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showing 10 items of 7948 documents
Mutational analysis of 105 mucopolysaccharidosis type VI patients
2007
Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ARSB) gene. ARSB is a lysosomal enzyme involved in the degradation of the glycosaminoglycans (GAG) dermatan and chondroitin sulfate. ARSB mutations reduce enzyme function and GAG degradation, causing lysosomal storage and urinary excretion of these partially degraded substrates. Disease onset and rate of progression is variable, producing a spectrum of clinical presentation. In this study, 105 MPS VI patients—representing about 10% of the world MPS VI population—were studied for molecular genetic and biochemical parame…
Carotid intima-media thickness measurement through semi-automated detection software and analysis of vascular walls
2013
AIM: The aim of the present study was to compare the semi-automatic measurement of carotid intima thickness (RFQIMT - Esaote, Italy), with the conventional method. METHODS: We enrolle 81 patients, mean age 46 years ±15, with no history of cardio-cerebrovascular events and we assessed the traditional cardiovascular risk factors. We examined the IMT of the common carotid artery with manual and RFQIMT method (based on the "Radio Frequency" signal), according to the ASE protocol. RESULTS: Semi-automatic measurement was on average lower than manual measurement (617 μm ±191 vs. 676 μm ± 222) with a statistically significant difference (P<0.01). In agreement with manual measurements, the values of…
Biocompatibility of various collagen membranes in cultures of human PDL fibroblasts and human osteoblast-like cells
2004
The aim of the present study was to evaluate the biocompatibility of differently cross-linked collagen membranes in cultures of human PDL fibroblasts and human osteoblast-like cells. Four collagen membranes [BioGide (BG), BioMend (BM), Ossix (OS) and TutoDent (TD)] were tested. Cells plated on culture dishes (CD) served as positive controls. Six specimens of each membrane were incubated with (1) human PDL fibroblasts [2 x 10(4) cells] (n=24), and (2) human osteoblast-like cells (SaOs-2) [2 x 10(4) cells] (n=24) under standardized conditions. After 7 days, adherent cells were stained with hematoxylin and counted using a reflected light microscope and the cell density per square millimeter wa…
False positive rate of an arrayCGH platform for single-cell preimplantation genetic screening and subsequent clinical application on day-3
2013
In this work, false positive rate of an arrayCGH platform for its use in day-3 single-blastomere analysis was calculated. For this purpose, 38 embryos diagnosed as abnormal on day-3 by FISH were re-biopsied on day-4. Single-cell day-4 arrayCGH diagnosis was then performed. A successful amplification was obtained in 97.4 % (37/38) of the day-4 cells analysed by arrayCGH. Day-3 FISH and day-4 arrayCGH diagnosis were concordant in 35/37 cases. The two discordant embryos were spread and all the cells from each embryo were re-analysed by FISH on day 5. The same error rate (2.7 %) for day-3 FISH and day-4 arrayCGH was obtained when comparing day-5 FISH re-analysis. After this pre-clinical phase, …
Improved usability of the minimal model of insulin sensitivity based on an automated approach and genetic algorithms for parameter estimation.
2006
Minimal model analysis of glucose and insulin data from an IVGTT (intravenous glucose tolerance test) is widely used to estimate insulin sensitivity; however, the use of the model often requires intervention by a trained operator and some problems can occur in the estimation of model parameters. In the present study, a new method for minimal model analysis, termed GAMMOD, was developed based on genetic algorithms for the estimation of model parameters. Such an algorithm does not require the fixing of initial values for the parameters (that may lead to unreliable estimates). Our method also implements an automated weighting scheme not requiring manual intervention of the operator, thus impro…
The pancreatic beta-cell response to intravenous administration of glucose in elderly subjects.
1970
A study was made of the serum insulin level after the intravenous administration of glucose (0.33 gm/ kg) in two groups of normal subjects—18 in the 60–85 age bracket, and 16 in the 23–45 age bracket. All had a normal coefficient of glucose utilization and a normal blood glucose curve after intravenous administration of glucose. Serum insulin was assayed by the radio-immunological method, with use of an ion exchange resin. Blood samples were drawn at 2, 5, 10, 30, 45 and 60 minutes after the end of the glucose infusion. In the elderly subjects the maximal value was reached only after 5 minutes and the mean value was 39± 9 µU/ml (range, 27–50), whereas in the younger subjects the serum insul…
Lipase elevation and type 1 diabetes mellitus related to immune checkpoint inhibitor therapy – A multicentre study of 90 patients from the German Der…
2021
Abstract Aim Immune checkpoint inhibition (ICI) triggers immune-related adverse events (irAEs). The relevance of lipase elevation remains unclear. Patients and methods Skin cancer patients with newly detected serum lipase elevation (at least twofold upper normal limit) or newly diagnosed type I diabetes mellitus upon ICI therapy were retrospectively collected at 14 German skin cancer centres. Results We identified 68 patients with lipase elevation occurring after a median time of 19 (range 1–181) weeks on ICI, 15 (22%) thereof had symptoms consistent with pancreatitis. Forty-seven patients (73%) had other irAE, mainly colitis. Discontinuation (n = 24, 35%) or interruption (n = 26, 38%) of I…
Erratum: Effect of magnesium supplementation on glucose metabolism in people with or at risk of diabetes: a systematic review and meta-analysis of do…
2016
Although higher dietary intakes of magnesium (Mg) seem to correspond to lower diabetes incidence, research concerning Mg supplementation in people with or at risk of diabetes is limited. Thus, we aimed to investigate the effect of oral Mg supplementation on glucose and insulin-sensitivity parameters in participants with diabetes or at high risk of diabetes compared with placebo. A literature search in PubMed, EMBASE, SCOPUS, Cochrane Central Register of Controlled Trials and Clinicaltrials.gov without language restriction, was undertaken. Eligible studies were randomized controlled trials (RCTs) investigating the effect of oral Mg supplementation vs placebo in patients with diabetes or at h…
The prevalence of abnormal glucose regulation in patients with coronary artery disease across Europe. The Euro Heart Survey on diabetes and the heart.
2004
Aim The objective behind the Euro Heart Survey on diabetes and the heart was to study the prevalence of abnormal glucose regulation in adult patients with coronary artery disease (CAD). Methods and results The survey engaged 110 centres in 25 countries recruiting 4196 patients referred to a cardiologist due to CAD out of whom 2107 were admitted on an acute basis and 2854 had an elective consultation. Patient data were collected via a web-based case record form. An oral glucose tolerance test (OGTT) was used for the characterisation of the glucose metabolism. Thirty-one per cent of the patients had diabetes. An OGTT was performed on the 1920 patients without known diabetes, of whom 923 had a…
Glucose but Not Protein or Fat Load Amplifies the Cortisol Response to Psychosocial Stress
2002
We previously reported that glucose intake amplifies cortisol response to psychosocial stress and smoking in healthy young men, while low blood glucose levels prevented the stress-induced activation of the hypothalamus pituitary adrenal (HPA) axis. However, it remains unknown whether this modulation is specific for glucose load or a more common effect of energy availability. To elucidate this question, 37 healthy men, who fasted for at least 8 h before the experiment, were randomly assigned to four experimental groups, who received glucose (n = 8), protein (n = 10), fat (n = 10), and water (n = 9), one h before their exposure to the Trier Social Stress Test (TSST). Blood glucose levels were…