Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Profound decrease of the carnitine acetyltransferase activity (0.08 U/g wet weight; 1.67% of control) and carnitine deficiency (total carnitine was 230 nmol/g wet weight in the patient vs 2730 in the controls) was detected in the skeletal muscle of a female paediatric patient. She died of her illness, which included cerebellar symptoms and slight muscle spasticity affecting mainly the lower extremities, at 1 year of age. Histological examination of the autopsy specimens revealed a selective Purkinje cell degeneration in the cerebellum: the cells had abnormal position, were shrunken and decreased in number, and displayed abnormal dendritic trees and fragmented, disorganized axons. Electron microscopy revealed mitochondrial abnormalities in skeletal and cardiac muscle and also in the Purkinje cells. Deletions of the mitochondrial DNA were detected in the muscle in heteroplasmic form (up to 7%). Mainly the ND4-ND4L region was affected, as evidenced by the PCR; however, other regions of the mitochondrial genome also showed deletions of varying size and extent, suggesting multiple deletions of the mitochondrial DNA.
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PMID:Muscle carnitine acetyltransferase and carnitine deficiency in a case of mitochondrial encephalomyopathy. 1051 84

The presence and progression of neuromuscular pathology, including spasticity, Duchenne's muscular dystrophy and hyperthyroidism, has been correlated with changes in the intrinsic mechanical properties of skeletal muscle tissue. Tools for noninvasively measuring and monitoring these properties, such as Magnetic Resonance Elastography (MRE), could benefit basic research into understanding neuromuscular pathologies, as well as translational research to develop therapies, by providing a means of assessing and tracking their efficacy. Dynamic elastography methods for noninvasive measurement of tissue mechanical properties have been under development for nearly three decades. Much of the technological development to date, for both Ultrasound (US)-based and Magnetic Resonance Imaging (MRI)-based strategies, has been grounded in assumptions of local homogeneity and isotropy. Striated skeletal and cardiac muscle, as well as brain white matter and soft tissue in some other organ regions, exhibit a fibrous microstructure which entails heterogeneity and anisotropic response; as one seeks to improve the accuracy and resolution in mechanical property assessment, heterogeneity and anisotropy need to be accounted for in order to optimize both the dynamic elastography experimental protocol and the interpretation of the measurements. Advances in elastography methodology at every step have been aided by the use of tissue-mimicking phantoms. The aim of the present study was to develop and characterize a heterogeneous composite phantom design with uniform controllable anisotropic properties meant to be comparable to the frequency-dependent anisotropic properties of skeletal muscle. MRE experiments and computational finite element (FE) studies were conducted on a novel 3D-printed composite phantom design. The displacement maps obtained from simulation and experiment show the same elliptical shaped wavefronts elongated in the plane where the structure presents higher shear modulus. The model exhibits a degree of anisotropy in line with literature data from skeletal muscle tissue MRE experiments. FE simulations of the MRE experiments provide insight into proper interpretation of experimental measurements, and help to quantify the importance of heterogeneity in the anisotropic material at different scales.
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PMID:Anisotropic composite material phantom to improve skeletal muscle characterization using magnetic resonance elastography. 3029 69