Irish journal of medical science
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Variants in PARKIN, PINK1, and DJ1 are associated with early-onset Parkinson' disease (EOPD, age-at-onset < 45). We previously reported a single PINK1 and a single DJ1 heterozygous variant carrier. ⋯ These findings suggest that PINK1 and DJ1 are rarely associated with Irish YOPD, while PARKIN variant frequency is similar to that reported worldwide.
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Mutations in mitochondrial DNA (mtDNA) are the most important causes for Leber's hereditary optic neuropathy (LHON). Of these, three primary mtDNA mutations account for more than 90% cases of this disease. However, to date, little is known regarding the relationship between mitochondrial tRNA (mt-tRNA) variants and LHON. ⋯ Our study indicated that mt-tRNA variants were associated with LHON, and screening for mt-tRNA variants were recommended for early detection, diagnosis, and prevention of maternally inherited LHON.
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Worldwide, many people have been affected by COVID-19, a novel respiratory illness, caused by a new type of coronavirus SARS-CoV2. The COVID-19 outbreak is considered a pandemic and has created a number of challenges for the general population, patients, and healthcare professionals. Lockdowns have been implemented to slow down the spread of the virus with the expectation that these restrictions will limit the number of cases, and hence the number of hospitalizations and ICU admissions. However, these restrictions, and in particular lockdowns, impact on the life of everyone living in Ireland. ⋯ As a result of the COVID-19 pandemic, a number of restrictive measures, in particular lockdown, were implemented in Ireland to protect populations and healthcare systems. To record some of the major impacts on society, we launched a Corona Citizens Science Project, with the aim to support decision-making. This report provides detail of its findings.
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SCD patients experience declines in health-related quality of life (HRQOL) domains compared with healthy controls. Despite evidence supporting the benefits of hydroxyurea, medication non-adherence remains problematic, especially in adolescents and young adults (AYA). Adherence barriers include forgetfulness and lack of knowledge. Recently, increased interest in technology-based strategies to improve medication adherence has emerged. No data currently exists on hydroxyurea adherence, HRQOL or perceptions of technology-based tools in the Irish SCD population. ⋯ Representing over 10% of the Irish SCD population, our survey provides novel and valuable insights into medication adherence and HRQOL domains. Preferred app features may inform future technology-based interventions to improve medication adherence in SCD and other chronic health conditions.
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Restrictions as a result of the COVID-19 pandemic have demanded an innovative approach to provide appropriate patient review. We have been running virtual cardiology clinics as per Health Service Executive guidance. ⋯ This study highlights that virtual clinic consultations are associated with fewer investigations, fewer management changes, and increased discharge rates compared with traditional consultations. These practice changes would reduce costs and hospital outpatient congestion by avoiding unnecessary hospital reviews. Nonetheless, it is unknown whether patients requiring face-to-face consultations could be missed as a result of this virtual approach. Longitudinal studies are required to assess clinical outcomes as a result of these practice changes and whether patient satisfaction is altered.