Search results for "Metabolic disease"
showing 10 items of 778 documents
Metformin induces lipid changes on sphingolipid species and oxidized lipids in polycystic ovary syndrome women.
2019
Metformin is one of the treatments used for pcoS pathology decreasing body weight, plasma androgen, FSH and glucose levels. Unfortunately, there is little known about metformin’s effects on lipid metabolism, a crucial process in pcoS pathology. We have employed a lipidomic approach to explore alterations in the plasma lipid profile of patients with PCOS following metformin treatment. The aim is to offer new insights about the effect of metformin in PCOS patients. Plasma samples were obtained from 27 subjects prior to and following 12 weeks of metformin treatment. A detailed biochemical characterization and lipidomic profile was performed. Metformin reduces BMI, HOMA-IR, fSH and androstenedi…
Markers of Anemia in Children with Type 1 Diabetes
2018
Aim. The aim of the study was to assess markers of anemia in type 1 diabetes (T1D) children, compare them to results obtained in the control group, and estimate their relation to BMI SDS. Methods. 94 (59% ♀) T1D children without other autoimmune disorders, aged 12.5 ± 4.1 years, T1D duration: 4.2 ± 3.6 years, HbA1c 7.3 ± 1.5% (57 ± 12.6 mmol/mol). Sex- and age-matched controls (43 children). In all children, anthropometric measurements, the blood count, iron turnover parameters, and vitamin B12 concentration were taken. Results. T1DM children had significantly higher red cell distribution width (RDW) (13.6 versus 12.6%; p<0.001), hepcidin (0.25 versus 0.12 ng/ml; p<0.001), and vitamin…
Effect of simvastatin on desaturase activities in liver from lean and obese zucker rats
1993
The effect of simvastatin, a hypocholesterolemic drug, on the biosynthesis of arachidonic acid was studied in obese and lean Zucker rats. After administration of 2 mg/kg body weight/d for 13 d, delta 6 and delta 5 desaturase activities were measured in liver microsomes at two substrate concentrations. In untreated rats, the delta 6 desaturation rate was similar in the obese and lean rats when measured at saturating substrate levels, whereas delta 5 desaturation was lower in the obese animals. Treatment with simvastatin did not change delta 6 desaturation in either phenotype but increased delta 5 desaturation in obese rats to reach the unchanged rate observed in lean animals. The changes wer…
Wild-type Cu/Zn superoxide dismutase stabilizes mutant variants by heterodimerization
2014
Mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1) are responsible for a subset of amyotrophic lateral sclerosis cases presumably by the acquisition of as yet unknown toxic properties. Additional overexpression of wild-type SOD1 in mutant SOD1 transgenic mice did not improve but rather accelerated the disease course. Recently, it was documented that the presence of wild-type SOD1 (SOD(WT)) reduced the aggregation propensity of mutant SOD1 by the formation of heterodimers between mutant and SOD1(WT) and that these heterodimers displayed at least a similar toxicity in cellular and animal models. In this study we investigated the biochemical and biophysical properties of obligate…
Reciprocal translocation t(1;18)(p32;q21) in a patient with some phenotypical anomalies
1987
The authors report on a case of 1;18 translocation and request contact with any colleagues who have observed similar cases.
Mitochondrial DNA variations in patients with Type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population
1999
The LDL-receptor gene point mutation FH-Genoa/Palermo is the most frequent mutation responsible for Familial Hypercholesterolemia in Sicily. The mutation does not introduce or abolish any useful restriction site. We establish a GeneComb-based strategy to identify this mutation in a population of Sicilian unrelated clinically diagnosed FH probands. The method was very sensitive and specific; 12 out of 90 (13.3%) unrelated FH probands were found to carry the FH-Genoa/Palermo mutation. According to these results, the FH-Genoa/Palermo is the more frequent LDL-receptor gene mutation among the Sicilian FH patients. Moreover FH-Genoa/Palermo is the mutation cluster to date more represented in Sout…
Some notes on the geographical distribution of the human red cell acid phosphatase phenotypes
1972
Basing on the data of 65 populations the geographical variability of the human red cell acid phosphatase phenotypes resp. alleles was studied. We found a marked distribution gradient: The frequency of pB-alleles increases with the increase of the mean annual temperature of the various biotops, whereas the pA-allele frequencies show a clear decrease. For this allele we calculated a significant negative correlation between its frequency and the mean annual temperature: r=-0.71; P<0.001. We suppose that the pB-allele is in some way adaptive under the climatic conditions of tropical biotops. The possible reasons are discussed.
Hutchinson Gilford Progeria Syndrome: A Therapeutic Approach via Adenoviral Delivery of CRISPR/cas Genome Editing System
2015
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare human genetic disease caused by mutations in the LMNA gene. LMNA codes for structural components of the nuclear lamina. Alterations of nuclear lamina lead to a very variable class of diseases known as laminopathies. In detail, HGPS manifests a severe premature ageing phenotype due to the accumulation of a dominant negative form of lamin-A called progerin. With current treatments, the life expectancy of HGPS patients does not exceed their second decade. Death is usually due to cardiovascular complications. Recently, a new technology for mammals in vivo gene editing has been developed: the clustered regularly interspaced short palindromic …
Characterization of Metabolically Healthy Obese People and Metabolically Unhealthy Normal-Weight People in a General Population Cohort of the ABCD St…
2017
There is actually no consensus about the possibility that in some instances, obesity may be a benign metabolically healthy (MH) condition as opposed to a normal-weight but metabolically unhealthy (MUH) state. The aim of this study was to characterize MH condition and to investigate possible associations with metabolic and cardiovascular complications. One thousand nineteen people (range of age 18–90 years) of the cohort of the ABCD_2 study were investigated. Participants were classified as normal weight (BMI < 24.9 kg/m2) or overweight-obese (BMI ≥25 kg/m2); they were also classified as MH in the presence of 0-1 among the following conditions: (a) prediabetes/type 2 diabetes, (b) hyperte…
Using concept mapping in the development of the EU-PAD framework (EUropean-Physical Activity Determinants across the life course): a DEDIPAC-study
2016
International audience; Background: A large proportion of European children, adults and older adults do not engage in sufficient physical activity ( PA). Understanding individual and contextual factors associated with PA behaviours is essential for the identification and implementation of effective preventative environments, policies, and programmes that can promote an active lifestyle across life course and can potentially improve health. The current paper intends to provide 1) a multi-disciplinary, Pan-European and life course view of key determinants of PA behaviours and 2) a proposal of how these factors may cluster. Methods: After gathering a list of 183 potential PA behaviours-associa…