P.1.14 Knee extensor muscle force correlates with and may predict sit to stand ability in congenital muscular dystrophy

2013 ◽  
Vol 23 (9-10) ◽  
pp. 745-746
Author(s):  
M. Jain ◽  
D. Hall ◽  
M. Waite ◽  
J. Collins ◽  
K. Meilleur ◽  
...  
2016 ◽  
Vol 48 ◽  
pp. 886
Author(s):  
John Ramsay ◽  
Clifford L. Hancock ◽  
Meghan P. O’Donovan ◽  
Tyler Brown

2009 ◽  
Vol 28 (3) ◽  
pp. 123-128 ◽  
Author(s):  
Yohei Takai ◽  
Megumi Ohta ◽  
Ryota Akagi ◽  
Hiroaki Kanehisa ◽  
Yasuo Kawakami ◽  
...  

2019 ◽  
Vol 29 ◽  
pp. S168-S169
Author(s):  
T. Sato ◽  
N. Taniguchi ◽  
K. Ishiguro ◽  
M. Shichiji ◽  
T. Murakami ◽  
...  

2021 ◽  
Vol 22 (8) ◽  
pp. 4256
Author(s):  
Lorenzo Maggi ◽  
Manolis Mavroidis ◽  
Stelios Psarras ◽  
Yassemi Capetanaki ◽  
Giovanna Lattanzi

Intermediate filaments are major components of the cytoskeleton. Desmin and synemin, cytoplasmic intermediate filament proteins and A-type lamins, nuclear intermediate filament proteins, play key roles in skeletal and cardiac muscle. Desmin, encoded by the DES gene (OMIM *125660) and A-type lamins by the LMNA gene (OMIM *150330), have been involved in striated muscle disorders. Diseases include desmin-related myopathy and cardiomyopathy (desminopathy), which can be manifested with dilated, restrictive, hypertrophic, arrhythmogenic, or even left ventricular non-compaction cardiomyopathy, Emery–Dreifuss Muscular Dystrophy (EDMD2 and EDMD3, due to LMNA mutations), LMNA-related congenital Muscular Dystrophy (L-CMD) and LMNA-linked dilated cardiomyopathy with conduction system defects (CMD1A). Recently, mutations in synemin (SYNM gene, OMIM *606087) have been linked to cardiomyopathy. This review will summarize clinical and molecular aspects of desmin-, lamin- and synemin-related striated muscle disorders with focus on LMNA and DES-associated clinical entities and will suggest pathogenetic hypotheses based on the interplay of desmin and lamin A/C. In healthy muscle, such interplay is responsible for the involvement of this network in mechanosignaling, nuclear positioning and mitochondrial homeostasis, while in disease it is disturbed, leading to myocyte death and activation of inflammation and the associated secretome alterations.


2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
H Watanabe ◽  
A Koike ◽  
H Kato ◽  
L Wu ◽  
K Hayashi ◽  
...  

Abstract Background Recent Cochrane Systematic Review suggested that the participation in cardiac rehabilitation is associated with approximately 20% lower cardiovascular mortality and morbidity. Exercise therapy is the key component of cardiac rehabilitation programs. In recent years, innovative technologies have been introduced into the field of rehabilitation, and a typical example is the wearable cyborg Hybrid Assistive Limb (HAL). The wearable cyborg HAL provides motion assistance based on detection of bioelectrical signals on the skin surface when muscle forces are generated. The lumbar-type HAL is expected to expand the therapeutic options for severe cardiac patients who have difficulty in performing usual cardiac rehabilitation programs, such as bicycle pedaling or walking. Purpose We aim to compare the efficacy of exercise therapy performed with motion assistance from a lumbar-type HAL versus conventional training (sit-to-stand exercise without HAL) in patients with chronic heart failure. Methods This clinical trial is a randomized, non-blinded, and controlled study. Twenty-eight heart failure patients (73.1±13.8 years) who have difficulty in walking at the usual walking speed of healthy subjects were randomly assigned to 2 groups (HAL group or control group) with a 1:1 allocation ratio and performed sit-to stand exercise either with HAL or without HAL for 5 to 30 minutes once a day, and 6 to 10 days during the study period. The brain natriuretic peptide (BNP), isometric knee extensor strength, standing ability (30-seconds chair-stand test: CS-30), short physical performance battery (SPPB) and 6-minute walking distance (6MWD) were measured before and after the completion of cardiac rehabilitation. Cardiac events such as death, re-hospitalization, myocardial infarction and worsening of angina pectoris and heart failure during 1 year after discharge were evaluated. Results There was no significant difference in the number of days of exercise therapy between the two groups. BNP, SPPB and 6MWD were improved in both groups. In the HAL group, the isometric knee extensor strength (0.29±0.11 vs 0.35±0.11 kgf/kg, p=0.003) significantly improved and CS-30 (5.5±5.1 vs 8.2±5.3, p=0.054) tended to improve. However, in the control group, either the isometric knee extensor strength (0.35±0.11 vs 0.36±0.14 kgf/kg, p=0.424) or CS-30 (6.0±4.3 vs 9.2±6.2, p=0.075) did not significantly change. HAL group showed significantly more improvement in the isometric knee extensor strength than control group (p=0.045). Cardiac events occurred in 20% in the HAL group and 43% in the control group. Conclusion The improvement in isometric knee extensor strength with the assistance from lumbar-type HAL suggests that exercise therapy using this device may be useful in chronic heart failure patients with flail or sarcopenia, a strong poor prognostic factor in these patients. Funding Acknowledgement Type of funding source: Public grant(s) – National budget only. Main funding source(s): This work was supported in part by a grant-in-aid for Scientific Research from the Ministry of Education, Science, and Culture of Japan (JSPS KAKENHI grant number JP17K09485) and funded by the ImPACT Program of the Council for Science, Technology and Innovation (Cabinet Office, Government of Japan) (grant number 2017-PM05-03-01).


2008 ◽  
Vol 24 (2) ◽  
pp. 194-196 ◽  
Author(s):  
Yoji Kusuyama ◽  
Hirokazu Nakamine ◽  
Toru Nishihara ◽  
Koji Saito ◽  
Hitoshi Kawamura ◽  
...  

Author(s):  
Mainak Bardhan ◽  
Kiran Polavarapu ◽  
Nandeesh N. Bevinahalli ◽  
Preethish-Kumar Veeramani ◽  
Ram Murthy Anjanappa ◽  
...  

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