The history of families at-risk for hereditary breast and ovarian cancer: what are the impacts of genetic counseling and testing?

Introduction: Cancer Genetic Counseling (CGC) and genetic testing (GT) assume a paramount role for hereditary cancer predisposition syndrome families. We assessed the effects of CGC and GT on women affected by cancer who are at risk for hereditary breast and ovarian cancer predisposition syndrome (HBOC).

Methods: This study encompasses four time points: before the CGC session, after the CGC session when blood is drawn for GT, after disclosure of GT results, and six months following disclosure of GT results.

Cancer Risk Factors in Southern Brazil: Report of a Comprehensive, Matched Case-Control Study.

Purpose: To evaluate cancer risk factors among cancer cases and controls from Southern Brazil, to analyze a multigene hereditary panel testing (MGPT, 26 genes) for breast cancer (BC) and colorectal cancer (CCR) cases diagnosed age younger than 50 years and to characterize them for hereditary cancer syndrome (HCS) phenotypes.

Methods: A case-control (matched by age group and sex) study was conducted on regional cancer. Data on exposure factors and first-/second-degree family history of cancer (1/2FHC) were collected.

Automatic documentation of professional health interactions: A systematic review.

Electronic systems are increasingly present in the healthcare system and are often related to improved medical care. However, the widespread use of these technologies ended up building a relationship of dependence that can disrupt the doctor-patient relationship. In this context, digital scribes are automated clinical documentation systems that capture the physician-patient conversation and then generate the documentation for the appointment, enabling the physician to engage with the patient entirely.

A Blockchain-Based End-to-End Data Protection Model for Personal Health Records Sharing: A Fully Homomorphic Encryption Approach.

Personal health records (PHR) represent health data managed by a specific individual. Traditional solutions rely on centralized architectures to store and distribute PHR, which are more vulnerable to security breaches. To address such problems, distributed network technologies, including blockchain and distributed hash tables (DHT) are used for processing, storing, and sharing health records.

Integrating multiple blockchains to support distributed personal health records.

Blockchain technologies have evolved in recent years, as have the use of personal health record (PHR) data. Initially, only the financial domain benefited from Blockchain technologies. Due to efficient distribution format and data integrity security, however, these technologies have demonstrated potential in other areas, such as PHR data in the healthcare domain.

Genetic cancer risk assessment: A screenshot of the psychosocial profile of women at risk for hereditary breast and ovarian cancer syndrome.

Objective: There is a lack of information describing Brazilian women at risk of hereditary breast and ovarian cancer syndrome (HBOC) who undergo genetic cancer risk assessment (GCRA). This study aims to characterize the psychosocial profile of women at risk for HBOC at their first GCRA to obtain an overview of their families' profiles and the challenges of the oncogenetics setting.

Methods: This was a cross-sectional study in which interviews were conducted with 83 cancer-affected women at their first GRCA appointment after the pedigree draw.

Barriers to the composition and implementation of advance directives in oncology: a literature review.

The advance directive (AD) is an important resource in oncology and all areas of medicine directly involved in the care of palliative patients. It provides people with the right to have their living wills honoured when they cannot respond by themselves. Despite their importance, ADs are still underused in most countries due to multiple factors.

Spirituality in the continuing education of healthcare professionals: An approach to palliative care.

Objective: A major barrier to the adoption of an approach that integrates spirituality into palliative care is the lack of preparation/education of healthcare professionals on the topic. This study aimed to evaluate the effectiveness of a continuing education activity for healthcare professionals addressing spirituality and spiritual care provision to patients and families within palliative care.

Method: We conducted an intervention study using a quantitative pre- and posttest design in a convenience sample of 52 healthcare professionals.

Analyzing the performance of a blockchain-based personal health record implementation.

Background: The Personal Health Record (PHR) and Electronic Health Record (EHR) play a key role in more efficient access to health records by health professionals and patients. It is hard, however, to obtain a unified view of health data that is distributed across different health providers. In particular, health records are commonly scattered in multiple places and are not integrated.

Mapping Bioethics in Latin America: History, Theoretical Models, and Scientific Output.

Objective: To present a narrative review of the history of bioethics in Latin America and of scientific output in this interdisciplinary field.

Methods: This was a mixed-methods study.

Results: A total of 1458 records were retrieved, of which 1167 met the inclusion criteria.

Cross-cultural validation of the Brazilian version of the spiritual care competence scale.

Objective: This study describes the cross-cultural validation and psychometric evaluation of the Spiritual Care Competence Scale - Brazilian Portuguese version. This reliable and valid instrument is recommended in the literature to measure the outcomes of the education process in the development of spiritual care competences.

Method: This is a cross-sectional validation study following the stages proposed by Beaton et al.

Brazilian legal and bioethical approach about donation for research and patents of human body parts.

The aim of this paper is to explain why the Brazilian legal system does not accept commercialization or commodification of human body parts, including genes or cells. As a consequence, in Brazil, the donation of human body parts for research-including basic or translational-must be made altruistically. For the same reason, the Brazilian patent system cannot be applied to human parts, cells or genes.

"Why throw away something useful?": Attitudes and opinions of people treated for bipolar disorder and their relatives on organ and tissue donation.

In regard to mental illness, brain donation is essential for the biological investigation of central pathology. Nevertheless, little is known about the thoughts of people with mental disorders on tissue donation for research. Here, our objective was to understand the attitudes and opinions of people treated for bipolar disorder and their relatives regarding donation in general, and particularly donation for research.

Health professionals' perceptions about the decision-making process in the care of pediatric patients.

Objective: To evaluate the perceptions of physicians, nurses and nursing technicians of their participation in the decision-making process surrounding life support limitation in terminally ill pediatric patients, with comparisons by professional category.

Methods: A cross-sectional study was conducted in the pediatric intensive care unit of a tertiary public university hospital with the participation of physicians, nurses and nursing technicians. The MacArthur Admission Experience Survey Voice Scale was used to assess and quantify the perceptions of professionals who assisted 17 pediatric patients with life support limitation within 24 hours after the outcome of each patient was determined.

Improvement of autism spectrum disorder symptoms in three children by using gastrin-releasing peptide.

Objective: To evaluate the safety, tolerability and potential therapeutic effects of gastrin-releasing peptide in three children with autistic spectrum disorder.

Methods: Case series study with the intravenous administration of gastrin-releasing peptide in the dose of 160pmol/kg for four consecutive days. To evaluate the results, parental impressions the Childhood Autism Rating Scale (CARS) and the Clinical Global Impression (CGI) Scale.

[Perceived coercion of noninstitutionalized elderly patients undergoing research for the diagnosis of temporomandibular joint dysfunction].

Objective: To evaluate perceived coercion (PC) of noninstitutionalized elderly patients undergoing research for the diagnosis of temporomandibular joint dysfunction.

Method: A cross-sectional study conducted with 1,112 elderly individuals aged 60 or older, enrolled in the Family Health Programme of the municipality of Areia, State of Paraíba, Brazil, from January to June 2013. The data collection tool was the Perceived Coercion Scale (PSC).

Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician.

Introduction: cancer is the second leading cause of death in children between the ages of 0 and 14 years, corresponding to approximately 3% of all cases diagnosed in Brazil. A significant percentage (5-10%) of pediatric cancers are associated with hereditary cancer syndromes, including Li-Fraumeni/Li-Fraumeni-like syndromes (LFS/LFL), both of which are caused by TP53 germline mutations. Recent studies have shown that a specific TP53 mutation, known as p.

Genetic information and biobanking: a Brazilian perspective on biological and biographical issues.

This paper aims to discuss the duties of biological resource centres and their administrators concerning the protection of the privacy of the research subjects. Our aim is to discuss the interfaces between biological and biographical issues, related to the social, ethical and legal dimensions of biobanking activity.

Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil.

Despite significant advances in the diagnosis and treatment of genetic diseases in the last two decades, there is still a significant proportion where a causative mutation cannot be identified and a definitive genetic diagnosis remains elusive. New genome-wide or high-throughput multiple gene tests have brought new hope to the field, since they can offer fast, cost-effective and comprehensive analysis of genetic variation. This is particularly interesting in disorders with high genetic heterogeneity.

Genetics and ethics: a possible and necessary dialogue.

Genetics and ethics have had numerous convergences and divergences over time. From Darwin through the Asilomar Conference and the Universal Declaration on the Human Genome and Human Rights, much has been achieved, but much still remains to be done. The use of biological materials that are already being stored and the adequacy of new technologies, such as clustered regularly interspaced short palindromic repeats (CRISPR), are some of the current challenges of this possible and necessary interaction.