A novel gly290asp mitochondrial cytochromebmutation linked to a complex III deficiency in progressive exercise intolerance

1996 ◽  
Vol 10 (5) ◽  
pp. 389-391 ◽  
Author(s):  
R. Dumoulin ◽  
I. Sagnol ◽  
T. Ferlin ◽  
D. Bozon ◽  
G. Stepien ◽  
...  
Keyword(s):  
Complex Iii ◽  
Exercise Intolerance ◽  
Progressive Exercise

Chronic cardiac tamponade in a cat caused by an intrapericardial biliary cyst

2010 ◽  
Vol 12 (4) ◽  
pp. 338-340 ◽  
Author(s):  
Sarah M. Scruggs ◽  
Janice M. Bright
Keyword(s):  
Cardiac Tamponade ◽  
Clinical Signs ◽  
Exercise Intolerance ◽  
Two Dimensional ◽  
Percutaneous Aspiration ◽  
Biliary Cyst ◽  
Progressive Exercise ◽  
History Of ◽  
Dimensional Echocardiography ◽  
Two Dimensional Echocardiography

A 1-year-old domestic longhair cat presented to our hospital with a 4-month history of progressive exercise intolerance and coughing. Two-dimensional echocardiography confirmed the presence of an intrapericardial cyst and cardiac tamponade. Tamponade was relieved via percutaneous aspiration of the cyst. The cyst was surgically excised 4 days later, and histopathology was consistent with a biliary cyst. The cat's clinical signs completely resolved following surgery.

Congenital bilateral laryngeal paralysis in a 10-month-old English springer spaniel

2019 ◽  
Vol 7 (2) ◽  
pp. e000746
Author(s):  
Maria Zurita ◽  
Lara Dempsey
Keyword(s):  
Case Report ◽  
General Anaesthesia ◽  
Old English ◽  
Blood Test ◽  
Exercise Intolerance ◽  
Uneventful Recovery ◽  
Surgical Department ◽  
Laryngeal Paralysis ◽  
First Case ◽  
Progressive Exercise

This report describes a 10-month-old female, English springer spaniel that was referred to the surgical department for investigation of progressive exercise intolerance and stridor. After performing a complete blood test, thorough examination of the airway under a light plane of anaesthesia and CT of the head and thorax under general anaesthesia, bilateral laryngeal paralysis was diagnosed. Due to the dog’s age and the absence of other aetiologies and neurological abnormalities, a diagnosis of congenital laryngeal paralysis was reached.Unilateral arytenoid lateralisation was performed with cricoarytenoid and thyroarytenoid sutures. The dog had an uneventful recovery and was successfully discharged the day following surgery with no recurrent respiratory signs for six months postoperatively (at the time this case report was written). This is the first case report that describes congenital bilateral laryngeal paralysis in an English springer spaniel.

scholarly journals Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance

2018 ◽  
Vol 6 (3) ◽  
pp. 499-501
Author(s):  
Maryam Nabavi Nouri ◽  
Anne-Marie Lamhonwah ◽  
Ingrid Tein
Keyword(s):  
Exercise Intolerance ◽  
Progressive Exercise

scholarly journals Homoplasmic mitochondrial tRNAPro mutation causing exercise-induced muscle swelling and fatigue

2020 ◽  
Vol 6 (4) ◽  
pp. e480
Author(s):  
Karine Auré ◽  
Guillemette Fayet ◽  
Ivan Chicherin ◽  
Benoit Rucheton ◽  
Sandrine Filaut ◽  
...  
Keyword(s):  
Plasma Membrane ◽  
Complex Iii ◽  
Exercise Intolerance ◽  
Base Modification ◽  
Muscle Histology ◽  
Severe Exercise ◽  
Muscle Edema ◽  
Exercise Induced ◽  
Species Production ◽  
Low Complex

ObjectiveTo demonstrate the causal role in disease of the MT-TP m.15992A>T mutation observed in patients from 5 independent families.MethodsLactate measurement, muscle histology, and mitochondrial activities in patients; PCR-based analyses of the size, amount, and sequence of muscle mitochondrial DNA (mtDNA) and proportion of the mutation; respiration, mitochondrial activities, proteins, translation, transfer RNA (tRNA) levels, and base modification state in skin fibroblasts and cybrids; and reactive oxygen species production, proliferation in the absence of glucose, and plasma membrane potential in cybrids.ResultsAll patients presented with severe exercise intolerance and hyperlactatemia. They were associated with prominent exercise-induced muscle swelling, conspicuous in masseter muscles (2 families), and/or with congenital cataract (2 families). MRI confirmed exercise-induced muscle edema. Muscle disclosed severe combined respiratory defect. Muscle mtDNA had normal size and amount. Its sequence was almost identical in all patients, defining the haplotype as J1c10, and sharing 31 variants, only 1 of which, MT-TP m.15992A>T, was likely pathogenic. The mutation was homoplasmic in all tissues and family members. Fibroblasts and cybrids with homoplasmic mutation had defective respiration, low complex III activity, and decreased tRNAPro amount. Their respiratory complexes amount and tRNAPro aminoacylation appeared normal. Low proliferation in the absence of glucose demonstrated the relevance of the defects on cybrid biology while abnormal loss of cell volume when faced to plasma membrane depolarization provided a link to the muscle edema observed in patients.ConclusionsThe homoplasmic MT-TP m.15992A>T mutation in the J1c10 haplotype causes exercise-induced muscle swelling and fatigue.

Decreased expression o ubiquinol-cytochrome c reductase subunits in patients exhibiting mitochondrial myopathy with progressive exercise intolerance

1993 ◽  
Vol 3 (5-6) ◽  
pp. 599-604 ◽  
Author(s):  
Mohamed Fouad Bouzidi ◽  
Hermann Schägger ◽  
Jean-Marc Collombet ◽  
Henri Carrier ◽  
Frédéric Flocard ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Mitochondrial Myopathy ◽  
Exercise Intolerance ◽  
Cytochrome C Reductase ◽  
Progressive Exercise

Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochromeb gene

2003 ◽  
Vol 28 (4) ◽  
pp. 508-511 ◽  
Author(s):  
Claudio Bruno ◽  
Filippo M. Santorelli ◽  
Stefania Assereto ◽  
Emmanuel Tonoli ◽  
Alessandra Tessa ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Exercise Intolerance ◽  
Progressive Exercise ◽  
Cytochromeb Gene

Glittre ADL test in eutrophic, overweight and obese elderly

2020 ◽  
Vol 21 (1) ◽  
pp. 49
Author(s):  
Augusto Baumhardt Guidoti ◽  
Ângelo Pereira Cattani ◽  
Cintia Laura De Araujo ◽  
Fernanda Beatriz Costa Delacoste ◽  
Guilherme Scotta Hentschke ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Functional Capacity ◽  
Elderly Women ◽  
Handgrip Strength ◽  
Exercise Intolerance ◽  
World Health ◽  
Chronic Obstructive ◽  
Cross Sectional ◽  
World Health Organization Quality

The Glittre ADL-test (TGlittre) has been designed and validated to measure functional capacity during daily living activities in patients with chronic obstructive pulmonary disease (COPD) but is now used in several other situations. The aim of this study was to evaluate the applicability of TGlittre in a sample of overweight and obese eutrophic elderly. This was an experimental and cross-sectional study, which included 21 elderly women, allocated by BMI, in eutrophic (n = 8), overweight (n = 6) and obese (n = 7) groups. They were assessed for functional capacity (TGlittre and 6MWT), quality of life (QOL) with the questionnaire World Health Organization Quality of Life for Older People (WHOQOL-OLD) and handgrip strength (HGS). TGlittre correlated with age (p = 0.0040) and with 6MWT (p = 0.0086), but no statistical difference was found in TGlittre's performance time and the distance covered in 6MWT between groups. TGlittre did not correlate with HGS (p = 0.1493) and WHOQOL-Old (p = 0.0905). The data obtained in the present study corroborate that TGlittre is used as a functional measurement variable in the elderly population.Keywords: aged, obesity, exercise intolerance.­­­

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