ONTODRC rompendo o silêncio da doença renal crônica

Chronic Kidney Disease (CKD) is a public health problem that affects nearly 10% of the global adult population, with a mortality rate of 15% per year. This disease is classified in five progressive stages (1>2>3>4>5), and it is shocking to know that 70% of the patients that start Kidney Replacement Therapy (KRT), only in the last stage, do not know they were previously infected by it. It is clear that those patients in the early stages of CKD are underdiagnosed and deprived of health policies to optimize diagnosis and to warn them of the need for KRT and of the catastrophic cardiovascular outcomes that are the main cause of death in this segment. The barriers identified for kidney care were the factors related to the knowledge and attitude of physicians and patients, besides the geography. In this context, there is a need to develop well-designed strategies to guide decision-making and enhance the care for patients with CKD. In this, work, we aimed to develop an Artificial Intelligence tool called ontology, with a view to optimizing the early diagnosis of Chronic Kidney Disease in Primary Health Care. For this purpose, after acquiring knowledge about the disease domain, we drew up the global guideline for the assistance of the patient with kidney disease in the form of a Rule-Based System that was subsequently implemented manually following the model 101 for construction of ontologies in the Protégé software, an ontology editor, having as its reasoning element the Hermit, for the necessary inferences. Accordingly, the constructed ontology called ONTODRC is characterized as a Clinical Decision Support System that has been validated computationally and in real HULW cases. After validating ONTODRC, we applied it in a sample of 185 primary care physicians in the town of João Pessoa, in two moments. In the first one, we applied a questionnaire to assess the pre and post knowledge on ONTODRC; and, in the second, we measured the perception of ease and usefulness of the tool with the technology acceptance model (TAM). In order to assess the effect of the intervention in the Knowledge assessment, we used the McNemar’s Test; and, to check the reliability of the TAM constructs, we used the Cronbach’s Alpha indicator (C.A.). In the results, we noted that the constructed ontology has an approximate capacity to respond to 90% of the surveyed requirements and also has the capacity to bring knowledge to the users. In turn, these users have considered the tool as useful and easy in their daily lives. We can conclude that the ONTODRC has the capacity to optimize the early diagnosis of CKD, in order to provide human, economic and environmental benefits.NenhumaA Doença Renal Crônica (DRC) é um problema de saúde pública, que acomete cerca de 10% da população adulta mundial, com mortalidade de 15% ao ano. Classificada em cinco estágios (1>2>3>4>5) progressivos, sendo chocante saber que 70% dos pacientes que entram em Terapia Renal Substitutiva (TRS), apenas, no último estágio, desconhecem ser portador da doença, previamente. Fica claro que, aqueles pacientes nos estágios iniciais da DRC estão subdiagnosticados e carentes de políticas de saúde para otimização do diagnóstico, para prevenção da necessidade de TRS e dos desfechos cardiovasculares catastróficos que são a principal causa de óbito neste segmento. As barreiras identificadas para o cuidado renal foram fatores relacionados ao conhecimento e atitude de médicos e pacientes e a geografia. Neste contexto, há necessidade de desenvolver estratégias bem desenhadas para orientar a tomada de decisão e melhorar a prestação de cuidados aos pacientes com DRC. Neste trabalho, objetivou-se desenvolver uma ferramenta da Inteligência Artificial denominada ontologia, a fim de otimizar o diagnóstico precoce da Doença Renal Crônica, na Atenção Primária à Saúde. Para tanto, após aquisição do conhecimento sobre o domínio da doença foi modelada a diretriz mundial para a assistência do nefropata na forma de um Sistema Baseado em Regras que a seguir foi implementada manualmente seguindo o modelo 101 para construção de ontologias no software Protégé, um editor de ontologias, tendo como raciocinador o Hermit para as inferências necessárias. Sendo assim, a ontologia construída, denominada ONTODRC caracteriza-se como um Sistema de Apoio à Decisão Clínica que foi validado computacionalmente e em casos reais do HULW. Após a validação a ONTODRC foi aplicada numa amostra de 185 médicos da atenção primária do município de João Pessoa em dois momentos. No primeiro foi aplicado questionário para avaliar o conhecimento pré e pós ONTODRC e no segundo foi medido a percepção de facilidade e utilidade da ferramenta com o modelo de aceitação de tecnologia (TAM). Para avaliar o efeito da intervenção na Avaliação do conhecimento foi utilizado o Teste de McNemar e para verificar a fidedignidade dos constructos da TAM foi utilizado o indicador Alfa de Conbrach (A.C.). Nos resultados obteve-se que a ontologia construída possui capacidade aproximada de responder a 90 % dos requisitos levantados e tem capacidade de levar conhecimento aos usuários. E esses consideraram a ferramenta útil e fácil no seu dia a dia. Conclui-se que a ONTODRC tem a capacidade de otimizar o diagnóstico precoce da DRC propiciar ganhos humanos, econômicos e ambientais

The importance of histopathology in the diagnosis of isolated renal sarcoidosis: a case report

ABSTRACT Introduction: Sarcoidosis is a systemic inflammatory disease of unknown etiology, characterized by the presence of non-caseating granulomas in several organs; renal impairment alone is a rare condition. When it affects the kidneys, the most prevalent manifestations are hypercalcemia and hypercalciuria. This paper aims to address the topic of renal sarcoidosis, by means of a case report, and reinstate the importance of histopathology in its diagnosis. Methods: The data came from an observational clinical study with a qualitative approach, through an interview with the renal sarcoidosis patient and data from her medical records. Case report: Patient D.M.S., 50 years old, Caucasian, presented with reddish eyes and body pains lasting for fifteen days as first manifestations of the disease. Upon kidney ultrasound scan, we found renal parenchymal nephropathy. Serial renal function and metabolic tests reported anemia and progressive urea and creatinine changes, as well as hypercalcemia and hypercalciuria, confirming acute kidney failure (AKF). A histopathological examination suggested the diagnosis, which was confirmed by clinical, laboratory and histopathological data. There was therapeutic resolution after steroid therapy. Discussion: The symptomatology of sarcoidosis is diverse and often non-specific. Renal manifestation, which usually occurs after organ involvement, is present in less than 5% of patients, and about 1% to 2% of these patients may develop AKF. Conclusions: The use of histopathology together with clinical and laboratory data to diagnose isolated renal sarcoidosis, rule out other etiologies and introduce early treatment is of paramount importance

The MTHFR promoter hypermethylation pattern associated with the A1298C polymorphism influences lipid parameters and glycemic control in diabetic patients

Abstract Background Polymorphisms in the gene encoding methylenetetrahydrofolate reductase (MTHFR) have been investigated as risk factors for microvascular complications of diabetes; however, simultaneous analysis of these polymorphisms and the methylation pattern of the gene has never been conducted. The objective of the present study was to evaluate the simultaneous relationship between MTHFR methylation and MTHFR C6TT7 and A1298C polymorphisms with metabolic, inflammatory and oxidative stress parameters related to microvascular complications, diabetic retinopathy (DR) and diabetic nephropathy (DN) in diabetic patients. Methods A total of 107 patients who were diagnosed in the previous 5 to 10 years were recruited and divided into groups with complications (DR and/or DN) or without complications. Methylation analysis of the gene promoter was conducted using the MSP technique, and analysis of the A1298C and C677T polymorphisms was conducted using the restriction fragment length polymorphism (RFLP) assay. Microalbuminuria was determined using urine samples, and other analytes of interest were determined in blood samples using commercial kits. The Mann–Whitney and Chi square statistical tests were used with significance considered at p < 0.05. Results Subjects with a hypermethylated profile and the 1298AA genotype showed the highest levels of blood glucose (p = 0.03), total cholesterol (p = 0.0001) and LDL cholesterol (p = 0.0006). The same profile was associated with higher levels of HbA1c (p = 0.025), glycemia (p = 0.04) and total cholesterol (0.004) in the control group and total cholesterol (p = 0.005) and LDL cholesterol (p = 0.002) in the complications group. Serum creatinine was higher in subjects in the hypermethylated group with the genotype 677CC only in the control group (p = 0.0020). The methylated profile in presence of 677CC + 1298AA and the 677CT/TT +1298AA haplotypes showed higher levels of total cholesterol (p = 0.0024; 0.0031) and LDL cholesterol (p = 0.0060; 0.0125) than 1298AC/CC carriers. The fasting glycemia was higher in hypermethylated profile in the presence of 677CC/1298AA haplotype (p = 0.0077). Conclusion The hypermethylated methylation profile associated with the 1298AA genotype appeared to be connected to higher values of glycemia, total cholesterol and LDL cholesterol