Search

Missing data is a common issue in epidemiological databases. Among the different ways of dealing with missing data, multiple imputation has become more available in common statistical software packages. However, the incompatibility between the imputation and substantive model, which can arise when the associations between variables in the substantive model are not taken into account in the imputation models or when the substantive model is itself nonlinear, can lead to invalid inference. Aiming at analysing population-based cancer survival data, we extended the multiple imputation substantive model compatible-fully conditional specification (SMC-FCS) approach, proposed by Bartlett et al. in 2015 to accommodate excess hazard regression models. The proposed approach was compared with the standard fully conditional specification multiple imputation procedure and with the complete-case analysis using a simulation study. The SMC-FCS approach produced unbiased estimates in both scenarios tested, while the fully conditional specification produced biased estimates and poor empirical coverages probabilities. The SMC-FCS algorithm was then used for handling missing data in the evaluation of socioeconomic inequalities in survival from colorectal cancer patients diagnosed in the North Region of Portugal. The analysis using SMC-FCS showed a clearer trend in higher excess hazards for patients coming from more deprived areas. The proposed algorithm was implemented in R software and is presented as Supplementary Material.

Introduction: Psoriasis is a common, chronic, and inflammatory skin disorder with a high personal, social and economic burden and important implications for healthcare systems. The aim of this study was to provide an epidemiological characterization of individuals with psoriasis in Portugal.Material and Methods: A large observational, cross-sectional, nationwide, population-based survey study developed by the Portuguese Psoriasis Group of the Portuguese Society of Dermatology and Venereology (GPP-SPDV). A structured questionnaire was designed and applied by experienced interviewers to a random, representative sample of Portuguese individuals with psoriasis and/or psoriatic arthritis. Patients were considered to have psoriasis if they replied positively to one of the following questions: “Does any physician have ever diagnosed you with psoriasis?” or “Do you have a skin disorder characterized by scaling, reddish skin lesions located in the elbows/knees/scalp?”.Results: A total of 6381 individuals were interviewed, of which 283 met the criteria for psoriasis, corresponding to a prevalence rate of 4.4% (95% CI 3.95 – 4.98). Out of the participants that met psoriasis criteria, 24% had suggestive signs/symptoms but did not have a clinical diagnosis established and were not being monitored by a physician. Although more than 70% of participants had active disease (scaling, erythema, or pruritus) and one third had joint symptoms, only 12% were on systemic treatment. Fifty percent of participants with psoriasis (n = 139) had relevant comorbidities (most frequently depression/anxiety and cardiometabolic diseases). Sixteen percent of participants with psoriasis (n = 46) reported that psoriasis interfered with their daily activities (median impact of 5 in a 0 – 10 scale) and 12% mentioned the disease had an impact in their sexual life (median impact of 5 in a 0 – 10 scale).Conclusion: The results of this study suggest that the prevalence rate of psoriasis is likely to be high in Portugal, and several gaps exist at different levels of healthcare delivery to these patients, from diagnosis to treatment. This study provides important data for the future planning of interventions targeting the improvement of psoriasis care in Portugal.

ObjectiveTo identify factors that independently predict the risk of rehospitalisation and death after acute heart failure (AHF) hospital discharge in a real-world setting, considering death without rehospitalisation as a competing event.MethodsSingle-centre, retrospective, observational study enrolling 394 patients discharged from an index AHF hospitalisation. Overall survival was evaluated using Kaplan-Meier and Cox regression models. For the risk of rehospitalisation, survival analysis considering competing risks was performed: rehospitalisation was the event of interest, and death without rehospitalisation was the competing event.ResultsDuring the first year after discharge, 131 (33.3%) patients were rehospitalised for AHF and 67 (17.0%) died without being readmitted; the remaining 196 patients (49.7%) lived without further hospitalisations. The 1-year overall survival estimate was 0.71 (SE=0.02). After adjusting for gender, age and left ventricle ejection fraction, the results showed that the risk of death was higher in patients with dementia, higher levels of plasma creatinine (PCr), lower levels of platelet distribution width (PDW) and at Q4 of red cell distribution width (RDW). Multivariable models showed that the risk of rehospitalisation was increased in patients with atrial fibrillation, higher PCr or taking beta-blockers at discharge. Furthermore, the risk of death without AHF rehospitalisation was higher in males, those aged ≥80 years, patients with dementia or RDW at Q4 on admission (compared with Q1). Taking beta-blockers at discharge and having a higher PDW on admission reduced the risk of death without rehospitalisation.ConclusionWhen assessing rehospitalisation as a study endpoint, death without rehospitalisation should be considered a competing event in the analyses. Data from this study reveal that patients with atrial fibrillation, renal dysfunction or taking beta-blockers are more likely to be rehospitalised for AHF, while older men with dementia or high RDW are more prone to die without hospital readmission.

Objectives: To describe the changes in basic activities of daily living (BADL) function before and during hospital admission in older patients admitted to an acute medical unit and to assess the effect of age on loss of BADL function. Methods: Prospective observational study. The study included 91 patients aged 65 and older consecutively admitted to an acute medical unit of an urban public teaching hospital in Portugal, between May and September 2017. Functional status was measured at three times: at hospital admission; at about 2 weeks before hospital admission (baseline); an on the discharge day. The functional condition was evaluated using the Katz index. Differences in scores for BADL between baseline and admission, between admission and discharge, and between baseline and discharge were used to define pre-admission, in-hospital and overall functional decline. Results: Pre-admission, in-hospital and overall functional decline occurred in 78.0%, 4.4% and 63.7% of the participants, respectively. In contrast, in-hospital functional improvement occurred in a minority of the patients (14.3%). Hospitalized older people are discharged with BADL function that is worse than their baseline function. The oldest patients are at high risk of poorer functional outcomes because they are less likely to recover BADL function lost before admission. Conclusion: These results emphasize the overriding need for implementing in-hospital processes to prevent functional decline and enhance functional recovery. This study also highlights the need for nurses to closely monitor the functional status of hospitalized older people, particularly in oldest-old patients. This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.

Background Completing mortality data by information on possible socioeconomic inequalities in mortality is crucial for policy planning. The aim of this study was to build deprivation-specific life tables using the Portuguese version of the European Deprivation Index (EDI) as a measure of area-level socioeconomic deprivation, and to evaluate mortality trends between the periods 2000–2002 and 2010–2012. Methods Statistics Portugal provided the counts of deaths and population by sex, age group, calendar year and area of residence (parish). A socioeconomic deprivation level was assigned to each parish according to the quintile of their national EDI distribution. Death counts were modelled within the generalised linear model framework as a function of age, deprivation level and calendar period. Mortality Rate Ratios (MRR) were estimated to evaluate variations in mortality between deprivation groups and periods. Results Life expectancy at birth increased from 74.0 and 80.9 years in 2000–2002, for men and women, respectively, and to 77.6 and 83.8 years in 2010–2012. Yet, life expectancy at birth differed by deprivation, with, compared to least deprived population, a deficit of about 2 (men) and 1 (women) years among most deprived in the whole study period. The higher mortality experienced by most deprived groups at birth (in 2010–2012, mortality rate ratios of 1.74 and 1.29 in men and women, respectively) progressively disappeared with increasing age. Conclusions Persistent differences in mortality and life expectancy were observed according to ecological socioeconomic deprivation. These differences were larger among men and mostly marked at birth for both sexes. Electronic supplementary material The online version of this article (10.1186/s12889-019-6579-6) contains supplementary material, which is available to authorized users.

Objective Transthyretin (TTR)-related familial amyloid polyneuropathy (FAP) is an autosomal dominant neurological disease, caused most frequently by a Val30Met (now classified as Val50Met) substitution in TTR. Age at onset (AO) ranges from 19 to 82 years, and variability exists mostly between generations. Unstable oligonucleotide repeats in various genes are the mechanism behind several neurological diseases, found also to act as modifiers for other disorders. Our aim was to investigate whether large normal repeat alleles of 10 genes had a possible modifier effect in AO in Portuguese TTR-FAP Val30Met families. Methods We analyzed 329 Portuguese patients from 123 families. Repeat length (at ATXN1, ATXN2, ATXN3, ATXN7, TBP, ATN1, HTT, JPH3, AR, and DMPK) was assessed by single and multiplex polymerase chain reaction, using fluorescently labeled primers, followed by capillary electrophoresis. We used a family-centered approach, and generalized estimating equations were used to account for AO correlation between family members. Results For ATXN2, the presence of at least 1 allele longer than 22 CAGs was significantly associated with an earlier onset in TTR-FAP Val30Met, decreasing mean AO by 6 years (95% confidence interval = -8.81 to -2.19, p = 0.001). No association was found for the remaining repeat loci. Interpretation Length of normal repeats at ATXN2 may modify AO in TTR-FAP Val30Met and may function as a risk factor. This can be due to the role of ATXN2 in RNA metabolism and as a modulator of various cellular processes, including mitochondrial stress. This may have relevant implications for prognosis and the follow-up of presymptomatic carriers. ANN NEUROL 2019;85:251-258.

The aim of this work was to investigate associations between individual cow Mycobacterium avium ssp. paratuberculosis (MAP) seropositivity, 305-d corrected milk production, and somatic cell count during 5 lactations lifespan in Portuguese dairy herds using multilevel mixed models. We used MAP serum ELISA (Idexx MAP Ac, Idexx Laboratories Inc., Westbrook, ME) results (n = 23,960) from all the 20,221 adult cows present in 329 farms and corresponding 47,586 lactation records from the National Dairy Improvement Association. Cows and farms were classified as positive or negative. Multilevel mixed models were used to investigate the association of cow MAP status with variation in milk production and somatic cell count. Cow MAP status, farm status, and lactation number were considered as independent variables. A quadratic function of lactation number was used to mimic the effect of lactation order on milk production. The models considered 3 levels: measurement occasion (level 1) within cow (level 2) and cow within farm (level 3). Four final models were produced, including all herds and cows, to address the effect of farm status (models 1 and 2) or the effect of cow status (models 3 and 4) on the outcome variables. Our results show that MAP status affects milk production. Losses are detectable from third lactation onward. During the first 5 lactations, positive cows accumulated an average loss of 1,284.8 kg of milk when compared with the negative cows. We also observed that somatic cell counts were higher in positive cows and a positive interaction occurs between cow status and lactation number, suggesting a positive association between MAP infection and increased somatic cell counts. Our results are in line with previous studies, suggesting a possible positive relation between cow milk production and susceptibility to MAP infection.

Vitamin D status in human populations has become a matter of great concern, in the wake of a multitude of published works that document widespread vitamin D deficiency across Europe, even in countries with abundant sunlight. In Portugal there are no measures of 25-hydroxyvitamin D - 25(OH)D - levels in the general adult population. The purpose of this study was to measure 25(OH)D levels in a healthy population cohort and investigate the possible association with season and selected demographic and laboratory measurements. A cohort of 198 participants (18-67 years) living in the north of Portugal, Porto, conducted in July and August 2015 (summer time) and April 2016 (winter time) was studied to evaluate serum 25(OH)D levels. Sociodemographic characteristics (age, sex and body mass index) and season of the year were taken into account as possible 25(OH)D levels codeterminants. In the whole group, the mean level of serum 25(OH)D was 55.4±23.4 nmol/L, with 48% of the population presenting levels compatible with vitamin D deficiency (below 50 nmol/L). In the winter period, this value reaches 74%. No statistically significant differences were observed between genders (57.4±23.9 vs. 53.3±22.8 nmol/L, p=0.219) as well as no statistically significant correlation was found between age and 25(OH)D levels (p=0.349). As expected higher levels of 25(OH)D were observed in summer than in winter (68.2±21.5 vs. 42.2±16.9 nmol/L; p

Introduction: Pneumococcal vaccination (PV) is generally recommended for chronic respiratory patients (CRP). Data on real life compliance is scarce and heterogeneous, but usually unveils an overall low adherence to PV1. Aims: To ascertain whether PV is beneficial in the occurrence and severity of respiratory infections (RI) in CRP. Methods: We conducted a prospective cohort study of CRP that attended our pulmonary outpatient clinic from October 2017 to February 2018 and had previously participated in our survey1. A 12-month follow up of this cohort was made to evaluate the presence of RI. From those infected, Fisher’s test was used to compare the percentage of vaccinated and unvaccinated patients in the outcomes of hospitalization, use of antibiotics (AB) and death. Results: From the total of 201 in the survey, 199 patients were included in this cohort. Mainly men (59.8%), 65.4 (SD=15.2) years, 8% current smokers and 37% former smokers, 82% with low educational status. Major diagnosis were asthma (31.7%) and COPD (29.1%). PV coverage increased 15.4% in a year, currently 57·8%. Globally, 34.2% (n=68) of this cohort had any kind of RI occurring more frequently in vaccinated (41.8% v (27.5%, p=0,042) patients. Comparing both groups we found that a similar use of AB (100% v 97.8%, p=1.00), but lesser hospitalizations (37.0% v 50.0%, p=0.307) and lesser deaths (4.3% v 18.2%, p=0.081) were reported in vaccinated as opposed to unvaccinated CRP. Conclusions: In this year follow up, PV had already a beneficial impact in decreasing the severity of RI in CRP. Reference: 1. Martins RN, Vaz LR. Influenza and Pneumococcal Vaccination in Chronic Respiratory Patients-Are We in the Right Path?. Arch bronconeumol. 2019 Jan

Background: Hospitalization often leads to long periods of bed rest and inactivity which is associated with an increase in length of hospital stay, loss of capacity for basic self-care and discharge into a nursing home. Objective: This trial aims to verify if a nursing care program centered on basic self-care and predefined physical activity, improves functional outcomes in older hospitalized patients. Methods: This is a 2-group randomized controlled trial with repeated measures: 182 older acute medical patients will be blindly randomly allocated to the control group (n = 91) or intervention group (n = 91). The intervention will consist of nursing care intervention centered on basic self-care that includes a twice daily walking training, plus privileging pre-established trips to the toilet by walking and all daytime meals seated, off the bed. The main outcome was changes in the number of independent activities of daily living from 2 weeks before admission (baseline) to discharge. Trial registration: ClinicalTrials.gov (Identifier NCT03106064). Results: This intervention has the potential to change the outcomes of the older patient in the acute setting. Conclusion: The loss of independence in self-care is determinant in future health care needs. If our hypothesis is correct and demonstrate that this nursing care program centered on basic self-care for older acute medical patients improves functional outcomes, a change in the paradigmatic organization of hospital care may be justifiable. info:eu-repo/semantics/publishedVersion

The Breastfeeding Self-Efficacy Scale-Short Form is a reliable instrument to measure mother's confidence in her ability to breastfeed. The Breastfeeding Self-Efficacy Scale-Short Form has traditionally been used postnatally, but evidence suggests that it can be used antenatally to identify mothers at-risk of requiring additional support to improve breastfeeding outcomes., This research was supported by FEDER Funds through the Programa Operacional Factores de Competitividade−COMPETE and by National Funds through FCT−Fundação para a Ciência e a Tecnologia under the project: PTDC/SAU/SAP/116738/2010. This study was conducted at Psychology Research Centre (UID/PSI/01662/2013), University of Minho, and supported by the Portuguese Foundation for Science and Technology and the Portuguese Ministry of Education and Science through national funds and co-financed by FEDER through COMPETE2020 under the PT2020 Partnership Agreement (POCI-01-0145- FEDER-007653)., info:eu-repo/semantics/publishedVersion

Background: Acute illness and hospitalization are often associated with decreased independence in basic activities of daily living. The aim of this study was to test the hypothesis that a nursing care program focused on basic self-care (N_BSC) improves functional outcomes in older patients admitted to an acute medical unit. Methods: This was a 2-group randomized controlled trial with repeated measures: 182 older patients admitted to an acute medical unit were randomly allocated to the usual care group (n = 91) and intervention group (n = 91). The intervention consisted of nursing care centered on basic self-care that includes promotion of daily walking and all daytime meals seated, out of bed. The main outcome was changes in the number of independent basic activities of daily living (BADL) from 2 weeks before admission (baseline) to discharge. Results: There was significant effect of the N_BSC on the outcomes. Changes from baseline to discharge in the number of independent BADL differ significantly between the intervention and usual care group. Intervention group patients were discharged with a superior functional status than usual care group. On discharge they were able to perform independently 2.93 BADL, whereas usual care patients performed independently 1.90 BADL (P < .001). Conclusions: N_BSC for hospitalized older adults was feasible and program participants were discharged with better functional status than a clinically similar comparison group. N_BSC could be readily adapted for use in other hospitals and warrants further evaluation as a potential new tool for improving outcomes for hospitalized older patients. info:eu-repo/semantics/publishedVersion

The present study explored the role of parents' in-session and out-session involvement in CBT for anxious children. Fifty 8- to 12-year-old children with a principal DSM-IV anxiety disorder participated in a group CBT program. Parental involvement in the therapy was assessed by the clinician and the children and parents completed a standardized anxiety scale as the main therapy outcome measure, at pre- and post-intervention. In addition, the parents completed questionnaires to evaluate a number of possible correlates of parental involvement, namely, child's anxiety symptoms intensity and interference, parental beliefs about anxiety, expectancies regarding the efficacy of the intervention, and parental anxiety. The results indicated that the parents were moderately involved in the therapy and that socio-economic status and parental beliefs about anxiety were significant correlates of parental involvement. Finally, partial support was found for the idea that parents' involvement in the therapy might have a positive impact on therapy outcome.

Resumo Objetivou-se analisar a prevalência de saúde autoavaliada como ruim, segundo variáveis sociodemográficas e presença de doença crônica, em populações do Brasil e de Portugal. Foram estudados 13.894 indivíduos (≥ 30 anos) das capitais do Nordeste do Brasil (VIGITEL 2011) e 20.579 de Portugal (4o INS 2005/2006). Utilizou-se a Regressão de Poisson para as análises de associação ajustadas por covariáveis. As prevalências brutas de saúde percebida como ruim, para o Nordeste do Brasil e para Portugal, em homens, foram de 4,3% e de 15,5%. A razão de prevalência (RP) foi de 2,72 (IC95%: 2,70-2,74) após a padronização por faixa etária. Para mulheres, as prevalências foram 8,1%, para o Brasil, e 25,1%, para Portugal (RP: 2,40; IC95%: 2,39-2,42). A variável que revelou desigualdades na saúde autoavaliada como ruim, em maior intensidade, foi a escolaridade, em ambas as populações. A presença de doença teve efeito maior nos brasileiros do que nos portugueses, em ambos os sexos. As prevalências de saúde autoavaliada como ruim foram significativamente mais elevadas para Portugal, em todos os agrupamentos estudados.

Transthyretin (TTR)-related familial amyloid polyneuropathy (FAP) is an autosomal dominant neurological disease, caused most frequently by a Val30Met (now classified as Val50Met) substitution in TTR. Age at onset (AO) ranges from 19 to 82 years, and variability exists mostly between generations. Unstable oligonucleotide repeats in various genes are the mechanism behind several neurological diseases, found also to act as modifiers for other disorders. Our aim was to investigate whether large normal repeat alleles of 10 genes had a possible modifier effect in AO in Portuguese TTR-FAP Val30Met families.We analyzed 329 Portuguese patients from 123 families. Repeat length (at ATXN1, ATXN2, ATXN3, ATXN7, TBP, ATN1, HTT, JPH3, AR, and DMPK) was assessed by single and multiplex polymerase chain reaction, using fluorescently labeled primers, followed by capillary electrophoresis. We used a family-centered approach, and generalized estimating equations were used to account for AO correlation between family members.For ATXN2, the presence of at least 1 allele longer than 22 CAGs was significantly associated with an earlier onset in TTR-FAP Val30Met, decreasing mean AO by 6 years (95% confidence interval = -8.81 to -2.19, p = 0.001). No association was found for the remaining repeat loci.Length of normal repeats at ATXN2 may modify AO in TTR-FAP Val30Met and may function as a risk factor. This can be due to the role of ATXN2 in RNA metabolism and as a modulator of various cellular processes, including mitochondrial stress. This may have relevant implications for prognosis and the follow-up of presymptomatic carriers. ANN NEUROL 2019;85:251-258.

Purpose To investigate, through a spatio-temporal analysis, the association between the percentages of live births of adolescent mothers (LBAM) and the human development index (HDI), including the three components: income, education and longevity. Methods The percentage of LBAM was obtained from the Brazilian Live Births Information System for the state of Minas Gerais, Brazil in the period 2000–2015 and the HDI data and its components were obtained from United Nations Development Program’s (UNDP) Human Development Reports. A generalized additive model (GAM) was used to estimate the relative risk of LBAM in relation to the HDI and to identify spatial clusters of the geographical distribution of LBAM, the Moran global and local index was used. Results There is an association between the HDI and its components with LBAM. The high values of relative risk are spatially concentrated in the northern part of the state of Minas Gerais. The graphs indicated a nonlinear relationship between LBAM over the years. Conclusions There is a strong spatial dependence of LBAM in Minas Gerais, which suggests that a geographical location plays a fundamental role in understanding it. The regional disparity confirmed in this study is inherent in the process of human development, it is important for planning actions aimed at the development of these regions in order to minimize existing disparities.

RESUMEN Analizamos los patrones espaciales y las incidencias de cáncer en niños, niñas y adolescentes de 0 a 19 años de edad residentes en la ciudad de Campinas, al sureste de Brasil, diagnosticados entre 1996 y 2005. Se clasificaron los cánceres según los grupos de la tercera revisión de la International Classification of Childhood Cancer (ICCC-3). Se incluyeron los cuatro grupos más comunes: leucemias, linfomas, y las neoplasias del sistema nervioso central y de tejidos blandos. Se calcularon tasas de incidencia estandarizadas por edad utilizando la población mundial estándar. Se ajustó un modelo espacial de regresión jerárquica de Bayes (controlando por la heterogeneidad de los datos y la autocorrelación espacial), que asume que el número de casos sigue una distribución de Poisson. Se diagnosticó un total de 180 casos durante el periodo de estudio. La tasa de incidencia bruta para las edades 0-19 años fue de 54,2 por millón y la tasa de incidencia estandarizada por edad fue de 56,5 por millón. Si bien algunas regiones presentan tasas de incidencia más altas al considerar la heterogeneidad y la autocorrelación, no se observaron diferencias estadísticamente significativas en los riesgos relativos. ABSTRACT This article analyzes cancer incidence and spatial patterns in children and adolescents (0-19 years of age) residing in the city of Campinas in Southeastern Brazil who were diagnosed from 1996-2005. Cancers were classified according to the Third International Classification of Childhood Cancer (ICCC-3) Groups. The four most common groups were studied: leukemias, lymphomas, and central nervous system and soft tissue neoplasms. Age-standardized incidence rates were calculated using the world standard population. A spatial Bayesian hierarchical regression model (controlling for data heterogeneity and spatial autocorrelation) was fitted, assuming that the number of cancer cases follows a Poisson distribution. A total of 180 cases were diagnosed during the study period. Overall, the crude incidence rate was 54.2 per million and the age-standardized incidence rate was 56.5 per million. Although some regions present higher incidence rates, considering the spatial heterogeneity and the spatial autocorrelation, no statistically significant differences in the relative risks were observed.

Identifying psoriasis patients who present a higher risk of developing cardiovascular co-morbidities is of upmost importance. Two key adipokines, leptin and adiponectin, may play a role connecting psoriasis and its major co-morbidities.To evaluate the potential contribution of LEPrs2167270(19 G/A), LEPRrs1137100(326 A/G) and ADIPOQrs1501299(276 G/T) gene polymorphisms in psoriasis susceptibility and their influence in epicardial adipose tissue and abdominal visceral fat volume and subclinical atherosclerosis in severe psoriasis patients.One hundred severe psoriasis patients underwent clinical and laboratory evaluation, DNA genotyping and multi-detector computed tomography scan for epicardial adipose tissue, abdominal visceral fat and coronary artery calcification assessment. DNA control group was obtained from a previously anonymized biobank of 206 adult subjects without psoriasis.No association was observed between the studied gene polymorphisms and psoriasis susceptibility, CAC or increased EAT or AVF volume.The studied polymorphisms do not seem, at least in this cohort of patients, to be a genetic risk factor for the development of atherosclerosis or increased adiposity in psoriasis.

OBJECTIVES: Familial amyloid polyneuropathy (FAP ATTRV30M) shows a wide variation in age-at-onset (AO) between clusters, families, and among generations. We will now explore some candidate genes involved in altered disease pathways in order to assess their role as genetic modifiers of AO, using a family-centered approach. METHODS: We analyzed 62 tagging SNPs from nine genes-NGAL,MMP-9,BGN,MEK1,MEK2,ERK1,ERK2,HSP27, and YWHAZ - in a sample of 318 V30M Portuguese patients (106 families), currently under follow-up. A generalized estimating equation analysis was used to take into account nonindependency of AO between relatives. Also, an in silico analysis was performed in order to assess the functional impact of significant variants associated with AO. RESULTS: We found for the first time variants from six genes (NGAL,BGN (in the female group), MEK1,MEK2,HSP27, and YWHAZ) that were significantly associated with early- and/or late-onset. Then, we confirmed a strong synergistic interaction between NGAL and MMP-9 genes. Additionally, by an in silico analysis, we found some variants for MEK1 gene that may alter binding of the transcription factors and that influence the regulation of gene expression regarding microRNA binding sites and splicing regulatory factors. INTERPRETATION: These findings showed that different genetic factors can modulate differently the onset of disease's symptoms and revealed new mechanisms with clinical implications in the genetic counseling and follow-up of mutation carriers and could contribute for development of potential therapeutical targets. info:eu-repo/semantics/publishedVersion

Objective: This study aims to characterize patients hospitalized for acute heart failure (HF) in an internal medicine department and their one-year mortality and rate of rehospitalization for decompensated HF. Methods: This retrospective observational study enrolled all patients discharged in 2012 after hospitalization for acute HF. Discharge summaries, clinical records and telephone interviews were analysed. The data reports to the year before implementation of a heart failure clinic. Results: Four hundred and twenty-nine patients were enrolled, with a mean age of 79 years, 62.5% female. The most prevalent comorbidity and etiology was hypertension (86.7%) and the most frequent decompensation trigger was infection. HF with preserved ejection fraction (HFpEF) was present in 70.5%. In-hospital mortality was 7.9%. At discharge more than half of the patients were prescribed beta-blockers (52.8%) and angiotensin-converting enzyme inhibitors (52%). Women presented a significantly higher proportion of HFpEF than men (75.3% vs. 62.7%, p=0.01). Patients with diabetes and those with ischemic etiology had significantly higher proportions of HF with reduced ejection fraction (HFrEF) (34.8% vs. 24.3% in non-diabetic patients, p=0.027, and 56.2% vs. 15.6% for other etiologies, p

Complement C3 is an emerging risk factor in metabolic and cardiovascular diseases. It is elevated in patients with cardiovascular disease, predicts future myocardial infarction, is closely related to insulin resistance and appears to be involved in atherogenesis. C3 levels have been associated with body fat. The aim of this study was to compare C3 levels in psoriasis patients and controls and to investigate within psoriasis patients the relationship between C3 levels with several measures of body fat, markers of cardiometabolic risk and subclinical atherosclerosis. Eighty adult patients with severe plaque-type psoriasis, without psoriatic arthritis or receiving systemic therapy/phototherapy in the previous 3 months, and 95 otherwise healthy patients were enrolled. Subjects with cardiovascular disease, other systemic inflammatory diseases, use of anti-inflammatory drugs or any infectious diseases in the 4 weeks prior to study enrollment were excluded. All subjects underwent clinical and laboratory evaluation and psoriasis patients underwent multidetector computed tomography scan for coronary artery calcification, abdominal fat and epicardial adipose tissue quantification. C3 levels were increased in psoriasis patients compared to controls (129.25 ± 20.92 vs 118.24 ± 17.86, P

Epilepsy is one of the most common neurological pathologies in the world, with important repercussions in the individuals' Quality of Life (QOL). In this way, the goal of treatment surpasses the total remission of seizures, since it also prioritizes the improving the QOL of individuals with epilepsy. The QOL has been associated with some important modifying factors, for its promotion. In this way, with the present study we pretend to identify whether Adherence to Therapy, Coping Strategies and Spirituality are predictors of QOL of individuals with epilepsy. The SF-36 v1.0, the Measure Treatment Adherence, The COPE-R and The Spirituality Assessment Scale in Health Contexts were administered to 94 individuals with epilepsy diagnosis between four and forty-nine years. The relation between the variables was analysed through multiple linear regression model.

Background:Psoriasis is a common, chronic, systemic inflammatory skin disease associated with numerous cardiovascular comorbidities. Much evidence of this association exists in the adult population, data available in childhood psoriasis is more limited. Objectives: To analyze the prevalence of excess adiposity, cardiovascular risk factors, metabolic syndrome and lipid profile in children with psoriasis comparing to control group with similar age and sex distribution. Materials & methods: A case-control study was conducted with children, 5-15 years-old, with moderate-to-severe plaque-type psoriasis and a control group comprising children with other skin diseases without systemic inflammatory diseases. Results: Psoriatic children had a significantly higher prevalence and greater odds of excess adiposity compared to controls: BMI (≥85th percentile; OR 4.4; 95%CI 1.2-15.6), waist circumference (>75th percentile; OR 7.4; 95%CI 2.0-27.7) and waist-to-height ratio (>0.490; OR 4.6; 95%CI 1.3-17.0). A higher prevalence of metabolic syndrome was observed in children with psoriasis compared to controls (25% vs 3.7%; P = 0.07), and two components of the metabolic syndrome were significantly higher in the psoriasis group: waist circumference (75% vs 29.6%; P = 0.002) and the high blood pressure component (30% vs 3.7% P = 0.032). Finally, an altered and more atherogenic lipid profile was observed among psoriatic patients without excess adiposity. Conclusion: This study demonstrates that comorbidities known to be associated with adult psoriasis are also observed in childhood psoriasis, reinforcing the need for screening cardiovascular comorbidities in children with psoriasis and promoting healthy lifestyle choices in these patients. Moreover, it also suggests that its association with psoriasis may be in part genetically determined rather than uniquely acquired.

Theoretical models have emphasized the roles played by parental anxiety and behavior in the development of childhood anxiety problems. Little is known regarding the differential impacts of mothers and fathers or regarding the processes that mediate these influences. The present study examines the relationships between maternal and paternal trait anxiety, overprotection, and emotional support on the one hand and anxiety symptoms in children on the other hand. This study also explores the mediating role of children's cognitive vulnerabilities to anxiety disorders in the relationship between parental variables and children's anxiety. A sample of 80 children and their parents (fathers and mothers), selected from an initial screening of 905 school-aged children, participated in this study. The results indicate that both parents had unique influences on children's anxiety symptoms: maternal trait anxiety and paternal overprotection and concern were found to independently and positively contribute to children's anxiety. Furthermore, children's interpretative biases mediated the relation between maternal trait anxiety and children's anxiety symptoms. The results of this study underline the importance of considering both paternal and maternal factors in the development of children's anxiety problems. These findings also have implications for theoretical models of the etiology of anxiety and for the treatment of these problems in children.

Psoriasis is a chronic inflammatory disease associated with increased cardiovascular mortality, secondary to the increased prevalence of cardiovascular risk factors and premature atherosclerosis. Physical activity is a vital component in prevention and management of cardiovascular disease. Few studies have examined the level of physical activity in psoriasis patients, using validated questionnaires or other objective assessment tools. The aim of this study was to analyze and compare physical activity undertaken by patients with severe psoriasis and healthy controls, using the International Physical Activity Questionnaire—Short Form (IPAQ-S), a validated instrument for assessing physical activity. Ninety patients with severe plaque-type psoriasis and 160 healthy subjects were enrolled in the present study. Physical activity was evaluated using IPAQ-S. Psoriasis patients had reduced levels of physical activity compared with non-psoriasis patients, regardless of sex or whether the variable was continuous or categorical. The odds ratio for low-level physical activity for psoriasis patients, compared with controls, was 3.42 (95 % CI 1.47–7.91), indicating that this severe psoriasis population did not undertake recommended levels of physical activity. Psoriasis patients exhibit decreased levels of physical activity, possibly for both psychological and physiological reasons. The lack of physical activity may contribute to the increased risk of cardiovascular disease in psoriasis patients, in addition to the intrinsic risks related to systemic inflammation and psoriasis-linked comorbidities. Regular physical activity should be encouraged in all psoriasis patients because of its beneficial effects on systemic inflammation and cardiometabolic comorbidities associated with psoriasis.

Objective: Drug resistance is considered one of the main threats for tuberculosis control. Our aim was to identify risk factors for drug resistance in tuberculosis patients in the Northern Portugal. Study Design and Methods: Retrospective case-control study. The medical records and drug susceptibility test data from TB patients diagnosed between 31 March 2009 and 1 April 2010 were examined. We enrolled 119 patients with any drug resistance to first line anti-TB drugs and 238 with drug-susceptible TB, matched by age group. Variables analyzed included: gender, country of origin, employment situation, site of disease, previous treatment, presence of diabetes mellitus, HIV infection, alcohol abuse, intravenous drug use, abuse of other drugs and smoking habits. Multivariate conditional logistic regression was used to identify independent predictors for drug-resistant TB. Results: Diabetes mellitus [adjusted odds ratio (OR): 3.54; 95% CI: 1.45 - 8.66], intravenous drug use (OR: 4.77; 95% CI: 1.24 - 18.32) and previous TB treatment (OR: 2.48; 95% CI: 1.12 - 5.49) were found to be risk factors for drug-resistant disease development. Conclusions: Diabetes mellitus, prior tuberculosis treatment, and intravenous drug use were risk factors for drug-resistant disease. The association between diabetes and drug-resistant TB should be further explored. Identifying clinical predictors of drug resistance can allow prompt identification of patients at risk for drug-resistant TB.

In many follow-up studies different types of outcomes are collected including longitudinal measurements and time-to-event outcomes. Commonly, it is of interest to study the association between them. Joint modeling approaches of a single longitudinal outcome and survival process have recently gained increasing attention from both frequentist and Bayesian perspective. However, in many studies several longitudinal biomarkers are of interest and instead of selecting one single biomarker, the relationships between all these outcomes and their association with survival needs to be investigated. Our motivating study comes from Peritoneal Dialysis Programme in Nephrology research from Nephrology Unit, CHP (Hospital de Santo Antonio), Porto, Portugal in which the interest relies on the possible association between various biomarkers (calcium, phosphate, parathormone, and creatinine) and the patients' survival. To this aim, we propose a two-stage model-based approach for multivariate longitudinal and survival data that allowed us to study such complex association structure. The multivariate model suggested in this paper provided new insights in the area of nephrology research showing valid results in comparison with those models studying each longitudinal biomarker with survival separately.

Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is the most frequent pharmaco-resistant epilepsy. It has been associated with febrile seizures (FS) in childhood. Its aetiology remains unclear but genetic factors are involved. Apolipoprotein E (ApoE) is the main lipoprotein secreted in brain. It has a critical immunomodulatory function, influences neurotransmission and it is involved in repairing damaged neurons. ApoE ϵ4 is an isoform of ApoE with altered protein function, previously associated with refractoriness and early onset epilepsy. This study was undertaken to determine if ApoE isoforms are risk factors for MTLE-HS and influence clinical characteristics.A group of 188 MTLE-HS patients (101 F, 87 M, mean age = 44.7 ± 11.6 years, 100 with FS antecedents) was studied and compared with a group of 342 healthy individuals in a case-control genetic association study. Data were analysed with Pearson Chi-squared Test or Student's t test, as appropriated.No differences in ApoE ϵ4 allelic frequencies between MTLE-HS patients and controls or between MTLE-HS subgroups were observed. Nevertheless, ApoE ϵ4 carriers had an earlier MTLE-HS onset (11.0 ± 7.9 years in ApoE ϵ4 carriers vs. 14.4 ± 11.2 years in ApoE ϵ4 non-carriers p0.05). Additionally, we observed that MTLE-HS patients with FS antecedents had a statistically significant early disease onset (11.5 ± 8.7 years in FSOur data show that ApoE ϵ4 and FS may not participate directly in etiopathogenic mechanisms of MTLE-HS but could hasten the disease development in predisposed individuals.

This exploratory and cross-sectional study aimed to identify the prevalence of bullying in a group of students and analyze the data regarding the gender of those involved in the violence. A questionnaire adapted from Olweus was applied in seven elementary education schools in Portugal. The sample consisted of 387 students between 7 and 14 years old. Data are presented in terms of descriptive statistics and differences between proportions were analyzed using chi-square tests. The gender analysis of victimization and aggression shows that boys and girls are both victims and aggressors, and there are significant differences in involvement in bullying between genders and the roles played. Boys are victims more often when considering different types of bullying, although significant differences were only found for physical aggression. Strategies that include gender roles are a priority for prevention and careful attention to this phenomenon in the school context. The questions addressed contribute to a broader understanding of the phenomenon, emphasizing the differential participation of boys and girls in bullying., CIEC – Research Centre on Child Studies, UM (FCT R&D 317)

To estimate familial aggregation and quantify the genetic and environmental contribution to the phenotypic variation on sports participation (SP) among Portuguese families. The sample consisted of 2375 nuclear families (parents and two offspring each) from different regions of Portugal with a total of 9500 subjects. SP assessment was based on a psychometrically established questionnaire. Phenotypes used were based on the participation in sports (yes/no), intensity of sport, weekly amount of time in SP and the proportion of the year in which a sport was regularly played. Familial correlations were calculated using family correlations (FCOR) in the SAGE software. Heritability was estimated using variance-components methods implemented in Sequential Oligogenic Linkage Analysis Routines (SOLAR) software. Subjects of the same generation tend to be more similar in their SP habits than the subjects of different generations. In all SP phenotypes studied, adjusted for the effects of multiple covariates, the proportion of phenotypic variance due to additive genetic factors ranged between 40% and 50%. The proportion of variance attributable to environmental factors ranged from 50% for the participation in sports to 60% for intensity of sport. In this large population-based family study, there was significant familial aggregation on SP. These results highlight that the variation on SP phenotypes have a significant genetic contribution although environmental factors are also important in the familial resemblance of SP. ispartof: European Journal of Sport Science vol:14 issue:5 pages:510-7 ispartof: location:England status: published

Background.End-stage renal disease (ESRD) patients under hemodialysis (HD) have high mortality rate. Inflammation, dyslipidemia, disturbances in erythropoiesis, iron metabolism, endothelial function, and nutritional status have been reported in these patients. Our aim was to identify any significant association of death with these disturbances, by performing a two-year follow-up study.Methods and Results.A large set of data was obtained from 189 HD patients (55.0% male; 66.4 ± 13.9 years old), including hematological data, lipid profile, iron metabolism, nutritional, inflammatory, and endothelial (dys)function markers, and dialysis adequacy.Results.35 patients (18.5%) died along the follow-up period. Our data showed that the type of vascular access, C-reactive protein (CRP), and triglycerides (TG) are significant predictors of death. The risk of death was higher in patients using central venous catheter (CVC) (Hazard ratio [HR] =3.03, 95% CI = 1.49–6.13), with higher CRP levels (fourth quartile), compared with those with lower levels (first quartile) (HR = 17.3, 95% CI = 2.40–124.9). Patients with higher TG levels (fourth quartile) presented a lower risk of death, compared with those with the lower TG levels (first quartile) (HR = 0.18, 95% CI = 0.05–0.58).Conclusions.The use of CVC, high CRP, and low TG values seem to be independent risk factors for mortality in HD patients.

Objective. The aim of this study was to evaluate the association of tissue-type plasminogen activator (t-PA) levels with clinical data of patients under haemodialysis (HD) and with several variables potentially related to endothelial function and dysfunction. Material and methods. In a cross-sectional study involving 189 Portuguese HD patients, circulating levels of t-PA, lipids, oxidized low-density lipoprotein (Ox-LDL), interleukin-6 (IL-6), C-reactive protein (CRP), adiponectin, plasminogen activator inhibitor type 1 (PAI-1) and fibrin fragment D-dimer were measured. Results. Considering the entire population, t-PA correlated inversely and significantly with adiponectin and high-density lipoprotein-cholesterol, and positively and significantly with age, body mass index, PAI-1, IL-6, CRP, D-dimer, cholesterol and Ox-LDL. In multiple linear regression analysis PAI-1, age and adiponectin remained statistically associated with t-PA values (p < 0.01 for all). The weakest significant association (p = 0.046) was that found between t-PA and D-dimer. Conclusion. Adiponectin is a main determinant of t-PA level, which may be a good marker of endothelial dysfunction in HD patients.