Abstract Spinal muscular atrophy (SMA) is considered one of the most common autosomal recessive disorders, with an estimated incidence of 1 in 10,000 live births. Testing for SMA has been recommended for inclusion in neonatal screening (NBS) panels since there are several therapies available and there is evidence of greater efficacy when introduced in the pre/early symptomatic phases. In Brazil, the National Neonatal Screening Program tests for six diseases, with a new law issued in 2021 stating that it should incorporate more diseases, including SMA. In the present study, dried blood spot (DBS) samples collected by the Reference Services of Neonatal Screening of RS and SP, to perform the conventional test were also screened for SMA, using real-time PCR, with SALSA MC002 technique. A total of 40,000 samples were analyzed, enabling the identification of four positive cases of SMA, that were confirmed by MLPA. Considering our sampling, Brazil seems to have an incidence comparable to the described in other regions. This work demonstrated that the use of the MC002 technique in samples routinely collected for the conventional NBS program is suitable to screen for SMA in our conditions and can be included in the expansion of the neonatal screening programs.

INTRODUCTION. The incidence of cancer among residents in sites contaminated by pollutants with a possible health impact is not adequately studied. In Italy, SENTIERI Project (Epidemiological study of residents in National Priority Contaminated Sites, NPCSs) was implemented to study major health outcomes for residents in 44 NPCSs. METHODS. The Italian Association of Cancer Registries (AIRTUM) records cancer incidence in 23 NPCSs. For each NPCSs, the incidence of all malignant cancers combined and 35 cancer sites (coded according to ICD-10), was analysed (1996-2005). The observed cases were compared to the expected based on age (5-year period,18 classes), gender, calendar period (1996-2000; 2001-2005), geographical area (North-Centre and Centre-South) and cancer sites specific rates. Standardized Incidence Ratios (SIR) with 90% Confidence Intervals were computed. RESULTS. In both genders an excess was observed for overall cancer incidence (9% in men and 7% in women) as well as for specific cancer sites (colon and rectum, liver, gallbladder, pancreas, lung, skin melanoma, bladder and Non Hodgkin lymphoma). Deficits were observed for gastric cancer in both genders, chronic lymphoid leukemia (men), malignant thyroid neoplasms, corpus uteri and connective and soft-tissue tumours and sarcomas (women). DISCUSSION. This report is, to our knowledge, the first one on cancer risk of residents in NPCSs. The study, although not aiming to estimate the cancer burden attributable to the environment as compared to occupation or life-style, supports the credibility of an etiologic role of environmental exposures in contaminated sites. Ongoing analyses focus on the interpretation of risk factors for excesses of specific cancer types overall and in specific NPCSs in relation to the presence of carcinogenic pollutants.

INTRODUCTION: A neighbourhood of the city of Ferrara (Italy) was built over an area polluted with chlorinated organic compounds. A residential cohort study was performed to assess the health profile of the population living in the polluted area. METHODS: The residential history of 3475 subjects who had lived in the East quadrant neighbourhood in the period 1994-2010 was constructed. Mortality for the period 19942010 and cancer incidence for the years 1994-2007 were studied. Standardised mortality ratios (SMR) for 2632 subjects and standardised incidence ratios (SIR) for 2578 subjects who had lived for at least 5 years in the area under study were calculated. Indicators were calculated for males and females combined, using the population of Ferrara as reference population. RESULTS: The health profile of the population of the East quadrant neighbourhood, defined using mortality indicators for major groups of causes, is essentially similar to that of the city of Ferrara. Increased mortality rates for lung cancer (SMR 131, 90% CI 94-178) and incidence rates for some cancer sites, including liver (SIR 135, 90% CI 67-243) were observed, albeit on the basis of few cases and with wide confidence intervals. DISCUSSION: The likelihood of observing significant increases in risk is reduced by the sizes of the cohorts and the short follow-up period, but some findings nonetheless suggest that, as a precautionary measure, the cohort study should be continued in parallel with measures for the reclamation of the site and that this study should take the form of epidemiological surveillance.

INTRODUCTION. A method to select populations living in areas affected by diffuse environmental contamination is presented, with particular regard to oil refineries, in the Italian context. The reasons to use municipality instead of census tract populations for environment and health small-area studies of contaminated sites are discussed. METHODS. Populations most affected by diffuse environmental contamination are identified through a geoprocessing model. Data from the national census 2001 were used to estimate census tract level populations. A geodatabase was developed using the municipality and census tract layers provided by the Italian National Bureau of Statistics (ISTAT). The orthophotos of the Italian territory - year 2006 - available on the geographic information systems (GIS) of the National Cartographic Portal, were considered. The area within 2 km from the plant border was used as an operational definition to identify the area at major contamination. RESULTS. The geoprocessing model architecture is presented. The results of its application to the selection of municipality populations in a case study are shown. CONCLUSIONS. The application of the proposed geoprocessing model, the availability of long time series of mortality and morbidity data, and a quali-quantitative estimate of contamination over time, could allow an appraisal of the health status of populations affected by oil refinery emissions.

The present review describes and critically analyzes the main characteristics of deprivation indices (DIs), meant as measures of material and social circumstances at a population level, used to adjust for deprivation in small-area studies of environment and health. A systematic search strategy in the period 1990-2009 was run on PubMed/Medline and Embase databases, and 41 articles were selected. In most of the reviewed studies DIs appear to be pragmatically applied and information is not adequate to evaluate whether the use of DIs is efficient. Suggestions for the use of DIs are given foreseeing that more data on exposure, outcomes and other predictive factors will be acquired, and information will be growingly available to disentangle the complex interplay between exposure, health and deprivation.

La presente rassegna descrive e analizza criticamente le principali caratteristiche degli indici di deprivazione (ID), intesi come indicatori di circostanze materiali e sociali a livello di popolazione, utilizzati negli studi di piccola area su ambiente e salute per aggiustare per deprivazione. E' stata eseguita una strategia di ricerca sistematica sulle basi di dati PubMed/Medline ed Embase per il periodo 1990-2009. Dalla bibliografia risultante sono stati selezionati 41 articoli. Nella maggior parte degli articoli gli ID risultano applicati in modo pragmatico e le informazioni fornite non sono sufficienti per valutare se l'aggiustamento risulti efficiente o meno. Alla luce di quanto emerso vengono forniti suggerimenti per l'uso degli ID, prevedendo che nel prossimo futuro saranno maggiormente disponibili sia i dati sull'esposizione, gli outcome e altri fattori predittivi, che le informazioni per comprendere la complessa interrelazione tra esposizione, salute e deprivazione.