Publications by authors named "V Camozzi"

57 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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May 2021

Vitamin D in the Covid-19 era: a review with recommendations from a G.I.O.S.E.G. expert panel.

Endocrine 2021 06 17;72(3):597-603. Epub 2021 May 17.

Institute of Endocrine and Metabolic Sciences (IEMS), San Raffaele Vita-Salute University, IRCCS San Raffaele Hospital, Via Olgettina 20, Milan, Italy.

Vitamin D (VITD) is a key hormone for bone health and has relevant extra-skeletal effects that might play a role in the prevention and treatment of COronaVIrus Disease 19 (COVID-19). Literature regarding this scenario is voluminous but controversial. Glucocorticoid Induced Osteoporosis Skeletal Endocrinology Group (G.I.O.S.E.G) has been present in the scientific debate about the use of VITD and has regularly interfaced national regulatory agencies to ensure appropriateness of its employment. Given the current pandemic and the questions on COVID-19 and VITD, G.I.O.S.E.G. appointed an expert panel to advise how to consider this issue best. The results of these deliberations are reported in the current recommendation paper.
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June 2021

Tele-medicine versus face-to-face consultation in Endocrine Outpatients Clinic during COVID-19 outbreak: a single-center experience during the lockdown period.

J Endocrinol Invest 2021 Aug 23;44(8):1689-1698. Epub 2020 Dec 23.

Endocrinology Unit, Department of Medicine DIMED, University-Hospital of Padova, European Reference Network On Rare Endocrine Conditions (endoERN) Center of Padova, Via Ospedale Civile, 105, 35128, Padova, Italy.

Context: The COVID-19 outbreak in Italy is the major concern of Public Health in 2020: measures of containment were progressively expanded, limiting Outpatients' visit.

Objective: We have developed and applied an emergency plan, tailored for Outpatients with endocrine diseases.

Design: Cross-sectional study from March to May 2020.

Setting: Referral University-Hospital center.

Patients: 1262 patients in 8 weeks.

Interventions: The emergency plan is based upon the endocrine triage, the stay-safe procedures and the tele-Endo. During endocrine triage every patient was contacted by phone to assess health status and define if the visit will be performed face-to-face (F2F) or by tele-Medicine (tele-Endo). In case of F2F, targeted stay-safe procedures have been adopted. Tele-Endo, performed by phone and email, is dedicated to COVID-19-infected patients, to elderly or frail people, or to those with a stable disease.

Main Outcome Measure: To assess efficacy of the emergency plan to continue the follow-up of Outpatients.

Results: The number of visits cancelled after endocrine triage (9%) is lower than that cancelled independently by the patients (37%, p < 0.001); the latter reduced from 47 to 19% during the weeks of lockdown (p = 0.032). 86% of patients contacted by endocrine-triage received a clinical response (F2F and tele-Endo visits). F2F visit was offered especially to young patients; tele-Endo was applied to 63% of geriatric patients (p < 0.001), visits' outcome was similar between young and aged patients.

Conclusions: The emergency plan respects the WHO recommendations to limit viral spread and is useful to continue follow-up for outpatients with endocrine diseases.
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August 2021

F-choline PET/CT and PET/MRI in primary and recurrent hyperparathyroidism: a systematic review of the literature.

Ann Nucl Med 2020 Sep 7;34(9):601-619. Epub 2020 Aug 7.

Nuclear Medicine Unit, Department of Medicine (DIMED), University of Padova, Via Giustiniani 2, 35128, Padua, Italy.

The aims of the present systematic review were to: (1) assess the role of F-fluorocholine (FCH) positron emission tomography (PET) with computed tomography (CT) and PET with magnetic resonance imaging (MRI) in patients with biochemically known hyperparathyroidism; (2) compare the diagnostic performance of FCH PET/CT or PET/MRI with conventional morphological and functional imaging. A literature search until December 2019 was performed in the PubMed, Scopus and Web of Science databases, using the terms "choline" AND "PET" AND "hyperparathyroidism". The search was conducted with and without the addition of filters (e.g., language: English only; type of article: original article; subjects: humans only) and selecting only articles published in the last 5 years. Twenty-three articles and 1112 patients were considered. Different FCH PET/CT acquisition protocols were adopted across the studies, using dynamic, early or delayed scans. FCH PET/CT proved more accurate than ultrasonography (US) or 99mTc-sestamibi single-photon emission tomography (SPET). PET/MRI also seemed to be more accurate than MRI alone in detecting benign parathyroid lesions. FCH PET/CT is more accurate than conventional morphological and functional imaging modalities (US or SPET) for the detection of benign parathyroid lesions. It could, therefore, be a reliable tool in both primary and recurrent hyperparathyroidism.
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September 2020

PTH: Redefining Reference Ranges in a Healthy Population-The Role of Interfering Factors and the Type of Laboratory Assay.

Int J Endocrinol 2020 21;2020:1053719. Epub 2020 Feb 21.

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

. Parathyroid hormone (PTH) is a linear peptide constituted by 84 amino acids and active in its 1-84 form, but a wide range of PTH forms produced by its post-transcriptional modifications are present in blood. Many assays with different specificities are commercially available. The aim of our study was to compare a 2 and 3 generation in healthy population in order to better define the reference range in the healthy population residing in our region. . 108 subjects (53 females and 55 males) referring to the transfusion donor were enrolled in the study centre in April 2016 and underwent PTH levels measurements with a 3 generation kit (chemiluminescent immunoassay DiaSorin Liaison) and with a 2 generation kit (immunoradiometric assay Total Intact PTH Assay (Coated Tube), Scantibodies). Also calcium, phosphate, creatinine, and 25OHD3 were measured. A questionnaire on lifestyle and dietary habits was obtained.

Results: The median PTH values obtained with the 2 generation assay and the whole 3 generation assay were 20.26 pg/ml and 23.11 pg/ml, respectively. Bland-Altman method showed substantial concordance between the two PTH assays, although with an overestimation of the 3 generation method over the 2 generation method. There was no correlation between 3 generation PTH and 25OHD3 and creatinine. Calcium was negatively correlated with PTH only when measured with 3 generation kit.

Conclusions: On the basis of our data, obtained from healthy subjects, we can conclude that the reference range used by our laboratory was too narrow and was necessary to reestablish normal ranges according to our population. This is useful to avoid hyperparathyroidism misdiagnosis.
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February 2020