Association of Mycobacterium avium paratuberculosis serostatus with age at first calving, calving interval, and milk production in dairy cows.

Mycobacterium avium ssp. paratuberculosis (MAP) is the causative agent of bovine paratuberculosis, also known as Johne's disease. This infection is responsible for negative effects, ranging from reduction of milk production to reproductive compromise and increased susceptibility to other diseases such as mastitis. Contradictory information on the association between this infection and reproductive performance has been reported in dairy cows. The aim of this work was to investigate associations between individual cow MAP seropositivity and lifetime reproduction and production performance. The MAP serum ELISA (IDEXX MAP Ac) results from all the 13,071 adult cows present on 191 farms and corresponding birth- and calving-date records obtained from the National Association for Genetic Improvement of Dairy Cattle were used. Cows and farms were classified as positive or negative, based on ELISA results. Outcomes assessed were age at first calving (AFC), intercalving intervals (ICI) from first to fourth interval, and average milk production per day of productive cycle (Milk-305/ICI, a ratio between 305-d corrected milk production and the number of days of the respective calving interval). Multilevel mixed models were used to investigate the association of cow MAP status with AFC, ICI, and Milk-305/ICI. Three levels were considered in the models: "measurement occasion," the first level, was nested within cows and cows were nested within farms. The "measurement occasion" is the time point to which all the observed measures (between 2 successive parturitions, such as milk production and somatic cell count) were referred. Our results indicate that MAP-positive cows have a significantly lower 14-d mean AFC than MAP-negative cows. The overall average ICI in our study was 432.5 d (standard deviation: 94.6). The average ICI, from first to fourth, was not significantly affected by MAP seropositivity. No significant effect of MAP positivity was found on the overall ICI. In relation to Milk-305/ICI, MAP-positive cows did not produce significantly less milk than negative cows across their productive lifetime. We observed higher but nonsignificant Milk-305/ICI (kg/d) in MAP-positive cows. In our study, the proportion of MAP-positive cows within lactations remained similar across all lactations, suggesting that seropositivity did not increased drop-off rate.

Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients.

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.

Deprivation-specific life tables using multivariable flexible modelling - trends from 2000-2002 to 2010-2012, Portugal.

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.

Age of onset of mesial temporal lobe epilepsy with hippocampal sclerosis: the effect of apolipoprotein E and febrile seizures.

PURPOSE: 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. METHODS: 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. RESULTS: 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 p < 0.05). Additionally, we observed that MTLE-HS patients with FS antecedents had a statistically significant early disease onset (11.5 ± 8.7 years in FS+ vs. 16.0 ± 12.1 years in FS-, p < 0.01). CONCLUSIONS: Our 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.

Two-stage model for multivariate longitudinal and survival data with application to nephrology research.

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 António), 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.

No inequalities in survival from colorectal cancer by education and socioeconomic deprivation - a population-based study in the North Region of Portugal, 2000-2002.

BACKGROUND: Association between cancer survival and socioeconomic status has been reported in various countries but it has never been studied in Portugal. We aimed here to study the role of education and socioeconomic deprivation level on survival from colorectal cancer in the North Region of Portugal using a population-based cancer registry dataset. METHODS: We analysed a cohort of patients aged 15-84 years, diagnosed with a colorectal cancer in the North Region of Portugal between 2000 and 2002. Education and socioeconomic deprivation level was assigned to each patient based on their area of residence. We measured socioeconomic deprivation using the recently developed European Deprivation Index. Net survival was estimated using Pohar-Perme estimator and age-adjusted excess hazard ratios were estimated using parametric flexible models. Since no deprivation-specific life tables were available, we performed a sensitivity analysis to test the robustness of the results to life tables adjusted for education and socioeconomic deprivation level. RESULTS: A total of 4,105 cases were included in the analysis. In male patients (56.3 %), a pattern of worse 5- and 10-year net survival in the less educated (survival gap between extreme education groups: -7 % and -10 % at 5 and 10 years, respectively) and more deprived groups (survival gap between extreme EDI groups: -5 % both at 5 and 10 years) was observed when using general life tables. No such clear pattern was found among female patients. In both sexes, when likely differences in background mortality by education or deprivation were accounted for in the sensitivity analysis, any differences in net survival between education or deprivation groups vanished. CONCLUSIONS: Our study shows that observed differences in survival by education and EDI level are most likely attributable to inequalities in background survival. Also, it confirms the importance of using the relevant life tables and of performing sensitivity analysis when evaluating socioeconomic inequalities in cancer survival. Comparison studies of different healthcare systems organization should be performed to better understand its influence on cancer survival inequalities.

Parental Involvement in Cognitive-Behavioral Intervention for Anxious Children: Parents' In-Session and Out-Session Activities and Their Relationship with Treatment Outcome.

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.

The effect of delayed graft function on graft and patient survival in kidney transplantation: an approach using competing events analysis.

OBJECTIVE: In kidney transplantation, the impact of delayed graft function (DGF) on long-term graft and patient survival is controversial. We examined the impact of DGF on graft and recipient survival by accounting for the possibility that death with graft function may act as a competing risk for allograft failure. STUDY DESIGN AND SETTING: We used data from 1281 adult primary deceased-donor kidney recipients whose allografts functioned at least 1 year. RESULTS: The probability of graft loss occurrence is overestimated using the complement of Kaplan-Meier estimates (1-KM). Both the cause-specific Cox proportional hazard regression model (standard Cox) and the subdistribution hazard regression model proposed by Fine and Gray showed that DGF was associated with shorter time to graft failure (csHR = 2.0, P = 0.002; sHR = 1.57, P = 0.009), independent of acute rejection (AR) and after adjusting for traditional factors associated with graft failure. Regarding patient survival, DGF was a predictor of patient death using the cause-specific Cox model (csHR = 1.57, P = 0.029) but not using the subdistribution model. CONCLUSIONS: The probability of graft loss from competing end points should not be reported with the 1-KM. Application of a regression model for subdistribution hazard showed that, independent of AR, DGF has a detrimental effect on long-term graft survival, but not on patient survival.

Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M.

BACKGROUND: Early-onset (≤40 years) and later-onset (≥50 years) cases of familial amyloid polyneuropathy (FAP) ATTRV30M are not different entities, often coexisting in the same family, and showing anticipation (earlier age-at-onset (AO) in younger generations, usually associated with more severe phenotype). Historically, anticipation has been ascribed to ascertainment biases. Our aim was to study anticipation in a very large number of FAP kindreds, removing possible biases, and gain further insight into parent-of-origin effects. METHODS: We analysed 926 parent-offspring pairs (from the Unidade Clínica de Paramiloidose roster, collected in 70 years), both clinically observed and had well-established AO, correcting for intrafamilial correlations. RESULTS: Women had a significantly higher AO, either for daughters (mean: 33.70, SD: 6.84) vs sons (29.43, 6.08); or mothers (39.57, 11.75) vs. fathers (35.62, 11.62). Also, 291 pairs showed marked anticipation (≥10 years); the transmitting parent was the mother in 203 pairs. Mother-son pairs showed larger anticipation (10.43, 9.34), while father-daughter pairs showed only a residual anticipation (1.23, 9.77). Gender of offspring and parents was highly significant (with no interaction). To remove possible biases, we repeated analyses: (1) excluding the proband; (2) removing pairs with simultaneous onset; and (3) excluding offspring born after 1960. Anticipation was found in all subsamples, with the same trend for a parent-of-origin effect. Noteworthy, parents with AO ≤40 years never had offspring with AO ≥50. CONCLUSIONS: These findings confirm anticipation as a true biological phenomenon, also in FAP ATTRV30M. Acknowledgment of anticipation may have important clinical implications in genetic counselling of offspring and in follow-up of mutation carriers.

Psychosocial factors as predictors of quality of life in chronic Portuguese patients.

BACKGROUND: Chronic illnesses are diseases of long duration and generally of slow progression. They cause significant quality of life impairment. The aim of this study was to analyse psychosocial predictors of quality of life and of subjective well-being in chronic Portuguese patients. METHODS: Chronic disease patients (n = 774) were recruited from central Portuguese Hospitals. Participants completed self-reported questionnaires assessing socio-demographic, clinical, psychosocial and outcome variables: quality of life (HRQL) and subjective well-being (SWB). MANCOVA analyses were used to test psychosocial factors as determinants of HRQL and SWB. RESULTS: After controlling for socio-demographic and clinical variables, results showed that dispositional optimism, positive affect, spirituality, social support and treatment adherence are significant predictors of HRQL and SWB. Similar predictors of quality of life, such as positive affect, treatment adherence and spirituality, were found for subgroups of disease classified by medical condition. CONCLUSIONS: The work identifies psychosocial factors associated with quality of life. The predictors for the entire group of different chronic diseases are similar to the ones found in different chronic disease subgroups: positive affect, social support, treatment adherence and spirituality. Patients with more positive affect, additional social support, an adequate treatment adherence and a feel-good spirituality, felt better with the disease conditions and consequently had a better quality of life. This study contributes to understanding and improving the processes associated with quality of life, which is relevant for health care providers and chronic diseases support.

Investigating the Life Expectancy at Birth of Companion Dogs in Portugal Using Official National Registry Data.

This study aimed to provide a comprehensive picture of the life expectancy of dogs in Portugal, focusing on the impact of diverse factors including breed, sex, size, and skull shape. The final dataset, gathering data from the national registry database, consisted of 278,116 dogs with confirmed deaths. The mean lifespan at birth for all the dogs was around 8.91 years, with the female dogs tended to have a similar lifespan to male dogs. The analysis of life expectancy at birth for the 20 most common non-Portuguese breeds and 10 Portuguese breeds revealed that Yorkshire Terriers had the highest life expectancy (10.89 years) and French Bulldogs the lowest (6.27 years). Size and cephalic index were found to be influential factors, with large brachycephalic breeds exhibiting shorter life expectancies and smaller, mesocephalic breeds experiencing longer lifespans. Additionally, the cephalic index had a more substantial impact on life expectancy compared to body size. These findings enhance the understanding of the factors influencing canine longevity and aid in developing strategies to improve the health and lifespan of companion dogs.

Modelling competing risks in nephrology research: an example in peritoneal dialysis.

BACKGROUND: Modelling competing risks is an essential issue in Nephrology Research. In peritoneal dialysis studies, sometimes inappropriate methods (i.e. Kaplan-Meier method) have been used to estimate probabilities for an event of interest in the presence of competing risks. In this situation a competing risk analysis should be preferable. The objectives of this study are to describe the bias resulting from the application of standard survival analysis to estimate peritonitis-free patient survival and to provide alternative statistical approaches taking competing risks into account. METHODS: The sample comprises patients included in a university hospital peritoneal dialysis program between October 1985 and June 2011 (n = 449). Cumulative incidence function and competing risk regression models based on cause-specific and subdistribution hazards were discussed. RESULTS: The probability of occurrence of the first peritonitis is wrongly overestimated using Kaplan-Meier method. The cause-specific hazard model showed that factors associated with shorter time to first peritonitis were age (≥55 years) and previous treatment (haemodialysis). Taking competing risks into account in the subdistribution hazard model, age remained significant while gender (female) but not previous treatment was identified as a factor associated with a higher probability of first peritonitis event. CONCLUSIONS: In the presence of competing risks outcomes, Kaplan-Meier estimates are biased as they overestimated the probability of the occurrence of an event of interest. Methods which take competing risks into account provide unbiased estimates of cumulative incidence for each specific outcome experienced by patients. Multivariable regression models such as those based on cause-specific hazard and on subdistribution hazard should be used in this competing risk setting.

Psychosocial correlates of physical activity in school children aged 8-10 years.

BACKGROUND: Understanding correlates of physical activity (PA) among children in different populations may contribute to fostering active lifestyles. This study considered gender differences in relationships between biologic (body mass index, BMI), demographic (socioeconomic sport status, SES) and psychosocial correlates of PA and level of PA in Portuguese primary school children. METHODS: 683 children, aged 8-10 years, from 20 different elementary schools in northern Portugal were surveyed. Weight status was classified using International Obesity Task Force (IOTF) criteria for the BMI. Family SES was estimated from school records. PA level and psychosocial correlates (attraction to PA, perceived physical competence and parental socialization) were obtained with interview and standardized questionnaires, respectively. Sex-specific hierarchical multiple regression analyses (SPSS 18.0) were conducted and included two blocks of predictor variables (biologic and demographic, and psychosocial). RESULTS: Level of PA was significantly higher in boys than girls. Enjoyment of participation in vigorous PA was positively associated with level of PA. Perceived acceptance by peers in games and sports and parental encouragement were positively and significantly related to PA in girls. Perceived physical competence was positively and significantly related to PA in boys. Weight status and SES were not associated with PA. CONCLUSIONS: Boys and girls differed in perceived attractiveness of PA and perceived physical competence, both of which influenced level of PA. Differences in perceptions may be important aspects of motivation for PA in school children.

One-year rehospitalisation and mortality after acute heart failure hospitalisation: a competing risk analysis.

OBJECTIVE: To 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. METHODS: Single-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. RESULTS: During 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. CONCLUSION: When 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.

One-year mortality after hospitalization for acute heart failure: Predicting factors (PRECIC study subanalysis).

INTRODUCTION AND OBJECTIVES: One-year mortality after hospitalization for heart failure (HF) is high. This study aims to identify predictive factors of one-year mortality. METHODS: This is a retrospective, single-center and observational study. All patients hospitalized for acute HF during one year were enrolled. RESULTS: A total of 429 patients were enrolled, mean age of 79 years. The in-hospital and one-year all-cause mortality rates were 7.9% and 34.3%, respectively. In the univariable analysis, the factors significantly associated with higher one-year mortality risk were: age ≥80 years (odds ratio (OR)=2.05, 95% confidence interval (CI) 1.35-3.11, p=0.001); active cancer (OR=2.93, 95% CI 1.36-6.32, p=0.008); dementia (OR=2.84, 95% CI 1.81-4.47, p<0.001); functional dependency (OR=2.63, 95% CI 1.65-4.19, p<0.001); atrial fibrillation (OR=1.86, 95% CI 1.24-2.80, p=0.004); higher creatinine (OR=2.03, 95% CI 1.29-3.21, p=0.002), urea (OR=2.92, 95% CI 1.95-4.36, p<0.001) and red cell distribution width (RDW; 4thQ OR=5.59, 95% CI 3.03-10.32, p=0.001); and lower hematocrit (OR=0.94, 95% CI 0.91-0.97, p<0.001), hemoglobin (OR=0.83, 95% CI 0.75-0.92, p<0.001) and platelet distribution width (PDW; OR=0.89, 95% CI 0.82-0.97, p=0.005). In the multivariable analysis, the independent predictors of higher one-year mortality risk were: age ≥80 years (OR=2.05, 95% CI 1.21-3.48); active cancer (OR=2.70, 95% CI 1.03-7.01); dementia (OR=2.69, 95% CI 1.53-4.74); higher urea (OR=2.97, 95% CI 1.84-4.80) and RDW (4thQ OR=5.24, 95% CI 2.55-10.76); and lower PDW (OR=0.88, 95% CI 0.80-0.97). CONCLUSIONS: Active cancer, dementia, and high values for urea and RDW at admission are predictors of one-year mortality in patients hospitalized for HF. These variables are readily available at admission and can support the clinical management of HF patients.

Multiple autoimmune syndrome: Clinical, immunological and genotypic characterization.

INTRODUCTION: The existence of subphenotypes common to several autoimmune diseases (AIDs) suggests a shared physiopathology - autoimmune tautology. Multiple Autoimmune Syndrome (MAS) - the coexistence of three or more AIDs in one person-, best illustrates that polyautoimmunity is more than a coincidence. OBJECTIVES: Characterize and compare the monoautoimmune and MAS patients. Understand if clustering of AIDs leads to differences in disease severity, autoantibodies expression or genetic polymorphisms that could be markers for polyautoimmunity. METHODS: Currently adult patients were selected from unit cohort. MAS was assumed when ≥3 AIDs were present. 343 patients were included after exclusion criteria: having two AIDs or undetermined diagnosis. Clinical and immunological data were collected from medical files. HLA-DRB1 was genotyped by PCR-SSP methodology and PTPN22(rs2476601) polymorphisms by TaqMan Real Time PCR. Data were analysed using Chi-Square, Fisher's exact tests and logistic regression. Odds ratios (OR) and 95% confidence intervals were calculated. RESULTS: In comparison with control population: ELEVATED FREQUENCIES: HLA-DRB1*03 in study cohort (OR=3.68,p<0.001) and in monoautoimmune SLE (OR=2.79,p<0.001) and SjS (OR=8.27,p<0.001); HLA-DRB1*15 in monoautoimmune SjS (OR=2.39,p = 0.011); HLA-DRB1*16 in MAS SLE (OR=2.67,p = 0.031); PTPN22_T in all groups except monoautoimmune SjS and triple positive systemic MAS. DIMINISHED FREQUENCIES: HLA-DRB1*11 in study cohort (OR=0.57,p = 0.013), in MAS SLE (OR=0.39,p = 0.031) and monoautoimmune SjS (OR=0.10,p = 0.005); HLA-DRB1*13 in study cohort (OR=0.52,p = 0.001) and in monoautoimmune SLE (OR=0.53,p = 0.009) and SjS (OR=0.38,p = 0.031); HLA-DRB1*14 in study cohort (OR=0.32,p = 0.013) and monoautoimmune SLE (OR=0.21,p = 0.021); SLE group: HLA-DRB1*07 frequency was higher in monoautoimmune patients (OR=0.43,p = 0.023). MAS patients had significantly more NPSLE (OR=2.99,p<0.001), subacute cutaneous lesions (OR=2.30,p = 0.037), muscle&tendon (OR=2.00,p = 0.045), and haematological (OR=3.18,p = 0.006) involvement and Raynaud's (OR=2.94,p<0.001). SjS group: MAS patients had more frequently cryoglobulins (OR=2.96,p = 0.030), low complement (OR=2.43,p = 0.030) and Raynaud's (OR=4.38,p<0.001); monoautoimmune patients had more parotid enlargement (OR=0.12,p<0.001). APS group: MAS patients had more non-thrombotic manifestations (OR=4.69,p = 0.020) and Raynaud's (OR=9.12,p<0.001). Triple positive systemic MAS (SLE+SjS+APS) had more frequently severe kidney involvement (OR=11.67,p = 0.021) and CNS thrombosis (OR=4.44,p = 0.009). Anti-U1RNP increased frequency was transversally attributable to MAS. CONCLUSIONS: The coexistence of AIDs contributes to a more severe disease course. We confirmed previously established genetic risk and protection factors and suggest a new protective one - HLA-DRB1*14. HLA-DRB1*07 and anti-U1RNP could be markers for mono and polyautoimmunity, respectively; HLA-DRB1*13 could be a predictor for vascular risk in patients with multiple AIDs. PTPN22(rs2476601) polymorphism could be associated with less severe disease.

Epidemiology of Psoriasis in Portugal: A Population-Based Study.

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.

Main determinants of PON1 activity in hemodialysis patients.

BACKGROUND/AIMS: Cardiovascular diseases are the major cause of morbidity and mortality in hemodialysis (HD) patients. These patients present reduced paraoxonase 1 (PON1) activity that depends on genetic and non-genetic factors; however, how these factors influence PON1 activity in HD patients is poorly clarified. Our aim was to evaluate the influence of two polymorphisms and non-genetic factors on PON1 activity in HD patients. METHODS: We evaluated 183 HD patients under recombinant human erythropoietin (rhEPO) treatment and 22 healthy individuals. The lipid profile [total cholesterol, triglycerides, HDL-c, LDL-c, apolipoprotein (Apo) A-I, Apo B, lipoprotein(a) and oxidized low-density lipoprotein (Ox-LDL)], inflammatory markers [adiponectin, interleukin-6 (IL-6) and C-reactive protein (CRP)], PON1 activity and PON1 gene polymorphisms (L55M and Q192R) were evaluated. RESULTS: HD patients presented higher levels of IL-6, CRP and Ox-LDL/LDL-c, and lower PON1 activity, total cholesterol, HDL-c, LDL-c, Apo A and Apo B; the most frequent genotype was heterozygosity for L55M polymorphism and homozygosity for the Q allele, the more frequent genotype of Q192R polymorphism. Multiple regression analysis identified heterozygosity and homozygosity for L55M and Q192R polymorphisms, very low-density lipoproteins, LDL-c, Apo A and CRP levels, time on dialysis and rhEPO dose, as the independent variables significantly associated with PON1 activity. The associations with CRP, rhEPO and time on dialysis were negative. CONCLUSION: Our results show that the reduced PON1 activity in HD patients who are not under statin therapy is strongly associated with inflammation, longer time on dialysis and high rhEPO doses, suggesting that the reduction in PON1 activity may worsen the prognosis of these patients.

Assessing risk profiles for Salmonella serotypes in breeding pig operations in Portugal using a Bayesian hierarchical model.

BACKGROUND: The EU Regulation No 2160/2003 imposes a reduction in the prevalence of Salmonella in pigs. The efficiency of control programmes for Salmonella in pigs, reported among the EU Member States, varies and definitive eradication seems very difficult. Control measures currently recommended for Salmonella are not serotype-specific. Is it possible that the risk factors for different Salmonella serotypes are different? The aim of this study was to investigate potential risk factors for two groups of Salmonella sp serotypes using pen faecal samples from breeding pig holdings representative of the Portuguese pig sector. METHODS: The data used come from the Baseline Survey for the Prevalence of Salmonella in breeding pigs in Portugal. A total of 1670 pen faecal samples from 167 herds were tested, and 170 samples were positive for Salmonella. The presence of Salmonella in each sample (outcome variable) was classified in three categories: i) no Salmonella, ii) Salmonella Typhimurium or S. Typhimurium-like strains with the antigenic formula: 1,4,5,12:i:-, , and iii) other serotypes. Along with the sample collection, a questionnaire concerning herd management and potential risk factors was utilised. The data have a "natural" hierarchical structure so a categorical multilevel analysis of the dataset was carried out using a Bayesian hierarchical model. The model was estimated using Markov Chain Monte Carlo methods, implemented in the software WinBUGS. RESULTS: The significant associations found (when compared to category "no Salmonella"), for category "serotype Typhimurium or S. Typhimurium-like strains with the antigenic formula: 1,4,5,12:i:-" were: age of breeding sows, size of the herd, number of pigs/pen and source of semen. For the category "other serotypes" the significant associations found were: control of rodents, region of the country, source of semen, breeding sector room and source of feed. CONCLUSIONS: The risk factors significantly associated with Salmonella shedding from the category "serotype Typhimurium or serotype 1,4,5,12:i:-" were more related to animal factors, whereas those associated with "other serotypes" were more related to environmental factors. Our findings suggest that different control measures could be used to control different Salmonella serotypes in breeding pigs.

Adiponectin is an independent predictor of tissue plasminogen activator levels in patients under haemodialysis.

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.