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
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

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Vishnu Vardhan Reddy Munagala ◽  
Vaishali Tomar ◽  
Amita Aggarwal

Here, we report the case of a 55-year-old man with reactivation of old cutaneous scars associated with a febrile illness, episcleritis, polyarthralgias, erythema nodosum and hilar adenopathy. High-resolution computed tomography (HRCT) revealed right paratracheal, bilateral hilar, and subcarinal lymphadenopathy without any nodular densities in both lung fields. A scar biopsy revealed multiple noncaseating granulomas and confirmed the diagnosis of sarcoidosis. A short course of oral steroids led to regression of systemic symptoms, and the scars returned to baseline size. This patient represented a rare case of simultaneous Löfgren’s syndrome and scar sarcoidosis.


2021 ◽  
Author(s):  
Matheus Moreira Perez ◽  
David Feder, Beatriz da Costa Aguiar Alves ◽  
Fernando Luiz Affonso Fonseca ◽  
Alzira Alves de Siqueira Carvalho

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;


2021 ◽  
Author(s):  
Matthew D. Campbell ◽  
David J. Marcinek

The use of permeabilized muscle fibers (PMF) has emerged as a gold standard for assessing skeletal muscle mitochondrial function. PMF provide an intermediate approach between in vivo strategies and isolated mitochondria that allows the mitochondria to be maintained in close to their native morphology in the myofiber while allowing greater control of substrate and inhibitor concentrations. However, like mitochondrial isolation, the primary drawback to PMF is disruption of the cellular environment during the muscle biopsy and preparation. Despite all the benefits of permeabilized muscle fibers in evaluating mitochondrial respiration and dynamics one of the major drawbacks is increased variability introduced during a muscle biopsy as well as intrinsic variation that exists due to sex and age. This study was designed to evaluate how age, sex, and biopsy preparations affect mitochondrial respiration in extensor digitorum longus, soleus, and gastrocnemius muscle of mice. Here we detail a modified approach to skeletal muscle biopsy of the gastrocnemius muscle of mice focused on maintenance of intact fibers that results in greater overall respiration compared to cut fibers. The improved respiration of intact fibers is sex specific as are some of the changes in mitochondrial respiration with age. This study shows the need for standard practices when measuring mitochondrial respiration in permeabilized muscle and provides a protocol to control for variation introduced during a typical mouse muscle biopsy.


2017 ◽  
Vol 381 ◽  
pp. 473-474
Author(s):  
S. Kimura ◽  
H. Nakanishi ◽  
S. Noda ◽  
A. Murakami ◽  
M. Iijima ◽  
...  

2003 ◽  
Vol 54 (6) ◽  
pp. 790-795 ◽  
Author(s):  
Peter B. Kang ◽  
Hart G. W. Lidov ◽  
William S. David ◽  
Alcy Torres ◽  
Douglas C. Anthony ◽  
...  

2021 ◽  
Author(s):  
Shiyu Wang ◽  
Shailendra Singh

Löfgren’s syndrome presents as acute sarcoid arthritis, with a triad of hilar adenopathy, acute polyarthritis and erythema nodosum. Löfgren’s syndrome is self-limited, erythema nodosum, hilar adenopathy and acute polyarthritis usually resolve within a few weeks to months, however polyarthritis can last for up to 2 years. Treatment involves symptomatic control with NSAIDs/colchicine or oral glucocorticoids until symptoms resolve, if disease is resistant to these therapies, hydroxychloroquine, methotrexate or infliximab can be used. Löfgren’s syndrome is a rare presentation of sarcoidosis occurring in only about 5–10% of sarcoid patients. It is, however, important to recognize as it is the most common form of acute sarcoid arthritis and prompt treatment can prevent unnecessary prolonged discomfort for patients.


2021 ◽  
Vol 29 ◽  
pp. 1-20
Author(s):  
Beatriz Akemi Gonçalves ◽  
Acary Souza Bulle de Oliveira

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.


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