C.P.15 K7del is a recurrent TPM2 nemaline myopathy mutation associated with joint contractures and increased calcium sensitivity

2012 ◽  
Vol 22 (9-10) ◽  
pp. 845
Author(s):  
N. Mokbel ◽  
B. Ilkovski ◽  
M. Memo ◽  
M. Marttila ◽  
M. Kreissl ◽  
...  
Keyword(s):  
Calcium Sensitivity ◽  
Nemaline Myopathy ◽  
Joint Contractures

Neonatal nemaline myopathy presenting with multiple joint contractures

1985 ◽  
Vol 144 (3) ◽  
pp. 288-290 ◽  
Author(s):  
H. U. Bucher ◽  
E. Boltshauser ◽  
J. Briner
Keyword(s):  
Nemaline Myopathy ◽  
Joint Contractures

scholarly journals K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

Brain ◽  
2013 ◽  
Vol 136 (2) ◽  
pp. 494-507 ◽  
Author(s):  
Nancy Mokbel ◽  
Biljana Ilkovski ◽  
Michaela Kreissl ◽  
Massimiliano Memo ◽  
Cy M. Jeffries ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Calcium Sensitivity ◽  
Nemaline Myopathy

Moyamoya Syndrome in a Child with β-Thalassemia Major

2020 ◽  
Vol 18 (04) ◽  
pp. 214-216
Author(s):  
Soumya Roy
Keyword(s):  
Magnetic Resonance ◽  
Cerebrovascular Accident ◽  
Muscle Wasting ◽  
Thalassemia Major ◽  
Blood Transfusions ◽  
Moyamoya Syndrome ◽  
Magnetic Resonance Angiogram ◽  
Joint Contractures ◽  
Gradual Development ◽  
The Right

AbstractA 9-year-old girl patient presented with left-sided weakness and joint contractures developing over a period of 18 months. She was known to be suffering from β-thalassemia major and was on regular blood transfusions. Eighteen months ago, she had suffered from an episode of ischemic cerebrovascular accident affecting the right side of her brain. Magnetic resonance angiogram revealed vaso-occlusive disease affecting mainly the anterior cerebral circulation, resembling Moyamoya disease. She was advised to carry out regular physiotherapy but her parents discontinued it, which resulted in the gradual development of joint contractures and muscle wasting.

scholarly journals Psychometric validation of the Chinese version of the PaArticular Scales among elderly residents in long-term care facilities with joint contractures

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yi-chang Chen ◽  
Keh-chung Lin ◽  
Chen-Jung Chen ◽  
Shu-Hui Yeh ◽  
Ay-Woan Pan ◽  
...  
Keyword(s):  
World Health Organization ◽  
Long Term Care ◽  
Chinese Version ◽  
World Health ◽  
Term Care ◽  
Joint Contractures ◽  
The World ◽  
Health Organization

Abstract Background Joint contractures, which affect activity, participation, and quality of life, are common complications of neurological conditions among elderly residents in long-term care facilities. This study examined the reliability and validity of the Chinese version of the PaArticular Scales in a population with joint contractures. Methods A cross-sectional study design was used. The sample included elderly residents older than 64 years with joint contractures in an important joint who had lived at one of 12 long-term care facilities in Taiwan for more than 6 months (N = 243). The Chinese version of the PaArticular Scales for joint contractures was generated from the English version through five stages: translation, review, back-translation, review by a panel of specialists, and a pretest. Test-retest reliability, internal consistency reliability, construct validity, and criterion validity were evaluated, and the results were compared with those for the World Health Organization Quality of Life scale and the World Health Organization Disability Assessment Schedule. Results The Chinese version of the PaArticular Scales had excellent reliability, with a Cronbach α coefficient of 0.975 (mean score, 28.98; standard deviation, 17.34). An exploratory factor analysis showed three factors and one factor with an eigenvalue > 1 that explained 75.176 and 62.83 % of the total variance in the Activity subscale and Participation subscale, respectively. The subscale-to-total scale correlation analysis showed Pearson correlation coefficients of 0.881 for the Activity subscale and 0.843 for the Participation subscale. Pearson’s product-moment correlation revealed that the correlation coefficient (r) between the Chinese version of the PaArticular Scales and the World Health Organization Disability Assessment Schedule was 0.770, whereas that for the World Health Organization Quality of Life scale was − 0.553; these values were interpreted as large coefficients. Conclusions The underlying theoretical model of the Chinese version of the PaArticular Scales functions well in Taiwan and has acceptable levels of reliability and validity. However, the Chinese version must be further tested for applicability and generalizability in future studies, preferably with a larger sample and in different clinical domains.

Effects of temperature and concomitant change in pH on muscle

1990 ◽  
Vol 259 (2) ◽  
pp. R204-R209 ◽  
Author(s):  
E. D. Stevens ◽  
R. E. Godt
Keyword(s):  
Ambient Temperature ◽  
Calcium Sensitivity ◽  
Skinned Fibers ◽  
Concomitant Increase ◽  
Concomitant Change ◽  
Effects Of Temperature ◽  
Contractile Performance

Contractile performance decreases with a decrease in temperature and increases with an increase in pH. In general, a decrease in ambient temperature is associated with an increase of the pH of the intracellular and extracellular fluids of ectotherms. Thus the concomitant increase in pH will to some extent counteract the effect of the decrease in temperature. We review the magnitude of this effect and show that it is modest for force (24%) but is small or negligible for speed or for variables involving time. Experiments with skinned fibers yield similar results to those with intact fibers. We argue that one important effect of the concomitant increase in pH is that it causes an increase in calcium sensitivity and that there may be a considerable metabolic saving associated with releasing less calcium at lower temperatures.

scholarly journals Ref2, a regulatory subunit of the yeast protein phosphatase 1, is a novel component of cation homoeostasis

2010 ◽  
Vol 426 (3) ◽  
pp. 355-364 ◽  
Author(s):  
Jofre Ferrer-Dalmau ◽  
Asier González ◽  
Maria Platara ◽  
Clara Navarrete ◽  
José L. Martínez ◽  
...  
Keyword(s):  
Protein Phosphatase ◽  
Living Organism ◽  
Calcium Sensitivity ◽  
Growth Conditions ◽  
Protein Phosphatase 1 ◽  
Regulatory Subunit ◽  
Alkaline Ph ◽  
Yeast Protein ◽  
Increased Sensitivity

Maintenance of cation homoeostasis is a key process for any living organism. Specific mutations in Glc7, the essential catalytic subunit of yeast protein phosphatase 1, result in salt and alkaline pH sensitivity, suggesting a role for this protein in cation homoeostasis. We screened a collection of Glc7 regulatory subunit mutants for altered tolerance to diverse cations (sodium, lithium and calcium) and alkaline pH. Among 18 candidates, only deletion of REF2 (RNA end formation 2) yielded increased sensitivity to these conditions, as well as to diverse organic toxic cations. The Ref2F374A mutation, which renders it unable to bind Glc7, did not rescue the salt-related phenotypes of the ref2 strain, suggesting that Ref2 function in cation homoeostasis is mediated by Glc7. The ref2 deletion mutant displays a marked decrease in lithium efflux, which can be explained by the inability of these cells to fully induce the Na+-ATPase ENA1 gene. The effect of lack of Ref2 is additive to that of blockage of the calcineurin pathway and might disrupt multiple mechanisms controlling ENA1 expression. ref2 cells display a striking defect in vacuolar morphogenesis, which probably accounts for the increased calcium levels observed under standard growth conditions and the strong calcium sensitivity of this mutant. Remarkably, the evidence collected indicates that the role of Ref2 in cation homoeostasis may be unrelated to its previously identified function in the formation of mRNA via the APT (for associated with Pta1) complex.

What Is Fatigue?

2002 ◽  
Vol 27 (1) ◽  
pp. 42-55 ◽  
Author(s):  
Brian R. Macintosh ◽  
Dilson E. Rassier
Keyword(s):  
Contractile Response ◽  
Initial Response ◽  
Calcium Sensitivity ◽  
General Definition ◽  
Light Chains ◽  
Posttetanic Potentiation ◽  
Tetanic Contraction ◽  
First Response ◽  
Definition Of ◽  
Regulatory Light Chain Phosphorylation

Fatigue and potentiation are two forms of force modulation. A general definition of fatigue is "a circumstance where less than the anticipated contractile response is obtained." Fatigue is associated with depressed Ca2+ release and possibly decreased Ca2+ sensitivity. Potentiation results from increased Ca2+ sensitivity due to regulatory light chain phosphorylation. Muscle fatigue and potentiation can coexist, making it difficult to quantify these processes. With repetitive 10 Hz stimulation, the developed tension first increases, then decreases. Is fatigue present when developed tension first begins to decrease or when it falls below the developed tension of the first response? Intermittent incompletely fused tetanic contractions for which peak developed tension first decreases, then increases, is another unusual example of fatigue. A third example is when twitch contractions following a tetanic contraction decrease to a level below the pretetanic twitch amplitude, indicating that fatigue may have been coexistent with posttetanic potentiation. These observations illustrate the complexity of detecting fatigue, based on the simple, but commonly accepted definition presented above. Care must be taken in interpreting "before vs. after" contractile responses. Even when the contraction amplitude is greater than the initial response, there is no guarantee that mechanisms associated with fatigue are not present. Key words: calcium sensitivity, staircase, posttetanic potentiation, myosin light chains, skeletal muscle

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