Irish journal of medical science
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Cork University Hospital acts as the tertiary referral centre for the HSE southern area, with a catchment population of 1.2 million [1]. The neurology registrars receive telephone consultations from hospitals and primary care practices in the region. While there have been a number of studies examining inpatient neurology consultations in Irish hospitals [2-6], there is a paucity of data examining the support provided by tertiary referral centres to other acute hospitals and primary care centres in their region. ⋯ This is a necessary service in a system that is not adequately resourced to provide specialist led care in all hospitals. A greater emphasis on complete and accurate referrals, along with robust communication and documentation, could reduce the inherent risk associated with such consultations.
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Acute gastrointestinal bleeding (GI bleeding) can range from mild symptoms to life-threatening conditions that require emergency intervention. Therefore, it is important to first identify the high-risk and low-risk patients in the emergency department (ED). ⋯ This study validated that lactate clearance at three-hourly intervals is useful for early prediction of mortality and prognosis in patients with GI bleeding. It is important to perform not only an initial lactate measurement, but also a follow-up lactate measurement after initial resuscitation to check the lactate clearance.
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Familial Mediterranean fever (FMF) is the most common autoinflammatory disease characterized by short, repeated, and self-limiting attacks of fever and serositis. Subclinical inflammation can persist in the periods with no symptoms and result in amyloidosis even with colchicine treatment. Neopterin and calprotectin have been considered essential players in inflammation and immune response. ⋯ Calprotectin, neopterin, and RDW can be valuable marker candidates to be used in the follow-up of subclinical inflammation in FMF patients.
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The progressive symptoms of Duchenne muscular dystrophy (DMD) negatively affect upper extremity skills, and this may have an effect that reduces the independence of daily life. ⋯ In our study, there was a significant relationship between the functional level of patients with DMD and upper extremity function, pain, and muscle stiffness.
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Predictive testing for BRCA1 or BRCA2 allows at-risk individuals to engage with appropriate screening and treatment services if a pathogenic mutation is identified. Previous studies have shown uptake of predictive testing to most commonly range between 20% and 40% (Table 2). This represents a missed cancer prevention opportunity. Possible explanations for this low uptake include lack of disclosure of at-risk status to relatives, lack of awareness of cancer genetics services, or patient preference. The goal of the current study was to investigate the uptake of BRCA1 or BRCA2 predictive testing in an Irish population. ⋯ Uptake of BRCA1 OR BRCA2 mutation testing in Ireland is suboptimal, particularly amongst Irish males and distant relatives. Further research is needed to identify strategies which may improve uptake within current legal and ethical frameworks.