Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0015672 (fatigue)
 51,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present 17 patients with advanced DMD who required long-term assisted ventilation. Eleven patients used part-time assisted ventilation. Five of the patients received BV and/or M-IPPV or N-IPPV between two and nine years before requiring full-time T-IPPV, while six others initially used part-time T-IPPV. One patient used all three modes before requiring full-time T-IPPV. Mean (+/- SD) FVC and rebreathe PCO2 at the outset of assisted ventilation were 0.62 +/- 0.20 L and 47.4 +/- 7.5 mm Hg, respectively. Clinical features were divided between symptoms suggesting respiratory muscle fatigue and sleep-related disordered breathing. We found that, while useful in early respiratory insufficiency, BV is associated with recurrent aspiration. In our experience, N-IPPV offers the safest and most convenient form of noninvasive ventilation. When the VC has decreased to about 300 ml, most patients will require full-time ventilation; T-IPPV is advised to provide airway access to suction secretions.
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PMID:Decline in respiratory function and experience with long-term assisted ventilation in advanced Duchenne's muscular dystrophy. 218 99

This study is designed to analyse the behavior, in the sagittal plane, of a complete human dorso-lumbar rachis, made rigid by the posterior instrumentation used for the treatment of scoliosis, on subjects suffering from DMD (Duchenne Muscular Dystrophy). The object of this analysis is to demonstrate the reliability of early surgery made possible by new instrumentation. Close review of the literature shows that the currently used Harrington or Luque instrumentations lead to mechanical complications, especially rod breaking, at the thoraco-lumbar junction. 8 specimens were non-destructively tested in-vitro. Compression and flexion were applied. For each test, rachis movements with and then without instrumentation, and also rod restraints were noted. The results show a linear stiffness multiplied by 8.3 in flexion and 11.6 in extension. The maximum restraint recorded for physiological displacements is 77 MPa. This remains largely under the fatigue-breaking limit of the metal used (stainless steel hammer-hardened 316 L, Young's modulus = 200,000 MPa, Poisson's ratio = 0.21, endurance limit = 350 MPa at 5 x 10(6) cycles). The results of this study encourage us to continue and develop early surgery in children affected by myopathy, with fixation of the complete rachis, including a lumbo-sacral arthrodesis and a supple dorsal part of the mounting, in the sagittal plane.
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PMID:In-vitro biomechanical study of a dorso-lumbo-sacral posterior supple instrumentation with variable section. 893 35

A social and psychological survey was conducted for patients with DMD submitted to home mechanical ventilation for more than one year. Thirty six were tracheostomized and 16 were using non invasive ventilation. Fifty two patients were recruited: 36 were tracheostomized and 16 were using non invasive ventilation. Mean age was 25 +/- 5 years. In the two groups: 1- the main disagreement was air leaking and cutaneous erosions. 2- when present, headache, dyspnea, sleep troubles and general fatigue were improved by mechanical ventilation. 3- ventilation was considered as improving health but with an increasing of dependencies. 4- Majors disappointment are sexual life (70 percent) and physical status (40 percent) but patients spent more than half time with positive feeling (92 percent). There was no difference between satisfaction evaluation and type of ventilation. Home ventilated patients with DMD have positive assessment of satisfaction. Despite technical disagreement as air leaking, patients feel an improvement of their life and advise other DMD to use early home ventilation.
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PMID:[Assessment of quality of life for home ventilated patients with Duchenne muscular dystrophy]. 1198 88

Corticosteroid therapy for Duchenne muscular dystrophy is effective but associated with long-term side effects. To determine the potential therapeutic benefit from four nutritional compounds (creatine monohydrate, conjugated linoleic acid, alpha-lipoic acid, and beta-hydroxy-beta-methylbutyrate) alone, in combination, and with corticosteroids (prednisolone), we evaluated the effects on several variables in exercising mdx mice. Outcome measures included grip strength, rotarod performance, serum creatine kinase levels, muscle metabolites, internalized myonuclei, and retroperitoneal fat pad weight. In isolation, each nutritional treatment showed some benefit, with the combination therapy showing the most consistent benefits. Prednisolone and the combination therapy together provided the most consistent evidence of efficacy; increased peak grip strength (P < 0.05), decreased grip strength fatigue (P < 0.05), decreased number of internalized myonuclei (P < 0.01), and smaller retroperitoneal fat pad stores (P < 0.001). This study provided evidence for therapeutic benefit from a four-compound combination therapy alone, and in conjunction with corticosteroids in the mdx model of DMD.
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PMID:Nutritional therapy improves function and complements corticosteroid intervention in mdx mice. 1614 47

This study aimed to investigate possible asymmetries and relationships between performance of dominant and non-dominant upper limbs (UL) in patients with Duchenne and Becker muscular dystrophies (DMD/BMD), to compare UL performance of patients and healthy subjects and to investigate the relationship between timed performance of UL and age, motor function and muscle strength in DMD/BMD patients. Sixteen patients with DMD and 3 with BMD were evaluated with Jebsen-Taylor Test (timed performance), Vignos scale and Dimension 3 of Motor Function Measure (motor function), and Medical Research Council scale (muscle strength) on a single session. ANOVA showed no asymmetry between dominant and non-dominant UL, except in the writing subtest, in patients and in healthy controls. There were relationships between dominant and non-dominant UL performances. Correlations between timed performance, motor function and muscle strength were found, but age was not correlated with these variables. These findings may reduce the assessment time, prevent fatigue and provide more accurate clinical reasoning involving UL in DMD/BMD treatment.
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PMID:Patients with Duchenne and Becker muscular dystrophies are not more asymmetrical than healthy controls on timed performance of upper limb tasks. 2874 22

Neuronal nitric oxide synthase (nNOS) is involved in nitric oxide (NO) production and suggested to play a crucial role in blood flow regulation of skeletal muscle. During activation of the muscle, NO helps attenuate the sympathetic vasoconstriction to accommodate increased metabolic demands, a phenomenon known as functional sympatholysis. In inherited myopathies such as the dystrophinopathies Duchenne and Becker muscle dystrophies (DMD and BMD), nNOS is lost from the sarcolemma. The loss of nNOS may cause functional ischemia contributing to skeletal and cardiac muscle cell injury. Effects of NO is augmented by inhibiting degradation of the second messenger cyclic guanosine monophosphate (cGMP) using sildenafil and tadalafil, both of which inhibit the enzyme phosphodiesterase 5 (PDE5). In animal models of DMD, PDE5-inhibitors prevent functional ischemia, reduce post-exercise skeletal muscle pathology and fatigue, show amelioration of cardiac muscle cell damage and increase cardiac performance. However, effect on clinical outcomes in DMD and BMD patients have been disappointing with minor effects on upper limb performance and none on ambulation. This review aims to summarize the current knowledge of nNOS function related to functional sympatholysis in skeletal muscle and studies on PDE5-inhibitor treatment in nNOS-deficient animal models and patients.
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PMID:Role of neuronal nitric oxide synthase (nNOS) in Duchenne and Becker muscular dystrophies - Still a possible treatment modality? 3035 68