Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia

Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH). We determined by allele-specific PCR the frequency of microconversion in the CYP21A2 gene in 50 Brazilian patients with the classical (salt wasting: SW and simple virilizing: SV) forms and nonclassical (NC) form of CAH-21OH and correlated genotype with phenotype. Genotypes were classified into three mutation groups (A, B, and C) based on the amount of enzymatic activity in in vitro studies using adrenal cells. In 94 unrelated alleles, we diagnosed 76% of the affected alleles after screening for 7 microconversions. The most frequent point mutations observed in this series were I172N (19%), V281L (18%), and IVS2,A/C>G,-12 (15%). In the SW form, the most frequent mutation was IVS2,A/C>G,-12 (38%), in the SV form it was I172N (53%), and in the NC form it was V281L (57.7%). We observed a good correlation between genotype and phenotype. Discordance between genotype and phenotype was found in one SV patient with a mild mutation in one of the alleles (R356W/V281L). However, we cannot rule out the presence of an additional mutation in these alleles. We also observed a good correlation of genotype with 17alpha-hydroxyprogesterone, testosterone, and androstenedione levels. The severity of external genitalia virilization correlated with the severity of mutation. In conclusion, the frequencies described in the present study did not differ from worldwide studies, including the Brazilian population. The few differences observed may reflect individual sample variations. This new Brazilian cohort study suggests the presence of new mutations in Brazilian patients with different forms of CAH-21OH.

Estradiol and testosterone concentrations in follicular fluid as criteria to discriminate between mature and immature oocytes

The objective of the present study was to examine the association between follicular fluid (FF) steroid concentration and oocyte maturity and fertilization rates. Seventeen infertile patients were submitted to ovulation induction with urinary human follicle-stimulating hormone, human menopausal gonadotropin and human chorionic gonadotropin (hCG). A total of 107 follicles were aspirated after hCG administration, the oocytes were analyzed for maturity and 81 of them were incubated and inseminated in vitro. Progesterone, estradiol (E2), estrone, androstenedione, and testosterone were measured in the FF. E2 and testosterone levels were significantly higher in FF containing immature oocytes (median = 618.2 and 16 ng/ml, respectively) than in FF containing mature oocytes (median = 368 and 5.7 ng/ml, respectively; P < 0.05). Progesterone, androstenedione and estrone levels were not significantly different between mature and immature oocytes. The application of the receiver-operating characteristic curve statistical approach to determine the best cut-off point for the discrimination between mature and immature oocytes indicated levels of 505.8 ng/ml for E2 (81.0% sensitivity and 81.8% specificity) and of 10.4 ng/ml for testosterone (90.9% sensitivity and 82.4% specificity). Follicular diameter was associated negatively with E2 and testosterone levels in FF. There was a significant increase in progesterone/testosterone, progesterone/E2 and E2/testosterone ratios in FF containing mature oocytes, suggesting a reduction in conversion of C21 to C19, but not in aromatase activity. The overall fertility rate was 61% but there was no correlation between the steroid levels or their ratios and the fertilization rates. E2 and testosterone levels in FF may be used as a predictive parameter of oocyte maturity, but not for the in vitro fertilization rate.

Relationships between fetal body weight of Wistar rats at term and the extent of skeletal ossification

We investigated the relationship between fetal body weight at term (pregnancy day 21) and the extent of ossification of sternum, metacarpus, metatarsus, phalanges (proximal, medial and distal) of fore- and hindlimbs and cervical and coccygeal vertebrae in Wistar rats. The relationships between fetal body weight and sex, intrauterine position, uterine horn, horn size, and litter size were determined using historical control data (7594 fetuses; 769 litters) of untreated rats. Relationships between body weight and degree of ossification were examined in a subset of 1484 historical control fetuses (154 litters) which were subsequently cleared and stained with alizarin red S. Fetal weight was independent of horn size, uterine horn side (left or right) or intrauterine position. Males were heavier than females and fetal weight decreased with increasing litter size. Evaluation of the skeleton showed that ossification of sternum, metacarpus and metatarsus was extensively complete and independent of fetal weight on pregnancy day 21. In contrast, the extent of ossification of fore- and hindlimb phalanges and of cervical and sacrococcygeal vertebrae was dependent on fetal body weight. The strongest correlation between body weight and degree of ossification was found for hindlimb, medial and proximal phalanges. Our data therefore suggest that, in full-term rat fetuses (day 21), reduced ossification of sternum, metacarpus and metatarsus results from a localized impairment of bone calcification (i.e., a malformation or variation) rather than from general growth retardation and that ossification of hindlimb (medial and proximal) phalanges is a good indicator of treatment-induced fetal growth retardation.

Correlations between pulse oximetry and peak expiratory flow in acute asthma

Few studies are available concerning correlations between pulse oximetry and peak expiratory flow in children and adolescents with acute asthma. Although the Global Initiative for Asthma states that measurements of lung function and oximetry are critical for the assessment of patients, it is not clear if both methods should necessarily be included in their evaluation. Since there is a significant difference in cost between pulse oximetry equipment and peak expiratory flow devices, we determined whether clinical findings and peak expiratory flow measurements are sufficient to determine the severity of acute asthma. The present prospective observational study was carried out to determine if there is correlation between pulse oximetry and peak expiratory flow determination in 196 patients with acute asthma aged 4 to 15 years diagnosed according to the Global Initiative for Asthma criteria. Patients experiencing their first or second wheezing episode, with fever, related acute or chronic diseases, and unable to perform the peak expiratory flow maneuver were excluded. Measurements of peak expiratory flow and pulse oximetry were performed at admission and after 15 min of each inhaled salbutamol cycle. Correlations obtained by linear regression using the Pearson correlation coefficients (r) were 0.41 (P < 0.0001), 0.53 (P < 0.0001), 0.51 (P < 0.0001), and 0.61 (P < 0.0001) at admission and after the first, second and third cycles of salbutamol, respectively. These correlations showed that one measure cannot substitute the other (Pearson's coefficient <0.7), probably because they evaluate different aspects in the airways, suggesting that peak expiratory flow should not be used alone in the assessment of acute asthma in children and adolescents.

Association between dental-oral health in young adults and salivary glutathione, lipid peroxidation and sialic acid levels and carbonic anhydrase activity

The aim of the present study was to evaluate the relationship between salivary oxidative stress and dental-oral health. Healthy young adults, matched for gender and age, with (N = 21, 10 men, mean age: 20.3 ± 1 years) and without (N = 16, 8 men, mean age: 21.2 ± 1.8 years) caries were included in this study. The World Health Organization (WHO) caries diagnostic criteria were used for determining the decayed, missing, filled teeth (DMFT) index. The oral hygiene and gingival status were assessed using the simplified oral hygiene index and gingival index, respectively. Unstimulated salivary total protein, glutathione (GSH), lipid peroxidation and total sialic acid levels, carbonic anhydrase activity, and salivary buffering capacity were determined by standard methods. Furthermore, salivary pH was measured with pH paper and salivary flow rate was calculated. Simplified oral hygiene index and gingival index were not significantly different between groups but DMFT scores were significant (P < 0.01). Only, GSH values were significantly different (P < 0.05) between groups (2.2 and 1.6 mg/g protein in young adults without caries and with caries, respectively). There was a significant negative correlation between DMFT and GSH (r = -0.391; P < 0.05; Pearson's correlation coefficient). Our results suggest that there is an association between caries history and salivary GSH levels.

Association between apolipoprotein E genotype, serum lipids, and colorectal cancer in Brazilian individuals

We evaluated genetic variants of apolipoprotein E (APOE HhaI) and their association with serum lipids in colorectal cancer (CRC), together with eating habits and personal history. Eight-seven adults with CRC and 73 controls were studied. APOE*2 (rs7412) and APOE*4 (rs429358) were identified by polymerase chain reaction-restriction fragment length polymorphism. APOE gene polymorphisms were similar in both groups, but the ε4/ε4 genotype (6%) was present only in controls. The patients had reduced levels (mean ± SD) of total cholesterol and low-density lipoprotein cholesterol fraction (180.4 ± 49.5 and 116.1 ± 43.1 mg/dL, respectively) compared to controls (204.2 ± 55.6, P = 0.135 and 134.7 ± 50.8 mg/dL; P = 0.330, respectively) indicating that they were not statistically significant after the Bonferroni correction. The APOE*4 allele was associated with lower levels of total cholesterol, low- and high-density lipoprotein cholesterol fraction and increased levels of very low-density lipoprotein cholesterol fraction and triglycerides only among patients (P = 0.014). There was a positive correlation between the altered lipid profile and increased body mass indexes in both groups (P < 0.010). Moreover, a higher rate of hypertension and overweight was observed in controls (P < 0.002). In conclusion, the presence of the ε4/ε4 genotype only in controls may be due to a protective effect against CRC. Lower lipid profile values among patients, even those on lipid-rich diets associated with the APOE*4 allele, suggest alterations in the lipid synthesis and metabolism pathways in CRC.

Cellular and molecular studies of the effects of a selective COX-2 inhibitor celecoxib in the cardiac cell line H9c2 and their correlation with death mechanisms

Cardiovascular disease is one of the leading causes of death worldwide, and evidence indicates a correlation between the inflammatory process and cardiac dysfunction. Selective inhibitors of cyclooxygenase-2 (COX-2) enzyme are not recommended for long-term use because of potentially severe side effects to the heart. Considering this and the frequent prescribing of commercial celecoxib, the present study analyzed cellular and molecular effects of 1 and 10 µM celecoxib in a cell culture model. After a 24-h incubation, celecoxib reduced cell viability in a dose-dependent manner as also demonstrated in MTT assays. Furthermore, reverse transcription-polymerase chain reaction analysis showed that the drug modulated the expression level of genes related to death pathways, and Western blot analyses demonstrated a modulatory effect of the drug on COX-2 protein levels in cardiac cells. In addition, the results demonstrated a downregulation of prostaglandin E2 production by the cardiac cells incubated with celecoxib, in a dose-specific manner. These results are consistent with the decrease in cell viability and the presence of necrotic processes shown by Fourier transform infrared analysis, suggesting a direct correlation of prostanoids in cellular homeostasis and survival.

Relationship between the price of fish and its quality attributes: a study within a community at the University of São Paulo, Brazil

The aim of this study was to evaluate the associations between the products' market price and attributes related to fish purchase and consumption within a university community in Brazil. A structured questionnaire consisting of a five-point Likert scale was used. It was previously tested and made available to the university community via the Internet. The sample comprised 1966 voluntaries including university students and faculty and staff members. A descriptive analysis of data was performed using Spearman's correlation analysis. The results showed that the majority of the respondents (56%) consume fish at home; some consume fish at restaurants (39%), and 5% at family or friends' houses, reinforcing the idea that variables such as culture and reference groups are fundamental determinants of purchase and consumption behavior. It was identified a significant (p < 0.001) and very strong correlation between the attributes price and nutritional value (r = 0.92); price and availability at the usual places of purchase (r = 0.92); price and packaging (r = 0.92); price and brand name (r = 0.91); and price and of the Federal Inspection stamp (r = 0.91) and a low positive correlation (p < 0.001) between the price variable and the initiative for fish traceability (r = 0.16). This study demonstrated that the price of fish is associated with the quality of the product and the attributes related to it such as packaging, nutritional value, and availability of the product in the market.

Selenium plasma levels in hemodialysis patients: Comparison between North and Southeast of Brazil

Introduction: Patients with chronic kidney disease present selenium (Se) plasma deficiency which is an essential trace element with important biological functions and, the best known biological role is attributed to its presence in the antioxidant enzyme, glutathione peroxidase (GPx). The Se content of foods depends on soil and some authors have suggested that Amazon soil (North Brazilian region) has high Se concentrations when compared to other regions of Brazil. Objective: The objective of this work was to compare the Se status in hemodialysis (HD) patients from North and Southeast of Brazil. Methods: Thirty-eight patients from Southeast region (22 men and 16 women, 15% diabetic, 53.5 ± 26.4 yrs) were compared to 40 patients from North region (28 men and 12 women, 22.5% diabetic, 63.5 ± 11.9 yrs). Se in plasma was determined through atomic absorption spectrophotometry with hydride generation. Results: The plasma Se levels in patients from Southeast region were significantly lower (17.5 ± 11.9 μg/L) when compared to patients from the North (37.1 ± 15.8 μg/L) (p < 0.001). However, both patient groups presented low Se plasma levels when compared to recommended values (60- 120 μg/L). There was no correlation between plasma Se levels and analyzed parameters. Conclusion: We concluded that patients from North (Amazon) region present higher plasma Se levels when compared to the patients from Southeast of Brazil. However, independently of the region, HD patients presented Se deficiency.

Perception of privacy in smartphone applications: profiling users based on personality types.

This document is focused on studying privacy perception and personality traits of users in the context of smartphone application privacy. It is divided into two parts. The first part presents an in depth systematic literature review of the existing academic writings available on the topic of relation between privacy perception and personality traits. Demographics, methodologies and other useful insight is extracted and the available literature is divided into broader group of topics bringing the five main areas of research to light and highlighting the current research trends in the field along with pinpointing the research gap of interest to the author. The second part of the thesis uses the results from the literature review to administer an empirical study to investigate the current privacy perception of users and the correlation between personality traits and privacy perception in smartphone applications. Big five personality test is used as the measure for personality traits whereas three sub-variables are used to measure privacy perception i.e. perceived privacy awareness, perceived threat to privacy and willingness to trade privacy. According to the study openness to experience is the most dominant trait having a strong correlation with two privacy sub-variables whereas emotional stability doesn’t show any correlation with privacy perception. Empirical study also explores other findings as preferred privacy sources and application installation preferences that provide further insight about users and might be useful in future.

Personality traits and personal values : an investigation into the importance of each in the prediction of behaviour /

Personality traits and personal values are two important domains of individual differences. Traits are enduring and distinguishable patterns of behaviour whereas values are societally taught, stable, individual preferences that guide behaviour in order to reach a specific end state. The purpose of the present study was to investigate the relations between self and peer report within the domains of personality traits and values, to examine the correlations between values and traits, and to explore the amount of incremental validity of traits and values in predicting behaviour. Two hundred and fiftytwo men and women from a university setting completed self and peer reports on three questionnaires. In order to assess personality traits, the HEXACO-PI (Lee & Ashton, 2004) was used to identify levels of 6 major dimensions of personality in participants. To assess values, the Schwartz Value Survey (Schwartz, 1992) was used to identify the importance each participant placed on each of Schwartz's 10 value types. To measure behaviour, a Behavior Scale, created by Bardi and Schwartz (2003), consisting of items designed to measure the frequency of value-expressive behaviour was used. As expected, correlations between self and peer reports for the personality scales were high indicating that personality traits are easily observable to other people. Correlations between self and peer reports for the values and behaviour scales were only moderate, suggesting that some goals, and behaviours expressive of those goals, may not always be observable to others. Consistent with previous research, there were many strong correlations between traits and values. In addition to the similarities with past research, the present study found that the personality factor Honesty-Humility was correlated strongly with values scales (with five correlations exceeding .25). In the prediction of behaviour, it was found that both personahty and values were able to account for significant and similar amounts of variance. Personality outpredicted values for some behaviours, but the opposite was true of other behaviours. Each domain provided incremental validity beyond the other domain. The impUcations for these findings, along with limitations, and possibilities for future research are also discussed.

An analysis of the relationship between self-efficacy and performance in a continuous gymnastic routine

Research has shown a consistent correlation between efficacy and sport performance (Moritz, et aI., 2000). This relationship has been shown to be dynamic and reciprocal over seasons (e.g., Myers, Payment, et aI., 2004), within games (e.g., Butt, et aI., 2003), and across trials (e.g., Feltz, 1982). The purpose of the present study was to examine selfefficacy and performance simultaneously within one continuous routine. Forty-seven undergraduate students performed a gymnastic sequence while using an efficacy measure. Results indicated that the efficacy-performance relationship was not reciprocal; previous performance was a significant predictor of subsequent performance (p < .01; f3s ranged from .44 to .67). Results further revealed significant differences in efficacy beliefs between groups with high and low levels of performance [F (1,571) = 7.16,p < .01]. Findings suggest that high levels of performance within a continuous physical activity task result in higher performance scores and higher efficacy beliefs.

Correlation of Protein Homeostasis With Maximum Lifespans in Endothermic Vertebrates

Cellular stress resistance has been shown to be highly correlated with longevity. However, the mechanisms conferring this stress resistance have yet to be identified. Maintenance of protein homeostasis is a critical component of cellular maintenance and stress resistance. Superior protein homeostasis capacities may thus underlie the greater stress resistance observed in longer-lived animals; however, little vertebrate data have been provided supporting this idea. I used two different experimental approaches to test the associations of protein homeostasis capacities with stress resistance and lifespan: 1) a comparison between a large set of vertebrate species with varying body masses and lifespans and 2) a comparison of long-lived Snell dwarf mice and their normal littermates. Protein homeostasis mechanisms including protein degradation activity, protein repair activity and molecular chaperone levels were examined. These measurements were performed in liver, heart and brain tissues, and isolated myoblasts. My results indicated that neither protein degradation nor protein repair were upregulated in association with enhanced stress resistance and longevity in an inter-species and intraspecies context. Furthermore, my results did show that there is a positive correlation between molecular chaperone levels and maximum lifespan (MLSP). However, there was no elevation of chaperone levels in the long-lived Snell dwarf mouse, indicating there are other mechanisms linked to their increased lifespan. Therefore, these results suggest that molecular chaperones are involved in increasing animal lifespan in an interspecies context.

Correlation Among Math Anxiety, Attitudes Toward Math, and Math Achievement in Grade 9 Students: Relationships Across Gender

This research evaluated (a) the correlation between math anxiety, math attitudes, and achievement in math and (b) comparison among these variables in terms of gender among grade 9 students in a high school located in southern Ontario. Data were compiled from participant responses to the Attitudes Toward Math Inventory (ATMI) and the Math Anxiety Rating Scale for Adolescents (MARS-A), and achievement data were gathered from participants’ grade 9 academic math course marks and the EQAO Grade 9 Assessment of Mathematics. Nonparametric tests were conducted to determine whether there were relationships between the variables and to explore whether gender differences in anxiety, attitudes, and achievement existed for this sample. Results indicated that math anxiety was not related to math achievement but was a strong correlate of attitudes toward math. A strong positive relationship was found between math attitudes and achievement in math. Specifically, self-confidence in math, enjoyment of math, value of math, and motivation were all positive correlates of achievement in math. Also, results for gender comparisons were nonsignificant, indicating that gender differences in math anxiety, math attitudes, and math achievement scores were not prevalent in this group of grade 9 students. Therefore, attitudes toward math were considered to be a stronger predictor of performance than math anxiety or gender for this group.

Players and Avatars: The Connections between Player Personality, Avatar Personality, and Behavior in Video Games

The increasing variety and complexity of video games allows players to choose how to behave and represent themselves within these virtual environments. The focus of this dissertation was to examine the connections between the personality traits (specifically, HEXACO traits and psychopathic traits) of video game players and player-created and controlled game-characters (i.e., avatars), and the link between traits and behavior in video games. In Study 1 (n = 198), the connections between player personality traits and behavior in a Massively Multiplayer Online Roleplaying Game (World of Warcraft) were examined. Six behavior components were found (i.e., Player-versus-Player, Social Player-versus-Environment, Working, Helping, Immersion, and Core Content), and each was related to relevant personality traits. For example, Player-versus-Player behaviors were negatively related to Honesty-Humility and positively related to psychopathic traits, and Immersion behaviors (i.e., exploring, role-playing) were positively related to Openness to Experience. In Study 2 (n = 219), the connections between player personality traits and in-game behavior in video games were examined in university students. Four behavior components were found (i.e., Aggressing, Winning, Creating, and Helping), and each was related to at least one personality trait. For example, Aggressing was negatively related to Honesty-Humility and positively related to psychopathic traits. In Study 3 (n = 90), the connections between player personality traits and avatar personality traits were examined in World of Warcraft. Positive player-avatar correlations were observed for all personality traits except Extraversion. Significant mean differences between players and avatars were observed for all traits except Conscientiousness; avatars had higher mean scores on Extraversion and psychopathic traits, but lower mean scores on the remaining traits. In Study 4, the connections between player personality traits, avatar traits, and observed behaviors in a life-simulation video game (The Sims 3) were examined in university students (n = 93). Participants created two avatars and used these avatars to play The Sims 3. Results showed that the selection of certain avatar traits was related to relevant player personality traits (e.g., participants who chose the Friendly avatar trait were higher in Honesty-Humility, Emotionality, and Agreeableness, and lower in psychopathic traits). Selection of certain character-interaction behaviors was related to relevant player personality traits (e.g., participants with higher levels of psychopathic traits used more Mean and fewer Friendly interactions). Together, the results of the four studies suggest that individuals generally behave and represent themselves in video games in ways that are consistent with their real-world tendencies.