Publications by authors named "D McGuigan"

Article Synopsis
  • Cellular senescence refers to the permanent halt of cell growth caused by factors like genetic mutations or damage, and it's linked to aging and diseases like diabetes and heart issues.
  • The study aimed to identify specific senescence biomarkers in patients with acute kidney injury (AKI) and chronic kidney disease (CKD) using OLINK proteomics.
  • The proteins CKAP4 and PTX3 were found to be significantly elevated in AKI and CKD patients, suggesting they could serve as important indicators for kidney disease progression.
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Introduction: Cardiovascular disease (CVD) is the leading cause of mortality in people with Type 2 diabetes mellitus (T2DM). Statins reduce low-density lipoproteins and positively affect CVD outcomes. Statin type and dose have differential effects on glycaemia and risk of incident T2DM; however, the impact of gender, and of individual drugs within the statin class, remains unclear.

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Purpose: Blue cone monochromacy (BCM), a congenital X-linked retinal disease caused by mutations in the gene cluster, is under consideration for intravitreal gene therapy. Difficulties with near vision tasks experienced by these patients prompted this study of reading performance as a potential outcome measure for a future clinical trial.

Methods: Clinically and molecularly diagnosed patients with BCM ( = 17; ages 15-63 years) and subjects with normal vision ( = 22; ages 18-72 years) were examined with the MNREAD acuity chart for both uniocular and binocular conditions.

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Mutations in the (eyes shut homolog) gene are a common cause of autosomal recessive (ar) retinitis pigmentosa (RP). Without a mammalian model of human disease, there is limited understanding of details of disease expression and rates of progression of the retinal degeneration. We studied clinically and with chromatic static perimetry, spectral-domain optical coherence tomography (OCT), and autofluoresence imaging, a cohort of 15 patients (ages 12-51 at first visit), some of whom had longitudinal data of function and structure.

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Purpose: Pupillary light reflex (PLR) is driven by outer retinal photoreceptors and by melanopsin-expressing intrinsically photosensitive retinal ganglion cells of the inner retina. To isolate the melanopic component, we studied patients with severe vision loss due to Leber congenital amaurosis (LCA) caused by gene mutations acting on the outer retina.

Methods: Direct PLR was recorded in LCA patients (n = 21) with known molecular causation and severe vision loss.

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