Search results for "DASE"
showing 10 items of 1891 documents
Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data
2009
Summary Background We analysed 5-year treatment with agalsidase alfa enzyme replacement therapy in patients with Fabry's disease who were enrolled in the Fabry Outcome Survey observational database (FOS). Methods Baseline and 5-year data were available for up to 181 adults (126 men) in FOS. Serial data for cardiac mass and function, renal function, pain, and quality of life were assessed. Safety and sensitivity analyses were done in patients with baseline and at least one relevant follow-up measurement during the 5 years (n=555 and n=475, respectively). Findings In patients with baseline cardiac hypertrophy, treatment resulted in a sustained reduction in left ventricular mass (LVM) index af…
Effects of acute exercise and xanthine oxidase inhibition on novel cardiovascular biomarkers.
2013
Several sports have been associated with a postexercise increase of cardiac, liver, and skeletal muscle biomarkers of injury. Exhaustive or acute physical exercise causes an increased generation of reactive oxygen species, resulting in cellular injury. Thus, exercise and training may trigger pathophysiological changes in serum concentrations of a variety of biomarkers. In this study, we aimed to evaluate the variation of novel biomarkers of stress and cardiovascular disease such as copeptin, midregional part of proadrenomedullin (MR-proADM), growth differentiation factor 15 (GDF15), soluble vascular endothelial growth factor receptor, and placental growth factor along with uric acid before …
Effects of acute exercise and allopurinol administration on soluble urokinase plasminogen activator receptor (suPAR).
2013
Background Although physical exercise acutely increases the most widely used inflammatory biomarkers, there is no information on its effect on soluble urokinase plasminogen activating receptor (suPAR), a circulating biomarker increasingly used for the assessment of systemic inflammation. Methods suPAR was assessed with the quantitative suPARnostic Standard ELISA Assay (Virogates, Birkerod, Denmark) in 12 professional football players before and after a football match. The athletes were divided into two experimental groups. An oral dose of 300 mg of allopurinol was administered to one group of six participants four hours before a match; the other six participants received placebo. Results Se…
Surgical Treatment of Extravasation Injuries
2005
The authors present their experience of treating anti-cancer drug extravasation by means of a composite surgical technique that consists of infiltration with physiological solution and hyaluronidase and subsequent manual aspiration of solutes alternated with profuse irrigation of the infiltrated area. In the immediate post-op we carry out a medical therapy that consists of calciparine and topic antibiotic and/or steroid creams. Since the year 2000 this technique has been used on 25 patients. We have had neither complications nor scars. Copyright 2005 Wiley-Liss, Inc Surgical treatment of extravasation injuries. Napoli P, Corradino B, Badalamenti G, Tripoli M, Vieni S, Furfaro MF, Cordova A,…
Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis
2007
Summary Objectives Iodide organification defect (IOD) is characterized by a reduced ability of the thyroid gland to retain iodide and results in hypothyroidism. Mutations in the thyroid peroxidase (TPO) gene are a frequent cause of IOD. While TPO mutations have been identified in various populations, none have been reported in Israeli patients with IOD. The objectives of this study were to characterize the molecular basis of IOD in an Israeli Arab-Muslim population and to analyse the clinical, neurological and imaging data of patients with TPO mutations followed for up to 29 years. Patients Twenty-two patients from six core families with congenital hypothyroidism (CH) and IOD living in th…
The serum protease network—one key to understand complex regional pain syndrome pathophysiology
2019
Complex regional pain syndrome (CRPS) develops after fracture. The acute CRPS phenotype resembles exaggerated inflammation, which is explained by local and systemic activation of a proinflammatory network including peptides and cytokines. Epidemiologic data suggest that inactivation of the peptidase angiotensin-converting enzyme in patients treated for hypertension increases the odds to develop CRPS. This hint leads us to investigate the serum protease network activity in patients with CRPS vs respective controls. For this purpose, we developed a dabsyl-bradykinin (DBK)-based assay and used it to investigate patients with CRPS, as well as healthy and pain (painful diabetic neuropathy [dPNP]…
No primary association between LMP2 polymorphisms and extraspinal manifestations in spondyloarthropathies
1997
OBJECTIVE—To investigate the potential role of the HLA-linked LMP2 (low molecular weight protein) gene polymorphisms in conjunction with DR4 and DR7 on extraspinal disease manifestations in HLA-B27 positive patients with spondyloarthropathy. METHODS—172 patients with spondyloarthropathy, 46 healthy, HLA-B27 positive blood donors, and 99 unrelated controls were typed for HLA-class I and II antigens. LMP2 alleles were determined by polymerase chain reaction and subsequent restriction enzyme digestion. RESULTS—There were statistically non-significant increases of DR4 and DR7 in spondyloarthropathy subjects. However these differences did not relate to specific extraspinal manifestations. There …
A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects
1985
A 20-month-old girl showed typical clinical signs of Farber disease: hoarseness since birth, and periarticular subcutaneous painful nodules. Complete deficiency of acid ceramidase activity was found in cultured skin fibroblasts. An electron microscopic examination of a dermal nodule disclosed pathognomonic tubular inclusions in histiocytes. In epidermal cells zebra-body-like and needle-like lysosomal inclusions were found. Their ultrastructure is different from that of the intrahistiocytic lysosomal inclusions. Probably three clinical types of Farber disease may be distinguished according to the symptomatology and the course of the disease: a severe type, an intermediate type and a relative…
Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase
1987
A 42-year-old woman had a 10-year history of external ophthalmoplegia, malabsorption resulting in chronic malnutrition, muscle atrophy and polyneuropathy. Computer tomography revealed hypodensity of her cerebral white matter. A metabolic disturbance consisted of lactic acidosis after moderate glucose loads with increased excretion of hydroxybutyric and fumaric acids. Post-mortem studies revealed gastrointestinal scleroderma as the morphological manifestation of her malabsorption syndrome, ocular and skeletal myopathy with ragged red fibers, peripheral neuropathy, vascular abnormalities of meningeal and peripheral nerve vessels. Biochemical examination of the liver and muscle tissues reveale…
Characterization of subcolumnar reserve cells and other epithelia of human uterine cervix. Demonstration of diverse cytokeratin polypeptides in reser…
1987
We have analyzed the expression of cytokeratin polypeptides in subcolumnar reserve cells of the human uterine endocervical mucosa and the other epithelial cells using immunoperoxidase and immunofluorescence microscopy as well as by applying two-dimensional gel electrophoresis to microdissected cytoskeletal preparations. Endocervical columnar cells were uniformly positive for antibodies directed against the simple epithelium-type cytokeratins nos. 7, 8, 18, and 19, while a variable proportion of these cells was stained by an antibody against cytokeratin no. 4. Reserve cells were not only positive for cytokeratins nos. 8 (weakly and variably) and 19 but were also decorated by antibody KA 1, w…