scholarly journals Protocol for a scoping review of multi-omic analysis for rare diseases

BMJ Open ◽  
2019 ◽  
Vol 9 (5) ◽  
pp. e026278 ◽  
Author(s):  
Katie Kerr ◽  
Helen McAneney ◽  
Amy Jayne McKnight

IntroductionThe development of next generation sequencing technology has enabled cost-efficient, large scale, multiple ‘omic’ analysis, including epigenomic, genomic, metabolomic, phenomic, proteomic and transcriptomic research. These integrated approaches hold significant promise for rare disease research, with the potential to aid biomarker discovery, improve our understanding of disease pathogenesis and identify novel therapeutic targets. In this paper we outline a systematic approach for a scoping review designed to evaluate what primary research has been performed to date on multi-omics and rare disease.Methods and analysisThis protocol was designed using the Joanna Briggs Institute methodology for scoping reviews. Databases to be searched will include: MEDLINE, EMBASE, PubMed, Web of Science, Scopus and Google Scholar for primary studies relevant to the key terms ‘multi-omics’ and ‘rare disease’, published prior to 30thDecember 2018. Grey literature databases GreyLit and OpenGrey will also be searched, as well as reverse citation screening of relevant articles and forward citation searching using Web of Science Cited Reference Search Tool. Data extraction will be performed using customised forms and a narrative synthesis of the results will be presented.Ethics and disseminationAs a secondary analysis study with no primary data generated, this scoping review does not require ethical approval. We anticipate this review will highlight a gap in rare disease research and provide direction for novel research. The completed review will be submitted for publication in peer-reviewed journals and presented at relevant conferences discussing rare disease research and/or molecular strategies.

2021 ◽  
Author(s):  
Mohammed Zayan Nizam ◽  
Leigh Powell ◽  
Nabil Zary

BACKGROUND Conversational agents can reach people where they are at, existing online, on mobile phones, or even through hardware like Alexa and Siri, making information easier to access and providing an engaging method of interaction. It makes sense that chatbots would also start to emerge to improve public health through health education. While building a chatbot is getting easier, there is still required time and effort. There is also a lack of clarity and consistent terminology about what kinds of chatbots are out there, how they are developed, and the kind of resources needed to develop and sustain them. This lack of clarity makes a daunting task for those seeking to build health education initiatives. Our scoping review seeks to categorize conversational agents in healthcare education in alignment with current classifications and terminology emerging from the marketplace. We will define the terminology of levels of conversational agents, categorize current agents along with these levels and describe the uses, resources, and evaluations common to these levels. OBJECTIVE This scoping review aims to identify literature that reports on the design and implementation of conversational agents to promote and educate the public on matters related to health. METHODS This scoping review will be conducted by employing the Arksey and O’Malley framework. We will also be adhering to the enhancements and updates proposed by Levac et al. and Peters et al. The PRISMA extension for scoping reviews will guide the reporting of this scoping review. A systematic search for published and grey literature will be undertaken from the following databases (1) PubMed, (2) PsychINFO, (2) Embase, (4) Web of Science, (5) SCOPUS, (6) CINAHL, (7) ERIC, (8) MEDLINE, (9) Google Scholar. Data charting will be done using a structured format. RESULTS Initial searches of the databases retrieved 1,480 results. The results will be presented in the final scoping review in both a narrative and illustrative manner. CONCLUSIONS Reviewers have previously explored conversational agents in health. However, to the authors' knowledge, there has been no review conducted in the specific area of our interest –Health Education. Therefore, this review will provide a map of the literature in this area and clarify and define the heterogeneous terms found in the literature. This information will help healthcare professionals and administrators to understand what kinds of chatbots would be appropriate in their setting. And through our charted data could also help them understand what kind of resources or expertise is required for the different chatbots in use.


2021 ◽  
Vol 10 (1) ◽  
Author(s):  
M. F. Van den Bosch ◽  
C. M. Wiepjes ◽  
M. Den Heijer ◽  
L. J. Schoonmade ◽  
R. E. G. Jonkman ◽  
...  

Abstract Background Gender-affirming hormone (GAH) therapy aims to support the transition of transgender people to their gender identity. GAHs can induce changes in their secondary sex characteristics such as the development of breasts in transgender females and increased muscle mass in transgender males. The face and its surrounding tissues also have an important role in gender confirmation. The aim of this scoping review is to systematically map the available evidence in order to provide an overview of the effects of GAH therapy on the hard and soft tissues of the craniofacial complex in transgender people. Methods/design The Preferred Reporting Items for Systematic Reviews and Meta-Analyses Protocols (PRISMA) extension for Scoping Reviews was consulted for reporting this protocol. The methods were based on the Arksey and O’Malley’s framework and the Reviewer’s Manual of the Joanna Briggs Institute for conducting scoping reviews. Ten transgender people were involved in the development of the primary research question through short interviews. The eligibility criteria were defined for transgender people undergoing GAH therapy and for quantitative and qualitative outcomes on the hard and soft tissues of the craniofacial complex. Eligible sources of evidence include observational, experimental, qualitative, and mixed method studies. No exclusion criteria will be applied for the language of publication and the setting. To identify eligible sources of evidence, we will conduct searches from inception onwards in PubMed, Embase.com, the Cochrane Library, Web of Science Core Collection, Scopus, CINAHL, LIVIVO, and various grey literature sources such as Google Scholar. Two reviewers will independently select eligible studies in these information sources and will subsequently conduct data extraction. The same operators will chart, categorize, and summarize the extracted data. A narrative summary of findings will be conducted. Frequency counts of quantitative and qualitative data on items such as concepts, populations, interventions, and other characteristics of the eligible sources will be given. Where possible, these items will be mapped descriptively. Discussion We chose the scoping review over the systematic review approach, because the research questions are broad-spectrum and the literature is expected to be widely scattered. No systematic review has previously assessed this topic. Identifying knowledge gaps in this area and summarizing and disseminating research findings are important for a wide spectrum of stakeholders, in particular, for transgender people who want to undergo additional interventions such as plastic or orthognathic surgery or orthodontics. Systematic review registration This protocol was registered in the Open Science Framework: https://osf.io/e3qj6


BMJ Open ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. e041894
Author(s):  
Joyce Kibaru ◽  
Pinky Kotecha ◽  
Abdulkarim Muhammad Iya ◽  
Beth Russell ◽  
Muzzammil Abdullahi ◽  
...  

IntroductionBladder cancer (BC) is the 10th common cancer worldwide and ranks seventh in Nigeria. This scoping review aims to identify the gaps in clinical care and research of BC in Nigeria as part of the development of a larger national research programme aiming to improve outcomes and care of BC.Methods and analysisThis review will be conducted according to Arksey and O’Malley scoping review methodology framework. The following electronic databases will be searched: Medline (using the PubMed interface), Ovid Gateway (Embase and Ovid), Cochrane library and Open Grey literature. Two independent reviewers will screen titles and abstracts and subsequently screen full-text studies for inclusion, any lack of consensus will be discussed with a third reviewer. Any study providing insight into the epidemiology or treatment pathway of BC (RCTs, observations, case series, policy paper) will be included. A data chart will be used to extract relevant data from the included studies. Results will be reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews. A consultation process will be carried out with a multidisciplinary team of Nigerian healthcare professionals, patients and scientists.Ethics and disseminationThe results will be disseminated through peer-reviewed publications. By highlighting the key gaps in the literature, this review can provide direction for future research and clinical guidelines in Nigeria (and other low-income and middle-income countries), where BC is more prevalent due to local risk factors and healthcare settings.


2021 ◽  
Vol 29 (Supplement_1) ◽  
pp. i23-i24
Author(s):  
M Murphy ◽  
K Bennett ◽  
S Ryan ◽  
C Hughes ◽  
A Lavan ◽  
...  

Abstract Introduction Older adults with cancer often require multiple medications (polypharmacy) comprising cancer-specific treatments, supportive care medications (e.g. analgesics) and medications for pre-existing conditions. The reported prevalence of polypharmacy in older adults with cancer ranges from 13–92% (1). Increasing numbers of medications pose risks of potentially inappropriate prescribing and medication non-adherence. Aim The aim of this scoping review was to provide an overview of evaluations of interventions to optimise medication prescribing and/or adherence in older adults with cancer, with a particular focus on the interventions, study populations and outcome measures that have been assessed in previous evaluations. Methods Four databases (PubMed, EMBASE, CINAHL, PsycINFO) were searched from inception to 29th November 2019 using relevant search terms (e.g. cancer, older adults, prescribing, adherence). Eligible studies evaluated interventions seeking to improve medication prescribing and/or adherence in older adults (≥65 years) with an active cancer diagnosis using a comparative evaluation (e.g. inclusion of a control group). All outcomes for studies that met inclusion criteria were included in the review. Two reviewers independently screened relevant abstracts for inclusion and performed data extraction. As a scoping review aims to provide a broad overview of existing literature, formal assessments of methodological quality of included studies were not undertaken. Extracted data were collated using tables and accompanying narrative descriptive summaries. The review was reported in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews (PRISMA-ScR) guidelines (2). Results The electronic searches yielded 21,136 citations (Figure 1). Nine studies met inclusion criteria. Included studies consisted of five randomised controlled trials (RCTs), including one cluster RCT, and four before-and-after study designs. Studies were primarily conducted in oncology clinics, ranging from single study sites to 109 oncology clinics. Sample sizes ranged from 33 to 4844 patients. All studies had a sample population with a mean/median age of ≥65 years, however, only two studies focused specifically on older populations. Interventions most commonly involved patient education (n=6), and were delivered by pharmacists or nurses. Five studies referred to the intervention development process and no studies reported any theoretical underpinning. Three studies reported on prescribing-related outcomes and seven studies reported on adherence-related outcomes, using different terminology and a range of assessments. Prescribing-related outcomes comprised assessments of medication appropriateness (using Beers criteria), drug-related problems and drug interactions. Adherence-related outcomes included assessments of self-reported medication adherence and calculation of patients’ medication possession ratio. Conclusion The main strength of this scoping review is that it provides a broad overview of the existing literature on interventions aimed at optimising medication prescribing and adherence in older adults with cancer. The review highlights a lack of robust studies specifically targeting this patient population and limited scope to pool outcome data across included studies. Limitations of the review were that searches were restricted to English language publications and no grey literature was searched. Future research should focus specifically on older patients with cancer, and exercise rigour during intervention development, evaluation and reporting in order to generate findings that could inform future practice. References 1. Maggiore RJ, Gross CP, Hurria A. Polypharmacy in older adults with cancer. The oncologist. 2010;15(5):507–22. 2. Tricco AC, Lillie E, Zarin W, O'Brien KK, Colquhoun H, Levac D, et al. PRISMA Extension for Scoping Reviews (PRISMA-ScR): Checklist and Explanation. Ann Intern Med. 2018;169(7):467–73.


2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Navin Kumar ◽  
Kamila Janmohamed ◽  
Kate Nyhan ◽  
Laura Forastiere ◽  
Wei-Hong Zhang ◽  
...  

Abstract Background Global responses to the COVID-19 pandemic have exposed and exacerbated existing socioeconomic and health inequities that disproportionately affect the sexual health and well-being of many populations, including people of color, ethnic minority groups, women, and sexual and gender minority populations. Although there have been several reviews published on COVID-19 and health disparities across various populations, none has focused on sexual health. We plan to conduct a scoping review that seeks to fill several of the gaps in the current knowledge of sexual health in the COVID-19 era. Methods A scoping review focusing on sexual health and COVID-19 will be conducted. We will search (from January 2020 onwards) CINAHL, Africa-Wide Information, Web of Science Core Collection, Embase, Gender Studies Database, Gender Watch, Global Health, WHO Global Literature on Coronavirus Disease Database, WHO Global Index Medicus, PsycINFO, MEDLINE, and Sociological Abstracts. Grey literature will be identified using Disaster Lit, Google Scholar, governmental websites, and clinical trials registries (e.g., ClinicalTrial.gov, World Health Organization, International Clinical Trials Registry Platform, and International Standard Randomized Controlled Trial Number Registry). Study selection will conform to the Joanna Briggs Institute Reviewers’ Manual 2015 Methodology for JBI Scoping Reviews. Only English language, original studies will be considered for inclusion. Two reviewers will independently screen all citations, full-text articles, and abstract data. A narrative summary of findings will be conducted. Data analysis will involve quantitative (e.g., frequencies) and qualitative (e.g., content and thematic analysis) methods. Discussion Original research is urgently needed to mitigate the risks of COVID-19 on sexual health. The planned scoping review will help to address this gap. Systematic review registrations Systematic Review Registration: Open Science Framework osf/io/PRX8E


2021 ◽  
Vol 103-B (7) ◽  
pp. 1189-1196
Author(s):  
Iain R. Murray ◽  
Navnit S. Makaram ◽  
Scott A. Rodeo ◽  
Marc R. Safran ◽  
Seth L. Sherman ◽  
...  

Aims The aim of this study was to prepare a scoping review to investigate the use of biologic therapies in the treatment of musculoskeletal injuries in professional and Olympic athletes. Methods Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) extension for scoping reviews and Arksey and O’Malley frameworks were followed. A three-step search strategy identified relevant published primary and secondary studies, as well as grey literature. The identified studies were screened with criteria for inclusion comprising clinical studies evaluating the use of biologic therapies in professional and Olympic athletes, systematic reviews, consensus statements, and conference proceedings. Data were extracted using a standardized tool to form a descriptive analysis and a thematic summary. Results A total of 202 studies were initially identified, and 35 met criteria for the scoping review; 33 (94.3%) were published within the last eight years, and 18 (51.4%) originated from the USA. Platelet rich plasma was the most studied biologic therapy, being evaluated in 33 (94.3%) studies. Ulnar collateral ligament and hamstring injuries were the conditions most studied (nine (25.7%) studies and seven (20.0%) studies, respectively). Athletes most frequently participated in baseball, soccer, and American football. Only two (5.7%) studies were level 1 evidence, with interpretation and comparison between studies limited by the variations in the injury profile, biologic preparations, and rehabilitation protocols. Conclusion There is diverse use of biologic therapies in the management of musculoskeletal injuries in professional and Olympic athletes. There is currently insufficient high-level evidence to support the widespread use of biologic therapies in athletes. Further research priorities include the development of condition/pathology-specific preparations of biologic therapies, and of outcome measures and imaging modalities sufficiently sensitive to detect differences in outcomes, should they exist. Cite this article: Bone Joint J 2021;103-B(7):1189–1196.


2021 ◽  
Vol 37 (5) ◽  
pp. 421-434
Author(s):  
Susana Pereira Costa ◽  
◽  
Inês Lopes Antunes ◽  
Ana Margarida Gomes ◽  
Cláudia Ho ◽  
...  

Objetivos: Resumir as informações publicadas acerca dos problemas de coagulação em adultos com SARS-CoV-2, incluindo características, fisiopatologia, diagnóstico e resposta ao uso profilático ou terapêutico de anticoagulantes ou antiagregantes plaquetários. Métodos: Realizada uma revisão abrangente, de acordo com as guidelines Joanna Briggs Institute Guidelines on Scoping Reviews e Preferred Reporting Items for Systematic Reviews and Meta-Analyses Scoping Review guidelines (PRISMA-ScR). Efetuada pesquisa nas bases de dados MEDLINE®, SciELO® e Web of Science® entre 1 e 2 de maio de 2020. A seleção dos artigos foi dividida em etapas sequenciais considerando: título, resumo e artigo integral. Em cada etapa os artigos foram aceites ou rejeitados tendo em conta os critérios de inclusão e exclusão. Foi feito o mapeamento dos dados e a evidência relevante foi sumarizada. Resultados: Após seleção obtiveram-se 106 artigos. Destes, 36 correspondiam a cartas, 28 a estudos originais, 25 a revisões e 14 a relatos de caso; uma meta-análise, um comentário e um consenso também foram incluídos. Os resultados mostraram associação entre COVID-19 e complicações trombóticas, embora com diferentes tipos de eventos e taxas de frequência. A tríade inflamação, disfunção endotelial e coagulopatia parecem estar subjacentes às alterações fisiopatológicas. As técnicas laboratoriais e de imagem podem ser úteis para uma intervenção adequada. A profilaxia com anticoagulantes parentéricos, preferencialmente heparina de baixo peso molecular (HBPM) em dose intermédia, entre as comummente utilizadas para profilaxia ou tratamento, está indicada em pacientes hospitalizados, especialmente com doença grave. Deve ser mantida por um período variável após a alta, dependendo do doente. A anticoagulação terapêutica parece não diferir de outras situações previamente conhecidas. Conclusões: Várias incertezas persistem na abordagem dos problemas da coagulação em pacientes com infeção por SARS-CoV-2. As informações existentes dizem respeito principalmente ao contexto hospitalar e têm origem em fontes pouco robustas. Assim, são necessários ensaios clínicos aleatorizados e controlados para sustentar as decisões clínicas em todos os estadios.


2022 ◽  
Vol 11 (1) ◽  
pp. e40811125217
Author(s):  
Anyele Albuquerque Lima ◽  
Alda Graciele Claudio dos Santo Almeida ◽  
Izabelly Carollynny Maciel Nunes ◽  
Patrícia de Albuquerque Sarmento ◽  
Wanda Tenório Barros Passos Alves

Objetivos: Identificar complicações/sequelas renais decorrentes da infecção por SARS-CoV-2 em pessoas com COVID-19; e descrever a característica de idade da população estudada. Metodologia: Scoping Review realizada nas bases de dados Web of Science, BVS, Cochrane Library, MEDLINE/PubMed, CINAHL, SCOPUS, Embase, LILACS. E nos sites online: ProQuest Dissertations and Theses, Grey Literature e Google Scholar. Os descritores utilizados foram (comorbidity OR sequel OR complications), (kidney diseases OR glomerular disease OR acute kidney injury OR nephropathy) AND (coronavirus OR SARS-CoV-2 OR COVID-19). Critérios de inclusão: artigos em português, inglês e espanhol, com abordagens metodológicas diversas, disponíveis na íntegra, online, publicados no período de 01 de janeiro de 2020 a 29 de setembro de 2021. E de exclusão: pessoas com diagnósticos prévios de patologias renais agudas e/ou crônicas; cartas ao editor; artigos de opinião; editoriais; e notas. Resultados: Selecionaram-se 10 artigos, que evidenciaram que o processo infeccioso causado pelo SARS-CoV-2 pode iniciar com uma leve proteinúria e hematúria, e evoluir para uma injúria renal aguda causada pela diminuição da capacidade de filtração glomerular, que favorece a retenção de algumas escórias nitrogenadas, causando o aumento dos níveis de creatinina e de ureia. Ademais, informaram que indivíduos entre 52-69 anos foram os mais acometidos. Considerações finais: As complicações/sequelas renais decorrentes da infecção por SARS-CoV-2 são: deposição de imunocomplexos nas células renais, proteinúria, hematúria, aumento da creatinina sérica, aumento da ureia nitrogenada no sangue, diminuição da TFG, e IRA estágio 1, 2 e 3. Tais complicações ocorreram principalmente em pessoas com idade ≥ 52 anos.


2020 ◽  
Vol 17 ◽  
Author(s):  
Brett Williams ◽  
Bronwyn Beovich

Aim This study aimed to examine the quality of published paramedic scoping reviews against pre-existing frameworks to assess the extent to which they fulfil the requirements of this methodological approach. Subsequently, recommendations will be presented regarding improvements for future paramedic scoping reviews. Methods A scoping review was conducted guided by the PRISMA Extension for Scoping Reviews. A literature search was performed in six electronic databases as well as the grey literature to identify previous scoping reviews that focussed on paramedic or emergency medical service personnel. Relevant data were extracted from included articles and presented in narrative and tabular formats. Results The literature search initially identified 475 articles, of which 20 remained after title/abstract and full-text screening. There was a general increase in the number of studies published over time, the majority of articles (80%) had conducted their scoping review utilising published frameworks, and 75% of first authors were paramedics. Although many areas of these reports comply with published guidelines, there was an overall lack of consistency in the specific information included, the level of detail of that information, and the location of information within the reports. Conclusion All paramedic scoping studies should be reported with the use of a published framework to enable standardisation in the reporting, thus facilitating understanding, reproducibility, and utility. The PRISMA Extension for Scoping Reviews provides a checklist and thorough explanations of each step in the reporting process and is recommended for use with all future paramedic scoping reviews.


2021 ◽  
Vol 10 (16) ◽  
pp. e444101623459
Author(s):  
Fabiana Helena da Conceição ◽  
Viviani Aparecida Fraga ◽  
Cristiane Aparecida Silveira Monteiro ◽  
Melissa Santos Nassif ◽  
Isabelle Cristinne Pinto Costa

Objetivo: Este estudo tem como objetivo descrever o protocolo e a metodologia usados para realizar uma revisão de escopo que irá mapear as evidências científicas sobre a espiritualidade no contexto dos cuidados paliativos pediátricos. Metodologia: Trata-se de uma revisão de escopo que será desenvolvida conforme as recomendações do Instituto Joanna Briggs (JBI). Para a redação do estudo, será utilizado o PRISMA Extension for Scoping Reviews (PRISMA-ScR). Uma pesquisa abrangente será realizada nas bases de dados Web of Science, Scopus, Cochrane Library, PubMed, CINAHL e EMBASE, além da busca de literatura cinzenta nas bases Google Scholar, ProQuest e OpenGrey, sem limitação quanto ao ano de publicação e idioma. Além disso, será realizada busca adicional de artigos por meio da leitura das referências dos estudos incluídos na revisão. Serão incluídos estudos primários e secundários que abordem a espiritualidade no contexto dos cuidados paliativos pediátricos, independentemente do tipo de delineamento. Serão excluídos documentos do tipo cartas, comentários, editoriais e artigos de opinião. A seleção dos estudos por meio da leitura dos títulos, resumos e texto completo será conduzida por dois revisores independentes. A extração de dados será realizada por meio de formulário construído pelos autores com base nas recomendações do JBI. Os dados serão organizados, resumidos e analisados quanto à extensão, natureza, distribuição e padrões recorrentes e os resultados serão comunicados narrativamente e por meio de mapas de rede. Considerações finais: Espera-se que os resultados provenientes da realização desta revisão de escopo possam contribuir para o fortalecimento da utilização do cuidado espiritual às crianças sob os cuidados paliativos, com o escopo de promover uma melhor qualidade de vida para ela e seus familiares. Adicionalmente, pretende-se por meio dessa pesquisa estimular os profissionais de saúde a atender essa dimensão durante o cuidado à crianças sob os cuidados paliativos, com vistas a proporcionar um cuidado humanizado e uma assistência espiritual de qualidade que possam ajudá-los na busca de um significado para a vida, no alívio de dores e que facilitem a lidar com a angústia e o medo que permeiam esse processo.


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