[Omic sciences and capacity building of health professionals: a distance learning training course for Italian physicians, 2017-2018]. / Scienze omiche e capacity building dei professionisti sanitari: corso di formazione a distanza per i medici italiani.

BACKGROUND: Nowadays, a strategy to manage the current "omic revolution" is needed in Italy. Actions aimed to improve genetic/omics "literacy" among health professionals and citizens are necessary, based on recommendations outlined in the Italian 2013 Guidelines on genomics in public health, and the 2018 National Plan for the innovation of the health system based on the omic sciences. MATERIALS AND METHODS: In the context of a project funded by the Italian Ministry of Health, a distance-learning course entitled "Genetic and Genomic practices" was developed, targeted at medical professionals (mainly general practitioners). The main objective of the course was to train physicians in the responsible use of omic technologies. The course was structured according to the main models of adult learning theory (Problem-based-learning and case studies) and delivered on the institutional platform of the Italian National Institute of Health for one year, from February 2017 to February 2018, with the endorsement of the Italian Society of Hygiene and Preventive Medicine and the Italian Society of Human Genetics. RESULTS: In one year, 3,054 participants registered for the course and 53% completed it. About 21% of participants were primary care physicians, 12% were public health physicians and 11% were hospital paediatricians. The most represented age group of participants was 51-65 years and their geographical distribution was 38.5% southern Italy/islands, 36.3% northern Italy and 25.2% central Italy. Pre-test data showed that training needs of primary care physicians was very high. CONCLUSIONS: In the current context, characterized by the "omic revolution", physicians must be able to understand its potential implications for the diagnosis, control and treatment of diseases. It is therefore necessary to work on capacity building of all health professionals involved in various ways in the use of the "omic sciences". Distance-learning training in genetic/genomic practices represents a low-cost, satisfactory and clinically applicable method to improve physicians' knowledge.

Primary Prevention of Congenital Anomalies: Special Focus on Environmental Chemicals and other Toxicants, Maternal Health and Health Services and Infectious Diseases.

Congenital anomalies (CA) represent an important fraction of rare diseases, due to the critical role of non-genetic factors in their pathogenesis. CA are the main group of rare diseases in which primary prevention measures will have a beneficial impact. Indeed, since 2013 the European Union has endorsed a body of evidence-based recommendations for CA primary prevention; the recommendations aim at facilitating the inclusion of primary prevention actions the National Rare Disease Plans of EU Member States and encompass different public health fields, from environment through to maternal diseases and lifestyles.The chapter overviews and discusses the assessment of main risk factors for CA, such as environmental toxicants, maternal health and lifestyles and infections, with a special attention to issues that are emerging or need more knowledge.Overall, the availability of CA registries is important for estimating the health burden of CA, identifying possible hotspots, assessing the impact of interventions and addressing further, fit-to-purpose research.The integration of relevant public health actions that are already in place (e.g., control of noxious chemicals, vaccination programmes, public health services addressing chronic maternal conditions) can increase the affordability and sustainability of CA primary prevention. In developing countries with less primary prevention in place and limited overall resources, a first recognition phase may be pivotal in order to identify priority targets. In the meanwhile, policy makers should be made aware that primary prevention of RD supports publicly endorsed societal values like the knowledge-based promotion of health, empowerment, equity and social inclusiveness.

Evaluating the impact of distance learning on gender-affirming healthcare competence: knowledge acquisition and satisfaction among healthcare professionals in Italy.

Background: Transgender and gender diverse (TGD) individuals face significant healthcare barriers, with one of the most critical being the inadequate knowledge and skills of healthcare professionals (HCPs) in TGD health. To address this issue, we undertook a project to develop a distance learning course for all healthcare professions, encompassing a comprehensive range of topics related to TGD health issues. Objectives: This study aimed to evaluate the impact of a course on gender-affirming healthcare competence, with a focus on knowledge acquisition and satisfaction levels. The hypothesis was that participating in the course would enhance the participants' knowledge on the covered topics. Methods: A distance learning course, designed for all Continuing Medical Education professions, was conducted between March and September 2023. The course was structured according to the Problem-Based Learning methodology. We implemented a pre-test vs. post-test study design to evaluate the enhancement of knowledge, based on a set of Multiple Choice Questions (MCQs), and investigated users' satisfaction through the administration of a semi-structured questionnaire. We examined the pre- and post-course proportions of correct responses to questions, along with the mean score difference, categorized by learners' sex, age, and geographical area. Eventually, a Satisfaction Training Index was created. Results: The maximum capacity was reached, with 29,998 out of 30,000 available spots filled. Of those enrolled, 18,282 HCPs successfully completed the training. Post-test results revealed an increase in correct answers across all MCQs, with overall mean score rising from 48.8 to 68.0 (p < 0.001). Stratified analysis indicated improvements across all participant categories. A higher average increase among female (19.87) compared to male enrollees (17.06) was detected (p < 0.001). Both "over 55" and "46-55" age groups showed the greatest score increases compared to "35-46" and "under 35" groups, despite no significant differences in pre-test scores. Course satisfaction was high, averaging 4.38 out of 5. Top-rated aspects included "learning new concepts" (4.49), "accessibility" (4.46), and "platform functionality" (4.46). Conclusion: Our research hypothesis was confirmed by the significant increase in knowledge going from pre-test to post-test and by the high level of user satisfaction. The obtained results serve as a foundation for planning additional professional education in TGD health.

Dietary assessment training: The Italian IV SCAI study on 10-74 year-old individuals' food consumption.

Dietary surveys are conducted to examine the population's dietary patterns that require a complex system of databases, and rules for constructing the data matrix (precision, coding, deriving new variables, e.g., body mass index from individual's height and weight, classes, e.g., age-class, socio-economic status, physical activity, etc.). Management of the data collection requires specialized fieldworkers to allow for the collection of harmonized and standardized data. In this way, only statistical variability is envisaged and any eventual biases are due to probabilistic distribution but data are not affected by inaccuracy. Training the fieldworkers is a crucial part of each dietary survey. The idea to provide constant training throughout the whole survey period, from the preparatory phase to the data collection phase, relies on the necessity to train fieldworkers and monitor the skills acquired during the study, in addition to helping fieldworkers to gain the necessary experience. This study aims to relate the experience in conducting the course path to high specialized interviewers who carried out the cycle devoted to the 10-74 age class of the fourth nationwide food consumption study in Italy (IV SCAI ADULT) according to the European Food Safety Authority (EFSA) guide. A course path was structured in three steps corresponding to the preparation, pilot, and collection phases. The whole path achieved the goal of collecting data related to 12 individuals by each participant, with an overall success rate (successful trainees/total participants) of 16.8% (84 out of an initial 500). The study aimed to provide good quality data in the short term and a highly specialized community in the long term. Surveillance nutritional systems can count on a highly skilled community, so decision-making in public health nutrition and a sustainable and healthy food system can rely on this infrastructure.

Capacity Building of Health Professionals on Genetics and Genomics Practice: Evaluation of the Effectiveness of a Distance Learning Training Course for Italian Physicians.

BACKGROUND: The rapid spread of personalized medicine requires professionals to manage the "omics revolution." Therefore, the genetics/genomics literacy of healthcare professionals should be in line with the continuous advances in this field, in order to implement its potential implications for diagnosis, control and treatment of diseases. The present study investigates the effectiveness of a distance learning course on genetics and genomics targeted at medical doctors. METHODS: In the context of a project funded by the Italian Ministry of Health, we developed a distance learning course, entitled Genetics and Genomics practice. The course focused on genetic/genomics testing, pharmacogenetics and oncogenomics and was developed according to andragogical training methods (Problem-based Learning and Case-based Learning). We used a pre-test vs. post-test study design to assess knowledge improvement on a set of 10 Multiple Choice Questions (MCQs). We analyzed the proportion of correct answers for each question pre and post-test and the mean score difference stratified by gender, age, professional status and medical discipline. Moreover, the test was submitted to the participants 8 months after the conclusion of the course (follow-up), in order to assess the retained knowledge. RESULTS: The course was completed by 1,637 Italian physicians, most of which were primary care physicians (20.8%), public health professionals (11.5%) and specialist pediatricians (10.6%). The proportion of correct answers increased in the post-test for all the MCQs. The overall mean score significantly increased, from 59.46 in the pre-test to 71.42 in the post-test (p < 0.0001). The comparison in test performance between follow-up and pre-test demonstrated an overall knowledge improvement. CONCLUSION: Genomics literacy among healthcare professionals is essential to ensure optimal translation to healthcare delivery of research. The results of this course suggest that distance-learning training in genetic/genomics practice represents an effective method to improve physicians' knowledge in the immediate and mid-term time scale. A preprint version of this paper is available at: https://www.researchsquare.com/article/rs-10083/v1.

A Dietary Assessment Training Course Path: The Italian IV SCAI Study on Children Food Consumption.

The eating patterns in a population can be estimated through dietary surveys in which open-ended assessment methods, such as diaries and interviews, or semi-quantitative food frequency questionnaires are administered. A harmonized dietary survey methodology, together with a standardized operational procedure, in conducting the study is crucial to ensure the comparability of the results and the accuracy of information, thus reducing uncertainty and increasing the reliability of the results. Dietary patterns (i) include several target variables (foods, energy and nutrients, other food components), (ii) require several explanatory variables (age, gender, anthropometric measurements, socio-cultural and economic characteristics, lifestyle, preferences, attitudes, beliefs, organization of food-related activities, etc.), and (iii) have impacts in several domains: imbalance diets; acute and chronic exposures affect health, specifically non-communicable diseases; and then sanitary expenditure. On the other hand, food demand has impacts on the food system: production, distribution, and food services system; food wastes and other wastes generated by food-related activities of the households (e.g., packaging disposal) have consequences on the "health of the planet" which in turn can have effects on human health. Harmonization and standardization of measurement methods and procedures in such a complex context require an ad hoc structured information system made by databases (food nomenclatures, portion sizes, food atlas, recipes) and methodological tools (quantification methods, food coding systems, assessment of nutritional status, data processing to extrapolate what we consider validated dietary data). Establishing a community of professionals specialized in dietary data management could lead to build a surveillance system for monitoring eating habits in the short term, thus reducing costs, and to arrange a training re-training system. Creating and maintaining the dietary data managers community is challenging but possible. In this context, the cooperation between the CREA Research Centre for Food and Nutrition and the Italian National Health Institute (ISS) promoted and supported by the Italian Ministry of Health may represent a model of best practice that can ensure a continuous training for the professional community carrying out a nutritional study.

Corrigendum: A Dietary Assessment Training Course Path: The Italian IV SCAI Study on Children Food Consumption.

[This corrects the article DOI: 10.3389/fpubh.2021.590315.].

Measles and rubella in Italy, e-learning course for health care workers.

INTRODUCTION: Since 2003, strategic plans for the elimination of measles and congenital rubella have been adopted in the World Health Organization European Region. In Italy, a network of reference laboratories for measles and rubella (MoRoNet) has been recently implemented to ensure high-quality laboratory investigation for the confirmation of cases and outbreaks. Training among health care workers (HCWs) is one of the tasks of MoRoNet and an e-learning course was produced to improve the knowledge on international and national elimination plans and laboratory surveillance for measles and rubella. METHODS: The course, based on the problem based learning methodology, was offered free of charge. Data about all participants and those who completed the course have been collected and analysed. RESULTS: 5822 participants enrolled and 3995 (69%) completed the course; comparison between pre- and post-test shows a significant improvement in knowledge. The average score obtained from the satisfaction questionnaire is 4.5 out of 5. DISCUSSION AND CONCLUSIONS: Course's results are satisfactory, and data show a significant improvement in knowledge among participants. Most of them were satisfied with content, learning methodology and platform. Moreover, this course represents one of the possible strategies to overcome resistance and mistrust about vaccinations among HCWs.

Maternal diet and the risk of hypospadias and cryptorchidism in the offspring.

Male genital tract birth defects have been associated in previous studies with several prenatal exposures to environmental and dietary risk factors. The purpose of this study was to explore the association between hypospadias and cryptorchidism, and the dietary habits of an agricultural population in Italy. A population-based case-control study was conducted in the Sicilian Province of Ragusa. Cases (n = 90) and controls (n = 202) included births for the period 1998-2002. Data on dietary habits of the mothers, as well as health-related social, occupational and environmental exposures prior to and during the index birth, were collected through interviews. Adjusted odds ratios (OR) were calculated by logistic regression after adjustment for confounding variables. Increased ORs were observed for mothers of children with hypospadias who, during pregnancy, frequently consumed fish (OR = 2.33 [95% confidence interval (CI) 1.03, 5.31]) and market-purchased fruit (OR = 5.10 [95% CI 1.31, 19.82]). For cryptorchidism, increased risk was observed in mothers consuming liver (OR = 5.21 [95% CI 1.26, 21.50]), and smoked products (OR = 2.46 [95% CI 1.15, 5.29]). For the two malformations pooled together, increased risk was associated with maternal consumption of liver (OR = 4.38 [95% CI 1.34, 14.26]) and with frequent consumption of wine (OR = 1.98 [95% CI 1.01, 3.86]). This study suggests that some maternal dietary factors may play a role in the development of congenital defects of the male reproductive tract. In particular, our data indicate that further research may be warranted on the endocrine-disrupting effects resulting from the bioaccumulation of contaminants (fish, liver), pesticides (marketed fruit, wine) and/or potentially toxic food components (smoked products, wine, liver).

Surveillance of toxic exposures: the pilot experience of the Poison Control Centers of Milan, Pavia and Bergamo in 2006.

Between 1 February and 31 March 2006, the Poison Control Centers (PPC) active in Lombardy collaborated with an integrated surveillance system carried out in Piedmont during the Olympic Games 2006. The collaborating PPC notified to the system 697 human cases of exposure occurred in Piedmont during the observation period. Among these cases, 70% were exposed accidentally, 40% were 6 years old or younger, and 45% reported at least a clinical effect. The agents more frequently reported were: cleaning substances (household) (110 cases), fumes/gases/vapors (63 cases, comprising 38 cases accidentally exposed to carbon monoxide), and sedative/hypnotics/antipsychotics (53 cases). Although very limited, the available observations focused the attention on specific hazards and were able to highlight the potential of a toxic exposure surveillance system based on the information reported by the Italian PPC.

Congenital Anomalies in Contaminated Sites: A Multisite Study in Italy.

The health impact on populations residing in industrially contaminated sites (CSs) is recognized as a public health concern especially in relation to more vulnerable population subgroups. The aim of this study was to estimate the risk of congenital anomalies (CAs) in Italian CSs. Thirteen CSs covered by regional CA registries were investigated in an ecological study. The observed/expected ratios (O/E) with 90% confidence intervals (CI) for the total and specific subgroups of CAs were calculated using the regional areas as references. For the CSs with waste landfills, petrochemicals, and refineries, pooled estimates were calculated. The total number of observed cases of CAs was 7085 out of 288,184 births (prevalence 245.8 per 10,000). For some CSs, excesses for several CA subgroups were observed, in particular for genital and heart defects. The excess of genital CAs observed in Gela (O/E 2.36; 90% CI 1.73-3.15) is consistent with findings from other studies. For CSs including petrochemical and landfills, the pooled risk estimates were 1.10 (90% CI 1.01-1.19) and 1.07 (90% CI 1.02-1.13), respectively. The results are useful in identifying priority areas for analytical investigations and in supporting the promotion of policies for the primary prevention of CAs. The use of short-latency effect indicators is recommended for the health surveillance of the populations residing in CSs.

Primary prevention of congenital anomalies: recommendable, feasible and achievable.

Primary prevention of congenital anomalies was identified as an important action in the field of rare diseases by the European Commission in 2008, but it was not included in the Council Recommendation on an action in the field of rare diseases in 2009. However, primary prevention of congenital anomalies is feasible because scientific evidence points to several risk factors (e.g., obesity, infectious and toxic agents) and protective factors (e.g., folic acid supplementation and glycemic control in diabetic women). Evidence-based community actions targeting fertile women can be envisaged, such as risk-benefit evaluation protocols on therapies for chronic diseases, vaccination policies, regulations on workplace and environmental exposures as well as the empowerment of women in their lifestyle choices. A primary prevention plan can identify priority targets, exploit and integrate ongoing actions and optimize the use of resources, thus reducing the health burden for the new generation. The EUROCAT-EUROPLAN recommendations for the primary prevention of congenital anomalies endorsed in 2013 by the European Union Committee of Experts on Rare Diseases present an array of feasible and evidence-based measures from which national plans can adopt and implement actions based on country priorities. Primary prevention of congenital anomalies can be achieved here and now and should be an integral part of national plans on rare diseases.

Environmental factors and the proportion of males at birth in Italy.

A significant decline in the proportion of male births has been observed in recent decades in several western countries, and several researchers have raised the question of the possible role of environmental pollution in this trend. In the present analysis, the authors examined the effect of environmental factors (pollution from pesticides, urban pollution, and industrial pollution) on the sex ratio (proportion of males) of Italian singleton 1st births for the years 1989-1993, controlling for the age of the mother. The data show a slight increase in the sex ratio from north to south; however, no reduction in the proportion of males was seen in areas with higher pesticide consumption or intense industrial pollution. A small reduction in sex ratio was found in the major urban centers. The analysis was based on individual information on birth order and maternal age, as well as on ecological data on environmental pollution. No significant association was found between environmental pollution and the proportion of male births in Italy during the study period.

European recommendations for primary prevention of congenital anomalies: a joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans.

Congenital anomalies (CA) are the paradigm example of rare diseases liable to primary prevention actions due to the multifactorial etiology of many of them, involving a number of environmental factors together with genetic predispositions. Yet despite the preventive potential, lack of attention to an integrated preventive strategy has led to the prevalence of CA remaining relatively stable in recent decades. The 2 European projects, EUROCAT and EUROPLAN, have joined efforts to provide the first science-based and comprehensive set of recommendations for the primary prevention of CA in the European Union. The resulting EUROCAT-EUROPLAN 'Recommendations on Policies to Be Considered for the Primary Prevention of Congenital Anomalies in National Plans and Strategies on Rare Diseases' were issued in 2012 and endorsed by EUCERD (European Union Committee of Experts on Rare Diseases) in 2013. The recommendations exploit interdisciplinary expertise encompassing drugs, diet, lifestyles, maternal health status, and the environment. The recommendations include evidence-based actions aimed at reducing risk factors and at increasing protective factors and behaviors at both individual and population level. Moreover, consideration is given to topics specifically related to CA (e.g. folate status, teratogens) as well as of broad public health impact (e.g. obesity, smoking) which call for specific attention to their relevance in the pre- and periconceptional period. The recommendations, reported entirely in this paper, are a comprehensive tool to implement primary prevention into national policies on rare diseases in Europe.

Folic acid and primary prevention of birth defects.

Birth defects (BDs) are an important public health problem, due to their overall incidence, occurring in 2-3% of live births in European Union. Neural tube defects (NTDs) are among major NTDs, due to their severity and relatively high incidence; in the meanwhile NTDs are also the most effectively preventable BDs to date. In particular, an adequate folic acid (FA) intake reduces both the occurrence and the recurrence of NTDs; FA is the synthetic form of folates, naturally occurring vitamins in a number of foods, especially vegetables. The daily intake of 0.4 mg of FA should be recommended to all women of childbearing age who plan to become pregnant. The Italian Network for Primary Prevention of BDs through FA Promotion has achieved a significant improvement in FA awareness and use in the periconceptional period. Nevertheless, primary prevention of BDs needs to make further progress; the Italian National Centre for Rare Diseases participates in european sureveillance of congenital anomalies (EUROCAT) Joint Action as coordinator of activities on the effectiveness of BDs prevention. Mandatory food fortification with FA has not been introduced in any European country. The health benefits of FA in reducing the risk of NTDs are undisputed; however mechanistic and animal studies suggest a relationship between high FA intakes and increased cancer promotion, while human studies are still inconsistent and inconclusive. A Working Group organized by the European Food Safety Authority pointed out significant uncertainties about fortification safety and the need for more studies; currently, FA intake from fortified foods and supplements should not exceed 1 mg/day in adults. In conclusion, based on up-to-date scientific evidence, the Italian Network strategy pivots on periconceptional supplementation integrated with promotion of healthy eating habits, support to health education, enhancing the role of women in managing life choices about their health and pregnancy and increasing the scientific knowledge about BDs primary prevention.

Endocrine-disrupting chemicals and testicular cancer: a case-control study.

Environmental factors appear to be important in the etiology of testicular cancer. In this study, the authors identified some risk factors for testicular cancer, paying particular attention to prenatal and early life exposure to endocrine-disrupting chemicals (EDCs). Using a questionnaire, the authors obtained information on male participants' environmental and occupational exposures during adolescence and adulthood. A multivariate logistic regression analysis of 103 cases and 215 controls showed an association between seminoma and nonseminoma and hobby activities that potentially involved the use of EDCs (eg, paints, glues, or solvents). Rural residence during adolescence was associated with all histological types of testicular cancer and with seminoma. No association was found with occupational exposures of the subjects. This study's findings also confirm previously identified risk factors, such as history of cryptorchidism and undescended testicle, high educational level, and low birth weight, and it gives some support to the hypothesis of a possible association between EDC exposures and testicular cancer.