The impact and user experience of a student-led clinic providing preventative services.

OBJECTIVES: Preventative services are required to address the risk factors for chronic conditions such as cardiovascular disease. The National Health Service Health Checks in England were introduced to provide such services. One School of Pharmacy established a student-led clinic to provide this service to the local community. The clinic was provided by undergraduate pharmacy students and delivered free of charge within a central city locality. The aim was to explore the impact of the clinic on user thoughts and motivations around healthy living and investigate user experience. METHODS: A sequential explanatory mixed methods approach was used consisting of a survey that measured users' thoughts about their health and well-being and experience of the clinic. Qualitative interviews explored the user experience and barriers and facilitators to making healthier lifestyle choices. RESULTS: One hundred and fifty-four members of the public accessed the clinic over the evaluative period. Ninety-six (60%) completed the pre-post survey and 12 participated in follow-up interviews. Users reported statistically significant improvements in how informed, competent and motivated they felt towards making healthier lifestyle choices after the clinic consultation. Interview findings highlighted the positive user experience, reported appreciation for clinic accessibility, availability of healthy lifestyle education, and a desire for more preventative services being as readily available. CONCLUSIONS: The student-led clinic has demonstrated positive impacts on user experience, knowledge, competence, and motivation to make healthier lifestyle choices. The clinic provides proof-of-concept for pharmacy students to deliver preventative community services that aim to improve population health at a time when primary care is experiencing unprecedented challenges.

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.

Importance: YARS2 mutations have been associated with a clinical triad of myopathy, lactic acidosis, and sideroblastic anemia in predominantly Middle Eastern populations. However, the identification of new patients expands the clinical and molecular spectrum of mitochondrial disorders. Objectives: To review the clinical, molecular, and genetic features of YARS2-related mitochondrial disease and to demonstrate a new Scottish founder variant. Design, Setting, and Participants: An observational case series study was conducted at a national diagnostic center for mitochondrial disease in Newcastle upon Tyne, England, and review of cases published in the literature. Six adults in a well-defined mitochondrial disease cohort and 11 additional cases described in the literature were identified with YARS2 variants between January 1, 2000, and January 31, 2015. Main Outcome and Measures: The spectrum of clinical features and disease progression in unreported and reported patients with pathogenic YARS2 variants. Results: Seventeen patients (median [interquartile range] age at onset, 1.5 [9.8] years) with YARS2-related mitochondrial myopathy were identified. Fifteen individuals (88%) exhibited an elevated blood lactate level accompanied by generalized myopathy; only 12 patients (71%) manifested with sideroblastic anemia. Hypertrophic cardiomyopathy (9 [53%]) and respiratory insufficiency (8 [47%]) were also prominent clinical features. Central nervous system involvement was rare. Muscle studies showed global cytochrome-c oxidase deficiency in all patients tested and severe, combined respiratory chain complex activity deficiencies. Microsatellite genotyping demonstrated a common founder effect shared between 3 Scottish patients with a p.Leu392Ser variant. Immunoblotting from fibroblasts and myoblasts of an affected Scottish patient showed normal YARS2 protein levels and mild respiratory chain complex defects. Yeast modeling of novel missense YARS2 variants closely correlated with the severity of clinical phenotypes. Conclusions and Relevance: The p.Leu392Ser variant is likely a newly identified founder YARS2 mutation. Testing for pathogenic YARS2 variants should be considered in patients presenting with mitochondrial myopathy, characterized by exercise intolerance and muscle weakness even in the absence of sideroblastic anemia irrespective of ethnicity. Regular surveillance and early treatment for cardiomyopathy and respiratory muscle weakness is advocated because early treatment may mitigate the significant morbidity and mortality associated with this genetic disorder.