Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita

2003 ◽  
Vol 54 (6) ◽  
pp. 790-795 ◽  
Author(s):  
Peter B. Kang ◽  
Hart G. W. Lidov ◽  
William S. David ◽  
Alcy Torres ◽  
Douglas C. Anthony ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Diagnostic Value ◽  
Arthrogryposis Multiplex Congenita

EMG and Needle Muscle Biopsy Studies in Arthrogryposis Multiplex Congenita

1985 ◽  
Vol 16 (04) ◽  
pp. 225-227 ◽  
Author(s):  
Elisabeth Strehl ◽  
M. Vanasse ◽  
P. Brochu
Keyword(s):  
Muscle Biopsy ◽  
Arthrogryposis Multiplex Congenita

scholarly journals The diagnostic value of perivascular infiltrates in muscle biopsy specimens for the assessment of rheumatoid vasculitis

1998 ◽  
Vol 57 (2) ◽  
pp. 114-117 ◽  
Author(s):  
A. E Voskuyl ◽  
S. G van Duinen ◽  
A. H Zwinderman ◽  
F. C Breedveld ◽  
J. M W Hazes
Keyword(s):  
Muscle Biopsy ◽  
Diagnostic Value ◽  
Rheumatoid Vasculitis ◽  
Biopsy Specimens

scholarly journals myoMIR and gene expression in myofibrillar myopathy

2021 ◽  
Author(s):  
Matheus Moreira Perez ◽  
David Feder, Beatriz da Costa Aguiar Alves ◽  
Fernando Luiz Affonso Fonseca ◽  
Alzira Alves de Siqueira Carvalho
Keyword(s):  
Gene Expression ◽  
Mrna Expression ◽  
Muscle Biopsy ◽  
Diagnostic Value ◽  
Included Study ◽  
Control Group ◽  
Protective Function ◽  
Muscle Disorders ◽  
Skeletal Tissue ◽  
Student’S T

Background: Myofibrillar myopathies (MFM) represent a heterogeneous group of muscle disorders caused by mutations in different genes. It has been identified a group of microRNAs present in muscles named myoMIR. Objective: Evaluate the diagnostic value of these myoMIRs and mRNA expression in skeletal tissue from muscle biopsy of patients with MFM. Design and Setting: Muscle biopsies from 16 MFM patients with mutations in Desmin (DES), Myotilin (MYOT), ZASP, or Filamin C (FLNC) genes, and 18 donors (patients with minimal non- specific changes in muscle biopsy) were included. Study were conducted at FMABC. Methods: mRNA and myoMIR expression from both groups were assessed. The target myoMIRs were MIR1, MIR133a, MIR133b, MIR206, MIR208a, MIR208b, MIR486, and MIR499. Anova and Student’s t-test were performed. Results: Six patients presented mutations in DES, five in ZASP, three in FLNC, and two in MYOT. MIR133b (p=0.05), MIR499 (p=0.027), and mRNA expression was up-regulated in patients with MFM. MIR208a (p=0.042) was higher in the control group. We found an association between MIR133a and the presence of mutations in all genes studied (p=0.006). A relation between MIR486 and mutations in ZASP and DES (p=0.035) was also noted. Conclusions: • MIR208a seems to have a protective function in the muscle fiber; • Heterogeneity could be related to the concentration of gene expression in each patient; • Expression of myoMIRs influences several aspects in the muscle function through genes modulation which are important to myogenesis control;

Diagnostic value of muscle biopsy for neuromuscular diseases

2017 ◽  
Vol 381 ◽  
pp. 473-474
Author(s):  
S. Kimura ◽  
H. Nakanishi ◽  
S. Noda ◽  
A. Murakami ◽  
M. Iijima ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Neuromuscular Diseases ◽  
Diagnostic Value

The diagnostic value of gastrocnemius muscle biopsy in sarcoidosis presenting with erythema nodosum and hilar adenopathy

1987 ◽  
Vol 6 (2) ◽  
pp. 192-196 ◽  
Author(s):  
A. P. Andonopoulos ◽  
G. Asimakopoulos ◽  
C. Mallioris ◽  
C. Karatza ◽  
C. Skopa
Keyword(s):  
Muscle Biopsy ◽  
Gastrocnemius Muscle ◽  
Erythema Nodosum ◽  
Diagnostic Value ◽  
Hilar Adenopathy

scholarly journals The diagnostic value of vacuolar characterization in muscular biopsy in Pompe's Disease

2021 ◽  
Vol 29 ◽  
pp. 1-20
Author(s):  
Beatriz Akemi Gonçalves ◽  
Acary Souza Bulle de Oliveira
Keyword(s):  
Muscle Biopsy ◽  
Neuromuscular Diseases ◽  
Diagnostic Value ◽  
Mitochondrial Activity ◽  
Biopsy Material ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
Determining Factors ◽  
Histological Characteristics

Introduction. Through muscle biopsy we can observe the formation of vacuoles that alter the structure of cells and tissues in Pompe's disease. The presence of these vacuoles varies as the disease progresses, relating to the broad clinical spectrum presented by the disease. Objectives. After confirming the disease, examine the possibility of diagnosing or excluding the diagnosis of Pompe's disease through the vacuolar characteristics presented. Method. Analysis of the muscle biopsy material of selected patients at the Neuromuscular Diseases Investigation Clinic at the Federal University of São Paulo. Through staining and histochemical techniques, a comparative study of the histological characteristics found was performed. Results. Thirty-three biopsies had the diagnosis of Pompe's disease confirmed, being 13 women and 20 men. Of this group, 23 received the diagnosis when they were 18 years old or more, and 10 received the diagnosis under the age of 18 years. Delimiting membrane and subsarcolemal location were the main vacuolar characteristic found, manifesting in 86.6% of the studied cases. Integration between the vacuole membranes was observed in 62.5% of the cases. We also found necrosis, replacement of muscle tissue by connective or adipose tissue, increased mitochondrial activity and absence of predominance in one type of fiber. Conclusion. Muscle biopsy allows to analyze a series of peculiarities presented by vacuoles in Pompe's Disease and, thus, it proves to be a sure technique, allowing to reach a quick conclusion and to identify determining factors for the clinical conduct and maintenance of quality of life of the patient with Pompe's disease.

Fascia Iliaca Block for an Infant with Arthrogryposis Multiplex Congenita Undergoing Muscle Biopsy

2005 ◽  
Vol 100 (1) ◽  
pp. 82-84 ◽  
Author(s):  
Tuta Ion ◽  
Scott D. Cook-Sather ◽  
Richard S. Finkel ◽  
Giovanni Cucchiaro
Keyword(s):  
Muscle Biopsy ◽  
Arthrogryposis Multiplex Congenita ◽  
Fascia Iliaca Block

The Diagnostic Value of Muscle Biopsy in Rheumatoid Arthritis

1962 ◽  
Vol 8 (1-4) ◽  
pp. 103-118
Author(s):  
F. Lenoch ◽  
V. Pazderka ◽  
Z. Hájková ◽  
L. Kadlcová ◽  
Z. Poláková
Keyword(s):  
Rheumatoid Arthritis ◽  
Muscle Biopsy ◽  
Diagnostic Value

scholarly journals Diagnostic Value of Dystrophin Immunostaining in the Diagnosis of Duchenne and Becker Muscular Dystrophy Patients

2021 ◽  
Vol 9 (A) ◽  
pp. 1137-1141
Author(s):  
Shinta Andi Sarasati ◽  
Kristy Iskandar ◽  
Maria Alethea Septianastiti ◽  
Rusdy Ghazali Malueka ◽  
Ery Kus Dwianingsih
Keyword(s):  
Genetic Testing ◽  
Muscular Dystrophy ◽  
Muscle Biopsy ◽  
Predictive Value ◽  
False Negative ◽  
High Sensitivity ◽  
Becker Muscular Dystrophy ◽  
Diagnostic Value ◽  
Diagnostic Tools ◽  
Sensitivity Specificity

Background: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive muscular disorders caused by the absence or reduction of the muscle cytoskeletal protein dystrophin. Standard procedures to detect deletion and duplication of the DMD gene use Multiplex Ligation-Dependent Probe Amplification (MLPA). However, genetic testing, such as MLPA, is not covered by the national insurance scheme in Indonesia. Immunohistochemical (IHC) staining of dystrophin from muscle biopsy in the form of Formalin-Fixed Paraffin-Embedded (FFPE) specimens can be an alternative method to detect dystrophin expression in protein levels to establish the diagnosis of DMD or BMD. Objectives: To determinate sensitivity, specificity and accuracy of IHC analysis of dystrophin in DMD/BMD patient in comparison with the standard genetic testing, MLPA. Methods: Twenty-six patients enrolled in this study were clinically diagnosed as DMD/BMD in Dr. Sardjito Hospital and Universitas Gadjah Mada Academic Hospital. Genomic DNA was isolated from 3 mL of EDTA-peripheral whole blood samples. The deletion and duplication of DMD genes were detected by MLPA. IHC examination was performed using a specific antibody dystrophin (DYS2). Complete loss of dystrophin staining indicated DMD, while partial loss of dystrophin staining indicated BMD. MLPA result was used as the gold standard to determine sensitivity, specificity, and accuracy of IHC technique using a 2x2 table. Results: MLPA results revealed 18 (18/26; 69.3%) patients with deletion and 3 (3/26; 11.5%) patients with duplication. Five (5/26; 19.2%) patients who showed no deletion nor duplication were excluded from the analysis. Among 21 patients with deletion or duplication, 18 (18/21; 85.7%) patients were out-of-frame (DMD) and 3 (3/21; 14.3%) patients were in-frame (BMD). Six patients showed a discrepancy between the IHC and MLPA results with 9.5% (2/21) false positive and 19% (4/21) false negative. The sensitivity of dystrophin IHC was 77.78%, specificity 33.33%, positive predictive value 87.5%, negative predictive value 20%, and accuracy 71.43%. Conclusion: Muscle biopsy followed by IHC can be one of the diagnostic tools to diagnose BMD or DMD, with high sensitivity. The protein-based strategy is probably the most efficient way to approach the diagnosis of Duchenne and Becker muscular dystrophy in limited health care settings.

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