Irish journal of medical science
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Breast cancer is genetically heterogeneous, and parellel multi-gene sequencing is the most cost- and time-efficient manner to investigate breast cancer predisposition. Numerous multi-gene panels (MGPs) are commercially available, but many include genes with weak/unproven associaton with breast cancer, or with predisposition to cancer of other types. This study investigates the utility of a custom-designed multi-gene panel in an Irish cohort with breast cancer. ⋯ Using multi-gene panels enables rapid, cost-effective identification of individuals with high-risk cancer predisposition syndromes. However, this approach also leads to an increased amount of uncertain results. Clinical management of individuals with particular genetic variants in the absence of a matching phenotype/family history is challenging. Further population and functional evidence is required to fully elucidate the clinical relevance of variants in genes of uncertain significance.
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Gallbladder stone with symptom is an indication of cholecystectomy according to the current guideline. However, about 80% of gallstone patients are asymptomatic. The identification of gallbladder stone patients likely to develop symptomatic complications would be of benefit in clinical practice. ⋯ Diabetes, sludge, and lower blood HDL level are risk factors for symptomatic gallstone diseases.
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Atrial fibrillation (AF), the most common sustained arrhythmia in older adults, causes significant complications such as stroke, dementia, and decreased quality of life. Frailty is a geriatric syndrome that is associated with increased risk of poor clinical outcomes including falls, disability, and mortality. We aimed to investigate the relationship between AF and frailty and functionality in older adults. ⋯ EHRA AF symptom severity score is positively correlated with frailty. AF is associated with worse metabolic profile and clinical features on CGA that AF might be a frailty marker. Frailty should be investigated in AF patients.
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Cardiac resynchronization therapy (CRT) has been shown to reduce mortality and morbidity in symptomatic patients with reduced left ventricular systolic function < 35%, a left bundle branch block (LBBB) and a widened QRS complex. This paper compares Irish national CRT practices with the European data that was gathered in the same multi-centre CRT Survey II. ⋯ Within Ireland, the majority of CRT implantation are adherent with ESC guidelines. It has also highlighted problems that are noted in other ESC member countries such as the underutilization of device therapy in women, lack of referrals from peripheral centres and further need for optimization of medical therapy before device implantation.
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A significant proportion of patients presenting to the Emergency Department with gastrointestinal symptoms that result in cross-sectional imaging receive a radiological diagnosis of colitis. We aimed to review the characteristics, outcomes, and final diagnoses of new emergency department presentations with colitis diagnosed on cross-sectional imaging. ⋯ Patients presenting to the Emergency Department with a colitis, requiring an abdominal CT are a heterogenous group with a proportion having concomitant intra-abdominal pathology resulting in critical illness. Hence their is a significant morbidity and mortality observed in this cohort which should not be extrapolated to a general population of patients presenting with colitis. In this cohort of patients, anaemia, hypoalbuminaemia, and elevated lactate in patients presenting to the ED with acute colitis are significantly associated with adverse outcomes. Early recognition of these prognostic factors may identify the cohort of patients who are best managed in a high-dependency setting.