Irish journal of medical science
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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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One of the satisfactions of publishing a paper in an academic journal is seeing the process reach closure after potentially weeks or months of peer review and editorial processing. Typically, in the latter step, a proof is developed and the paper stays in press until the paper is assigned to a journal issue, in the case of a print journal. In some cases, it is possible to find papers that are in press for years. ⋯ Editors and publishers should endeavor to publish all "in press" papers within a reasonable amount of time. If not, they should rethink their publication process so as not to leave the intellect of some academics in a perpetual state of publishing "limbo".
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Long noncoding RNA HULC (lnc-HULC) and its target microRNA-128-3p (miR-128-3p) regulate endothelial cell function, blood lipid level, and inflammatory cytokine production, which are involved in the pathogenesis of coronary heart disease (CHD). Based on the above information, this study intended to further investigate the correlation between lnc-HULC and miR-128-3p, as well as their clinical values for CHD management. ⋯ Lnc-HULC and its target miR-128-3p relate to lipid level, stenosis degree, inflammatory cytokines, and cell adhesion molecules in CHD patients.