Ir J Med Sci
December 2022
Background: Mutations in the alpha-sarcoglycan gene cause limb-girdle muscular dystrophy 2D, an autosomal recessive muscle wasting disorder primarily affecting the muscles of the shoulder and pelvic girdles. To date, no previous study has collated all known mutations in alpha-sarcoglycan and mapped these to the associated phenotypes.
Aims: To examine for correlations between mutation locations, or mutation type, and the phenotype caused in all reported mutations in alpha-sarcoglycan.
Omalizumab is an anti-IgE monoclonal antibody used in severe allergic asthma. Herein, we describe a case of eosinophilic granulomatosis with polyangiitis, which manifested 3 months after initiation of omalizumab therapy, while maintenance corticosteroid therapy dose was unchanged.
View Article and Find Full Text PDFIntroduction: Patients with advanced-stage head and neck cancers (HNC) endure a significant symptom burden and suffer greatly towards the end of their lives. Qualitative evidence can provide insight into how existing services meet their needs. We aimed to synthesise qualitative data from patients with advanced HNC and their carers to inform improvements to services and care.
View Article and Find Full Text PDFBackground: The 2019 novel coronavirus pandemic has generated concern from stroke specialist centres across the globe. Reductions in stroke admissions have been reported, despite many expecting an increase due to the pro-thrombotic nature of 2019 novel coronavirus.
Aims: To assess the impact of the pandemic and subsequent lockdown on stroke admissions and transient ischaemic attack referrals at the Royal Victoria Infirmary, Newcastle-Upon-Tyne, and additionally on patient behaviours affecting modifiable risk factors or perspectives related to accessing healthcare.