BRCA-associated hereditary male cancers: can gender affect the prevalence and spectrum of germline pathogenic variants?

IntroductionAlthough hereditary male neoplasms are quite rare, individuals harbouring germline BRCA1/2 pathogenic variants (PVs) may have a risk of developing tumours associated with Hereditary Breast and Ovarian Cancer (HBOC) syndrome, including male breast (MBC), prostate (PCa) and pancreatic (PC) cancers, and melanoma. Women and men showed a comparable genetic architecture of cancer susceptibility, but there are some gender-specific features. Since little is known about cancer genetic susceptibility in male population, our study was aimed at investigating the frequency of BRCA1/2 PVs in men with HBOC syndrome-associated tumors, in order to understand whether differences in gender may reflect in the prevalence and spectrum of germline alterations.Patients and methodsWe retrospectively collected and analysed clinical information of 352 HBOC-associated male cancer patients genetically tested for germline BRCA1/2 PVs by Next-Generation Sequencing analysis, enrolled, from February 2018 to January 2024, at the “Regional Center for the prevention, diagnosis and treatment of rare and heredo-familial tumors of adults” of the University-Hospital Policlinico “P. Giaccone” of Palermo (Italy).ResultsOur investigation revealed that 7.4% of patients was carrier of a germline BRCA PV, with an almost total prevalence of BRCA2 alterations. In particular, 65.4% of BRCA-positive patients developed MBC, 19.2% had PC, 11.6% developed PCa, and only 3.8% had melanoma. Specifically, MBC individuals showed a BRCA-associated genetic predisposition in 17% of cases, whereas patients with PCa or PC exhibited a lower frequency of BRCA2 PVs, taking into account the current national criteria for access to germline genetic testing.DiscussionOur study showed a high heterogeneity in prevalence of germline BRCA2 PVs among men which could reflect a potential gender-specific genetic heterogeneity. Therefore, BRCA-associated male tumours could be due to BRCA2 PVs different from those usually detected in women. In the event that it is demonstrated, in future, that male cancers are genetically distinct entities from those female this could improve personalized risk evaluation and guide therapeutic choices for patients of both sexes, in order to obtain a gender equality in cancer care

Superior mesenteric artery syndrome after scoliosis surgery

No abstract availabl

Vertebral fracture assessment by new dual-energy X-ray absorptiometry

none9noThe aim of this study was to investigate the diagnostic performance of new dual-energy X-ray absorptiometry (DXA) technologies in the detection of vertebral fractures (VFs). Sixty-eight patients were submitted to DXA and conventional radiography (XR) on the same day. Lateral images of the spine were independently evaluated by three radiologists with different experience in skeletal imaging, in two sessions with 7 days between evaluations of the same anonymous images. The most expert physician repeated the analysis in a subsequent reading session after further 7 days. Results from expert XR evaluation were considered as gold standard. A semiquantitative approach was used to interpret images and morphometric analysis was performed when a VF was suspected. Seventy vertebrae (70/884, 7.9%) were excluded from the lesion-based analysis, as not evaluable: 11/70 (15.7%) missed by XR only, 56/70 (80.0%) missed by DXA only, 3/70 (4.3%) missed by both techniques (upper thoracic spine). Forty "true" fractures were detected (4.9% out of 814 vertebrae) in 26 patients (38.2% of the 68 studied patients). Twenty-five (62.5%) were mild fractures. DXA sensitivity and specificity were 70.0% and 98.3% on a lesion-based analysis, 73.1% and 90.5% on a patient-based analysis. Intra-observer agreement was excellent with no significant difference between the two techniques. Inter-observer agreement among the 3 observers was higher for XR (k=0.824 versus 0.720 in the detection of VFs, p=0.011). DXA accuracy was not influenced by radiologist experience; T4-L4 assessability as well as reproducibility and repeatability of the two techniques and accuracy of DXA were independent from sex, age, body mass index, grade of arthrosis. However DXA sensitivity was affected by mild VFs. Vertebral level did not affect the diagnostic performance with exception of vertebral body assessability. Latest improvements make VFs assessment by DXA competitive with traditional radiographic gold standard, providing consistent advantages and attractions. Few limitations still affect DXA performance and need to be overcome.openAlberto Bazzocchi; Paolo Spinnato; Federica Fuzzi; Danila Diano; Antonio M. Morselli-Labate; Claudia Sassi; Eugenio Salizzoni; Giuseppe Battista; Giuseppe GuglielmiAlberto Bazzocchi; Paolo Spinnato; Federica Fuzzi; Danila Diano; Antonio M. Morselli-Labate; Claudia Sassi; Eugenio Salizzoni; Giuseppe Battista; Giuseppe Guglielm

Explaining crash predictions on multivariate time series data

In Assicurazioni Generali, an automatic decision-making model is used to check real-time multivariate time series and alert if a car crash happened. In such a way, a Generali operator can call the customer to provide first assistance. The high sensitivity of the model used, combined with the fact that the model is not interpretable, might cause the operator to call customers even though a car crash did not happen but only due to a harsh deviation or the fact that the road is bumpy. Our goal is to tackle the problem of interpretability for car crash prediction and propose an eXplainable Artificial Intelligence (XAI) workflow that allows gaining insights regarding the logic behind the deep learning predictive model adopted by Generali. We reach our goal by building an interpretable alternative to the current obscure model that also reduces the training data usage and the prediction time

Taxidermal Preparations of an Extinct Sicilian Wolf Population (Canis lupus Linnaeus, 1758): Biological Studies and Restoration

In last decades, biotechnologies have enabled a deep development of knowledge in all fields of life sciences, allowing the collection of a wide range of data. Furthermore, the relationship between scientific investigations and conservation actions of cultural heritage is increasingly consolidated and now it is one of the peculiar points both for sustainable restoration and use of the cultural asset, also evaluating the cultural assets as source of biological information. In this study, Sicilian wolf (Canis lupus) specimens conserved in Sicilian Natural Museums, become a source of biological information on Sicilian biodiversity, establishing specific conservative protocol developed cooperatively with Sicilian Natural Museums. Using Next-Generation Sequencing technique, ancient DNA (aDNA) molecules extracted from nail were utilized to perform the complete mitochondrial DNA genome sequence. Phylogenetic analyses showed that this genome, which was aligned with a number of historical and extant complete wolf and dog mtDNAs sampled worldwide, was closely related to an Italian wolf mtDNA genome. These mtDNA findings suggest that wolves probably colonized Sicily from southern Italy toward the end of the last Pleistocene glacial maximum, when the Strait of Messina was almost totally dry. Furthermore, a conservative restoration of this peculiar natural specimen (taxidermal preparation) has been performed, basing on: recovery of unglued or unstitched parts; revitalization of the colors of the mucous membranes; restoration of deformed or broken parts of the body, washing of the coat and polishing of the fur; specific treatments against woodworms, moths, and mites; brushing and repositioning of the hair; cleaning, restoration, or creation of adequate supports or display case. The conservative intervention that should be periodically performed on each taxidermized specimen allows the protection against biodeterioration or re-infestation by parasites over time

Update of the distribution and habitat use of the wildcat, pine marten and weasel in Sicily

The wildcat (Felis silvestris), the pine marten (Martes martes) and the weasel (Mustela nivalis) are key members of the mammalian community in Sicily, actually performing the role of top predators and consequently influencing the trophic chain both in natural and agricultural areas. However, despite their protected status, very little information is available regarding their occurrence and ecology. Here, by verifying published studies, collecting personal observations and analyzing novel field data obtained by camera traps, we update their spatial distribution in Sicily, contributing to a better understanding of their habitat use and suggesting future research to improve our knowledge of these carnivores and to ensure their conservation