The Experts below are selected from a list of 1308 Experts worldwide ranked by ideXlab platform
J J Perezvenegas - One of the best experts on this subject based on the ideXlab platform.
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genetic variation at the Glycosaminoglycan Metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis
Annals of the Rheumatic Diseases, 2019Co-Authors: Adria Aterido, Juan D Canete, Jesus Tornero, C Ferrandiz, Jose Pinto, Jordi Gratacos, Ruben Queiro, C Montilla, Juan Carlos Torrealonso, J J PerezvenegasAbstract:Objective Psoriatic arthritis (PsA) is a chronic inflammatory arthritis affecting up to 30% of patients with psoriasis (Ps). To date, most of the known risk loci for PsA are shared with Ps, and identifying disease-specific variation has proven very challenging. The objective of the present study was to identify genetic variation specific for PsA. Methods We performed a genome-wide association study in a cohort of 835 patients with PsA and 1558 controls from Spain. Genetic association was tested at the single marker level and at the pathway level. Meta-analysis was performed with a case–control cohort of 2847 individuals from North America. To confirm the specificity of the genetic associations with PsA, we tested the associated variation using a purely cutaneous psoriasis cohort (PsC, n=614) and a rheumatoid arthritis cohort (RA, n=1191). Using network and drug-repurposing analyses, we further investigated the potential of the PsA-specific associations to guide the development of new drugs in PsA. Results We identified a new PsA risk single-nucleotide polymorphism at B3GNT2 locus (p=1.10e-08). At the pathway level, we found 14 genetic pathways significantly associated with PsA (p FDR Conclusion These findings provide insights into the biological mechanisms that are specific for PsA and could contribute to develop more effective therapies.
Adria Aterido - One of the best experts on this subject based on the ideXlab platform.
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genetic variation at the Glycosaminoglycan Metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis
Annals of the Rheumatic Diseases, 2019Co-Authors: Adria Aterido, Juan D Canete, Jesus Tornero, C Ferrandiz, Jose Pinto, Jordi Gratacos, Ruben Queiro, C Montilla, Juan Carlos Torrealonso, J J PerezvenegasAbstract:Objective Psoriatic arthritis (PsA) is a chronic inflammatory arthritis affecting up to 30% of patients with psoriasis (Ps). To date, most of the known risk loci for PsA are shared with Ps, and identifying disease-specific variation has proven very challenging. The objective of the present study was to identify genetic variation specific for PsA. Methods We performed a genome-wide association study in a cohort of 835 patients with PsA and 1558 controls from Spain. Genetic association was tested at the single marker level and at the pathway level. Meta-analysis was performed with a case–control cohort of 2847 individuals from North America. To confirm the specificity of the genetic associations with PsA, we tested the associated variation using a purely cutaneous psoriasis cohort (PsC, n=614) and a rheumatoid arthritis cohort (RA, n=1191). Using network and drug-repurposing analyses, we further investigated the potential of the PsA-specific associations to guide the development of new drugs in PsA. Results We identified a new PsA risk single-nucleotide polymorphism at B3GNT2 locus (p=1.10e-08). At the pathway level, we found 14 genetic pathways significantly associated with PsA (p FDR Conclusion These findings provide insights into the biological mechanisms that are specific for PsA and could contribute to develop more effective therapies.
I. Eronen - One of the best experts on this subject based on the ideXlab platform.
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the in vitro effect of six nsaids on the Glycosaminoglycan Metabolism of rabbit chondrocytes
Clinical and Experimental Rheumatology, 1991Co-Authors: A Bjelle, I. EronenAbstract:The effects of NSAIDs on Glycosaminoglycan (GAG) Metabolism in vitro were studied in isolated chondrocytes from the weight-bearing cartilage of the hindleg knees of five mature rabbits separately. After confluence, secondary cultures were incubated for three days with six different NSAIDs at various concentrations: diclofenac sodium and indomethacin (0.4-50 micrograms/ml), piroxicam, naproxen and ibuprofen (4-100 micrograms/ml) and salicylic acid (8-1000 micrograms/ml). All NSAIDs significantly inhibited total 35S uptake in GAGs both in matrix and in medium in high concentrations. At low concentrations none of the NSAIDs significantly influenced the chondrocyte Metabolism of GAG. The NSAID influence on keratan sulphate Metabolism was variable.
T. F. Ashavaid - One of the best experts on this subject based on the ideXlab platform.
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Urinary Glycosaminoglycan Estimation as a Routine Clinical Service
Indian Journal of Clinical Biochemistry, 2015Co-Authors: M. B. Dave, P. K. Chawla, A. J. Dherai, T. F. AshavaidAbstract:Mucopolysaccharidoses, a group of inherited disorders are associated with defects in Glycosaminoglycan Metabolism. Thus, assessment of urinary Glycosaminoglycan is used as a screening test for mucopolysaccharidoses. The detection methods range from qualitative spot tests to quantification using metachromatic dyes. In our laboratory we optimized a spectrophotometric quantitative method using a metachromatic dye, dimethylmethylene blue. Heparan sulfate was used for quantification. The Glycosaminoglycan–dye complex showed a marked shift in color with increase in concentration. The color complex was quantified at 520 nm. The method was linear from 10–89 mg/L. An age matched normal range was obtained in 177 healthy individuals, grouped in 8 different age groups from neonates to adults. Urinary Glycosaminoglycan concentration varied distinctly amongst the study population wherein the lowest range in healthy neonates was more than 3 times the upper limit of healthy adults. Urine samples from 10 patients with mucopolysaccharidoses were also included in the study for clinical validation. The method qualified both analytical and clinical validation and was found to be simple, robust and ideal to be offered as a screening test for mucopplysaccharidoses in a routine clinical chemistry laboratory.
Gottfried O H Naumann - One of the best experts on this subject based on the ideXlab platform.
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corneal stromal calcification after topical steroid phosphate therapy
Archives of Ophthalmology, 1999Co-Authors: Ursula Schlotzerschrehardt, Zbigniew Zagorski, Leonard M Holbach, Carmen Hofmannrummelt, Gottfried O H NaumannAbstract:Secondary corneal calcification involving the full thickness of the stroma is a rare potential complication of severe dry eye conditions, recurrent corneal ulcerations, chronic ocular inflammation, or multiple surgical procedures. We describe on a patient with unusual, hitherto unreported calcareous degeneration of the corneal stroma after topical steroid-phosphate therapy for chronic keratoconjunctivitis after Stevens-Johnson syndrome. The patient's serum levels of calcium and phosphorus were normal. Histopathologic and electron microscopic examination of the corneal button revealed mainly intracellularly located crystalline calcium deposits throughout all layers of the corneal stroma but sparing the Bowman layer. Energy-dispersive x-ray analysis confirmed the presence of calcium phosphate. The calcium deposits were closely associated with intracellular and pericellular accumulations of Glycosaminoglycans. Our findings indicate that corneal stromal calcification may develop after topical steroid-phosphate medication, and suggest a possible role of alterations in the Glycosaminoglycan Metabolism of stromal keratocytes in the calcification process.