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1.
Artigo em Inglês | MEDLINE | ID: mdl-32131965

RESUMO

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.


Assuntos
Creatina Quinase , Doenças Musculares , Mioglobina , Fraturas da Coluna Vertebral , Creatina Quinase/metabolismo , Humanos , Vértebras Lombares , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Minimamente Invasivos , Doenças Musculares/diagnóstico , Doenças Musculares/etiologia , Mioglobina/metabolismo , Estudos Prospectivos , Fraturas da Coluna Vertebral/complicações , Fraturas da Coluna Vertebral/cirurgia , Vértebras Torácicas
2.
Nat Commun ; 11(1): 1072, 2020 02 26.
Artigo em Inglês | MEDLINE | ID: mdl-32102999

RESUMO

Phosphocreatine (PCr) plays a vital role in neuron and myocyte energy homeostasis. Currently, there are no routine diagnostic tests to noninvasively map PCr distribution with clinically relevant spatial resolution and scan time. Here, we demonstrate that artificial neural network-based chemical exchange saturation transfer (ANNCEST) can be used to rapidly quantify PCr concentration with robust immunity to commonly seen MRI interferences. High-quality PCr mapping of human skeletal muscle, as well as the information of exchange rate, magnetic field and radio-frequency transmission inhomogeneities, can be obtained within 1.5 min on a 3 T standard MRI scanner using ANNCEST. For further validation, we apply ANNCEST to measure the PCr concentrations in exercised skeletal muscle. The ANNCEST outcomes strongly correlate with those from 31P magnetic resonance spectroscopy (R = 0.813, p < 0.001, t test). These results suggest that ANNCEST has potential as a cost-effective and widely available method for measuring PCr and diagnosing related diseases.


Assuntos
Imagem por Ressonância Magnética/métodos , Músculo Esquelético/fisiologia , Redes Neurais de Computação , Fosfocreatina/análise , Testes Diagnósticos de Rotina/instrumentação , Testes Diagnósticos de Rotina/métodos , Humanos , Doenças Musculares/diagnóstico
3.
Am Fam Physician ; 101(2): 95-108, 2020 01 15.
Artigo em Inglês | MEDLINE | ID: mdl-31939642

RESUMO

Although the prevalence of muscle weakness in the general population is uncertain, it occurs in about 5% of U.S. adults 60 years and older. Determining the cause of muscle weakness can be challenging. True muscle weakness must first be differentiated from subjective fatigue or pain-related motor impairment with normal motor strength. Muscle weakness should then be graded objectively using a formal tool such as the Medical Research Council Manual Muscle Testing scale. The differential diagnosis of true muscle weakness is extensive, including neurologic, rheumatologic, endocrine, genetic, medication- or toxin-related, and infectious etiologies. A stepwise approach to narrowing this differential diagnosis relies on the history and physical examination combined with knowledge of the potential etiologies. Frailty and sarcopenia are clinical syndromes occurring in older people that can present with generalized weakness. Asymmetric weakness is more common in neurologic conditions, whereas pain is more common in neuropathies or radiculopathies. Identifying abnormal findings, such as Chvostek sign, Babinski reflex, hoarse voice, and muscle atrophy, will narrow the possible diagnoses. Laboratory testing, including electrolyte, thyroid-stimulating hormone, and creatine kinase measurements, may also be helpful. Magnetic resonance imaging is indicated if there is concern for acute neurologic conditions, such as stroke or cauda equina syndrome, and may also guide muscle biopsy. Electromyography is indicated when certain diagnoses are being considered, such as amyotrophic lateral sclerosis, myasthenia gravis, neuropathy, and radiculopathy, and may also guide biopsy. If the etiology remains unclear, specialist consultation or muscle biopsy may be necessary to reach a diagnosis.


Assuntos
Debilidade Muscular/diagnóstico , Debilidade Muscular/fisiopatologia , Exame Neurológico/normas , Adulto , Idoso , Idoso de 80 Anos ou mais , Diagnóstico Diferencial , Humanos , Músculos/fisiopatologia , Doenças Musculares/diagnóstico , Exame Neurológico/métodos , Neurologia/normas
4.
Crit Rev Oncol Hematol ; 145: 102839, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31877534

RESUMO

BACKGROUND: The evidence that body composition parameters influence multiple cancer outcomes is rapidly expanding. Excess adiposity deposits in muscle tissue, termed myosteatosis, can be detected in CT scans through variations in the density of muscle tissues (Hounsfield Units). Patients with similar muscle mass but different amounts of intramuscular adipose infiltration have increased chemotherapy toxicity, time to tumor progression and other adverse outcomes among different cancer types. Our review examines the impact of myosteatosis on overall survival (OS) in patients with cancer. METHODS: A systematic search of the literature was conducted on PubMed/ MEDLINE, Cochrane CENTRAL, and EMBASE. Meta-analysis was conducted using a random-effects model. Risk of bias was evaluated using the Newcastle-Ottawa Quality assessment for cohort studies, funnel plot (publication bias), and GRADE summary of findings tool from Cochrane. RESULTS: A total of 4880 articles were screened from which 40 articles selected, including 21,222 patients. The overall mean proportion of patients with myosteatosis was 48 % (range 11-85 %). Using skeletal muscle density (SMD), patients classified as having myosteatosis had 75 % greater mortality risk compared to non-myosteatosis patients (HR 1.75 95 % CI 1.60-1.92, 40 studies) (p < .00001) (i2 = 62 %). Specifically, myosteatosis was prognostic for worse OS in patients with gynecological, renal, periampullary/pancreatic, hepatocellular, gastroesophageal, and colorectal carcinoma, and lymphomas. CONCLUSION: Our analysis of the literature shows that cancer patients with myosteatosis have shorter survival. Our findings suggest that in oncological practice, muscle density assessment is valuable as a prognostic parameter.


Assuntos
Músculo Esquelético , Doenças Musculares , Neoplasias , Composição Corporal , Estudos de Coortes , Humanos , Músculo Esquelético/patologia , Doenças Musculares/diagnóstico , Doenças Musculares/patologia , Neoplasias/complicações , Neoplasias/patologia , Obesidade/patologia , Prognóstico , Tomografia Computadorizada por Raios X
6.
Zhonghua Nei Ke Za Zhi ; 58(12): 899-904, 2019 Dec 01.
Artigo em Chinês | MEDLINE | ID: mdl-31775453

RESUMO

Objective: To analyze the diagnostic value of skeletal muscle biopsy in patients with rhabdomyolysis. Methods: Clinical and pathological data of 26 patients with rhabdomyolysis from January 2002 to December 2018 undergoing muscle biopsy were collected. Results: Eighteen males and 8 females were finally recruited with median age of 6-73 (37.3±19.6) years. The average time from onset to biopsy was 44 days (median course was 30 days). All patients had acute manifestations with muscle pain and/or weakness. Serum creatine kinase was between 1 648-92 660 U/L. Muscle biopsies showed nonspecific changes in 12 cases (a few with type 2 muscle fiber atrophy, slight deposition of lipid droplets), 10 cases with necrotizing myopathy (muscle fiber necrosis and regeneration). Toxic neurogenic damages were seen in 2 cases (type 1 and type 2 angular atrophic muscle fibers with group change), lipid storage disease in 1 case (lipid droplets deposit significantly) and idiopathic inflammatory myopathy in 1 case (muscle fiber necrosis and regeneration, with lymphocyte infiltration). The etiology of non-specific pathological changes included short-term strenuous exercise in 6 patients, poisoning in two, chronic kidney disease in one, viral infection in one, hypothyroidism in one and unknown reason in one. As to patients with necrotizing myopathy, seven were poisoning or drug-related, one with hyperthyroidism, two with unknown reason. Conclusions: Among the numerous causes of rhabdomyolysis, exercise usually links nonspecific skeletal muscle changes and poisoning or drug-related disorders are commonly associated with necrotic myopathy. Rhabdomyolysis induced by primary myopathy is rare.


Assuntos
Músculo Esquelético/patologia , Rabdomiólise/patologia , Adolescente , Adulto , Idoso , Biópsia , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Musculares/diagnóstico , Miosite/patologia , Adulto Jovem
7.
Best Pract Res Clin Rheumatol ; 33(3): 101433, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31590993

RESUMO

Myalgia is a common symptom of various neuromuscular disorders: myalgia occurs in metabolic muscle diseases, inflammatory muscle diseases, dystrophic myopathies and myotonic muscle disorders. Myalgia leads to a significantly reduced quality of life. Other muscular symptoms that are present along with myalgia often provide the clue towards a diagnosis and include weakness, cramps and myotonia as well as the type of pain. In addition, extramuscular symptoms like an erythema in dermatomyositis can lead to the correct diagnosis. Basic diagnostic workup includes a detailed medical history, full neurologic assessment, laboratory tests, EMG and nerve conduction studies. Muscle imaging, genetic testing and muscle biopsy may be required to make a diagnosis. Whenever possible, treatment should aim to improve or correct the underlying cause for myalgia such as inflammation or hypothyroidism. Symptomatic therapy includes different avenues: Myotonia can be treated with mexiletine. Carbamazepine or phenytoin can be used in myotonic syndromes, particularly with muscle cramps. Pregabalin, gabapentin, or amitriptyline can be tried in conditions with myalgic pain. This review summarizes the symptoms, diagnostic strategies, and therapeutic approach in neuromuscular disorders that present with myalgia.


Assuntos
Doenças Musculares/complicações , Doenças Musculares/diagnóstico , Mialgia/etiologia , Miosite/complicações , Miosite/diagnóstico , Humanos , Qualidade de Vida
8.
J Pediatr Ophthalmol Strabismus ; 56: e60-e64, 2019 Oct 17.
Artigo em Inglês | MEDLINE | ID: mdl-31622479

RESUMO

Retinopathy of prematurity (ROP) is a biphasic disease in which the first phase is characterized by high oxygen tension leading to vaso-obliteration in the retina. Pearson syndrome is a rare multisystem mitochondrial disease with a defect in cellular respiration. The authors describe a patient with Pearson syndrome and delayed onset of ROP at a postconceptual age of 42 weeks. The proposed mechanistic theory was the increased oxygen use associated with the metabolic impairments in Pearson syndrome counterbalancing the effects of supplemental oxygen during the vaso-obliterative stage of ROP. [J Pediatr Ophthalmol Strabismus. 2019;56:e60-e64.].


Assuntos
Acil-CoA Desidrogenase de Cadeia Longa/deficiência , Recém-Nascido de Baixo Peso , Erros Inatos do Metabolismo Lipídico/diagnóstico , Doenças Mitocondriais/diagnóstico , Doenças Musculares/diagnóstico , Oxigênio/metabolismo , Retinopatia da Prematuridade/diagnóstico , Acil-CoA Desidrogenase de Cadeia Longa/metabolismo , Progressão da Doença , Feminino , Angiofluoresceinografia/métodos , Seguimentos , Fundo de Olho , Idade Gestacional , Humanos , Recém-Nascido , Erros Inatos do Metabolismo Lipídico/metabolismo , Doenças Mitocondriais/metabolismo , Doenças Musculares/metabolismo , Retinopatia da Prematuridade/metabolismo , Fatores de Tempo
9.
Muscle Nerve ; 60(6): 748-752, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31495916

RESUMO

INTRODUCTION: Elevated creatine kinase (CK) level was redefined by the European Federation of Neurological Societies)EFNS(as 1.5 times the upper limit of normal. In the current study we sought to determine the sensitivity and specificity of CK testing for the diagnosis of neuromuscular disorders. METHODS: Demographics and CK levels were retrospectively extracted from an electronic database for 234 patients with neuromuscular disorders. Sensitivity, specificity, and likelihood ratios and the area under curve were determined for each diagnosis and different cutoff CK values. RESULTS: Using the EFNS cutoff values significantly reduced CK test sensitivity. Creatine kinase values >1000 IU/L showed a high likelihood (11.04) for myopathies and a low likelihood for polyneuropathies (0). DISCUSSION: European Federation of Neurological Societies cutoff values significantly reduce CK sensitivity for diagnosing neuromuscular disorders. While low CK values cannot exclude a neuromuscular disease, values >1000 IU/L are associated with a high likelihood of myopathy.


Assuntos
Creatina Quinase/sangue , Doença dos Neurônios Motores/diagnóstico , Doenças Musculares/diagnóstico , Polineuropatias/diagnóstico , Adulto , Idoso , Área Sob a Curva , Europa (Continente) , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença dos Neurônios Motores/sangue , Doenças Musculares/sangue , Neurologia , Doenças Neuromusculares/sangue , Doenças Neuromusculares/diagnóstico , Polineuropatias/sangue , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/sangue , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/diagnóstico , Valores de Referência , Sociedades Médicas
11.
Handb Clin Neurol ; 161: 269-280, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31307605

RESUMO

The electrodiagnostic tests performed in a patient with suspected muscle disease should provide reliable answers to the addressed questions: (1) differentiate a myopathic disorder from a neuropathic one and (2) precise the nature and cause of the myopathy. Answer to the first question mainly requires needle electromyography (EMG) of 4-6 muscles. Recordings may include extraction and measurements of motor unit potentials (MUPs). Reduced MUP spike duration indicates a lack of active muscle fibers within the motor units, and is the most reliable sign of myopathy. Needle EMG will also guide toward the etiology of the myopathy through the topographical distribution (proximal, distal, etc.) of abnormal EMG tracings and the identification of electrical activity at rest, especially fibrillation and myotonic discharges which guide toward evolutive myopathies and myotonic syndromes, respectively. The study of sensory nerve conduction should involve two to three nerves in order to disclose the coexistence of a sensory neuropathy (particularly in mitochondrial myopathies). If the diagnosis remains uncertain, functional provocative tests should be performed: 3Hz repetitive nerve stimulation to search for a myasthenic syndrome, repeated short exercise (combined with cooling if necessary) in the case of myotonic syndrome; long exercise test if periodic paralysis is suspected.


Assuntos
Eletromiografia/métodos , Doenças Musculares/diagnóstico , Doenças Musculares/fisiopatologia , Humanos
12.
Biomed Res Int ; 2019: 9365291, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31309121

RESUMO

Objective: The aim of this study was to assess muscle injury associated with upper and lower closed limb fracture using ultrasound, and to develop ultrasound classification criteria for muscle injury. Patients and Methods: Thirty patients with limb fracture and muscle injury participated in this study. Ultrasonography was used to assess muscle fibre, hematoma, vascular injury, and diameter growth rate. Injury was classified into three grades according to the ultrasound imaging: scores of less than, equal to, or greater than 9. Results: Of 30 patients, focal fibre rupture was observed in 11 cases; in 9 cases, the injured area exceeded 30% of the muscle area. Six patients had muscle hematoma (the largest reaching 39 mm); in 4 patients, the hematoma showed a honeycombed pattern. Vascular rupture was observed in 6 patients, of which 2 had decreased main arterial diameter and blood flow. The greatest increase in muscle thickness was 17 mm. Of all patients, 11 showed an increase in the diameter growth rate of the muscle exceeding 50%. In addition, among the 30 patients, 11 patients with scores ranging from 4 to 8 received conservative treatment; 9 patients with scores ranging from 10 to 14 received operative treatment; and 10 patients with scores equal to 9 received either conservative or operative treatment. Conclusions: Ultrasonography is useful for diagnosing muscle injury associated with closed limb fracture. The ultrasound classification criteria for muscle injury can be used to assess the severity of injury and guide the decision of treatment.


Assuntos
Extremidades/fisiopatologia , Fraturas Ósseas/complicações , Fraturas Fechadas/complicações , Músculos/lesões , Doenças Musculares/diagnóstico , Doenças Musculares/etiologia , Adolescente , Adulto , Idoso , Feminino , Consolidação da Fratura/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Ruptura/etiologia , Ultrassonografia/métodos , Adulto Jovem
13.
Acta Myol ; 38(2): 33-36, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31309180

RESUMO

Mutations in the LMNA gene are associated with a wide spectrum of disease phenotypes, ranging from neuromuscular, cardiac and metabolic disorders to premature aging syndromes. Skeletal muscle involvement may present with different phenotypes: limb-girdle muscular dystrophy type 1B or LMNA-related dystrophy; autosomal dominant Emery-Dreifuss muscular dystrophy; and a congenital form of muscular dystrophy, frequently associated with early onset of arrhythmias. Heart involvement may occur as part of the muscle involvement or independently, regardless of the presence of the myopathy. Notably conduction defects and dilated cardiomyopathy may exist without a muscle disease. This paper will focus on cardiac diseases presenting as the first manifestation of skeletal muscle hereditary disorders such as laminopathies, inspired by two large families with cardiovascular problems long followed by conventional cardiologists who did not suspect a genetic muscle disorder underlying these events. Furthermore it underlines the need for a multidisciplinary approach in these disorders and how the figure of the cardio-myo-geneticist may play a key role in facilitating the diagnostic process, and addressing the adoption of appropriate prevention measures.


Assuntos
Cardiopatias/etiologia , Lamina Tipo A/genética , Doenças Musculares/diagnóstico , Doenças Musculares/genética , Mutação/genética , Adolescente , Adulto , Feminino , Cardiopatias/diagnóstico , Cardiopatias/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Adulto Jovem
14.
Diagnosis (Berl) ; 6(3): 189-201, 2019 08 27.
Artigo em Inglês | MEDLINE | ID: mdl-31271552

RESUMO

Skeletal myopathies have been suggested as a non-cardiac cause of elevations of cardiac troponin (cTn), particularly cardiac troponin T (cTnT). This is of major clinical relevance and concern as cTn plays a major role in the early diagnosis of myocardial infarction (MI). While both the incidence as well as the true pathophysiology (cardiac versus non-cardiac) underlying elevations in cTn in skeletal myopathies remain largely unknown, re-expression of cTnT in regenerating adult skeletal muscle has been suggested as a possible contributor. However, unequivocal protein characterization in skeletal muscle and quantification of the relative amounts of this possible signal versus the cTn signal derived from true cardiomyocyte injury remains elusive. Alternatively, minor cross-reactivity of the cTnT (and possibly at times also cTnI) detection and capture antibodies used in current monoclonal immunoassays with the skeletal troponin T or I isoform may be considered. Both would represent "false positive" elevations from a clinical perspective and would need to be reliably differentiated from "true positive elevations" from subclinical cardiomyocyte injury not detectable by currently available imaging techniques such as echocardiography and contrast enhanced magnetic resonance imaging (MRI), which have at least a 5 times lower sensitivity for cardiomyocyte injury. This review aims to explore the currently available data, its methodological limitations and provide guidance to clinicians to avoid misinterpretation of cTn concentrations.


Assuntos
Músculo Esquelético/metabolismo , Doenças Musculares/sangue , Doenças Musculares/diagnóstico , Miócitos Cardíacos/metabolismo , Troponina I/sangue , Troponina T/sangue , Biomarcadores/sangue , Ecocardiografia , Humanos , Imunoensaio
15.
Handb Clin Neurol ; 162: 435-448, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31324324

RESUMO

The differential diagnosis of neonatal hypotonia is a complex task, as in newborns hypotonia can be the presenting sign of different underlying causes, including peripheral and central nervous system involvement and genetic and metabolic diseases. This chapter describes how a combined approach, based on the combination of clinical signs and new genetic techniques, can help not only to establish when the hypotonia is related to peripheral involvement but also to achieve an accurate and early diagnosis of the specific neuromuscular diseases with neonatal onset. The early identification of such disorders is important, as this allows early intervention with disease-specific standards of care and, more importantly, because of the possibility to treat some of them, such as spinal muscular atrophy, with therapeutic approaches that have recently become available.


Assuntos
Doenças do Recém-Nascido/terapia , Hipotonia Muscular/congênito , Hipotonia Muscular/terapia , Doenças Musculares/congênito , Doenças Musculares/terapia , Adulto , Feminino , Humanos , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/genética , Doenças do Recém-Nascido/fisiopatologia , Técnicas de Diagnóstico Molecular , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/genética , Doenças Musculares/diagnóstico , Doenças Musculares/genética , Gravidez
16.
Pediatr Dermatol ; 36(5): 664-667, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31215058

RESUMO

Anterior tibialis muscle herniation is an important diagnostic consideration in children and adolescents presenting with lower extremity subcutaneous nodules. We report four cases of teenagers presenting with asymptomatic nodules in the lower extremities and discuss diagnostic features and treatment recommendations.


Assuntos
Hérnia/diagnóstico , Extremidade Inferior , Músculo Esquelético , Doenças Musculares/diagnóstico , Adolescente , Criança , Feminino , Humanos , Masculino
17.
Harefuah ; 158(6): 372-377, 2019 Jun.
Artigo em Hebraico | MEDLINE | ID: mdl-31215189

RESUMO

INTRODUCTION: Muscle biopsy is an important diagnostic procedure for the evaluation of neuromuscular disorders, commonly employed when patients present with muscle weakness, high creatine-kinase or electromyography which suggest myopathy. The diagnostic value of this procedure when these are normal is unclear. AIMS: To characterize the pathology in muscle biopsies of patients without clinical, laboratory or electromyographic suggestion for myopathy. METHODS: Retrospective chart and pathology review of consecutive patients who were evaluated by muscle biopsy at Sheba Medical Center. RESULTS: Of 109 patients, 12 (11%) had no indication for myopathy prior to biopsy. Pathology was identified in 2/3 of cases. Inflammation was detected in 5 cases (42%), with a perivascular infiltrate in four, and endomysial in one. A mild myopathy was present in 3/5 of these cases. Type-2 muscle fiber atrophy as the primary or only pathology was seen in 2 cases (17%) and mild neurogenic changes in one (8%). A history of systemic disease, additional laboratory tests or imaging suggestive for inflammation were predictive for inflammatory pathology in 4/5 of cases (P = 0.006). CONCLUSIONS: Perivascular inflammation without significant muscle fiber damage is common and meaningful in patients with inflammatory conditions in spite of normal evaluation for myopathy. DISCUSSION: Muscle disease is characterized by damage to muscle fibers, connective tissue or vessels. In the absence of fiber damage, muscle strength, creatine-kinase and electromyography may remain normal. These tests therefore do not rule-out perivascular inflammation and mild myopathy. Muscle biopsy is effective for the detection of inflammation in patients with inflammatory conditions in spite of normal strength creatine-kinase and electromyography.


Assuntos
Biópsia , Doenças Musculares , Creatina Quinase , Eletromiografia , Humanos , Músculo Esquelético/patologia , Doenças Musculares/diagnóstico , Estudos Retrospectivos
18.
Rinsho Shinkeigaku ; 59(7): 431-435, 2019 Jul 31.
Artigo em Japonês | MEDLINE | ID: mdl-31243249

RESUMO

A 53-year-old man suffering from squamous cell lung cancer presented with bilateral ptosis and bulbar palsy a month after initial treatment with the immune checkpoint inhibitor nivolumab. The symptoms showed worsening from midday, suggesting myasthenia gravis (MG), although anti-AChR antibody was negative. Although no muscle weakness was detected, the CK level was elevated to 5,255 IU/l, and MRI of the thigh revealed inflammation of the bilateral rectus femoris muscle. A muscle biopsy showed signs of necrotizing myopathy with expression of sarcolemmal HLA class I and accumulation of macrophages, CD4, CD8, and CD20-positive lymphocytes. Positivity for anti-titin antibody, one of the anti-striated muscle antibodies, was evident. The patient was diagnosed as having nivolumab-related necrotizing myopathy with myasthenia gravis, an immune-related adverse event (irAE). Treatment with prednisolone rapidly ameliorated the symptoms, and the serum CK level normalized. There have been several reports of nivolumab-related myositis with MG. On the basis of the muscle pathology and antibody data, we were able to clarify that necrotizing myopathy was related to the pathogenesis of this case.


Assuntos
Conectina/imunologia , Doenças Musculares/induzido quimicamente , Miastenia Gravis/induzido quimicamente , Nivolumabe/efeitos adversos , Autoanticorpos/sangue , Biomarcadores/sangue , Carcinoma de Células Escamosas/tratamento farmacológico , Humanos , Neoplasias Pulmonares/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Doenças Musculares/diagnóstico , Doenças Musculares/tratamento farmacológico , Doenças Musculares/patologia , Miastenia Gravis/diagnóstico , Miastenia Gravis/tratamento farmacológico , Necrose , Nivolumabe/uso terapêutico , Prednisolona/administração & dosagem , Músculo Quadríceps/patologia , Resultado do Tratamento
19.
Pediatrics ; 144(1)2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31227563

RESUMO

A 2-day old term male infant was found to be hypotonic and minimally reactive during routine nursing care in the newborn nursery. At 40 hours of life, he was hypoglycemic and had intermittent desaturations to 70%. His mother had an unremarkable pregnancy and spontaneous vaginal delivery. The mother's prenatal serology results were negative for infectious risk factors. Apgar scores were 9 at 1 and 5 minutes of life. On day 1 of life, he fed, stooled, and voided well. Our expert panel discusses the differential diagnosis of hypotonia in a neonate, offers diagnostic and management recommendations, and discusses the final diagnosis.


Assuntos
Acil-CoA Desidrogenase de Cadeia Longa/deficiência , Letargia/etiologia , Erros Inatos do Metabolismo Lipídico/diagnóstico , Doenças Mitocondriais/diagnóstico , Hipotonia Muscular/etiologia , Doenças Musculares/diagnóstico , /terapia , Diagnóstico Diferencial , Humanos , Hipotermia/etiologia , Recém-Nascido , Erros Inatos do Metabolismo Lipídico/terapia , Masculino , Doenças Mitocondriais/terapia , Doenças Musculares/terapia
20.
Rinsho Shinkeigaku ; 59(5): 253-257, 2019 May 28.
Artigo em Japonês | MEDLINE | ID: mdl-31061299

RESUMO

A 69-year-old man was admitted because of subacute development of lower limb weakness from one month ago. He showed central obesity, gynecomastia, dorsal fat pad ("buffalo hump"), and proximal muscle weakness in the lower extremities (manual muscle test 4). Needle EMG, muscle MRI and labolatry screening including CPK were negative for neuromuscular diseases, except for the hypogenitalism accidentally detected in MRI. Although blood corticol was in normal range, the levels of serum ACTH and 24-hour urinary free cortisol excretion were high, and the dexamethasone suppression tests were positive. Brain MRI showed a small pituitary mass with gadolinium enhancement, and ACTH measurement from petrosal sinus sampling after CRH stimulation lead to the diagnosis of definite Cushing disease. Moreover, he also showed low testosterone and elevated LH and FSH. Chromosome banding revealed 47 XXY in 22 in 30 cells, leading to the diagnosis of mosaic Klinefelter syndrome. The supplementation with testosterone was partially effective for his weakness. The surgical resection of pituitary microadenoma resulted in the full recovery. Either Klinefelter syndrome or mild Cushing disease alone was insufficient as a cause of the muscle weakness in this patient. It is plausible that the mild elevation of cortisol accompanied by the lack of tesstelone may underlie the weakness, probably linked to impaired balance between muscle anabolism and catabolism.


Assuntos
Síndrome de Klinefelter/complicações , Síndrome de Klinefelter/diagnóstico , Doenças Musculares/etiologia , Hipersecreção Hipofisária de ACTH/complicações , Hipersecreção Hipofisária de ACTH/diagnóstico , Doença Aguda , Adenoma/complicações , Adenoma/cirurgia , Hormônio Adrenocorticotrópico/sangue , Idoso , Biomarcadores/sangue , Biomarcadores/urina , Bandeamento Cromossômico , Hormônio Foliculoestimulante/sangue , Humanos , Hidrocortisona/urina , Hormônio Luteinizante/sangue , Imagem por Ressonância Magnética , Masculino , Debilidade Muscular/etiologia , Doenças Musculares/diagnóstico , Doenças Musculares/terapia , Neoplasias Hipofisárias/complicações , Neoplasias Hipofisárias/cirurgia , Testosterona/administração & dosagem , Testosterona/deficiência , Resultado do Tratamento
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