Jéssica Bassani Borges

Background: Telemedicine represents an essential tool with the potential to reduce health costs, thus avoiding patient displacement and improving patient care outcomes, positioning it as a significant social technology. Objective: This study aims to analyze the implementation of a telehealth cabin at BP Hospital (A Beneficência Portuguesa de São Paulo), focusing on the evaluation of the experiences of both patients and health care professionals, as well as the acceptability of this tool. Methods: A mixed methods study was conducted with 229 participants, divided into 2 phases. The first phase involved 40 apparently healthy individuals to assess the usability, experience, and satisfaction of this group for the later safe application in the group with clinical complaints. The second phase included 189 participants, with complaints to assess the usability, experience, and satisfaction of patients and doctors. In both phases, participants completed screening questionnaires (to assess the eligibility criteria), a socioeconomic demographic questionnaire before using the cabin, and a questionnaire including the System Usability Scale and the Net Promoter Score (NPS) after using the cabin. Results: The data analysis of the first phase showed high acceptance of the telehealth cabin, which supported the progression to the second phase. In the second phase, a high usability score was observed among participants with clinical complaints (mean System Usability Scale score of 85.97, SD 15.50) and a high favorability rating (NPS score of 9.4). Health care professionals also reported favorable results, with a usability score of 67.8 and an NPS of 8.0. Conclusions: The results of this study reinforce the potential for scaling up this practice based on usability outcomes, and highlight its relevance for the development of public policies aimed at expanding access to quality health care in Brazil. This approach improves the interaction of patients with the health care system, while providing professionals with an extended view of clinical conditions through integrated devices, particularly in areas with limited access to medical care.

Aim: Methylation of LDLR, PCSK9 and LDLRAP1 CpG sites was assessed in patients with familial hypercholesterolemia (FH). Methods: DNA methylation of was analyzed by pyrosequencing in 131 FH patients and 23 normolipidemic (NL) subjects. Results: LDLR, PCSK9 and LDLRP1 methylation was similar between FH patients positive (MD) and negative (non-MD) for pathogenic variants in FH-related genes. LDLR and PCSK9 methylation was higher in MD and non-MD groups than NL subjects (p < 0.05). LDLR, PCSK9 and LDLRAP1 methylation profiles were associated with clinical manifestations and cardiovascular events in FH patients (p < 0.05). Conclusion: Differential methylation of LDLR, PCSK9 and LDLRAP1 is associated with hypercholesterolemia and cardiovascular events. This methylation profile maybe useful as a biomarker and contribute to the management of FH.

BACKGROUND Telemedicine represents an important tool, with potential to reduce the health costs, thus avoiding displacing patients, and even producing best results in the patient care, becoming an important social technology. OBJECTIVE The purpose of this paper is to present an analysis on the design to implementing telehealth boots in the Hospital BP – A Beneficência Portuguesa de São Paulo aiming to assess the experience both with patients and professionals, and also the acceptability of such tool. METHODS It was performed a prospective interventional cross-sectional study with 229 participants, which was divided in two phases: the first of the phases was performed with 40 apparently healthy individuals, aiming to assess the usability, experience and satisfaction of that group for the later safe application in the group with clinical complaints. The second phase included 189 individuals who could have clinical complaints, to assess the adherence, usability, experience and satisfaction both by users and doctors. In both phases of the study, participants answered screening questionnaires (in order to assess the eligibility criteria) and a socioeconomic demographic questionnaire before using the cabin, and a questionnaire contemplating the System Usability Scale (SUS), and the Net Promoter Score (NPS) after using the cabin. RESULTS After the data analysis of the first phase, it was observed a good acceptance of the cabin, which allowed to go on with the study towards the second phase. In this phase, it was observed a high usability index (85.97 average) and favorability (9.4 NPS) in the group with clinical complaints, as well as for doctors (usability average index of 67.8 and 8.0 NPS). CONCLUSIONS The outcomes of this research allow to assess the feasible expansion of this kind of practice from the point of view of usability, and also that this kind of study may contribute as subsidy to construct public policies with the purpose to expand the access for the Brazilian population to a qualified medical care, promoting the adherence of patients as to the health, thus providing to professionals an extended view of the clinical pictures through the embedded devices, even in areas with scarcity of such type of medical care.

Statins are the first-line treatment for familial hypercholesterolemia (FH), but response is highly variable due to genetic and nongenetic factors. Here, we explored the association between response and genetic variability in 114 Brazilian adult FH patients. Specifically, a panel of 84 genes was analyzed by exon-targeted gene sequencing (ETGS), and the functional impact of variants in pharmacokinetic (PK) genes was assessed using an array of functionality prediction methods. Low-density lipoprotein cholesterol (LDL-c) response to statins (reduction ≥ 50%) and statin-related adverse event (SRAE) risk were assessed in carriers of deleterious variants in PK-related genes using multivariate linear regression analyses. Fifty-eight (50.8%) FH patients responded to statins, and 24 (21.0%) had SRAE. Results of the multivariate regression analysis revealed that ABCC1 rs45511401 significantly increased LDL-c reduction after statin treatment (p < 0.05). In silico analysis of the amino-acid change using molecular docking showed that ABCC1 rs45511401 possibly impairs statin efflux. Deleterious variants in PK genes were not associated with an increased risk of SRAE. In conclusion, the deleterious variant ABCC1 rs45511401 enhanced LDL-c response in Brazilian FH patients. As such, this variant might be a promising candidate for the individualization of statin therapy.

Aim: Functional analysis of PCSK9 3′UTR variants and mRNA–miRNA interactions were explored in patients with familial hypercholesterolemia (FH). Materials & methods: PCSK9 3′UTR variants were identi...

Aim: To explore the association of circulating miRNAs with adiposity, metabolic status and inflammatory biomarkers in patients with metabolic syndrome (MetS). Methods: Serum levels of 372 miRNAs we... Lay abstract This study aimed to explore the association of circulating regulatory small molecules (miRNAs) with obesity, metabolic alterations and inflammation in patients with metabolic syndrome ... Graphical abstract

SUMMARY BACKGROUND: There is no strong evidence on the link between inflammatory profile and pattern of drug treatment response in depressive patients that could result in Coronary Artery Disease occurrence. OBJECTIVE: This study aimed to compare the subclinical atherosclerosis markers, inflammatory profile, and BDNF production in Resistant Depression (RD) or Bipolar Affective Disorder (BAD) patients under conventional treatment. METHODS: The population evaluated was comprised of 34 RD, 43 BAD, and 41 controls. Subclinical atherosclerosis markers were evaluated using ultrasonography, tomography, and exercise stress test. Plasma concentrations of TNFα, IL-1β, IL-6, and BDNF were measured using Luminex100™. The usCRP concentration was measured using turbidimetric immunoassay. IL1B, IL6, and TNFA expression were determined using TaqMan®. For the statistical analysis, the significance level was established at p<0.05. RESULTS: Concerning subclinical atherosclerosis markers, only O2 consumption was reduced in the BAD group (p = 0.001). Although no differences were found in gene expression, BDNF and IL-1β plasma concentration was increased in the RD group (p = 0.002 and p = 0.005, respectively) even with an antidepressant treatment, which suggests that these drugs have no effect in IL-1β secretion and that the inflammasome may play a role in therapy response. CONCLUSION: Taken together, both BDNF and IL-1β plasma concentrations could be used to the early identification of RD patients.

Summary Warfarin stands as the most prescribed oral anticoagulant. New oral anticoagulants have been approved recently; however, their use is limited and the reversibility techniques of the anticoagulation effect are little known. Thus, our study’s purpose was to develop algorithms for therapeutic monitoring of patients taking warfarin based on the opinion of physicians who prescribe this medicine in their clinical practice. The development of the algorithm was performed in two stages, namely: (i) literature review and (ii) algorithm evaluation by physicians using a Delphi Method. Based on the articles analyzed, two algorithms were developed: “Recommendations for the use of warfarin in anticoagulation therapy” and “Recommendations for the use of warfarin in anticoagulation therapy: dose adjustment and bleeding control.” Later, these algorithms were analyzed by 19 medical doctors that responded to the invitation and agreed to participate in the study. Of these, 16 responded to the first round, 11 to the second and eight to the third round. A 70% consensus or higher was reached for most issues and at least 50% for six questions. We were able to develop algorithms to monitor the use of warfarin by physicians using a Delphi Method. The proposed method is inexpensive and involves the participation of specialists, and it has proved adequate for the intended purpose. Further studies are needed to validate these algorithms, enabling them to be used in clinical practice.