
• bederní obratle MeSH
• fraktury páteře * komplikace   chirurgie   MeSH
• hrudní obratle MeSH
• kreatinkinasa * metabolismus   MeSH
• lidé středního věku MeSH
• lidé MeSH
• miniinvazivní chirurgické výkony MeSH
• myoglobin * metabolismus   MeSH
• nemoci svalů * diagnóza   etiologie   MeSH
• prospektivní studie MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• kreatinkinasa * MeSH
• myoglobin * MeSH

The case of atypical myopathy (AM) in newborn Haflinger foal with clinical signs of depression and weakness appearing 6 hours after birth resulting in recumbency 12 hours after birth is described. The foal's dam was diagnosed with AM in the 6th month of gestation based on clinical signs of a myopathy, elevated serum activity of creatine kinase, metabolomic analysis and the presence of methylenecyclopropyl acetyl carnitine (MCPA-carnitine) in the blood. At the time of delivery, the mare was grazing on a pasture near sycamore trees but was free of clinical signs of AM. Metabolomic analysis of the foal's blood revealed increased concentrations of acylcarnitines and MCPA-carnitine consistent with metabolic profiles of blood from AM affected horses. Two theories could explain this observation (a) hypoglycin A or its metabolites accumulated in the mare's placenta with consequent transfer to fetus or (b) these compounds were secreted into mare's milk.

• Klíčová slova
• acylcarnitines, hypoglycin A, metabolomics, methylenecyclopropyl acetyl carnitine, multiple acyl-coenzyme A dehydrogenase deficiency,
• MeSH
• genetická predispozice k nemoci MeSH
• karnitin analogy a deriváty   krev   MeSH
• koně MeSH
• nemoci koní diagnóza   patologie   MeSH
• nemoci svalů diagnóza   veterinární   MeSH
• novorozená zvířata * MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• karnitin MeSH

Waldenströms macroglobulinemia which was manifested by muscle pain and anemia. The female patient had suffered from back pain for about 3 years before she came to our clinic. In the last year pain in the muscles of the upper and lower extremities developed in addition to back pain. This led to the suspicion of polymyositis. However this was not confirmed by a special examination. The patient was diagnosed with clearly established infiltration of lympho-plasmacytic lymphoma and 10.8 g/l of type IgM monoclonal immunoglobulin in the bone marrow. Serum myoglobin levels and serum CK activity were repeatedly significantly increased. Therefore the treatment with anti-CD20 monoclonal antibody (Mabthera) 375 mg/m2 i. v. was started, administered once a month, with cyclophosphamide 500 mg/m2 i. v. on days 1 and 15 of a 28-day cycle, and dexamethasone 20 mg from 1st through to 4th days and 15th through to 18th days of the treatment cycle. There were 8 cycles planned. Already after a 5th cycle, the disappearance of monoclonal immunoglobulin (negative immunofixation), normalisation of myoglobin and CK values and significant relief from muscle pain were achieved. The hemoglobin concentrations before treatment were significantly reduced, while they were normalised after treatment. After 5 cycles, the complete remission of Waldenströms disease was reached according to biochemical parameters, and normalisation of the serum myoglobin and creatine kinase levels was achieved.

• MeSH
• anemie diagnóza   farmakoterapie   imunologie   MeSH
• autoimunitní nemoci diagnóza   farmakoterapie   imunologie   MeSH
• imunoglobulin M krev   MeSH
• kreatinkinasa krev   MeSH
• lidé středního věku MeSH
• lidé MeSH
• monoklonální protilátky krev   MeSH
• myalgie diagnóza   farmakoterapie   imunologie   MeSH
• myoglobin krev   MeSH
• nemoci svalů diagnóza   farmakoterapie   imunologie   MeSH
• rituximab terapeutické užití   MeSH
• senioři MeSH
• Waldenströmova makroglobulinemie diagnóza   farmakoterapie   imunologie   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• přehledy MeSH
• Názvy látek
• imunoglobulin M MeSH
• kreatinkinasa MeSH
• monoklonální protilátky MeSH
• myoglobin MeSH
• rituximab MeSH

Establishing the correct etiological diagnosis of autophagic vacuolar myopathies (AVM) is an imperative since the recent availability of the enzyme replacement therapy for the treatment of Pompe disease. Recent recognition of the complex functional pathology of these disorders dramatically changed the view on their pathogenesis and it may lead to identification of new approaches in the therapy. Muscle biopsy is a useful tool for the differential diagnosis of the AVM; however, in some cases it may fail. Through a series of five short case studies we aim at demonstrating the histopathological findings and differential diagnosis of some AVM (Pompe disease, Danon disease and chloroquine myopathy) in muscle biopsy. We also want to address the fact that the way to the correct diagnosis of these disorders can be quite complicated. Awareness of these diseases and the availability of a dry blood spot test for the non-invasive diagnosis of Pompe disease represent a good basis for detecting patients who are still kept under other diagnoses and thus escaping treatment.

• MeSH
• autofagie MeSH
• biopsie MeSH
• diferenciální diagnóza * MeSH
• glykogenóza typu II diagnóza   MeSH
• glykogenóza typu IIb diagnóza   MeSH
• kosterní svaly patologie   MeSH
• lidé MeSH
• lyzozomální nemoci z ukládání diagnóza   MeSH
• nemoci svalů diagnóza   MeSH
• vakuoly patologie   MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

Statins are the most effective drugs for reducing LDL-cholesterol and have strong evidence based medicine documented by significant reduction of cardiovascular events in wide variety of patients. Despite this fact, they are still underused in common clinical practice. Many physicians have expressed concern about potential adverse effects, particularly severe muscle toxicity, which is an impediment to appropriate statin use. The clinical symptoms of statin myopathy include myalgia or muscle weakness, tiredness, cramps and/or creatinkinase activity increases (CK). Because hypercholesterolaemia is usually asymptomatic, any unwanted effect of drug used for its management can undermine adherence. Therefore it is very important to evaluate myopathy magnitude, prompt and rational individual management, and if applicable, restart of lipid-lowering therapy as soon as possible with regard to its type, dose and concomitant treatment.

• MeSH
• lidé MeSH
• nemoci svalů chemicky indukované   diagnóza   terapie   MeSH
• rizikové faktory MeSH
• statiny škodlivé účinky   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• statiny MeSH

Granulomatous myopathies are extremely rare. The finding of epithelioid granulomas in muscle biopsy indicates mostly an involvement of the skeletal muscle in systemic sarcoidosis. In this report we provide description of five patients with previously diagnosed sarcoidosis (pulmonary or cutaneous), in which a clinically significant muscle weakness developed. We aim at demonstrating the value of muscle biopsy for further treatment of the patients, since clinically indistinguishable myopathies can arise not due to the involvement of muscles in the granulomatous process, but due to the corticosteroid-induced changes (chronic steroid myopathy). The demonstration of a selective atrophy of type II muscle fibers can provide the clue for distinguishing the patients, in which the corticosteroid treatment should continue, from those, in which the treatment should be modified. Further, we discuss a rare finding of granulomas in muscle biopsies of two patients with myasthenia gravis (MG) associated with thymoma. Although it is difficult to explain the pathogenesis of this event, MG should be considered in the differential diagnosis of granulomatous myopathies. Moreover, the finding of granulomas along with lymphocytic infiltration in MG muscle should lead to a search for an underlying thymic neoplasm.

• MeSH
• dospělí MeSH
• granulom komplikace   diagnóza   patologie   MeSH
• jehlová biopsie MeSH
• kosterní svaly patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• myasthenia gravis komplikace   diagnóza   patologie   MeSH
• nemoci svalů komplikace   diagnóza   patologie   MeSH
• sarkoidóza komplikace   patologie   MeSH
• senioři MeSH
• svalová vlákna typu II patologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• práce podpořená grantem MeSH

OBJECTIVE: To evaluate the spectrum and time profile of electrophysiological parameters in the detection of neuromuscular involvement in critically ill patients and establish their correlation with biopsy findings. DESIGN: Prospective clinical and neurophysiological study. SETTING: One general and one neurological intensive care unit in a university hospital. PATIENTS: Forty-six critically ill patients with failure of at least two organ systems were enrolled and completed the 1-month follow up. INTERVENTIONS: Detailed clinical and electrophysiological evaluation including direct muscle stimulation was performed in all cases on entry and at the end of the follow-up. Muscle biopsy was performed in 11, and sural nerve biopsy in 5, cases. MEASUREMENTS AND RESULTS: Electrophysiological signs of new or progressing neuromuscular involvement at the end of the first month were detected in 26 patients (56%) and could be classified into three groups: "pure motor syndrome" (12 cases), combined motor syndrome and sensory polyneuropathy (13 cases) and isolated sensory polyneuropathy (1 case). Direct muscle stimulation showed decreased muscle membrane excitability in 11 of these abnormal cases. Muscle biopsy disclosed various myopathic abnormalities in all 11 cases examined with motor syndrome, in 7 of them in association with denervation/re-innervation changes. CONCLUSIONS: Electrophysiological and histological examinations showed significant overlapping of several pathogenic components of neuromuscular involvement in critically ill patients, namely decreased muscle excitability, myopathy, axonal motor neuropathy and sensory neuropathy. The characterisation of the electrophysiological components of a complex polyneuromyopathy is preferred to the strict categorisation of abnormalities into critical illness myopathy and polyneuropathy.

• MeSH
• dospělí MeSH
• elektromyografie * MeSH
• kohortové studie MeSH
• kosterní svaly patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• longitudinální studie MeSH
• multiorgánové selhání komplikace   diagnóza   MeSH
• následné studie MeSH
• nemoci svalů komplikace   diagnóza   MeSH
• nervus suralis patologie   MeSH
• polyneuropatie komplikace   diagnóza   patologie   MeSH
• prospektivní studie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• klinické zkoušky MeSH
• práce podpořená grantem MeSH

This article describes three cases of undiagnosed hypothyroidism in a developed stage which manifest themselves with myopathic syndrome (myalgia, muscular fatigue, and higher serum levels of creatine kinase, aminotranferases, and lactate dehydrogenase) without the "classic" symptoms of hypothyroidism. In addition, two of the three patients were receiving hypolipidemic drugs for secondary hyperlipoproteinemia, which could have affected the development of the myopathy. Emphasis is placed on the description of atypical symptoms of hypothyroidism and the necessity of endocrinological examination in each case of myopathy with indefinite etiology.

• MeSH
• hypolipidemika škodlivé účinky   terapeutické užití   MeSH
• hypotyreóza komplikace   diagnóza   MeSH
• lidé středního věku MeSH
• lidé MeSH
• nemoci svalů diagnóza   etiologie   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• dopisy MeSH
• kazuistiky MeSH
• Názvy látek
• hypolipidemika MeSH

Introduction of nuclear magnetic resonance has enabled direct measurements of muscle metabolism in vitro and in vivo. In the presented paper some theoretical and practical applications mainly 31P NMR spectroscopy in research and diagnostics of muscle skeletal diseases are given. In spite of some limitations, the most important advantage of NMR technique is its non-destructive character, the possibility of simultaneous observation of several phosphorylated metabolites in a muscle tissue and the simple method of sample preparation. 31P NMR is a useful tool for studying and detection of muscle diseases and at the same time for its safety for patients.

• MeSH
• kosterní svaly metabolismus   MeSH
• lidé MeSH
• magnetická rezonanční spektroskopie * MeSH
• nemoci svalů diagnóza   MeSH
• zvířata MeSH
• Check Tag
• lidé MeSH
• zvířata MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH