THE POLVESE ISLAND (TRASIMENO LAKE-UMBRIA): A DIDACTIC AND SCIENTIFIC ROUTE

Le caratteristiche paesaggistiche, ambientali e culturali s.l. del Lago Trasimeno ne fanno uno dei più importanti geositi/geomorfositi dell’Italia centrale. La visita all’Isola Polvese, in particolare, rappresenta una tappa interessante sotto il profilo geologico- geomorfologico e naturalistico; si tratta dell’isola più estesa del lago che offre peculiarità importanti sotto questi aspetti e che possono essere colti e trasmessi in un percorso articolato sia lungo le sponde che al suo interno. Il “giro” dell’isola, che può essere percorso agevolmente permette, non solo di apprezzare l’articolato scenario geomorfologico attraverso una passeggiata costiera, ma di ammirare anche tutta la gamma di specie vegetali, diversamente distribuite nell’arco dell’anno. L’Isola, infatti, da molti anni è oggetto di escursioni didattiche a vario livello (dalle Scuole Elementari alle Università) e rappresenta una “palestra” ideale in cui attivare input alla ricerca, esercitare alla osservazione e riconoscimento dei vari elementi paesaggistici, fornendo le basi per l’elaborazione di dati acquisiti di vario ambito culturale. Sono presenti, inoltre, strutture monumentali legate alla presenza antropica, anche datata nell’isola, che rappresentano, pertanto, un valore aggiunto al percorso.The characteristics of the landscape of the Trasimeno Lake, both environmental and cultural, make it one of the most important geosites/geomorphosites of central Italy. The visit of the Polvese Island, in particular, represents an interesting step from the naturalistic and geologic-geomorphologic viewpoints. The Polvese Island is the largest of the Lake and offers important peculiarities which can be acquired through an articulated tour around the coast and across the island. The tour of the island, which can be easily covered, allows to appreciate the articulate geomorphologic scenery and all the richness of flora and fauna, throughout the year. The Island, in fact, is from many years the object of didactic excursions of different level (from the elementary school level to the university level) and represents an ideal “gym” for exercising the stimulus to search, a base for the elaboration of data in several cultural fields, an input to the observation, and an acknowledgment of several landscaped elements. As an added value to the itinerary, there are also monumental structures linked to the ancient anthropic presence

Genetic Testing and Counselling in Hypertrophic Cardiomyopathy: Frequently Asked Questions

Genetic counselling and genetic testing in hypertrophic cardiomyopathy (HCM) represent an integral part of the diagnostic algorithm to confirm the diagnosis, distinguish it from phenocopies, and suggest tailored therapeutic intervention strategies. Additionally, they enable cascade genetic testing in the family. With the implementation of Next Generation Sequencing technologies (NGS), the interpretation of genetic data has become more complex. In this regard, cardiologists play a central role, aiding geneticists to correctly evaluate the pathogenicity of the identified genetic alterations. In the ideal setting, geneticists and cardiologists must work side by side to diagnose HCM as well as convey the correct information to patients in response to their many questions and concerns. After a brief overview of the role of genetics in the diagnosis of HCM, we present and discuss the frequently asked questions by HCM patients throughout our 20-year genetic counselling experience. Appropriate communication between the team and the families is key to the goal of delivering the full potential of genetic testing to our patients

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Aortic Dilatation in Pediatric Patients with Bicuspid Aortic Valve: How the Choice of Nomograms May Change Prevalence

Background: Aortic dilation (AoD) is commonly reported in patients with bicuspid aortic valve (BAV) and has been related to flow abnormalities and genetic predisposition. AoD-related complications are reported to be extremely rare in children. Conversely, an overestimate of AoD related to body size may lead to excess diagnoses and negatively impact quality of life and an active lifestyle. In the present study, we compared the diagnosis performance of the newly introduced Q-score (based on a machine-learning algorithm) versus the traditional Z-score in a large consecutive pediatric cohort with BAV. Materials and methods: Prevalence and progression of AoD were evaluated in 281 pediatric patients ages > 5 and 2) in 31.2% of patients with isolated BAV and 18.5% with CoA–BAV at baseline and in 40.7% and 33.3%, respectively, at followup. No significant dilation was found in patients with isolated CoA. Using the new Q-score calculator, ascending aorta dilation was detected in 15.4% of patients with BAV and 18.5% with CoA–BAV at baseline and in 15.8% and 3.7%, respectively, at followup. AoD was significantly related to the presence and degree of aortic stenosis (AS) but not to aortic regurgitation (AR). No AoD-related complications occurred during the followup. Conclusions: Our data confirm the presence of ascending aorta dilation in a consistent subgroup of pediatric patients with isolated BAV, with progression during followup, while AoD was less common when CoA was associated with BAV. A positive correlation was found with the prevalence and degree of AS, but not with AR. Finally, the nomograms used may significantly influence the prevalence of AoD, especially in children, with a possible overestimation by traditional nomograms. This concept requires prospective validation in long-term followup

Circulating programmed death ligand-1 (cPD-L1) in non-smallcell lung cancer (NSCLC)

Background: This study aimed at investigating feasibility of programmed death ligand-1 (PD-L1) testing in plasma samples of advanced NSCLC patients receiving first-line treatment, assessing whether circulating (c)PD-L1 levels were modified by the therapy and whether baseline cPD-L1 levels were associated with patients' clinical responses and survival outcome. Methods: Peripheral blood samples were collected from 16 healthy volunteers and 56 newly diagnosed NSCLC patients before and at 12th week during the course of first-line therapy. The level of PD-L1 was measured in plasma samples using the human (PD-L1/CD274) ELISA kit (CUSABIO, MD, USA). The Mann Whitney test or Fisher's test were used for comparisons. Survival analysis was performed using Kaplan Meyer method, providing median and p-value. Results: Baseline median cPD-L1 was 42.21 pg/ml (range 12.00-143.49) in NSCLC patients and 37.81 pg/ml (range 9.73-90.21) in healthy control cohort (p = 0.78). Median cPD-L1 increased in patients treated with first-line chemotherapy (63.20 pg/ml vs 39.34 pg/ml; p = 0.002), with no changes in patients exposed to nonchemotherapy drugs (42.39 pg/ml vs 50.67 pg/ml; p = 0.398). Time to progression and overall survival were 4.4 vs 6.9 months (p = 0.062) and 8.8 vs 9.3 months (p = 0.216) in cPD-L1 positive vs cPD-L1 negative patients. Baseline cPD-L1 levels increased with the ascending number of metastatic sites, even if the association was not statistically significant (p = 0.063). Conclusions: This study showed that cPD-L1 testing is feasible, with chemotherapy influencing PD-L1 plasma levels. The possibility of using such test for predicting or monitoring the effect of immunotherapy or combination of chemotherapy and immunotherapy warrant further investigations

A knowledge-based approach for the structural assessment of cultural heritage, a case study: La Sapienza Palace in Pisa

The full knowledge of the morphological evolution of an historical masonry building, defined more as ‘structural aggregate’ than as ‘single construction’, together with the analysis of the architectural, structural, geological and geotechnical aspects, allow the assessment of the static safety and seismic vulnerability of the complex and the design of retrofit interventions. In the present paper, a Knowledge-Based-Approach is applied to the historical building ‘Palazzo La Sapienza’ in Pisa, allowing to provide reliable results concerning the actual structural condition of the building avoiding the strong computational effort usually associated to the execution of refined numerical analyses. In case of complex buildings, characterized by a high heterogeneity of materials, structural typologies, geometries and so on, the adoption of a global model is not always useful to represent the effective structural behaviour. The proposed approach shows how a deep multidisciplinary knowledge of the construction can limit the use of cumbersome numerical modelling and analysis, however reaching reliable and accurate results usable also in the current practice

Genetic Testing and Counselling in Hypertrophic Cardiomyopathy: Frequently Asked Questions

Genetic counselling and genetic testing in hypertrophic cardiomyopathy (HCM) represent an integral part of the diagnostic algorithm to confirm the diagnosis, distinguish it from phenocopies, and suggest tailored therapeutic intervention strategies. Additionally, they enable cascade genetic testing in the family. With the implementation of Next Generation Sequencing technologies (NGS), the interpretation of genetic data has become more complex. In this regard, cardiologists play a central role, aiding geneticists to correctly evaluate the pathogenicity of the identified genetic alterations. In the ideal setting, geneticists and cardiologists must work side by side to diagnose HCM as well as convey the correct information to patients in response to their many questions and concerns. After a brief overview of the role of genetics in the diagnosis of HCM, we present and discuss the frequently asked questions by HCM patients throughout our 20-year genetic counselling experience. Appropriate communication between the team and the families is key to the goal of delivering the full potential of genetic testing to our patients

Adherence to AIOM (Italian Association of Medical Oncology) lung cancer guidelines in Italian clinical practice: Results from the RIGHT-3 (research for the identification of the most effective and highly accepted clinical guidelines for cancer treatment) study

Objectives: Clinical practice guidelines represent a key tool to improve quality and reduce variability of cancer care. In 2004, Italian Association of Medical Oncology (AIOM) launched the RIGHT (research for the identification of the most effective and highly accepted clinical guidelines for cancer treatment) program. The third step, RIGHT-3, evaluated the concordance between AIOM lung cancer guidelines and Italian clinical practice. Materials and methods: RIGHT-3 was a retrospective observational study, conducted in 53 Italian centers treating lung cancer. Sampling from AIOM database of 230 centers was stratified by presence of thoracic surgery and geographic distribution. To describe the adherence to AIOM guidelines (2009 edition), 11 indicators regarding diagnostic and treatment procedures were identified. Patients with non-small-cell lung cancer (NSCLC) diagnosis who had first visit in 2010 were divided into 3 groups, based on TNM stage: I-II-IIIA (5 indicators), IIIB (3 indicators) and IV (3 indicators). Results: 708 patients were enrolled; 680 were eligible: 225 patients in stage I-II-IIIA; 156 patients in stage IIIB; 299 patients in stage IV. Cyto-histological diagnosis was available in 96%, 97%, 96% of stage I-II-IIIA, IIIB, IV respectively. Positron-emission tomography was performed in 64% of stage I-II-IIIA and 46% of stage IIIB. 88% of stage I-II patients eligible for surgery underwent lobectomy; after surgery, 61% of stage II and 57% of stage IIIA patients received adjuvant chemotherapy. Among stage IIIB patients who received combined chemo- radiotherapy, sequential approach was more common than concomitant treatment (86% vs. 14%). Among stage IV patients, 87% received platinum-based first-line treatment, and 70% received second-line. Conclusion: The RIGHT-3 study showed that, in 2010, adherence to Italian NSCLC guidelines was high for many indicators (including those related to treatment of stage IV patients), but lower for some diagnostic procedures. Guidelines adherence monitoring can be useful to reduce variability in cancer care

High resolution scintimammography helps in differentiating benign from malignant findings in scintigraphic hot spots

Several efforts have been focusing on the development of detectors devoted to high resolution 99mTc sestamibi scintimammography to improve sensitivity for non palpable lesions. To this aim new high resolution scintillation gamma camera was developed under the "Integrated Mammographic Imaging" project. The gamma camera, made by CAEN and Pol.Hi.Tech, has an overall dimension of 112x120x75mm3. It consists of an array of 1 in. PSPMTs Hamamatsu H8520-C12 closely packed, a Nal(Tl) scintillation array (1.8x1.8x6mm3 pixel) and a general purpose collimator. By this gamma camera a clinical experience on a few patients with breast cancer suspicion was performed. In this paper we show how high resolution approach allows to better categorize the lesions on the basis of the morphology of the spatial distribution of the radiotracer in the breast tissue. By comparing conventional and high resolution images of a young patient (29 y.o.) with breast cancer suspicion, it appears clear how the Anger camera images showed a defined hot spot, highly suggestive of malignant lesion; on the contrary, the high resolution scan shown a large and inhomogeneous uptake area with the absence of clear and focal character of the uptake, to be considered as a probably non malignant lesion. This result was confirmed by byoptical findings that diagnosed the echographic findings as a benign inflammatory lesion