Search results for "ERAS"
showing 10 items of 4431 documents
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…
Enhanced reduction in oxidative stress and altered glutathione and thioredoxin system response to unsaturated fatty acid load in familial hypercholes…
2014
Abstract Objectives Familial hypercholesterolemia (FH) is characterized by increased oxidative stress (OS) levels. In the postprandial state, lipids and lipoproteins modulate OS status through their impact on pro-oxidant and antioxidant mechanisms. The objective of this study was to evaluate in patients with FH the response to an unsaturated oral fat load test (OFLT) by analyzing the mRNA levels of genes involved in the glutathione and thioredoxin antioxidant systems. Design and Methods We analyzed 14 FH patients and 20 normolipidemic and normoglycemic controls. In both groups, mRNA values of antioxidant enzyme genes (glutathione and thioredoxin systems) were determined at baseline and at 2…
Serotonergic polymorphisms in patients suffering from alcoholism, anxiety disorders and narcolepsy.
2001
Abstract 1. Alterations in the serotonergic neurotransmission have been frequently described for patients suffering from alcoholism, anxiety disorders and narcolepsy. 2. The authors tested for association of the 5-HT2A receptor polymorphism (T102C) and the intron 7 tryptophan hydroxylase (TPH) polymorphism (A218C) among 176 alcohol dependent patients, 35 patients with panic disorder, 50 patients with generalized anxiety disorder, 55 patients with narcolepsy and 87 healthy controls. 3. Allele and genotype frequencies of the 5-HT2A receptor polymorphism (T102C), the intron 7 TPH polymorphism (A218C) were almost similar between the patients suffering from alcohol dependence, panic disorder, ge…
Confirmation of association of the GABRA2 gene with alcohol dependence by subtype-specific analysis
2006
Objectives: Three recent studies revealed a haplotypic association of alcohol dependence with the gene encoding the {alpha}2 subunit of the {gamma}-aminobutyric acid type A (GABAA) receptor (GABRA2). The present study examined whether variation of the GABRA2 gene confers susceptibility to different subtypes of alcohol dependence in the German population. Methods: A total of 257 German alcohol-dependent patients and 88 healthy population controls were genotyped for six single-nucleotide polymorphisms covering the middle part and the 3′ end of GABRA2. Allelic, genotypic and haplotypic comparisons were done for subgroups of alcohol-dependent patients with a presumed high genetic load. Results:…
Polymorphisms in the N-methyl-D-aspartate receptor 1 and 2B subunits are associated with alcoholism-related traits.
2003
Abstract Background This study examined the hypothesis that allelic variants of the ionotropic glutamatergic N-methyl-D-aspartate receptor (NMDAR) are associated with vulnerability to alcoholism and some related traits. Methods We investigated the silent G2108A and C2664T polymorphisms of the NMDAR1 and the NMDAR2B genes, respectively. The case control study included 367 alcoholic and 335 control subjects of German origin. The family-based study comprised 81 Polish alcoholic patients and their parents using the transmission disequilibrium test. Results The genotype frequencies of the NMDAR1 polymorphism differed significantly between control and alcoholic subjects. This difference was also …
Expression of PSA-NCAM and synaptic proteins in the amygdala of psychiatric disorder patients.
2011
Neuroimaging has revealed structural abnormalities in the amygdala of different psychiatric disorders. The polysialylated neural cell adhesion molecule (PSA-NCAM), a molecule related to neuronal structural plasticity, which expression is altered in schizophrenia, major depression and in animal models of these disorders, may participate in these changes. However, PSA-NCAM has not been studied in the human amygdala. To know whether its expression and that of presynaptic markers, was affected in psychiatric disorders, we have analyzed post-mortem sections from the Stanley Neuropathology Consortium, which includes controls, schizophrenia, bipolar and major depression patients. PSA-NCAM was expr…
Association of C677T polymorphism in MTHFR gene, high homocysteine and low HDL cholesterol plasma values in heterozygous familial hypercholesterolemi…
2010
Aim: to investigate the association of C677T polymorphism in the methylene tetrahydrofolate reductase (MTHFR) gene, homocysteine plasma values (Hcy), and plasma HDL cholesterol in heterozy-gous familial hypercholesterolemia (hFH).Methods: One hundred and twenty-five hFH subjects were studied. Plasma lipid, lipoprotein, vitamin B12, folic acid and Hcy values were determined. C677T polymorphism in the MTHFR gene was detected by SSCP-PCR. Genetic diagnosis of FH was determined by a three-step protocol using SSCP-PCR, Southern blot, long PCR and automatic sequencing.Results: We found significant differences in plasma HDL-C (CC 1.39±0.34, CT 1.33±0.39 and TT 1.14±0.26 mmol/L, p=0.028) between th…
Methionine synthase reductase (MTRR) A66G polymorphism is not related to plasma homocysteine concentration and the risk for vascular disease.
2009
Epidemiological evidence has revealed that hyperhomocysteinemia increases the risk for vascular disease. Methionine Synthase Reductase (MTRR) is one of several key enzymes in the homocysteine metabolic pathway and its mutant forms have been implicated in abnormal homocysteine accumulation. In this study, we determined total plasma homocysteine levels and MTRR A66G polymorphism in 114 patients with vascular disease: 58 patients with deep-vein thrombosis, 56 patients with arterial thrombosis, and 95 healthy subjects from the Sicilian population. Our data confirmed that, as already reported, moderately elevated t-Hcy levels are correlated with an increased risk of vascular disease. In our stud…
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…
Evaluation of Bone Marrow Infiltration in Non-Neuropathic Gaucher Disease Patients with Use of Whole-Body MRI--A Retrospective Data Analysis.
2015
Purpose: To evaluate whole-body magnetic resonance imaging (WB-MRI) for the assessment of bone marrow infiltration in patients with confirmed Gaucher disease type 1 under long-term enzyme replacement therapy (ERT). Materials and Methods: This retrospective data analysis included 38 patients in two subgroups. Group A: 10 females, 9 males, 15 – 29 years, mean age 22 years and Group B: 11 females, 8 males, 29 – 77 years, mean age 49 years, all treated with alglucerase or imiglucerase for at least 12.5 years. Whole-body MRI was carried out in all patients using a standard MRI protocol. Two radiologists assessed all MR images retrospectively with the use of three different MRI score systems: The…