Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical, electromyographic, and histologic characteristics of a 17-year-old girl with reducing body myopathy are described. She is, to our knowledge, the oldest reported case and the only patient described with severe mitral valve prolapse and scoliosis. Electromyography demonstrated spontaneous positive sharp waves and fibrillation potentials with many low-amplitude, short, polyphasic motor unit potentials. The right deltoid muscle was characterized by focal areas with large fibers associated with increased endomysial connective tissue and "split" fibers. Purple-gray sarcoplasmic masses stained with trichrome were PAS-negative, appeared as "empty" spaces with both ATPase and NADH-TR, and stained darkly with menadione NBT. The features described expand the clinical presentation of this myopathy, and may lead to a better understanding of its etiology.
 ...
PMID:A unique case of reducing body myopathy. 131 27

Cylindrical spirals (CS) have been reported in muscle biopsies from five individual cases, as well as in two belonging to one family where there was another affected member, clinically associated with cramps, pain, stiffness and/or weakness. Here we studied muscle biopsies of a 70-yr-old mother and her 52-yr-old son, the latter with an associated neuropathy, both with late clinical onset in whose family at least 10 other members, spanning five generations, were diversely affected by muscular weakness, gait disorders, motor impairment and/or scoliosis, featuring an autosomal dominant trait with variable expression. CS as the main pathological findings were observed by light microscopy mostly in type 2 fibres, consisting of subsarcolemmal or intermyofibrillar granular and/or rod-like clusters, bluish with haematoxylin, bright red with Gomori's modified trichrome, non- or lightly reactive with PAS, faintly coloured with NADH-TR, non-reactive with SDH or ATPase, strongly stained with non-specific esterase and myoadenylate deaminase. Ultrastructurally, CS appeared as concentrically wrapped lamellae 1-2 microns in diameter. On occasion CS merged into tubular vesicular structures strongly resembling tubular aggregates (TA). Dilation of terminal cisternae (TC) in their proximity supports an origin from the sarcoplasmic reticulum (SR). Variable gene expression possibly explains both the highly diverse clinical compromise and time of onset.
 ...
PMID:Autosomal dominant neuromuscular disease with cylindrical spirals. 182 55

Electromyographic studies have determined that muscle imbalance and asymmetry of stretch receptors in the paraspinal muscle of patients with idiopathic scoliosis may have a large role to play in the development and production of the deformity. This project consisted of a detailed histologic and histochemical analysis of the distribution of muscle spindles in paraspinal musculature of patients suffering from idiopathic scoliosis, using the reduced form of nicotinamide-adenine dinucleotide (NADH), adenosine triphosphatase (ATPase), and Tri-chrome stain techniques. Muscle biopsy samples were taken at operation for spinal instrumentation from each of 13 patients (mean age: 16.2 years; 3 males, 10 females) with all but one female exhibiting right thoracic curves. The samples were collected from two specific sites (superficial and deep) on both sides of the vertebral column at the level of the apex of the primary curve and two vertebral levels above and below the apex. From the results there appear to be few muscle spindles in the scoliotic muscle of this region. All of the patients from whom muscle samples were taken possessed at least one sample with a muscle spindle. However, each patient had very few samples which contained a minimum of one muscle spindle (mean: 20.3%; SD: 12.6). It is clear that further examination is necessary, particularly in the area of comparison with 'normal' standards when these standards become available.
 ...
PMID:Muscle spindles in the paraspinal musculature of patients with adolescent idiopathic scoliosis. 246 Sep 30

Multicore myopathy is a rare congenital myopathy. The multicores consist of numerous small areas of decreased oxidative enzyme activity. The long axis of the lesion is perpendicular or parallel to the long axis of the muscle fiber. These cores are usually smaller than central cores. For this reason they are also called minicores. Although the multicores represent a nonspecific change in that they can be observed in malignant hyperthermia, muscular dystrophy, inflammatory myopathy, etc. Muscular weakness dating from early infancy is combined large proportion of the muscle fibers. In about half of the reported cases the muscular weakness has not been progressive, while in the others a slow progression has occurred. This 9-year-old boy presented with congenital nonprogressive myopathy associated with thoracic scoliosis and bilateral equinovarus deformity. The serum creatine phosphokinase and lactic dehydrogenase levels were normal. Electromyography showed "myopathic" features. The biopsy revealed a marked size variation in myofibers, ranging from 10 microns to 100 microns. A few small angular fibers and slight endomyseal fibrosis were also noted. There was type I fiber predominance. NADH-TR reaction disclosed more well-defined cores with loss of intermyofibrillary mitochondrial activity. These cores were usually located with loss of intermyofibrillary mitochondrial activity. These cores were usually located in the peripheral portions of the myofibers and the core size measured 10-30 microns in diameter. Electron microscopic examination revealed circumscribed areas of disintegrated Z band material and disorganized sarcomeric units near the sarcolemma. A decrease in the number of mitochondria and glycogen particles was noted.
 ...
PMID:Multicore myopathy--a case report. 819 69

Morphological, biochemical, and histopathological alterations in the paraspinal skeletal muscle of patients with adolescent idiopathic scoliosis (AIS) have been extensively reported. We evaluated rotator muscle fibers from the apex vertebra of AIS patients through histological and immunohistochemical analysis. A population of 21 female AIS patients who underwent corrective surgery between 2010 and 2013 had biopsies taken from the paraspinal muscle in the convex and concave sides of the thoracic curve apical vertebra. Serial sections were stained following routine protocols for hematoxylin and eosin (HE), Sudan red, Gomori trichrome, NADH, ATPase, and cytochrome oxidase. We assessed muscular atrophy and hypertrophy, fatty proliferation, endomysial and perimysial fibrosis, the presence of hyaline fibers, mitochondrial proliferation, muscular necrosis, nuclear centralization, and inflammation. Two independent professionals evaluated the slices. The thoracic curves had an average Cobb angle of 68 degree. Comparative analysis of the concave and convex sides was performed with McNemar test at a significance level of 5%. Results showed significant differences in both endomysial and perimysial fibrosis and fatty involution between the two sides of the apex vertebra. Paraspinal muscles in the concave side of the scoliosis apex had significantly more fibrosis and fatty involution. However, both sides showed signs of myopathy, muscular atrophy due to necrosis, presence of hyaline fibers, and mitochondrial proliferation.
 ...
PMID:Histochemical analysis of paraspinal rotator muscles from patients with adolescent idiopathic scoliosis: a cross-sectional study. 2571 69