Search results for "Mutagenesi"
showing 10 items of 2484 documents
Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
2011
Abstract Background Autosomal dominant hypercholesterolemias (ADHs) are characterised by increased plasma levels of total and LDL cholesterol, predisposing to premature atherosclerosis. ADHs comprise several diseases with undistinguishable phenotype, caused by mutations in different genes: LDLR, APOB and PCSK9. Genetic studies are usually performed in patients with altered cholesterol levels. However, some persons carrying pathogenic mutations are normocholesterolemic and there are no further studies about this subject. We have studied the frequency of families and individuals carrying ADH mutations who do not present the disease in Spanish population. Methods We have analysed genes known t…
Factors Related to Women’s Psychological Distress during the COVID-19 Pandemic: Evidence from a Two-Wave Longitudinal Study
2021
Background. A growing body of research has highlighted the negative effects of the COVID-19 pandemic on women’s mental health. Previous studies showed that women have higher levels of depression, anxiety and PTSD, and worse psychological adjustment than men, which also persisted after the earlier phase of the pandemic. This study aimed to evaluate changes in women’s psychological distress during the pandemic and to evaluate the factors that have a more significant impact in predicting women’s psychological distress. Methods. This two-wave longitudinal study (T1 = Italian first lockdown, and T2 = second phase, when the restrictive measures were eased) involved 893 women (Mage = 36.45, SD = 1…
Resilience Scale Psychometric Study. Adaptation to the Spanish Population in Nursing Students
2020
Nursing students and professionals are exposed to highly stressful clinical situations. However, when confronted with stress, which is exacerbated by academic and professional situations, there is a great disparity between those who do not know how to respond suitably to the demands from patients or teachers due to a lack of competence and personal resistance, and those who are more resilient and develop a greater range of strengths. This research aims to analyse the validity and psychometric characteristics of a questionnaire on resilience adapted to Spanish nursing bachelor’s degree students. The participants were 434 undergraduate nursing students from the province of Valencia (Spain) be…
Is There a Direct Link between Sexual Satisfaction and Restrictions during the Second Wave of the COVID-19 Pandemic?
2022
Background: Research suggested that the COVID-19 pandemic-related restrictions decreased sexual function and satisfaction. The present study examines the direct relationship between sexual satisfaction and restrictions during the second wave of the COVID-19 pandemic. Methods: A cross-sectional study was performed in Poland between 3 September 2020 and 18 January 2021. A convenience sample of 1364 adults, aged 18–67 (M = 25.13, SD = 6.45), among whom 62.39% were women, and 23.17% were single, completed anonymous web-based survey. The Sexual Satisfaction Questionnaire (SSQ) and Stringency Index (IS) were used to assess sexual satisfaction and the level of restrictions during the pandemic, res…
Predicting Professional Quality of Life and Life Satisfaction in Spanish Nurses: A Cross-Sectional Study
2020
Background: Dealing with suffering, grief, and death on a daily basis, together with the particular working conditions, may produce high levels of burnout in nurses, and hinder their well-being. The purpose of this research is to study the effect of self-care and self-compassion on nurses&rsquo
Occupational exposure to metal-rich particulate matter modifies the expression of repair genes in foundry workers
2021
Foundry workers are exposed to numerous occupational health hazards, which may result in increased risk of cancer, respiratory disease, and other diseases. Oxidative stress is known to be involved in the pathogenesis of such diseases. The present study aimed to investigate the association between multiple occupational exposures in foundry workers and expression of deoxyribonucleic acid (DNA) repair genes as a biomarker of oxidative DNA damage. The study sample comprised 17 foundry workers and 27 matched control subjects. Expression of 8-oxoguanine DNA glycosylase-1 (OGG1), inosine triphosphate pyrophosphate (ITPA), and MutT homolog 1 (MTH1) in peripheral blood was examined using the real-t…
Nursing Education in Catalonia: Novice Professionals’ Appraisal of Its Quality and Usefulness. Does Mobility Play a Role?
2020
The present study aimed to examine the relationship between the quality of undergraduate education perceived by novice nurses and their retrospective satisfaction with their education. It also studied the relationships between the perceived usefulness of their education for their current jobs and the quality of the jobs held by novice nursing professionals. The moderator role of mobility in this relationship was also analyzed, as it reflects a boundary condition in which additional preparation or job opportunities may occur. The study used data from the graduates’ survey carried out by the Agència per a la Qualitat del Sistema Universitari de Catalunya (AQU) in 2017. The analysis of data fr…
Unexpected variation of the codeine/morphine ratio following fatal heroin overdose.
2014
Postmortem samples from 14 cases of suspected heroin overdose were subjected to a preliminary systematic toxicological analysis in order to highlight the presence of unknown exogenous compounds (e.g., drugs of abuse, alcohol) that may have played a role in the mechanism of death. This analysis unveiled histories of poly-drug use in seven of the cases under investigation. Moreover, the concentrations of morphine and codeine in the brain were also investigated, and the results were compared with the data obtained from the blood specimens. The concentration of morphine in blood ranged from 33 to 688 ng/mL, while the concentration of codeine ranged from 0 to 193 ng/mL. However, in the brain, th…
Development of a Rapid LC-MS/MS Method for the Determination of Emerging Fusarium mycotoxins Enniatins and Beauvericin in Human Biological Fluids
2015
A novel method for the simultaneous determination of enniatins A, A1, B and B1 and beauvericin, both in human urine and plasma samples, was developed and validated. The method consisted of a simple and easy pretreatment, specific for each matrix, followed by solid phase extraction (SPE) and detection by high performance liquid chromatography-tandem mass spectrometry with an electrospray ion source. The optimized SPE method was performed on graphitized carbon black cartridges after suitable dilution of the extracts, which allowed high mycotoxin absolute recoveries (76%–103%) and the removal of the major interferences from the matrix. The method was extensively evaluated for plasma and urine …
Polychlorinated diphenyl ethers, dibenzo-p-dioxins and dibenzofurans in finnish human tissues compared to environmental samples
1995
Finnish human samples from the Helsinki area and Arctic cod samples from Vestertana Fjord (Norway) were analyzed for polychlorinated diphenyl ethers (PCDE) and 2,3,7,8-chloro substituted dibenzo-p-dioxins (PCDD) and dibenzofurans (PCDF). The PCDE, PCDD and PCDF contents in human and animal samples from Finland and elsewhere were briefly reviewed. PCDEs were non-detectable in human liver and testis, but some PCDE congeners were identified in human adipose tissue and fat of boiled Arctic cod liver composite. The contents of PCDEs in Finnish human samples were similar to those reported in the literature for human tissues from North America. The estimated concentrations of PCDEs 99, 147 + 153 (…