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AIMS: This study assessed the impact of depression on mortality and quality of life of patients with kidney disease. MATERIAL: This study was conducted at Hospital Sao Lucas of Pontificia Universidade Católica of Rio Grande do Sul, Porto Alegre, Brazil, with a cohort of 125 patients seen from 1996 to 2004. (mean follow-up = 77.6 months). Patients undergoing renal replacement therapy were asked to fill in the Beck Depression Inventory (BDI). At the completion of follow-up, 72 patients were alive, and 56 answered the BDI and the Medical Outcome Study Short Form General Health Survey (SF-36) to assess quality of life. Main outcome measures were mortality and quality of life. RESULTS: Initial analysis showed that mortality was associated with age, treatment modality--continuous ambulatory peritoneal dialysis (CAPD) or hemodialysis (hd)--and depression. When controlling for age, gender, depression, and treatment modality in a multiple regression analysis, transplantation (tx), gender and age was associated with lower mortality. However, levels of depression at the end of follow-up were strongly associated with quality of life. CONCLUSIONS: Depression was not associated with mortality of patients with kidney disease when controlling for gender, age, and treatment modality. Transplantation was the main factor associated with lower mortality. Depression was, however, a strong predictor of quality of life. Number of depressive symptoms was directly associated with lower quality of life in most of the items of the SF-36. [ABSTRACT FROM AUTHOR]

Background: The COVID-19 pandemic overwhelmed health facilities and presented healthcare workers (HCWs) with a new infectious disease threat. In addition to a sanitary crisis, Brazil still had to face major political, economic, and social challenges. This study aimed to investigate mental health outcomes in frontline HCWs in different regions of the country and at different epidemic times. We also sought to identify the main risk factors associated with these outcomes., Methods: A cross-sectional online survey using respondent-driven sampling was conducted to recruit physicians (n = 584), nurses (n = 997), and nurse technicians (n = 524) in 4 regions of Brazil (North, Northeast, Southeast, and South) from August 2020 to July 2021. We used standardized instruments to screen for common mental disorders (CMD)(SRQ-20), alcohol misuse (AUDIT-C), depression (PHQ-9), anxiety (GAD-7), and post-traumatic stress disorder (PTSD)(PCL-5). Gile's successive sampling estimator was used to produce weighted estimates. We created a three-cluster data set for each HCW category and developed a hierarchical regression model with three levels: individual characteristics; workplace-related aspects; COVID-19 personal experience. The impact of the epidemic moment on the outcomes was also studied., Results: The prevalence of probable CMD was 26.8-36.9%, alcohol misuse 8.7-13.6%, depression 16.4-21.2%, anxiety 10.8-14.2%, and PTSD 5.9-8.0%. We found a stronger association between mental health outcomes and the following factors: history of psychiatric disorders, female gender, and clinical comorbidities (level 1); work overload and family isolation (level 2); sick leave (level 3). Epidemic variables, such as the number of deaths and trend of deaths by COVID-19, had almost no impact on the outcomes., Conclusion: An alarmingly high prevalence of depression and anxiety was found in Brazilian frontline HCWs. Individual factors were the most strongly associated with mental health outcomes. These findings indicate the need to develop programs that provide emotional support, identify professionals at risk and refer them to specialized treatment when necessary., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

Background: The COVID-19 pandemic had a major impact on the mental health of healthcare workers (HCWs), especially in low and middle-income countries, which had to face additional political, social, and economic challenges. We thus aimed to assess the prevalence of mental health outcomes and the associated factors in HCWs treating COVID-19 patients in one of the most affected regions in Brazil., Methods: We used the Respondent-Driven Sampling method to assess the risks of COVID-19 infection and symptoms of mental disorders in nurses, nursing technicians, and physicians who worked on the frontline in the metropolitan region of Recife. 865 healthcare workers completed a survey regarding sociodemographic data, work-related risks, and symptoms of mental disorders - SRQ-20 for common mental disorders (CMD); AUDIT-C for problematic alcohol use; GAD-7 for anxiety; PHQ-9 for depression; PCL-5 for post-traumatic stress disorder (PTSD). Gile's successive sampling estimator was used to produce the weighted estimates by professional category. A Poisson regression model with robust variance was used to analyze factors associated with a positive screening for CMD. We will present the results of a cross-sectional analysis of the mental health outcomes after the first peak of COVID-19 - from August 2020 to February 2021., Results: The prevalence ratios for a positive screening for CMD were 34.9% (95% CI: 27.8-41.9) in nurses, 28.6% (95% CI: 21.3-36.0) in physicians, and 26.6% (95% CI: 16.8-36.5) in nursing technicians. Nurses presented a higher prevalence of depressive symptoms (23%). Positive screening for problematic alcohol use (10.5 to14.0%), anxiety (10.4 to 13.3%), and PTSD (3.3 to 4.4%) were similar between the professional categories. The main factors associated with CMD in nurses and physicians were related to an intrinsic susceptibility to mental illness, such as previous or family history of psychiatric disorder, and female sex. Among nurse technicians, work-related factors, such as accidents with biological material, presented the strongest association with CMD., Conclusion: The mental health of HCWs fighting COVID-19 in Recife was severely affected. It is crucial that healthcare services provide adequate working conditions and psychological support, investing in programs to promote and protect HCWs mental health., (© 2023. The Author(s).)

Background: Forty percent of individuals globally meet Rome IV criteria for a disorder of gut-brain interaction (DGBI). The global burden of pain across these disorders has not been characterized., Methods: Our study included 54,127 respondents from the 26 Internet survey countries. Prescription pain medication usage was selected as the proxy for pain. The associations between prescription pain medications and the environmental, sociodemographic, psychosocial, and DGBI diagnosis variables were investigated using the multivariate generalized robust Poisson regression model., Key Results: Respondents with DGBI used prescription pain medications at higher rates than those without a DGBI diagnosis with pooled prevalence rate of 14.8% (95% confidence interval [CI], 14.4-15.3%), varying by country from 6.8% to 25.7%. The pooled prevalence ratio of prescription pain medication usage in respondents with and without DGBI was 2.2 (95% CI: 2.1-2.4). Factors associated with higher prevalence of pain medication usage among respondents with a DGBI diagnosis included living in a small community, increased anxiety, depression or somatization, increased stress concern or embarrassment about bowel functioning and having more than one anatomic DGBI diagnosis., Conclusion: 14.8% of patients globally with at least one diagnosis of DGBI were on prescription pain medications with wide geographic variation, about twice as many as their counterparts without a diagnosis of DGBI. Environmental, sociodemographic, and individual factors may influence clinicians to consider personalized, multimodal approaches to address pain in patients with DGBI., (© 2022 The Authors. Neurogastroenterology & Motility published by John Wiley & Sons Ltd.)

Background: Developing countries have experienced significant COVID-19 disease burden. With the emergence of new variants, particularly omicron, the disease burden in children has increased. When the first COVID-19 vaccine was approved for use in children aged 5-11 years of age, very few countries recommended vaccination due to limited risk-benefit evidence for vaccination of this population. In Brazil, ranking second in the global COVID-19 death toll, the childhood COVID-19 disease burden increased significantly in early 2022. This prompted a risk-benefit assessment of the introduction and scaling-up of COVID-19 vaccination of children., Methods: To estimate the potential impact of vaccinating children aged 5-11 years with mRNA-based COVID-19 vaccine in the context of omicron dominance, we developed a discrete-time SEIR-like model stratified in age groups, considering a three-month time horizon. We considered three scenarios: No vaccination, slow, and maximum vaccination paces. In each scenario, we estimated the potential reduction in total COVID-19 cases, hospitalizations, deaths, hospitalization costs, and potential years of life lost, considering the absence of vaccination as the base-case scenario., Findings: We estimated that vaccinating at a maximum pace could prevent, between mid-January and April 2022, about 26,000 COVID-19 hospitalizations, and 4200 deaths in all age groups; of which 5400 hospitalizations and 410 deaths in children aged 5-11 years. Continuing vaccination at a slow/current pace would prevent 1450 deaths and 9700 COVID-19 hospitalizations in all age groups in this same time period; of which 180 deaths and 2390 hospitalizations in children only., Interpretation: Maximum vaccination of children results in a significant reduction of COVID-19 hospitalizations and deaths and should be enforced in developing countries with significant disease incidence in children., Funding: This manuscript was funded by the Brazilian Council for Scientific and Technology Development (CNPq - Process # 402834/2020-8)., Competing Interests: MEB received payment fees for consulting service for work on database management in the municipality of Florianópolis, funded by 10.13039/100011893PAHO/10.13039/100004423WHO (contract number CON21-00014067). All authors declare no conflict of interest., (© 2022 The Author(s).)

We simulate the impact of school reopening during the COVID-19 pandemic in three major urban centers in Brazil to identify the epidemiological indicators and the best timing for the return of in-school activities and the effect of contact tracing as a mitigation measure. Our goal is to offer guidelines for evidence-based policymaking. We implement an extended SEIR model stratified by age and considering contact networks in different settings - school, home, work, and community, in which the infection transmission rate is affected by various intervention measures. After fitting epidemiological and demographic data, we simulate scenarios with increasing school transmission due to school reopening, and also estimate the number of hospitalization and deaths averted by the implementation of contact tracing. Reopening schools results in a non-linear increase in reported COVID-19 cases and deaths, which is highly dependent on infection and disease incidence at the time of reopening. When contact tracing and quarantining are restricted to school and home settings, a large number of daily tests is required to produce significant effects in reducing the total number of hospitalizations and deaths. Policymakers should carefully consider the epidemiological context and timing regarding the implementation of school closure and return of in-person school activities. While contact tracing strategies prevent new infections within school environments, they alone are not sufficient to avoid significant impacts on community transmission., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2022 Published by Elsevier Inc.)

Introduction: Brazil experienced moments of collapse in its health system throughout 2021, driven by the emergence of variants of concern (VOC) combined with an inefficient initial vaccination strategy against Covid-19., Objectives: To support decision-makers in formulating COVID-19 immunization policy in the context of limited vaccine availability and evolving variants over time, we evaluate optimal strategies for Covid-19 vaccination in Brazil in 2021, when vaccination was rolled out during Gamma variant predominance., Methods: Using a discrete-time epidemic model we estimate Covid-19 deaths averted, considering the currently Covid-19 vaccine products and doses available in Brazil; vaccine coverage by target population; and vaccine effectiveness estimates. We evaluated a 5-month time horizon, from early August to the end of December 2021. Optimal vaccination strategies compared the outcomes in terms of averted deaths when varying dose intervals from 8 to 12 weeks, and choosing the minimum coverage levels per age group required prior to expanding vaccination to younger target populations. We also estimated dose availability required over time to allow the implementation of optimal strategies., Results: To maximize the number of averted deaths, vaccine coverage of at least 80 % should be reached in older age groups before starting vaccination into subsequent younger age groups. When evaluating varying dose intervals for AZD1222, reducing the dose interval from 12 to 8 weeks for the primary schedule would result in fewer COVID-19 deaths, but this can only be implemented if accompanied by an increase in vaccine supply of at least 50 % over the coming six-months in Brazil., Conclusion: Covid-19 immunization strategies should be tailored to local vaccine product availability and supply over time, circulating variants of concern, and vaccine coverage in target population groups. Modelling can provide valuable and timely evidence to support the implementation of vaccination strategies considering the local context, yet following international and regional technical evidence-based guidance., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2022 Elsevier Ltd. All rights reserved.)

Objective: This study evaluated the association between diet quality, assessed by the Diet Quality Index for Adolescents adapted for Brazilians (DQIA-BR), and cardiometabolic markers in adolescents., Methods: The DQIA-BR and cardiometabolic markers were assessed in 36 956 Brazilian adolescents (12-17 y old) enrolled in the Study of Cardiovascular Risks in Adolescents (ERICA), a national school-based cross-sectional multicenter study in Brazil. For analyses, the sample was stratified by sex and nutritional status. Multiple linear regressions were used to investigate the association between DQIA-BR and cardiometabolic markers (total cholesterol, HDL-c, LDL-c, triglycerides, fasting glucose and HOMA-IR). Adjusted models were constructed with two input levels of covariates. The first model was adjusted for sex, age, and socioeconomic status; in the second model, total energy intake, physical activity, and sedentary behavior were included., Results: A higher DQIA-BR score was associated with a better cardiometabolic profile in girls with normal weight; however, no association was observed in those with overweight/obesity. In boys with overweight/obesity, a better quality of diet was associated with lower concentrations of total cholesterol (β = -0.338, 95% confidence interval [CI]: -0.611 to -0.066) and LDL-c (β = -0.227, 95% CI: -0.448 to -0.005), but only LDL-c remained significant in those with normal weight (β = -0.115, 95% CI: -0.224 to 0.005)., Conclusion: The effects of diet quality on cardiometabolic risk factors differ according to sex and the presence of overweight/obesity. Overall, DQIA-BR is a suitable tool to evaluate the association between diet quality and cardiometabolic markers in normal-weight adolescents, but not for adolescents, especially girls, with overweight/obesity., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Purpose: This study aimed to assess the dietary patterns of adolescents using a food-based diet quality index and their compliance with a healthy dietary guideline METHODS: Participants included 71,553 Brazilian adolescents (12-17 years old) from the Study of Cardiovascular Risks in Adolescents (ERICA), a cross-sectional school-based multicenter study.. Dietary intake was measured by one 24-h recall. A second recall was collected in a random subsample (~ 10%) to correct within-person variability. The Diet Quality Index for Adolescents adapted for Brazilians (DQIA-BR) was used to measure the overall quality of the dietary intake. The National Cancer Institute method was applied to estimate usual dietary intake. The DQIA-BR and the distribution of its components (quality, diversity, and equilibrium) were analyzed according to sex, geographical area, and type of school RESULTS: The mean (SD) DQIA-BR scores were 14.8% (6.1%) for females and 19.0% (6.3%) for males. All analyzed strata revealed low scores of DQIA-BR and its components. The median usual intake was five to sevenfold below the recommendations for vegetables and fruits and approximately twofold below the recommendations for dairy. The highest DQIA-BR mean scores were found in the northern region [17.0% (6.4%), females; 20.7% (6.3%), males]. Adolescents in both types of schools had relatively similar median intakes of snacks (~ 85 g) and sugared drinks (~ 600 ml) CONCLUSIONS: The overall diet quality of Brazilian adolescents is inadequate based on evaluated parameters in all regions and socioeconomic backgrounds.

Although digital photos have the potential to improve the precision of reported portions in dietary assessment, there are few studies investigating its accuracy in comparison to printed photos. The aim of this study was to evaluate the perception of adults in quantifying food portion sizes using printed and digital photos, displayed on computer-screens and tablets. In total, 1165 evaluations were performed for 60 photos of portion sizes in Brazil. Each participant ( n = 58) attended two sessions in the study center, with an interval of at least one week. In each session, twelve food portions were prepared and randomly evaluated by each participant in its printed and digital forms. The mean error (difference between the estimated and true portions) was not significantly different between the printed photos (2.1 g ± 47.2) and the digital ones (-6.4 g ± 53.7). The agreement on using the printed and digital photos was 91% and 90%, respectively. Furthermore, the use of the tablet was more prone to underestimation when compared to printed and computer-screen photos ( p < 0.001). Overall, participants did not present major difficulties in perceiving the portion sizes using the printed and digital photos, but the use of tablets led to less accurate results, indicating that this needs to be further evaluated.

Breast cancer (BC) risk assessment models base their estimations on different aspects of a woman's personal and familial history. The Gail and Tyrer-Cuzick models are the most commonly used, and BC risks assigned by them vary considerably especially concerning familial history. In this study, our aim was to compare the Gail and Tyrer-Cuzick models after initial screening for familial history of cancer in primary care using the FHS-7 questionnaire. We compared 846 unrelated women with at least one positive answer to any of the seven FHS-7 questions (positive group) and 892 unrelated women that answered negatively (negative group). Concordance between BC risk estimates was compared by Bland-Altman graphics. Mean BC risk estimates were higher using the Tyrer-Cuzick Model in women from the positive group, while women from the negative group had higher BC risk estimates using the Gail model. With increasing estimates, discordance also increased, mainly in the FHS-7 positive group. Our results show that in women with a familial history of cancer, the Gail model underestimates risk and the Tyrer-Cuzick seems to be more appropriate. FHS-7 can be a useful tool for the identification of women with higher breast cancer risks in the primary care setting.

Background and Purpose: In spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the length of CAG repeat expansions in ATXN3 shows an inverse correlation with age at onset (AO). Recently, a formula for predicting AO based on CAG expansion was developed for European carriers. We tested this formula in SCA3/MJD carriers from distinct origins and developed population-specific models to predict AO., Methods: This was a parametric survival modelling study., Results: The European formula (EF) was tested in 739 independent SCA3/MJD carriers from South Brazil, Taiwan and the Portuguese Azorean islands, and it largely underestimated AO in South Brazilian and Taiwanese test cohorts. This finding challenged the universal use of the EF, leading us to develop and validate population-specific models for AO prediction. Using validation cohorts, we showed that Brazilian and Taiwanese formulas largely outperformed the EF in a population-specific manner. Inversely, the EF was more accurate at predicting AO among Portuguese Azorean patients. Hence, specific prediction models were required for each SCA3/MJD ethnic group., Conclusions: Our data strongly support the existence of as yet unknown factors that modulate AO in SCA3/MJD in a population-dependent manner, independent of CAG expansion length. The generated models are made available to the scientific community as they can be useful for future studies on SCA3/MJD carriers from distinct geographical origins., (© 2018 EAN.)

Objectives: To assess the measurement equivalence of the original paper version of an adapted tablet version of the EuroQol five-dimensional questionnaire (EQ-5D)., Methods: A randomly selected sample of 509 individuals aged 18 to 64 years from the general population responded to the EQ-5D at two time points separated by a minimum interval of 24 hours and were allocated to one of the following groups: test-retest group (tablet-tablet) or crossover group (paper-tablet and tablet-paper). Agreement between methods was determined using the intraclass correlation coefficient (ICC) and the κ coefficient., Results: In the crossover group, the following ICC values were obtained: 0.76 (confidence interval [CI] 0.58-0.89) for EQ-5D scores and 0.77 (CI 0.68-0.84) for visual analogue scale in subjects responding first to the tablet version; 0.83 (CI 0.75-0.89) for EQ-5D scores and 0.75 (CI 0.67-0.85) for visual analogue scale in subjects responding first to the paper version. In the test-retest group, the ICC was 0.85 (CI 0.73-0.91) for EQ-5D scores and 0.79 (CI 0.66-0.87) for visual analogue scale. The κ values were higher than 0.69 in this group. The internal consistencies of the paper and tablet methods were similar., Conclusions: The paper and tablet versions of the EQ-5D are equivalent. Test-retest and crossover agreement was high and the acceptability of the methods was similar among individuals., (Copyright © 2018 International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Published by Elsevier Inc. All rights reserved.)

Background: Spinocerebellar ataxia type 2 (SCA2) affects several neurological structures, giving rise to multiple symptoms. However, only the natural history of ataxia is well known, as measured during the study duration. We aimed to describe the progression rate of ataxia, by the Scale for the Assessment and Rating of Ataxia (SARA), as well as the progression rate of the overall neurological picture, by the Neurological Examination Score for Spinocerebellar Ataxias (NESSCA), and not only during the study duration but also in a disease duration model. Comparisons between these models might allow us to explore whether progression is linear during the disease duration in SCA2; and to look for potential modifiers., Results: Eighty-eight evaluations were prospectively done on 49 symptomatic subjects; on average (SD), study duration and disease duration models covered 13 (2.16) months and 14 (6.66) years of individuals' life, respectively. SARA progressed 1.75 (CI 95%: 0.92-2.57) versus 0.79 (95% CI 0.45 to 1.14) points/year in the study duration and disease duration models. NESSCA progressed 1.45 (CI 95%: 0.74-2.16) versus 0.41 (95% CI 0.24 to 0.59) points/year in the same models. In order to explain these discrepancies, the progression rates of the study duration model were plotted against disease duration. Then an acceleration was detected after 10 years of disease duration: SARA scores progressed 0.35 before and 2.45 points/year after this deadline (p = 0.013). Age at onset, mutation severity, and presence of amyotrophy, parkinsonism, dystonic manifestations and cognitive decline at baseline did not influence the rate of disease progression., Conclusions: NESSCA and SARA progression rates were not constant during disease duration in SCA2: early phases of disease were associated with slower progressions. Modelling of future clinical trials on SCA2 should take this phenomenon into account, since disease duration might impact on inclusion criteria, sample size, and study duration. Our database is available online and accessible to future studies aimed to compare the present data with other cohorts.

Since polyglutamine diseases have been related to a reduced risk of cancer, we aimed to study the 15 years cumulative incidence of cancer (CIC) (arm 1) and the proportion of cancer as a cause of death (arm 2) in symptomatic carriers of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD). SCA3/MJD and control individuals from our state were invited to participate. A structured interview was performed. CIC as published by the Brazilian National Institute of Cancer, was used as populational control. Causes of death were obtained from the Public Information System on Mortality. We interviewed 154 SCA3/MJD patients and 80 unrelated controls: CIC was 7/154 (4.5%) and 5/80 (6.3%), respectively. The interim analysis for futility showed that the number of individuals required to detect a significant difference between groups (1938) would be three times larger than the existing local SCA3/MJD population (625), for an absolute risk reduction of 1.8%. Then this study arm was discontinued due to lack of power. In the same period, cancer was a cause of death in 9/101 (8.9%) SCA3/MJD and in 52/202 (26.2%) controls, with an absolute reduction risk of 17.3% (OR 0.27, 95%CI 0.13 to 0.58, p = 0.01). A significant reduction of cancer as cause of death was observed in SCA3/MJD, suggesting a common effect to all polyglutamine diseases., (Copyright © 2017. Published by Elsevier Inc.)

User satisfaction is known to be related to quality of healthcare. The aim of this study was to evaluate the influence of contextual and individual factors associated with user dissatisfaction with the Brazilian Unified National Health System (SUS). This was a cross-sectional multilevel study. Data were collected via telephone by the ombudsman's office of the SUS. Telephone numbers were randomly selected from a telephone company database. Health services, socioeconomic, and individual demographic variables were evaluated, in addition to information on the municipalities. The outcome variable was dissatisfaction with the SUS. Hierarchical multilevel logistic regression was used, and 18,673 individuals were contacted. Prevalence of dissatisfaction was 63.4% (95%CI: 62.7-64.1). Unmet demand (OR = 3.66), waiting time > 4 hours (OR = 2.82), and number of Primary Healthcare Units (OR = 0.89) were associated statistically with dissatisfaction. Characteristics of the health teams' work process showed a strong association with dissatisfaction.

Various methods are available for estimating usual dietary intake distributions. Hence, there is a need for simulation studies to compare them. The methods Iowa State University (ISU), National Cancer Institute (NCI), Multiple Source Method (MSM) and Statistical Program to Assess Dietary Exposure (SPADE) were previously compared in another study, but some results were inconclusive due to the small number of replications used in the simulation. Seeking to overcome this limitation, the present study used 1000 simulated samples for 12 different scenarios to compare the accuracy of estimates yielded by the aforementioned methods. The focus is on scenarios that exhibited the most uncertainty in the conclusions of the mentioned study above, i.e., scenarios with small sample sizes, skewed intake distributions, and large ratios of the between- and within-person variances. Bias was used as a measure of accuracy. For scenarios with small sample sizes (n = 150), the ISU, MSM and SPADE methods generally achieved more accurate estimates than the NCI method, particularly for the 10th and 90th percentiles. The differences between methods became smaller with larger sample sizes (n = 300 and n = 500). With few exceptions, the methods were found to perform similarly.

Background/objectives: Because studies have evidenced variations in nutrient intake, further investigation of the interaction between demographic characteristics and the seasons is necessary. We aimed to test the differences in food intake throughout the seasons and the interaction between the seasons and sex and age., Subjects/methods: This study included 273 individuals. Food intake was evaluated with 24-hour dietary recalls, and the reported food items were sorted into food groups. We performed the test on the differences in intake of food groups throughout the seasons with repeated measures and on the interaction effect by using the Generalized Estimate Equation., Results: Intake of fruits and natural fruit juices and sweetened beverages was lower, whereas that of grains and derivatives was higher in the winter. The intake of leafy vegetables and fish and seafood was lower in the autumn. The consumption of coffee and eggs was higher in the spring. Intake of chocolate powder and sugar, salt and lean poultry was higher in the winter. The variation in consumption of grains and derivatives, eggs, fatty poultry and processed meat over the seasons was more likely to be modified by sex. Age interacted with the seasons for leafy vegetables, beans and lentils, lean beef, lean poultry, low fat milk and light yogurt, vegetable oil and unsalted margarine, chocolate powder and sugar and processed meat., Conclusions: This study shows that food intake may change seasonally and that seasonal variation depends on sex and age, which might aggregate a specific co-variation component.

Background: Disadvantages have already been pointed out on the use of odds ratio (OR) as a measure of association for designs such as cohort and cross sectional studies, for which relative risk (RR) or prevalence ratio (PR) are preferable. The model that directly estimates RR or PR and correctly specifies the distribution of the outcome as binomial is the log-binomial model, however, convergence problems occur very often. Robust Poisson regression also estimates these measures but it can produce probabilities greater than 1., Results: In this paper, the use of Bayesian approach to solve the problem of convergence of the log-binomial model is illustrated. Furthermore, the method is extended to incorporate dependent data, as in cluster clinical trials and studies with multilevel design, and also to analyse polytomous outcomes. Comparisons between methods are made by analysing four data sets., Conclusions: In all cases analysed, it was observed that Bayesian methods are capable of estimating the measures of interest, always within the correct parametric space of probabilities.

Introduction: Thalidomide causes congenital defects in children, such as limb reduction defects. Currently, it is used for a few indications; in Brazil, where leprosy is endemic, thalidomide is used for the treatment of erythema nodosum leprosum, and recent cases of thalidomide embryopathy have been reported., Methods: We analyzed the frequency of births with phenotypes consistent with thalidomide embryopathy (TEP) and correlated this with the distribution of thalidomide and the prevalence of leprosy between 2005 and 2010 in Brazil., Results: A total of 5,889,210 thalidomide tablets were distributed; the prevalence of limb reduction defects was 1.60 (CI95%: 1.54-1.66) and TEP was 0.11 (CI95%: 0.10-0.13) per 10,000 births. Poisson regression showed an increase in cases of TEP and limb reduction defects per 100,000 tablets dispensed. Clusters and geographical isolates were identified in several regions., Conclusions: There is a correlation between thalidomide and TEP showing that thalidomide embryopathy should be monitored in countries where this medication is available., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Introduction: cancer is the second leading cause of death in children between the ages of 0 and 14 years, corresponding to approximately 3% of all cases diagnosed in Brazil. A significant percentage (5-10%) of pediatric cancers are associated with hereditary cancer syndromes, including Li-Fraumeni/Li-Fraumeni-like syndromes (LFS/LFL), both of which are caused by TP53 germline mutations. Recent studies have shown that a specific TP53 mutation, known as p.R337H, is present in 1 in 300 newborns in Southern and Southeast Brazil. In addition, a significant percentage of children with LFS/LFL spectrum tumors in the region have a family history compatible with LFS/LFL., Objective: to review clinical relevant aspects of LFS/LFL by our multidisciplinary team with focus on pediatric cancer., Methods: the NCBI (PubMed) and SciELO databases were consulted using the keywords Li-Fraumeni syndrome, Li-Fraumeni-like syndrome and pediatric cancer; and all manuscripts published between 1990 and 2014 using these keywords were retrieved and reviewed., Conclusion: although LFS/LFL is considered a rare disease, it appears to be substantially more common in certain geographic regions. Recognition of population- specific risks for the syndrome is important for adequate management of hereditary cancer patients and families. In Southern and Southeastern Brazil, LFS/ LFL should be considered in the differential diagnosis of children with cancer, especially if within the spectrum of the syndrome. Due to the complexities of these syndromes, a multidisciplinary approach should be sought for the counseling, diagnosis and management of patients and families affected by these disorders. Pediatricians and pediatric oncologists in areas with high prevalence of hereditary cancer syndromes have a central role in the recognition and proper referral of patients and families to genetic cancer risk evaluation and management programs.

Neurofibromatosis type 1 (NF1) patients are more likely to have vitamin D deficiency when compared to the general population. This study aimed to determine the levels of 25-OH-vitamin D [25(OH)D] in individuals with NF1 and disease-unaffected controls and analyze FokI and BsmI VDR gene polymorphisms in a case and in a control group. Vitamin D levels were compared between a group of 45 NF1 patients from Southern Brazil and 45 healthy controls matched by sex, skin type, and age. Genotypic and allelic frequencies of VDR gene polymorphisms were obtained from the same NF1 patients and 150 healthy controls. 25(OH)D deficiency or insufficiency was not more frequent in NF1 patients than in controls (p = 0.074). We also did not observe an association between FokI and BsmI VDR gene polymorphisms and vitamin D levels in NF1 patients, suggesting that their deficient or insufficient biochemical phenotypes are not associated with these genetic variants. The differences between the groups in genotypic and allelic frequencies for FokI and BsmI VDR gene polymorphisms were small and did not reach statistical significance. These polymorphisms are in partial linkage disequilibrium and the haplotype frequencies also did not differ in a significant way between the two groups (p = 0.613).

Since the first studies reporting the TP53 p.R337H mutation as founder mutation in Southern and Southeastern Brazil, there has been controversy on its origin. Preliminary analysis of a small subset of Brazilian mutation carriers revealed that the haplotype incided on a Caucasian background. The vast majority of carriers identified today reside in Brazil or, if identified in other countries, are Brazilian immigrants. To our knowledge, the only two exceptions of carriers without a recognizable link with Brazil are two European families, from Portugal and Germany. Haplotype analysis in the Portuguese family revealed the same haplotype identified in Brazilian individuals, but in the German family, a distinct haplotype was found. Knowing that a significant proportion of women with breast cancer (BC) in Southern Brazil are p.R337H carriers, we analyzed p.R337H in a Portuguese cohort of women diagnosed with this disease. Median age at diagnosis among the first 573 patients tested was 60 years and 100 (17.4%) patients had been diagnosed at or under the age of 45 years. Mutation screening failed to identify the mutation in the 573 patients tested. These results are in contrast with the mutation frequency observed in a study including 815 BC-affected women from Brazil, in which carrier frequencies of 12.1 and 5.1% in pre- and postmenopausal women were observed, respectively. These findings suggest that the Brazilian founder mutation p.R337H, the most frequent germline TP53 mutation reported to date, is not a common germline alteration in Portuguese women diagnosed with BC., (© 2014 Wiley Periodicals, Inc.)

Germline TP53 mutations predispose individuals to multiple cancers and are associated with Li-Fraumeni/Li-Fraumeni-Like Syndromes (LFS/LFL). The founder mutation TP53 p.R337H is detected in 0.3% of the general population in southern Brazil. This mutation is associated with an increased risk of childhood adrenal cortical carcinoma (ACC) but is also common in Brazilian LFS/LFL families. Breast Cancer (BC) is one of the most common cancers diagnosed in TP53 mutation carriers. We have assessed the prevalence of p.R337H in two groups: (1) 59 BC affected women with a familial history (FH) suggestive of hereditary cancer syndrome but no LFS/LFL features; (2) 815 BC affected women unselected for cancer FH, diagnosed with BC at or before age 45 or at age 55 or older. Among group 1 and group 2 patients, 2/59 (3.4%, CI95%: 0.4%-11.7%) and 70/815 (8.6%, CI95%: 6.8%-10.7%), respectively, were p.R337H carriers in the germline. The prevalence of p.R337H was higher in women diagnosed with BC at or before age 45 (12.1%, CI95%: 9.1%-15.8%) than at age 55 or older (5.1%, CI95%: 3.2%-7.7%), p<0.001). The Brazilian founder p.R337H haplotype was detected in all carriers analysed. These results suggest that inheritance of p.R337H may significantly contribute to the high incidence of BC in Brazil, in addition to its recently demonstrated impact on the risk of childhood ACC.

Background: Because lithium exerts neuroprotective effects in preclinical models of polyglutamine disorders, our objective was to assess the safety and efficacy of lithium carbonate (0.5-0.8 milliequivalents per liter) in patients with Machado-Joseph disease (spinocerebellar ataxia type 3 [MJD/SCA3])., Methods: For this phase 2, single-center, double-blind, parallel, placebo-controlled trial (ClinicalTrials.gov identifier NCT01096082), 62 patients who had MJD/SCA3 with a disease duration ≤10 years and an independent gait were randomly assigned (1:1) to receive either lithium or placebo., Results: After 24 weeks, 169 adverse events were reported, including 50.3% in the lithium group (P = 1.00; primary safety outcome). Sixty patients (31 in the placebo group and 29 in the lithium group) were analyzed for efficacy (intention-to-treat analysis). Mean progression between groups did not differ according to scores on the Neurological Examination Score for the Assessment of Spinocerebellar Ataxia (NESSCA) after 48 weeks (-0.35; 95% confidence interval, -1.7 to 1.0; primary efficacy outcome). The lithium group exhibited minor progression on the PATA speech-rate (P = 0.002), the nondominant Click Test (P = 0.023), the Spinocerebellar Ataxia Functional Index (P = 0.003), and the Composite Cerebellar Functional Score (P = 0.029)., Conclusions: Lithium was safe and well tolerated, but it had no effect on progression when measured using the NESSCA in patients with MJD/SCA3. This slowdown in secondary outcomes deserves further clarification., (© 2014 International Parkinson and Movement Disorder Society.)

Recent studies have emphasized that there is no justification for using the odds ratio (OR) as an approximation of the relative risk (RR) or prevalence ratio (PR). Erroneous interpretations of the OR as RR or PR must be avoided, as several studies have shown that the OR is not a good approximation for these measures when the outcome is common (> 10%). For multinomial outcomes it is usual to use the multinomial logistic regression. In this context, there are no studies showing the impact of the approximation of the OR in the estimates of RR or PR. This study aimed to present and discuss alternative methods to multinomial logistic regression based upon robust Poisson regression and the log-binomial model. The approaches were compared by simulating various possible scenarios. The results showed that the proposed models have more precise and accurate estimates for the RR or PR than the multinomial logistic regression, as in the case of the binary outcome. Thus also for multinomial outcomes the OR must not be used as an approximation of the RR or PR, since this may lead to incorrect conclusions.

Background: Pediatric cancers are a feature in patients with Li-Fraumeni syndrome and its variant Li-Fraumeni-like syndrome (LFS/LFL). To the best of the authors' knowledge, TP53 germline mutations are currently the only molecular defect known to be associated with this disease. Recently, a specific germline mutation in this gene, p.R337H, has been reported at a high prevalence in Brazil., Methods: The prevalence of LFS/LFL was investigated in children with cancer who were diagnosed with tumors on the LFS/LFL spectrum and in a small consecutive series of controls without cancer. The prevalence of the germline p.R337H mutation and of other germline TP53 mutations was investigated in a general group of children with cancer and exclusively in children fulfilling the clinical criteria for LFS/LFL, respectively., Results: Among the 65 children without cancer, 1.5% had a family history of LFL whereas of the 292 children with cancer, 25.3% had a family history of LFL (P < .001). Screening for the p.R337H mutation identified 11 carriers (3.7%), 9 of whom were diagnosed with adrenocortical carcinomas (ACC) and 2 of whom were diagnosed with choroid plexus carcinomas. One of the ACC probands was homozygous mutant. The Brazilian founder haplotype and loss of heterozygosity at the p.R337H locus were present in all carriers. In addition, direct sequencing of the entire TP53 coding region and gene rearrangement analysis of probands fulfilling the criteria for LFL (Eeles 2 criteria, Birch and/or Chompret criteria) and who were negative for the p.R337H mutation revealed a DNA-binding domain pathogenic mutation, p.G245S, in 1 child., Conclusions: TP53 p.R337H testing should be offered to Brazilian children diagnosed with ACC and choroid plexus carcinoma. A significant percentage of children with cancer in southern Brazil fulfill the criteria for LFL and should be referred for genetic risk assessment., (© 2013 American Cancer Society.)

Objective: To evaluate the effect of fibre intake on the evolution of maternal BMI from pregnancy to postpartum and to identify dietary patterns associated with fibre intake., Design: Cohort study. Food intake was obtained using an FFQ. Focused principal component analysis was used focusing on the variables: postpartum weight retention and total dietary fibre intake. Poisson regression models with robust variance were built in order to measure the effect of fibre intake during the postpartum period on obesity risk., Setting: Primary care clinics in southern Brazil., Subjects: Pregnant women (n 370) were followed until the 5th month postpartum., Results: The highest contribution to fibre intake came from the consumption of beans. Consumption of bread and rice indicated a common Brazilian food pattern along with beans. Participants retained a median of 4.4 (interquartile range 0.6, 7.9) kg of weight gained during pregnancy. Obesity risk, defined as an unfavourable evolution of BMI during pregnancy and postpartum, was present in 189 (55.1%) women. Individual food items did not have an important effect on weight retention. In Poisson regression adjusting for maternal age, pre-pregnancy BMI and total gestational weight gain, inadequate postpartum fibre intake increased obesity risk by 24% (relative risk 51.24; 95% CI 1.05, 1.47)., Conclusions: Important maternal weight retention occurred in these women. Adequate fibre intake may reduce obesity risk in the period following childbirth.

A few studies have reported phyllodes tumors (PT) of the breast with germline TP53 mutations. Given this potential association and the high frequency of the TP53 p.R337H in southern and southeastern Brazil, the aim of this study was to assess whether p.R337H occurs among women diagnosed with such rare tumors in this region. Benign, borderline, and malignant breast PT were retrieved from eight pathology laboratories, and DNA was extracted from tumor tissue to perform p.R337H analysis. Overall, 128 cases classified as benign, 7 as borderline, and 13 as malignant PT were included in the study. The TP53 p.R337H mutation was identified in tumor cells of eight (5.4 %) cases. Analysis of DNA from non-tumoral tissue was possible in two of these, and both were p.R337H carriers in the germline. In addition, haplotype analysis was done in these two p.R337H carriers showing the presence of the founder haplotype previously reported in Brazilian mutation-positive individuals. Mutation frequency was significantly higher among malignant (3 of 13; 23 %) compared to benign tumors (5 of 128; 3.4 %) (p = 0.004). Mean age at PT diagnosis was not significantly different between mutation carriers and non-carriers. However, when subgroups where analyzed, the difference in age at diagnosis of carriers versus non-carriers within the group of benign tumors reached borderline significance. Our findings reinforce previous evidence that TP53 mutations have an important role in the development of both benign and malignant PT of the breast.

The objective of this study was to provide normative SF-36 scores in a general population sample in Brazil and to describe differences in mean scores according to socio-demographic characteristics. The SF-36 questionnaire was distributed to a randomly selected sample of the general population of Porto Alegre in the State of Rio Grande do Sul. The response rate was 68% and 755 subjects were included (38% male, 62% female). Lower health status was revealed among females in the 30 to 44 year age bracket, from the lower income class, with less education and self-reported chronic medical conditions. The results and percentiles of scores of the SF-36 are reported as normative data for the general population. The SF-36 was an acceptable and practical instrument for measuring health-related quality of life in a sample of Brazilians. The results of this study can be useful for researchers using the SF-36 questionnaire in other groups to compare the scores with normative data. The SF-36 may prove a valuable tool for discovering vulnerable groups in epidemiological studies due to the ability to discriminate between different population subgroups.

Objective: To evaluate dietary quality in a sample of pregnant women based on one simple and objective parameter., Methods: Pregnant women (n = 712), between 16 and 36 weeks, attending primary care clinics in Porto Alegre and Bento Gonçalves, Southern Brazil, in 2010 were recruited to take part. The Healthy Eating Index for Brazilian Pregnancy (HEIP-B) was created, derived from the American instrument called Alternate Healthy Eating Index for Pregnancy (AHEI-P). Questionnaires on frequency of consumption and on socio-demographic factors were completed. Focused principal component analysis (ACPF) was used to assess the relationship between the index and nutrients relevant to pregnancy., Results: The median (interquartile range) of AHEI-P and HEIP-B were 66.6 (57.8-72.4) and 67.4 (60.0-73.4), respectively. The HEIP-B showed a good positive correlation with nutrients which are specifically recommended for pregnancy: folate (r = 0.8; p < 0.001), calcium (r = 0.6; p < 0.001) and iron (r = 0.7; p < 0.001)., Conclusions: The quality of the diet of the pregnant women in this study was classified as within the "improvements needed" cut off point, which demonstrates the need for more specific education on nutrition for this stage of life. The index showed good correlations and, thus, may be considered an effective tool for assessing the quality of nutrition during pregnancy.

Objective: To assess the impact of binge eating behavior (BE) during pregnancy on birth outcomes among 697 Brazilian women who attended primary care., Method: Pregnant women answered a questionnaire on sociodemographic data, obstetric history, and The Eating Disorder Examination Questionnaire (EDE-Q). Perinatal outcomes were obtained from birth records. Birth weight, prematurity, caesarean delivery, being small or large for gestational age were compared among women reporting BE (N = 119) and those without BE (N = 578). Poisson regression was used to estimate the association between BE during pregnancy and birth outcomes., Results: BE during pregnancy was not significantly associated with the birth outcomes analyzed. Gestational weight gain was significantly higher among those who reported BE., Discussion: Binge eating behavior during pregnancy may not influence birth outcomes as binge eating disorder does but affects gestational weight gain. Women reporting binge eating during pregnancy should undergo a diagnostic assessment for eating disorders., (Copyright © 2012 Wiley Periodicals, Inc.)

Polymorphisms of hormone receptor genes have been linked to modifications in reproductive factors and to an increased risk of breast cancer (BC). In the present study, we have determined the allelic and genotypic frequencies of the ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms and investigated their relationship with mammographic density, body mass index (BMI) and other risk factors for BC. A consecutive and unselected sample of 750 Brazilian BC-unaffected women enrolled in a mammography screening program was recruited. The distribution of PGR PROGINS genotypic frequencies was 72.5, 25.5 and 2.0% for A1A1, A1A2 and A2A2, respectively, which was equivalent to that encountered in other studies with healthy women. The distribution of ERα genotypes was: ERα-397 PvuII C/T: 32.3% TT, 47.5% TC, and 20.2% CC; ERα-351 XbaI A/G: 46.3% AA, 41.7% AG and 12.0% GG. ERα haplotypes were 53.5% PX, 14.3% Px, 0.3% pX, and 32.0% px. These were significantly different from most previously published reports worldwide (P < 0.05). Overall, the PGR PROGINS genotypes A2A2 and A1A2 were associated with fatty and moderately fatty breast tissue. The same genotypes were also associated with a high BMI in postmenopausal women. In addition, the ERα-351 XbaI GG genotype was associated with menarche ≥ 12 years (P = 0.02). ERα and PGR polymorphisms have a phenotypic effect and may play an important role in BC risk determination. Finally, if confirmed in BC patients, these associations could have important implications for mammographic screening and strategies and may be helpful to identify women at higher risk for the disease.

Genetic polymorphisms in genes related to the metabolism of xenobiotics, such as genes of the glutathione S-transferases (GSTM1, GSTT1, and GSTP1) superfamily have been associated with an increased risk for breast cancer (BC). Considering the high incidence of BC in the city of Porto Alegre in southern Brazil, the purpose of this study was to characterize genotypic and allelic frequencies of polymorphisms in GSTM1, GSTT1, and GSTP1, and correlate these molecular findings with established risk factors for breast cancer including mammographic density, in a sample of 750 asymptomatic women undergoing mammographic screening. Molecular tests were performed using the multiplex polymerase chain reaction (PCR) for GSTM1 and GSTT1, and quantitative PCR for GSTP1 polymorphisms. Overall, the frequencies of GSTM1 and GSTT1 null genotypes were 45% and 21%, respectively. For GSTP1 polymorphism, genotypic frequencies were 44% for the Ile/Ile genotype, 44% for the Ile/Val genotype, and 12% for Val/Val genotype, with an allelic frequency of 66% for the wild type allele in this population, similar to results of previous international publications. There was a statistically significant association between the combined GSTM1 and GSTT1 null genotypes (M-/T-) and mammographic density in post menopausal women (p = 0.031). When the GSTT1 null (T-) genotype was analyzed isolated, the association with mammographic density in post menopausal women and in the overall sample was also statistically significant (p = 0.023 and p = 0.027, respectively). These findings suggest an association of GSTM1 and GSTT1 null genotypes with mammographic density.

About 5-10% of breast and ovarian carcinomas are hereditary and most of these result from germline mutations in the BRCA1 and BRCA2 genes. In women of Ashkenazi Jewish ascendance, up to 30% of breast and ovarian carcinomas may be attributable to mutations in these genes, where 3 founder mutations, c.68&#95;69del (185delAG) and c.5266dup (5382insC) in BRCA1 and c.5946del (6174delT) in BRCA2, are commonly encountered. It has been suggested by some authors that screening for founder mutations should be undertaken in all Brazilian women with breast cancer. Thus, the goal of this study was to determine the prevalence of three founder mutations, commonly identified in Ashkenazi individuals in a sample of non-Ashkenazi cancer-affected Brazilian women with clearly defined risk factors for hereditary breast and ovarian cancer (HBOC) syndrome. Among 137 unrelated Brazilian women from HBOC families, the BRCA1c.5266dup mutation was identified in seven individuals (5%). This prevalence is similar to that encountered in non-Ashkenazi HBOC families in other populations. However, among patients with bilateral breast cancer, the frequency of c.5266dup was significantly higher when compared to patients with unilateral breast tumors (12.1% vs 1.2%, p = 0.023). The BRCA1 c.68&#95;69del and BRCA2 c.5946del mutations did not occur in this sample. We conclude that screening non-Ashkenazi breast cancer-affected women from the ethnically heterogeneous Brazilian populations for the BRCA1 c.68&#95;69del and BRCA2 c.5946del is not justified, and that screening for BRCA1c.5266dup should be considered in high risk patients, given its prevalence as a single mutation. In high-risk patients, a negative screening result should always be followed by comprehensive BRCA gene testing. The finding of a significantly higher frequency of BRCA1 c.5266dup in women with bilateral breast cancer, as well as existence of other as yet unidentified founder mutations in this population, should be further assessed in a larger well characterized high-risk cohort.

Purpose: Normative data for WHOQOL-bref are scarce in the literature and unavailable in Latin American countries. The main objective of this study was to provide normative scores of WHOQOL-bref in a general population sample in Brazil and to describe differences in mean scores according to some socio-demographic characteristics., Methods: WHOQOL-bref was applied to a randomly selected sample of the general population of Porto Alegre. Participants were literate people aged 20 to 64 years. The questionnaires were self-administered in the presence of an interviewer in the respondent's home., Results: The response rate was 68%, and the final sample contained 751 respondents (38% men, 62% women). Low quality of life was observed in the following subgroups: female gender, lower economic class, lower educational level, and the subgroup reporting a chronic medical condition. The mean scores of the WHOQOL-bref and percentiles of scores are reported as normative data for the general population., Conclusion: Our results can be useful to researchers using the WHOQOL-bref to compare their results with normative data from a randomly selected sample of general population. Additionally, the ability of WHOQOL-bref to discriminate different population subgroups makes it an important tool to identify vulnerable groups in epidemiological surveys.

Objectives: SF-6D is a preference-based measure of health developed to estimate utility values from the SF-36. The aim of this study was to estimate a weighting system for the SF-6D health states representing the preferences of a sample of the Southern Brazilian general population., Methods: A sample of 248 health states defined by the SF-6D was valued by a sample of the southern Brazilian population using the standard gamble. Mean and individual level multivariate regression models were fitted to the standard gamble valuation data to estimate preference weights for all SF-6D health states. The models were compared with those estimated in the UK study., Results: Five hundred twenty-eight participants were interviewed, but 58 (11%) were excluded for failing to value the worst state. Data from 469 subjects producing 2696 health states valuations were used in the regression analysis. In contrast to the best performing model for the UK data, the best performing model for the Brazilian data was a random effects model using only the main effects variables, highlighting the importance of adopting a country-specific algorithm to derive SF-6D health states values. Inconsistent coefficients were merged to produce the final recommended model, which has all significant coefficients and a mean absolute difference between observed and predicted standard gamble values of 0.07., Conclusions: The results provide the first population-based value set for Brazil for SF-6D health states, making it possible to generate quality-adjusted life years for cost-utility studies using regional data. Besides, utility weights derived using the preferences of a sample from a southern Brazilian population can be derived from existing SF-36 data sets., (Copyright © 2011 International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Published by Elsevier Inc. All rights reserved.)

Several studies have identified the single nucleotide polymorphism STK15 F31I as a low-penetrance risk allele for breast cancer, but its prevalence and risk association in the Brazilian population have not been determined. The goal of this study was to identify the frequency of this polymorphism in the Brazilian setting. Considering the high degree of admixture of our population, it is of fundamental importance to validate the results already reported in the literature and also to verify the relationship between this variant and breast cancer risk. A total of 750 women without breast cancer were genotyped using the TaqMan PCR assay for STK15 F31I polymorphism. Clinical information was obtained from review of the medical records and mammographic density from the images obtained using the BI-RADS System. The estimated risk of developing cancer was calculated according to the Gail model. The genotypic frequencies observed in this study were 4.5, 38.7, and 56.6%, respectively, for the STK15 F31I AA, AT and TT genotypes. The AT and AA genotypes were encountered significantly more often in premenopausal women with moderately dense, dense and heterogeneously dense breast tissue (P = 0.023). In addition, the presence of the TT genotype was significantly associated with age at menarche ≥12 years (P = 0.023). High mammographic density, associated with increased breast cancer risk, was encountered more frequently in premenopausal women with the risk genotypes STK15 F31I AA and AT. The genotypic frequencies observed in our Brazilian sample were similar to those described in other predominantly European populations.

Aim: To determine the prevalence of a family history suggestive of Lynch syndrome (LS) among patients with colorectal cancer (CRC) followed in a coloproctology outpatient clinic in Southern Brazil., Methods: A consecutive sample of patients with CRC were interviewed regarding personal and family histories of cancer. Clinical data and pathology features of the tumor were obtained from chart review., Results: Of the 212 CRC patients recruited, 61 (29%) reported a family history of CRC, 45 (21.2%) were diagnosed under age 50 years and 11 (5.2%) had more than one primary CRC. Family histories consistent with Amsterdam and revised Bethesda criteria for LS were identified in 22 (10.4%) and 100 (47.2%) patients, respectively. Twenty percent of the colorectal tumors had features of the high microsatellite instability phenotype, which was associated with younger age at CRC diagnosis and with Bethesda criteria (P < 0.001). Only 5.3% of the patients above age 50 years had been previously submitted for CRC screening and only 4% of patients with suspected LS were referred for genetic risk assessment., Conclusion: A significant proportion of patients with CRC were at high risk for LS. Education and training of health care professionals are essential to ensure proper management.

Background: There are few studies in Brazil that address baseline prevalence of MRSA colonization and associated risk factors at hospital admission, or the incidence of nosocomial colonization. We report a prospective study in a tertiary-care, university-affiliated hospital to implement a new MRSA control policy at the institution., Methods: A cohort of randomly selected patients admitted to emergency and clinical wards at our hospital was followed until discharge. Nasal swabs were taken for identification of MRSA-colonized patients and detection of SCCmecA in positive cultures, at admission and weekly thereafter. Multivariate analysis using a log-binomial analysis was used to identify risk factors for colonization., Results: After screening 297 adult patients and 176 pediatric patients, the prevalence of MRSA at admission was 6.1% (95%CI, 3.6% to 9.4%), in the adult population and 2.3% (95%CI, 0.6% to 5.7%), for children. From multivariate analysis, the risk factors associated with colonization in adults were: age above 60 years (P = 0.019) and hospitalization in the previous year (P = 0.022). Incidence analysis was performed in 276 MRSA-negative patients (175 adults and 101 children). Acquisition rate was 5.5/1,000 patient-days for adults (95%CI, 3.4 to 8.5/1,000 patients-days), and 1.1/1,000 patient-days for children (95%CI, 0.1 to 4.0/1,000 patients-days)., Conclusions: The identification of MRSA carriers is a step towards establishing a control policy for MRSA, and helps to identify measures needed to reduce colonization pressure and to decrease the high acquisition rate in hospitalized patients.

Background: Adherence to breast cancer screening is a key element to ensure effectiveness of programs aiming at downstaging of breast cancer. In this study, we evaluated adherence to a screening program and its predictors in underserved women in southern Brazil., Methods: Attendance to the program, which is based on yearly mammogram and clinical examination, was evaluated prospectively. Mean time frames between visits were calculated. Possible predictors of adherence (defined as mean intervals ≤18 mo), such as socioeconomic indicators and health/lifestyle behaviors, were investigated., Results: A total of 3,749 women (age 51 ± 8 y, illiteracy rate of 6.8%, 57.4% with parity ≥3) were analyzed. Median time between screening rounds was 16.5 months (interquartile range, 13.1-25.7), and median number of rounds attended was 3 (interquartile range, 2-4); 57.6% had mean intervals ≤18, and 71% ≤24 months. The most important independent predictors of adherence were high genetic risk [relative risk (RR), 1.25; 95% confidence interval (95% CI), 1.11-1.40], illiteracy (RR, 0.77; 95% CI, 0.67-0.90), parity ≥5 (RR, 0.89; 95% CI, 0.83-0.96), and smoking (RR, 0.82; 95% CI, 0.77-0.88)., Conclusions: Although the proposed screening interval was 1 year, compliance to biannual screening (accepted in several international programs) was high, especially when considering the low socioeconomic level of the sample., Impact: This project aims to test a breast cancer screening model for underserved populations in limited-resource countries where adherence is an issue. The identification of worst adherence predictors can point to interventions to improve outcomes of similar public health screening strategies., (©2010 AACR.)

Background: Several studies have demonstrated the effectiveness and cost-effectiveness of implantable cardioverter-defibrillators (ICDs) in chronic heart failure (CHF) patients. Despite its widespread use in developing countries, limited data exist on its cost-effectiveness in these settings., Objective: To evaluate the cost-effectiveness of ICD in CHF patients under the perspective of the Brazilian Public Healthcare System (PHS)., Methods: We developed a Markov model to evaluate the incremental cost-effectiveness ratio (ICER) of ICD compared with conventional therapy in patients with CHF and New York Heart Association class II and III. Effectiveness was evaluated in quality-adjusted life years (QALYs) and time horizon was 20 years. We searched MEDLINE for clinical trials and cohort studies to estimate data from effectiveness, complications, mortality, and utilities. Costs from the PHS were retrieved from national administrative databases. The model's robustness was assessed through Monte Carlo simulation and one-way sensitivity analysis. Costs were expressed as international dollars, applying the purchasing power parity conversion rate (PPP US$)., Results: ICD therapy was more costly and more effective, with incremental cost-effectiveness estimates of PPP US$ 50,345/QALY. Results were more sensitive to costs related to the device, generator replacement frequency and ICD effectiveness. In a simulation resembling the MADIT-I population survival and ICD benefit, the ICER was PPP US$ 17,494/QALY and PPP US$ 15,394/life years., Conclusions: In a Brazilian scenario, where ICD cost is proportionally more elevated than in developed countries, ICD therapy was associated with a high cost-effectiveness ratio. The results were more favorable for a patient subgroup at increased risk of sudden death.

This study aimed to assess the validity and reliability of World Health Organization Quality of Life Instrument (WHOQOL)-brief and SF-36 in patients with coronary artery disease (CAD). Considering that depression is known to be associated with bad outcomes in CAD and it is highly associated with poor Quality of Life (QOL), we tested the correlation between WHOQOL and SF-36 and an instrument to screen depressive symptoms. It is a cross-sectional survey conducted in 103 patients with documented CAD. QOL was measured through WHOQOL-brief and SF-36 and depressive symptoms were assessed by the Beck Depression Inventory (BDI). To evaluate convergent validity, the correlations between both QOL assessment instruments were examined; discriminant validity was assessed through BDI and QOL instruments correlations. Coefficient Cronbach's alpha was used to test reliability. Percentages of floor and ceiling effects were higher in SF-36 scores than the WHOQOL-brief ones. Although WHOQOL-brief showed a maximum of 1% of floor effect and 9% of ceiling effect, SF-36 presented 40 and 32%, respectively. Internal consistency reliability ranged from 0.65 to 0.85 for the WHOQOL-brief and 0.57 to 0.89 for the SF-36. Correlations between subscales of WHOQOL-brief and BDI ranged from -0.74 to -0.61 and correlations between subscales of SF-36 and BDI ranged from -0.68 to -0.26. SF-36 and WHOQOL-brief seem to be valid and consistent QOL measures in patients with CAD. Researchers should define the aims of their studies before choosing which instrument to use, because they appear to measure different constructs of QOL.

Decreased pulse pressure (PP) is associated with low cardiac output and increased mortality in heart failure (HF) inpatients. QRS width is a well-known prognostic factor in HF. The study purpose was to explore the mortality effect of combining PP and QRS width in HF outpatients. Initial sphygmomanometrically determined PP and QRS width on the first electrocardiograph in 327 consecutive patients at an HF clinic were recorded. According to PP > or = or <40 mm Hg and QRS width > or = or <120 ms, patients were classified into 4 groups. Study groups were analyzed for their effect on mortality using Cox proportional hazards regression analysis. Patients with PP <40 mm Hg had higher mortality (59% vs 45%; P=.015). QRS width > or =120 ms indicated a trend toward higher mortality (57% vs 48%; P=.067). Actuarial survival curves showed that group 4 (QRS width > or =120 ms and PP <40 mm Hg) had significant increased mortality risk in 3.5 years' mean follow-up. Group 4 had a mean survival time of 1124 days (SD=124) vs 2233 days (SD=285) in group 1 (QRS width <120 ms and PP > or =40 mm Hg) (P=.022). There was a linear association between left ventricular ejection fraction (LVEF) and study groups. PP and QRS width are readily available, inexpensive, and relevant clinical measures to help identify HF outpatients with significantly worse prognosis and decreased LVEF., (2009 Wiley Periodicals, Inc.)

Background: Breast cancer is a significant public health problem worldwide and the development of tools to identify individuals at-risk for hereditary breast cancer syndromes, where specific interventions can be proposed to reduce risk, has become increasingly relevant. A previous study in Southern Brazil has shown that a family history suggestive of these syndromes may be prevalent at the primary care level. Development of a simple and sensitive instrument, easily applicable in primary care units, would be particularly helpful in underserved communities in which identification and referral of high-risk individuals is difficult., Methods: A simple 7-question instrument about family history of breast, ovarian and colorectal cancer, FHS-7, was developed to screen for individuals with an increased risk for hereditary breast cancer syndromes. FHS-7 was applied to 9218 women during routine visits to primary care units in Southern Brazil. Two consecutive samples of 885 women and 910 women who answered positively to at least one question and negatively to all questions were included, respectively. The sensitivity, specificity and positive and negative predictive values were determined., Results: Of the 885 women reporting a positive family history, 211 (23.8%; CI95%: 21.5-26.2) had a pedigree suggestive of a hereditary breast and/or breast and colorectal cancer syndrome. Using as cut point one positive answer, the sensitivity and specificity of the instrument were 87.6% and 56.4%, respectively. Concordance between answers in two different applications was given by a intra-class correlation (ICC) of 0.84 for at least one positive answer. Temporal stability of the instrument was adequate (ICC = 0.65)., Conclusion: A simple instrument for the identification of the most common hereditary breast cancer syndrome phenotypes, showing good specificity and temporal stability was developed and could be used as a screening tool in primary care to refer at-risk individuals for genetic evaluations.

In 2004, a population-based cohort (the Núcleo Mama Porto Alegre - NMPOA Cohort) was started in Porto Alegre, southern Brazil and within that cohort, a hereditary breast cancer study was initiated, aiming to determine the prevalence of hereditary breast cancer phenotypes and evaluate acceptance of a genetic cancer risk assessment (GCRA) program. Women from that cohort who reported a positive family history of cancer were referred to GCRA. Of the 9218 women enrolled, 1286 (13.9%) reported a family history of cancer. Of the 902 women who attended GCRA, 55 (8%) had an estimated lifetime risk of breast cancer ≥ 20% and 214 (23.7%) had pedigrees suggestive of a breast cancer predisposition syndrome; an unexpectedly high number of these fulfilled criteria for Li-Fraumeni-like syndrome (122 families, 66.7%). The overall prevalence of a hereditary breast cancer phenotype was 6.2% (95%CI: 5.67-6.65). These findings identified a problem of significant magnitude in the region and indicate that genetic cancer risk evaluation should be undertaken in a considerable proportion of the women from this community. The large proportion of women who attended GCRA (72.3%) indicates that the program was well-accepted by the community, regardless of the potential cultural, economic and social barriers.

The aim of this study was to assess the prevalence and consistency of self-reported family history of cancer among first-degree relatives (FDR) in a population-based study. Women at primary care units (PCU) were submitted to a questionnaire about cancer family history. Consistency of the report was determined by comparing self-reported history at the PCU to data from subsequent genetic evaluations and/or cancer confirmatory documents. Consistency in relation to degree of education, reported tumor type and reported age at cancer diagnosis in FDR was assessed. In 8,881 women interviewed, the prevalence of cancer in an FDR was 25.14% (CI 95%: 24.14; 25.94). Mean age was 40.29 years and most (70.26%) had < or = 8 years of education. There was a good agreement of self-reported cancer history at the PCU and in subsequent genetic evaluations [Kappa coefficient = 0.76 (P < 0.05)]. Inconsistencies were not related to low literacy (chi (2) = 2.027; P = 0.363). Consistency of the reported information for cancer status, cancer type and age of onset was 92.59%, 85.33% and 92.64%, respectively. The prevalence of cancer history in an FDR was similar to previous reports in other populations. Consistency and reliability of the self-reported information was high, regardless of educational level.

The association between clustering of risk factors and self-reported cardiovascular disease among women was investigated in a cross-sectional study using a multistage population-based sample. Participants were interviewed at home about diabetes mellitus, physical activity, and diet pattern. Hypertension was defined as blood pressure > or =140/90mmHg or use of anti-hypertensive medication. Cardiovascular disease included self-reported myocardial infarction, heart failure, coronary artery bypass surgery, and stroke. A sample of 1,007 women from Porto Alegre, Southern Brazil, mostly white (73%), 44.8 +/- 0.8 years old, and with 9.3 +/- 0.3 years of schooling was investigated. Hypertension, diabetes mellitus, obesity, low fruit and vegetable intake, and lack of vigorous or moderate physical activity were clustered into a combination of risk factors, which were independently associated with self-reported cardiovascular disease. The main cluster included hypertension and diabetes, accounting for an independent risk ratio of 8.5 (95%CI: 3.0-24.5). Clustering of cardiovascular risk factors is strongly associated with self-reported cardiovascular disease among women.