The Minimum Data Set for Rare Diseases: Systematic Review.

BACKGROUND: The minimum data set (MDS) is a collection of data elements to be grouped using a standard approach to allow the use of data for clinical and research purposes. Health data are typically voluminous, complex, and sometimes too ambiguous to generate indicators that can provide knowledge and information on health. This complexity extends further to the rare disease (RD) domain. MDSs are essential for health surveillance as they help provide services and generate recommended population indicators. There is a bottleneck in international literature that reveals a global problem with data collection, recording, and structuring in RD. OBJECTIVE: This study aimed to identify and analyze the MDSs used for RD in health care networks worldwide and compare them with World Health Organization (WHO) guidelines. METHODS: The population, concept, and context methodology proposed by the Joanna Briggs Institute was used to define the research question of this systematic review. A total of 4 databases were reviewed, and all the processes were reported using the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) methodology. The data elements were analyzed, extracted, and organized into 10 categories according to WHO digital health guidelines. The quality assessment used the STROBE (Strengthening the Reporting of Observational Studies in Epidemiology) checklist. RESULTS: We included 20 studies in our review, 70% (n=14) of which focused on a specific health domain and 30% (n=6) of which referred to RD in general. WHO recommends that health systems and networks use standard terminology to exchange data, information, knowledge, and intelligence in health. However, there was a lack of terminological standardization of the concepts in MDSs. Moreover, the selected studies did not follow the same standard structure for classifying the data from their MDSs. All studies presented MDSs with limitations or restrictions because they covered only a specific RD, or their scope of application was restricted to a specific context or geographic region. Data science methods and clinical experience were used to design, structure, and recommend a fundamental global MDS for RD patient records in health care networks. CONCLUSIONS: Our study highlights the difficulties in standardizing and categorizing findings from MDSs for RD because of the varying structures used in different studies. The fundamental RD MDS designed in this study comprehensively covers the data needs in the clinical and management sectors. These results can help public policy makers support other aspects of their policies. We highlight the potential of our results to help strategic decisions related to RD. TRIAL REGISTRATION: PROSPERO CRD42021221593; https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=221593. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): RR2-10.1016/j.procs.2021.12.034.

Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).

The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated by the Brazilian Public Health System, and 18 specialised centres have so far been established at university hospitals (UH) in the capitals of the Southern, Southeastern and Northeastern regions. However, whether the available human and technological resources in these services are appropriate and sufficient to achieve the goals of care established by the BPCCPRD is unknown. Despite great advances in diagnosis, especially due to new technologies and the recent structuring of clinical assessment of RD in Brazil, epidemiological data are lacking and when available, restricted to specific disorders. This position paper summarises the performance of a nationally representative survey on epidemiology, clinical status, and diagnostic and therapeutic resources employed for individuals with genetic and non-genetic RD in Brazil. The Brazilian Rare Disease Network (BRDN) is under development, comprising 40 institutions, including 18 UH, 17 Rare Diseases Reference Services and five Newborn Screening Reference Services. A retrospective study will be initially conducted, followed by a prospective study. The data collection instrument will use a standard protocol with sociodemographic data and clinical and diagnostic aspects according to international ontology. This great collaborative network is the first initiative of a large epidemiological data collection of RD in Latin America, and the results will increase the knowledge of RD in Brazil and help health managers to improve national public policy on RD in Brazil.

The effects of acute exercise on memory of cognitively healthy seniors: A systematic review.

OBJECTIVE: To systematically review the acute effects of physical exercise on memory in healthy elderly people. METHODS: The present study consists of a systematic review based on the criteria of the Preferred Reporting Items for Systematic Reviews and Meta - Analyzes (PRISMA). Searches were carried out in the health databases: PubMed (Medline); ScienceDirect (Elsevier); SciELO, Cochrane and LILACS, including articles published until April 2021. The included studies should be randomized clinical trials in healthy elderly populations, have acute physical exercise as an intervention compared to another type of exercise or to a control session, and assess memory as an outcome. RESULTS: A total of 3711 records were found in the databases. After reading titles and abstracts, 27 full texts of studies were selected. A total of 10 records met the inclusion criteria and were considered eligible for qualitative analysis. The total sample consisted of 465 healthy individuals, of both sexes, aged between 60 and 95 years. The aerobic and resistance exercises performed at low (7-11 Borg scale, 54% FCM or 40-54% 1RM) and moderate intensities (12-15 Borg scale, 50-70% FCM and 55-75% 1RM) lead to memory improvement in cognitively healthy elderly people. CONCLUSIONS: The paucity of studies with this population, using higher exercise intensities, as well as a reduced variety of memory tests, were limiting factors. Maintaining a training routine is important, in order to preserve physical and mental health. More studies addressing the effects of exercise protocols in healthy individuals are warranted.

Indicadores de Qualidade na condução de estudos clínicos / Quality indicators in the conduct of clinical studies

Introdução: A geração, análise e difusão de indicadores pertinentes é uma das estratégias fundamentais do processo de gestão de qualidade. Indicadores são mensurações que avaliam direta ou indiretamente os processos e desfechos da assistência ao participante de pesquisa. Padrões rigorosos de qualidade garantirão a validade dos dados obtidos nos estudos clínicos. Métodos: Estudo transversal descritivo e analítico, com dados coletados no Centro de Pesquisa Clínica de um Hospital Universitário, durante Novembro/2016 a Fevereiro/2019 quanto ao tempo de inclusão de dados no electronic case report form (IID), tempo de comunicação de desvios de protocolo ao Comitê de Ética em Pesquisa (ICD), tempo de resposta aos feasibilities recebidos (IRF) e tempo de resposta às pendências de monitoria (IRP). Resultados: Variações substanciais foram encontradas entre os escores de qualidade ao longo de 27 meses. O desempenho geral da equipe do Escritório de Projetos em Pesquisa alcançou a classificação excelente ou satisfatória em 61,40% das observações: 50,87% e 10,52% respectivamente. Entre 38,59% de observações críticas, 17,54% foram expressas pelo IRP, seguido de 12,28% por ICD e 7% atribuído ao IID que não atingiram a meta proposta. Conclusão: O Escritório de Projetos em Pesquisa elencou dois indicadores de qualidade, IID e IRP, que podem melhorar o tempo e a eficácia das entregas propostas da equipe. (AU)

Introduction: The generation, analysis and dissemination of relevant indicators is a fundamental strategy in the quality management process. Indicators are measurements that directly or indirectly evaluate the processes and outcomes of the care provided to research participants. Rigorous quality standards will guarantee the validity of the data obtained in clinical studies. Methods: This descriptive, analytical cross-sectional study collected data at the Clinical Research Center of a University Hospital, covering the period from November 2016 to February 2019, regarding the time of data inclusion in the electronic case report form (IID), communication of protocol deviations to the Research Ethics Committee (ICD), response time to received feasibilities (IRF) and response time to monitoring pending issues (IRP). Results: Substantial variations were found between quality scores in a period of 27 months. The overall performance of the Research Project Office team was excellent or satisfactory in 61.40% of the observations (50.87% and 10.52% respectively). Among critical observations (38.59%), 17.54% were expressed by IRP, 12.28% by ICD and 7% by IID, indicating those that did not reach the proposed target. Conclusions: The Research Project Office has listed two quality indicators, IID and IRP, which can improve the time and effectiveness of team deliveries.(AU)