| 1. |
- Bushby, Katharine, et al.
(författare)
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Ataluren treatment of patients with nonsense mutation dystrophinopathy.
- 2014
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Ingår i: Muscle & nerve. - : Wiley. - 1097-4598 .- 0148-639X. ; 50:4, s. 477-87
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Tidskriftsartikel (refereegranskat)abstract
- Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders.
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| 2. |
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| 3. |
- Henricson, E. K., et al.
(författare)
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The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures
- 2013
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Ingår i: Muscle & Nerve. - : Wiley. - 0148-639X. ; 48:1, s. 55-67
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Glucocorticoid (GC) therapy in Duchenne muscular dystrophy (DMD) has altered disease progression, necessitating contemporary natural history studies. Methods: The Cooperative Neuromuscular Research Group (CINRG) DMD Natural History Study (DMD-NHS) enrolled 340 DMD males, ages 2-28 years. A comprehensive battery of measures was obtained. Results: A novel composite functional milestone scale scale showed clinically meaningful mobility and upper limb abilities were significantly preserved in GC-treated adolescents/young adults. Manual muscle test (MMT)-based calculations of global strength showed that those patients <10 years of age treated with steroids declined by 0.4 +/- 0.39 MMT unit/year, compared with -0.4 +/- 0.39 MMT unit/year in historical steroid-naive subjects. Pulmonary function tests (PFTs) were relatively preserved in steroid-treated adolescents. The linearity and magnitude of decline in measures were affected by maturational changes and functional status. Conclusions: In DMD, long-term use of GCs showed reduced strength loss and preserved functional capabilities and PFTs compared with previous natural history studies performed prior to the widespread use of GC therapy.
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| 4. |
- Lieber, R. L., et al.
(författare)
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Inferior mechanical properties of spastic muscle bundles due to hypertrophic but compromised extracellular matrix material
- 2003
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Ingår i: Muscle Nerve. - 0148-639X. ; 28:4, s. 464-71
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Tidskriftsartikel (refereegranskat)abstract
- The passive mechanical properties of small muscle fiber bundles obtained from surgical patients with spasticity (n = 9) and patients without neuromuscular disorders (n = 21) were measured in order to determine the relative influence of intracellular and extracellular components. For both types of patient, tangent modulus was significantly greater in bundles compared to identical tests performed on isolated single cells (P < 0.05). However, the relative difference between bundles and single cells was much greater in normal tissue than spastic tissue. The tangent modulus of normal bundles (462.5 +/- 99.6 MPa) was 16 times greater than normal single cells (28.2 +/- 3.3 MPa), whereas the tangent modulus of spastic bundles (111.2 +/- 35.5 MPa) was only twice that of spastic muscle cells (55.0 +/- 6.6 MPa). This relatively small influence of the extracellular matrix (ECM) in spastic muscle was even more surprising because spastic muscle cells occupied a significantly smaller fraction of the total specimen area (38.5 +/- 13.6%) compared to normal muscle (95.0 +/- 8.8%). Based on these data, normal muscle ECM is calculated to have a modulus of 8.7 GPa, and the ECM from spastic muscle of only 0.20 GPa. These data indicate that spastic muscle, although composed of cells that are stiffer compared to normal muscle, contains an ECM of inferior mechanical strength. The present findings illustrate some of the profound changes that occur in skeletal muscle secondary to spasticity. The surgical implications of these results are discussed.
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| 7. |
- Norrsell, Ulf, 1937, et al.
(författare)
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Tactile directional sensibility and diabetic neuropathy.
- 2001
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Ingår i: Muscle & nerve. - 0148-639X. ; 24:11, s. 1496-502
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Tidskriftsartikel (refereegranskat)abstract
- Five different procedures used to diagnose neuropathy were compared in a "blind" study with diabetic patients. The aim was to evaluate tests of tactile directional sensibility. Three matched groups were examined, two groups with type I diabetes, either with or without suspected neuropathy, and one of healthy controls. Testing consisted of: (1) examination by a specialist in neurology, (2) electrophysiologic measurement of nerve conduction velocity and determination of cool sensitivity, and (3) determination of directional sensibility in two stages, with categorical and quantitative techniques. Abnormal test results were obtained for both groups of diabetic patients. Quantitatively measured directional sensibility had the highest sensitivity (89%) and specificity (85%) when calculated for patients who had received a diagnosis of neuropathy from the neurologist, despite one case of abnormal directional sensibility among the healthy controls. Conduction velocity testing was almost comparably sensitive (80%) and cool sensitivity, comparably specific (85%) when calculated in the same manner.
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| 9. |
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| 10. |
- Wallin, Gunnar B, 1936, et al.
(författare)
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Sympathetic neural control of integrated cardiovascular function: insights from measurement of human sympathetic nerve activity.
- 2007
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Ingår i: Muscle & nerve. - : Wiley. - 0148-639X .- 1097-4598. ; 36:5, s. 595-614
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Forskningsöversikt (refereegranskat)abstract
- Sympathetic neural control of cardiovascular function is essential for normal regulation of blood pressure and tissue perfusion. In the present review we discuss sympathetic neural mechanisms in human cardiovascular physiology and pathophysiology, with a focus on evidence from direct recordings of sympathetic nerve activity using microneurography. Measurements of sympathetic nerve activity to skeletal muscle have provided extensive information regarding reflex control of blood pressure and blood flow in conditions ranging from rest to postural changes, exercise, and mental stress in populations ranging from healthy controls to patients with hypertension and heart failure. Measurements of skin sympathetic nerve activity have also provided important insights into neural control, but are often more difficult to interpret since the activity contains several types of nerve impulses with different functions. Although most studies have focused on group mean differences, we provide evidence that individual variability in sympathetic nerve activity is important to the ultimate understanding of these integrated physiological mechanisms.
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