Molecular barcoding applied to the Mediterranean turtles biological matrices

Barcoding allows the characterisation of tiny samples from living species and the differentiation of morphologically similar specimens. It is a practical tool that can be used in cases of damaged samples and it is also useful for taxonomical characterisation of specimens at immature developmental stages.peer-reviewe

Genetic database development for the characterization of Sicilian sheep population

There are various studies on European sheep, but few datasets have been developed based on the population of Sicilian sheep. The reference database will include allele frequencies at each locus and will determine genetic parameters for Sicilian ovine species selection.peer-reviewe

Identification of subspecies and parentage relationship by means of DNA fingerprinting in two exemplary of Pan troglodytes (Blumenbach, 1775) (Mammalia Hominidae)

Four chimpanzee subspecies (Mammalia Hominidae) are commonly recognised: the Western Chimpanzee, P. troglodytes verus (Schwarz, 1934), the Nigeria-Cameroon Chimpanzee, P. troglodytes ellioti, the Central Chimpanzee, P. troglodytes troglodytes (Blumenbach, 1799), and the Eastern Chimpanzee, P. troglodytes schweinfurthii (Giglioli, 1872). Recent studies on mitochondrial DNA show the incorporation of P. troglodytes schweinfurthii in P. troglodytes troglodytes, suggesting the existence of only two subspecies: P. troglodytes troglodytes in Central and Eastern Africa and P. troglodytes verus-P. troglodytes ellioti in West Africa. The aim of the present study is twofold: first, to identify the correct subspecies of two chimpanzee samples collected in a Biopark structure in Carini (Sicily, Italy), and second, to verify whether there was a kinship relationship between the two samples through techniques such as DNA barcoding and microsatellite analysis. DNA was extracted from apes’ buccal swabs, the cytochrome oxidase subunit 1 (COI) gene was amplified using universal primers, then purified and injected into capillary electrophoresis Genetic Analyzer ABI 3130 for sequencing. The sequence was searched on the NCBI Blast database. In addiction, the microsatellite analysis was performed on the same machine for parentage detection among samples, and data were analyzed with GenMapper software. Our results show that both samples were P. troglodytes troglodytes, while the analysis of the microsatellite results in an unclear relationship between two chimpanzee samples

Genetic database development for the characterisation of Sicilian sheep population

The most representative sheep in Sicily are Belicina, Comisana, Pinzirita, Barbarescaand the crossbred derived sheep from all this species. In this study, the allelic frequencies of the Sicilian sheep population were investigated. It currently represents the best way to determine the genetic identity and/or family even with limited amounts of sample or when the DNA is degraded. The aim of the study was to provide a reference data bank and to evaluate a microsatellite panel for pedigree analysis as suggested by the International Society for Animal Genetics (ISAG). There are various studies on European sheep, but few datasets were developed on the population of Sicilian sheep. The reference database will include allele frequencies at each locus and will determine genetic parameters for Sicilian ovine species selection. Our results indicated that Hardy Weinberg equilibrium was not always maintained. These results could be explained by a non-random mating. The database is useful to investigate the relationship, the parentage the meat traceability and in disease control programs. The standardized panels of allele frequencies represent a molecular fingerprinting characterizing the subjects with very high definition level and can be useful to control all the livestock. The parentage identification could be important for the veterinary police to investigate the theft or the animal substitutions in the Sicilian farms

Should paediatric endocrinologists consider more carefully when to perform a stimulation test?

Introduction: Pediatric endocrinology rely greatly on hormone stimulation tests which demand time, money and effort. The knowledge of the pattern of pediatric endocrinology stimulation tests is therefore crucial to optimize resources and guide public health interventions. Aim of the study was to investigate the distribution of endocrine stimulation tests and the prevalence of pathological findings over a year and to explore whether single basal hormone concentrations could have saved unnecessary stimulation tests. Methods: Retrospective study with data collection for pediatric endocrine stimulation tests performed in 2019 in a tertiary center. Results: Overall, 278 tests were performed on 206 patients. The most performed test was arginine tolerance test (34%), followed by LHRH test (24%) and standard dose Synachten test (19%), while the higher rate of pathological response was found in insulin tolerance test to detect growth hormone deficiency (81%), LHRH test to detect central precocious puberty (50%) and arginine tolerance test (41%). No cases of non classical-congenital adrenal hyperplasia were diagnosed. While 29% of growth hormone deficient children who performed an insulin tolerance test had a pathological peak cortisol, none of them had central adrenal insufficiency confirmed at low dose Synacthen test. The use of basal hormone determinations could save up to 88% of standard dose Synachten tests, 82% of arginine tolerance + GHRH test, 61% of LHRH test, 12% of tests for adrenal secretion. Conclusion: The use of single basal hormone concentrations could spare up to half of the tests, saving from 32,000 to 79,000 euros in 1 year. Apart from basal cortisol level <108 nmol/L to detect adrenal insufficiency and IGF-1 <-1.5 SDS to detect growth hormone deficiency, all the other cut-off for basal hormone determinations were found valid in order to spare unnecessary stimulation tests

Reduction in pediatric growth hormone deficiency and increase in central precocious puberty diagnoses during COVID 19 pandemics

11noBackground: While several studies have been published so far on the effect of COVID-19 pandemic on health care for non-COVID-19 diseases, to date no study evaluated the impact of the COVID-19 pandemic on the entire field of pediatric endocrinology. This study aimed to evaluate differences in pediatric endocrine stimulation tests after the advent of COVID-19 pandemics. Methods: Retrospective study with data collection for pediatric endocrine stimulation tests performed in 2019 and 2020 in a tertiary center. Results: Overall, 251 tests were performed on 190 patients in 2020, compared to 278 tests on 206 patients in 2019 (-10% tests; -8% children evaluated). A significant reduction was found in tests to diagnose growth hormone deficiency (GHD) (-35%), while LHRH tests increased (+22%). A reduction of 30% in GHD diagnosis was observed. Central precocious puberty (CPP) diagnosis increased by 38% compared to 2019, mainly in females. Conclusion: This study found a significant reduction of tests investigating GHD during COVID-19 pandemics. It also showed a clinically meaningful increase in cases of CPP in girls. These results suggest the need for families and pediatricians to monitor children's growth during isolation and enlighten new perspectives towards conditions associated with lockdown restrictions as increased screen time, social isolation, and children's anxiety as possible triggers of CPP.openopenMartina Peinkhofer; Benedetta Bossini; Arturo Penco; Manuela Giangreco; Maria Chiara Pellegrin; Viviana Vidonis; Giada Vittori; Nicoletta Grassi; Elena Faleschini; Egidio Barbi; Gianluca TornesePeinkhofer, Martina; Bossini, Benedetta; Penco, Arturo; Giangreco, Manuela; Pellegrin, MARIA CHIARA; Vidonis, Viviana; Vittori, Giada; Grassi, Nicoletta; Faleschini, Elena; Barbi, Egidio; Tornese, Gianluc

A comprehensive one-year correlation analysis between prevalence and number of sars-cov-2 rna copies detected in wastewater from 8 sicilian cities in italy

Background and objectives: Several authors have reported positive correlations between wastewater SARS-CoV-2 concentrations and the community’s burden of infection, providing information about the disease’s epidemiological trend. This pre-post study evaluated – within a year of active surveillance, from October 1st,2021, to September 30th, 2022 – the relation between daily SARSCoV-2 prevalence and the number of genome copies/L detected in West Sicily wastewater samples. This study is part of a national framework coordinated by Istituto Superiore di Sanità. Methods: Quantitative data from analysing 486 wastewater samples collected from 9 purification plants in 8 Sicilian cities (Agrigento, Bagheria, Caltanissetta, Enna, Marsala, Mazara del Vallo, Palermo, and Trapani) were obtained. Correlation and logistic regression analysis were performed between the communal-based aggregated prevalence of daily SARS-CoV-2 cases obtained from the integrated national surveillance system and the number of genomic copies/L derived from wastewater analysis for different times (day-prevalence t0, t7, t14) and different periods (0- to 6-, 6- to 12- and comprehensive 12 months). Results: A moderate-high correlation index was retrieved for 0- to 6- months (October 2021–March 2022, t0: r=0.75, R2=0.57; t7 r=0.76, R2=0.58, t14 r=0.76, R2=0.58) and overall analyses (October 2021–October 2022, t0 r=0.63, R2=0.40; t7 r=0.62, R2=0.38; t14 r=0.59, R2=0.35). On the other hand, 6- to 12- months analysis displayed a relevant decline in correlation (March 2022–October 2022, t0 r=0.19, R2=0.04; t7 r=0.17, R2=0.03, p=0.004; t14 r=0.11, R2=0.01). All data except t14 were statistically significant (p&lt;0.0001). Conclusions: Significance results were displayed for 0- to 6- and overall analysis at 0,7 and 14 days. Despite 6- to 12- months samples tested positive for RNA copies, a progressive loss of significance was found probably mainly attributable to a progressive loss of function in prevalence estimation of the swab-related SARSCoV-2 positivity detecting system due to underreporting of cases