Unexpected Discovery of Thelypteris palustris (Thelypteridaceae) in Sicily (Italy): Morphological, Ecological Analysis and Habitat Characterization

Thelypteris palustris Schott (Thelypteridaceae), known as “marsh fern”, is infrequent in the Mediterranean area. The occurrence of this species is known for almost all the Italian regions (except for Sardinia and Sicily), but with rare and declining populations. During floristic fieldwork on the Sicilian wetlands, a new unknown population was found. The aim of this paper is to analyze the morphological traits of the species, as well as its ecological features and the floristic composition of the plant communities where it lives. According to IUCN guidelines, here we provide the regional assessment (Sicily) of T. palustris. To analyze its morphological features, many living plants were examined, with particular attention to the spore structure. A total of 179 plots (110 species) and 34 pools were sampled. Our results highlight the relic character of the species which is at the southernmost border of its distribution range. The micro-morphological investigations on the spores show that the Sicilian population belongs to the subsp. palustris. The floristic analysis confirms the clear dominance of perennial temperate-cold zones Eurasian taxa. Finally, a new association, Thelypterido palustris-Caricetum paniculatae, within the Caricion gracilis alliance (Phragmito-Magnocaricetea class) is described.

Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)—Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes

Recent advances in the detection of germline pathogenic variants (PVs) in BRCA1/2 genes have allowed a deeper understanding of the BRCA-related cancer risk. Several studies showed a significant heterogeneity in the prevalence of PVs across different populations. Because little is known about this in the Sicilian population, our study was aimed at investigating the prevalence and geographic distribution of inherited BRCA1/2 PVs in families from this specific geographical area of Southern Italy. We retrospectively collected and analyzed all clinical information of 1346 hereditary breast and/or ovarian cancer patients genetically tested for germline BRCA1/2 PVs at University Hospital Policlinico “P. Giaccone” of Palermo from January 1999 to October 2019. Thirty PVs were more frequently observed in the Sicilian population but only some of these showed a specific territorial prevalence, unlike other Italian and European regions. This difference could be attributed to the genetic heterogeneity of the Sicilian people and its historical background. Therefore hereditary breast and ovarian cancers could be predominantly due to BRCA1/2 PVs different from those usually detected in other geographical areas of Italy and Europe. Our investigation led us to hypothesize that a higher prevalence of some germline BRCA PVs in Sicily could be a population-specific genetic feature of BRCA-positive carriers.

The true panel of Cystic Fibrosis mutations in the Sicilian population

Background: the aim was to establish the true risk of having an affected child with Cystic Fibrosis (CF) in the Sicilian infertile population. Methods: a longitudinal CFTR screening of 1,279 Sicilian infertile patients for all CFTR mutations sequencing the entire gene by Next Generation Sequencing (NGS) was performed from patient’s blood. Results: one patient out of 16 was a carrier of a CFTR mutation. Twenty-four mutations were found. Theoretically one couple out of 256 was at risk of CF transmission. Conclusions: the risk of CF transmission is unexpectedly high in Sicily and with a high heterogeneity. Sequencing an entire and long gene such as CFTR makes accessible the true panel of mutations in a specific population and helps better to understand the true risk of having an affected child.

The true panel of Cystic Fibrosis mutations in the Sicilian population

Background: the aim was to establish the true risk of having an affected child with Cystic Fibrosis (CF) in the Sicilian infertile population. Methods: a longitudinal CFTR screening of 1,279 Sicilian infertile patients for all CFTR mutations sequencing the entire gene by Next Generation Sequencing (NGS) was performed from patient ‘blood. Results: one patient out of 16 was a carrier of a CFTR mutation. Twenty-four mutations were found. Theoretically one couple out of 256 was at risk of CF transmission. Conclusions: the risk of CF transmission is unexpectedly high in Sicily and with a high heterogeneity. Sequencing an entire and long gene such as CFTR makes accessible the real panel of mutations in a specific population and helps better to understand the true risk of having an affected child.

Amateur doping: a survey on Sicilian population

In the last years, amateur doping phenomenon has caused many victims. In order to know the diffusion of this phenomenon, we conducted an online survey thanks to Google forms. We also converted on paper the same questionnaire and we administered it in many gyms in Palermo and Trapani (Sicily, Italy). The examined sample consists of 976 people aged between 14 and 65 (47.3% of them are women and 52.7% are men). We asked them if they had ever taken substances to improve their athletic performances: 25.8% of them answered affirmatively and declared to take protein, amino acids, but also Ephedrine, Caffeine, Aspirin on a regular basis (34.6%). They bought these substances in sporting stores (32.2%), in pharmacy without prescription (26.8%), on the Internet (22.8%), in gyms (10.7%); 7.5% of them answered that they bought substances in other places. Furthermore, 17.9% of them declared that training companions, but also coaches and/or responsible of sports societies, proposed them to take doping-substances (Stanazolol, Tamoxifen, Testosterone, Erythropoietin, etc.). 16.8% of interviewed claimed that it is right to take substances with the purpose to improve their performances. However, 95% of respondents said they had never given such substances to their children. They also declared they wanted more information about the true risks related to uncorrected doping-substances intake. In conclusion, it appears necessary to adopt measures of information and prevention to reduce the diffusion of this dangerous phenomenon.