Publications by authors named "Simone Comi"

Purpose: The insulin-like growth factor-1 receptor (IGF-1R) plays a role in the pathogenesis of Graves' orbitopathy (GO). A possible protective role of autoantibodies against IGF-1R (IGF-1R-Abs) on GO has been suggested.

Methods: We conducted a cross-sectional study to investigate IGF-1R-Abs in 147 consecutive Graves' disease (GD) patients, with (n = 92) or without (n = 55) GO (primary outcome), their relationship with GO features and their effect on cell proliferation in primary cultures of orbital fibroblasts.

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Objective: Compared with methylprednisolone, a greater response of Graves' orbitopathy (GO) at 24 weeks was reported in patients treated with sirolimus (rapamycin) for 12 weeks. We investigated whether serum levels of sirolimus at week-12 predict the outcome of GO at week-24.

Methods: Retrospective investigation in 30 patients [males: 4; females: 26; age 61.

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Treatment for Graves' hyperthyroidism (GH) in patients with Graves' orbitopathy (GO) remains a topic of debate. This study aimed to investigate the outcome of GO following glucocorticoids, depending on the chosen thyroid treatment. This retrospective cohort study included 49 consecutive patients with GH and moderate-to-severe, active GO, as defined by the European Group on Graves' Orbitopathy guidelines.

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Introduction: Graves' Orbitopathy (GO) is an autoimmune disorder characterized by inflammation of orbital tissues, leading to various ocular manifestations, including ocular surface disease. This cross-sectional study aimed to assess the presence of ocular surface disease using the Ocular Surface Disease Index (OSDI) in patients with Graves' disease (GD) and moderate-to-severe active GO compared to those with GD and mild non-active GO. Additionally, we aimed to investigate the correlation between ocular surface disease and the eye features of GO.

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Article Synopsis
  • The study explores the genetic and epigenetic factors involved in the development of Graves' orbitopathy (GO), highlighting that both sex and racial differences indicate a genetic influence on the disease.* -
  • Research shows that while no specific genes have been linked to an increased risk of GO, variations in gene expression and DNA methylation patterns observed in orbital fibroblasts suggest an epigenetic component in its pathogenesis.* -
  • The findings suggest that initial autoimmune triggers may lead to long-lasting changes in gene expression, contributing to the persistence and development of GO, although further examination of histone modifications is needed.*
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Article Synopsis
  • Sirolimus was found to help people with Graves' orbitopathy (a condition that affects the eyes) more than another medicine called methylprednisolone at the 24-week mark.
  • In the study, 40 patients were treated, and researchers looked at how they felt and their eye symptoms over 48 weeks.
  • While sirolimus showed better results at 24 weeks, both medicines had similar outcomes at 48 weeks, suggesting that longer treatment might be needed for better results.
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Background: In this study, we used targeted next-generation sequencing (NGS) to investigate the genetic basis of congenital hypothyroidism (CH) in a 19-year-old Tunisian man who presented with severe hypothyroidism and goiter.

Case Presentation: The propositus reported the appearance of goiter when he was 18. Importantly, he did not show signs of mental retardation, and his growth was proportionate.

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Purpose: Graves orbitopathy (GO) is the most common extrathyroidal manifestation of Graves disease. Although its pathogenesis is not fully elucidated, GO is commonly considered an autoimmune disease due to loss of self-tolerance against autoantigens shared by thyroid epithelial cells and orbital fibroblasts. High-dose intravenous glucocorticoids (ivGCs) are the most used treatment for moderate-to-severe, active GO, but the addition of other immunomodulating treatments can improve the efficacy of ivGCs.

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Context: A role of DNA methylation in Graves orbitopathy (GO) has been proposed.

Objective: This work aimed to investigate DNA methylation and gene expression in orbital fibroblasts from control and GO patients, under basal conditions or following challenge with an anti- thyrotropin (TSH) receptor antibody (M22) or cytokines involved in GO; to investigate the relationship between DNA methylation and cell function (proliferation); and to perform a methylome analysis.

Methods: Orbital fibroblasts from 6 GO and 6 control patients from a referral center underwent methylome analysis of the whole genome.

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Lipocalin-2 (LCN2) is a secreted glycoprotein involved in several chronic inflammatory processes. Metabolic syndrome (MetS) and adult growth hormone deficiency (GHD) are known as chronic inflammatory conditions. The primary objective of this observational cross-sectional study was to compare LCN2 plasmatic levels in these clinical settings, whereas the secondary objective was to investigate any possible correlation between LCN2 and BMI and/or indexes of insulin sensitivity/resistance.

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