Search results for " Metabolic diseases"
showing 10 items of 699 documents
Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders
2004
Mutations in ABCA1 have been shown to be the cause of Tangier disease (TD) and some forms of familial hypoalphalipoproteinemia (HA), two genetic disorders characterized by low plasma HDL levels. Here we report six subjects with low HDL, carrying seven ABCA1 mutations, six of which are previously unreported. Two mutations (R557X and H160FsX173) were predicted to generate short truncated proteins; two mutations (E284K and Y482C) were located in the first extracellular loop and two (R1901S and Q2196H) in the C-terminal cytoplasmic domain of ABCA1. Two subjects found to be compound heterozygotes for ABCA1 mutations did not have overt clinical manifestations of TD. Three subjects, all with prema…
Central obesity and hypertensive renal disease: association between higher levels of BMI, circulating transforming growth factor beta1 and urinary al…
2004
OBJECTIVE: In this study, the relationship between circulating transforming growth factor beta1 (TGFbeta1) and urinary albumin excretion (UAE) has been investigated in non-obese and central obese hypertensive patients. DESIGN AND PATIENTS: Fifty-eight consecutive hypertensive outpatients both lean and with central obesity were enrolled and divided in three groups, according to their body mass index (BMI) values. Group A: 16 lean hypertensives (men with BMI or = 25 kg/m2 and 24.7 kg/m2 and or = 30 kg/m2 and women with BMI > or = 27.3 kg/m2). MEASURES: In all patients, UAE, by immunonephelometric assay, circulating TGFbeta1 by a solid-phase specific sandwich enzyme-linked immunosorbent assay …
Alterations in lipid, carbohydrate and iron metabolism in patients with non-alcoholic steatohepatitis (NASH) and metabolic syndrome
2010
NASH (non-alcoholic steatohepatitis) is considered the hepatic manifestation of the metabolic syndrome (MS). We aimed to analyze lipid, carbohydrate, and iron metabolism in NASH.37 patients with MS (17 M/20 F, 51+/-15 years), elevated transaminases; 25 patients had histologically proven NASH (NAS score≥5), 12 patients had toxic background (nonNASH). 37 age, sex, BMI-matched healthy controls. Lipid variables, LDL-subfractions, iron, ferritin, transferrin (T), transferrin saturation (TS), and hepcidin (H) were measured in patients/controls. Oral glucose tolerance tests were performed.NASH patients with steatosis gr. 2 and 3 (33% hepatic fat) had higher sd-LDL (mg/dl) concentrations than patie…
Coronary calcium score and computed tomography coronary angiography in high-risk asymptomatic subjects: assessment of diagnostic accuracy and prevale…
2010
The aim of the study was to compare the coronary artery calcium score (CACS) and computed tomography coronary angiography (CTCA) for the assessment of non-obstructive/obstructive coronary artery disease (CAD) in high-risk asymptomatic subjects. Two hundred and thirteen consecutive asymptomatic subjects (113 male; mean age 53.6 +/- 12.4 years) with more than one risk factor and an inconclusive or unfeasible non-invasive stress test result underwent CACS and CTCA in an outpatient setting. All patients underwent conventional coronary angiography (CAG). Data from CACS (threshold for positive image: Agatston score 1/100/1,000) and CTCA were compared with CAG regarding the degree of CAD (non-obst…
Double-blind cross-over study with oral alpha-ketoacids in patients with chronic renal failure.
1980
In 15 ambulatory patients with renal insufficiency (creatinine clearance, 9.9 +/- 3.0 ml/min) the effect of oral supplementation with alpha-ketoacids has been compared with that of placebo. The protein intake amounted to 0.55 g protein per kilogram body weight of high biological value, as estimated by dietary recordings. After a control period of 3 months the patients received, in a double-blind study, 1.05 g alpha-ketoacids/10 kg body weight per day or a placebo for 6 weeks with a subsequent cross-over. Fasting blood samples were analyzed at 3-week intervals for routine laboratory parameters and 17 proteins. Anthropometric and clinical data have been recorded every 3 weeks. While therapy w…
BODY MASS INDEX DOES NOT CHANGE BEFORE PARKINSON'S DISEASE ONSET.
2008
Background and purpose: Previous studies on the association between Parkinson’s disease (PD) and body mass index (BMI) have reported conflicting results. We investigated the relationship between PD and BMI by a case–control study. Methods: PD patients were randomly matched to healthy individuals by sex and age. BMI distribution in cases has been compared with BMI of controls and odd ratios (ORs) with 95% CI were calculated. Results: We included 318 PD patients and 318 controls. We observed no association between PD and BMI. BMI distribution in cases and controls was similar also when we adjusted for diabetes, hypercholesterolemia and the time elapsed between PD onset and the interview (O…
Increased prevalence of obesity in narcoleptic patients and relatives
2001
Increased Body Mass Indices (BMIs), increased prevalences of non insulin-dependent diabetes and sleep apnoe syndrome have been reported to be associated with narcolepsy. Our objective was to explore and possibly confirm the association of narcolepsy and increased BMI. In addition, we addressed the question whether increased BMIs also occur in relatives of narcoleptic patients. Together with narcolepsy-related clinical parameters we measured body weight and height of 132 narcoleptic patients who agreed to participate in our narcolepsy research program. In addition, 52 first degree relatives of 22 index patients, mostly from multiplex families, were included in the study. Data were compared t…
Association of metabolic syndrome and its components with hyperuricemia in a Mediterranean population.
2015
Several studies have found an association between hyperuricemia and metabolic syndrome (MS), although there are discrepancies as to which MS components play a pivotal role in this association. We aimed to investigate the association between serum uric acid (SUA) levels and MS in a Mediterranean population (eastern Spain). We performed a case-control study of 71 patients with MS and 122 healthy controls. MS was defined according to the revised National Cholesterol Education Program Adult Treatment Panel III modified criteria. Hyperuricemia was defined as SUA levels >6.55 mg/dL. We determined biochemical, lipidic and inflammatory parameters along with uric acid. Patients with MS showed a high…
Prevalence of metabolic syndrome and cardiovascular disease in a hypertriglyceridemic population
2011
BACKGROUND: We aim to study the prevalence of metabolic syndrome (MS), hypertension and diabetes, and their relationship to cardiovascular disease in subjects with hypertriglyceridemia. METHODS: This is an observational cross-sectional study, uncontrolled and multicentre study. Selected subjects were patients with hypertriglyceridemia (triglycerides, TG, ≥ 200 mg/dl) visited in the Lipid Units of the Spanish Arteriosclerosis Society who met the inclusion criteria. Prevalence of MS (ATPIII and IDF criteria, MS-ATPIII or MS-IDF), hypertension and diabetes were studied. The presence of cardiovascular disease (CVD) was also determined. RESULTS: The results showed that individuals referred for h…
Low- and high-density lipoprotein subclasses in subjects with nonalcoholic fatty liver disease.
2014
BACKGROUND: Nonalcoholic fatty liver disease (NAFLD) is associated with increased cardiometabolic risk. Although dyslipidemia represents a key factor in this disease, its impact on serum levels of distinct lipoprotein subfractions is largely unknown.OBJECTIVE: To assess the full low-density lipoprotein (LDL) and high-density lipoprotein (I-EDL) profiles in patients with NAFLD.METHODS: Seven LDL and 10 HDL subfractions were assessed by gel electrophoresis (Lipoprint, Quantimetrix Corporation, USA) in men with biopsy proven NAFLD (simple steatosis [n = 17, age, 34 7 years] and nonalcoholic steatohepatitis [NASH; n = 24, age, 32 +/- 6 years]). Exclusion criteria included robust alcohol consump…