Publications by authors named "S Barollo"

72 Publications

Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.

J Endocrinol Invest 2021 May 18. Epub 2021 May 18.

FIRS Laboratories RSR Ltd, Cardiff, UK.

Background: Autoimmune Polyglandular Syndrome type 1 (APS-1) is a rare recessive inherited disease, caused by AutoImmune Regulator (AIRE) gene mutations and characterized by three major manifestations: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CH) and Addison's disease (AD).

Methods: Autoimmune conditions and associated autoantibodies (Abs) were analyzed in 158 Italian patients (103 females and 55 males; F/M 1.9/1) at the onset and during a follow-up of 23.7 ± 15.1 years. AIRE mutations were determined.

Results: The prevalence of APS-1 was 2.6 cases/million (range 0.5-17 in different regions). At the onset 93% of patients presented with one or more components of the classical triad and 7% with other components. At the end of follow-up, 86.1% had CH, 77.2% AD, 74.7% CMC, 49.5% premature menopause, 29.7% autoimmune intestinal dysfunction, 27.8% autoimmune thyroid diseases, 25.9% autoimmune gastritis/pernicious anemia, 25.3% ectodermal dystrophy, 24% alopecia, 21.5% autoimmune hepatitis, 17% vitiligo, 13.3% cholelithiasis, 5.7% connective diseases, 4.4% asplenia, 2.5% celiac disease and 13.9% cancer. Overall, 991 diseases (6.3 diseases/patient) were found. Interferon-ω Abs (IFNωAbs) were positive in 91.1% of patients. Overall mortality was 14.6%. The AIRE mutation R139X was found in 21.3% of tested alleles, R257X in 11.8%, W78R in 11.4%, C322fsX372 in 8.8%, T16M in 6.2%, R203X in 4%, and A21V in 2.9%. Less frequent mutations were present in 12.9%, very rare in 9.6% while no mutations in 11% of the cases.

Conclusions: In Italy, APS-1 is a rare disorder presenting with the three major manifestations and associated with different AIRE gene mutations. IFNωAbs are markers of APS-1 and other organ-specific autoantibodies are markers of clinical, subclinical or potential autoimmune conditions.
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http://dx.doi.org/10.1007/s40618-021-01585-6DOI Listing
May 2021

Serum miR-375 for Diagnostic and Prognostic Purposes in Medullary Thyroid Carcinoma.

Front Endocrinol (Lausanne) 2021 29;12:647369. Epub 2021 Mar 29.

Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy.

Purpose: Having previously demonstrated that tissue miR-375 expression in medullary thyroid carcinoma (MTC) tissues is linked to prognosis, the aim of this study was to assess the diagnostic and prognostic value of circulating miR-375 levels in MTC patients.

Methods: A series of 68 patients with MTC was retrospectively retrieved and assessed in terms of their clinicopathological characteristics. MiR-375 levels were measured in all patients' presurgical blood samples. Both serum and tissue levels were tested prior to surgery in a subgroup of 57 patients. Serum miR-375 levels were also measured in serum from 49 patients with non-C-cell thyroid nodular diseases (non-CTN), 14 patients with pheochromocytoma, and 19 healthy controls.

Results: Circulating miR-375 levels were 101 times higher in the serum of patients with MTC than in all other patients and controls, with no overlap (P < 0.01). No correlation emerged between serum and tissue miR-375 levels. Serum miR-375 levels were higher in MTC patients with N0 than in those with N1 disease (P = 0.01), and also in patients who were biochemically cured than in those who were not (P = 0.02). In the whole series of patients and controls, calcitonin (CT) and serum miR-375 levels were correlated at diagnosis (R = 0.40, P < 0.01), but in a U-shaped manner: a positive correlation was found with low CT levels, then the correlation turns negative as CT rises (in MTC patients). A negative correlation was indeed found in MTC patients between serum miR-375 and CT (R = -0.10, P = 0.01). On ROC curve analysis, a cut-off of 2.1 for serum miR-375 proved capable of distinguishing between MTC patients and the other patients and controls with a 92.6% sensitivity and a 97.6% specificity (AUC: 0.978, P < 0.01).

Conclusions: Serum miR-375 levels can serve as a marker in the diagnosis of MTC, with a remarkable specificity. Serum miR-375 also proved a novel marker of prognosis in this disease. Further experiments to corroborate our results are currently underway.
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http://dx.doi.org/10.3389/fendo.2021.647369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8039521PMC
March 2021

The role of the size in thyroid cancer risk stratification.

Sci Rep 2021 Mar 31;11(1):7303. Epub 2021 Mar 31.

Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy.

Only a minority of cases of differentiated thyroid carcinoma (DTC) have a poor clinical outcome. Clinical outcomes and molecular aspects were assessed in: 144 DTC ≤ 40 mm without distant metastases (group 1); 50 DTC > 40 mm without distant metastases (group 2); and 46 DTC with distant metastases (group 3). Group 3 had a worse outcome than the other two groups: during the follow-up, patients more frequently had persistent disease, died, or underwent further treatment. The outcomes did not differ between groups 1 and 2. Group 3 had a higher prevalence of TERT promoter mutations than group 2 (32.6% vs 14%). Group 1 had a higher frequency of BRAF mutations than groups 2 or 3 (61.1% vs 16.0% and 26.1%, respectively), while RAS mutations were more common in group 2 than in groups 1 and 3 (16.0% vs 2.1% and 6.5%, respectively). Groups 1 and 2 shared the same outcome, but were genetically distinct. Only lymph node involvement, distant metastases, older age and (among the molecular markers) TERT promoter mutations were independent predictors of a worse outcome. Metastatic DTC had the worst outcome, while the outcome was identical for large and small non-metastatic DTC, although they showed different molecular patterns. TERT promoter mutations emerged as an independent factor pointing to a poor prognosis.
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http://dx.doi.org/10.1038/s41598-021-86611-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8012699PMC
March 2021

Prognostic significance of the sum of the diameters of single foci in multifocal papillary thyroid cancer: the concept of new-old tumor burden.

Ther Adv Endocrinol Metab 2020 12;11:2042018820964326. Epub 2020 Oct 12.

Department of Medicine (DIMED), Endocrinology Unit, Padua University, Padua, Italy.

Aim: The prognostic value of multifocality (Mu) in papillary thyroid cancer (PTC) remains controversial. The present study aimed to investigate this issue and test the possible prognostic significance of the sum of the diameters of single foci (SDSF), the total number of foci (TNF), and primary tumor size (PTS) in multifocal PTC.

Methods: We retrospectively analyzed a single-center consecutive series of 370 PTCs. For multifocal cases we analyzed bilaterality occurrence, SDSF, TNF, and PTS.

Results: Mu was observed in 41.1% PTCs, and bilaterality in 30%. Mu was associated with an advanced T-category. In bilateral multifocal PTC, the PTS was larger, and microPTC was less frequent, while T-categories were higher. Mu and bilaterality had no impact on prognosis. At univariate analysis, PTS, SDSF, vascular invasion, lymph node metastases, distant metastases, T-categories, Initial Risk Stratification System score, second treatment and TERT promoter mutation correlated with persistence/recurrence or death in the multifocal PTC group. On multivariate Cox proportional hazards regression analyses, SDSF again independently predicted persistence/recurrence or death in multifocal PTCs. We found that a cut-off for SDSF less than 40 mm was able to identify multifocal PTC patients with a very low risk of persistence/recurrence (negative predictive value 96.9%). Disease-free survival was significantly shorter in patients with multifocal PTCs and SDSF ⩾40 mm.

Conclusions: Mu and bilaterality were not prognostically significant. SDSF emerged as a new independent prognostic factor for persistence/recurrence of multifocal PTC. SDSF might better represent the tumor burden in multifocal PTC, with SDSF < 40 mm identifying multifocal PTC patients with a good prognosis.
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http://dx.doi.org/10.1177/2042018820964326DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7557686PMC
October 2020

Changing Dietary Habits in Veneto Region over Two Decades: Still a Long Road to Go to Reach an Iodine-Sufficient Status.

Nutrients 2020 Aug 11;12(8). Epub 2020 Aug 11.

Department of Medicine (DIMED), Endocrinology Unit, University of Padova, 35121 Padova, Italy.

Fifteen years after a nationwide voluntary iodine prophylaxis program was introduced, the aims of the present study were: () to obtain an up-to-date assessment of dietary iodine intake in the Veneto region, Italy; and () to assess dietary and socioeconomic factors that might influence iodine status. Urinary iodine concentration (UIC) was obtained in 747 school students (median age 13 years; range: 11-16 years). The median UIC was 111 μg/L, with 56% of samples ≥ 100 μg/L, but 26% were < 50 μg/L, more frequently females. Iodized salt was used by 82% of the students. The median UIC was higher among users of iodized salt than among non-users, 117.0 ug/L versus 90 ug/L ( = 0.01). The median UIC was higher in regular consumers of cow's milk than in occasional consumers, 132.0 μg/L versus 96.0 μg/L ( < 0.01). A regular intake of milk and/or the use of iodized salt sufficed to reach an adequate median UIC, although satisfying only with the combined use. A trend towards higher UIC values emerged in regular consumers of cheese and yogurt. Iodine status has improved (median UIC 111.0 μg/L), but it is still not adequate as 26% had a UIC < 50 μg/L in the resident population of the Veneto region. A more widespread use of iodized salt but also milk and milk product consumption may have been one of the key factors in achieving this partial improvement.
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http://dx.doi.org/10.3390/nu12082399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7468863PMC
August 2020
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