BackgroundThe Mediterranean fever (MEFV) gene codes for protein pyrin, one of the regulators of inflammasome activity in innate immune cells. Mutations in this gene are considered the primary cause of Familial Mediterranean fever, but are also found in other monogenic and multifactorial autoinflammatory diseases. The aim of the study was to determine if healthy carriers of MEFV gene mutations and R202Q polymorphism have clinical manifestations of inflammation and impaired oxidative stress parameters.MethodsOne hundred DNA samples from healthy volunteers (13.3 ± 8.87 years of age (mean ± SD); range 2–35) were sequenced by ABI PRISM 310 automated sequencer (PE Applied Biosystems, Norwalk, USA). The Eurofever questionnaire was used to collect retrospectively medical history data. Oxidative stress was determined by measuring spectrophotometrically thiobarbituric acid reactive substances (TBARS) in plasma and erythrocytes, as well as advanced oxidation protein products in plasma. Superoxide dismutase (SOD) activity was determined by McCord and Fridovich method in plasma and erythrocytes, while the catalase erythrocyte activity was assessed using a catalase ELISA kit.ResultsWe found heterozygous carriers of K695R/N mutations in 5 %, E148Q/N mutations in 6 %, R202Q homozygous polymorphism in 10 % and heterozygous R202Q alterations in 45 % of healthy volunteers. The MEFV mutation carriers and R202Q polymorphism homozygotes reported significantly more often recurrent febrile episodes (p = 0.009), diffuse abdominal pain (p = 0.025), and malaise (p = 0.012) compared to non-carriers. Erythrocyte TBARS levels and plasma SOD activity were higher in persons with MEFV mutations and R202Q/R202Q (p = 0.03 and p = 0.049, respectively).ConclusionsHealthy individuals may bear E148Q and K695R MEFV gene mutations, as well as R202Q polymorphism in homozygous state. The determined gene alterations contribute to a subtle oxidative stress and may be associated with more frequent episodes of fever and unspecific inflammatory manifestations. An incomplete penetrance or variable expressivity of R202Q in populations of different ethnicity could influence the expression of autoinflammatory diseases phenotype.
Aim: CAM- ICU is instrument for brief delirium screening in the intensive care unit (ICU) for ventilated and non-ventilated patients. The aim of this study was to translate, validate and evaluate the applicability of this instrument in the Serbian speaking area. Methods: Translation of the CAM-ICU was made according to International Society for Pharmacoeconomics and Outcomes Research guidelines. In this prospective cohort study, CAM-ICU was applied to 301 adult surgical ICUs by two different raters. We tested CAM-ICU for interrater reliability by correlation between them. The scale was validated by comparison with the reference evaluation, wich was done by a psychiatrist using the Diagnostic and Statistical Manual of Mental Disorders V (DSM-V). Interrater agreement was measured using weighted kappa (k) and correlation used Spearman´s test. Results: The Spearman correlation coefficient was highly significant for rater 1 (r=0.672, p<0.001) and for rater 2 (r=0.625, p<0.001). The inter-rater reliability expressed by the kappa coefficient between rater 1 and rater 2 was highly significant (k= 0.859, 95% CI, 0.910-0.99, p<0.001). Conclusion: CAM- ICU, the first validated instrument for early detection of delirium in the Serbian speaking area, is reliable, valid and easily applied in daily clinical practice.
Introduction Risk factor differences among offspring of patients with premature coronary heart disease (CHD) have not been widely studiem. Material and methods We examined 161 persons from the region of Banja Luka, including 81 children (mean age: 25.9 years, 45.7% female) with a history of CHD and a control group of 80 persons (mean age: 24.1, 50% female). Medical history interviews and risk factor measurements were performed. Results There were differences in mean body amss index (BMI) (26.1 kg/m2 vs. 23.1 kg/m2, p < 0.0001), waist circumference (87.7 cm vs. 83.9 cm, p = 0.002), hip circumference (99.3 cm vs. 95.84 cm, p < 0.002), systolic blood pressure (BP) (128.09 mm Hg vs. 122.7 mm Hg, p = 0.007), and diastolic BP (99.3 mm Hg vs. 95.8 mm Hg, p = 0.07). Moreover, HDL-cholesterol was significantly lower (1.1 mmol/l vs. 1.4 mmol/l, p = 0.0001), triglycerides significantly higher (2.2 mmol/l vs. 1.6 mmol/l, p = 0.001), and TC/HDL-ratio was significantly higher (5.1 vs. 4.0, p < 0.001) comparing cases and controls, respectively, adjusted for age, gender, and standard CHD risk factors total cholesterol, LDL and HDL cholesterol, smoking, systolic and diastolic BP, and BMI, those with HDL-C > 1.0 mmol/l in men and 1.2 mmol/l in women had a reduced odds (OR = 0.08, 95% CI: 0.02–0.34 of CHD as well as those with change of fat type (OR = 0.26, 95% CI: 0.11–0.60). Conclusions Children of parents with premature CHD have a significantly greater burden of CHD risk factors, with low HDL-C, in particular, being associated with an increased likelihood of being a child of a parent with premature CHD.
This text is related to the PhD dissertation entitled “Policy Institutional Assessment in Vocational Education Technological Literacy: Faculties of Technology Paula Souza Center, in Sao Paulo”. The study was based on the principles of qualitative research in education, and theoretical and methodological studies in the field of education policy and management; public policies and sociology of education (evaluation). The paper discusses institutional evaluation within the legal context, following LDB 9394/96 and complementary legislation. Thus, the objective of the study is to reflect on how the concept of evaluation, in its different forms and purposes, is considered by educational policies in legal acts, as well as to analyze appreciate the value given to evaluation in the context of the State Administrative Reform apparatus.
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