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Introduction: High repeat expansion (HRE) alleles in C9orf72 have been linked to both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD); ranges for intermediate allelic expansions have not been defined yet, and clinical interpretation of molecular data lacks a defined genotype-phenotype association. In this study, we provide results from a large multicenter epidemiological study reporting the distribution of C9orf72 repeats in healthy elderly from the Italian population. Methods: A total of 967 samples were collected from neurologically evaluated healthy individuals over 70 years of age in the 13 institutes participating in the RIN (IRCCS Network of Neuroscience and Neurorehabilitation) based in Italy. All samples were genotyped using the AmplideXPCR/CE C9orf72 Kit (Asuragen, Inc.), using standardized protocols that have been validated through blind proficiency testing. Results: All samples carried hexanucleotide G4C2 expansion alleles in the normal range. All samples were characterized by alleles with less than 25 repeats. In particular, 93.7% of samples showed a number of repeats =10, 99.9% =20 repeats, and 100% =25 repeats. Conclusion: This study describes the distribution of hexanucleotide G4C2 expansion alleles in an Italian healthy population, providing a definition of alleles associated with the neurological healthy phenotype. Moreover, this study provides an effective model of federation between institutes, highlighting the importance of sharing genomic data and standardizing analysis techniques, promoting translational research. Data derived from the study may improve genetic counseling and future studies on ALS/FTD. [ABSTRACT FROM AUTHOR]

Current approach to identify BRCA 1/2 carriers in the general population is ineffective as most of the carriers remain undiagnosed. Radiomics is an emerging tool for large scale quantitative analysis of features from standard diagnostic imaging and has been applied also to identify gene mutational status. The objective of this study was to evaluate the clinical and economic impact of integrating a radiogenomics model with clinical and family history data in identifying BRCA mutation carriers in the general population. This cost-effective analysis compares three different approaches to women selection for BRCA testing: established clinical criteria/family history (model 1); established clinical criteria/family history and the currently available radiogenomic model (49% sensitivity and 87% specificity) based on ultrasound images (model 2); same approach used in model 2 but simulating an improvement of the performances of the radiogenomic model (80% sensitivity and 95% specificity) (model 3). All models were trained with literature data. Direct costs were calculated according to the rates currently used in Italy. The analysis was performed simulating different scenarios on the generation of 18-year-old girls in Italy (274,000 people). The main outcome was to identify the most effective model comparing the number of years of BRCA-cancer healthy life expectancy (HLYs). An incremental cost-effectiveness ratio (ICER) was also derived to determine the cost in order to increase BRCA carriers-healthy life span by 1 year. Compared to model 1, model 2 increases the detection rate of BRCA carriers by 41.8%, reduces the rate of BRCA-related cancers by 23.7%, generating over a 62-year observation period a cost increase by 2.51 €/Year/Person. Moreover, model 3 further increases BRCA carriers detection (+ 68.3%) and decrease in BRCA-related cancers (− 38.4%) is observed compared to model 1. Model 3 increases costs by 0.7 €/Year/Person. After one generation, the estimated ICER in the general population amounts to about 3800€ and 653€ in model 2 and model 3 respectively. Model 2 has a massive effect after only one generation in detecting carriers in the general population with only a small cost increment. The clinical impact is limited mainly due to the current low acceptance rate of risk-reducing surgeries. Further multicentric studies are required before implementing the integrated clinical-radiogenomic model in clinical practice. [ABSTRACT FROM AUTHOR]

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The goal of the research is to propose an optimization-based methodology for the evaluation of retrofit incentives, using as a benchmark the wide data collection reported by the ENEA Italian Agency since 2007. To determine the best mix of energy retrofit measures for different areas of Italy, two Linear Programming models are proposed. The first model maximizes energy savings and the second one minimizes retrofit costs. The results show a 17% reduction in the average cost for each MW h of saved energy. More importantly, the methodology can help decision-makers appreciate how energy efficiency incentives have been used so far and how effective they could be. Furthermore, the methodology can be used for setting future incentive distribution plans. [ABSTRACT FROM AUTHOR]

Purpose: The aim of this paper is to survey among Italian radiation oncologists about the role of nutritional supplementation and an early placement of endoscopic percutaneous gastrostomy in head and neck cancer patients treated with radiotherapy or chemo-radiotherapy.Methods: The survey was carried out in 106 Italian centers of radiation oncology through a SurveyMonkey online interface questionnaire.Results: The response rate to the survey was of 63%, with 67 analyzable questionnaires. The majority of the respondents do not use preventive nutritional supplement. In 73.1% of the cases, percutaneous endoscopic gastrostomy (PEG) is positioned only in case of necessity. The 82.1% of the interviewed physicians, indeed, argued that the preventive placement of the endoscopic percutaneous gastrostomy should not be a standard procedure. Nutritional counseling before starting a treatment is not a routine, but 88.1% of the respondents stated that this should represent a standard procedure.Conclusions: Although some studies agree that a reactive approach should be preferred to an early endoscopic percutaneous gastrostomy placement, firm evidences and a clear consensus are still lacking. This survey shows a wide agreement about both timing and criteria for endoscopic percutaneous gastrostomy placement; however, the management of nutritional supplementation in head and neck cancer patients appears to be still widely variable and to deserve more focused studies. [ABSTRACT FROM AUTHOR]

Background: COVID-19 in Italy has led to the need to reorganize hospital protocols with a significant risk of interruption to cancer treatment programs. In this report, we will focus on a management model covering the two phases of the COVID-19 emergency, namely lockdown-phase I and post-lockdown-phase II.Methods: The following steps were taken in the two phases: workload during visits and radiotherapy planning, use of dedicated routes, measures for triage areas, management of suspected and positive COVID-19 cases, personal protective equipment, hospital environments and intra-institutional meetings and tumor board management. Due to the guidelines set out by the Ministry of Health, oncological follow-up visits were interrupted during the lockdown-phase I; consequently, we set about contacting patients by telephone, with laboratory and instrumental exams being viewed via telematics. During the post-lockdown-phase II, the oncological follow-up clinic reopened, with two shifts operating daily.Results: By comparing our radiotherapy activity from March 9 to May 4 2019 with the same period in 2020 during full phase I of the COVID-19 emergency, similar results were achieved. First radiotherapy visits, Simulation Computed Tomography and Linear Accelerator treatments amounted to 123, 137 and 151 in 2019 compared with 121, 135 and 170 in 2020 respectively. There were no cases of COVID-19 positivity recorded either in patients or in healthcare professionals, who were all negative to the swab tests performed.Conclusion: During both phases of the COVID-19 emergency, the planned model used in our own experience guaranteed both continuity in radiotherapy treatments whilst neither reducing workload nor interrupting treatment and, as such, it ensured the safety of cancer patients, hospital environments and staff. [ABSTRACT FROM AUTHOR]

Study Objectives: The aim was to describe sleep habits and epidemiology of the most common sleep disorders in Italian children and adolescents., Methods: This was a cross-sectional study in which parents of typically developing children and adolescents (1-18 years) completed an online survey available in Italy, gathering retrospective information focusing on sleep habits and disorders., Results: Respondents were 4,321 typically developing individuals (48.6% females). Most of our sample did not meet the age-specific National Sleep Foundation recommendations for total sleep duration (31.9% of toddlers, 71.5% of preschoolers, 61.6% of school-age children, and 41.3% of adolescents). Napping was described in 92.6% of toddlers and in 35.2% of preschoolers. Regarding geographical differences, children and adolescents of northern Italy showed more frequent earlier bedtimes and rise times than their peers of central and southern Italy. The most frequently reported sleep disorder in our sample was restless sleep (35.6%), followed by difficulties falling asleep (16.8%), > 2 night awakenings (9.9%), and bruxism (9.6%). Data also suggest that longer screen time is associated with later bedtimes on weekdays in all age groups., Conclusions: The current study shows that Italian children are at risk of sleep disorders, particularly insufficient sleep, restless sleep, and difficulty falling asleep. The study also provides normative sleep data by age group in a large cohort of typically developing Italian children, emphasizing the importance of the developmentally, ecologically, and culturally based evaluation of sleep habits and disorders., Citation: Breda M, Belli A, Esposito D, et al. Sleep habits and sleep disorders in Italian children and adolescents: a cross-sectional survey. J Clin Sleep Med . 2023;19(4):659-672., (© 2023 American Academy of Sleep Medicine.)

Objectives: to set out a method based on the Reed Frost model to delimit over time COVID-19 epidemic waves in Italy., Design: the available national epidemic reports published by the Protezione Civile (Italian civil defence) from 24.02.2020 to 16.022022 were used to collect data on COVID-19 epidemic in Italy. Then, the Reed-Frost model was applied to develop a methodology based on the calculation of the effective contact probability, i.e., the probability of contact., Setting and Participants: in Italy, a daily report related to the epidemic was immediately available, including main epidemiological data (point and periodic infection prevalence, mortality, etc), which made it possible for researchers from different institutions to perform analyses about the epidemic., Results: an iterative methodology was developed resulting in the identification of the start-of-wave, end-of-wave, and inter-wave periods and of the starting and ending days of the COVID-19 epidemic waves in Italy (first wave: from 26±2 February 2020 to 28±2 June 2020)., Conclusions: this study led to the development of an accessible and reproducible method to determine the start-of-wave and end-of-wave dates of an epidemic, starting only from the number of cases and susceptible people. The main implications of the method mainly consist in allowing benchmarking and forecasting analyses of the epidemic trend to be carried out to support policy and decision-making processes.

Colorectal cancer (RC) is the third most common cancer, with an increasing incidence in recent years. Digital health solutions supporting multidisciplinary tumor boards (MTBs) could improve positive outcomes for RC patients. This paper describes the implementation process of a digital solution within the RC-MTB and its impact analysis in the context of the Fondazione Policlinico 'A. Gemelli' in Italy. Adopting a two-phase methodological approach, the first phase qualitatively describes each phase of the implementation of the IT platform, while the second phase quantitatively describes the analysis of the impact of the IT platform. Descriptive and inferential analyses were performed for all variables, with a p -value < 0.05 being considered statistically significant. The implementation of the platform allowed more healthcare professionals to attend meetings and resulted in a decrease in patients sent to the RC-MTB for re-staging and further diagnostic investigations and an increase in patients sent to the RC-MTB for treatment strategies. The results could be attributed to the facilitated access to the platform remotely for specialists, partly compensating for the restrictions imposed by the COVID-19 pandemic, as well as to the integration of the platform into the hospital's IT system. Furthermore, the early involvement of healthcare professionals in the process of customizing the platform to the specific needs of the RC-MTB may have facilitated its use and contributed to the encouraging quantitative results.

Italy was the first country in the western world to be affected by the COVID-19 pandemic, arguably among the worst-affected ones, counting 12 million cases and 150 thousand deaths two years since the first case. Facing new challenges, Italy has enacted different strategies and policies to limit the spread of the SARS-CoV-2 virus and treat those affected by COVID-19. This narrative review provided an overview of factors, measures, and actions that shaped Italy's first two years of the COVID-19 pandemic by investigating epidemiological data and using a mixed-method approach. This narrative review aimed to summarize the most relevant aspects and measures and analyze available data to provide policymakers and healthcare providers with the instruments to learn from this pandemic and improve their preparedness for future pandemic events. The first two years of the pandemic differ in that, during the first year, significant necessary changes to the way health systems were organized were implemented, increasing healthcare spending and adopting social and physical distancing measures that were stricter than the ones adopted in the second year. However, as the pandemic progressed, increased knowledge of the virus and related variants, as well as the introduction of highly effective vaccines, which were not equally available to the whole population, resulted in a stratification of COVID-19 infections and deaths based on factors such as age, vaccination status, and individual susceptibility to the virus.

Background: This work aims to identify policies implemented for healthy food environments in Italy within The Healthy Food Environment Policy Index (Food-EPI) project., Methods: Food-EPI tool, which includes two components, thirteen domains and fifty good practice indicators, was adapted for the Italian context. Evidence for implementation was gathered and summarized for all fifty indicators from data sources such as governmental websites, non-government organizations publications and websites and via direct contact with Government officials., Results: The highest level of evidence was found within five domains: food composition (2/2 indicators), labelling (3/4), promotion (4/5), provision (4/5) and leadership (5/5). The domains with less identified evidence were food prices (1/4), food in retail (0/4), trade and investment (0/2) and platforms and interaction (1/4)., Conclusions: The evidence summarization and the upcoming stakeholders' meeting to rate the level of implementation for each indicator in Italy have the potential to improve Government commitment to shape healthier food environments.

As the COVID-19 outbreak traveled through various Italian regions, all national and local administrations issued measures to counter the spread of the contagion and organize healthcare. The Italian healthcare system is, indeed, a decentralized system with 21 regional health systems (RHSs), with different models of healthcare service delivery and organization. This study investigates whether a different organization of RHSs would have led to different management of the COVID-19 epidemic, and evaluates the effect of different approaches in epidemic management on the COVID-19 epidemiological trend. A set of indicators is identified by conducting an online synchronous Focus Group, involving an experts panel. A Pearson's correlation test was performed on the values assumed by the historical series of indicators investigate correlations among the trends represented by the indicators or between them and external factors. The comparison between the experiences of the different Italian regions, regarding the management of the epidemic, has helped to confirm and emphasize the importance of a community-based approach in health care-integrated with the hospital's functions for the care of complex conditions and the need for specialized assistance.