Publications by authors named "N A Greggio"

51 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

Integration of physical, geochemical and biological analyses as a strategy for coastal lagoon biomonitoring.

Mar Pollut Bull 2021 Mar 28;164:112005. Epub 2021 Jan 28.

University of Bologna, Inter-Departmental Research Centre for Environmental Science (CIRSA), Via S. Alberto 163, 48123 Ravenna, Italy; University of Bologna, Department of Biological, Geological, and Environmental Sciences, Piazza S. Donato 1, 40100 Bologna, Italy.

Coastal lagoons are complex environments threatened by natural and anthropogenic stressors. Here, we tested the effectiveness of combining physical, geochemical and chemical measurements with biomarker data obtained in field-exposed marine mussels (Mytilus galloprovincialis) as a biomonitoring strategy for a highly pressured lagoon (Pialassa Baiona, Ravenna, Italy). Data showed a spatial trend of sediment contamination by Hg, Pt, Au, Ag, Mo, Re, Cd, Pd and Zn. Local conditions of high water temperature/low conductivity were detected among selected sites. After a 30-day in situ exposure, Ag and Hg were the most bioaccumulated elements (10 and 5 folds, respectively) in mussels followed by Sb, Al, Ti and Fe. Decreased survival, lysosomal dysfunctions, increased metallothionein content and peroxisome proliferation were observed in mussels in relation to metal spatial distribution and physico-chemical fluctuations. Overall, this study provides a further confirmation of the role of biomonitoring to reliably assess the environmental quality of highly pressured lagoons.
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http://dx.doi.org/10.1016/j.marpolbul.2021.112005DOI Listing
March 2021

Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.

J Clin Endocrinol Metab 2021 Mar;106(3):762-773

Pediatric Endocrinology Unit, Department of Translational Medical Sciences, University of Naples Federico II, Endo-ERN Center for Rare Endocrine Conditions, Naples, Italy.

Context: Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that is poorly characterized in children.

Objective: To describe causes, presentation, auxological outcome, frequency of adrenal crisis and mortality of a large cohort of children with PAI.

Patients And Methods: Data from 803 patients from 8 centers of Pediatric Endocrinology were retrospectively collected.

Results: The following etiologies were reported: 85% (n = 682) congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD); 3.1% (n = 25) X-linked adrenoleukodystrophy; 3.1% (n = 25) autoimmune polyglandular syndrome type 1; 2.5% (n = 20) autoimmune adrenal insufficiency; 2% (n = 16) adrenal hypoplasia congenital; 1.2% (n = 10) non-21-OHD CAH; 1% (n = 8) rare syndromes; 0.6% (n = 5) familial glucocorticoid deficiency; 0.4% (n = 3) acquired adrenal insufficiency; 9 patients (1%) did not receive diagnosis. Since 21-OHD CAH has been extensively characterized, it was not further reviewed. In 121 patients with a diagnosis other than 21-OHD CAH, the most frequent symptoms at diagnosis were fatigue (67%), hyperpigmentation (50.4%), dehydration (33%), and hypotension (31%). Elevated adrenocorticotropic hormone (96.4%) was the most common laboratory finding followed by hyponatremia (55%), hyperkalemia (32.7%), and hypoglycemia (33.7%). The median age at presentation was 6.5 ± 5.1 years (0.1-17.8 years) and the mean duration of symptoms before diagnosis was 5.6 ± 11.6 months (0-56 months) depending on etiology. Rate of adrenal crisis was 2.7 per 100 patient-years. Three patients died from the underlying disease. Adult height, evaluated in 70 patients, was -0.70 ± 1.20 standard deviation score.

Conclusions: We characterized one of the largest cohorts of children with PAI aiming to improve the knowledge on diagnosis of this rare condition.
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http://dx.doi.org/10.1210/clinem/dgaa881DOI Listing
March 2021

Safety and effectiveness of a somatropin biosimilar in children requiring growth hormone treatment: second analysis of the PATRO Children study Italian cohort.

J Endocrinol Invest 2021 Mar 15;44(3):493-503. Epub 2020 Jun 15.

Unit of Pediatric Endocrinology, S.Orsola-Malpighi Hospital, Bologna, Italy.

Purpose: To investigate the long-term safety (primary endpoint) and effectiveness (secondary endpoint) of the somatropin biosimilar Omnitrope.

Methods: PATRO Children is an ongoing, multicenter, observational, post-marketing surveillance study. Children who received Omnitrope for any indication were included. Adverse events (AEs) were evaluated in all study participants. Auxological data, including height standard deviation scores (HSDS) and height velocity standard deviation scores (HVSDS), were used to assess effectiveness. In this snapshot analysis, data from the Italian subpopulation up to August 2017 were reported.

Results: A total of 291 patients (mean age 10.0 years, 56.0% male) were enrolled at 19 sites in Italy. The mean duration of Omnitrope treatment was 33.1 ± 21.7 months. There were 48 AEs with a suspected relationship to the study drug (as reported by the investigator) that occurred in 35 (12.0%) patients, most commonly headache, pyrexia, arthralgia, insulin-like growth factor above normal range, abdominal pain, pain in extremity and acute gastroenteritis. There were no confirmed cases of type 1 or type 2 diabetes; however, two patients (0.7%) had impaired glucose tolerance that was considered Omnitrope related. The mean HSDS increased from - 2.41 ± 0.73 at baseline (n = 238) to - 0.91 ± 0.68 at 6.5 years (n = 10). The mean HVSDS increased from - 1.77 ± 1.38 at baseline (n = 136) to 0.96 ± 1.13 at 6.5 years (n = 10).

Conclusions: In this sub-analysis of PATRO Children, Omnitrope appeared to have acceptable safety and effectiveness in the treatment of in Italian children, which was consistent with the earlier findings from controlled clinical trials.
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http://dx.doi.org/10.1007/s40618-020-01331-4DOI Listing
March 2021

Comparative life cycle assessment of microalgae cultivation for non-energy purposes using different carbon dioxide sources.

Sci Total Environ 2020 Jun 5;721:137714. Epub 2020 Mar 5.

Department of Physics and Astronomy, University of Bologna, Viale Berti Pichat 6/2, 40127 Bologna, Italy; Interdepartmental Centre for Industrial Research in Renewable Resources, Environment, Sea and Energy, University of Bologna, via Sant'Alberto 163, 48123 Ravenna, Italy.

The ability of microalgae to sequester carbon and at the same time synthesise valuable compounds with potential applications in nutraceutical, pharmaceutical and cosmetic industries makes them attractive for commercial deployment, especially in view of a blue bioeconomy. Among microalgae, the diatom Phaeodactylum tricornutum is considered as an important potential source of omega-3 polyunsaturated fatty acids, such as eicosapentanoic acid, an essential polyunsaturated fatty acid with anti-inflammatory and antimicrobial properties. The aim of this study was to perform the Life Cycle Assessment of the cultivation of P. tricornutum - at semi-industrial scale in photobioreactor - for the production of high-quality bioactive compounds comparing synthetic carbon dioxide supply to a supply with waste carbon dioxide from a biogas upgrading process hypothesizing industrial symbiosis network. The effect of renewable energy use instead of the European electricity mix was also examined. Primary data on the production process, including the stages of cleaning and sterilisation, cultivation, harvesting and freeze-drying, were used. The midpoint impact categories recommended in the ILCD Handbook were used for performing the impact assessment. A sensitivity analysis was also performed on algal productivity, culture medium recirculation factor and amount of solvents per cleaning cycle. Firstly, results indicate in general cultivation and freeze-drying as the most contributing stages to the impacts. Secondly, they demonstrate in the comparative assessment that the use of carbon dioxide from the biogas upgrading is a feasible and attractive alternative to the synthetic one, as it allows for the improvement of the environmental performance of the production process in all the analysed impact categories. Finally, sensitivity analysis suggests that the environmental performance could be further improved by acting on other key factors, such as electricity source, nutrients culture medium and cleaning solutions.
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http://dx.doi.org/10.1016/j.scitotenv.2020.137714DOI Listing
June 2020
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