Publications by authors named "R Perniola"

42 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

Autoimmune Addison's Disease as Part of the Autoimmune Polyglandular Syndrome Type 1: Historical Overview and Current Evidence.

Front Immunol 2021 26;12:606860. Epub 2021 Feb 26.

Section of Internal Medicine and Endocrinological and Metabolic Sciences, Department of Medicine, University of Perugia, Perugia, Italy.

The autoimmune polyglandular syndrome type 1 (APS1) is caused by pathogenic variants of the autoimmune regulator () gene, located in the chromosomal region 21q22.3. The related protein, AIRE, enhances thymic self-representation and immune self-tolerance by localization to chromatin and anchorage to multimolecular complexes involved in the initiation and post-initiation events of tissue-specific antigen-encoding gene transcription. Once synthesized, the self-antigens are presented to, and cause deletion of, the self-reactive thymocyte clones. The clinical diagnosis of APS1 is based on the classic triad idiopathic hypoparathyroidism (HPT)-chronic mucocutaneous candidiasis-autoimmune Addison's disease (AAD), though new criteria based on early non-endocrine manifestations have been proposed. HPT is in most cases the first endocrine component of the syndrome; however, APS1-associated AAD has received the most accurate biochemical, clinical, and immunological characterization. Here is a comprehensive review of the studies on APS1-associated AAD from initial case reports to the most recent scientific findings.
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http://dx.doi.org/10.3389/fimmu.2021.606860DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7953157PMC
July 2021

Native Vineyard Non- Yeasts Used for Biological Control of in Stored Table Grape.

Microorganisms 2021 Feb 22;9(2). Epub 2021 Feb 22.

Dipartimento di Biologia, Università degli Studi di Bari "Aldo Moro", Via Orabona 4, 70124 Bari, Italy.

Postharvest spoilage fungi, such as , are considered the main cause of losses of fresh fruit quality and vegetables during storage, distribution, and consumption. The current control strategy is the use of SO generator pads whose application is now largely under observation. A high quantity of SO can be deleterious for fresh fruits and vegetables and it is not allowed in organic agriculture. For this reason, great attention has been recently focused on identifying Biological Control Agents (BCA) to implement biological approaches devoid of chemicals. In this direction, we carried out our study in isolating five different non- yeast strains from local vineyards in the South of Italy as possible BCA. We performed both in vitro and in vivo assays in semi-commercial conditions on detached grape berries stored at 0 °C, simulating the temperature normally used during cold storage, and obtained relevant results. We isolated three strains and one strain able to largely antagonize the development of the , at both in vitro and in vivo conditions. In particular, we detected the ability of the three isolates of strains Ale4, N20/006, and Pr7 and the strain N10 to completely inhibit (100% in reduction) the mycelial growth of by producing fungistatic compounds. We found, using an extracellular lytic enzymes activity assay, that such activity could be related to lipid hydrolyzation, β-1,3-glucanase and pectinase activity, and pectinase and protease activity, depending on the yeasts used. Results from our in vitro assays allowed us to hypothesize for strains Ale4 and N20/006 a possible combination of both the production of soluble metabolites and volatile organic compounds to antagonize against growth. Moreover, in semi-commercial conditions, the strain N20/006 and strain N10 showed relevant antagonistic effect also at low concentrations (with a significantly reduction of 'slip skin' incidence of 86.4% and 72.7%, respectively), thus highlighting a peculiar property to use in commercial development for organic agriculture and the handling process.
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http://dx.doi.org/10.3390/microorganisms9020457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7926336PMC
February 2021

Color Stabilization of Apulian Red Wines through the Sequential Inoculation of and .

Molecules 2021 Feb 9;26(4). Epub 2021 Feb 9.

Consiglio per la Ricerca in Agricoltura e L'analisi Dell'economia Agraria-Centro di Ricerca Viticoltura ed Enologia (CREA-VE), Turi, 148-70010 Bari, Via Casamassima, Italy.

Mixed fermentation using and has gained attention in recent years due to their ability to modulate the qualitative parameters of enological interest, such as the color intensity and stability of wine. In this study, three of the most important red Apulian varieties were fermented through two pure inoculations of strains or the sequential inoculation of after 48 h from . The evolution of anthocyanin profiles and chromatic characteristics were determined in the produced wines at draining off and after 18 months of bottle aging in order to assess the impact of the different fermentation protocols on the potential color stabilization and shelf-life. The chemical composition analysis showed titratable acidity and ethanol content exhibiting marked differences among wines after fermentation and aging. The 48 h inoculation delay produced wines with higher values of color intensity and color stability. This was ascribed to the increased presence of compounds, such as stable A-type vitisins and reddish/violet ethylidene-bridge flavonol-anthocyanin adducts, in the mixed fermentation. Our results proved that the sequential fermentation of and could enhance the chromatic profile as well as the stability of the red wines, thus improving their organoleptic quality.
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http://dx.doi.org/10.3390/molecules26040907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7915498PMC
February 2021

NIR Analysis of Intact Grape Berries: Chemical and Physical Properties Prediction Using Multivariate Analysis.

Foods 2021 Jan 7;10(1). Epub 2021 Jan 7.

Consiglio per la Ricerca in Agricoltura e L'analisidell'Economiaagrarian-Centro di RicercaViticoltura ed Enolgia (CREA- VE), 148-70010 Turi (Ba), Italy.

Texture characteristics are valuable parameters in the perceived quality and overall acceptability of fresh fruit. The characterization of grape texture attributes, such as firmness and crunchiness, is usually performed by sensory analysis or instrumental texture analysis. Both methodologies are destructive. Hence, it is not possible to test multiple times or perform any other analysis on the same sample. In this article, near-infrared (NIR) spectroscopy was applied to intact berries of table grape cv. Regal Seedless. NIR spectra were employed to predict both the physical parameter "hardness", which is correlated with the crunchiness of berry flesh and the sweetness, which is correlated with the total soluble solids content (TSS, as °Brix). The chemometric analysis was carried out exclusively based on an open-source software environment, producing results readily usable for any operator, besides the specific level of experience with NIR spectroscopy.
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http://dx.doi.org/10.3390/foods10010113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7827816PMC
January 2021
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