Irish journal of medical science
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Mutations/variants in mitochondrial genomes are found to be associated with type 2 diabetes mellitus (T2DM), but the pathophysiology of this disease remains largely unknown. ⋯ The co-occurrence of ND5 T12338C and tRNAAla T5587C variants may impair the mitochondrial function, which are associated with the development of T2DM in this family.
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Mutations in the alpha-sarcoglycan gene cause limb-girdle muscular dystrophy 2D, an autosomal recessive muscle wasting disorder primarily affecting the muscles of the shoulder and pelvic girdles. To date, no previous study has collated all known mutations in alpha-sarcoglycan and mapped these to the associated phenotypes. ⋯ This study demonstrates the vast variation in disease severity seen between patients possessing the same mutation, highlighting the difficulty identifying genotype-phenotype correlations in this condition. Novel findings including the involvement of exon three in all compound heterozygous patients who suffered from cardiomyopathy, and the severity of mutations involving exons four and five may help to guide investigations and therapeutic decisions in an era of personalised medicine.
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Review Meta Analysis
Systematic review and meta-analysis of randomized controlled trials on safety and effectiveness of oral anticoagulants for atrial fibrillation in older people.
A meta-analysis of prospective, randomized controlled trials on novel oral anticoagulants (NOACs) versus warfarin, as most commonly used vitamin K antagonists (VKAs), was done to evaluate their effect on stroke risk and bleeding complications in nonvalvular atrial fibrillation (AF) patients. The study aims to evaluate efficacy and safety of NOACs versus warfarin between patients < 75 years and ≥ 75 years old. Prospective, randomized controlled trials (RCTs) comparing NOACs with warfarin with at least 1-year follow-up in nonvalvular AF patients were included. Search was done at MEDLINE, without time and language restriction. "Cochrane risk of bias 2.0 tool" was used to assess risk of bias. In meta-analysis, random effect model was used. ⋯ In subgroup analysis, it was consistent for both younger and older patients. Older patients have higher stroke risk that leads to more benefit with anticoagulation than younger patients. NOACs have better efficacy profile than warfarin as they decrease stroke more than warfarin, without increasing bleeding risk. Need for real-world data in old population is necessary.
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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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Activity-based funding (ABF) is a reimbursement model for public hospitals in Ireland. Little data exist regarding cost estimates for acute surgical admissions in Ireland. This study presents a novel method of direct cost estimation for testicular torsion (TT) care in Ireland. ⋯ Just over two-thirds of cases (70%, n = 1230) were reimbursed with public funding. This novel cost estimation model may serve as a template for future direct cost estimates for surgical interventions in Ireland. This will improve the accuracy of future economic evaluation for healthcare interventions in Ireland.