Navegando por Palavras-chave "muscle biopsy"

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    Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature
    (Elsevier Science Inc, 2017) Martins Moreno, Cristiane de Araujo; Neto, Osorio Abath; Donkervoort, Sandra; Hu, Ying; Reed, Umbertina Conti; Bulle Oliveira, Acary Sousa [UNIFESP]; Bonnemann, Carsten; Zanoteli, Edmar
    BACKGROUND: Nemaline myopathy is a rare congenital disease of skeletal muscle characterized by muscle weakness and hypotonia, as well as the diagnostic presence of nemaline rods in skeletal muscle fibers. Nemaline myopathy is genetically and phenotypically heterogeneous and, so far, mutations in 11 different genes have been associated with this disease. Dominant mutations in ACTA1 are the second most frequent genetic cause of nemaline myopathy and can lead to a variety of clinical and histologic phenotypes. PATIENTS AND METHODS: We present a series of ACTA1-related cases from a Brazilian cohort of 23 patients with nemaline myopathy, diagnosed after Sanger sequencing the entire coding region of ACTA1, and review the literature on ACTA1-related nemaline myopathy. RESULTS: The study confirmed ACTAI mutations in four patients, including one with intranuclear rods, one with large intracytoplasmic aggregates, and two with nemaline intracytoplasmic rods. A repeat muscle biopsy in one patient did not show histological progression. CONCLUSION: Despite the recognized phenotypic variability in ACTA1-related nemaline myopathy, clinical and histological presentations appear to correlate with the position of the mutation, which confirms emerging genotype/phenotype correlations and better predict the prognosis of affected patients.
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    Immunohistochemical analysis of adhesion molecule expression on muscle biopsy specimens from patients with juvenile dermatomyositis
    (J Rheumatol Publ Co, 2004-04-01) Sallum, Adriana ME; Marie, Suely KN; Wakamatsu, Alda; Sachetti, Silvana; Vianna, Maria AG; Silva, Clóvis AA; Kiss, Maria HB; Universidade Federal de São Paulo (UNIFESP); Universidade de São Paulo (USP); Adolfo Lutz Inst
    Objective. To assess expression of intercellular adhesion molecule-1 (ICAM-1) and vascular cell adhesion molecule-1 (VCAM-1) on muscle biopsy specimens from patients with untreated juvenile dermatomyositis (JDM).Methods. Histochemical and immunohistochemical tests for ICAM-1 and VCAM-1 were performed on serial frozen sections from 27 JDM muscle biopsy specimens. ICAM-1 and VCAM-1 expression was analyzed on capillaries, perimysial and endomysial large vessels, and muscle fibers. Expression was assessed and graded semiquantitatively.Results. Increased ICAM-1 expression was observed on capillaries and perimysial large vessels on semiquantitative analysis, and was statistically more evident than on endomysial large vessels. In all cases, only a few muscle vessels showed expression of VCAM-1. Expression of ICAM-1 and VCAM-1 was observed on few muscle fibers.Conclusion. The observation of ICAM-1 expression on muscle vessels, mainly on capillaries of patients with untreated JDM compared to controls, and. VCAM-1 expression to a lesser extent, mostly on muscle vessels surrounded by inflammatory infiltrate, supports the participation of these adhesion molecules in the pathologic mechanism of vascular injury in JDM.
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    MHC class I and II expression in juvenile dermatomyositis skeletal muscle
    (Clinical & Exper Rheumatology, 2009-05-01) Sallum, A. M. E.; Kiss, M. H. B.; Silva, C. A. A.; Wakamatsu, A.; Sachetti, Saul Antonio [UNIFESP]; Lotufo, S.; Matsumura, N.; Marie, Suely Kazue Nagahashi [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade de São Paulo (USP); Adolfo Lutz Inst
    ObjectiveTo assess MHC I and II expressions in muscle fibres of juvenile dermatomyositis (JDM) and compare with the expression in polymyositis (PM), dermatomyositis (DM) and dystrophy.Patients and methodsForty-eight JDM patients and 17 controls (8 PM, 5 DM and 4 dystrophy) were studied. The mean age at disease onset was 7.1 +/- 3.0 years and the mean duration of weakness before biopsy was 9.4 +/- 12.9 months. Routine histochemistry and immunohistochemistry (StreptABComplex/HRP) for MHC I and II (Dakopatts) were performed on serial frozen muscle sections in all patients. Mann-Whitney, Kruskal Wallis, chi-square and Fisher's exact statistical methods were used.ResultsMHC I expression was positive in 47 (97.9%) JDM cases. This expression was observed independent of time of disease corticotherapy previous to muscle biopsy and to the grading of inflammation observed in clinical, laboratorial and histological parameters. The expression of MHC I was similar on JDM, PM and DM, and lower in dystrophy. On the other hand, MHC II expression was positive in just 28.2% of JDM cases was correlated to histological features as inflammatory infiltrate, increased connective tissue and VAS for global degree of abnormality (p < 0.05). MCH II expression was similar in DM/PM and lower in JDM and dystrophy, and it was based on the frequency of positive staining rather than to the degree of the MCH II expression.ConclusionsMHC I expression in muscle fibres is a premature and late marker of JDM patient independent to corticotherapy, and MHC II expression was lower in JDM than in PM and DM.
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    Multivariate Analysis in the Maximum Strength Performance
    (Georg Thieme Verlag Kg, 2012-12-01) Souza, E. O. de; Tricoli, V.; Paulo, A. C.; Silva-Batista, C.; Cardoso, R. K.; Brum, P. C.; Bacurau, A. V. N.; Laurentino, G.; Neves-, M.; Aihara, A. Y. [UNIFESP]; Ugrinowitsch, C.; Universidade de São Paulo (USP); Univ Paulista UNIP; Univ Nove Julho; Universidade Federal de São Paulo (UNIFESP)
    This study performed an exploratory analysis of the anthropometrical and morphological muscle variables related to the one-repetition maximum (1RM) performance. in addition, the capacity of these variables to predict the force production was analyzed. 50 active males were submitted to the experimental procedures: vastus lateralis muscle biopsy, quadriceps magnetic resonance imaging, body mass assessment and 1RM test in the leg-press exercise. K-means cluster analysis was performed after obtaining the body mass, sum of the left and right quadriceps muscle cross-sectional area (Sigma CSA), percentage of the type II fibers and the 1RM performance. the number of clusters was defined a priori and then were labeled as high strength performance (HSP1RM) group and low strength performance (LSP1RM) group. Stepwise multiple regressions were performed by means of body mass, Sigma CSA, percentage of the type II fibers and clusters as predictors' variables and 1RM performance as response variable. the clusters mean +/- SD were: 292.8 +/- 52.1 kg, 84.7 +/- 17.9 kg, 19249.7 +/- 1645.5 mm(2) and 50.8 +/- 7.2% for the HSP1RM and 254.0 +/- 51.1 kg, 69.2 +/- 8.1 kg, 15483.1 +/- 1 104.8 mm(2) and 51.7 +/- 6.2 %, for the LSP1RM in the 1RM, body mass, Sigma CSA and muscle fiber type II percentage, respectively. the most important variable in the clusters division was the Sigma CSA. in addition, the Sigma CSA and muscle fiber type II percentage explained the variance in the 1RM performance (Adj R-2 = 0.35, p = 0.0001) for all participants and for the LSP1RM (Adj R-2 = 0.25, p = 0.002). for the HSP1RM, only the Sigma CSA was entered in the model and showed the highest capacity to explain the variance in the 1RM performance (Adj R-2 = 0.38, p = 0.01). As a conclusion, the muscle CSA was the most relevant variable to predict force production in individuals with no strength training background.