Search results for "genetics [Transcriptome]"
showing 10 items of 3033 documents
Respiratory chain polymorphisms and obesity in the Spanish population, a cross-sectional study
2019
ObjectiveTo study the association of genes involved in the mitochondrial respiratory chain (MRC) pathway with body mass index (BMI) and obesity risk.DesignThis work studies three cross-sectional populations from Spain, representing three provinces: HORTEGA (Valladolid, Northwest/Centre), SEGOVIA (Segovia, Northwest/centre) and PIZARRA (Malaga,South).SettingForty-eight single nucleotide polymorphisms (SNPs) from MRC genes were selected and genotyped by SNPlex method. Association studies with BMI and obesity risk were performed for each population. These associations were then verified by analysis of the studied population as a whole (3731 samples).ParticipantsA total of 3731 Caucasian indivi…
Expansion of intestinal Prevotella copri correlates with enhanced susceptibility to arthritis.
2013
Rheumatoid arthritis (RA) is a prevalent systemic autoimmune disease, caused by a combination of genetic and environmental factors. Animal models suggest a role for intestinal bacteria in supporting the systemic immune response required for joint inflammation. Here we performed 16S sequencing on 114 stool samples from rheumatoid arthritis patients and controls, and shotgun sequencing on a subset of 44 such samples. We identified the presence of Prevotella copri as strongly correlated with disease in new-onset untreated rheumatoid arthritis (NORA) patients. Increases in Prevotella abundance correlated with a reduction in Bacteroides and a loss of reportedly beneficial microbes in NORA subjec…
Uncertainty quantification in simulations of epidemics using polynomial chaos.
2012
Mathematical models based on ordinary differential equations are a useful tool to study the processes involved in epidemiology. Many models consider that the parameters are deterministic variables. But in practice, the transmission parameters present large variability and it is not possible to determine them exactly, and it is necessary to introduce randomness. In this paper, we present an application of the polynomial chaos approach to epidemiological mathematical models based on ordinary differential equations with random coefficients. Taking into account the variability of the transmission parameters of the model, this approach allows us to obtain an auxiliary system of differential equa…
Effect of continuous oestradiol-medroxyprogesterone administration on plasma lipids and lipoproteins
1991
Plasma lipids and lipoproteins were measured in 21 post-menopausal women after 4 and 8 months of continuous treatment with an orally administered combination of oestradiol and medroxyprogesterone acetate. The mean concentrations of cholesterol and low-density-lipoprotein (LDL) cholesterol were reduced by 12% (P less than 0.001) and 11% (P less than 0.01), respectively, after 4 months of treatment and by 9% (P less than 0.05) and 12% (P less than 0.05) after 8 months. The mean level of high-density-lipoprotein (HDL) cholesterol showed an initial fall of 5% (P less than 0.05) after 4 months and then increased by 13% (P less than 0.05) after 8 months of treatment. The plasma triglycerides leve…
Soothing the seizures of children.
2008
Endocannabinoids are versatile molecules, regulating a variety of functions in the body. Daniele Piomelli explores how recent clinical trials testing rimonabant, an inhibitor of endocannabinoid signaling, for weight loss emerged from studies of individuals with schizophrenia; such trials have spurred basic research into how endocannabinoids affect both energy use and mood. Beat Lutz and Krisztina Monory examine how rimonabant might prove useful for preventing the development of adult epilepsy in response to fever-induced seizures in infants and young children.
Analysis of Selected Body Composition Parameters and Ergonomic Safety among Professionally Active Nurses in Poland: A Preliminary Prospective Monocen…
2020
Nurses consist of an occupational group that is particularly exposed to harmful work-related factors such as prolonged working hours, severe stress, fatigue, and excessive strain on the musculoskeletal system. According to nurses, the limitation of the application of ergonomic principles of work may contribute to the occurrence of numerous dangerous behaviors, improper eating habits, or deficiency of systematic physical activity. The most common consequences are nutritional disorders and musculoskeletal system dysfunctions. This prospective observational study was aimed at evaluating selected parameters of the body composition of professionally active nurses and at determining work-related …
Expression Levels and Clinical-Pathological Correlations of HER2/neu in Primary and Metastatic Human Breast Cancer
2005
In this retrospective study we assessed the expression of the HER2/neu oncogene product in a series of 574 consecutive breast cancer cases, all recruited at the Maurizio Ascoli Cancer Center of Civico Hospital, in Palermo, between January 1998 and June 2003. The HER2/neu expression was evaluated using immunohistochemistry and scored from 0 to +3 as per FDA recommendations. The HER2/neu expression levels were related to the clinical-pathological features of the disease, including tumor size, nodal and menopausal status, estrogen and progesterone receptors, and hormonal or chemotherapeutic treatment. In 108 patients with a follow-up period of 3 years or more, the HER2/neu expression was also …
Analysis of BNIP3 and BNIP3L/Nix expression in cybrid cell lines harboring two LHON-associated mutations.
2019
Mitochondria are key players in cell death through the activation of the intrinsic apoptosis pathway. BNIP3 and BNIP3L/Nix are outer mitochondrial membrane bifunctional proteins which because of containing both BH3 and LIR domains play a role in cellular response to stress by regulation of apoptosis and selective autophagy. Leber’s Hereditary Optic Neuropathy (LHON) is the most common mitochondrial disease in adults, characterized by painless loss of vision caused by atrophy of the optic nerve. The disease in over 90% of cases is caused by one of three mutations in the mitochondrial genome: 11778G>A, 3460G>A or 14484T>C. The pathogenic processes leading to optic nerve degeneration …
Impact of the AHI1 gene on the vulnerability to schizophrenia: a case-control association study.
2010
Background: The Abelson helper integration-1 (AHI1) gene is required for both cerebellar and cortical development in humans. While the accelerated evolution of AHI1 in the human lineage indicates a role in cognitive (dys)function, a linkage scan in large pedigrees identified AHI1 as a positional candidate for schizophrenia. To further investigate the contribution of AHI1 to the susceptibility of schizophrenia, we evaluated the effect of AHI1 variation on the vulnerability to psychosis in two samples from Spain and Germany. Methodology/Principal Findings: 29 single-nucleotide polymorphisms (SNPs) located in a genomic region including the AHI1 gene were genotyped in two samples from Spain (28…
Breast Cancer Incidence in the City and Province of Palermo in 1999-2002: A Breast Cancer Registry Report
2005
: The aim of this study was to assess the incidence of breast cancer in women from the city and province of Palermo (Sicily) in 1999, 2000, 2001, and 2002, using a population-based cancer registry approach. In recent years, a sharp increase of breast cancer incidence has been observed worldwide. Overall, direct age-standardized incidence rates (SIR) were 81.0 per 100,000 person-years, higher in Palermo City (89.4) than in Palermo Province (70.4). Results reported here show a highly significant difference in breast cancer incidence in different areas of Sicily, particularly in the youngest age groups; and a profound difference between the metropolitan area of Palermo and the surrounding area…