Irish journal of medical science
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Among one of the common hereditary causes of chronic kidney disease is autosomal-dominant polycystic kidney disease (ADPKD), and its incidence rate is reported as one between 500 and 1.000 individuals. The most common complications of ADPKD are hypertension (HT) and end-stage renal disease (ESRD). HT occurring in the early stage of ADPKD leads to deteriorations in renal function. ⋯ We consider that serum IM levels should be assessed in oxidative stress (OS)-related conditions, such as ADPKD, and RAAS blockers may be effective in reducing serum IMA levels in ADPKD and HT patients.
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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.