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

Up to six units of autologous blood can be provided for patients with heart surgery, hip joint replacement or scoliosis. This study was undertaken to evaluate hematological parameters in juvenile and elderly patients and the tolerance of 6 weeks preoperative autologous blood donations. We furthermore investigated the approximate "net blood gain" of the autologous procedure. For an optimal stimulation of erythropoiesis, under vigorous substitution of ferrous sulfate, the autologous donations should start as early as 4 to 6 weeks instead of 2-3 weeks prior to the scheduled surgery, even if only 3 units are required prospectively. The net Hb gain of the autologous procedure in 12-68 years old patients reached a mean of 141 g and 231 g Hb at 4 and 6 donations, respectively. This is equivalent to 2.5 and 4.1 homologous units of RBC (approximately 56g Hb each). Up to 6 units of autologous blood can easily be provided by employing "additive solutions" (PAGGS mannitol), avoiding tedious alternatives like "leap frog-techniques" or freezing of blood.
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PMID:[Hematologic parameters in repeated autologous blood donation]. 170 46

Proteoglycans of 18 lumbar discs obtained at surgery for lumbar disc lesion were studied biochemically and immunologically (using monoclonal antibody that recognizes core protein of annulus fibrosus proteoglycans) and compared with the results of similar studies on discs obtained at autopsy and Zielke's operation for scoliosis. Disc proteoglycans showed a decrease in extraction and hexuronic acid/protein weight ratio with age in both surgical and post-mortem specimens. Although the molecular weight of proteoglycan monomer seemed to show a slight decrease, that of chondroitin sulfate chain showed no change with age in surgical discs. The proportion of proteoglycan aggregate showed a decrease with age until 40 years old, it went up thereafter because of the loss of proteoglycan monomers. This biochemical degeneration paralleled discogramic degeneration and monoclonal antibody that recognized core protein showed a strong affinity with severely degenerated discs. Besides aging, lumbar instability seemed to exert a profound influence on the progression of degeneration.
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PMID:Biochemical and immunological study of lumbar disc degeneration. 383 21

This study examines biochemically the Type I collagen isolated from skin of chickens that develop idiopathic scoliosis. Previous studies indicate a defect in collagen exists in these chickens. Alpha 1 (I) and alpha 2 chains were separated by gel filtration and carboxymethyl cellulose column chromatography and were then subjected to the analytical techniques of sodium dodecyl sulfate gel electrophoresis, Staphylococcus aureus V8 protease digestion, cyanogen bromide peptide mapping and amino acid analyses. In all categories, the scoliotic alpha 1 (I) and alpha 2 chains were identical to alpha chains isolated from normal chickens. These data suggest that the altered properties of collagen solubility and connective tissue stress relaxation seen in these scoliotic chickens are not a manifestation of an altered primary structure of the alpha chains or post-translational modification affecting chromatographic elution profiles or electrophoretic migration patterns.
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PMID:Structural properties of Type I collagen isolated from chickens with scoliosis. 621 54

Duplicate lots of 150 Atlantic salmon (Salmo salar), average weight 0.5 g, were fed NRC diet H-440 base containing L-ascorbic acid (C1) or L-ascorbyl-2-sulfate (C2S); or L-ascorbyl-2-monophosphate (C2MP): at 0 or 100 mg C1; 50, 100, 300 mg C2S; or 50, 100 mg C2MP per kg dry diet in 12 degrees C freshwater tanks. After 12 weeks, negative controls (no vitamin C) exhibited reduced growth, scoliosis, lordosis, and petechial hemorrhages typical of fish scurvy. All other lots grew normally. Four 100-fish lots of scorbutic salmon, average weight 3.3 g, were placed on recovery diets of 0, 50, or 300 mg C2S, or 100 mg C2MP per kg dry diet. After 5 weeks, fish fed either level of C2S intake had recovered and resumed growth. Negative controls continued to develop acute scurvy. The 41 survivors in this no-vitamin-C group all had advanced scurvy, whereas all fish in both C2S-fed recovery groups appeared normal. Tissue assays for C vitamers disclosed normal levels of C1 and C2S in the recovery groups. All other test treatment lots containing C1, C2S, or C2MP had fish with normal appearance and no significant differences in growth response for the 17-week test period. C2S at 50 mg or more per kg diet as the sole vitamin C source promoted normal growth in young Atlantic salmon for more than 20-fold increase in weight.
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PMID:L-ascorbyl-2-sulfate alleviates Atlantic salmon scurvy. 807 52

An 11-year-old, 25-kg girl with congenital myelomeningocele was scheduled for posterior spinal fusion because of progressive scoliosis. After induction of general anesthesia and administration of a standard dose of intravenous esmolol hydrochloride, her cardiac rhythm progressed to asystole. Although given ephedrine, epinephrine, and atropine sulfate, the patient's normal heart rhythm could not be restored until calcium chloride was administered. A review of the medical literature indicates that the optimal treatment for acute beta-blocker toxicity is intravenous glucagon. Calcium administration should also be considered. Acute esmolol toxicity may be self-limiting because of its extremely short half-life.
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PMID:Cardiac arrest after esmolol administration: a review of acute beta-blocker toxicity. 893 32

We describe two White persons, a girl and her mother, presenting with Southeast Asian ovalocytosis. The child was evaluated for scoliosis. The red cell indices were normal but the cell counter triggered an alarm due to a high fraction of hyperdense red cells. Blood smears showed ovalocytes and ovalostomatocytes. Red cells exhibited a total lack of deformability upon osmotic gradient ektacytometry performed immediately after blood drawing. Analysis of nucleic acids and proteins ascertained a 27 nucleotide deletion, resulting in the loss of amino acids 400 to 408, and the presence in cis of the Memphis I polymorphism. The sulfate transport was diminished by more than 50%. There was no acidosis. In vitro invasion of ovalocytes by Plasmodium falciparum was decreased. The mother presented with the same hematological picture. On the whole, the condition was Southeast Asian ovalocytosis in all respects. The present kindred had ancestors who had inhabited islands in the Southwestern Indian Ocean.
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PMID:Southeast Asian ovalocytosis in White persons. 1008 85

The composition and the distribution of glycosaminoglycans (GAGs) present in normal human nasal cartilage (HNNC), were examined and compared with those in human scoliotic nasal cartilage (HSNC). In both tissues, hyaluronan (HA), keratan sulfate (KS) and the galactosaminoglycans (GalAGs)--chondroitin sulfate (CS) and dermatan sulfate (DS)--were identified. The overall GAG content in HSNC was approx. 30% higher than the HNNC. Particularly, a 114% increase in HA, and 46% and 86% in KS and DS, respectively, was recorded. CS was the main type of GAG in both tissues with no significant compositional difference. GalAG chains in HSNC exhibited an altered disaccharide composition which was associated with significant increases of non-sulfated and 6-sulfated disaccharides. DS, which was identified and quantitated for the first time in HNNC and HSNC, contained low amounts of iduronic acid (IdoA), 18% and 28% respectively. In contrast to other tissues, where IdoA residues are organized in long IdoA rich repeats, the IdoA residues of DS in human nasal cartilage seemed to be randomly distributed along the chain. DS chains in HSNC were of larger average molecular size than those from HNNC. These results clearly indicate the GAG content and pattern in both HNNC and HSNC and demonstrate that scoliosis of nasal septum cartilage is related to quantitative and structural modifications at the GAG level.
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PMID:Characterization of glycosaminoglycans from human normal and scoliotic nasal cartilage with particular reference to dermatan sulfate. 1168 93

Sponastrime dysplasia is a rare skeletal dysplasia characterized by severe short stature, scoliosis, a saddle nose, frontal bossing, and increased upper/lower segment ratio. Etiology of this condition is unknown. Radiological findings include a concavity in the posterior two thirds of lumbar vertebral bodies, platyspondyly, thoracolumbar scoliosis, marginal irregularity and striations of metaphyses, and delayed bone age. We report a patient with findings of sponastrime dysplasia and evaluation of urinary glycosaminoglycans with the presence of dermatan sulfate, heparan sulfate, chondroitin 4 sulfate, and chondroitin 6 sulfate. This suggests the etiology of this disorder may be abnormal cartilage metabolism.
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PMID:Sponastrime dysplasia with abnormal urinary glycosaminoglycans and growth hormone unresponsiveness. 1182 6

In our previous study we showed that the inheritance of pronounced forms of idiopathic scoliosis was described by an autosomal-dominant major gene model assuming incomplete sex- and age-dependent penetrance. In the present study a search for the major gene was carried out by means of testing candidate genes. The aggrecan gene with known polymorphism of the number of tandem repeats in exon G3 was considered to be one of these candidate genes. Various alleles of this gene provide attachment of different number of chondroitin sulfate chains to a proteoglycan core protein, thereby changing functional properties of cartilage. Using the TDT analysis of 33 unrelated families consisting of a proband and his parents, we examined the existence of associations between the aggrecan alleles and the disease. Among nine alleles identified, three alleles with tandem repeats numbers of 25, 26, and 27 prevailed. We did not reveal preferable transmission of any of these alleles to the proband (TDT-statistics for different alleles varied from 0 to 0.71). There was also no correlation between the number of tandem repeats and the disease severity. Thus, either the polymorphism of the number of tandem repeats is not the direct reason for development of idiopathic scoliosis in the families tested, or its effect is too low to be detected using the samples examined.
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PMID:[Analysis of polymorphism of the number of tandem repeats in the aggrecan gene exon G3 in the families with idiopathic scoliosis]. 1189 16

Glycosaminoglycans (GAG) are long, unbranched heteropolymers with repeating disaccharide units that make up the carbohydrate moiety of proteoglycans. Six distinct classes of GAGs are recognized. Their synthesis follows one of three biosynthetic pathways, depending on the type of oligosaccharide linker they contain. Chondroitin sulfate, dermatan sulfate, heparan sulfate, and heparin sulfate contain a common tetrasaccharide linker that is O-linked to specific serine residues in core proteins. Keratan sulfate can contain three different linkers, either N-linked to asparagine or O-linked to serine/threonine residues in core proteins. Finally, hyaluronic acid does not contain a linker and is not covalently attached to a core protein. Most inborn errors of GAG biosynthesis are reported in small numbers of patients. To date, in 20 diseases, convincing evidence for pathogenicity has been presented for mutations in a total of 16 genes encoding glycosyltransferases, sulfotransferases, epimerases or transporters. GAG synthesis defects should be suspected in patients with a combination of characteristic clinical features in more than one connective tissue compartment: bone and cartilage (short long bones with or without scoliosis), ligaments (joint laxity/dislocations), and subepithelial (skin, sclerae). Some produce distinct clinical syndromes. The commonest laboratory tests used for this group of diseases are analysis of GAGs, enzyme assays, and molecular testing. In principle, GAG analysis has potential as a general first-line diagnostic test for GAG biosynthesis disorders.
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PMID:Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests. 2668 2


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