Role of spontaneous plants as a reservoir of alternative hosts for Semielacher petiolatus (Girault) and Citrostichus phyllocnistoides (Narayanan) (Hymenoptera, Eulophidae) in citrus groves

The role spontaneous plants could eventually play towards populations of two exotic parasitoids, Semielacher petiolatus (Girault) and Citrostichus phyllocnistoides (Narayanan), was investigated in five Sicilian citrus groves. Both species were obtained from two herbs typically living beneath the citrus trees in the period of scarce availability of P. citrella larvae on citrus plants, and precisely: S. petiolatus was reared from Cosmopterix pulcherimella Chambers, leafminer on Parietaria diffusa M. et K., while C. phyllocnistoides on the same species and on a Liriomyza species associated to Mercurialis annua L., these last two host records being new for the parasitoid. Vegetational diversity can then enhance survival and maintenance of populations of exotic parasitoids in citrus agroecosystem, providing them with alternative hosts. The incidence of parasitism of S. petiolatus and C. phyllocnistoides on non-target hosts was, however, so low (2.8% for S. petiolatus on C. pulcherimella, and 8.3% and 3.3% for C. phyllocnistoides on C. pulcherimella and Liriomyza sp. respectively) that a negative impact on both native leafminer and autochthonous parasitoid populations can be excluded

Le comunità di fillominatori e parassitoidi della Riserva Naturale “Bosco d’Alcamo” (Sicilia)

È stata studiata la comunità di fillominatori e parassitoidi su 16 specie di piante spontanee della Riserva Naturale “Bosco d’Alcamo”. Sono state rinvenute 17 specie di Lepidoptera e 7 specie di Diptera. Da queste sono sfarfallate circa 20 specie di parassitoidi, perlopiù rappresentate da Eulophidae e Braconidae. Viene confermata la presenza in Sicilia del Gracillariidae Phyllonorycter trifasciella Haworth e dell’Eulophidae Derostenus gemmeus Westwood. Per la prima volta Sympiesis notata (Zetterstedt) e Cirrospilus viticola (Rondani) sono stati rinvenuti come parassitoidi di Emme- tia marginea (Haworth). Inoltre S. notata è stata rinvenuta anche come parassitoide di P. trifasciella. Nel complesso viene confermato il ruolo importante dei boschi naturali, soprattutto querceti, come riserva di entomofauna e di diversità biologica.Leafminer and parasitoid community of the Nature Reserve “Bosco d’Alcamo” (Sicily). The leafminer and parasitoid communities of the Nature Reserve “Bosco D’Alcamo” was studied on 16 spontaneous plants. 17 Lepidoptera and 7 Diptera species were detected. About 20 parasitoid species emerged mainly represented by Eulophidae and Braconidae. The presence in Sicily of the Gracillariidae Phyllonorycter trifasciella Haworth was confirmed, as well as that of Eulophidae Derostenus gemmeus Westwood. Sympiesis notata (Zetterstedt) and Cirrospilus viticola (Rondani) were recorded for the first time as parasitoid of Emmetia marginea (Haworth). S. notata was record- ed also as a new parasitoid of P. trifasciella. The important role of natural woods, especially oaks, as reservoir of entomofauna and biodiversity was confirmed

Penile, Uretral and Seminal Sampling for Diagnosis of Human Papillomavirus Infection in Men.

Methods that used specimens from three genital sites (penile brushing [PB], urethral brushing [UB], and the retrieval of semen [SE]) from 50 men were examined for human papillomavirus (HPV) DNA detection. The rates of detection by PB, UB, SE, PB and UB, and PB and SE were 88.9%, 50.0%, 33.3%, 100%, and 97.2%, respectively. The use of PB and UB appears to be the most accurate method; as an alternative to UB, the use of SE with PB could be used to improve the rate of HPV DNA detection in men

Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction

PALB2 (partner and localizer of BRCA2) was initially identified as a binding partner of BRCA2. It interacts also with BRCA1 forming a complex promoting DNA repair by homologous recombination. Germline pathogenic variants in BRCA1, BRCA2 and PALB2 DNA repair genes are associated with high risk of developing breast cancer. Mutation screening in these breast cancer predisposition genes is routinely performed and allows the identification of individuals who carry pathogenic variants and are at risk of developing the disease. However, variants of uncertain significance (VUSs) are often detected and establishing their pathogenicity and clinical relevance remains a central challenge for the risk assessment of the carriers and the clinical decision-making process. Many of these VUSs are missense variants leading to single amino acid substitutions, whose impact on protein function is uncertain. Typically, VUSs are rare and due to the limited genetic, clinical, and pathological data the multifactorial approaches used for classification cannot be applied. Thus, these variants can only be characterized through functional analyses comparing their effect with that of normal and mutant gene products used as positive and negative controls. The two missense variants BRCA2:c.91T >G (p.Trp31Gly) and PALB2:c.3262C >T (p.Pro1088Ser) were detected in two breast cancer probands originally ascertained at Breast Cancer Units of Institutes located in Milan and Bergamo (Northern Italy), respectively. These variants were located in the BRCA2-PALB2 interacting domains, were predicted to be deleterious by in silico analyses, and were very rare and clinically not classified. Therefore, we initiate to study their functional effect by exploiting a green fluorescent protein (GFP)-reassembly in vitro assay specifically designed to test the BRCA2-PALB2 interaction. This functional assay proved to be easy to develop, robust and reliable. It also allows testing variants located in different genes. Results from these functional analyses showed that the BRCA2:p.Trp31Gly and the PALB2:p.Pro1088Ser prevented the BRCA2-PALB2 binding. While caution is warranted when the interpretation of the clinical significance of rare VUSs is based on functional studies only, our data provide initial evidences in favor of the possibility that these variants are pathogenic

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM -/- patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM -/- patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Abstract: Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors

As Práticas de Ensino e a sua Relação com os resultados em leitura no 1º e 3º ano de Escolaridade

Dissertação de Mestrado realizada sob a orientação da Pro. Doutora Isabel Leal, apresentada no ISPA – Instituto Universitário para obtenção de grau de Mestre na especialidade de Psicologia Educacional.Inexistent