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An increasing body of evidence supports the concept of genetic heterogeneity within inflammatory bowel disease (IBD). In this study, a polymorphism of the motilin gene, which determines an amino acid substitution in the motilin protein, has been investigated in IBD patients. Fifty patients with ulcerative colitis (UC), and 52 with Crohn's disease (CD) were investigated for anti-neutrophil cytoplasmatic antibodies (ANCA) and the polymorphism in the second exon of the motilin gene. Sixty unrelated blood donors served as controls. ANCA were found in 30% of UC and 13% of CD. In controls the DNA polymorphism identified two alleles (1 and 2) at a frequency of 42% and 58%, respectively. Patients with either UC or CD showed a slight increase in the frequency of allele 2 (69% and 60%, respectively; P > 0.05 vs controls). This allele was predominant in ANCA-positive CD patients (86%; P < 0.04) while in UC it did not differ. All ANCA-positive CD patients had the disease confined to the colon. A polymorphism of second exon of the motilin gene, leading to a protein variant, is significantly more frequent in the subset of ANCA-positive CD patients. This subgroup of patients appears to share peculiar genetic and clinical features. [ABSTRACT FROM AUTHOR]

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Taranto è una tra le aree a più alto rischio ambientale, per i numerosi impianti siderurgici presenti. Su questa base, abbiamo effettuato un programma di monitoraggio biologico sulla popolazione residente, non esposta per motivi occupazionali a metalli pesanti. In particolare, sono stati presi in considerazione l'Arsenico inorganico e i suoi metaboliti metilati (iAs+MMA+DMA), il Cromo (Cr), il Manganese (Mn), il Mercurio (Hg) e il Piombo (Pb) a causa delle caratteristiche ubiquitarie di questi metalli, ampiamente diffusi in natura, e dei loro potenziali effetti cancerogeni. Abbiamo misurato iAs+MMA+DMA, Cr, Hg, Pb, Mn in 142 campioni di urine di soggetti che vivono nell'area tarantina. Abbiamo anche somministrato un questionario, al fine di indagare l'influenza di fattori professionali e non professionali sull'escrezione urinaria di questi metalli. I valori medi di escrezione urinaria di Pb e Cr sono al di sopra dei valori di riferimento osservati dall'Associazione Italiana per i Valori di Riferimento nella popolazione generale non esposta professionalmente ai metalli (SIVR). [ABSTRACT FROM AUTHOR]

Background: Cystinuria is a heritable disorder of amino acid transport characterized by the defective transport of cystine and the dibasic amino acids through the brush border epithelial cells of the renal tubule and intestine tract. Three types of cystinuria (I, II, and III) have been described based on the urinary excretion of cystine and dibasic amino acids in obligate heterozygotes. The SLC3A1 gene coding for an amino acid transporter named rBAT is responsible for type I cystinuria, whereas the SLC7A9 gene coding for a subunit (b0,+AT) of rBAT is involved in determining non-type I (types II and III) cystinuria.Methods: The SLC3A1 gene sequence was investigated in a sample of seven type I/type I, three type I/non-type I, six type I/untyped, and four untyped unrelated cystinuric patients by RNA single-strand conformation polymorphism (RNA-SSCP).Results: Eight new point mutations (S168X, 765+1G>T, 766-2A>G, R452Q, Y461X, S547W, L564F, and C673W) and seven previously reported mutations were detected. These new mutations increase the number of mutated alleles so far characterized in SLC3A1 to 62.Conclusions: We have found SLC3A1 mutations in 0.739 of the type I chromosomes studied. The relatively high proportion of uncharacterized type I chromosomes suggests either that there may be mutations not yet found in SLC3A1 or that many of the assigned type I chromosomes in mixed type I/non-type I patients may have mutations in SLC7A9. If the hypothesis is excluded in the future, we believe that a third gene may be involved in cystinuria. [ABSTRACT FROM AUTHOR]

This study aimed to investigate the impact of previous SARS-CoV-2 infection and the role of vaccination in the onset of neuropsychiatric conditions, evaluated through antidepressant prescriptions. This case-control study evaluated the risk of new antidepressant prescriptions in relation to previous exposure to SARS-CoV-2 infection and vaccination. It was conducted in three Italian Regions on adults who did not receive antidepressant prescriptions in the year preceding the study period. Individuals with newly prescribed antidepressants (cases) were matched by sex and age to non-users of antidepressants (controls). Pooled estimates of regional Odds Ratios (ORs) were obtained through a meta-analysis. Findings showed that individuals previously infected with SARS-CoV-2 had a higher risk of receiving a new prescription of antidepressants. Moreover, this association was stronger among subjects hospitalized due to infection, and SARS-CoV-2 vaccination may have acted as an effect modifier by reducing that risk. In fact, the pooled OR for receiving a new antidepressant prescription was higher for unvaccinated individuals than for those vaccinated. The results of this study confirm the role of SARS-CoV-2 infection as a risk factor for the onset of neuropsychiatric symptoms. Antidepressant treatment initiation was much more likely after severe COVID-19 infection but vaccination reduced such a risk., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)

Background: Heart failure (HF), affecting 1-4% of adults in industrialized countries, is a major public health priority. Several algorithms based on administrative health data (HAD) have been developed to detect patients with HF in a timely and inexpensive manner, in order to perform real-world studies at the population level. However, their reported diagnostic accuracy is highly variable., Objective: To assess the diagnostic accuracy of validated HAD-based algorithms for detecting HF, compared to clinical diagnosis, and to investigate causes of heterogeneity., Methods: We included all diagnostic accuracy studies that utilized HAD for the diagnosis of congestive HF in the general adult population, using clinical examination or chart review as the reference standard. A systematic search of MEDLINE (1946-2023) and Embase (1947-2023) was conducted, without restrictions. The QUADAS-2 tool was employed to assess the risk of bias and concerns regarding applicability. Due to low-quality issues of the primary studies, associated with both the index test and the reference standard definition and conduct, and to the high level of clinical heterogeneity, a quantitative synthesis was not performed. Measures of diagnostic accuracy of the included algorithms were summarized narratively and presented graphically, by population subgroups., Results: We included 24 studies (161,524 patients) and extracted 36 algorithms. Algorithm selection was based on type of administrative data and DOR. Six studies (103,018 patients, 14 algorithms) were performed in the general outpatient population, with sensitivities ranging from 24.8 to 97.3% and specificities ranging from 35.6 to 99.5%. Eight studies (14,957 patients, 10 algorithms) included hospitalized patients with sensitivities ranging from 29.0 to 96.0% and specificities ranging from 65.8 to 99.2%. The remaining studies included subgroups of the general population or hospitalized patients with cardiologic conditions and were analyzed separately. Fourteen studies had one or more domains at high risk of bias, and there were concerns regarding applicability in 9 studies., Discussion: The considerable percentage of studies with a high risk of bias, together with the high clinical heterogeneity among different studies, did not allow to generate a pooled estimate of diagnostic accuracy for HAD-based algorithms to be used in an unselected general adult population., Systematic Review Registration: PROSPERO CRD42023487565., Competing Interests: Declarations. Ethics approval and consent to participate: The study concerns literature-based studies. Therefore, ethical approval and informed consent were not required. Consent for publication: Not applicable. Competing interests: The authors declare that they have no competing interests., (© 2024. The Author(s).)

Green spaces have been shown to be beneficial to humans, but quantifying these benefits is a challenge for epidemiology. In this health impact assessment study, we exploit satellites to estimate for the whole of Italy the number of deaths that could be prevented in the 49 million adult population by greening residential areas. The exposure was assessed by calculating the normalized difference vegetation index at 10-m resolution within a 300-m distance from homes in 7904 municipalities. In this study we estimate, by achieving nationwide the level of residential greenness currently reached by the 25% of the population, a total of 28,433 (95% confidence interval: 21,400-42,350) preventable deaths and 279,324 (210,247-415,980) preventable years of life lost in Italy in 2022, representing the 5% of the total mortality burden. More green means fewer deaths, thus strong action is needed to increase the amount and accessibility of green spaces in all human settlements., Competing Interests: Competing interests: The authors declare no competing interests., (© 2024. The Author(s).)

Malignant pleural mesothelioma (MPM) is an aggressive cancer with a poor prognosis and the identification of novel druggable targets is urgently needed. In previous work, we identified 15 deregulated genes highly expressed in MPM tissues and correlated with a poor prognosis. Here, we validated these findings on an independent dataset of 211 MPM patients (EGA, EGAD00001001915) and on a panel of MPM cell lines. Furthermore, we carried out in vitro gene silencing followed by proliferation, cytotoxicity, caspase, and migration assays to define whether these targets could be cancer-driver genes. We ended up with three novel candidates (i.e., BAG2, MAD2L1, and MDK), whose encoded proteins could be exploited as druggable targets. Moreover, of novelty, immunohistochemistry analysis on tissues revealed that the overexpression of BAG2 and MAD2L1 could differentiate MPM from RMP patients. Furthermore, when we tested Neratinib (an inhibitor of MAD2L1) and iMDK (an inhibitor of MDK) we found that they are effective on MPM cells, in part phenocopying the effects of MAD2L1 and MDK gene silencing. In summary, in the present work, we report that BAG2, MAD2L1, and MDK are bona fide cancer-driver genes for MPM worth of further studies., Competing Interests: Competing interests The authors declare no competing interests. Ethics approval and consent to participate The collection and analysis of human tissue samples were conducted in accordance with the Declaration of Helsinki and with approvals by the Ethical Committee of the Capital Region of Denmark (Protocol No. H32011135-57379) and the Danish Data Protection Agency (Protocol No. DT2016414917), as previously described [15]. Additionally, the Danish Registry for Use of Tissue was checked to ensure that patients included in the study had not refused the usage of their tissue samples for research purposes., (© 2024. The Author(s).)

The Italian Association of Epidemiology's experience during the COVID-19 pandemic and its collaboration on a national project focused on contact tracing have prompted significant insights essential for the management of future pandemics in Italy and the development of new pandemic plans. In particular, the Italian Association of Epidemiology highlighted the need to collect, analyse and interpret data, and produce indicators of effectiveness and efficiency in a consistent manner across the country to support the governance of the pandemic response. During the COVID-19 pandemic in Italy, this capacity was severely hampered by structural and regulatory factors and the limited availability of specific expertise. The lack of applications developed for contact tracing purposes and the absence of interoperability between existing information systems highlighted the need to invest in integration among ICT, Epidemiology, and Public Health Services. The absence of predefined indicators made it impossible to compare different organisational solutions for contact tracing. From the regulatory point of view, there is an urgent need for clarification of the legitimacy and legal basis of the use of data already available to the National Health System collected for different purposes to be used for the performance of proactive medicine and prevention activities. Finally, investment in training for health workers and decision-makers at all levels and community awareness raising are essential to building a resilient community. The Italian National Pandemic Plan 2024-2028 is an opportunity to prepare an effective and efficient response to future health emergencies, through coordinated plans and the valorisation of the pandemic experience.

Background: the long-COVID condition is gaining increasing relevance in terms of public health, but few studies have evaluated its impact on use of healthcare resources and the organizational responses of healthcare systems. Although many studies have evaluated case studies of individuals with long-COVID, the clinical spectrum of symptoms is still poorly defined due to the heterogeneity of the populations studied, the variability of the definitions used, and the absence of disease markers. In this context, in 2022, a project was designed and implemented in cooperation between the National Centre for Prevention and Control of the Italian Ministry of Health and the Italian National Health Institute (Istituto Superiore di Sanità, ISS)., Objectives and Methods: this project was articulated into five main objectives: 1. definition of the health care dimensions of the long-COVID phenomenon. This objective included an analysis of regional data flows to measure use of hospitalization services (acute, rehabilitation, long-term care), resource consumption (specialist visits and drug consumption), and the rate of institutionalization in patients with a history of COVID-19; 2. definition of number, characteristics, and distribution of long-COVID centres across the national territory. This objective has been implemented through a national survey of long-COVID diagnosis and assistance centres; 3. definition of clinical good practices about the management of long-COVID condition by a multidisciplinary group of experts; 4. definition of a long-COVID surveillance system; including the definition of a specific data set of information and the identification of a sample of clinical centres that deal with the care of subjects with long-term effects of COVID-19 and the setup of a dedicated online platform; a phone survey based on more than 1,000 interviews assessed the spectrum of symptoms reported; 5. structuring a national network and providing information, which included networking of the centres participating in the study with the dissemination of periodic information and update workshops or webinars; the creation of a website dedicated to the long-COVID condition, with general information for citizens and a section dedicated to the project; training activities., Results: Objective 1: a cohort study of over 600,000 individuals showed that people exposed to SARS-CoV-2 infection, particularly those who were hospitalized, appear to use more healthcare resources in the 6 months following infection than those who were not exposed. Individuals hospitalized in intensive care showed rates of outpatient visits 3 times higher than those who were not exposed and over 4 times higher rates for diagnostic imaging tests and hospitalizations. The case-control study found an increased risk of initiating antidepressant therapy among individuals exposed to SARS-CoV-2 infection compared to those who were not exposed, particularly among those who were hospitalized during acute infection. Furthermore, COVID-19 vaccination may play a protective role in this context. Objective 2: 124 clinical centres completed the questionnaire developed to define the patterns of clinical care for patients with long-COVID. Most centres provided care through outpatient visits or day hospital services with scheduled visits or referral to primary care and had specialist skills that allowed a multidisciplinary approach to the subject with suspected long-COVID condition. Objective 3: a multidisciplinary team, representative of the multi-systemic nature of long-COVID, with the participation of 16 experts, developed recommendations for the management of patients with long-COVID, based on current knowledge on the topic, with the aim of contributing to standardizing the activities of clinical centres throughout Italy. Objective 4: the clinical surveillance system has allowed the collection of data from over 1,200 patients from 30 clinical centres for the definition of symptom, their aggregation in clusters, and associated factors. Information on symptom profile was also assessed through a phone survey of more than 1,000 participants. Objective 5: the ISS website on long COVID provided information on the long-COVID condition and illustrated the CCM project, with links to webinars and workshops. In addition, a FAD course - entitled 'long-COVID: a new clinical scenario' - was implemented on the EDU-ISS platform, with over 14,000 participants., Conclusions: the results of this study show that long-COVID is a frequent condition in our country, which, due to the amplitude of numbers and the spectrum of symptoms, has a substantial impact on resource consumption. This demonstrates that it will be necessary to implement, guarantee and monitor well-defined care standards for this condition.

Introduction: Studies have analyzed the effects of industrial installations on the environment and human health in Taranto, Southern Italy. Literature documented associations between different variables and dementia mortality among both women and men. The present study aims to investigate the associations between sex, environment, age, disease duration, pandemic years, anti-dementia drugs, and death rate., Methods: Data from the regional medication registry were used. All women and men with an anti-dementia medication between 2015 and 2021 were included and followed-up to 2021. Bayesian mixed effects logistic and Cox regression models with time varying exposures were fitted using integrated nested Laplace approximations and adjusting for patients and therapy characteristics., Results: A total of 7,961 person-years were observed. Variables associated with lower prevalence of acetylcholinesterase inhibitors (AChEIs) medication were male sex (OR 0.63, 95% CrI 0.42-0.96), age 70-79 years (OR 0.17, 95% CrI 0.06-0.47) and ≥ 80 years (OR 0.08, 95% CrI 0.03-0.23), disease duration of 2-3 years (OR 0.43, 95% CrI 0.32-0.56) and 4-6 years (OR 0.21, 95% CrI 0.13-0.33), and pandemic years 2020 (OR 0.50, 95% CrI 0.37-0.67) and 2021 (OR 0.47, 95% CrI 0.33-0.65). Variables associated with higher mortality were male sex (HR 2.14, 95% CrI 1.75-2.62), residence in the contaminated site of national interest (SIN) (HR 1.25, 95% CrI 1.02-1.53), age ≥ 80 years (HR 6.06, 95% CrI 1.94-18.95), disease duration of 1 year (HR 1.50, 95% CrI 1.12-2.01), 2-3 years (HR 1.90, 95% CrI 1.45-2.48) and 4-6 years (HR 2.21, 95% CrI 1.60-3.07), and pandemic years 2020 (HR 1.38, 95% CrI 1.06-1.80) and 2021 (HR 1.56, 95% CrI 1.21-2.02). Variables associated with lower mortality were therapy with AChEIs alone (HR 0.69, 95% CrI 0.56-0.86) and in combination with memantine (HR 0.54, 95% CrI 0.37-0.81)., Discussion: Male sex, age, disease duration, and pandemic years appeared to be associated with lower AChEIs medications. Male sex, residence in the SIN of Taranto, age, disease duration, and pandemic years seemed to be associated with an increased death rate, while AChEIs medication seemed to be associated with improved survival rate., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision., (Copyright © 2024 Mincuzzi, Lodeserto, Zollino, Sardone, Bisceglia, Addabbo, Minerba, Colacicco and Giannico.)