Search results for "DAS"

Development and application to clinical practice of a validated HPLC method for the analysis of β-glucocerebrosidase in Gaucher disease.

2014

The main objective of our study is to develop a simple, fast and reliable method for measuring ß-glucocerebrosidase activity in Gaucher patients leukocytes in clinical practice. This measurement may be a useful marker to drive dose selection and early clinical decision making of enzyme replacement therapy. We measure the enzyme activity by high-performance liquid chromatography with ultraviolet detection and 4-nitrophenyl-ß-d-glucopyranoside as substrate. A cohort of eight Gaucher patients treated with enzyme replacement therapy and ten healthy controls were tested; median enzyme activity values was 20.57mU/ml (interquartile range 19.92-21.53mU/ml) in patients and mean was 24.73mU/ml (24.12…

Oxidative stress and antioxidant enzyme values in lymphomonocytes after an oral unsaturated fat load test in familial hypercholesterolemic subjects

2012

Oxidative stress (OS) has been observed in conditions affecting the cardiovascular system. Familial hypercholesterolemia (FH) is associated with an increased risk of premature coronary heart disease. In the postprandial state, circulating lipids and lipoproteins can modulate OS status. Our aim was to study the response of lymphomonocyte OS status and reactive oxygen species by-products after an oral unsaturated fat load test (OFLT) in those with FH and to compare this response with that obtained in normolipidemic, normoglycemic subjects. We studied 12 patients with FH and 20 healthy controls. In both groups, lymphomonocyte, oxidized/reduced glutathione ratio, and malondialdehyde were determ…

Inhibition of neutral endopeptidase (NEP) facilitates neurogenic inflammation

2005

Neutral endopeptidase (NEP) and angiotensin-converting enzyme (ACE) are involved in neuropeptide degradation and may modulate neurogenic inflammation. We therefore explored the effect of specific blockers of NEP and ACE on the intensity of neurogenic inflammation. We investigated eight subjects on three occasions. Two pairs of microdialysis fibers equipped with intraluminal wires were inserted intracutaneously into the volar forearms and electrical stimuli were delivered via the intraluminal electrodes. The microdialysis fibers were perfused either with normal saline, phosphoramidon (NEP inhibitor), or captopril (ACE inhibitor). CGRP release was assessed in the microdialysis eluate via a sp…

Effects of moclobemide on sexual performance and nocturnal erections in psychogenic erectile dysfunction

2001

Rationale and objectives: We tested the hypothesis that the selective reversible MAO-A inhibitor moclobemide has a specific therapeutic effect on erectile dysfunction independent of its antidepressive properties. Methods: In a double-blind placebo controlled study, 12 male outpatients suffering from psychogenic erectile dysfunction without any other psychiatric disorder were investigated. Based on comprehensive diagnosis before the beginning of the study, organic factors relevant for sexual function were excluded. The treatment period was 8 weeks. Half the patients received 450 mg moclobemide during the first week, and 600 mg afterwards; the others received placebo. Apart from assessment of…

A comparison study of moclobemide and doxepin in major depression with special reference to effects on sexual dysfunction

1993

A double-blind parallel-group comparison study of moclobemide versus doxepin in 237 patients with major depression confirmed that moclobemide was equal in efficacy and better tolerated than doxepin. It was less sedating and caused fewer anticholinergic adverse events as measured by the UKU side-effect rating scale. Unexpectedly, moclobemide therapy more often than doxepin resulted in increased sexual desire. An exploratory analysis of UKU-measured symptoms of impaired sexual function prior to commencement of the study revealed that moclobemide more often than doxepin led to an improvement of reduced libido and impaired erection, ejaculation and orgasm. This finding is compatible with the as…

A Novel Loss of Function Mutation of PCSK9 Gene in White Subjects With Low-Plasma Low-Density Lipoprotein Cholesterol

2007

Objectives— The PCSK9 gene, encoding a pro-protein convertase involved in posttranslational degradation of low-density lipoprotein receptor, has emerged as a key regulator of plasma low-density lipoprotein cholesterol. In African-Americans two nonsense mutations resulting in loss of function of PCSK9 are associated with a 30% to 40% reduction of plasma low-density lipoprotein cholesterol. The aim of this study was to assess whether loss of function mutations of PCSK9 were a cause of familial hypobetalipoproteinemia and a determinant of low-plasma low-density lipoprotein cholesterol in whites. Methods and Results— We sequenced PCSK9 gene in 18 familial hypobetalipoproteinemia subjects and i…

Screening for Fabry disease in male patients with arrhythmia requiring a pacemaker or an implantable cardioverter-defibrillator

2021

Lysosomal aspartic and cysteine proteinases serum levels in patients with pancreatic cancer or pancreatitis

1997

Lysosomal cathepsins D (CD), B (CB), and L (CL) serum levels were determined by immunoassays in patients with chronic (CHP) or acute (AP) pancreatitis and in patients with ductal pancreatic carcinoma (DPC) and correlated with some biological and clinical parameters of this tumor. CB serum concentrations significantly higher than those measured in healthy subjects (NS) were observed in CHP, AP, and DPC patients (p < 0.01). However, no significant difference was noted among these groups. Increased CL serum levels were evident only in cancer patients compared to NS, AP, or CHP groups (p < 0.05), while no difference was observed among these groups. Elevated CD serum values were observed i…

Depression and social phobia in essential tremor and Parkinson's disease

2017

Background Essential tremor (ET) and Parkinson's disease (PD) are the two most common movement disorders, and tremor is the most visible symptom. Comparative study on ET and PD clinical neuropsychiatric symptoms was performed to assess the impact of emotional state on tremor. Objectives To investigate the most common psychiatric symptoms (depression, anxiety and social phobia) and their correlations with motor symptoms, especially tremor, in ET and PD patients. Materials and Methods This comparative cross-sectional study consisted of neurological examinations, five self-assessment questionnaires (Depression Anxiety Stress Scale [DASS], Beck Depression Inventory [BDI], Social Interaction Anx…

Lipid metabolism during exercise I: Physiological and biochemical characterization of normal healthy male subjects in relation to their physical fitn…

1978

On the basis of maximal oxygen uptake (\(\dot V\)O2 max) 18 normal, healthy men were divided into two groups of equal size: moderately trained subjects (MTR) each having \(\dot V\)O2 max below 65.0 ml·min−1·kg−1 body weight (54.0±8.3) and well trained subjects (WTR), whose \(\dot V\)O2 max exceeded 65.0 ml·min−1·kg−1 body weight (69.2±4.1). The WTR group had slightly (non significant, n.s.) higher percentage of slow twitch, oxidative (SO) fibers in M. vastus lateralis and higher (n.s.) activities of cytochrome c oxidase (CytOx), succinate dehydrogenase (SDH), 3-hydroxyacyl-CoA-dehydrogenase (HADH), and citrate synthase (CS), while lactate dehydrogenase (LDH) activity was lower (n.s.). In th…