Irish journal of medical science
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Inherited cardiomyopathies (HCM, DCM, ACM) and cardiac ion channelopathies (long QT/Brugada syndromes, CPVT) are associated with significant morbidity and mortality; however, diagnosis of a familial pathogenic variant in a proband allows for subsequent cascade screening of their at-risk relatives. ⋯ Our study highlights the importance of collation and review of pre-ACMG genetic variants to increase diagnostic utility of genetic testing for inherited heart disease. Almost half of patients with pre-ACMG VUS reviewed had their variant re-classified to likely pathogenic/likely benign which resulted in a positive clinical impact for patients and their families.
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Oxidative stress results from an imbalance between the induction of reactive oxygen species and the ability of cells to metabolize them. Numerous markers can be used to assess the level of oxidative stress. Thiol-disulfide homeostasis (TDH) and ischemia-modified albumin (IMA) are some of them. The aim of this study is to investigate the role of TDH and IMA, which are indicators of oxidative stress, in older patients with osteosarcopenia (OS). ⋯ In our study, the role of oxidative stress in OS was demonstrated by using TDH as an oxidative stress parameter.
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Review Meta Analysis
Primary closure versus vertical rectus abdominis myocutaneous (VRAM) flap closure of perineal wound following abdominoperineal resection-a systematic review and meta-analysis.
Perianal wound healing and/or complications are common following abdominoperineal resection (APR). Although primary closure is commonly undertaken, myocutaneous flap closure such as vertical rectus abdominis myocutaneous flap (VRAM) is thought to improve wound healing process and outcome. A comprehensive meta-analysis was performed to compare outcomes of primary closure versus VRAM flap closure of perineal wound following APR. ⋯ We highlight the advantage of VRAM flap closure over primary closure for perineal wounds following APR. However, tailoring operative strategy based on patient and disease factors remains important in optimising outcomes.
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Review Comparative Study
A comparison of available guidelines for the detection of cauda equina syndrome and assessing the need for further clinical guidance in Ireland.
The cauda equina syndrome (CES) is a rare but critical disorder, which can result in devastating motor weakness and sensory deficit, alongside often irreversible bladder, bowel and sexual dysfunction. In addition to the clinical burden of disease, this syndrome results in a disproportionately high medicolegal strain due to missed or delayed diagnoses. Despite being an emergency diagnosis, often necessitating urgent surgical decompression to treat, we believe there is a lack of clarity for clinicians in the current literature, with no published Irish guideline concerning screening or detection. ⋯ No Irish guidelines or advice were available on CES screening/treatment at the time of review. This review demonstrated the lack of consensus and guidance for clinicians in Ireland on how to effectively screen for CES, judge who requires further imaging and investigations and how to rule out the condition. A national consensus on thorough screening and prompt investigation for CES is necessary, and the formulation of new CES guidelines would be a welcome addition to what is available to clinicians currently.
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A combination of improvements in patient survival, increasing treatment duration, and the development of more expensive agents has led to a doubling of per-capita spending on cancer medicines in Ireland (2008-2018). Despite this, access to new drugs is poor in comparison to other EU countries. We examine methods to optimise oncology drug spending to facilitate access to newer anticancer agents. ⋯ A variety of techniques are being employed by oncologists to optimise costs and increase access to innovation for patients. Use of biosimilars, drug wastage, and prescribing at end of life should be audited as key performance indicators, which may lead to reflective practice on treatment planning. Such measures could further optimise oncology drug expenditure nationally facilitating approval of new agents.