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)

Structural study of human scoliosis muscles showed significant dystrophic and degenerative changes: desintegration of fibrillar structure and striation; the Zencker necrosis; the replacement of muscular tissue by connective and adipose tissues. The electron microscopic observation revealed disordering of filamental array of the sarcomere (I- and A-discs), the broadening of Z-disc material, the appearance of N-stripes in I-band. At the same time deviations from the norm were observed in contractile proteins: actin and myosin. ATPase activity of myosin decreased by 25--30%; the flow of birefringence of myosin and especially of actin also decreased. Actin from the scoliosis muscles partially or completely lost the ability for polymerization in 0.1 M KC1.
 ...
PMID:[Complex biochemical and structural study of skeletal muscles in scoliosis]. 15 74

Recent studies have reported abnormal platelet morphology and function in patients with adolescent idiopathic scoliosis. These abnormalities include increased platelet size and dense body numbers, abnormal aggregation, thromboxane A2 synthesis, serotonin release to adenosine diphosphate and epinephrine stimulus, and decreased myosin-adenosine-triphosphatase-specific activity. It was postulated that a membrane-specific defect in calcium transport may be partially responsible for the abnormalities found. In response to a suggestion in the literature that platelet screening could be clinically useful in scoliosis evaluation as well as in basic research of its pathophysiology, a study was performed to evaluate platelet morphology, biochemistry, and function in patients with adolescent idiopathic scoliosis. Platelets from nine volunteers with adolescent idiopathic scoliosis were compared with cells from a control group of nine patients. No significant differences in measured platelet parameters were noted between adolescent idiopathic scoliosis patients and control groups. Platelets from both groups demonstrated normal aggregation and release patterns with all agents except for a mild decreased aggregation and secretion response to epinephrine. No significant differences were noted in serotonin or adenine nucleotide levels. No significant ultrastructural differences were noted. Earlier findings of an abnormal aggregation and secretion response to adenosine diphosphate, increased numbers of dense bodies, or increased intracellular calcium could not be confirmed. On the contrary, we found normal, if not slightly decreased, numbers of dense bodies per platelet and calcium levels that were not different from controls.
 ...
PMID:Platelet function in adolescent idiopathic scoliosis. 155 84

Because platelets and muscle cells share the same contractile proteins--actin and myosin--platelets may serve as a model for muscle research. To study the functional abnormalities and ultrastructural changes of platelets and to determine whether or not abnormalities in muscle contractile proteins and collagen play an important role in the pathogenesis of idiopathic scoliosis, the bleeding time, the platelet aggregation test, and the titers of platelet plasminogen activator inhibitors were measured and the electron microscopic findings were examined in 52 idiopathic scoliosis patients aged 7 to 28 years and in 49 normal individuals aged 8 to 38 years as a control group. We found no statistically significant difference between the two groups in the bleeding time, the platelet aggregation test, and the titers of platelet plasminogen activator inhibitors. In the electron microscopic findings, no specific abnormalities were found in platelets of idiopathic scoliosis patients. We concluded that idiopathic scoliotic patients have normal morphology and function of platelets, and there is no important role of contractile proteins in the pathogenesis of idiopathic scoliosis. In addition, since the bleeding time was in the normal range, no evidence of subendothelial collagen dysfunction was found in the idiopathic scoliosis patients.
 ...
PMID:A study on platelet function in idiopathic scoliosis. 194 44

Histochemical examinations of the paravertebral muscles and physiological studies were conducted on 17 patients affected with idiopathic scoliosis. Muscle specimens were obtained by needle biopsy. The specimens were removed from both sides of the apical vertebra of the curve and from vastus lateralis. Staining was as follows: 1. ATPase myosin; 2. capillary; 3. Periodic Acid-Schiff (PAS) for glycogen; 4. alpha-glycerophosphate dehydrogenase; 5. DPNH diaphorase. The physiological studies comprised maximum oxygen consumption, anaerobic threshold, isometric force of the flexor muscles of the elbow and femoral quadriceps muscle, and the flexibility of the lumbar spine, shoulder and hip joints. The histochemical tests of the paravertebral muscles showed muscles with a prevalently aerobic metabolic potential, with no evidence of myopathic changes. The physiological studies showed that at the stage at which these subjects were examined, scoliosis is an organic, not a systemic disease.
 ...
PMID:Histochemical and physiological studies in idiopathic scoliosis. 211 83

Platelets of patients with idiopathic scoliosis (IS) have been shown to have decreased capacity to aggregate and secrete in response to certain agonists. Similarities between the contractile protein system of platelets and muscle have made the platelets a popular model for muscle disease. We attempted to characterize the function and structure of myosin in platelets of IS patients. Blood was obtained from seven IS patients and seven matched non-scoliotic healthy controls. The mean Cobb angle measurement of the IS patients was 35.4 degrees with a mean Risser sign of 2.2. Washed platelets were isolated from the blood, and the contractile proteins from the membrane and the cytosol compartments were isolated and analyzed by two-dimensional peptide mapping. As previously reported (J Biol Chem 258:9290, 1983), peptide maps of normal platelets revealed that the heavy chain of myosin located in the platelet membrane lacks one major spot relative to the cytoplasmic myosin. In IS patients the cytoplasmic myosin lacks the same peptide that is missing in the membrane myosin of normal individuals. In addition, the ATPase specific activity of the cytoplasmic myosin from IS platelets was significantly lower compared with the activity of the cytoplasmic myosin from normal platelets. These results suggest the presence of a fundamental abnormality of IS platelet contractile proteins.
 ...
PMID:Altered structural and functional properties of myosins, from platelets of idiopathic scoliosis patients. 252 98

Measurements of total proteins, myosin, actin, actin-binding protein, and ATPase activity of myosin were examined in platelets from patients with idiopathic scoliosis and from healthy individuals. Abnormalities in the distribution of total and contractile proteins were revealed after fractionations. The insoluble fraction of the patients' platelets had a higher, and the cytosol fraction had a lower than normal protein content. Similar differences were observed in the specific activity of myosin ATPase. These findings show that in patients with idiopathic scoliosis platelet defects exist and that their study might be useful in research of the disease.
 ...
PMID:Contractile protein studies on platelets from patients with idiopathic scoliosis. 621

The fundamental similarity between platelets and muscle, suggested the possiblity of a shared defect in idiopathic scoliosis, a genetic disease with lateral deformity of the spine in which there is an elevation of calicum concentration in muscles and platelets. A variety of platelet tests revealed the following abnormalities: (1) Electron microscopic x-ray analysis and x-ray fluorescence spectrometry showed a 2- to 3-fold increase in calcium and phosphorus in whole cells and in individual dense bodies. (2) Electron microscopy morphometry revealed an increase in electron-opaque bodies in air-dried cells; granules and microtubules were unchanged. There were more large cells and membranous complexes. (3) Aggregations with epinephrine and ADP were depressed in some patients. (4) Proteins (total and contractile) and myosin. ATPase activity in centrifuged fractions of platelets were decreased in the cytosol and increased in the fraction containing membranes and granules. The correlated findings suggest that platelets in idiopathic scoliosis have a mild calcium transport defect related to membrane and/or contractile protein metabolism. This investigation also shows that platelets may be used to advantage in diagnosis and research of muscle diseases.
 ...
PMID:Platelet pathology in patients with idiopathic scoliosis: Ultrastructural morphometry, agrregations, x-ray spectrometry, and biochemical analysis. 689 14

Muscle biopsies from patients with idiopathic scoliosis were analyzed by two-dimensional gel electrophoresis. Both isoelectric focusing and nonequilibrium pH-gradient electrophoresis were used in the first dimension of the separations, to obtain maximum information from each biopsy specimen. The identification of the various contractile proteins and their isoforms was considered, based in part by analogy with studies on animal models. The myosin light chains and the TN-C subunit of troponin were the most useful qualitative markers indicative of the muscle phenotype. Convex and concave paraspinal muscles were analyzed from 13 patients with idiopathic scoliosis. Eight of the patients had light chain and TN-C subunits characteristic of both fast and slow contracting muscle. However, five patients had mixtures of fast and slow proteins only in the concave muscle, the convex muscle being composed exclusively of slow light chains and slow TN-C. Possible mechanisms leading to such a situation and the implications of these results concerning the muscle pathology are discussed.
 ...
PMID:Two-dimensional electrophoretic analysis of muscle contractile proteins in patients with idiopathic scoliosis. 707 63

There is no generally accepted scientific theory for the etiology of idiopathic scoliosis. As part of its mission to widen understanding of scoliosis etiology, the International Federated Body on Scoliosis Etiology (IBSE) introduced the electronic focus group (EFG) as a means of increasing debate of extant knowledge on important topics. This has been designated as an on-line Delphi discussion. The text for this EFG was written by Professor Thomas G Lowe MD and drawn from research carried out by himself and his co-workers on platelet calmodulin levels in patients with adolescent idiopathic scoliosis. To explain the relationship of platelet calmodulin levels to scoliosis curve changes in AIS brought about spontaneously, by brace treatment, or surgery Dr Lowe attributes the platelet calmodulin changes to paraspinous muscle activity and suggests that the calmodulin acts as a systemic mediator of tissues having a contractile system (actin and myosin). Controversy includes: 1) the lack of normal data and the large variability in baseline levels of platelet calmodulin, necessitating the use of the AIS subjects as their own controls; 2) calmodulin is not usually used as a marker of platelet activation; 3) whether the platelet calmodulin changes which appear to reflect an abnormality of a portion of the spine are related to local and/or regional changes in muscles, nervous system, or immature vertebrae. What is not controversial is the need for more research on platelets and the immature deforming skeleton in relation to etiology and prognosis.
 ...
PMID:Platelet calmodulin levels in adolescent idiopathic scoliosis (AIS): can they predict curve progression and severity? Summary of an electronic focus group debate of the IBSE. 1471 44

Quadriceps muscle weakness is an important component of chronic obstructive pulmonary disease (COPD). We hypothesised that quadriceps weakness would also be a feature of restrictive lung disease due to scoliosis. We studied 10 patients with severe scoliosis (median (interquartile range (IQR)) forced expiratory volume in 1 s (FEV(1))() 35.3 (11)% predicted), 10 patients with severe COPD (FEV(1) 26.5 (9.0)% pred) and 10 healthy age-matched adults. We measured quadriceps strength, exercise capacity and analysed quadriceps muscle biopsies for myosin heavy-chain (MyHC) isoform expression and the presence of oxidative stress. Both groups exhibited quadriceps weakness with median (IQR) maximal voluntary contraction force being 46.0 (17.0) kg, 21.5 (21.0) kg and 31.5 (11.0) kg, respectively (p = 0.02 and 0.04, respectively, for each patient group against controls). Oxidative stress was significantly greater in the quadriceps of both restrictive and COPD patients. The scoliosis patients exhibited a decrease in the proportion of MyHC type I compared with controls; median (IQR) 35.3 (18.5)% compared with 47.7 (9.3)%, p = 0.028. The scoliosis patients also showed an increase in MyHC IIx (26.3 (15.5)% compared with 11.3 (13.0)%, p = 0.01. Quadriceps weakness is a feature of severe scoliosis; the similarities between patients with scoliosis and patients with COPD suggest a common aetiology to quadriceps weakness in both conditions.
 ...
PMID:Quadriceps muscle strength in scoliosis. 2043 81


1 2 Next >>