Search results for "XOS"
showing 10 items of 414 documents
Kinetics and Topology of DNA Associated with Circulating Extracellular Vesicles Released during Exercise.
2021
AbstractAlthough it is widely accepted that cancer derived extracellular vesicles (EVs) carry DNA cargo, the association of cell-free circulating DNA (cfDNA) and EVs in plasma of healthy humans remains elusive. Using a physiological exercise model, where EVs and cfDNA are synchronously released, we aimed to characterize the kinetics and localization of DNA associated with EVs. EVs were separated from human plasma using size exclusion chromatography or immuno-affinity capture for CD9+, CD63+, and CD81+ EVs. DNA was quantified with an ultra-sensitive qPCR assay targeting repetitive LINE elements, with or without DNase digestion. This model shows that a minute part of circulating cell-free DNA…
Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in fo…
1997
Tay-Sachs disease is a genetically determined neurodegenerative disorder, resulting from mutations of the hexosaminidase (Hex) A gene coding for the alpha-subunit of beta-D-N-acetyl-hexosaminidase. Clinically, there is severe encephalomyelopathy leading to death within the first few years of life. Hex A activity is usually absent in tissue and body fluids of these patients. Juvenile and adult Hex A deficiencies are less severe but rare variants with some residual Hex A activity. All these variants are most prevalent among Ashkenazi Jews. We describe a non-Jewish family in which four adult brothers and sisters had markedly reduced Hex A activities and onset of symptoms in the second decade o…
Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1.
2009
Abstract Background/aim To present clinical and genetic characteristics of all Romanian patients with Gaucher disease type 1, in whom specific diagnosis has been confirmed by enzymatic and molecular methods and to analyze their outcome with and without enzymatic replacement therapy (ERT). Patients, methods There are fifty patients (F/M — 1.63/1) with Gaucher disease type 1. Clinical status, haemoglobin, thrombocytes, hepatic/splenic volume, bone mineral density and severity score were assessed at baseline and every six months thereafter. Thirty-nine patients (78%) received imiglucerase (44.4 ± 13.6 U/kg/2 weeks) for 3.1 +/− 1.4 years. Results Based on general prevalence data, our group repr…
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.
2013
Globotriaosylceramide concentrations were assessed as potential predictors of change from baseline after 12 months by estimated glomerular filtration rate and left-ventricular mass index using pooled data from three randomized, placebo-controlled agalsidase alfa trials and open-label extensions of patients with Fabry disease.Males (aged 18 years or older) with Fabry disease received agalsidase alfa (0.2 mg/kg every other week for 12 months). A backward-elimination approach evaluated potential predictors (baseline estimated glomerular filtration rate and left-ventricular mass index; age at first dose; baseline and change from baseline at 12 months of globotriaosylceramide (urine, plasma); ur…
Enhancement of nortriptyline penetration through human epidermis: influence of chemical enhancers and iontophoresis.
2008
Abstract Different known percutaneous chemical enhancers and iontophoresis have been tested in-vitro to study their ability to increase transdermal absorption of nortriptyline hydrochloride (20 mg mL−1). The chemicals 1-dodecanol, Span 20, Azone, (R)-(+)-limonene or isopropyl myristate were used as an overnight pretreatment at 5% (w/w) in ethanol. Furthermore, isopropyl myristate (20%, w/w) and propylene glycol (15%, w/w) were tested in the same vehicle. Iontophoresis was applied directly to the nortriptyline hydrochloride donor solution for three different concentrations (20, 2 and 0.5 mgmL−1). The chemical enhancers slightly increased the nortriptyline transdermal flux but iontophoresis w…
A multicentric randomized study comparing two techniques of magnification assisted loop excision of high-grade cervical intraepithelial neoplasia: vi…
2013
Purpose: To compare loop excisions of cervical intraepithelial neoplasia grade 2 or worse (CIN 2+) under video exoscopy, or colposcopic guidance, with respect to safety and effectiveness. Methods: Prospective multicentric randomized trial of 300 patients, undergoing loop excision for CIN 2+ either under video exoscopy (group A) or colposcope (group B) guidance. Intra- and post-operative complications, resection margins, and removed cervical volume in both groups were evaluated. Results: 19.3% of patients in video exoscopy group and 15.5% in colposcopy group (p = 0.67) had transformation zone (TZ) 3. 45/151 (29.8%) of group A patients and 48/149 (32.2%) of group B patients underwent top-hat …
Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study.
2003
Summary: Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency of α-galactosidase A. Affected patients experience debilitating neuropathic pain and have premature mortality due to renal failure, cardiovascular disease or cerebrovascular complications. The disease may be X-linked dominant, since most females heterozygous for Fabry disease are affected clinically. We evaluated the safety, efficacy and pharmacokinetics of agalsidase alfa (Replagal) administered intravenously to female patients with Fabry disease in an open-label, single-centre study. Fifteen severely affected patients received agalsidase alfa at 0.2 mg/kg every other week for up to 55 weeks. Ag…
Clinical relevance of objectifying colposcopy.
2014
Purpose: To evaluate the clinical value of four objective colposcopic criteria inner border, ridge sign, cuffed crypt openings and rag sign to diagnose cervical intraepithelial neoplasia grade 2 or worse (CIN 2+), using video exoscopy and to compare it to subjective graduating signs. Methods: Retrospective evaluation of video recordings of 444 patients, referred for diagnostic colposcopy, who underwent cervical biopsies, and if indicated loop excisions. Most severe histological diagnosis was recorded. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and likelihood ratios (LR) with 95 % confidence interval, for CIN 2+ were calculated. Results: Singl…
Variación de compuestos bioactivos y con capacidad antioxidante en una bebida de zumo y leche al aplicar tecnologías no térmicas de conservación
2009
En los últimos años han aparecido en el mercado nuevas bebidas, combinación de zumos de fruta y leche con una buena aceptación por parte de los consumidores. Tradicionalmente, los alimentos líquidos como zumos de fruta y/o vegetales, así como la leche han sido conservados mediante técnicas por calor como la pasterización o esterilización. Sin embargo, los procesos térmicos de conservación dañan tanto a microorganismos y enzimas, como a nutrientes y otros compuestos químicos responsables de la calidad nutricional y organoléptica de los alimentos. En la última década, investigadores y tecnólogos, demandado por la industria alimentaria, han estudiado la aplicación de tecnologías de conservació…