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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. [ABSTRACT FROM AUTHOR]

Background: Increase in fibre intake during pregnancy may reduce weight gain, glucose intolerance, dyslipidaemia, pre-eclampsia and constipation. Few studies have evaluated adequacy of fibre intake during pregnancy.Objective: To assess, through an FFQ, the dietary fibre intake of pregnant women receiving prenatal care from general public practices and compare it with current guidelines.Design and Setting: Cross-sectional analyses of a pregnancy cohort study (ECCAGE-Study of Food Intake and Eating Behaviour in Pregnancy) conducted in eighteen general practices in southern Brazil, from June 2006 to April 2007.Subjects: Five hundred and seventy-eight pregnant women with mean (SD) age of 24.9 (6.5) years and mean gestational age of 24.5 (5.8) weeks.Results: The mean energy intake was 11 615 kJ/d (2776 kcal/d). The mean total fibre intake (30.2 g/d) was slightly above the recommended value of 28 g/d (P < 0.001), yet 50% (95% CI 46, 54) of the women failed to meet the recommendation. Whole-grain fibre constituted only 1% of total fibre intake in the cereal group. In adjusted Poisson regression analyses, not meeting the recommendation for fibre intake was associated with alcohol intake (prevalence ratio 1.29; 95% CI 1.11, 1.50) and absence of nutritional guidance (prevalence ratio 1.22; 95% CI 1.05, 1.42) during pregnancy.Conclusions: About half of the pregnant women failed to meet the recommended fibre intake, especially those not reporting nutritional guidance during pregnancy. For most women, whole-grain cereal intake was absent or trivial. Taken together, our data indicate the need, at least in this setting, for greater nutritional education in prenatal care. [ABSTRACT FROM AUTHOR]

OBJETIVO: Os transtornos depressivos constituem um problema de saúde pública devido a sua alta prevalência e impacto psicossocial. Pacientes deprimidos são freqüentadores assíduos de serviços de atendimento primário, porém, muitas vezes, não são diagnosticados como tais. O objetivo do estudo é avaliar a associação entre sintomas depressivos e funcionamento social numa amostra de pacientes que procuraram um serviço de cuidados primários em uma capital brasileira. MÉTODOS: Foram avaliados 2.201 usuários de serviços de cuidados de saúde primários de Porto Alegre quanto à saúde física e emocional. Foi aplicado questionário em entrevista única, com duas questões genéricas de avaliação de qualidade de vida do World Health Organization Quality of Life (WHOQOL-Breve), mais itens do Medical Outcomes Study Short-Forms 12 (SF-12) e MHI 5 (MHI-5), do Centers for Epidemiologic Studies -- Depression (CES-D), além de outras questões referentes a busca de atendimento médico e faltas ao trabalho. Foram realizados testes de Kruska-Wallis e de comparações múltiplas de Tambane. RESULTADOS: Dos indivíduos estudados, 79,5% eram do sexo feminino, com média de idade de 40 anos. A intensidade da sintomatologia depressiva medida pelo CES-D foi de 20,2 para as mulheres e de 16,2 para os homens. Todos os parâmetros avaliados tiveram relação inversa com a intensidade dos sintomas depressivos. CONCLUSÕES: Os resultados reforçam a afirmativa de que a sintomatologia depressiva tem uma alta associação com pior funcionamento social e qualidade de vida e maior utilização de recursos de saúde em pacientes de cuidados primários.

Abstract 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_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_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_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.

Abstract 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.

Abstract Background Woman's nutritional status, before and during pregnancy, is a strong determinant of health outcomes in the mother and newborn. Gestational weight gain and postpartum weight retention increases risk of overweight or obesity in the future and they depend on the pregestational nutritional status and on food consumption and eating behavior during pregnancy. Eating behavior during pregnancy may be the cause or consequence of mood changes during pregnancy, especially depression, which increases likelihood of postpartum depression. In Brazil, a study carried out in the immediate postpartum period found that one in three women experienced some type of violence during pregnancy. Violence and depression are strongly associated and both exposures during pregnancy are associated with increased maternal stress and subsequent harm to the infant. The main objectives of this study are: to identify food intake and eating behaviors patterns; to estimate the prevalence of common mental disorders and the experience of violence during and after pregnancy; and to estimate the association between these exposures and infant's health and development. Methods/Design This is a cohort study of 780 pregnant women receiving care in 18 primary care units in two cities in Southern Brazil. Pregnant women were first evaluated between the 16th and 36th week of pregnancy at a prenatal visit. Follow-up included immediate postpartum assessment and around the fifth month postpartum. Information was obtained on sociodemographic characteristics, living circumstances, food intake, eating behaviors, mental health and exposure to violence, and on infant's development and anthropometrics measurements. Discussion This project will bring relevant information for a better understanding of the relationship between exposures during pregnancy and how they might affect child development, which can be useful for a better planning of health actions aiming to enhance available resources in primary health care.

Abstract 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.

Background: Preoperative stress might influence postoperative pain, thereby, it is desirable to assess it more precisely. Thus, we developed and evaluated the psychometric properties of a brief measure of emotional preoperative stress (B-MEPS) index using Item Response Category Characteristic Curves. We validated and assessed whether the B-MEPS can predict moderate to intense acute postoperative pain (MIAPP).Methods: We included 863 adult patients who underwent elective surgeries (ASA I-III physical status). The B-MEPS was constructed based on items selected from instruments to assess anxiety, depression, future self-perception and minor psychiatric disorders. We identified 24 items with greatest discriminant power to identify patients who should undergo surgery to treat cancer with MIAPP. The reliability was maximized using the Cronbach's alpha indices. Fifteen items remained, which were adjusted by the Generalized Partial Credit Model. The convergent validity was assessed correlating the B-MEPS index with the pain catastrophizing (n = 100). Finally, the B-MEPS was applied in a prospective cohort of patients who underwent an abdominal hysterectomy (n = 150).Results: The Cronbach's alpha for selected items was 0.83. The correlation coefficient between B-MEPS index and catastrophizing was r = 0.37 (P < 0.01). A hierarchical regression model evidenced that the B-MEPS index was a factor independent to predict MIAPP after an abdominal hysterectomy [odds ratio (OR)=1.20, confidence interval (CI) 95% 1.05-1.43).Conclusions: The B-MEPS index presents satisfactory psychometric evaluations based on its internal consistency, convergent, and discriminant validity. The B-MEPS is a propensity index to MIAPP, which might help the clinician to decide on the best therapeutic approaches for acute postoperative pain. [ABSTRACT FROM AUTHOR]

Background: Type 1 diabetes (T1D) management is challenging for young adults, who are expected to transfer from the pediatric to adult T1D healthcare system while also managing typical developmental demands (e.g., social, financial, work/school, residential). Many young adults have extended gaps in care before following up in adult care, increasing risk for poor health outcomes. There are few evidence-based programs to support young adults with T1D to promote a timelier transition during this period. This paper reports on the design of DiaBetter Together, a randomized controlled trial to evaluate a 12-month Peer Mentor-delivered intervention compared to usual care among young adults with T1D during the transfer from pediatric to adult care., Methods: One-hundred young adults (age 17-25) with T1D and 29 Peer Mentors enrolled in this randomized clinical trial. Peer Mentors are experienced, older young adults with T1D, trained by the study team to share transition experiences and strategies to successfully navigate the adult healthcare system, help young adults prepare for the first adult care visit, and use strengths-based support strategies to teach and model skills for managing T1D-related challenges., Results: The primary outcome of the trial is HbA1c, and secondary outcomes include time to adult care, engagement in diabetes self-management behaviors, and psychosocial well-being., Conclusion: The goal of this research is to evaluate a developmentally appropriate, supportive intervention that can improve T1D self-management and successful transfer of care during the difficult young adult years and promote optimal T1D health outcomes., 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 © 2024. Published by Elsevier Inc.)

Objective: Although disparities have been described in epilepsy care, their contribution to status epilepticus (SE) and associated outcomes remains understudied., Methods: We used the 2010-2019 National Inpatient Sample to identify SE hospitalizations using International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM)/ICD-10-CM codes. SE prevalence was stratified by demographics. Logistic regression was used to assess factors associated with electroencephalographic (EEG) monitoring, intubation, tracheostomy, gastrostomy, and mortality., Results: There were 486 861 SE hospitalizations (2010-2019), primarily at urban teaching hospitals (71.3%). SE prevalence per 10 000 admissions was 27.3 for non-Hispanic (NH)-Blacks, 16.1 for NH-Others, 15.8 for Hispanics, and 13.7 for NH-Whites (p < .01). SE prevalence was higher in the lowest (18.7) compared to highest income quartile (18.7 vs. 14, p < .01). Older age was associated with intubation, tracheostomy, gastrostomy, and in-hospital mortality. Those ≥80 years old had the highest odds of intubation (odds ratio [OR] = 1.5, 95% confidence interval [CI] = 1.43-1.58), tracheostomy (OR = 2, 95% CI = 1.75-2.27), gastrostomy (OR = 3.37, 95% CI = 2.97-3.83), and in-hospital mortality (OR = 6.51, 95% CI = 5.95-7.13). Minority populations (NH-Black, NH-Other, and Hispanic) had higher odds of tracheostomy and gastrostomy compared to NH-White populations. NH-Black people had the highest odds of tracheostomy (OR = 1.7, 95% CI = 1.57-1.86) and gastrostomy (OR = 1.78, 95% CI = 1.65-1.92). The odds of receiving EEG monitoring rose progressively with higher income quartile (OR = 1.47, 95% CI = 1.34-1.62 for the highest income quartile) and was higher for those in urban teaching compared to rural hospitals (OR = 12.72, 95% CI = 8.92-18.14). Odds of mortality were lower (compared to NH-Whites) in NH-Blacks (OR = .71, 95% CI = .67-.75), Hispanics (OR = .82, 95% CI = .76-.89), and those in the highest income quartiles (OR = .9, 95% CI = .84-.97)., Significance: Disparities exist in SE prevalence, tracheostomy, and gastrostomy utilization across age, race/ethnicity, and income. Older age and lower income are also associated with mortality. Access to EEG monitoring is modulated by income and urban teaching hospital status. Older adults, racial/ethnic minorities, and populations of lower income or rural location may represent vulnerable populations meriting increased attention to improve health outcomes and reduce disparities., (© 2024 International League Against Epilepsy.)

Brazil was one of the countries most affected during the first year of the COVID-19 pandemic, in a pre-vaccine era, and mathematical and statistical models were used in decision-making and public policies to mitigate and suppress SARS-CoV-2 dispersion. In this article, we intend to overview the modeling for COVID-19 in Brazil, focusing on the first 18 months of the pandemic. We conducted a scoping review and searched for studies on infectious disease modeling methods in peer-reviewed journals and gray literature, published between January 01, 2020, and June 2, 2021, reporting real-world or scenario-based COVID-19 modeling for Brazil. We included 81 studies, most corresponding to published articles produced in Brazilian institutions. The models were dynamic and deterministic in the majority. The predominant model type was compartmental, but other models were also found. The main modeling objectives were to analyze epidemiological scenarios (testing interventions' effectiveness) and to project short and long-term predictions, while few articles performed economic impact analysis. Estimations of the R0 and transmission rates or projections regarding the course of the epidemic figured as major, especially at the beginning of the crisis. However, several other outputs were forecasted, such as the isolation/quarantine effect on transmission, hospital facilities required, secondary cases caused by infected children, and the economic effects of the pandemic. This study reveals numerous articles with shared objectives and similar methods and data sources. We observed a deficiency in addressing social inequities in the Brazilian context within the utilized models, which may also be expected in several low- and middle-income countries with significant social disparities. We conclude that the models were of great relevance in the pandemic scenario of COVID-19. Nevertheless, efforts could be better planned and executed with improved institutional organization, dialogue among research groups, increased interaction between modelers and epidemiologists, and establishment of a sustainable cooperation network., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2023 Berg de Almeida et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Conditional gene regulation in Drosophila through binary expression systems like the LexA-LexAop system provides a superb tool for investigating gene and tissue function. To increase the availability of defined LexA enhancer trap insertions, we present molecular, genetic, and tissue expression studies of 301 novel Stan-X LexA enhancer traps derived from mobilization of the index SX4 line. This includes insertions into distinct loci on the X, II, and III chromosomes that were not previously associated with enhancer traps or targeted LexA constructs, an insertion into ptc, and seventeen insertions into natural transposons. A subset of enhancer traps was expressed in CNS neurons known to produce and secrete insulin, an essential regulator of growth, development, and metabolism. Fly lines described here were generated and characterized through studies by students and teachers in an international network of genetics classes at public, independent high schools, and universities serving a diversity of students, including those underrepresented in science. Thus, a unique partnership between secondary schools and university-based programs has produced and characterized novel resources in Drosophila, establishing instructional paradigms devoted to unscripted experimental science., Competing Interests: Conflicts of interest statement The author(s) declare no conflict of interest., (© The Author(s) 2023. Published by Oxford University Press on behalf of The Genetics Society of America.)

Purpose: The recognition of the Brazilian Sign Language (Libras) as the official language of the Brazilian deaf, in 2002, reaffirms the linguistic and cultural particularities of the deaf population. Therefore, there is a lack of a validated instrument for assessing the Quality of Life of deaf people using Libras. With authorization from the World Health Organization (WHO), a version of the WHOQOL-Bref in Libras was developed, called WHOQOL-Bref/Libras. However, its psychometric properties have not been examined as yet. Therefore, the purpose of this work is to perform the psychometric validation of the WHOQOL-Bref/Libras., Methods: WHOQOL-Bref/Libras and a sociodemographic questionnaire were applied to 311 deaf people from the five Brazilian regions. To assess temporal stability, the questionnaire was readministered to 52 deaf people, over an interval of 2 weeks., Results: WHOQOL-Bref/Libras demonstrated satisfactory psychometric values for reliability, discriminant and construct validity, temporal stability, and internal consistency. Cronbach's alpha coefficient showed satisfactory values for each of the WHOQOL-Bref domains: Physical health (0.641), Psychological (0.705), Environment (0.710), and Overall-Bref domains (0.873). The WHOQOL-Bref/Libras is the appropriate option to assess the quality of life of deaf people who communicate through Libras., Conclusion: WHOQOL-Bref/Libras had a satisfactory psychometric performance; therefore, it is a valid option that will provide autonomous participation for the deaf in quality of life investigations.

The aim of the study was to compare motor action variables of judo combat phases and technical biomechanical assessment of the seven weight categories. The sample was composed of 638 bouts (176 of extra lightweight <66 kg, 289 of half lightweight 66 > 73 kg, 180 of lightweight 73 > 81 kg, 244 of half middleweight 81 > 90 kg, 174 of middleweight 81 > 90 kg, 151 of half heavyweight 90 > 100 kg and 142 of heavyweight >100 kg) during motor actions of approach, gripping, attack, defense and groundwork combat phases, verifying the interactions between them by Markov chains and comparisons by Kruskall-Wallis and Dunn post hoc tests (p ≤ .05). The results demonstrated that lighter weight categories showed higher approach phases than the heavyweight category, and the lightweight group demonstrated higher defensive action frequencies than the half lightweight category and heavyweight athletes. Heavyweight and middleweight categories demonstrated higher groundwork combat frequencies than lighter weights, and the heavyweight category showed higher pause frequencies than the lightweight category. Regarding the decision-making model, the main transitions presented by the Markov chains showed higher prevalence of the following combinations: gripping occurring before the lever and length attacks, lever attack followed by the length attack, and length attack occurring earlier than the groundwork phase., (© 2020 Dany Alexis Sobarzo Soto, Esteban Aedo-Muñoz, Ciro José Brito, Suzi Camey, Bianca Miarka, published by Sciendo.)

The present study aimed to compare pacing and decision making of athletes competing in judo, with particular attention paid to effort-pause ratios occurring in the championship phases of the Olympic Games and non-Olympic Games. The sample was composed of 53,403 sequential actions analyzed during 611 performances of the non-Olympic Games (eliminatory n = 330, quarterfinals n = 60, semi-final n = 88, repechage n = 21, third place playoff n = 26, and final n = 79) and 163 from the Olympic Games (eliminatory n = 71, quarterfinals n = 13, semi-final n = 26, repechage n = 20, third place playoff n = 24, and final n = 14). The analysis of effort-pause ratios included separating bouts into states of approach, gripping, attack, groundwork and pause, according to frequency and time. A Markov multi-state model and analysis of variance were applied (p ≤ 0.05). Approach time presented differences of the eliminatory Olympic Games (7.3 ± 3.2 s) versus final non-Olympic Games (6.0 ± 2.2s), and the third place playoff Olympic Games (8.1 ± 2.3 s) versus semi-final (6.2 ± 2.4 s) and third place playoff (5.9 ± 2.1 s) of the non-Olympic Games, and the semi-final Olympic Games (8.6 ± 2.3 s) versus eliminatory (6.5 ± 2.3 s), quarter-finals (6.5 ± 1.7 s), semi-final (6.2 ± 2.4 s), repechage (6.2 ± 2.2 s), third place playoff (5.9 ± 2.1 s), and final (6.0 ± 2.0 s) of the non-Olympic Games. Pause time presented differences of the semi-final Olympic Games (6.8 ± 2.1 s) versus eliminatory (5.1 ± 3.1 s). The present data suggest a focus on pacing strategy during championship phases, which mimic the requirements of judo combats.

[This corrects the article DOI: 10.1371/journal.pone.0187630.].

Introduction: Studies have shown that T2DM is an inflammatory disease. Thus, the present study was aimed at evaluating whether diacerein could improve the metabolic and inflammatory profile among patients with T2DM under long-term treatment with glucose-lowering agents., Methods: This is a double-blind, parallel, placebo-controlled trial with 72 participants randomly assigned to diacerein 50 mg or placebo for 12 weeks. The primary endpoint was the between-group difference in change in HbA1c. Secondary endpoints included the proportion of patients achieving metabolic control [HbA1c ≤ 7.0% (53 mmol/mol)] and change in inflammatory mediators., Results: Participants in the diacerein group had greater reductions in mean HbA1c level in comparison to placebo (-0.98; 95% CI: -2.02 to 0.05, P = 0.06), independently of confounding factors. The difference in HbA1c level was -1.3 (95% CI: -2.3 to -0.4) in favor of diacerein ( P = 0.007) in those with <14 years of diabetes duration versus 0.05 (-0.7 to 0.8; P = 0.9) in those with longer duration. The diacerein group had a 50% increase in the number of participants at the lowest TNF- α level (≤1.46 pg/mL)., Conclusions: In patients with long-established T2DM under long-term treatment with glucose-lowering agents, diacerein improves metabolic control as measured by HbA1c level and has a favorable impact on inflammatory profile., Clinical Trial Registry: This trial is registered with Brazilian Clinical Trials Registry (ReBEC) number RBR-29j956.

Background: Germline pathogenic variants in BRCA1 and BRCA2 (BRCA) are the main cause of Hereditary Breast and Ovarian Cancer syndrome (HBOC)., Methods: In this study we evaluated the mutational profile and prevalence of BRCA pathogenic/likely pathogenic variants among probands fulfilling the NCCN HBOC testing criteria. We characterized the clinical profile of these individuals and explored the performance of international testing criteria., Results: A pathogenic/likely pathogenic variant was detected in 19.1% of 418 probands, including seven novel frameshift variants. Variants of uncertain significance were found in 5.7% of individuals. We evaluated 50 testing criteria and mutation probability algorithms. There was a significant odds-ratio (OR) for mutation prediction (p ≤ 0.05) for 25 criteria; 14 of these had p ≤ 0.001. Using a cutoff point of four criteria, the sensitivity is 83.8%, and the specificity is 53.5% for being a carrier. The prevalence of pathogenic/likely pathogenic variants for each criterion ranged from 22.1% to 55.6%, and criteria with the highest ORs were those related to triple-negative breast cancer or ovarian cancer., Conclusions: This is the largest study of comprehensive BRCA testing among Brazilians to date, and the first to analyze clinical criteria for genetic testing. Several criteria that are not included in the NCCN achieved a higher predictive value. Identification of the most informative criteria for each population will assist in the development of a rational approach to genetic testing, and will enable the prioritization of high-risk individuals as a first step towards offering testing in low-income countries.

Objectives: Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a polyglutamine disorder with no current disease-modifying treatment. Conformational changes in mutant ataxin-3 trigger different pathogenic cascades, including reactive oxygen species (ROS) generation; however, the clinical relevance of oxidative stress elements as peripheral biomarkers of SCA3/MJD remains unknown. We aimed to evaluate ROS production and antioxidant defense capacity in symptomatic and presymptomatic SCA3/MJD individuals and correlate these markers with clinical and molecular data with the goal of assessing their properties as disease biomarkers., Methods: Molecularly confirmed SCA3/MJD carriers and controls were included in an exploratory case-control study. Serum ROS, measured by 2',7'-dichlorofluorescein diacetate (DCFH-DA) as well as superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) antioxidant enzyme activities, levels were assessed., Results: Fifty-eight early/moderate stage symptomatic SCA3/MJD, 12 presymptomatic SCA3/MJD, and 47 control individuals were assessed. The DCFH-DA levels in the symptomatic group were 152.82 nmol/mg of protein [95% confidence interval (CI), 82.57-223.08, p  < 0.001] higher than in the control and 243.80 nmol/mg of protein (95% CI, 130.64-356.96, p  < 0.001) higher than in the presymptomatic group. The SOD activity in the symptomatic group was 3 U/mg of protein (95% CI, 0.015-6.00, p  = 0.048) lower than in the presymptomatic group. The GSH-Px activity in the symptomatic group was 13.96 U/mg of protein (95% CI, 5.90-22.03, p  < 0.001) lower than in the control group and 20.52 U/mg of protein (95% CI, 6.79-34.24, p  < 0.001) lower than in the presymptomatic group and was inversely correlated with the neurological examination score for spinocerebellar ataxias ( R  = -0.309, p  = 0.049)., Conclusion: Early/moderate stage SCA3/MJD patients presented a decreased antioxidant capacity and increased ROS generation. GSH-Px activity was the most promising oxidative stress disease biomarker in SCA3/MJD. Further longitudinal studies are necessary to identify both the roles of redox parameters in SCA3/MJD pathophysiology and as surrogate outcomes for clinical trials.

The aim of the present study is to describe the serum concentrations of a broad spectrum of cytokines in symptomatic and asymptomatic carriers of Machado Joseph disease (SCA3/MJD) CAG expansions. Molecularly confirmed carriers and controls were studied. Age at onset, disease duration, and clinical scales Scale for the Assessment and Rating of Ataxia (SARA), Neurological Examination Score for Spinocerebellar Ataxias (NESSCA), SCA Functional Index (SCAFI), and Composite Cerebellar Functional Score (CCFS) were obtained from the symptomatic carriers. Serum was obtained from all individuals and a cytokine panel "consisted of" eotaxin, granulocyte-macrophage colony-stimulating factor (GM-CSF), interferon (IFN)-α, IFN-γ, interleukin (IL)-1β, IL-1RA, IL-2, IL-2R, IL-4, IL-5, IL-6, IL-7, IL-8, IL-10, IL-12, IL-13, IL-15, IL-17, interferon gamma-induced protein (IP)-10, monocyte chemoattractant protein (MCP)-1, monokine induced by gamma interferon (MIG), macrophage inflammatory protein (MIP)-a, MIP-b, regulated on activation, normal T cell expressed and secreted (RANTES) and tumor necrosis factor (TNF)-α was analyzed. In a subgroup of symptomatic carriers, the cytokine panel was repeated after 360 days. Cytokine distribution among groups was studied by discriminant analysis; changes in serum levels after 360 days were studied by generalized estimation equation. Sixty-six symptomatic carriers, 13 asymptomatic carriers, and 43 controls were studied. No differences in cytokine patterns were found between controls and carriers of the CAG expansions or between controls and symptomatic carriers only. In contrast, eotaxin concentrations were significantly higher in asymptomatic than in symptomatic carriers or in controls (p = 0.001, ANCOVA). Eotaxin did not correlate with age, disease duration, CAG expansion, NESSCA score, and SARA score. Among symptomatic carriers, eotaxin dropped after 360 days (p = 0.039, GEE). SCA3/MJD patients presented a benign pattern of serum cytokines. In contrast, levels of eotaxin, a peptide secreted by astrocytes, were elevated in the asymptomatic carriers, suggesting that a specific response of these cells can be related to symptom progression, in SCA3/MJD.

Miarka, B, Vecchio, FBD, Camey, S, and Amtmann, JA. Comparisons: technical-tactical and time-motion analysis of mixed martial arts by outcomes. J Strength Cond Res 30(7): 1975-1984, 2016-The aim of this study was to compare time-motion and technical-tactical analysis between paired outcomes and rounds of mixed martial arts (MMA) matches. The sample consisted of 645 rounds of MMA competition paired by outcomes (first round, winners n = 215 and losers n = 215; second round, winners n = 215 and losers n = 215; third round, winners n = 215 and losers n = 215). The time-motion variables were categorized into low-intensity or high-intensity, stand-up or groundwork situations. Stand-up techniques were analyzed by observing total strikes to the head and body, and takedowns. The actions on the ground were analyzed by observing submission activity, including successful choking and joint locking actions, and also positional improvements, including advances to the mount, half guard, and side and back positions. Chi-squared and Wilcoxon tests were conducted with a significance level of p ≤ 0.05. Results showed that winners had higher values for total strikes and submissions in all rounds, and also positional improvements, over losers. The standing combat with low-intensity comparisons presented differences between the rounds first, with a median of 2:33.5 (P25-P75%: 1:20-3:56) minute, second, with 2:37 (1:24-3:59) minute, and third, with 2:07 (1:06-3:39.2) minute. These data suggest a focus on the intermittent demand presented in combat phases with a special attention to the strike and ground technical-tactical skills; strength and conditioning coaches could emphasize the effort pause ratios for both standing and ground combat that mimic the requirements of MMA, especially during the third round.

Background: Most EQ-5D-3L valuation studies include the same sample of health states that was used in the protocol of the original UK Measurement and Valuation of Health (MVH) study. Thus far, no studies using a time tradeoff utility elicitation method have been carried out using all 243 EQ-5D health states. Because the values and preferences regarding health outcomes differ among countries, it is essential to have country-specific data to enable local high-level decisions regarding resource allocation. This study developed a country-specific set of values for EQ-5D-3L health states., Methods: A multicentric study was conducted in 4 Brazilian areas. A probabilistic sample of the general population, aged 18 to 64 y, stratified by age and gender, was surveyed. The interview followed a revised version of the MVH protocol, in which all 243 health states were valued. Each respondent ranked and valued 7 health states using the TTO in a home interview., Results: Data were collected from 9148 subjects. The best-fitting regression model was an individual-level mixed-effects model without any interaction terms. The dimensions "Mobility" and "Usual Activities" were associated with higher losses in health state utility value. The "Anxiety/Depression" dimension was the domain that contributed to lower losses in health state utility value., Conclusions: This study generated significant insight into the Brazilian population's health preferences that can be applied to health technology assessment and economic analyses in Brazil. This information represents an important new tool that can be used in Brazilian health policy creation and evaluation., (© The Author(s) 2015.)

Background: In a recent phase 2 clinical trial in spinocerebellar ataxia type 3/Machado Joseph disease (SCA3/MJD), a neurogenetic disorder without specific therapy, benefits of lithium carbonate were found only on secondary efficacy outcomes, all related to ataxic features. In order to help designing future studies, we further analyzed the trial data searching for treatment response modifiers and metric properties of spinocerebellar ataxia (SCA) scales., Methods: Efficacy analysis was performed with the Neurological Examination Score for the Assessment of Spinocerebellar Ataxia (NESSCA) and the Scale for the Assessment and Rating of Ataxia (SARA) subscores and with the subgroup of patients with independent gait according to the 8-meter walking-time (8MW). Interactions of clinical/molecular findings with treatment response, minimally important differences (MIDs), and sample size estimations for NESSCA, SARA, Spinocerebellar Ataxia Functional Index (SCAFI) and Composite Cerebellar Functional Score (CCFS) were evaluated., Results: 62 SCA3/MJD patients had been randomly assigned (1:1) for the double-blind, placebo-controlled trial. While cerebellar NESSCA (range: 0-7 points) differed between groups 0.64 points (95% CI 0.23 to 1.05, p<0.001) over the whole 48weeks of study, favoring lithium, no effect was found on non-ataxia subscores. Among patients able to perform the 8MW on baseline, NESSCA (p=0.010) and SCAFI (p=0.015) differed between groups favoring lithium. Finally, estimated sample sizes for the scales were provided., Conclusion: Lithium efficacy on cerebellar NESSCA, and on SCAFI and CCFS in the primary analysis, together with the lack of effect on non-ataxia features suggests that lithium should be tested in phase 3 trials in SCA3/MJD and that ataxia scales should be preferred to multisystem neurological instruments as the primary outcome. The inclusion of early stage patients is advisable in future clinical trials in SCA3/MJD., Trial Registration: clinicaltrials.gov identifier: NCT01096082., (Copyright © 2015 Elsevier B.V. All rights reserved.)

Chronic Hepatitis B (HB) is the main risk factor for chronic liver disease (CLD) and hepatocellular carcinoma (HCC) in many low-resource countries, where diagnosis is constrained by lack of clinical, histopathological and biomarker resources. We have used proteomics to detect plasma biomarkers that outperform α-Fetoprotein (AFP), the most widely used biomarker for HCC diagnosis in low-resource contexts. Deep-plasma proteome analysis was performed in HCC patients, patients with CLD and in HB-carrier controls from Thailand (South-East Asia) and The Gambia (West-Africa). Mass spectrometry profiling identified latent-transforming growth factor β binding-protein 2 (LTBP2) and Osteopontin (OPN) as being significantly elevated in HCC versus CLD and controls. These two proteins were further analyzed by ELISA in a total of 684 plasma samples, including 183 HCC, 274 CLD and 227 asymptomatic controls. When combined, LTBP2 and OPN showed an area under the receiver operating curve of 0.85 in distinguishing HCC from CLD in subjects with AFP <20 ng/mL. In a prospective cohort of 115 CLD patients from Korea, increased plasma levels of LTBP2 and/or OPN were detected in plasma collected over 2 years prior to diagnosis in 21 subjects who developed HCC. Thus, the combination of LTBP2 and OPN outperformed AFP for diagnosis and prediction of HCC and may therefore improve biomarker-based detection of HBV-related HCC., (© 2014 UICC.)

The purpose of this study was to evaluate the association between apolipoprotein E (APOE) allelic frequency, serum lipoproteins and breast cancer (BC). We conducted a nested case-control study within a cohort including 47 cases and 165 controls. Polymerase chain reaction-restriction fragment length polymorphism analyses of the APOE polymorphism were performed. In general, participants with the genotype including alleles e2 and e3 tended to have lower serum triglycerides, total cholesterol and low-density lipoprotein cholesterol levels and higher high-density lipoprotein (HDL) cholesterol levels compared to participants homozygous for the e3 allele and participants heterozygous for the e3 and e4 alleles, respectively. BC patients exhibited higher mean levels of total serum cholesterol (P=0.070), dietary fat intake (P=0.020) and dietary cholesterol intake (P=0.017) compared to control subjects. The allelic distribution between the two groups revealed that the presence of the e2 allele was positively associated with the absence of BC, whereas the e4 allele was positively associated with the BC case group (P=0.019). The distribution of the APOE genotypes was not significantly different between cases and controls (P=0.172). The concomitant presence of the e2 and e4 alleles was positively associated with the absence of BC and e4/e4 homozygosity was positively associated with BC (P=0.021). Our findings suggested that APOE polymorphism plays an important role in the development of BC, particularly when associated with higher serum triglyceride levels.

This study investigated the association between dietary pattern and hypertension using the rank reduced regression (RRR). It was a cross-sectional population-based study with a representative sample of 1,026 women living in the city of São Leopoldo, Rio Grande do Sul State, Brazil. In order to identify dietary patterns, dietary variables from a dietary frequency questionnaire were used as predictors and sodium, potassium and saturated fat consumption were selected as response variables. The RRR identified three dietary patterns: Factor 1, Factor 2 and Factor 3. The association between hypertension and factors 1, 2 and 3, after adjustment for socio-demographic, behavioral and obesity variables, was not significant. After stratification by age, the association between hypertension and factor 2 was present in 40-60 year-old women (tertile 2 compared to 3 RP = 0.62, 95%CI: 0.43-0.91; p = 0,05). The new statistical method (RRR), proved to be a useful tool for identifying dietary patterns. In this study, healthier dietary pattern was directly associated with hypertension in women between 40 and 60 years of age.

Background: Hepatocellular Carcinoma is the third most common cause of cancer related death worldwide, often diagnosed by measuring serum AFP; a poor performance stand-alone biomarker. With the aim of improving on this, our study focuses on plasma proteins identified by Mass Spectrometry in order to investigate and validate differences seen in the respective proteomes of controls and subjects with LC and HCC., Methods: Mass Spectrometry analysis using liquid chromatography electro spray ionization quadrupole time-of-flight was conducted on 339 subjects using a pooled expression profiling approach. ELISA assays were performed on four significantly differentially expressed proteins to validate their expression profiles in subjects from the Gambia and a pilot group from Nigeria. Results from this were collated for statistical multiplexing using logistic regression analysis., Results: Twenty-six proteins were identified as differentially expressed between the three subject groups. Direct measurements of four; hemopexin, alpha-1-antitrypsin, apolipoprotein A1 and complement component 3 confirmed their change in abundance in LC and HCC versus control patients. These trends were independently replicated in the pilot validation subjects from Nigeria. The statistical multiplexing of these proteins demonstrated performance comparable to or greater than ALT in identifying liver cirrhosis or carcinogenesis. This exercise also proposed preliminary cut offs with achievable sensitivity, specificity and AUC statistics greater than reported AFP averages., Conclusions: The validated changes of expression in these proteins have the potential for development into high-performance tests usable in the diagnosis and or monitoring of HCC and LC patients. The identification of sustained expression trends strengthens the suggestion of these four proteins as worthy candidates for further investigation in the context of liver disease. The statistical combinations also provide a novel inroad of analyses able to propose definitive cut-offs and combinations for evaluation of performance.

The assessment of the relationship between food intake and sociodemographic factors is crucial for developing effective public health policies. The present study aimed to examine dietary patterns in pregnant women and the association between these patterns and sociodemographic characteristics. Pregnant women attending general practices in southern Brazil (n = 712) answered a questionnaire and a food-frequency questionnaire with 88 items. Three dietary patterns were identified using cluster analysis. The association between the dietary patterns and sociodemographic variables was analyzed using the chi-square test and adjusted standardized residuals (p < 0,05). The restricted pattern was associated with lower maternal age, not living with a partner and being a non-working student. The varied pattern was associated with older maternal age, living with a partner, being employed and higher levels of education and income. The common-Brazilian dietary pattern included traditional Brazilian food items and was associated with lower levels of education and income, being unemployed and being a non-student.

Background: The study of gene-environment interactions (G × E) is one of the most promising strategies to uncover the origins of mental disorders. Replication of initial findings, however, is essential because there is a strong possibility of publication bias in the literature. In addition, there is a scarcity of research on the topic originated from low- and middle-income countries (LMIC). The aim of this study was to replicate G × E hypotheses for externalizing problems among adolescents in a middle-income country., Methods: As part of the Pelotas 1993 Birth Cohort Study, 5,249 children were enrolled at birth and followed up to the age of 15 years, with an 85.7% retention rate. We sought an interaction between the homozygosity of the 10-repeat allele at the dopamine transporter (DAT1) gene and prenatal maternal smoking in the development of hyperactivity problems during adolescence assessed by the Strengths and Difficulties Questionnaire. We also tested for an interaction between the uVNTR polymorphism at the monoamine oxidase A (MAOA) and the experience of childhood maltreatment in the occurrence of conduct problems among adolescent boys., Results: Although there was a clear association between prenatal maternal smoking and hyperactivity scores in adolescence (p < 0.001), no main genetic or interaction effects for the DAT1 gene were detected. Similarly, childhood maltreatment showed to be associated with conduct problems among boys (p < 0.001), with no observable main genetic or interaction effects for the MAOA gene., Conclusions: In the largest mental health G × E study performed in a LMIC to date, we did not replicate previous positive findings from the literature. Despite the presence of main environmental effects, there was no evidence of effect modification by genotype status. Additional replication efforts to measure G × E are needed to better understand the origins of mental health and illness, especially in LMIC., (© 2012 The Authors. Journal of Child Psychology and Psychiatry © 2012 Association for Child and Adolescent Mental Health.)

Objective. To adapt and evaluate the psychometric properties of the Brazilian version of the SCHFI v 6.2. Methods. With the approval of the original author, we conducted a complete cross-cultural adaptation of the instrument (translation, synthesis, back translation, synthesis of back translation, expert committee review, and pretesting). The adapted version was named Brazilian version of the self-care of heart failure index v 6.2. The psychometric properties assessed were face validity and content validity (by expert committee review), construct validity (convergent validity and confirmatory factor analysis), and reliability. Results. Face validity and content validity were indicative of semantic, idiomatic, experimental, and conceptual equivalence. Convergent validity was demonstrated by a significant though moderate correlation (r = -0.51) on comparison with equivalent question scores of the previously validated Brazilian European heart failure self-care behavior scale. Confirmatory factor analysis supported the original three-factor model as having the best fit, although similar results were obtained for inadequate fit indices. The reliability of the instrument, as expressed by Cronbach's alpha, was 0.40, 0.82, and 0.93 for the self-care maintenance, self-care management, and self-care confidence scales, respectively. Conclusion. The SCHFI v 6.2 was successfully adapted for use in Brazil. Nevertheless, further studies should be carried out to improve its psychometric properties.

The objective was to evaluate the metabolic and vascular effects of lifestyle interventions involving a healthy diet and either a moderate- or a high-intensity exercise regimen in nondiabetic subjects with metabolic syndrome. The effects of these interventions on flow-mediated vasodilation (FMD) and risk profiles were compared with a standard low-fat diet and engaging in daily walking (standard of care). Seventy-five healthy adults with metabolic syndrome (30-55 years old) were randomized to a 10,000-steps-a-day exercise program, a 3-times-a-week fitness (>75% peak VO(2)) program, or a 1-hour-walking-a-day program for 12 weeks. The first 2 interventions were combined with an accessible healthy, no-sugar diet; and the third was combined with a tailored low-fat diet. The outcomes, including FMD and risk factors, were examined at 12 weeks and at 1-year reassessment. Significant increase in FMD (mean difference = 1.51%, 95% confidence interval = 1.05%-3.017%, P = .0007) and decrease in arterial pressure (mean difference = 19.3 ± 2.3/-12.6 ± 1.8 mm Hg, P = .0001) were observed in all groups. However, the FMD changed most favorably in the high-intensity, low-sugar group (mean difference = 1.56%, 95% confidence interval = 0.1%-3.02%, P = .036). Significant improvements in body mass index, waist, insulin-like growth factor-1, homeostasis model assessment of insulin resistance, insulin, glucose, urinary albumin excretion, and lipid profiles occurred in all groups. Metabolic syndrome was resolved in 64%. One year later, weight loss (-9.1 ± 2.3 kg, P = .0001) and arterial pressure decrease (-18.5 ± 2.3/-12.3 ± 2.1 mm Hg, P = .0001) were maintained. Practical, health-centered diet combined with high-intensity exercise is associated with enhanced vascular protection. These data suggest that more intense exercise combined with a low-sugar diet modulates endothelium-dependent vasodilation., (Copyright © 2011 Elsevier Inc. All rights reserved.)

Research has demonstrated impairments in executive functions in Bipolar Mood Disorder patients. Evidence shows that this impairment is present in both periods of active symptoms of the disorder, as well as euthymic stages, and is compounded by mood episodes, especially manic phases. The purpose of this study was to compare the executive performance of a sample of Brazilian bipolar patients in depressive episodes, (44 participants), euthymia (37 participants), and in controls (43 participants). The main instrument for evaluation was the Wisconsin Card Sorting Test. Significant differences were found in performance on the Wisconsin Card Sorting Test between Bipolar subjects (Type I) (both in depression and euthymia) and the controls. No significant correlations were found between the number of manic episodes and the performance on execute measurement variables. The findings suggest that the executive dysfunctions in Bipolar Disorder may be related to both transitory and permanent deficits.

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.

Background: Violence against pregnant women is an increasing public health concern. The purpose of this study is to estimate the prevalence of violence during pregnancy, to identify characteristics associated and to assess the impact of violence on newborn outcomes., Methods: Prospective cohort study of 652 pregnant women attending primary care clinics in Southern Brazil, from June 2006 to September 2007. Women with gestational age ranging from 16th and 36th were enrolled and their exposure to violence and mental disorder was assessed. After the birth they were contacted by telephone when information on obstetric and neonatal outcomes was obtained., Results: Any violence during current pregnancy was reported by 18.3% [95% confidence interval (CI) 15.3-21.4%] participants, 15.0% (95% CI 12.3-17.8%) psychological violence, 6% (95% CI 4.2-7.8%) physical violence and 3% (0-0.5%) sexual violence. These women were more often of low income, did not work or study and had inadequate prenatal care and pregnancy weight gain. There was a statistically significant crude association between exposure to physical and psychological violence [relative risk (RR) 3.21 (1.51-6.80)]. After adjustment for family income, number of prenatal visits, length of gestation and gestational weight gain, the effect size decreased, but remained statistically significant (RR 2.18; 95% CI 1.16-4.08%)., Conclusion: In disadvantaged settings in Brazil, violence in pregnancy is frequent; it is associated with inadequate maternal weight gain during pregnancy and prenatal care, and increases risk of low birth-weight. Thus, violence in pregnancy imposes a challenge to effective prenatal care delivery with potential benefits to the mother and her baby.

The aim of the present study was to introduce Focused Principal Component Analysis (FPCA) as a novel exploratory method for providing insight into dietary patterns that emerge based on a given characteristic of the sample. To demonstrate the use of FPCA, we used a database of 1,968 adults. Food intake was obtained using a food frequency questionnaire covering 26 food items. The focus variables used for analysis were age, income, and schooling. All analyses were carried out using R software. The graphs generated show evidence of socioeconomic inequities in dietary patterns. Intake of whole-wheat foods, fruit, and vegetables was positively correlated with income and schooling, whereas for refined cereals, animal fats (lard), and white bread this correlation was negative. Age was inversely associated with intake of fast-food and processed foods and directly associated with a pattern that included fruit, green salads, and other vegetables. In an easy and direct fashion, FPCA allowed us to visualize dietary patterns based on a given focus variable.

Aim: To estimate the prevalence of violence, depressive symptoms, and associated factors during pregnancy in women attending antenatal care in Brazil., Methods: Violence was assessed using a modified version of the abuse assessment screen (ASS), and depressive symptoms were evaluated using the primary care evaluation of mental disorders (PRIME-MD). Participants were pregnant women attending 18 primary care units in Rio Grande do Sul, Brazil, between June 2006 and April 2007. A total of 712 pregnant women participated, but only 627 of them responded the ASS., Results: Experience of any lifetime violence was reported by 273 (43.4%) women and 114 (18.2%) reported violence during the current pregnancy. One-third of them (n = 211) reported lifetime domestic violence and 100 (15.9%) women reported this type of violence during the current pregnancy. Experience of domestic violence during pregnancy was more common in unemployed women, among those with two or more children, with a higher consumption of alcohol, and who had not planned their current pregnancy. Of the total of sample (n = 712), 198 (27.8%) women reported six or more depressive symptoms. The presence of depressive symptoms during pregnancy was associated with low educational levels, living in a household with five or more people, and with higher consumption of alcohol during pregnancy., Conclusion: Pregnant women attending primary care are exposed to high rates of domestic violence, and many have clinically relevant depressive symptoms. Appropriate interventions to avoid or minimize the effects of violence and mental disorders to the well-being of the mothers and their babies are urgently required. Primary care services play an important role in identifying and supporting women at risk.

Spinocerebellar ataxia 3 is an untreatable CAG repeat expansion disorder whose natural history is not completely understood. Our aims were to describe the progression of neurological manifestations in a long-term cohort of spinocerebellar ataxia 3, and to verify if CAG expanded repeat, gender, and age at onset were associated with the rate of progression. Patients entered the study between 1998 and 2005 and were seen until 2007. On each visit, the validated NESSCA scale, an inventory of 18 neurological manifestations, was applied. Scores observed in each year of disease duration produced a Growth Curve, which was analyzed through the random coefficients model. Scores obtained in some individual items were described through multi-state Markov models. One hundred fifty-six patients (78 families) were recruited; 28 were lost, and 23 died. Mean (sd) ages at onset and at baseline were 32.8 (10.6) and 40.7 (12.8) years; median (range) expanded CAGn was 74 (67-85). Three hundred fifteen NESSCA evaluations were performed, comprising disease durations from zero to 34 years. The 105 patients who completed the study were seen over 5 (sd = 2.4) years at intervals of 2.5 (sd = 1.5) years. The trajectory of NESSCA obtained for the overall group increased by 1.26 points per year. This slope increased by 0.15 points per each additional CAG in the expanded repeat (p < 0.0002) and decreased by 0.03 points per each additional year of age at onset (p = 0.005). NESSCA worsened steadily, producing linear trajectories, which were faster among patients with longer expanded repeats (>74) and with lower ages at onset (<34 years).

In order to describe adequacy of weight gain during pregnancy and its association with pre-pregnancy nutritional status and other factors, a cohort study of pregnant women enrolled at 16-36 weeks of gestation and followed up until delivery was carried out in prenatal care in primary care services in Rio Grande do Sul State, Brazil. Maternal weight was recorded at each prenatal care visit. Weight gain was classified as "adequate," "insufficient" or "excessive" (Institute of Medicine). Poisson regression was used to measure the associations. The sample was comprised of 667 women, and insufficient and excessive weight gain incidences were 25.8% and 44.8%, respectively. Overweight and obese before pregnancy had a significant increased risk of excessive weight gain in pregnancy (RR: 1.75; 95%CI: 1.48-2.07, RR: 1.55; 95%CI: 1.23-1.96, respectively). Women with fewer than six prenatal visits had a 52% increased risk for weight gain below recommended values. Although insufficient weight gain may still be a public health problem, excessive gain is becoming a concern that needs immediate attention in prenatal care.

Background: Studies on the natural history of rare, chronic diseases like spinocerebellar ataxia 3 (SCA3) are hard to be done, since patients enter the study with variable disease durations and are followed up at irregular intervals., Aims: Our purpose was to use all the available data to describe the progression of gait ataxia in a long-term cohort of patients with SCA3 through a markovian method., Materials and Methods: SCA3 patients were recruited between 1998 and 2005 and were invited to annual neurological follow-ups until 2007. Gait ataxia was described through a mean score graph and a mean trajectory graph., Results: We followed up 105 patients; at baseline, the mean age and disease duration were, 40.5 (SD = 12.6) and 7.7 (SD = 5.8) years, respectively. The mean time to reach stages 1, 2, 3 and 4 of gait ataxia were 3, 5.4, 10.8 and 19.4 years of disease duration. The mean score graph was unsmooth, showing several unlikely ups and downs. The mean trajectory graph produced a continuous curve., Conclusion: The markovian method described the natural history of gait ataxia without any a posteriori adjustment of data and allowed statistical comparisons between subgroups. This method will be useful in future clinical trials in this and in other chronic degenerative diseases., (2010 S. Karger AG, Basel.)

Objective: To examine the prevalence of inappropriate eating behaviors and associated factors among pregnant women in primary care., Method: The Eating Disorder Examination Questionnaire was used to assess eating disorders and the Primary Care Evaluation of Mental Disorders was used to examine anxiety and depressive symptoms. Body mass index (BMI) and pregestational weight were also assessed., Results: Prevalence of binge eating during pregnancy was 17.3% [95% confidence interval (CI) 14.5-20.0], followed by excessive shape (5.6%; 95% CI 4-8) and weight concerns (5.5%; 95% CI 4-8). Binge eating during pregnancy was significantly associated with binge eating before pregnancy [prevalence ratio (PR) = 3.1; 95% CI 2.2-4.3], current anxiety symptoms (PR = 1.8; 95% CI 1.3-2.4), and prepregnancy BMI < 19.8 kg/m(2) (PR = 1.6; 95% CI 1.1-2.5). The prevalence of eating disorders was 0.6% (95% CI 0.01-1.11)., Discussion: Eating disorder symptoms should be routinely assessed and treated during prenatal care, along with other comorbid psychiatric symptoms such as anxiety.

Objective: To investigate whether abnormal eating behaviors in young women could predict eating disorders after 4 years., Method: 56 women were identified as presenting abnormal eating behaviors in a cross-sectional study (Eating Attitudes Test-26 and Edinburgh Bulimic Investigation Test). They were matched for age and neighborhood to two controls (n = 112). Four years later, they were re-assessed with the two screening questionnaires plus the Composite International Diagnostic Interview (CIDI 2.1)., Results: Women with abnormal eating behaviors at baseline showed a high probability of presenting abnormal eating behaviors but it was not associated with eating disorders 4 years later. They were also at higher risk for obsessive-compulsive disorder, post-traumatic stress disorder, and specific phobia., Discussion: Abnormal eating behaviors were related to the maintenance of the disturbed behavior over the years, and were associated with increased probability for psychiatric diagnoses.

In a cross-sectional study conducted four years ago to assess the validity of the Brazilian version of the Eating Attitudes Test-26 (EAT-26) for the identification of abnormal eating behaviors in a population of young females in Southern Brazil, 56 women presented abnormal eating behavior as indicated by the EAT-26 and the Edinburgh Bulimic Investigation Test. They were each matched for age and neighborhood to two normal controls (N = 112) and were re-assessed four years later with the two screening questionnaires plus the Composite International Diagnostic Interview (CIDI). The EAT results were then compared to diagnoses originating from the CIDI. To evaluate the temporal stability of the two screening questionnaires, a test-retest design was applied to estimate kappa coefficients for individual items. Given the prevalence of eating disorders of 6.2%, the CIDI psychiatry interview was applied to 161 women. Of these, 0.6% exhibited anorexia nervosa and 5.6%, bulimia nervosa (10 positive cases). The validity coefficients of the EAT were: 40% sensitivity, 84% specificity, and 14% positive predictive value. Cronbach's coefficient was 0.75. For each EAT item, the kappa index was not higher than 0.344 and the correlation coefficient was lower than 0.488. We conclude that the EAT-26 exhibited low validity coefficients for sensitivity and positive predictive value, and showed a poor temporal stability. It is reasonable to assume that these results were not influenced by the low prevalence of eating disorders in the community. Thus, the results cast doubts on the ability of the EAT-26 test to identify cases of abnormal eating behaviors in this population.