RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily.

Background and Objectives. Retinitis pigmentosa (RP) is the most common inherited rod-cone dystrophy (RCD), resulting in nyctalopia, progressive visual field, and visual acuity decay in the late stages. The autosomal dominant form (ADRP) accounts for about 20% of RPs. Among the over 30 genes found to date related to ADRP, RP1 pathogenic variants have been identified in 5-10% of cases. In a cohort of RCD patients from the Palermo province on the island of Sicily, we identified a prevalent nonsense variant in RP1, which was associated with ADRP. The objective of our study was to analyse the clinical and molecular data of this patient cohort and to evaluate the potential presence of a founder effect. Materials and Methods. From 2005 to January 2023, 84 probands originating from Western Sicily (Italy) with a diagnosis of RCD or RP and their relatives underwent deep phenotyping, which was performed in various Italian clinical institutions. Molecular characterisation of patients and familial segregation of pathogenic variants were carried out in different laboratories using Sanger and/or next-generation sequencing (NGS). Results. Among 84 probands with RCD/RP, we found 28 heterozygotes for the RP1 variant c.2219C>G, p.Ser740* ((NM_006269.2)*, which was therefore significantly prevalent in this patient cohort. After a careful interview process, we ascertained that some of these patients shared the same pedigree. Therefore, we were ultimately able to define 20 independent family groups with no traceable consanguinity. Lastly, analysis of clinical data showed, in our patients, that the p.Ser740* nonsense variant was often associated with a late-onset and relatively mild phenotype. Conclusions. The high prevalence of the p.Ser740* variant in ADRP patients from Western Sicily suggests the presence of a founder effect, which has useful implications for the molecular diagnosis of RCD in patients coming from this Italian region. This variant can be primarily searched for in RP-affected subjects displaying compatible modes of transmission and phenotypes, with an advantage in terms of the required costs and time for analysis. Moreover, given its high prevalence, the RP1 p.Ser740* variant could represent a potential candidate for the development of therapeutic strategies based on gene editing or translational read-through therapy for suppression of nonsense variants.

[Temporal analysis of the prevalence of congenital hypospadias in the municipality of Gela]. / Analisi temporale della prevalenza di ipospadia congenita nel comune di Gela.

OBJECTIVES: to evaluate the risk profile of hypospadias in Gela, an Italian National Priority Contaminated Site (NPCS) located in Sicily Region (Southern Italy), characterized by a significant excess of hypospadias in newborn residents compared to data from reference on regional, national, and international basis and, until 2014, by the presence of a petrochemical plant. DESIGN: geographical analyses were conducted by comparing the prevalence of the Gela municipality to prevalence found in Sicily, in a territorial area bordering Gela (ALG), and in the NPCSs of Milazzo and Priolo. The geographical comparisons were conducted for the period 2010-2020, the trend within the Gela NPCS was evaluated by comparing two subperiods (2010-2014 and 2015-2020). SETTING AND PARTICIPANTS: children up to 1 year of age with hypospadias resident in the municipality of Gela in the period 2010-2020. MAIN OUTCOMES MEASURES: crude odds ratios (OR) and respective 95% confidence intervals (95%CI) were used to compare the prevalence observed in Gela and that detected in the comparison areas. RESULTS: excess risk for hypospadias was highlighted in 2010-2020 in Gela vs Sicily (OR 4.45; 95%CI 3.45-5.75), vs ALG (OR 4.29; 95%CI 3.02-6.10), and vs the NPCSs of Milazzo (OR 2.32; 95%CI 1.32-4.07) and Priolo (OR 2.37; 95%CI 1.55-3.62). The between-period comparisons in Gela did not show an important difference between 2010-2014 and 2015-2020 (OR 1.37; 95%CI 0.83-2.24), with a prevalence of 98.9 and 72.4 per 10,000, respectively. CONCLUSIONS: the prevalence of hypospadias in 2015-2020 remains very high, although decreasing when compared to 2010-2014 period. The Gela data, despite the refinery being closed after 2014, suggest a complex situation in which multiple risk factors may play a role.

SARS-CoV-2 molecular surveillance of migrant populations arriving to Italy via the Mediterranean Sea: lessons learnt.

Refugees and migrants remain one of the most vulnerable people and the COVID-19 pandemic has posed additional challenges both in terms of increased risk of infection and death experienced, highlighting existing inequities in access to and utilization of health services, as underlined by World Health Organization in 2020 in the Health and Migration Programme. In the context of the Programme 'Epidemiological surveillance and control of COVID-19 in metropolitan urban areas and for the containment of the circulation of SARS-CoV-2 in the migrant population in Italy', coordinated by the Italian Centre for Disease Control and Prevention (CCM) and funded by the Italian Ministry of Health, an experimental epidemiological, virological, and molecular SARS-CoV-2 surveillance system addressed to migrant populations in Sicily through Mediterranean routes was implemented. To this end, a multidisciplinary network supported by a hub&spoke system of laboratories was established in Sicily Region (Southern Italy), using molecular and Next Generation Sequencing (NGS) techniques to identify different SARS-CoV-2 strains in relation to migration flows. Herein, the lesson learnt through this integrated surveillance model, that was in place from February 2021 till the end of the COVID-19 emergency in Italy, are reported. Overall, the data emphasized the need for enhancing molecular surveillance in the areas of the globe where testing and sequencing resources are limited. The epidemiological, virological, and molecular SARS-CoV-2 monitoring, targeted to the migrant population, may also provide a valuable experimental model.

[The COVID-19 pandemic on immigrants: a national project for the impact assessment of the disease and effective interventions to reduce the spread and promote health]. / COVID-19 negli immigrati: un progetto nazionale per la valutazione d'impatto della malattia e di interventi efficaci per il contrasto alla diffusione e per la promozione della salute.

Within the prevention programmes of the Italian Ministry of Health, a project aimed to containing the circulation of SARS-CoV-2 virus in the immigrant population in Italy has entrusted to the Regional Health Authority of Sicily Region (Southern Italy). New evidence has been promoted to disseminate and share public health intervention models. The project involved public health institutions across the national territory and was carried out during the COVID-19pandemic. The project reached the general aim through specific objectives, identifying information sources and health indicators, evaluating the impact of COVID-19, and promoting intervention programmes for taking charge immigrant population. Social distancing, although necessary, has further amplified the gap of inequalities in health, confirming major vulnerability for infection. Having filled some knowledge gaps and proposed prevention tools has been useful for the containment of the virus, for a possible resurgence of the phenomenon, for application in other emergency contexts, and for recalibration in new epidemic events.

[Impact of the SARS-CoV-2 epidemic on the immigrant population by urbanisation degree in five Italian Regions (Piedmont, Emilia-Romagna, Tuscany, Lazio, and Sicily)]. / Impatto dell'epidemia da SARS-CoV-2 nella popolazione immigrata per grado di urbanizzazione in Piemonte, Emilia-Romagna, Toscana, Lazio e Sicilia.

BACKGROUND: according to the literature, socially disadvantaged strata of the population, including immigrants, have been more vulnerable to the risk of SARS-CoV-2 infection due to greater exposure and less opportunity to protect themselves, and to COVID-19 complications due to metabolic and clinical risk factors as well as to healthcare access barriers. Two Italian projects - coordinated by the Italian National Institute for Health, Migration and Poverty and the Italian National Centre for Disease Prevention and Control - set up an epidemiological surveillance to monitor the temporal trends of the SARS-CoV-2 pandemic in five Italian regions using validated indicators. OBJECTIVES: to identify differences between Italians and immigrants in terms of the epidemic evolution and its health consequences, and to investigate possible differences by urbanisation degree and region of residence. DESIGN: cross sectional study. SETTING AND PARTICIPANTS: resident population in five Italian regions: Piedmont, Emilia-Romagna, Tuscany, Lazio, and Sicily. MAIN OUTCOMES MEASURES: frequencies of positive tests, routine hospitalisations, and deaths related to COVID-19 were collected, with respect to the period between 22.02.2020 and 31.01.2021. Data were aggregated by week, region, degree of urbanisation, gender, age (5-year classes), and citizenship (Italian/foreigner). Crude and standardised rates of the outcomes considered were calculated, stratified by gender, citizenship, region, and aggregated by pandemic macro-period. RESULTS: the study population counts approximately about 23 million residents as of 01.01.2020 (9.4% immigrants). During the period of interest, 1,542,458 cases of infection were recorded, whereas hospitalisations amounted to 175,979, and deaths to 44,867. Lower crude rates of hospitalisations and deaths were observed among immigrants compared to Italians. The age-standardised hospitalisation rates, on the other hand, showed an opposite trend and were significantly higher among immigrants, due to the excess observed in urban areas, especially in periods of epidemic peak, both for males (weekly mean standardised rate: 34.6 per 1,000 of foreign residents vs 24.3 of Italians over the period October 2020-January 2021) and females (23.2 vs 15.1 over the period February-April 2021). These differences seem to be more pronounced in the central regions and tend to disappear for residents in scarcely populated areas. Standardised mortality rates were higher among immigrants, both men and women, from October 2020 and more markedly in February-April 2021 among men. CONCLUSIONS: the impact of COVID-19 was stronger among immigrants in relation to hospitalisation, especially during epidemic peak periods and in some regions. The difference in the impact on mortality was smaller. There is some heterogeneity among regions and urban areas that is worth considering in the planning of interventions and integration policies.

Smartphone Addiction among Adolescents in Southern Italy and Correlation with Other Risky Behaviors.

BACKGROUND: Addiction to smartphone is defined as the disability to cease using the device despite the physical, psychological, or social consequences. The diagnosis of this disorder is increasing exponentially among teenagers, even more so after Corona Virus Disease 2019 (COVID-19) pandemic. This study aims to analyze the risk of mobile phone addiction among teenagers in Italy and its relationship with other risk behaviors, such as drug consumption and emotional well-being, following the COVID-19 pandemic. METHODS: A cross-sectional observational study was conducted in Catania, Sicily, during 2022. The study sample comprised 342 students from a secondary education center that answered to a validated Italian version of the Smartphone Addiction Scale Short Version (SAS-SV) accessing through computers and mobile devices. Subjective Wellbeing was measured with the Personal Wellbeing Index-School Children (PWI-SC). Also, they completed the NIAAA Brief Alcohol Use Screener. RESULTS: Our results showed that 30.1% of students who participated in the survey were classified with a smartphone addiction. Besides, most of the participants used the Smartphone for social networks (86.0%). Regarding the other aspects measured, the mean self-perceived well-being score measured with the PWI-SC was 55.5, and 36.2% of participants were categorized as "high risk" for depression. Finally, four out of ten participants were at "moderate or high risk" of an alcohol use disorder. CONCLUSIONS: Our results suggest that the use of mobile phones is increasing in adolescents, an age group also exposed to social and health problems.

A Particular Focus on the Prevalence of α- and ß-Thalassemia in Western Sicilian Population from Trapani Province in the COVID-19 Era.

Thalassemia is a Mendelian inherited blood disease caused by α- and ß-globin gene mutations, known as one of the major health problems of Mediterranean populations. Here, we examined the distribution of α- and ß-globin gene defects in the Trapani province population. A total of 2,401 individuals from Trapani province were enrolled from January 2007 to December 2021, and routine methodologies were used for detecting the α- and ß-globin genic variants. Appropriate analysis was also performed. Eight mutations in the α globin gene showed the highest frequency in the sample studied; three of these genetic variants represented the 94% of the total α-thalassemia mutations observed, including the -α3.7 deletion (76%), and the tripling of the α gene (12%) and of the α2 point mutation IVS1-5nt (6%). For the ß-globin gene, 12 mutations were detected, six of which constituted 83.4% of the total number of ß-thalassemia defects observed, including codon ß039 (38%), IVS1.6 T > C (15.6%), IVS1.110 G > A (11.8%), IVS1.1 G > A (11%), IVS2.745 C > G (4%), and IVS2.1 G > A (3%). However, the comparison of these frequencies with those detected in the population of other Sicilian provinces did not demonstrate significant differences, but it contrarily revealed a similitude. The data presented in this retrospective study help provide a picture of the prevalence of defects on the α and ß-globin genes in the province of Trapani. The identification of mutations in globin genes in a population is required for carrier screening and for an accurate prenatal diagnosis. It is important and necessary to continue promoting public awareness campaigns and screening programs.

Monitoring of SARS-CoV-2 Infection in Ragusa Area: Next Generation Sequencing and Serological Analysis.

The coronavirus disease 19 (COVID-19) post pandemic evolution is correlated to the development of new variants. Viral genomic and immune response monitoring are fundamental to the surveillance of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Since 1 January to 31 July 2022, we monitored the SARS-CoV-2 variants trend in Ragusa area sequencing n.600 samples by next generation sequencing (NGS) technology: n.300 were healthcare workers (HCWs) of ASP Ragusa. The evaluation of anti-Nucleocapside (N), receptor-binding domain (RBD), the two subunit of S protein (S1 and S2) IgG levels in 300 exposed vs. 300 unexposed HCWs to SARS-CoV-2 was performed. Differences in immune response and clinical symptoms related to the different variants were investigated. The SARS-CoV-2 variants trend in Ragusa area and in Sicily region were comparable. BA.1 and BA.2 were the most representative variants, whereas the diffusion of BA.3 and BA.4 affected some places of the region. Although no correlation was found between variants and clinical manifestations, anti-N and anti-S2 levels were positively correlated with an increase in the symptoms number. SARS-CoV-2 infection induced a statistically significant enhancement in antibody titers compared to that produced by SARS-CoV-2 vaccine administration. In post-pandemic period, the evaluation of anti-N IgG could be used as an early marker to identify asymptomatic subjects.

Burden of Parkinson's disease in Sicily: a health administrative database study.

INTRODUCTION: Prevalence of Parkinson's disease (PD) increases with the advanced ages, representing a relevant health burden. Accurate prevalence estimates are of fundamental need in order to adjust the supply of health services for these patients. The availability of administrative health data from the National Health System provides a useful resource to assess the burden of diseases. Our aim was to evaluate the prevalence of PD through the use of administrative data in the Sicily region. METHODS: We have identified all the subjects affected by PD in Sicily in 2017 by gathering data from three regional health administrative databases: the hospital discharge records, the medical exemption databases, and the pharmacological prescription database. Prevalence rates and 95% confidence intervals (CI) have been calculated across 5-year age classes. RESULTS: PD patients identified through database searching were 24,674, giving a prevalence of 488/100,000 (95%CI 481.9-494.1) inhabitants. Prevalence was higher among men (514.5/100,000; 95%CI 505.6-523.6) and reached a peak in the 85-89 age class (3203.8/100,000; 95%CI 3095.2-3315.1). DISCUSSION: Our prevalence estimates of PD were higher when compared to previous epidemiological surveys conducted in Sicily. These findings are, however, comparable to other studies conducted in Italy that identified cases through administrative databases. Using health databases is a feasible strategy to assess the burden of PD.

[Application of an algorithm for the validation of congenital anomaly cases using hospital discharge records]. / Applicazione di un algoritmo per la validazione dei casi di malformazione congenita provenienti dal flusso delle schede di dimissione ospedaliera.

OBJECTIVES: to evaluate and validate the adoption of an algorithm for the identification of cases of congenital anomalies (CAs) to improve the performance of the Congenital Malformations Registry of Sicily Region (Southern Italy). DESIGN: an algorithm was used to identify congenital anomalies on a sample of hospital discharge records (SDO) with ICD-9-CM code between 740-759 on any of the diagnoses within the first year of life, together with a sample of healthy births equal to 5% of total births for the same period. The identified cases were evaluated through the clinical record analysis. SETTING AND PARTICIPANTS: the analysed sample was composed of 4,271 cases identified between June 2013 and December 2014 along with 3,993 SDO without any code of MC (5% of the total volume of births in the same period). MAIN OUTCOME MEASURES: positive predictive value (VPP) and negative predictive value (VPN) were computed by means of the comparison between the algorithm outcomes and the clinical record verification. RESULTS: 4,271 potentially malformed records involving 3,381 subjects born in the Sicilian territory have been identified. Among the hospital discharge records that it was possible to verify, the application of the algorithm led to the exclusion of 924 cases: of these, 62 proved to be false negatives (VPN: 93.3). The valid cases were 1,179, while the cases to be evaluated 617: the comparison between algorithm and clinical record analysis led to a VPP of 91.7 and 72.1, respectively, for valid and to be evaluated. CONCLUSIONS: the tested algorithm proved to be a useful tool for identifying SDO potentially related to congenital anomalies. In the overall sample, the algorithm provided an outcome consistent with the clinical record assessment in 87.4% (2,379) of cases.

[The impact of the COVID-19 pandemic on the Italian and foreign population in the various phases: the results of an interregional multicentre project]. / L'impatto della pandemia di COVID-19 nella popolazione italiana e straniera residente nelle diverse fasi: i risultati di un progetto multicentrico inter-regionale.

OBJECTIVES: to analyze the difference of the SARS-CoV-2 infection impact between Italian and foreigner subjects, evaluating the trend of infections and access to diagnostic tests (molecular or antigenic swabs for the detection of SARS- CoV-2) in the two different populations, inducing the detection of new positive cases in the population. DESIGN: retrospective population study for the period February 2020-June 2021. SETTING AND PARTICIPANTS: Italian and foreign resident population on 1st January of the years 2020 and 2021 in the Regions participating to the project: Piedmont, Lombardy, Veneto, Emilia-Romagna (Northern Italy), Tuscany, Lazio (Central Italy), and Sicily (Southern Italy). MAIN OUTCOME MEASURES: in the two populations, for every week and aggregated by macropandemic period were calculated: • the test rate (people tested on the population); • the swab positivity rate (positive subjects on those who are tested); • the new positives (positive subjects on study population); • the percentage of foreigners among the new positive cases. The ratio of the value of the indicators in the foreign and Italian populations (with 95% confidence interval) was calculated to evaluate the association between nationality (Italian vs not Italian) and outcome. The analyses were conducted at the regional level and at pool level. RESULTS: the trend of new positives by nationality (Italian vs not Italian) has a similar tendency in the different pandemic waves. However, the incidence of new positives during pandemic waves among foreigners is lower than in Italians, while it tends to increase during intermediate periods. Except for the summer periods, foreigners are less tested than Italians, but the percentage of new positives out of the total of new ones tested is higher among foreigners compared to Italians. The relative weight of new positives among foreigners tends to increase in periods with the greatest risk of inflow of SARS-CoV-2 for foreigners. CONCLUSIONS: the epidemic trends in the two populations are similar, although foreigners tend to show lower incidence values, probably in part because they are tested less frequently. Furthermore, in foreigners compared to Italians, there is a greater risk of contracting SARS-CoV-2 infection, especially in periods of relaxation of containment Coronavirus measures, reopening of national borders, production and commercial activities.

[The impact of COVID-19 on the immigrant population in Italy. Context, methodology and synthesis of the main evidence from the project of the National Institute for Health, Migration and Poverty (INMP) and Italian Regions]. / L'impatto del COVID-19 nella popolazione immigrata in Italia. Contesto, metodologia e sintesi delle principali evidenze dal progetto INMP-Regioni.

COVID-19 acted on health inequalities in two ways: directly, in terms of infection risk and outcomes; indirectly, through effects on the economy, which exacerbated social inequalities. Immigrants have particularly suffered the effects of the pandemic.The Italian National Institute for Health, Migration and Poverty (INMP) has promoted the project "Epidemiology of SARS-CoV-2 (COVID-19) infection and use of health services in immigrant and vulnerable population groups in Italy" in collaboration with the Regions of Piedmont, Lombardy, Veneto, Emilia-Romagna, Tuscany, Lazio, and Sicily, to assess the impact of the pandemic in the immigrant population.This is an observational population-based study design, based on weekly monitoring data from the COVID-19 National Surveillance System of the Italian National Health Institute (ISS). The observation period was split into five sub-periods: February-May 2020 (wave I), June-September 2020 (intermediate period I), October 2020-January 2021 (wave II), February-April 2021 (wave III), May-July 2021 (intermediate period II).Access to diagnostic testing was higher among Italians; the incidence curve showed a lower level of infection among immigrants during the three waves and higher in the two intermediate periods. Age-standardized hospitalization rates were higher among immigrants both in noncritical care areas and in the intensive care unit, particularly in the intermediate stages of the epidemic. Immigrant standardized mortality rates were higher than those of Italians since the third period among males and in the fourth period among females.Differences were also observed on a regional basis and by the immigrants' area of origin.

An emergent infectious disease: Clostridioides difficile infection hospitalizations, 10-year trend in Sicily.

BACKGROUND: Clostridioides difficile is the most common cause of healthcare-associated diarrhoea worldwide and C. difficile infection is an emerging infectious disease. In the US, its rates are monitored trough an active surveillance system, but many European Union member states still lack this, and in Italy no epidemiological data on C. difficile infection are available except for a few single-centre data. AIM: To provide data on the C. difficile infection incidence in Sicily (the biggest and 5th most populous region of Italy) during a 10-year period. METHODS: We revised all the regional standardized discharge forms between 2009 and June 2019 using the code ICD-9 00845 of the International Classification of Diseases, Ninth Revision Clinical Modification, which refers to C. difficile infection with or without complications. RESULTS: 1139 cases of CDI were identified. 97% were adults with a median age of 73.2 years and a male-to-female ratio of 1:1.4. Female patients were older than males and patients who died were older than patients who did not. The main comorbidities were renal disease, diabetes, pneumonia and hypertension. There were 65 reporting hospitals and 86% of cases were provided by level III and II hospitals. Between 2009 and 2019, the incidence increased 40-fold. 81.5% of cases were reported in Medicine Units, Infectious Diseases Units and long-term care facilities. The mean length of stay was 20 days. Mean case fatality rate was 8.3% over the 10-year period. CONCLUSION: Clostridioides difficile infection is a dramatically increasing condition in Sicily. A high-quality surveillance system and shared diagnostic protocols are needed.

Are diabetes and its medications risk factors for the development of COVID-19? Data from a population-based study in Sicily.

BACKGROUND AND AIMS: Diabetes mellitus (DM) has been associated with higher incidence of severe cases of COVID-19 in hospitalized patients, but it is unknown whether DM is a risk factor for the overall COVID-19 incidence. The aim of present study was to investigate whether there is an association of DM with COVID-19 prevalence and case fatality, and between different DM medications and risk for COVID-19 infection and death. METHODS AND RESULTS: retrospective observational study on all SARS-CoV-2 positive (SARS-CoV-2+) cases and deaths in Sicily up to 2020, May 14th. No difference in COVID-19 prevalence was found between people with and without DM (RR 0.92 [0.79-1.09]). Case fatality was significantly higher in SARS-CoV-2+ with DM (RR 4.5 [3.55-5.71]). No diabetes medication was associated with differences in risk for SARS-Cov2 infection. CONCLUSIONS: in Sicily, DM was not a risk factor for COVID-19 infection, whereas it was associated with a higher case fatality.

Reading and spelling disorders in a school-based population screening in Sicily (Italy).

This research was carried out according to the Italian Consensus Conference on Specific Learning Disability guidelines for screening initiatives. It describes a three-year screening project involving 2.469 students, aged 8-15 years, from various classes of primary, lower and upper secondary schools of Sicily. Students were assessed for reading and spelling skills. Overall, 4.9% met the risk criteria for suspected reading disorder, 6.1% for spelling disorder, while 8.5% for both conditions. Results showed that out of 932 pupils in the primary school, 4.6% met the risk criteria for reading disorder and 6.5% for spelling disorder; out of 855 pupils of the lower secondary school, 5.3% for reading disorder and 5.5% for spelling disorder; out of 652 pupils of the upper secondary school, 4.9% for reading disorder and 6.1% for spelling disorder. No significant difference in the prevalence of students at risk of reading disorder or spelling disorder, within the three grade-levels over 3 years, was found. At project conclusion further clinical investigation to verify the screening results on student sub-sample (57%) was carried out. The percentage of students with SLD was equal to 3.15%, in the primary school, 3.76% in the lower secondary school and 2.51%, in the upper secondary school.

Bovine besnoitiosis in a cattle herd in Sicily: an isolated outbreak or the acknowledgment of an endemicity?

Bovine besnoitiosis is a debilitating infectious disease caused by Besnoitia besnoiti (Apicomplexa; Sarcocystidae). The disease is mainly characterized by cutaneous and systemic signs, infertility in bulls, and abortion in cows. The current study describes an autochthonous outbreak of bovine besnoitiosis in Sicily, Southern Italy, being the first report of B. besnoiti infection in the island so far. In a cattle farm located in Syracuse province, a 4-year-old Belgian blue bull born in Sicily displayed typical clinical signs of the sub-acute/chronic disease phase with thickening of the skin of the scrotum and testicular degeneration. Histological examination of scrotal biopsies revealed the presence of several tissue cysts of B. besnoiti. The serological analysis of the herd using a commercial ELISA revealed a high seroprevalence (45 out of 55; 82%) of antibodies against B. besnoiti. Few seropositive animals (5 out of 45; 11%) showed clinical signs, cysts in vestibulum vaginae (1 out of 31; 3.2%), and testicular degeneration (4 out of 14; 28.6%) assessed by ultrasonographic investigations. The paucity of clinical signs associated with the high seroprevalence in the farm led to hypothesize that bovine besnoitiosis is endemic in the area though further studies are needed. Local practitioners should be more aware of the disease to facilitate the early detection of cases, prevent the spread of infection, and avoid economic losses and animal health problem.

The true panel of cystic fibrosis mutations in the Sicilian population.

BACKGROUND: The aim was to establish the true risk of having an affected child with Cystic Fibrosis (CF) in the Sicilian infertile population. METHODS: A longitudinal CFTR screening of 1279 Sicilian infertile patients for all CFTR mutations sequencing the entire gene by Next Generation Sequencing (NGS) was performed from patient's blood. RESULTS: One patient out of 16 was a carrier of a CFTR mutation. Twenty-four mutations were found. Theoretically one couple out of 256 was at risk of CF transmission. CONCLUSIONS: The risk of CF transmission is unexpectedly high in Sicily and with a high heterogeneity. Sequencing an entire and long gene such as CFTR makes accessible the true panel of mutations in a specific population and helps better to understand the true risk of having an affected child.

Lack of evidence for Toxocara infection in Italian myelitis patients.

Acute myelitis is a common neurological manifestation due to different causes, but in about 15-30% of cases its etiology remains unknown (idiopathic myelitis). Myelitis represents the most common manifestation of neurotoxocariasis, the infection of the human nervous system by larvae of the nematode Toxocara spp.; however, despite the high seroprevalence worldwide, its contribution to the burden of disease has not been assessed. We evaluated the presence of antibodies against Toxocara spp. in cerebrospinal fluid (CSF) from a sample of 28 patients with a diagnosis of idiopathic myelitis (N = 20) or encephalomyelitis (N = 8) who attended the Neurological Unit of the University Hospital of Catania, Sicily. Antibodies against Toxocara spp. were measured using a multiplex bead-based assay and Toxocara immunoblot using Toxocara canis excretory secretory antigens. All samples tested negative for the presence of anti-T. canis IgG antibodies. In this series, we found no evidence of a contribution of neurotoxocariasis to the burden of myelitis.

Health conditions of migrants landed in north-eastern Sicily and perception of health risks of the resident population.

OBJECTIVES: In Italy, a recent irregular movement of people raised concerns among the host population on possible introduction of diseases that have long been controlled in the host countries. This study evaluates the health conditions of illegal immigrants landed on the north-eastern Sicilian territory, to provide information on the clinical and epidemiologic burden of infectious diseases among migrants and how the local population feel about these landings. STUDY DESIGN: The study design is a cross-sectional study. METHODS: The study considered all migrants landed illegally in the city of Messina, Sicily, between January 2014 and July 2018. Analysing the data of hospital admissions and disease notifications, we calculated the frequency of infectious diseases among migrant population. Furthermore, through a survey conducted by a well-known online newspaper, we analysed the perception that the local population has about the health risk represented by migrants. RESULTS: In the considered five-year period, 108 landings, for a total of 38,608 migrants occurred at the Messina port. The percentage of hospitalisation was rather low (3.5%), and it concerned mainly pregnant women. The notifications of infectious diseases were contained, with exception of scabies and tuberculosis. Finally, from the online survey, resulted that there is a large part of local population that considers migrants a potential danger to community health. CONCLUSIONS: Our data show that the presence of migrants should not have to date any impact on the health conditions of the resident population. However, monitoring over time the health of migrants and screening for infectious diseases as soon as possible after landing are advantageous for both migrants and host country.

Occupational cohort study of asbestos-cement workers in a contaminated site in Sicily (Italy).

OBJECTIVES: to analyse the asbestos-related diseases risk among the former workers of Sacelit asbestos-cement plant, operating in San Filippo del Mela (Sicily: 1958- 1993). DESIGN: cohort study. SETTING AND PARTICIPANTS: 228 subjects were employed in Sacelit from 1958 to 1993. Due to the available observation periods, the analyses of the different outcomes were performed for the subjects alive at the beginning of the respective follow up periods: mortality (1986-2018) was analysed for 204 subjects (177 men, 27 women), hospitalization (2001-2016) for 164 workers (139 men, 25 women) and the incidence of mesothelioma (1998-2016) was estimated for 178 subjects (153 men, 25 women). MAIN OUTCOMES MEASURES: mortality (Standardized Mortality Ratio: SMR) and hospitalization (Standardized Hospitalization Ratio: SHR) from specific diseases were analysed. Incidence (Standardized Incidence Ratio: SIR) of mesothelioma cases was detected, also. SMR (1986-2014), SHR (2001-2016) and SIR (1998-2016), with 95% Confidence Intervals, were computed with respect to the regional rates, with STATA11. RESULTS: in the men cohort, mortality from lung (17 cases, SMR 2.83) and pleural cancers (5 cases, SMR 30) and from asbestosis (15 cases, SMR 1,930) was in excess. The risk of hospitalization was in excess, in both genders, from lung cancer (men: 6 cases, SHR 4.1; women: 2 cases, SHR 8.6) and asbestosis (men: 17 cases, SHR 1,304; women: 6 cases, SHR 2,455). The incidence of mesothelioma was in excess in men (5 cases, SIR 23.9); no female cases of mesothelioma were observed. CONCLUSIONS: a high occurrence of asbestos-related diseases in the cohort, particularly among men, was observed. The excess of hospitalization from asbestosis and lung cancer was highlighted also in women. The prosecution of the on-going health surveillance plan is particularly appropriated.