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1.
Ig Sanita Pubbl ; 75(2): 105-124, 2019.
Artigo em Italiano | MEDLINE | ID: mdl-31377756

RESUMO

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.

2.
Adv Exp Med Biol ; 1031: 301-322, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29214580

RESUMO

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.


Assuntos
Doenças Transmissíveis/transmissão , Anormalidades Congênitas/prevenção & controle , Poluentes Ambientais/efeitos adversos , Transmissão Vertical de Doença Infecciosa , Estilo de Vida , Exposição Materna/prevenção & controle , Serviços de Saúde Materna , Saúde Materna , Prevenção Primária/métodos , Anormalidades Induzidas por Medicamentos/diagnóstico , Anormalidades Induzidas por Medicamentos/epidemiologia , Anormalidades Induzidas por Medicamentos/prevenção & controle , Doenças Transmissíveis/diagnóstico , Doenças Transmissíveis/epidemiologia , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/epidemiologia , Feminino , Humanos , Exposição Materna/efeitos adversos , Gravidez , Medição de Risco , Fatores de Risco , Comportamento de Redução do Risco
3.
Artigo em Inglês | MEDLINE | ID: mdl-28287452

RESUMO

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.


Assuntos
Anormalidades Congênitas/epidemiologia , Locais de Resíduos Perigosos , Humanos , Lactente , Recém-Nascido , Itália/epidemiologia , Prevalência , Sistema de Registros , Risco
4.
Public Health Genomics ; 18(3): 184-91, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25791968

RESUMO

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.


Assuntos
Anormalidades Congênitas , Exposição Ambiental/prevenção & controle , Infecção , Obesidade , Complicações na Gravidez , Prevenção Primária , Doenças Raras , Doença Crônica/epidemiologia , Doença Crônica/terapia , Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/etiologia , Anormalidades Congênitas/prevenção & controle , Exposição Ambiental/efeitos adversos , Exposição Ambiental/estatística & dados numéricos , Europa (Continente)/epidemiologia , Feminino , Política de Saúde , Humanos , Infecção/epidemiologia , Infecção/terapia , Obesidade/epidemiologia , Obesidade/prevenção & controle , Cuidado Pré-Concepcional/organização & administração , Gravidez , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/prevenção & controle , Prevenção Primária/métodos , Prevenção Primária/organização & administração , Doenças Raras/epidemiologia , Doenças Raras/etiologia , Doenças Raras/prevenção & controle , Medição de Risco , Fatores de Risco
6.
Public Health Genomics ; 17(2): 115-23, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24714026

RESUMO

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.


Assuntos
Anormalidades Congênitas/prevenção & controle , Política de Saúde , Prevenção Primária/métodos , Doenças Raras , Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/etiologia , Anormalidades Congênitas/genética , Dieta , Poluição Ambiental/prevenção & controle , Europa (Continente)/epidemiologia , União Europeia , Prática Clínica Baseada em Evidências , Feminino , Ácido Fólico , Humanos , Estilo de Vida , Masculino , Fenômenos Fisiológicos da Nutrição , Obesidade/complicações , Obesidade/prevenção & controle , Guias de Prática Clínica como Assunto , Cuidado Pré-Concepcional , Gravidez , Fatores de Risco , Gestão de Riscos , Teratogênios
8.
Biofactors ; 37(4): 280-4, 2011 Jul-Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21915935

RESUMO

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.


Assuntos
Suplementos Nutricionais , Ácido Fólico/administração & dosagem , Feminino , Alimentos Fortificados , Humanos , Defeitos do Tubo Neural/prevenção & controle , Gravidez , Prevenção Primária
9.
Paediatr Perinat Epidemiol ; 22(3): 249-60, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-18426520

RESUMO

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).


Assuntos
Criptorquidismo/etiologia , Dieta , Contaminação de Alimentos , Hipospadia/etiologia , Exposição Materna/efeitos adversos , Agricultura , Criptorquidismo/epidemiologia , Disruptores Endócrinos/toxicidade , Métodos Epidemiológicos , Feminino , Alimentos/classificação , Humanos , Hipospadia/epidemiologia , Masculino , Gravidez , População Rural , Sicília/epidemiologia , Vinho
10.
Ann Ist Super Sanita ; 43(3): 287-94, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17938460

RESUMO

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.


Assuntos
Centros de Controle de Intoxicações/estatística & dados numéricos , Envenenamento/epidemiologia , Adolescente , Adulto , Agroquímicos/envenenamento , Criança , Pré-Escolar , Cosméticos/envenenamento , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Doenças Transmitidas por Alimentos/epidemiologia , Produtos Domésticos/envenenamento , Humanos , Incidência , Lactente , Itália/epidemiologia , Projetos Piloto , Jogos e Brinquedos , Vigilância da População , Drogas Ilícitas/envenenamento
11.
Arch Environ Occup Health ; 61(2): 87-95, 2006 Mar-Apr.
Artigo em Inglês | MEDLINE | ID: mdl-17649960

RESUMO

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.


Assuntos
Sistema Endócrino/fisiopatologia , Exposição Ambiental , Exposição Ocupacional , Neoplasias Testiculares/induzido quimicamente , Adolescente , Adulto , Estudos de Casos e Controles , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Roma , Inquéritos e Questionários , Neoplasias Testiculares/etiologia
12.
Arch Environ Health ; 58(2): 119-24, 2003 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-12899213

RESUMO

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.


Assuntos
Coeficiente de Natalidade/tendências , Poluentes Ambientais/efeitos adversos , Praguicidas/efeitos adversos , Razão de Masculinidade , Feminino , Humanos , Recém-Nascido , Itália/epidemiologia , Masculino , Saúde da População Urbana
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