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

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

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.

α-Actinin and myosin light chains in congenital nemaline myopathy

1990 ◽  
Vol 6 (3) ◽  
pp. 171-174 ◽  
Author(s):  
Carina Wallgren-Pettersson ◽  
Pirkko Arjomaa ◽  
Christer Holmberg
Keyword(s):  
Nemaline Myopathy ◽  
Light Chains ◽  
Myosin Light Chains

Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy

2014 ◽  
Vol 24 (7) ◽  
pp. 642-647 ◽  
Author(s):  
Satoko Miyatake ◽  
Eriko Koshimizu ◽  
Yukiko K. Hayashi ◽  
Kazushi Miya ◽  
Masaaki Shiina ◽  
...  
Keyword(s):  
Deep Sequencing ◽  
Somatic Mosaicism ◽  
Nemaline Myopathy ◽  
Low Grade

Neonatal-onset nemaline myopathy mimicking congenital diaphragmatic hernia

2007 ◽  
Vol 42 (7) ◽  
pp. e19-e22 ◽  
Author(s):  
Olivier Danhaive ◽  
Simona Lozzi ◽  
Adele D'amico ◽  
Rita Devito ◽  
Renata Boldrini ◽  
...  
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Nemaline Myopathy ◽  
Neonatal Onset

scholarly journals Potential causes of sudden cardiac death in nemaline myopathy

2015 ◽  
Vol 41 (1) ◽  
Author(s):  
Josef Finsterer ◽  
Marlies Frank
Keyword(s):  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Nemaline Myopathy

Rod Distribution and Muscle Fiber Type Modification in the Progression of Nemaline Myopathy

2003 ◽  
Vol 18 (3) ◽  
pp. 235-240 ◽  
Author(s):  
Umbertina C. Reed ◽  
Sueli K. Marie ◽  
Edmar Zanoteli ◽  
Moacir A. T. Fireman ◽  
Acary S. B. Oliveira ◽  
...  
Keyword(s):  
Muscle Fiber ◽  
Fiber Type ◽  
Nemaline Myopathy ◽  
Muscle Fiber Type
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