A Challenging Nodular Lesion of the Ear

Skin nodular lesion are really frequent, but rapidly growing ones needs to be quickly removed since they can hide really aggressive skin tumor. Among malignant lesion Merkel cell carcinoma arise. It is a rare neuroendocrine skin tumor highly aggressive, not easy to diagnose at first stage, since at first diagnosis it is already widespreading all over the body. In order to renew interest in this letal skin tumori is mandatory to remind high risk population which include elderly people, white skin, chronically exposed to UV immunocompromised. Our unhappy case was described to increase awareness on this kind of skin tumor, since new drug appeared in the market can give an hope to these patients

The megalithic building of S.Erasmo di Cesi: architecture, astronomy, and landscape

Abstract. One of the most enigmatic megalithic buildings of Italy is the structure which lies on the S. Erasmo hill near Cesi, in Umbria, a huge complex encompassing an area of around 8000 square meters and enclosed by refined cyclopean walls. Although its date is uncertain, suggested dates comprise the Iron Age and archaic period, down to the third century B.C. The building’s function is also uncertain. Usually identified as a fortified structure, in fact there is a megalithic platform at the southern end of the enclosure which could have served as foundation of a temple or palace and, from the top of Monte Torre Maggiore, a complex of temples dating from the fourth century B.C. overlooks the hill. Similar combinations of megalithic buildings resting half-way to temples placed on high peaks are known to exist. In order to clarify the function of this structure and its position in relation to the surrounding landscape, with particular attention to its visibility and to the directions of visibility from the complex, as well as to the possible astronomical alignments, we present a multi-disciplinary approach to the study of the S. Erasmo complex, which includes the mapping of the sky at the various possible epochs of construction, the creation of a digital model of the landscape in forms of digital maps using Geographic Information System technologies, and a 3D model using various 3D software packages

Enrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia

Despite recent progress in acute lymphoblastic leukemia (ALL) therapies, a significant subset of adult and pediatric ALL patients has a dismal prognosis. Better understanding of leukemogenesis and recognition of germline genetic changes may provide new tools for treating patients. Given that hematopoietic stem cell transplantation, often from a family member, is a major form of treatment in ALL, acknowledging the possibility of hereditary predisposition is of special importance. Reports of comprehensive germline analyses performed in adult ALL patients are scarce. Aiming at fulfilling this gap of knowledge, we investigated variants in 93 genes predisposing to hematologic malignancies and 70 other cancer-predisposing genes from exome data obtained from 61 adult and 87 pediatric ALL patients. Our results show that pathogenic (P) or likely pathogenic (LP) germline variants in genes associated with predisposition to ALL or other cancers are prevalent in ALL patients: 8% of adults and 11% of children. Comparison of P/LP germline variants in patients to population-matched controls (gnomAD Finns) revealed a 2.6-fold enrichment in ALL cases (CI 95% 1.5-4.2, p = 0.00071). Acknowledging inherited factors is crucial, especially when considering hematopoietic stem cell transplantation and planning post-therapy follow-up. Harmful germline variants may also predispose patients to excessive toxicity potentially compromising the outcome. We propose integrating germline genetics into precise ALL patient care and providing families genetic counseling.Peer reviewe

Image resampling and discretization effect on the estimate of myocardial radiomic features from T1 and T2 mapping in hypertrophic cardiomyopathy

Radiomics is emerging as a promising and useful tool in cardiac magnetic resonance (CMR) imaging applications. Accordingly, the purpose of this study was to investigate, for the first time, the effect of image resampling/discretization and filtering on radiomic features estimation from quantitative CMR T1 and T2 mapping. Specifically, T1 and T2 maps of 26 patients with hypertrophic cardiomyopathy (HCM) were used to estimate 98 radiomic features for 7 different resampling voxel sizes (at fixed bin width), 9 different bin widths (at fixed resampling voxel size), and 7 different spatial filters (at fixed resampling voxel size/bin width). While we found a remarkable dependence of myocardial radiomic features from T1 and T2 mapping on image filters, many radiomic features showed a limited sensitivity to resampling voxel size/bin width, in terms of intraclass correlation coefficient (> 0.75) and coefficient of variation (< 30%). The estimate of most textural radiomic features showed a linear significant (p < 0.05) correlation with resampling voxel size/bin width. Overall, radiomic features from T2 maps have proven to be less sensitive to image preprocessing than those from T1 maps, especially when varying bin width. Our results might corroborate the potential of radiomics from T1/T2 mapping in HCM and hopefully in other myocardial diseases

RAP80 Targets BRCA1 to Specific Ubiquitin Structures at DNA Damage Sites

Mutations affecting the BRCT domains of the breast cancer–associated tumor suppressor BRCA1 disrupt the recruitment of this protein to DNA double-strand breaks (DSBs). The molecular structures at DSBs recognized by BRCA1 are presently unknown. We report the interaction of the BRCA1 BRCT domain with RAP80, a ubiquitin-binding protein. RAP80 targets a complex containing the BRCA1-BARD1 (BRCA1-associated ring domain protein 1) E3 ligase and the deubiquitinating enzyme (DUB) BRCC36 to MDC1-γH2AX–dependent lysine6 - and lysine63-linked ubiquitin polymers at DSBs. These events are required for cell cycle checkpoint and repair responses to ionizing radiation, implicating ubiquitin chain recognition and turnover in the BRCA1-mediated repair of DSBs

Low energy radioactive ion beams at SPES for nuclear physics and medical applications

Over the past decades many accelerator facilities have been built in order to produce radioactive nuclei. Among the falcility under construction, SPES (Selective Production of Exotic Species) is the Italian ISOL (Isotope Separation On Line) facility in the installation phase in these years in the Laboratori Nazionali di Legnaro. The innovative aspect of this facility is that the radioactive beam produced by fission induced by the proton beam, produced by a high power cyclotron, interact with a multi-disks uranium carbide target. The formed RIB will be sent directly to the low energy experimental area and, afterwards, to the post-acceleration complex. Currently the installation program concerning the SPES RIB source provides the set-up of the apparatus around the production bunker. The main objective of SPES project is to provide, in the next years, the first low-energy radioactive beams for beta decay experiments using the b-DS (beta Decay Station) set-up and for radiopharmaceutical applications by means of the IRIS (ISOLPHARM Radioactive Implantation Station) apparatus. In this work, all the specific issues related to the SPES RIB and the Low Energy beam lines will be reported. The main RIB systems, such as ion source systems, target-handling devices and the installation of low energy transport line, will be presented in detail

Predictive ability of an early diagnostic guess in patients presenting with chest pain; a longitudinal descriptive study

The intuitive early diagnostic guess could play an important role in reaching a final diagnosis. However, no study to date has attempted to quantify the importance of general practitioners' (GPs) ability to correctly appraise the origin of chest pain within the first minutes of an encounter. The validation study was nested in a multicentre cohort study with a one year follow-up and included 626 successive patients who presented with chest pain and were attended by 58 GPs in Western Switzerland. The early diagnostic guess was assessed prior to a patient's history being taken by a GP and was then compared to a diagnosis of chest pain observed over the next year. Using summary measures clustered at the GP's level, the early diagnostic guess was confirmed by further investigation in 51.0% (CI 95%; 49.4% to 52.5%) of patients presenting with chest pain. The early diagnostic guess was more accurate in patients with a life threatening illness (65.4%; CI 95% 64.5% to 66.3%) and in patients who did not feel anxious (62.9%; CI 95% 62.5% to 63.3%). The predictive abilities of an early diagnostic guess were consistent among GPs. The GPs early diagnostic guess was correct in one out of two patients presenting with chest pain. The probability of a correct guess was higher in patients with a life-threatening illness and in patients not feeling anxious about their pain