Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.

Introduction: Inherited retinal dystrophies (IRDs) represent a genetically diverse group of progressive, visually debilitating diseases. Adult and paediatric patients with vision loss due to IRD caused by biallelic mutations in the 65-kDa retinal pigment epithelium (RPE65) gene are often clinically diagnosed as retinitis pigmentosa (RP), and Leber congenital amaurosis (LCA). This study aimed to understand the epidemiological landscape of RPE65 gene-mediated IRD through a systematic review of the literature, as the current evidence base for its epidemiology is very limited.

Impact of cough and mucus on COPD patients: primary insights from an exploratory study with an Online Patient Community.

Qualitative research provides real-life information on patients' condition and facilitates informed design of future clinical studies. We used Online Communities as a qualitative research tool to evaluate the effect of cough and mucus on COPD patients. Two 2-week Online Communities were run in parallel in the UK and in the USA, including COPD patients with persistent cough and excessive mucus.

Patients' perspectives on COPD: findings from a social media listening study.

We utilised social media listening (SML) to obtain patients' perspectives on symptoms, diagnosis and comorbidities associated with chronic obstructive pulmonary disease (COPD) and its impact on patients' quality of life (QoL). A comprehensive search on social media platforms was performed for English language content posted between July 2016 and January 2018 using COPD-related terms. Social Studio, a social media data aggregator tool, was used to capture relevant records.