Risk assessment of PM2.5 to child residents in Brazilian Amazon region with biofuel production

Background: Exposure to fine fractions of particulate matter (PM2.5) is associated with increased hospital admissions and mortality for respiratory and cardiovascular disease in children and the elderly. This study aims to estimate the toxicological risk of PM2.5 from biomass burning in children and adolescents between the age of 6 and 14 in Tangara da Serra, a municipality of Subequatorial Brazilian Amazon. Methods: Risk assessment methodology was applied to estimate the risk quotient in two scenarios of exposure according to local seasonality. The potential dose of PM2.5 was estimated using the Monte Carlo simulation, stratifying the population by age, gender, asthma and Body Mass Index (BMI). Results: Male asthmatic children under the age of 8 at normal body rate had the highest risk quotient among the subgroups. The general potential average dose of PM2.5 was 1.95 mu g/kg.day (95% CI: 1.62 - 2.27) during the dry scenario and 0.32 mu g/kg. day (95% CI: 0.29 - 0.34) in the rainy scenario. During the dry season, children and adolescents showed a toxicological risk to PM2.5 of 2.07 mu g/kg. day (95% CI: 1.85 - 2.30). Conclusions: Children and adolescents living in the Subequatorial Brazilian Amazon region were exposed to high levels of PM2.5 resulting in toxicological risk for this multi-pollutant. The toxicological risk quotients of children in this region were comparable or higher to children living in metropolitan regions with PM2.5 air pollution above the recommended limits to human health.

Subgroup-specific structural variation across 1,000 medulloblastoma genomes

Medulloblastoma, the most common malignant paediatric brain tumour, is currently treated with nonspecific cytotoxic therapies including surgery, whole-brain radiation, and aggressive chemotherapy. As medulloblastoma exhibits marked intertumoural heterogeneity, with at least four distinct molecular variants, previous attempts to identify targets for therapy have been underpowered because of small samples sizes. Here we report somatic copy number aberrations (SCNAs) in 1,087 unique medulloblastomas. SCNAs are common in medulloblastoma, and are predominantly subgroup-enriched. The most common region of focal copy number gain is a tandem duplication of SNCAIP, a gene associated with Parkinson's disease, which is exquisitely restricted to Group 4 alpha. Recurrent translocations of PVT1, including PVT1-MYC and PVT1-NDRG1, that arise through chromothripsis are restricted to Group 3. Numerous targetable SCNAs, including recurrent events targeting TGF-beta signalling in Group 3, and NF-kappa B signalling in Group 4, suggest future avenues for rational, targeted therapy.

Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome

Most patients with Kabuki syndrome (KS) are the only person in their family with the condition. However, familial cases of KS have been described showing evidence that this syndrome can be inherited as a dominant trait with variable expressivity. We report on two related individuals with facial findings characteristic of KS. The proposita had arched eyebrows, long and upward slanting palpebral fissures, cleft lip and palate, retromicrognathia, brachydactyly of hands and feet, stubby fingers, nail hypoplasia, and prominent finger pads. Her mother had eyebrows with dispersed lateral half, long and upward slanting palpebral fissures, retrognathia, abnormal and posteriorly rotated ears, prominent finger pads, brachydactyly of feet, learning difficulties, and psychomotor development delay. DNA sequencing revealed a novel missense mutation in the MLL2 gene in both the proposita and her mother. The mutation (p.R5432Q) was found in the exon 51, within the SET domain of the gene, which confers methyltransferase activity on the protein. Therefore, the epigenetic and transcriptional regulatory properties of this protein may be altered and this suggests that the mutation is the cause of phenotype observed in both the patient and her mother. The clinical signs and the molecular evidence in this family further support the notion that KS is an autosomal dominant condition with variable expressivity. To our knowledge this is the first report of a Brazilian family with recurrence of this syndrome. (C) 2012 Wiley Periodicals, Inc.

Mapeamento de solos e da produtividade de plantações de Eucalyptus grandis, com uso de sistema de informação geográfica

Detailed environmental land characterization is essential for technical and financial planning, for both the scientific point of view and technological application. This work aimed at the physiographic and pedological characterization and eucalyptus productivity mapping at Itatinga Forest Sciences Experimental Station (southeastern Brazil), using geographic information systems in order to identify possible cause-effect relationships between forest productivity and soil attributes. The digital cartographic dataset was structured as follows: as primary source of data, aerial photograph and field survey were used and, as a secondary source, topographical, geological and land use occupation maps were used. For mapping wood productivity at age six (MAI6, Mean Annual Increment), inventory data of permanent plots (same species, provenance and age) were used, which were obtained from Eucalyptus grandis plantations. Using simple linear correlation and backward stepwise multiple regression analysis, the dependent variable (MAI) was related with physical and chemical characteristics of the soils. Two standards of contour curves were identified, one with close curves, narrow and surrounding the drainage network, in the steeper and lower altitude areas; the other, with spaced contour lines, in the areas of higher altitude and with plane relief. Six types of soils were characterized as being highly related to the physiographic patterns of the area: loamy sandy to sandy clayey Typic Hapludox (LVAd, 47.5%), clayey Rhodic Hapludox (LVd1, 33.4%), sandy clay Rhodic Hapludox (LVd2, 6%), clayey Rhodic Hapludox (LVdf, 9.1%), Entisols (G, 3.4%) and Fluvents soil (RY, 0.6%). There were large variations in wood productivity in the Eucalyptus grandis plantations, characterized in six classes, ranging from 26 to 52 m(3) ha(-1) yr(-1). These productivity changes were strictly related to soil mapping units. Through multiple regression analysis, we found that clay and organic matter contents were the attributes which most strongly explained the productivity differences.

Influence of adenotonsillectomy on hard palate dimensions

Objective: To evaluate hard palate width and height in mouth-breathing children pre- and post-adenotonsillectomy. Methods: We evaluated 44 children in the 3-6 year age bracket, using dental study casts in order to determine palatal height, intercanine width, and intermolar width. The children were divided into two groups: nasal breathing (n = 15) and mouth breathing (n = 29). The children in the latter group underwent adenotonsillectomy. The study casts were obtained prior to adenotonsillectomy, designated time point 1(11), at 13 months after adenotonsillectomy (T2), and at 28 months after adenotonsillectomy (13). Similar periods of observation were obtained for nasal breathing children. Results: At T1, there was a significantly lower intercanine width in mouth breathing children; intermolar width and palate height were similar between groups. After surgery, there was a significant increase in all the analyzed parameters in both groups, probably due to facial growth. Instead, the increase in intercanine width was substantially more prominent in mouth breathing children than in nasal breathing children, and the former difference failed in significance after the procedure. Conclusions: There were no significant differences between the nasal-breathing and mouth-breathing children in terms of intermolar width and palatal height prior to or after tonsillectomy. Although intercanine width was initially narrower in the mouth-breathing children, it showed normalization after the surgical procedure. These results confirm that the restoration of nasal breathing is central to proper occlusal development. (C) 2012 Elsevier Ireland Ltd. All rights reserved.

Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative

Patients with rare and complex diseases such as congenital adrenal hyperplasia (CAH) often receive fragmented and inadequate care unless efforts are coordinated among providers. Translating the concepts of the medical home and comprehensive health care for individuals with CAH offers many benefits for the affected individuals and their families. This manuscript represents the recommendations of a 1.5 day meeting held in September 2009 to discuss the ideal goals for comprehensive care centers for newborns, infants, children, adolescents, and adults with CAH. Participants included pediatric endocrinologists, internal medicine and reproductive endocrinologists, pediatric urologists, pediatric surgeons, psychologists, and pediatric endocrine nurse educators. One unique aspect of this meeting was the active participation of individuals personally affected by CAH as patients or parents of patients. Representatives of Health Research and Services Administration (HRSA), New York-Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC), and National Newborn Screening and Genetics Resource Center (NNSGRC) also participated. Thus, this document should serve as a "roadmap" for the development phases of comprehensive care centers (CCC) for individuals and families affected by CAH.

Using X rays to evaluate fissures in rice seeds dried artificially

The objective of the present study was to evaluate the efficiency of X-rays in identifying fissures in artificially dried rice seeds and the relationship between damage and seed performance in the germination test. Irrigated rice seeds of the IRGA 417 and IRGA 420 cultivars were harvested with 23.3 and 24.5% water content respectively and submitted to stationary drying treatments at 32, 38, 44 and 50 °C. X-rays were taken of subsamples of 100 seeds for each treatment, using an MX-20 X-ray equipment. The X-rayed seeds were classified from 1 to 3, where 1 corresponded to seeds without fissures, 2 to seeds with non-severe fissures and 3 to seeds with severe fissures. The same X-rayed seeds were planted and on the seventh day the seedlings (normal or abnormal) and dead seeds were photographed and evaluated to verify any relationship between the fissures and physiological potential. Higher drying temperature increased the percentage of fissures in the two cultivars, which can adversely affect their germination. Seeds with fissures can be identified using X-rays.

Variação do diâmetro da artéria braquial em crianças obesas: presente e futuro

OBJETIVO: Revisão da literatura acerca do uso da medida da variação do diâmetro da artéria braquial por ultrassonografia de alta resolução (dilatação mediada por fluxo) como preditor de risco para doença cardiovascular em crianças e adolescentes obesos. FONTES DE DADOS: Levantamento de publicações indexadas no Medline/PubMed de trabalhos publicados entre 2002 e 2011, rastreadas com a combinação dos descritores: "endothelium", "child", "ultrasonography" e "obesity", além de estudos e textos clássicos sobre o tema. Foram encontradas 54 publicações e 32 delas foram incluídas na presente revisão do tema. SINTESE DOS DADOS: O estudo da disfunção endotelial tem sido empregado como preditor de risco para doenças cardiovasculares, tais como aterosclerose e doença cardíaca coronariana, visto que a lesão endotelial é um importante evento na fisiopatologia de tais doenças. CONCLUSÕES: A dilatação mediada por fluxo da artéria braquial mostra-se importante como ferramenta diagnóstica e prognóstica na avaliação da função endotelial de crianças e adolescentes com excesso de peso por ser um método não invasivo, com boa aplicabilidade quanto ao custo, à inocuidade e ao benefício.

Análise da narrativa oral de pré-escolares antes e após estimulação de linguagem

OBJETIVO: Verificar as habilidades de narrativa oral em pré-escolares, antes e após estimulação de linguagem. MÉTODOS: Foram analisadas narrativas de 58 pré-escolares. O estudo foi desenvolvido em três etapas: 1. Etapa pré-estimulação (Momento 1) - os pré-escolares produziram a primeira narrativa autônoma a partir de uma sequência de figuras e a segunda narrativa autônoma após tutela do adulto; 2. Etapa de estimulação - foi realizada a leitura de histórias infantis em grupo, semanalmente, durante dez semanas; 3. Etapa pós-estimulação (Momento 2) - foi repetido o procedimento da primeira etapa. A análise dos resultados considerou: a ocorrência de eventos centrais e secundários; a conduta justificativa/explicativa, classificada segundo causas físicas, regras morais/sociais e estado interno; a expressão e retificação de falsas crenças, analisadas por meio da conduta justificativa/explicativa de estado interno. RESULTADOS: Houve aumento na ocorrência de eventos centrais no Momento 2, e após a tutela, com decréscimo de eventos secundários comparando-se os dois momentos e a presença da tutela. Em relação à conduta justificativa/explicativa, não houve diferenças para as justificativas do tipo físico, regras sociais/morais e estado interno. A conduta justificativa/explicativa do tipo estado interno foi a tipologia predominantemente encontrada em todas as narrativas. CONCLUSÃO: A leitura de histórias infantis e a tutela do adulto contribuem para o aumento da ocorrência de eventos nas narrativas autônomas. Não há variação na tipologia da conduta justificativa/explicativa nas narrativas. A tipologia de conduta justificativa/explicativa de estado interno é predominantemente utilizada pelos pré-escolares.