Irish journal of medical science
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The pathogenesis of Hirschprung's disease (HSCR) remains largely unknown. The lncRNA ZNFX1 antisense RNA 1 (ZFAS1) has been found to have vital regulatory roles in a number of diseases. However, the association between ZFAS1 and HSCR has not been reported. ⋯ Our findings revealed that ZFAS1 may participate in the pathogenesis of HSCR through regulating neuron functions. Bioinformatics analysis highlighted an important perspective for the following mechanical researches.
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Review Case Reports
Use your head: overcoming epicardial complications during a single-catheter chronic total occlusion-a case-based review.
The success of attempts at opening chronic total occlusions (CTO) has dramatically increased in recent times due to the development of new techniques such as the use of the retrograde approach through epicardial collaterals. However, this approach admittedly brings with it an increased risk, and this must be balanced against the potential benefits. We present the case of a 61-year-old gentleman with Canadian Cardiovascular Society (CCS) Class III angina with a background history of hypertension and dyslipidaemia, who was an ex-smoker, and whose diagnostic coronary angiogram revealed CTOs of both the right and left circumflex coronary arteries. ⋯ Unfortunately, upon removal of the Corsair, a rupture of the epicardial collateral was noted with profuse bleeding into the pericardial space. This was treated successfully with a BeGraft-covered stent to obtain proximal control, and a Cooke Tornado neuro-interventional coil to obtain distal control, delivered antegrade through the now recanalized RCA. This case-based review then highlights several unique learning points, in particular to understand, in general terms, the approach to CTO; to understand the potential complications associated with a retrograde epicardial collateral approach; to understand the stepwise approach to dealing with perforation; and, finally, to understand how an occlusion coil works.
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Prolonged waiting lists increase costs as medical problems may become more expensive to fix. There are also hidden financial costs. Irish Clinical Genetic services have long out-patient waiting times. We noticed duplicate referrals (patients on the waiting list) being re-referred because the patient still had not been seen. These re-referrals waste consultant and administrative time, pose a clinical risk by distracting clinician time, and are costly to our health service. ⋯ National Treatment Purchase Fund data suggests that 271,560 patients are waiting > 12 months for both in- and out-patient public appointments on 1 January 2021. Assuming duplicate referrals are occurring across the Irish health system with equal frequency after 12 months of waiting (8% of total appointments), then we estimate a conservative cost of 757,392 € per quarter to the health service and an annual cost to the HSE of 3,029,568 €.
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The disease-modifying therapies (DMT), dimethyl fumarate (DMF) and fingolimod (FTY) improve the outcomes in multiple sclerosis (MS) by reducing relapses and numbers and volume of lesions. They mediate their effects through reduction of immune reactivation, which may potentially lead to lymphopaenia and increased risk of infections. Previous studies have examined the effects of these therapies on lymphocyte subsets; however, the in vivo effects on circulating lymphocyte proliferation require further elucidation. The aim of this study was to determine the effects of DMF and FTY on T-cell proliferation in patients with MS. ⋯ This pilot study suggests that the T-lymphocytes of patients on FTY have an abnormal proliferation response as well as being reduced in the circulation.