Clinical model for Hereditary Transthyretin Amyloidosis age of onset prediction

IntroductionHereditary transthyretin amyloidosis (ATTRv amyloidosis) is a rare neurological hereditary disease clinically characterized as severe, progressive, and life-threatening while the age of onset represents the moment in time when the first symptoms are felt. In this study, we present and discuss our results on the study, development, and evaluation of an approach that allows for time-to-event prediction of the age of onset, while focusing on genealogical feature construction.Materials and methodsThis research was triggered by the need to answer the medical problem of when will an asymptomatic ATTRv patient show symptoms of the disease. To do so, we defined and studied the impact of 77 features (ranging from demographic and genealogical to familial disease history) we studied and compared a pool of prediction algorithms, namely, linear regression (LR), elastic net (EN), lasso (LA), ridge (RI), support vector machines (SV), decision tree (DT), random forest (RF), and XGboost (XG), both in a classification as well as a regression setting; we assembled a baseline (BL) which corresponds to the current medical knowledge of the disease; we studied the problem of predicting the age of onset of ATTRv patients; we assessed the viability of predicting age of onset on short term horizons, with a classification framing, on localized sets of patients (currently symptomatic and asymptomatic carriers, with and without genealogical information); and we compared the results with an out-of-bag evaluation set and assembled in a different time-frame than the original data in order to account for data leakage.ResultsCurrently, we observe that our approach outperforms the BL model, which follows a set of clinical heuristics and represents current medical practice. Overall, our results show the supremacy of SV and XG for both the prediction tasks although impacted by data characteristics, namely, the existence of missing values, complex data, and small-sized available inputs.DiscussionWith this study, we defined a predictive model approach capable to be well-understood by medical professionals, compared with the current practice, namely, the baseline approach (BL), and successfully showed the improvement achieved to the current medical knowledge

Finding interesting contexts for explaining deviations in bus trip duration using distribution rules

Lecture Notes in Computer Science Volume 7619, 2012.In this paper we study the deviation of bus trip duration and its causes. Deviations are obtained by comparing scheduled times against actual trip duration and are either delays or early arrivals. We use distribution rules, a kind of association rules that may have continuous distributions on the consequent. Distribution rules allow the systematic identification of particular conditions, which we call contexts, under which the distribution of trip time deviations differs significantly from the overall deviation distribution. After identifying specific causes of delay the bus company operational managers can make adjustments to the timetables increasing punctuality without disrupting the service.(undefined

CUIDADOS PALIATIVOS NA ATENÇÃO PRIMÁRIA: CONHECIMENTO DOS MÉDICOS E ENFERMEIROS DA ESTRATÉGIA SAÚDE DA FAMÍLIA

Introdução: A transiçaõ demograf́ ica e epidemioloǵ ica aumenta a prevalência de doenças crônico-degenerativas colocando em evidência os cuidados no final da vida. Assim, deve-se difundir o conhecimento dos Cuidados Paliativos (CP) entre profissionais de saúde. Objetivo: Identificar o conhecimento e as principais fragilidades em CP dos profissionais de saud́ e de niv́ el superior que atuam na Estrateǵ ia Saúde da Família (ESF). Métodos: Estudo transversal, analítico, realizado na ESF de Saõ Jose ́de Ribamar - MA com med́ icos e enfermeiros, utilizou-se um questionaŕ io alemaõ (Bonn Palliative Care Knowledge Test), versaõ em português, para avaliar conhecimento e perfil de autoconfiança em CP. Foram entrevistados 66 pessoas, sendo 30 (45,4%) med́ icos e 36 (54,6%) enfermeiros. Para o caĺ culo estatiś tico, foi utilizado o software SPSS v. 19 (niv́ el de significância de 0,05). Para se avaliar os questionaŕ ios de conhecimento foi empregado o teste do Qui-quadrado. Resultados: Não houve diferenças significativas na frequência de acertos entre médicos e enfermeiros, o maior nuḿ ero de acertos foi em questoẽ s que abordam a dimensaõ fiś ica. A aferiçaõ de pressaõ arterial e da glicemia capilar foram as prat́ icas mais comuns na assistência ao paciente em CP, 46 profissionais (69,7%). Os profissionais de saúde que tiveram melhor desempenho tinham tempo de graduação ≤ 5 anos (dentre os med́ icos) e ≥ 10 anos (dentre os enfermeiros) Conclusão: As prat́ icas assistenciais e entendimento dos profissionais para pacientes em CP saõ predominantemente voltadas para os aspectos fiś icos. Os profissionais expressam um elevado perfil de autoconfiança, porém de modo equivocado no que se refere aos CP.Palavras-chave: Cuidados paliativos. Atenção Primária à Saúde. Saúde da Família

Effect of Carbamylated Erythropoietin in a Chronic Model of TNBS-Induced Colitis

Background: Inflammatory bowel disease (IBD) is a public health issue with a growing prevalence, which can be divided into two phenotypes, namely Crohn’s disease (CD) and ulcerative colitis (UC). Currently, used therapy is based only on symptomatic and/or palliative pharmacological approaches. These treatments seek to induce and maintain remission of the disease and ameliorate its secondary effects; however, they do not modify or reverse the underlying pathogenic mechanism. Therefore, it is essential to investigate new potential treatments. Carbamylated erythropoietin (cEPO) results from the modification of the Erythropoietin (EPO) molecule, reducing cardiovascular-related side effects from the natural erythropoiesis stimulation. cEPO has been studied throughout several animal models, which demonstrated an anti-inflammatory effect by decreasing the production of several pro-inflammatory cytokines. Aim: This study aimed to evaluate the efficacy and safety of cEPO in a chronic TNBS-induced colitis model in rodents. Methods: Experimental colitis was induced by weekly intrarectal (IR) administrations of 1% TNBS for 5 weeks in female CD-1 mice. Then, the mice were treated with 500 IU/kg/day or 1000 IU/kg/day of cEPO through intraperitoneal injections for 14 days. Results: cEPO significantly reduced the concentration of alkaline phosphatase (ALP), fecal hemoglobin, tumor necrosis factor (TNF)-α, and interleukin (IL)-10. Also, it demonstrated a beneficial influence on the extra-intestinal manifestations, with the absence of significant side effects of its use. Conclusion: Considering the positive results from cEPO in this experiment, it may arise as a new possible pharmacological approach for the future management of IBD