720 research outputs found

    Natural history of 39 patients with Achondroplasia

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    OBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments. METHODS: Observational and retrospective study of 39 patients who were attended at a public tertiary level hospital between 1995 and 2016. RESULTS: Diagnosis was made prenatally in 11 patients, at birth in 9 patients and within the first year of life in 13 patients. The most prevalent clinical findings were short stature, high forehead, trident hands, genu varum and macrocephaly. The most prevalent radiographic findings were rhizomelic shortening of the long bones and narrowing of the interpediculate distance of the caudal spine. There was motor developmental delay in 18 patients and speech delay in 16 patients. The most common clinical intercurrences were middle ear dysfunction, sleep apnea, limb pain and obesity from 2 to 9 years of age. One patient was large for the gestational age but did not develop obesity. One patient developed hydrocephalus at 10 years old. The current age of the patients varies from 15 months to 36 years. The molecular study performed by Sanger sequencing of the common heterozygous mutation 1138G4A in FGFR3 was positive in all patients. Four cases were inherited, and 35 were sporadic (paternal age from 19 to 66 years). CONCLUSIONS: The diagnoses were made early based on clinical and radiographic findings. All cases were confirmed molecularly. Despite presenting a benign course, it is necessary to establish a systematic protocol for the surveillance of these patients due to the common clinical intercurrences

    Seroprevalence of IgG and IgM anti-SARS-CoV-2 among voluntary blood donors in Rio de Janeiro, Brazil

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    Background: In Brazil, mathematical models for deriving estimates and projections of COVID-19 cases have been developed without data on asymptomatic SARS-CoV-2 infection. We estimated the seroprevalence of antibodies to SARS-CoV-2 among blood donors in the State of Rio de Janeiro. Methods: Data were collected on 2,857 blood donors from April 14 to 27, 2020. We report the crude prevalence of antibodies to SARS-CoV-2, the weighted prevalence by the total state population, and adjusted prevalence estimates for test sensitivity and specificity. To establish the correlates of SARS-CoV-2 prevalence, we used logistic regression models. The analysis included period and site of blood collection, sociodemographic characteristics, and place of residence. Results: The proportion of SARS-Cov-2 positive tests without any adjustment was 4.0% (95% CI 3.3-4.7%), and the weighted prevalence was 3.8% (95% CI 3.1-4.5%). Further adjustment by test sensitivity and specificity produced lower estimates, 3.6% (95% CI 2.7-4.4%) and 3.3% (95% CI 2.6-4.1%), respectively. The variable most significantly associated with the crude prevalence was the period of blood collection: the later the period, the higher the prevalence. Regarding socio-demographic characteristics, the younger the blood donors, the higher the prevalence, and the lower the educational level, the higher the odds of a positive SARS-Cov-2 antibody. Similar results were found for the weighted prevalence. Discussion: Although our findings resulted from a convenience sample, they match some basic premises: the increasing trend over time, since the epidemic curve in the state is still on the rise; the higher prevalence among the youngest who are more likely to circulate; and the higher prevalence among the less educated as they have more difficulties in following the social distancing recommendations. Despite the study limitations, it is possible to infer that protective levels of natural herd immunity to SARS-CoV-2 are far from being reached in Rio de Janeiro

    Desenvolvimento vegetativo de cultivares de palma de Ăłleo dos 14 aos 34 meses de idade em ecossistemas de Roraima.

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    Objetivou-se com este trabalho avaliar o desenvolvimento vegetativo de cultivares de palma de óleo Elaeis guineensis Jacq dos 14 aos 34 meses de idade no campo, em dois ecossistemas de Roraima. Foram conduzidos dois experimentos, sendo um em área de savana e outro em área de floresta alterada com a avaliação das cultivares BRS C-2528, BRS C-3701 e BRS C-2301, em deline amento experimental de blocos ao acaso com seis repetições. Foram realizadas 18 avaliações mensais, no período de agosto de 2008 a abril de 2010, quanto ao número de folhas emitidas, comprimento da folha 4 (cm) e circunferência do coleto (cm). Foram realizadas análises de variância individuais e conjuntas. Para a comparação das médias das características avaliadas foi utilizado o teste de Scott-Knott em nível de 5% de probabilidade. Pela comparação das médias das características avaliadas, nos dois ambientes, foi possível verificar que, aos 34 meses de idade, no ecossistema de floresta as plantas apresentaram maior número de folhas, maior comprimento da folha 4 e maior circunferência do coleto, diferindo significativamente, dos resultados obtidos em ecossistema de savana. Na área de floresta alterada, independente da cultivar avaliada, as plantas apresentaram mensalmente, 3,0 folhas emitidas, crescimento da folha 4 de 8,9 cm e circunferência do coleto de 9,6 cm, enquanto que, em savana, 2,5 folhas emitidas, comprimento da folha 4 de 7,5 cm e circunferência do coleto de 6,1cm. Conclui-se que no ambiente de floresta alterada, as cultivares apresentam desenvolvimento vegetativo superior ao obtido no ambiente de savana

    Effects of post-activation potentiation and carbohydrate mouth rinse on repeated sprint ability

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    The aim of this study was to investigate the effect of post-activation potentiation (PAP), carbohydrate (CHO) mouth rinse, and the combination of both strategies on repeated sprint ability (RSA). Twenty male soccer players (age = 18.9 ± 0.9 years, body mass = 71.8 ± 5.2 kg, height = 178.2 ± 6.3 cm) randomly performed four experimental conditions before RSA test (six sets of 40 m): (I) placebo (PLA) control, (II) CHO mouth rinse (6% maltodextrin), (III) PAP + PLA, and (IV) PAP + CHO. The PAP protocol involved two sets of five repetitions (80% 1RM) of the back squat exercise. A one-way repeated measures analysis of variance followed by Bonferroni post hoc test was used to compare the experimental conditions. Results indicated that PAP + CHO and PAP + PLA had better results for the variables best sprint time, mean sprint time, and total sprint time compared with CHO and PLA (p<0.001; small effect size). No significant interaction between the experimental conditions was observed for the variable RSA performance decrement, and no significant difference between conditions, i.e., PAP + CHO vs. PAP + PLA and CHO vs. PLA control was found. In conclusion, PAP positively affects RSA performance in soccer players; however, the combination of PAP and CHO mouth rinse showed no additional effect

    A list of land plants of Parque Nacional do CaparaĂł, Brazil, highlights the presence of sampling gaps within this protected area

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    Brazilian protected areas are essential for plant conservation in the Atlantic Forest domain, one of the 36 global biodiversity hotspots. A major challenge for improving conservation actions is to know the plant richness, protected by these areas. Online databases offer an accessible way to build plant species lists and to provide relevant information about biodiversity. A list of land plants of “Parque Nacional do Caparaó” (PNC) was previously built using online databases and published on the website "Catálogo de Plantas das Unidades de Conservação do Brasil." Here, we provide and discuss additional information about plant species richness, endemism and conservation in the PNC that could not be included in the List. We documented 1,791 species of land plants as occurring in PNC, of which 63 are cited as threatened (CR, EN or VU) by the Brazilian National Red List, seven as data deficient (DD) and five as priorities for conservation. Fifity-one species were possible new ocurrences for ES and MG states

    Pacificação e tutela militar na gestão de populações e territórios

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    Pervasive gaps in Amazonian ecological research

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    Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear un derstanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5–7 vast areas of the tropics remain understudied.8–11 In the American tropics, Amazonia stands out as the world’s most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepre sented in biodiversity databases.13–15 To worsen this situation, human-induced modifications16,17 may elim inate pieces of the Amazon’s biodiversity puzzle before we can use them to understand how ecological com munities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple or ganism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region’s vulnerability to environmental change. 15%–18% of the most ne glected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lostinfo:eu-repo/semantics/publishedVersio

    Pervasive gaps in Amazonian ecological research

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