Oral Condition of Adolescents who Participated in an Oral Health Program During the First Decade of Life

Objective: To evaluate the oral health of adolescents who participated in an oral health preventive program during the first decade of life. Material and Methods: For the evaluation of dental caries and gingival condition, DMFT and Community Periodontal Index were used, both recommended by the World Health Organization. To verify the occurrence of dental fluorosis, the Dean index was used. Results: Data collection was obtained from 252 patients aged 12 to 16 years. The average DMFT index was 1.14; in relation to the gingival condition, the index of healthy gingival tissue prevailed and the average of this value was 84%, with code 0 being more registered in tooth 11, code 1, more frequently in teeth 16/17 and 36/37 and for last, code 2, in tooth 31 most frequently. Dean\u27s index showed a percentage of 89% of patients without clinical signs of dental fluorosis. Conclusion: Adolescents participating in an oral health preventive program in the first decade of life exhibited very satisfactory results regarding the prevention of caries disease, healthy periodontal condition and reduced prevalence of dental fluorosis

Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome

Shwachman–Diamond syndrome (SDS) is caused by mutations in the SBDS gene, most of which are the result of gene conversion events involving its highly homologous pseudogene SBDSP. Here we describe the molecular characterization of the first documented gross deletion in the SBDS gene, in a 4-year-old Portuguese girl with SDS. The clinical diagnosis was based on the presence of hematological symptoms (severe anemia and cyclic neutropenia), pancreatic exocrine insufficiency and skeletal abnormalities. Routine molecular screening revealed heterozygosity for the common splicing mutation c.258+2T>C, and a further step-wise approach led to the detection of a large deletion encompassing exon 3, the endpoints of which were subsequently delineated at the gDNA level. This novel mutation (c.258+374_459+250del), predictably giving rise to an internally deleted polypeptide (p.Ile87_Gln153del), appears to have arisen from an excision event mediated by AluSx elements which are present in introns 2 and 3. Our case illustrates the importance of including gross deletion screening in the SDS diagnostic setting, especially in cases where only one deleterious mutation is detected by routine screening methods. In particular, deletional rearrangements involving exon 3 should be considered, since Alu sequences are known to be an important cause of recurrent mutations

Crescimento urbano de Ouro Preto-MG entre 1950 e 2004 e atuais tend?ncias.

A partir de 1950 o munic?pio de Ouro Preto - MG, que at? ent?o vivia uma fase de decl?nio em fun??o do esgotamento do ouro e a transfer?ncia da capital para Belo Horizonte, iniciou a recupera??o econ?mica impulsionado pela industrializa??o, incentivando o retorno populacional ao munic?pio. A cidade, centro pol?tico, econ?mico e educacional, evoluiu sobre condi??es f?sicas de relevo muito especiais, vales encaixados, encostas ?ngremes e rochas bastante alteradas. A ocupa??o sem planejamento resultou na inobserv?ncia dos m?todos t?cnicos de constru??o e de utiliza??o adequada do meio f?sico. O n?mero de locais para a constru??o s?o reduzidos acarretando em problemas t?picos como ocupa??o irregular de terrenos e em ?reas de risco. O presente trabalho objetivou cartografar as dire??es dos movimentos populacionais durante cinco d?cadas numa ?rea de 35 km?. Fotografi as a?reas foram utilizadas para elaborar os mapas da evolu??o da ?rea urbana de Ouro. Os procedimentos indicaram dez ?reas atualmente com tend?ncias a expans?o urbana na cidade. Detectaram-se setores que s?o aptos a expans?o enquanto outros devem ser controlados ou mesmo vetados para a ocupa??o urbana, procurando contribuir com a proposta de zoneamento do Plano Diretor e Lei de Uso e Ocupa??o do Solo do munic?pio.From 1950 the city of Ouro Preto - MG, who until then lived a phase of decline, due to the depletion of gold, started the economic recovery driven by industrialization, encouraging a return to the city population. The city center of political, economic and educational evolved over physical conditions of very special importance, valleys and steep slopes, rocks altered. The occupation without planning resulted in the imprudence of the technical methods of set construction and proper use of the environment. The number of sites for construction are reduced, resulting in typical problems such as illegal occupation of land and in areas of risk. This study aimed to map out the directions of population movements during the fi ve decades that followed the city of Ouro Preto, an area of 35 k?. Aerial photographs were used to produce maps of the urban area of Ouro Preto, landform map and map of mining areas. The procedures indicated ten areas with urban sprawl trends in the city. Were detected sectors that are able to expand while others must be controlled or even banned, trying to contribute to the proposed zoning of the Master Plan and the Law of use and occupation of the city

Prevalence of Autism Spectrum Disorder in the Centro region of Portugal: a population based study of school age children within the ASDEU project

Introduction: Accurate prevalence estimates for Autism Spectrum Disorder (ASD) are fundamental to adequately program medical and educational resources for children. However, estimates vary globally and across Europe, and it is therefore wise to conduct epidemiological studies in defined geo-cultural contexts. Methods: We used a population screening approach to estimate the prevalence of ASD in the Centro region of Portugal, using a harmonized protocol as part of the Autism Spectrum Disorders in the European Union (ASDEU) project. Results: The overall prevalence was estimated at 0.5% (95% CI 0.3-0.7), higher in schools with Autism Units (3.3%, 95%CI 2.7-3.9) than in regular schools (0.3%, 95% CI 0.1-0.5) or schools with Multiple Disability Units (0.3%, 95% CI 0.04-0.6). Discussion: The results indicate that the diagnosis of ASD is followed by the most effective educational policies in Centro Region. The variability in prevalence estimates across the different regions from the ASDEU project, and globally, is discussed.The Autism Spectrum Disorders in the European Union project – ASDEU has been funded by the DG-SANTÉ, European Commission (grant number SANCO/2014/C2/035). This research was supported by national funds from FCT, Fundação para a Ciência e a Tecnologia, I.P. (UIDB/04046/2020 grant to BioISI)info:eu-repo/semantics/publishedVersio

Relevance of Common and Rare CNVs for Autism Etiology

Recent reports by the Autism Genome Project (AGP) consortium and other groups show that Copy Number Variants (CNVs), while individually rare, collectively may explain a large fraction of the etiology of Autism Spectrum Disorders (ASD). The goal of this study was to establish the clinical and etiological relevance for ASD of potentially pathogenic CNVs identified in a Portuguese population sample by whole genome CNV analysis, through the detailed characterization of CNVs and correlation with clinical phenotypes. Analysis of the Autism Genome Project genome-wide CNV results using 1M SNP microarray1 identified a total of 14218 CNVs in 342 Portuguese probands. We selected 292 CNVs, present in 191 individuals (19 females and 172 males), using the following criteria: 1) CNVs that contained implicated/candidate genes for ASD; 2) CNVs in genomic regions known to be implicated/candidate for ASD; 3) CNVs containing genes associated with syndromes with ASD symptoms; and 4) high confidence CNVs that did not overlap more than 20% with controls in available databases. We explored recurrence rates, genic content, regulatory elements, inheritance patterns and clinical correlationsThis work was supported by the fellowships SFRH/BPD/74739/2010 to ICC, SFRH/BPD/64281/2009 to CC and SFRH/BD/79081/2011 to BO from Fundação para a Ciência e a Tecnologia (FCT; Portugal)

CNV Characterization, Inheritance and Phenotypic Correlations in Families With Autism

Autism Spectrum Disorders (ASD) have a strong genetic component, with an estimated heritability of over 90%1. Recent studies carried out by the Autism Genome Project (AGP) consortium suggest that rare Copy Number Variants (CNVs), characterized by submicroscopic chromosomal deletions and duplications, are more frequent in ASD compared to controls, and may play an important role in susceptibility to this disorder2. However, to adequately assess pathogenicity, a detailed characterization of patients CNVs and phenotype is required. The goal of this study was to establish the clinical and etiological relevance for ASD of potentially pathogenic CNVs identified in a Portuguese population sample by whole genome CNV analysis, through the detailed characterization of CNVs and correlation with clinical phenotypes. Analysis of the AGP genome-wide CNV results using 1M SNP microarray2 identified a total of 14218 CNVs in 342 Portuguese probands. We selected 291 CNVs, present in 191 individuals (19 females and 172 males), using the following criteria: 1) CNVs that contained implicated/candidate genes for ASD; 2) CNVs in genomic regions known to be implicated/candidate for ASD; 3) CNVs in regions associated with syndromes with ASD symptoms; and 4) high confidence CNVs that did not overlap more than 20% with controls in available databases. We explored recurrence rates, genic content, regulatory elements, inheritance patterns and phenotypic correlations.This work was supported by the fellowships SFRH/BPD/74739/2010 to ICC, SFRH/BPD/64281/2009 to CC and SFRH/BD/79081/2011 to BO from Fundação para a Ciência e a Tecnologia (Portugal)

Phenotypic categorization of putative pathogenic CNVs in a population of Autism Spectrum Disorder patients

All individuals in this study signed an informed consent.This work was supported by the fellowships SFRH/BPD/74739/2010 to ICC, SFRH/BPD/64281/2009 to CC and SFRH/BD/79081/2011 to BO from Fundação para a Ciência e a Tecnologia (Portugal)

Prevalence of Autism Spectrum Disorder in the Centro region of Portugal: a population based study of school age children within the ASDEU project

Introduction: Accurate prevalence estimates for Autism Spectrum Disorder (ASD) are fundamental to adequately program medical and educational resources for children. However, estimates vary globally and across Europe, and it is therefore wise to conduct epidemiological studies in defined geo-cultural contexts. Methods: We used a population screening approach to estimate the prevalence of ASD in the Centro region of Portugal, using a harmonized protocol as part of the Autism Spectrum Disorders in the European Union (ASDEU) project. Results: The overall prevalence was estimated at 0.5% (95% CI 0.3-0.7), higher in schools with Autism Units (3.3%, 95%CI 2.7-3.9) than in regular schools (0.3%, 95% CI 0.1-0.5) or schools with Multiple Disability Units (0.3%, 95% CI 0.04-0.6). Discussion: The results indicate that the diagnosis of ASD is followed by the most effective educational policies in Centro Region. The variability in prevalence estimates across the different regions from the ASDEU project, and globally, is discussed.The Autism Spectrum Disorders in the European Union project – ASDEU has been funded by the DG-SANTÉ, European Commission (grant number SANCO/2014/C2/035). This research was supported by national funds from FCT, Fundação para a Ciência e a Tecnologia, I.P. (UIDB/04046/2020 grant to BioISI).S

Evidence for an association of prenatal exposure to particulate matter with clinical severity of Autism Spectrum Disorder

Early-life exposure to air pollutants, including ozone (O3), particulate matter (PM2.5 or PM10, depending on diameter of particles), nitrogen dioxide (NO2) and sulfur dioxide (SO2) has been suggested to contribute to the etiology of Autism Spectrum Disorder (ASD). In this study, we used air quality monitoring data to examine whether mothers of children with ASD were exposed to high levels of air pollutants during critical periods of pregnancy, and if higher exposure levels may lead to a higher clinical severity in their offspring. We used public data from the Portuguese Environment Agency to estimate exposure to these pollutants during the first, second and third trimesters of pregnancy, full pregnancy and first year of life of the child, for 217 subjects with ASD born between 2003 and 2016. These subjects were stratified in two subgroups according to clinical severity, as defined by the Autism Diagnostic Observational Schedule (ADOS). For all time periods, the average levels of PM2.5, PM10 and NO2 to which the subjects were exposed were within the admissible levels defined by the European Union. However, a fraction of these subjects showed exposure to levels of PM2.5 and PM10 above the admissible threshold. A higher clinical severity was associated with higher exposure to PM2.5 (p = 0.001), NO2 (p = 0.011) and PM10 (p = 0.041) during the first trimester of pregnancy, when compared with milder clinical severity. After logistic regression, associations with higher clinical severity were identified for PM2.5 exposure during the first trimester (p = 0.002; OR = 1.14, 95%CI: 1.05–1.23) and full pregnancy (p = 0.04; OR = 1.07, 95%CI: 1.00–1.15) and for PM10 (p = 0.02; OR = 1.07, 95%CI: 1.01–1.14) exposure during the third trimester. Exposure to PM is known to elicit neuropathological mechanisms associated with ASD, including neuroinflammation, mitochondrial disruptions, oxidative stress and epigenetic changes. These results offer new insights on the impact of earlylife exposure to PM in ASD clinical severity.This work was supported by Fundaçao ˜ para a Ciˆencia e a Tecnologia (FCT), through funding to the project “Gene-environment interactions in Autism Spectrum Disorder” (Grant PTDC/MED-OUT/28937/2017) and to Research Center Grants UIDB/04046/2020 and UIDP/04046/2020 (to BioISI) and UIDB/00006/2020 (to Centro de Estatística e Aplicaçoes ˜ da Universidade de Lisboa). Joao ˜ Xavier Santos is a fellow of the BioSys PhD Program and an awardee of a scholarship funded by FCT with reference PD/BD/114,386/2016.info:eu-repo/semantics/publishedVersio