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Ni-Cr-based alloys are known for their high resistances to corrosive environments, high temperatures, and stresses, finding wide application in furnace systems in petrochemical plants. However, very few is known about their solidification features and how they can impact processing and properties. This study investigated the alloy solidification, obtaining a variety of as-cast microstructures in the high-Cr 28Cr48Ni5W3Co14Fe alloy. It presents results of optical, hardness, and CALPHAD analyses in a straightforward examination of solidification according to the application in the cast condition. The directional solidification setup allowed to assess a variety of samples solidified at different cooling rates, and showing different microstructural coarsening. The analyses determined secondary dendritic arm spacings (SDAS) ranging from 16 μm to 120 mm. It was determined the formation of the FCC+M23C6 quasi-eutectic constituent filling the interdendritic. An effective correlation was chosen to compute the corresponding cooling rates. Finally, an in-depth applied analysis of tube-support components for pyrolysis through cast simulation revealed the SDAS variation to be a critical feature in pre-programming casting designs. These findings play a fundamental role in advancing cast operations of heat-resistant alloy components, enhancing both quality and processing setups.

Introdução: Aproximadamente 10% dos casos de câncer de mama são atribuíveis a mutações germinativas em genes de suscetibilidade, incluindo BRCA1 e BRCA2. A National Comprehensive Cancer Network (NCCN) recomenda a triagem de mulheres com câncer de mama para mutações em BRCA1/2 em cenários definidos. No entanto, esses testes genéticos não estão disponíveis no Sistema Único de Saúde (SUS). Objetivo: Caracterizar as mulheres com câncer de mama e definir os critérios para realização do teste BRCA1/2. Método: Estudo quantitativo, descritivo, analítico e retrospectivo. Foram analisados ​​prontuários de mulheres com diagnóstico de câncer de mama pelo SUS entre janeiro de 2016 e dezembro de 2018, por meio do software JAMOVI (versão 2.3 - 2022). Resultados: Foram diagnosticadas 245 mulheres. De acordo com as diretrizes da NCCN, 97 mulheres atenderam aos critérios para realizar o teste BRCA1/2, com idade média de 47 anos, predominantemente brancas (90,7%), com comorbidades (55,6%), na pré-menopausa (59,8%), diagnosticadas nos estágios iniciais 0 - IIb (68, 2%), e 48,4% tinham histórico familiar de câncer de mama. A histologia e o subtipo molecular mais frequentes foram carcinoma ductal invasivo (87,2%) e tipo luminal (59,8%). Conclusão: Considerando os critérios da NCCN, um número significativo de mulheres diagnosticadas pelo SUS teve indicação para realização do teste BRCA1/2. Essas mulheres são mais jovens, têm menos comorbidades, estão em período pré-menopausa mais frequentemente e diferem quanto ao subtipo molecular quando comparadas àquelas sem indicação de realização do exame.

ABSTRACT Objective: The aim of this study was to sum up and characterize all Williams-Beuren syndrome cases diagnosed by fluorescence in situ hybridization (FISH) since its implementation, as well as to discuss FISH as a cost-effective methodology in developing countries. Data source: From January 1986 to January 2022, articles were selected using the databases in PubMed (Medline) and SciELO. The following terms were used: Williams syndrome and In Situ Hybridization, Fluorescence. Inclusion criteria included Williams-Beuren syndrome cases diagnosed by FISH with a stratified phenotype of each patient. Only studies written in English, Spanish, and Portuguese were included. Studies with overlapping syndromes or genetic conditions were excluded. Data synthesis After screening, 64 articles were included. A total of 205 individuals with Williams-Beuren syndrome diagnosed by FISH were included and further analyzed. Cardiovascular malformations were the most frequent finding (85.4%). Supravalvular aortic stenosis (62.4%) and pulmonary stenosis (30.7%) were the main cardiac alterations described. Conclusions: Our literature review reinforces that cardiac features may be the key to early diagnosis in Williams-Beuren syndrome patients. In addition, FISH may be the best diagnostic tool for developing nations that have limited access to new technologic resources.

O objetivo deste artigo é analisar a fórmula editorial da Revista Escolar (1925-1927), financiada pela Diretoria Geral de Instrução Pública de São Paulo, para compreender os deslocamentos do modelo de leitura e de formação debitária da reconfiguração dos debates educacionais, na década de 1920, empreendidos pela e na comunidade imaginada dos educadores paulistas. Conclui-se que a Revista fazia circular divergências sobre a política educacional e convergências sobre a política sanitária em São Paulo.

A atividade pecuária no Brasil é basicamente representada pelo sistema pastoril. No entanto as adversidades edafoclimáticas promovem uma falta de uniformidade na oferta e qualidade de forragem, acarretando na maior intensificação dos sistemas de produção. A busca por alternativas de alimentação visando à melhoria no desempenho animal, tem sido objeto de muitas pesquisas, como o uso de forrageiras adaptadas a determinadas condições ambientais. Geralmente, estas plantas podem apresentar compostos que alteram a produção animal, seja positiva ou negativamente. Dentre estes compostos, destacam-se os taninos condensados (TC) que são compostos polifenólicos oriundos do metabolismo secundário das plantas. Em concentrações elevadas (6 a 12 % da matéria seca (MS)) eles reduzem a palatabilidade, o consumo, atividade enzimática, digestibilidade de proteínas e carboidratos, e consequentemente reduzem o desempenho animal. Porém, quando esse consumo é médio ou baixo (2 a 5 % da MS), permite uma eficiência na utilização da proteína dietética, formando complexos através de ligações de hidrogênio, assim, acaba protegendo a proteína da degradação ruminal, aumentando o fluxo de aminoácidos para absorção intestinal. Além de melhorar a eficiência proteica da dieta, pode-se dizer que os TC reduzem a produção de metano, e trazem benefícios no controle de parasitas gastrintestinais, melhora o desempenho reprodutivo, desenvolvimento fetal, a resposta do sistema imunológico, as concentrações séricas de hormônio, a produção de lã e lactação. O uso de plantas com baixa concentração de taninos condensados pode ser uma boa estratégia nutricional para ruminantes, desde que seu mecanismo de ação sobre o metabolismo proteico seja considerado. Esta revisão tem como objetivo, trazer algumas respostas ao uso de TC na alimentação de ruminantes, com o foco nas alterações da fisiologia digestiva do rúmen, que se torna responsável pelas consequências secundárias dos taninos sobre a produção animal.

Objectives: To assess population-based prevalence, risk factors, hospitalization, and infection fatality rates (IFR) associated with COVID-19. Methods: We conducted two household surveys among the non-institutionalized adult population from May 30 to June 17, 2020, in Lajeado, an 84,000-inhabitant industrial city in southern Brazil. Primary outcome was prevalence of SARS-CoV-2 infection. Secondary outcomes were COVID-19-related hospitalizations and deaths occurring up to June 20, 2020. We summarized prevalence rates across surveys with meta-analysis. We assessed age-range IFR and hospitalization rate and regressed these rates over age strata using nonlinear (exponential) coefficients of determination (R2). Results: Summarized overall prevalence was 3.40% (95% CI, 2.74–4.18), 34% lower in older adults ≥60 years. Prevalence was 14.3 and 5.4 times higher among household contacts and meat-precessing plant (MPP) workers, respectively. IFR ranged from 0.08% (0.06–0.11) to 4.63% (2.93–7.84) in individuals 20–39 years and ≥60 years, respectively. R2 for hospitalization rate and IFR over age were 0.98 and 0.93 (both p-values

Este artigo reporta uma experiência acadêmica que teve lugar durante o segundo semestre letivo de 2018, na disciplina Introdução à Linguística, obrigatória para o curso de Graduação em Letras da Universidade Federal do Rio de Janeiro (UFRJ). Durante parte da disciplina, implementamos uma atividade inspirada no método Aprendizagem Baseada em Projeto (PBL – Project-Based Learning), para abordarmos um item do conteúdo programático: a Hipótese Sapir-Whorf (HSW). A HSW tem duas premissas básicas: (i) A língua que falamos e pensamos molda a maneira como percebemos o mundo; (ii) a existência de vários sistemas de linguagem implica que as pessoas que pensam nessas diferentes línguas devem perceber o mundo de forma diferente. Utilizando a estrutura da PBL, os alunos montaram um experimento envolvendo 22 falantes nativos de russo e português para verificar a versão forte da HBS. O experimento, embora com pequeno número de participantes e uma metodologia básica, seus achados nos permitiram observar que a avaliação dos pressupostos da HSW não podem ser descartados e merecem permanecer em uma agenda de pesquisa que se interesse em olhar para os fenômenos linguísticos de forma mais abrangente e menos dogmática.

A avaliação do comportamento ingestivo de animais ruminantes é importante para identificar a resposta animal frente às particularidades dos diferentes sistemas de produção. Entretanto, a técnica de avaliação usualmente utilizada, com intervalos de cinco minutos, requer mão de obra, dificultando sua adesão em propriedades e em pesquisas em sistemas pastoris de maior complexidade. Assim, este estudo foi realizado com os objetivos de avaliar a influência dos sistemas de produção em pastagem, silvipastoril e confinamento sobre o comportamento ingestivo de cordeiros e definir o intervalo de registro do comportamento em cada um dos sistemas. Foram utilizados 24 cordeiros distribuídos em delineamento experimental em parcelas subdivididas, sendo as parcelas os sistemas de produção (pastagem sem sombreamento, sistema silvipastoril e confinamento) e as subparcelas os intervalos de observação do comportamento (5, 10, 15 e 20 min.). Nos sistemas em pastagem sem sombreamento e silvipastoril, os cordeiros permaneceram em pastagem de capim Aruana (Megathyrsus maximus) e foram suplementados com concentrado a 1,5% do peso corporal ao dia em base de matéria seca (MS). No sistema em confinamento, os cordeiros receberam ração composta por 200 g kg MS -1 de feno de azevém anual (Lolium multiflorum Lam.) e 800 g kg MS-1 de concentrado. Não houve interação (P > 0,05) entre sistema de produção e intervalo de registro das atividades comportamentais. O tempo despendido para a ingestão de alimento foi maior (P < 0,05) no sistema de pastagem (533 min d-1) e silvipastoril (513 min d-1) em relação ao confinamento (225 min d-1), enquanto que para ingestão de água foi maior (P < 0,05) no confinamento (21 min d-1) e menor no silvipastoril (5 min d-1). Não houve diferença (P > 0,05) entre os sistemas para as atividades de ruminação e ócio, cujas médias diárias foram de 378 e 587 min d-1, respectivamente. Também não houve diferença (P > 0,05) entre os intervalos de observação para as atividades de ingestão de alimento, água, ruminação e ócio. Cordeiros em sistemas à base de pastagem gastam mais tempo se alimentando, e cordeiros confinados mais tempo ingerindo água. Cordeiros confinados ruminam tanto quanto animais em pastejo quando alimentados com feno, mesmo que este represente apenas 20% da dieta total. O intervalo de registro das atividades comportamentais nestes sistemas de produção pode ser de até 20 minutos.

Five years after the identification of Zika virus as a human teratogen, we reviewed the early clinical manifestations, collectively called congenital Zika syndrome (CZS). Children with CZS have a very poor prognosis with extremely low performance in motor, cognitive, and language development domains, and practically all feature severe forms of cerebral palsy. However, these manifestations are the tip of the iceberg, with some children presenting milder forms of deficits. Additionally, neurodevelopment can be in the normal range in the majority of the non-microcephalic children born without brain or eye abnormalities. Vertical transmission and the resulting disruption in development of the brain are much less frequent when maternal infection occurs in the second half of the pregnancy. Experimental studies have alerted to the possibility of other behavioral outcomes both in prenatally infected children and in postnatal and adult infections. Cofactors play a vital role in the development of CZS and involve genetic, environmental, nutritional, and social determinants leading to the asymmetric distribution of cases. Some of these social variables also limit access to multidisciplinary professional treatment.

ABSTRACT Training in genetics is fundamental to understanding the biological aspects of the health-disease binomial. Moreover, with the change in the epidemiological profile, genetically determined disorders have become more relevant as a public health concern. Thus, managing these disorders in an ethical and diligent manner, both in patients and in their families, and considering the logic and policies of the Brazilian Unified Health System (SUS), has become a desirable competency for all physicians, impacting on their undergraduate training. Viewing this issue as relevant, the Brazilian Society of Medical Genetics and Genomics (SBGM) defined the desirable competencies in genetics for Brazilian physicians, tied to the public policies related to medical genetics in Brazil. This paper is a theoretical essay that aims to contextualize and present the competency profile in Genetics for physicians proposed by the SBGM. The proficiency profile, presented and discussed in this essay, was structured based on four essential competencies: (1) to recognise the necessity for continuing education, regularly examining one’s own clinical competency, identifying learning gaps and the advances of genetics and of genomics over time; (2) to identify individuals that present or can develop a genetic disorder and know how and when to refer the patient to a specialist in medical genetics; (3) to manage patients with previously diagnosed genetic disorders and/or birth defects, employing established clinical guidelines in the scope of their professional role; and (4) to promote and stimulate clinical and education practices aimed at preventing genetic disorders and birth defects. The knowledge, skills and attitudes required for attaining these four competencies were identified. Therefore, a competency-based theoretical reference is presented to support the teaching of genetics during medical training. It is proposed that this essential competency profile in genetics should be adopted in all Brazilian medical schools with the purpose of training physicians better prepared for the current demands of the SUS. Furthermore, this competency profile can support continuing professional education actions in the area of Genetics, in order to qualify SUS staff in relation to genetic disorders and birth defects.

Abstract SARS-CoV-2 virus was first identified in the beginning of 2020 and has spread all over the world, causing the Coronavirus Disease 2019 (COVID-19) pandemic. The virus is a member of the Coronavirus family, which includes viruses that cause common cold, Middle East Respiratory Syndrome (MERS) and Severe Acute Respiratory Syndrome (SARS). MERS and SARS are known by causing adverse events in pregnancy. Considering that SARS-CoV-2 is a new infection agent, little is known about the risk of its infection to human embryo/fetal development. However, SARS and MERS were associated with negative outcomes, such as miscarriage, preterm birth, intrauterine growth restriction and perinatal death. Here, we raise concerns and possibilities related the harmful potential of SARS-CoV-2 and COVID-19 to pregnancy, discussing symptoms, immunological changes during pregnancy, SARS-CoV-2 mutation rate (and the risks related to it). Finally, we point out recommendations to be performed by the scientific community and health care workers in order to identify and to manage potential risks to pregnant women and their babies.

Tropical pasture canopy characteristics can alter lamb ingestive behavior. Our study evaluated the ingestive behavior of young lambs in different tropical pastures to identify which variables interfere in their grazing activity. Two years of study were carried out with 54 weaned lambs distributed in three different pasture canopies: 1) monoculture of an upright grass, guinea grass (Panicum maximum; GG); 2) monoculture of a shrubby legume pigeon pea (Cajanus cajan; PP) and 3) contiguous paddock with half GG and half PP (GP). The experiment was set out in a randomized complete block design (3 blocks). Lamb ingestive behavior was observed from sunrise to sunset with records every 5 minutes. To identify the main variables that affected lamb grazing activity, a multivariate analysis of the Decision Tree was performed. Our results showed that there was no difference in the ingestive behavior parameters of young lambs in different canopies (P > 0.05). There was interaction among the canopies and the experimental periods for the variables idleness time and biting rate (P ≤ 0.05). Lambs in all canopies showed more idleness time in the first evaluation period. Lambs in canopies containing grass (GG and GP) exhibited greater bites per minute throughout the experimental period. Lamb grazing time increased 40% as experimental period progressed and plants matured. The Decision Tree identified leaf:stem ratio as the variable that most influenced lamb grazing time in GG and GP canopies while in the PP, grazing time was directly related to canopy height. The behavior of young lambs on tropical pasture is variable as there is a change in the behavioral response to canopy characteristics over time. In addition, the grazing time of these animals can be estimated by means of variables related to canopy structural characteristics (leaf:stem ratio and height) together with chemical variables.

The efficiency of grazing ruminant production systems is directly associated to the animals' ingestive behavior, and to structural characteristics of the pastures. The objective of this study was to evaluate the ingestive behavior of young lambs grazing three different heights of Capim Aruana (Panicum maximum). The experiment was carried out in two consecutive years, in which 30 tester lambs (4–5 months old) were equally divided into three paddocks (treatments) corresponding to different average sward heights of Aruana grass: (1) Tall-75 cm; (2) Medium-50 cm; and (3) Short-25 cm in a randomized block design. Ingestive behavior assessments were carried out every 28 days through 10-min observations of the main activities of the animals (grazing, ruminating, idling) and biting rate, from sunrise to sunset. In addition, the productive and qualitative characteristics of the pastures were assessed. Despite differences in pasture structure, grazing time (GT) and idling time were similar among treatments (P = 0.4266 and P = 0.2939, respectively). The shortest ruminating time (RT, P = 0.0181) was recorded in the treatment of lowest sward height. Lambs grazing on this treatment also showed 23% more bites per minute (P= < 0.0001) than animals in the Tall and Medium treatments. A Decision Tree analysis was performed for GT, identifying in a hierarchical order that the initial weight of the animals and sward height explained 62% (R2 = 0.621) of the variation, representing the variables with the greatest influence on GT. Initial body weight explained 48% of the model. Thus, our research shows that the different sward heights of Capim Aruana mainly alter the lamb's RT and biting rate, and that the animals' initial body weight is a key factor influencing GT, given that this variable makes lambs more susceptible to changes in sward height.

A ciência e tecnologia em nanoescala têm atraído considerável atenção nos últimos anos, pela expectativa do impacto que os materiais nanoestruturados podem causar na melhoria da qualidade de vida. Espera-se que o avanço da nanociência e da nanotecnologia estimule a exploração de novos fenômenos e novas teorias. Neste trabalho foram investigados os principais aspectos envolvidos na modificação da resina epóxi (RE), curada com agente endurecedor poliamida. Nesta matriz epoxídica, incorporados nanopartículas inorgânicas de sílica comercial - R200 (Aerosil). A caracterização das amostras dos sistemas epóxi/poliamida, com e sem adição de nanocarga de sílica foram avaliadas por Termogravimetria (TG), Termogravimetria derivativa (DTG) e análise dinâmica mecânica (DMA). A reometria das amostras constatou que pela determinação do regime de viscoelasticidade linear da matriz epoxídica, verificou-se que a adição de 1% m/m da sílica resultou no aumento da viscosidade da matriz epoxídica, como esperado. Este comportamento sugere que a dispersão resultou na maior interação entre a ER e a carga de sílica, promovido pelo alto cisalhamento durante o procedimento de mistura.

Abstract Congenital anomalies are already the second cause of infant mortality in Brazil, as in many other middle-income countries in Latin America. Birth defects are a result of both genetic and environmental factors, but a multifactorial etiology has been more frequently observed. Here, we address the environmental causes of birth defects – or teratogens – as a public health issue and present their mechanisms of action, categories and their respective maternal-fetal deleterious effects. We also present a survey from 2008 to 2013 of Brazilian cases involving congenital anomalies (annual average of 20,205), fetal deaths (annual average of 1,530), infant hospitalizations (annual average of 82,452), number of deaths of hospitalized infants (annual average of 2,175), and the average cost of hospitalizations (annual cost of $7,758). Moreover, we report on Brazilian cases of teratogenesis due to the recent Zika virus infection, and to the use of misoprostol, thalidomide, alcohol and illicit drugs. Special attention has been given to the Zika virus infection, now proven to be responsible for the microcephaly outbreak in Brazil, with 8,039 cases under investigation (from October 2015 to June 2016). From those cases, 1,616 were confirmed and 324 deaths occurred due to microcephaly complications or alterations on the central nervous system. Congenital anomalies impact life quality and raise costs in specialized care, justifying the classification of teratogens as a public health issue.

Introduction: Microcephaly is a clinical finding that can arise from congenital anomalies or emerge after childbirth. Maternal infections acquired during pregnancy can result in characteristic brain damage in the newborn (NB), which may be visible even in the fetal stage. Objective: To describe the epidemiological profile of newborns with reported microcephaly and diagnosed with congenital infections in the state of Rio Grande do Sul between 2015 and 2017. Method: A cross-sectional study was carried out on data collected from the Public Health Event Registry as well as from medical records. The investigation included serologies for toxoplasmosis and rubella; polymerase chain reaction (PCR) for Zika virus (ZIKV) in the blood and cytomegalovirus in the urine; non-treponemal tests for syphilis; and brain imaging tests. Results: Of the 257 reported cases of microcephaly, 39 were diagnosed with congenital infections. Severe microcephaly was identified in 13 patients (33.3%) and 51.3% of the cases showed alterations in brain imaging tests. In relation to the diagnosis of congenital infections, three patients (7.7%) were diagnosed with ZIKV, nine (23.1%) with cytomegalovirus, nine (23.1%) with toxoplasmosis, and 18 (46.1%) with congenital syphilis. The three cases of ZIKV showed calcification in brain imaging tests, signs of arthrogryposis, excess occipital skin and irritability, characterizing the typical phenotype of ZIKV infection. Conclusion: Most cases of congenital infection had severe neurological lesions, particularly the cases of ZIKV, which can cause neurodevelopmental delays and sequelae in these infants throughout early childhood. Keywords: Microcephaly; Congenital Infection; Zika Virus

Abstract In 1990, the first Teratogen Information Service in Brazil (SIAT) was implemented in the Medical Genetics Service at Hospital de Clinicas de Porto Alegre. SIAT is a free-to-use information service both to health professionals and the general population, especially to women who are pregnant or planning pregnancy. The main objective of this paper is to present the activities of SIAT in its initial years (1990-2006), compared to those in the last decade (2007-2017). In addition we review the scientific contribution of SIAT in the field of human teratogenesis. Since 1990, SIAT received 10,533 calls. Use of medications were the main reason for concern, accounting for 74% of all questions, followed by other chemical exposures (occupational, cosmetics, environmental), and maternal infectious diseases. Among its main contributions to scientific knowledge was the collaboration for the identification of two new human teratogens: misoprostol in the 1990s and Zika virus in 2015/16. In conclusion, SIAT is still evolving, as is the Medical Genetics Service that hosts it. Through its 27 years of existence more than 300 undergraduate and graduate students have rotated at SIAT. Presently, SIAT is expanding the research to experimental teratogenesis and to investigation of molecular mechanisms of teratogens.

One of the tendencies in the floriculture sector, whether in modern landscaping or floral art, is related to the insertion of innovations in the sector, mainly of native origin. For this it is necessary to establish strategies that favor the introduction of these materials. Among the species that present ornamental potential, Rhaphiodon echinus Schauer has been outstanding for groundcover; however it is necessary to establish the proper propagation protocol for the species. In this sense, the objective was to evaluate the vegetative propagation process of this species considering the period of cutting in rooting, cuttings arrangement and IBA concentrations for seedlings production. The experiment was carried out in a sub-split plots scheme with the period of cutting in rooting in the plots (30 and 60 days), the cuttings arrangement (horizontal and vertical) in the subplots and the IBA concentrations (0; 1,000; 2,000 and 4,000 ppm) in sub-subplots. The following variables were evaluated: survival cuttings, percentage of rooted cuttings, number of sprouts per cuttings, average length of the largest root, root volume, shoot dry biomass and root dry biomass. There was a significant interaction between the period of cutting in rooting and the cuttings arrangement for survival cuttings and rooted cuttings; between the period of cutting in rooting and the concentration of IBA for shoot dry and between the cuttings arrangement and concentration and IBA for the percentage of rooted cuttings, number of sprouts per cuttings and root dry biomass. For average length of the largest root and root volume there was a significant effect for period of cutting in rooting and IBA concentrations individually. The period of cutting in rooting of 30 days is the most suitable for rooting the cuttings. In relation of the cuttings arrangement the most indicated is vertical. Finally, the concentration of 1,000 ppm of IBA can be indicated for the propagation of R. echinus by the cutting process.

OBJETIVO: Descrever a prevalência das malformações encontradas nos fetos com trissomia dos cromossomos 13, 18 e 21, identificando as mais frequentes em cada condição. MÉTODOS: Estudo transversal retrospectivo, com análise dos casos de trissomias dos cromossomos 13, 18 e 21 que foram diagnosticados pelo cariótipo fetal obtido por amniocentese/cordocentese, entre outubro de 1994 e maio de 2014, em um Hospital de Ensino da região Sul do Brasil. Foram descritas as malformações identificadas no exame ultrassonográfico morfológico e, posteriormente, confirmadas em exames do recém-nascido e/ou por necropsia fetal. Os resultados foram analisados por meio do teste de Fisher e da análise de variância (ANOVA). O nível de significância empregado foi 5% (p=0,05). RESULTADOS: Em 840 exames realizados, foram diagnosticados 69 casos de trissomias; nove deles foram excluídos por desfecho ocorrido fora do Hospital de Clínicas de Porto Alegre ou prontuário incompleto, restando 60 casos (nove de trissomia do cromossomo 13, 26 do cromossomo 18 e 25 do cromossomo 21). As cardiopatias ocorreram, na maioria dos casos, nos três grupos; a comunicação interventricular foi mais prevalente, em 66,7% do grupo da trissomia 13. As anomalias gastrintestinais aconteceram mais no grupo da trissomia 18, principalmente a onfalocele (38,5%; p

OBJECTIVE:To evaluate the efficacy and safety of IV laronidase for MPS I. METHODS:A systematic literature review was performed by searching the ClinicalTrials.gov, MEDLINE/PubMed, EMBASE, LILACS, and Cochrane Library databases, limited to clinical trials published until December 31, 2016. The first inclusion criterion was being a randomized controlled trial (RCT). If < five RCTs were identified, open-label and nonrandomized trials, controlled or uncontrolled (quasi-experimental), including ≥ five patients, and evaluating relevant outcomes defined a priori, would also be included. For meta-analysis, primary inferences were based on random-effects models. Assessment of article quality was performed in accordance with the GRADE criteria. The Cochrane Risk of Bias tool was used to examine the risk of bias for RCTs. RESULTS:The selection phase retrieved 632 articles. During the first phase of selection, 158 had the abstract or full text read for assessment of eligibility, of which nine (two RCTs) were included for qualitative synthesis. Four papers were included in the meta-analysis, which was performed for the following outcomes: occurrence of treatment-emergent or infusion-related adverse events (65%; 95%CI 53, 76), mild in most cases; development of IgG antibodies to laronidase (88%; 95%CI 67, 100); apnea-hypopnea index (not significant-NS), urinary glycosaminoglycans (GAGs) [mean change -65.5 μg/mg creatinine (95%CI -68.8, -62.3)], liver size [mean change -31.03% (95%CI -36.1, -25.9)], left ventricular mass index (LVMI) [mean change -1.8 (95%CI -2.32, -0.25)], and distance covered in the 6-minute walk test (NS). Among the outcomes not included in meta-analysis, we found evidence for benefit of laronidase only on shoulder flexion. CONCLUSIONS:Our findings suggest that IV laronidase effectively reduces urinary GAGs excretion, hepatomegaly and LVMI, and can improve shoulder flexion in MPS I patients. Laronidase appears to be safe in the studied population.

Anemia falciforme ainda constitui grande problema de saúde pública em países subdesenvolvidos e em desenvolvimento. A doença falciforme é uma das doenças hereditárias mais comuns no Brasil. Afeta, principalmente, a população que apresenta grande miscigenação racial. Aproximadamente 1 criança afro-brasileira em cada 37400 nasce com a doença falciforme. Déficit auditivo tem sido considerado uma das principais manifestações clínicas, sobretudo em crianças. No entanto, até o momento, há escassez de estudos no Brasil, e na Bahia, estado brasileiro de maior população negra, com o objetivo de determinar a frequência desta manifestação. OBJETIVO: Analisar os principais estudos relacionados ao tema, publicados nos últimos 20 anos, nas principais bases de dados indexadas. MATERIAL E MÉTODO: Identificar por meio da base de dados MEDLINE os principais artigos da literatura médica da língua inglesa, publicados entre janeiro de 1989 a janeiro de 2009, que relataram associação entre anemia falciforme e déficit auditivo e suas repercussões clínicas. CONCLUSÃO: Visto que a prevenção de deficiências é sempre possível, o conhecimento sobre a surdez nas crianças com anemia falciforme possibilita maximizar a qualidade de vida e a inserção escolar ampla.Sickle cell anemia is still a significant public health issue in underdeveloped and developing countries. Sickle cell disease is one of the most common inherited diseases in Brazil. It affects mainly the mixed race population. Approximately 1 African-Brazilian child is affected with sickle cell disease for every 37,400 children born alive. Hearing loss has been considered one of the main clinical manifestations, especially in children. However, to date, there are just a hand full of studies in Brazil and the Brazilian state of Bahia has the largest African-descended population, attempting to establish the frequency of this event. OBJECTIVES: To analyze the major studies associated with the subject, published in the last twenty years in the main indexed databases. METHODS: To use MEDLINE to identify the main papers published in English in medical literature, between January of 1989 and January of 2009; associating sickle cell anemia and hearing loss, with its clinical outcomes. CONCLUSION: Given that it is always possible to attempt to prevent disabilities, understanding hearing loss in children with sickle cell anemia enables to maximize quality of life and provides for a broader school attendance.

OBJETIVO: Analisar a prevalência de déficit auditivo e caracterizar as principais sequelas auditivas e neurológicas pós-meningite, correlacionando o tipo de antibiótico utilizado durante o período de internação e a frequência de surdez, além do tipo de meningite mais prevalente como causa de déficit auditivo. MÉTODOS: Trata-se de um estudo de coorte transversal. Foram enviadas 289 cartas para os responsáveis pelas crianças que apresentaram meningite piogênica entre 28 dias e 24 meses, admitidas no Hospital Couto Maia (HC Maia) entre janeiro de 2002 a dezembro de 2003. A amostra foi constituída por 55 crianças que sobreviveram com ou sem sequelas evidentes, que compareceram para as avaliações audiológica e neurológica. Foi realizada avaliação audiológica completa, incluindo a bateria subjetiva e objetiva de avaliação, com utilização de instrumentos validados para investigação da audição da criança. RESULTADOS: A faixa etária, no momento da avaliação audiológica, variou de dois a cinco anos. A deficiência auditiva foi encontrada em 29% da amostra, sendo a maioria do tipo neurossensorial, bilateral e de grau profundo. As principais sequelas neurológicas encontradas foram epilepsia, hemiparesia, hidrocefalia, disfasia e hiperatividade. CONCLUSÃO: Os resultados destacam a necessidade de monitoramento audiológico e acompanhamento neurológico nas crianças com história prévia de meningite piogênica, especialmente aquelas infectadas em idade precoce, buscando, desta forma, detectar as possíveis alterações auditivas e intervir o mais precocemente possível, por meio de intervenção especializada, protetização e reabilitação da linguagem oral.PURPOSE: To analyze the prevalence of hearing impairment and to characterize the main auditory and neurological sequelae after meningitis, correlating the type of antibiotic used during the hospitali66zation period and the frequency of deafness, as well as the most prevalent type of meningitis as cause of hearing impairment. METHODS: Two hundred and eighty nine caregivers of children who were diagnosed with pyogenic meningitis between 28 days and 24 months, and had been admitted at Hospital Couto Maia (HC Maia) between January 2002 and December 2003 were contacted. The sample was composed of 55 children that survived with or without evident sequelae, who attended audiological and neurological evaluation. A complete audiological evaluation was carried out, including a subjective and objective battery of evaluation tests, using standardized instruments for investigation of children's hearing. RESULTS: The age range of the subjects when the audiological evaluation was carried out varied from two to five years. Hearing impairment was detected in 29% of the sample, characterizing, mostly, a profound bilateral neurosensory hearing loss. The main neurological sequelae found were: epilepsy, hemiparesy, hydrocephaly, dysphasia, and hyperactivity. CONCLUSION: The results indicate the need for audiological monitoring and neurological follow-up in children with previous history of pyogenic meningitis, especially those infected in early ages, seeking to identify possible hearing impairments and to intervene as soon as possible, through specialized intervention, prothetization, and oral language rehabilitation.

Dois experimentos foram realizados com o objetivo de avaliar a digestibilidade e balanços metabólicos da silagem de grãos úmidos de milho para suínos. Foram utilizados 12 suínos machos castrados, irmãos paternos, com peso vivo médio de 47kg, mantidos em gaiolas metabólicas. O experimento 1 teve como objetivo comparar os balanços metabólicos de animais alimentados com dietas contendo milho seco e silagem de grãos úmidos. O experimento 2 teve por objetivo avaliar a digestibilidade da silagem de grãos úmidos. O delineamento experimental utilizado foi o inteiramente casualizado. Cada experimento teve dois tratamentos com quatro repetições de um animal cada. A substituição dos grãos de milho seco por silagem de grãos úmidos em dietas de suínos não influenciou (P>0,05) os balanços do nitrogênio e da energia. A silagem de grãos úmidos de milho apresentou coeficientes de digestibilidade de 85% para a proteína bruta, 90% para a energia bruta e 90% para matéria seca. A substituição do grão de milho seco por silagem de grãos úmidos de milho na dieta de suínos não afeta os balanços do N e da energia. A silagem de grãos úmidos de milho apresenta teores digestíveis de MS, energia bruta e metabolizável superiores quando comparados aos do grão de milho seco.

INTRODUCTION: The emergence of a new subtype of the influenza virus in 2009 generated interest in the international medical community, the media, and the general population. Pregnant women are considered to be a group at risk of serious complications related to the H1N1 influenza virus. The aim of this study was to evaluate the outcomes and teratogenic effects of pregnancies exposed to the H1N1 virus during the Influenza A epidemic that occurred in the state of Rio Grande do Sul in 2009. METHODS: This is an uncontrolled prospective cohort study of pregnant women with suspected symptoms of Influenza A who were reported in the Information System for Notifiable Diseases-Influenza (SINAN-Influenza) during the epidemic of 2009 (database from the state of Rio Grande do Sul, Brazil). There were 589 cases of pregnant women with suspected infection. Among these, 243 were tested by PCR and included in the analysis. The main outcome measures were: maternal deaths, pregnancy outcome, stillbirths, premature births, low birth weight, congenital malformations, and odds ratios for H1N1+ and non-H1N1 pregnant women. RESULTS: There were one hundred and sixty-three (67%) confirmed cases of H1N1, 34 cases (14%) of seasonal Influenza A and 46 (19%) who were negative for Influenza A. There was no difference between the three groups in clinical parameters of the disease. There were 24 maternal deaths--18 of them had H1N1. There were 8 stillbirths--5 were children of H1N1 infected mothers. There were no differences in perinatal outcomes. CONCLUSIONS: The present data do not indicate an increase in teratogenic risk from exposure to the influenza A (H1N1) virus. These results will help to strengthen the data and clarify the health issues that arose after the pandemic.