A Novel Exercise Testing Algorithm to Diagnose Mitochondrial Myopathy

2021 ◽  
Author(s):  
Rajeev Bhatia ◽  
Bruce H. Cohen ◽  
Neil McNinch
Keyword(s):  
Exercise Testing ◽  
Mitochondrial Myopathy ◽  
Testing Algorithm

scholarly journals Exercise Testing, Physical Training and Fatigue in Patients with Mitochondrial Myopathy Related to mtDNA Mutations

2021 ◽  
Vol 10 (8) ◽  
pp. 1796
Author(s):  
Tina D. Jeppesen ◽  
Karen L. Madsen ◽  
Nanna S. Poulsen ◽  
Nicoline Løkken ◽  
John Vissing
Keyword(s):  
Exercise Testing ◽  
Mitochondrial Myopathy ◽  
Diagnostic Yield ◽  
Exercise Intolerance ◽  
Common Symptom ◽  
Mtdna Mutation ◽  
Exercise Tests ◽  
Treatment Interventions ◽  
Mtdna Mutations ◽  
The Individual

Mutations in mitochondrial DNA (mtDNA) cause disruption of the oxidative phosphorylation chain and impair energy production in cells throughout the human body. Primary mitochondrial disorders due to mtDNA mutations can present with symptoms from adult-onset mono-organ affection to death in infancy due to multi-organ involvement. The heterogeneous phenotypes that patients with a mutation of mtDNA can present with are thought, at least to some extent, to be a result of differences in mtDNA mutation load among patients and even among tissues in the individual. The most common symptom in patients with mitochondrial myopathy (MM) is exercise intolerance. Since mitochondrial function can be assessed directly in skeletal muscle, exercise studies can be used to elucidate the physiological consequences of defective mitochondria due to mtDNA mutations. Moreover, exercise tests have been developed for diagnostic purposes for mitochondrial myopathy. In this review, we present the rationale for exercise testing of patients with MM due to mutations in mtDNA, evaluate the diagnostic yield of exercise tests for MM and touch upon how exercise tests can be used as tools for follow-up to assess disease course or effects of treatment interventions.

scholarly journals Cardiopulmonary exercise testing in clinical practice

2021 ◽  
Vol 3 (2) ◽  
pp. 58-70
Author(s):  
Oleg B. Kerbikov ◽  
Alexander V. Averyanov ◽  
Ekaterina N. Borskaya ◽  
Tamara V. Krutova
Keyword(s):  
Clinical Practice ◽  
Exercise Testing ◽  
Mitochondrial Myopathy ◽  
Lung Diseases ◽  
Pulmonary Resection ◽  
Cardiopulmonary Exercise Testing ◽  
Skeletal Muscle Fiber ◽  
Testing Methods ◽  
Cardiopulmonary Exercise ◽  
Physiological Values

The review is dedicated to the use of the cardiopulmonary exercise testing (CPET) in clinical practice. Main modes of CPET, most popular protocols and testing methods are discussed in details. Ample space is dedicated to main parameters measuring during CPET, their physiological values and changes in different pathological states. Main indications for CPET are presented and special attention is given to the use of CPET in chronic heart failure, apnea, lung diseases, skeletal muscle fiber and mitochondrial myopathy, rehabilitation. Emerging applications of CPET like congenital heart disease, pulmonary resection and several other are also discussed.

Some Observations on Intra-Mitochondrial Crystals

1977 ◽  
Vol 35 ◽  
pp. 406-407
Author(s):  
J. A. Clarke ◽  
D. N. Landon ◽  
P. R. Ward
Keyword(s):  
Cytochrome B ◽  
Mitochondrial Myopathy ◽  
Crystallographic Analysis ◽  
Mitochondrial Membranes ◽  
Electron Microscopes ◽  
Muscle Biopsies

Intra-mitochondrial crystals have been noted in muscle biopsies from patients in a wide variety of diseased states. As far as we are aware, none of these crystals have been subjected to detailed crystallographic analysis. Recently, similar crystals were observed in a biopsy from a patient with a mitochondrial myopathy, characterised by a deficiency in reducible cytochrome b (Morgan-Hughes, J. A., Darveniza, P., Kahn, S. N., Landon, D. N., Sherratt, R. M., Land, J. M. and Clark, J. B., 1977, Brain, In Press). Aldehyde-fixed, osmicated resin imbedded material was examined using Siemens, JEOL and Phillips electron microscopes with goniometer specimen stages. The crystals generally lay between the outer and inner mitochondrial membranes and measured 1 - 3 μm in length and 0.1 - 0.3 μm in width. Characteristically, these crystals revealed specific periodicities.

Exercise Testing and Interpretation

2001 ◽  
Author(s):  
Christopher B. Cooper ◽  
Thomas W. Storer
Keyword(s):  
Exercise Testing

Off-Pump Supraarterial Decompression Myotomy for Myocardial Bridging

2005 ◽  
Vol 8 (1) ◽  
pp. 49 ◽  
Author(s):  
Mersa M. Baryalei ◽  
Theodorus Tirilomis ◽  
Wolfgang Buhre ◽  
Stephan Kazmaier ◽  
Friedrich A. Schoendube ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Exercise Testing ◽  
Clinical Symptoms ◽  
Therapeutic Option ◽  
Median Sternotomy ◽  
Myocardial Bridging ◽  
Off Pump ◽  
Hemodynamic Compromise ◽  
Artery Disease ◽  
The Right

Background: Myocardial bridging of the left anterior descending (LAD) artery may result in clinical symptoms. Surgery with cardiopulmonary bypass (CPB) is a therapeutic option with considerable risk. We hypothesized that off-pump supraarterial myotomy could be an effective treatment modality. Methods: Between October 1998 and May 2000, 13 patients were referred for surgery. All were symptomatic despite medical therapy. Anteroseptal ischemia had been proven by thallium scintigraphy in all 13 patients, exercise testing was positive in 11. All patients were operated on with an off-pump approach after median sternotomy. Results: Mean patient age was 61 8 years (range, 43-71 years). Coronary artery disease mandating additional bypasses was present in 3 patients. The bypasses were done off pump in 2 patients. Conversion to on-pump surgery was necessary in 3 of 13 patients (23%) because of hemodynamic compromise (1 patient), opening of the right ventricle (1 patient), and injury to the LAD (1 patient). Supraarterial myotomy was performed in all patients. One patient who underwent surgery with CPB developed postoperative anteroseptal myocardial infarction. Postoperative exercise testing was performed in all patients and did not reveal any persistent ischemia. Mortality was 0%. All patients were free from symptoms and had not undergone repeat interventions after an average of 51 7 months of follow-up. Conclusions: Off-pump supraarterial myotomy effectively relieves coronary obstruction but has a certain periprocedural risk as evidenced by 1 myocardial infarction, 1 right ventricular injury, and 1 LAD injury. Long-term freedom from symptoms and from reintervention favor further investigation of this surgical therapy.

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