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Characterising cystic fibrosis in African populations: a scoping review protocol on phenotype, diagnosis, genetics and barriers to care

Por: Ratner · L. · Marangu-Boore · D. · Hamouda · S. · Kwarteng Owusu · S. · Eze · J. · Dakshi · A. · Wordui · S. · Hamdy · A. · Owusu · S. A. · Weldetsadik · Y. · Uluer · A. · Daimi · H. · El Makhzen · N. · Abriel · H. · Nasr · S. · Moosa · S. · Swanson · C. · Cronin · A. E. · Zampoli · M.
Introduction

Cystic fibrosis (CF) is a life-shortening genetic disorder traditionally mischaracterised as affecting only populations of European descent. This framing has contributed to under-recognition of CF in African populations, despite emerging evidence of both common and region-specific cystic fibrosis transmembrane conductance regulator mutations across the continent. Diagnostic barriers, structural inequities and lack of surveillance further exacerbate disparities in care and visibility.

Methods and analysis

This scoping review aims to characterise CF in African populations by synthesising evidence on clinical presentation, diagnostic practices, genotypic diversity, prevalence and structural barriers to care. We will include case reports, cohort studies, registry analyses and other primary data sources involving individuals of African descent with suspected or confirmed CF. Key outcomes include clinical phenotype, age at diagnosis, mutation profile, diagnostic testing access and mortality. Data sources include Ovid Medline, Embase, Ebsco Global Health, CAB Abstracts and Web of Science Core Collection. Multiple-reviewer screening and extraction will be conducted. We will use narrative synthesis, thematic analysis and meta-analysis for prevalence where feasible.

Ethics and dissemination

No ethical approval is required as the review uses published data. Results will be shared with clinicians, researchers and CF networks in Africa and globally to inform diagnostic strategies and policy.

Clinical application of dynamic visual acuity for detection of eye diseases: a scoping review protocol

Por: Tagoh · S. · Kwarteng · M. A. · March De Ribot · F.
Introduction

Many eye diseases are asymptomatic in their early stages; thus, timely detection is essential for improved outcomes. Dynamic visual acuity (DVA)—the ability to perceive moving targets—has been reported as a valuable screening tool for early disease detection. However, unlike static visual acuity, DVA is not routinely assessed in the eye clinic, perhaps due to a lack of standardised measurement protocols and limited understanding among clinicians of its physiological and diagnostic relevance. This scoping review aims to assess the evidence on DVA; provide insight into its physiological basis, measurement techniques and potential for early detection of disease; and identify research gaps to inspire future studies.

Methods and analysis

The review will follow the Joanna Briggs Institute guidelines and will involve all relevant articles, including reviews and original studies published in online databases such as PubMed, Medline, Web of Science, Google Scholar, Scopus, Cumulative Index to Nursing and Allied Health Literature, EMBASE, Global Health and ScienceDirect. Also, a reference list of relevant articles will be searched, and insight from expert consultations and information from grey literature will be included in the review. Studies conducted with human subjects and in English, irrespective of the year of publication or study design, will be reviewed. Two independent reviewers will screen identified articles, with a third reviewer confirming findings. The data extraction tool will be tested in a pilot review, and the findings will be presented using tables and visual summaries.

Ethics and dissemination

No ethical approval is required. Findings will be presented at national and international conferences and published in peer-reviewed journals.

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