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1.
J Neurol ; 270(2): 711-725, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36342524

RESUMO

INTRODUCTION: During the last decade, physical activity (PA) (or "exercise") has been identified as one of the main modifiable factors that influence the development of Alzheimer's disease (AD) pathophysiology. We performed an umbrella review to summarize the evidence on the association between PA/exercise and the risk of developing AD risk, and the effect of exercise interventions on the progression of AD. METHODS: A systematic search was performed in PubMed, SportDiscus, Cochrane Library and Web of Science (March 2022) to identify meta-analyses assessing the association between PA and the incidence of AD, and assessing the effect of exercise interventions on patients with AD. RESULTS: Twenty-one studies were included. The results with strongest evidence revealed the positive effects of PA on AD risk. Specifically, meeting the WHO recommendations for PA was associated with a lower risk of AD. They also revealed positive effects of exercise on cognitive function, physical performance, and functional independence. CONCLUSIONS: There is strong evidence of a protective effect of regular PA against AD risk; however, the dose-response association remains unclear. Physical exercise seems to improve several dimensions in patients with AD, although research is warranted to elucidate the exercise characteristics that promote the greatest benefits.


Assuntos
Doença de Alzheimer , Humanos , Doença de Alzheimer/terapia , Doença de Alzheimer/psicologia , Cognição/fisiologia , Exercício Físico/fisiologia , Terapia por Exercício , Metanálise como Assunto
2.
Genet Med ; 24(12): 2475-2486, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36197437

RESUMO

PURPOSE: We aimed to investigate the molecular basis of a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies caused by truncating variants in the last exon of the gene FOSL2, encoding a subunit of the AP-1 complex. METHODS: Exome sequencing was used to identify genetic variants in all cases, recruited through Matchmaker exchange. Gene expression in blood was analyzed using reverse transcription polymerase chain reaction. In vitro coimmunoprecipitation and proteasome inhibition assays in transfected HEK293 cells were performed to explore protein and AP-1 complex stability. RESULTS: We identified 11 individuals from 10 families with mostly de novo truncating FOSL2 variants sharing a strikingly similar phenotype characterized by prenatal growth retardation, localized cutis scalp aplasia with or without skull defects, neurodevelopmental delay with autism spectrum disorder, enamel hypoplasia, and congenital cataracts. Mutant FOSL2 messenger RNAs escaped nonsense-mediated messenger RNA decay. Truncated FOSL2 interacts with c-JUN, thus mutated AP-1 complexes could be formed. CONCLUSION: Truncating variants in the last exon of FOSL2 associate a distinct clinical phenotype by altering the regulatory degradation of the AP-1 complex. These findings reveal a new role for FOSL2 in human pathology.


Assuntos
Transtorno do Espectro Autista , Displasia Ectodérmica , Transtornos do Neurodesenvolvimento , Humanos , Couro Cabeludo/anormalidades , Couro Cabeludo/metabolismo , Transtorno do Espectro Autista/genética , Células HEK293 , Fator de Transcrição AP-1/genética , Éxons/genética , Displasia Ectodérmica/genética , Transtornos do Neurodesenvolvimento/genética , RNA Mensageiro , Antígeno 2 Relacionado a Fos/genética
3.
Biosci. j. (Online) ; 38: e38010, Jan.-Dec. 2022. graf
Artigo em Inglês | LILACS | ID: biblio-1361645

RESUMO

Commercial propagation of pequizeiro, which stands out among the main native fruits of the Cerrado region for its high economic potential, has been done by seeds, despite their erratic germination. The objective of this study was to evaluate the effect of seed size and presence of thorns on the endocarp on seedling emergence of pequizeiro in the field. Seeds were collected in a pequizeiro commercial area in Canarana-MT, Brazil. Due to availability, 2,353 thorny seeds (3 sizes) and 106 seeds without thorns (medium sized) were tested. Thorny seeds were classified as large ­ longer than 50 mm; medium ­ between 40 and 50 mm; small ­ less than 40 mm. Seedling emergence started after 50 days in all seed categories, extending up to 100 days in the large seeds and to about 1 year after sowing in the small and medium sized ones. Small seeds showed a lower rate and speed of emergence compared to the others. Large seeds showed higher emergence speed compared to the medium ones. The presence of thorns did not affect seedling emergence. These results indicate the advantages of pequizeiro seed classification for sowing purposes.


Assuntos
Germinação , Plântula , Dormência de Plantas , Malpighiales
4.
Genet Med ; 23(4): 679-688, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33442026

RESUMO

PURPOSE: This study aimed to identify the genetic cause of a new multiple congenital anomalies syndrome observed in three individuals from two unrelated families. METHODS: Clinical assessment was conducted prenatally and at different postnatal stages. Genetic studies included exome sequencing (ES) combined with single-nucleotide polymorphism (SNP) array based homozygosity mapping and trio ES. Dermal fibroblasts were used for functional assays. RESULTS: A clinically recognizable syndrome characterized by severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with an additional hypoplastic digit between the fourth and fifth digits of hands and/or feet was identified. Additional features included eye abnormalities, hearing impairment, and electroencephalogram anomalies. ES detected different homozygous truncating variants in MAPKAPK5 in both families. Patient-derived cells showed no expression of MAPKAPK5 protein isoforms and reduced levels of the MAPKAPK5-interacting protein ERK3. F-actin recovery after latrunculin B treatment was found to be less efficient in patient-derived fibroblasts than in control cells, supporting a role of MAPKAPK5 in F-actin polymerization. CONCLUSION: Our data indicate that loss-of-function variants in MAPKAPK5 result in a severe developmental disorder and reveal a major role of this gene in human brain, heart, and limb development.


Assuntos
Deficiências do Desenvolvimento , Peptídeos e Proteínas de Sinalização Intracelular/genética , Proteínas Serina-Treonina Quinases/genética , Sindactilia , Criança , Deficiências do Desenvolvimento/genética , Humanos , Fenótipo , Sindactilia/genética
5.
Biosci. j. (Online) ; 37: e37064, Jan.-Dec. 2021. tab
Artigo em Inglês | LILACS | ID: biblio-1359149

RESUMO

Despite the importance of passion fruit for the Brazilian fruit market, there are still many agronomic and fruit quality problems to be solved, in order to increase this crop performance. The objective of this study was to evaluate the quality of twelve genotypes of wild, sweet and yellow passion fruit, aiming to identify promising materials considering fruit quality, in Federal District, Brazil. An experiment was carried out at the Água Limpa Farm of the Universidade de Brasília (UnB) from 2016 to 2018, in a randomized block design, with 12 treatments, 4 replicates and 6 plants/plot. At the harvesting time, six fruits per plot were randomly collected for the following physicochemical analysis: fruit mass, pulp mass with and without seeds, length/longitudinal diameter, width/transverse diameter, length/width ratio, husk thickness, predominant color of the pulp (L*, C*, h*), number of seeds, seed size, total soluble solids content, total titratable acidity, total soluble solids/total titratable acidity ratio and pH. High heritability values ​​and relation of genetic/environment variation coefficients ratio were observed for most of the characteristics evaluated. The genotypes of yellow passion fruit MAR20#21 P2 x FB 200 P1 R2 and MAR20#19 ROXO R4 x ECRAM P3 R3 showed the best characteristics of fruit mass and pulp mass with seed. All the genotypes studied showed values ​​of total soluble solids above 11ºBrix. Positive and significant correlation was observed between fruit mass and length/width ratio, indicating that oblong fruits have higher fruit mass.


Assuntos
Colorimetria , Passiflora , Fenômenos Químicos , Melhoramento Vegetal
7.
Biosci. j. (Online) ; 35(6): 1708-1717, nov./dec. 2019. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1049095

RESUMO

Studies on the determination of genetic divergence among genotypes are important tools in breeding programs, contributing to the identification of parents with considerable productive potential. However, little is known about the combinatorial capacity of sweet potato (Ipomoea batatas) accessions and its adaptation to the different regions of Brazil. The objective of this study was to evaluate the morpho-agronomic traits from 102 sweet potato accessions from the Germplasm Bank of Embrapa Hortaliças. The experiment was laid out as an augmented block design comprised of 102 treatments. Nineteen above ground traits were measured using descriptors for the respective parts. Estimated values of broad sense heritability were high for the traits mean branch length (95.75%), immature leaf color (85.06%), and predominant branch color (90.57%). Coefficients of environmental variation were below 30.00% for all variables, except for branch weight (51.62%). The 102 clones analyzed presented broad genetic variability for the different traits evaluated, especially for branch weight, and branch length, and mature leaf color.


Estudos de determinação de divergência genética entre genótipos são ferramentas de grande importância em programas de melhoramento, auxiliando na identificação de genitores com considerável potencial produtivo. No entanto, pouco ainda se sabe sobre a capacidade combinatória de acessos de batata-doce (Ipomoea batatas) e sobre a adaptação a diferentes regiões do Brasil. O objetivo deste trabalho foi avaliar características agronômicas de 102 acessos de batata-doce mantidos no Banco de Germoplasma da Embrapa Hortaliças. O experimento foi instalado utilizando o delineamento em blocos aumentados, com 102 tratamentos. Foram mensuradas 19 características da parte aérea utilizando-se descritores das respectivas partes. Os valores das estimativas de herdabilidade no sentido amplo foram altos para as características comprimento médio das ramas (95,75%), cor da folha imatura (85,06%) e cor predominante da rama (90,57%). Os coeficientes de variação foram inferiores a 30 % para todas as variáveis, exceto para peso das ramas (51.62%). Os 102 clones analisados apresentaram ampla variabilidade genética para as diferentes características avaliadas, principalmente para peso das ramas, comprimento das ramas e cor da folha madura


Assuntos
Ipomoea batatas , Melhoramento Vegetal , Banco de Sementes , Genótipo
8.
Biosci. j. (Online) ; 35(6): 1773-1779, nov./dec. 2019. tab
Artigo em Inglês | LILACS | ID: biblio-1049114

RESUMO

Sweet potato (Ipomoea batatas) is a rustic horticultural crop with high production potential. However, the crop is susceptible to many pests and diseases. The objective of this study was to evaluate 10 genotypes of sweet potato regarding their yield and resistance to soil insects, under Brazilian cerrado soil conditions. Genotypes were selected from the Sweet Potato Germplasm Bank of Embrapa Hortaliças. The experiment was conducted at Água Limpa Farm, belonging to University of Brasilia (UnB), and consisted of a randomized block design, with 10 treatments (genotypes), 10 plants per plot, and four replications. The following traits were analyzed: number of perforations per root, incidence of roots injured by insects, plant resistance degree, root shape, total and marketable root yields, root peel color, root pulp color, pulp total soluble solids, pulp titratable acidity, pulp TSS/TA ratio, pulp moisture, and pulp starch yield. Genotype CNPH 53 (26.78 t ha-1) presented total root yield greater than the commercial variety Brazlândia Rosada (17.54 t ha-1). Genotype Santa Sofia (11.77 t ha-1) and Brazlândia (13.5 t ha-1) had similar marketable root yields. CNPH 53 showed the best agronomic performance, exhibiting moderate susceptibility to soil insects and root shape meeting the market standards. It also had low pulp TA (2.53%); high pulp TSS (12.25 °Brix) and pulp TSS/AT ratio (4.24); pulp moisture content close to 70%; and the highest pulp starch content (11.98%). The traits number of perforations per root, root shape, and pulp TA presented heritability values close to 70%. Marketable root yield, pulp moisture, and pulp starch content demonstrated heritability values greater than 90% and CVG/CVE greater than 1


A batata-doce (Ipomoea batatas) é uma hortícola rústica e de elevado potencial produtivo. No entanto, ainda é suscetível a grande número de pragas e doenças. O objetivo deste trabalho foi avaliar dez genótipos de batata-doce quanto à produtividade e resistência a insetos de solo nas condições de solo do cerrado Brasileiro. Os genótipos avaliados foram selecionados do Banco de Germoplasma da Embrapa Hortaliças. O experimento foi conduzido na Fazenda Água Limpa da Universidade de Brasília (UnB) utilizando delineamento experimental de blocos casualizados, com 10 tratamentos, 4 repetições e 10 plantas de batata-doce por parcela. As características avaliadas foram: número de furos por raiz, incidência de danos causados por insetos, grau de resistência da planta, formato de raiz, cor da casca da raiz, cor da polpa da raiz, produtividade total e comercial de raiz, e teor de sólidos solúveis totais (SST), acidez total titulável (AT), STT/AT, rendimento de amido e umidade da polpa. O genótipo CNPH 53 apresentou produtividade total (26,78 t ha-1) superior à variedade comercial Brazlândia Rosada (17,54 t ha-1). O genótipo Santa Sofia obteve produtividade comercial (11,77 t ha-1) próxima à variedade Brazlândia Rosada (13,75 t ha-1). O genótipo CNPH 53 apresentou o melhor desempenho agronômico, exibindo suscetibilidade moderada aos insetos de solo e formato de raiz dentro dos padrões comerciais. Apresentou também baixa acidez (2,53%); alto teor de sólidos solúveis (12,25 °Brix) e de ratio (4,24); teor de umidade da polpa próximo a 70% e maior teor de amido na polpa (11,98%). As características número de furos, formato e acidez apresentaram valores de herdabilidade próximos de 70%. A produtividade comercial, umidade e amido da polpa demonstraram valores de herdabilidade acima de 90% e CVg/CVe maior que 1


Assuntos
Raízes de Plantas , Pragas da Agricultura , Ipomoea batatas , Melhoramento Vegetal
9.
Syst Appl Microbiol ; 41(1): 51-61, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29198596

RESUMO

Rhizobia are symbiotic nitrogen-fixing bacteria in root nodules of legumes. In Morocco, faba bean (Vicia faba L.), which is the main legume crop cultivated in the country, is often grown in marginal soils of arid and semi-arid regions. This study examines the phenotypic diversity of rhizobia nodulating V. faba isolated from different regions in Morocco for tolerance to some abiotic stresses. A total of 106 rhizobia strains isolated from nodules were identified at the species level by analysing 16S rDNA. Additionally, for selected strains recA, otsA, kup and nodA fragments were sequenced. 102 isolates are likely to belong to Rhizobium leguminosarum or R. laguerreae and 4 isolates to Ensifer meliloti. All strains tolerating salt concentrations of 428 or 342mM NaCl as well as 127 or 99mM Na2SO4 were highly resistant to alkaline conditions (pH 10) and high temperature (44°C). Three strains: RhOF4 and RhOF53 (both are salt-tolerant) and RhOF6 (salt-sensitive) were selected to compare the influence of different levels of salt stress induced by NaCl on growth and on trehalose and potassium accumulation. We find a direct correlation between the trehalose contents of the rhizobial strains and their osmotolerance.


Assuntos
Biodiversidade , Pressão Osmótica , Rhizobium/classificação , Rhizobium/isolamento & purificação , Sinorhizobium/classificação , Sinorhizobium/isolamento & purificação , Vicia faba/microbiologia , Proteínas de Bactérias/genética , Variação Biológica da População , Análise por Conglomerados , DNA Bacteriano/química , DNA Bacteriano/genética , DNA Ribossômico/química , DNA Ribossômico/genética , Variação Genética , Marrocos , Filogenia , Raízes de Plantas/microbiologia , Potássio/metabolismo , RNA Ribossômico 16S/genética , Rhizobium/genética , Rhizobium/fisiologia , Análise de Sequência de DNA , Sinorhizobium/genética , Sinorhizobium/fisiologia , Cloreto de Sódio/metabolismo , Estresse Fisiológico , Sulfatos/metabolismo , Temperatura , Trealose/metabolismo
10.
Salud pública Méx ; 53(supl.2): s85-s95, 2011.
Artigo em Inglês | LILACS | ID: lil-597129

RESUMO

OBJETIVO: Comparar los patrones de gastos catastróficos en salud en 12 países de América Latina y el Caribe. MATERIAL Y MÉTODOS: Se estimó la prevalencia de gastos catastróficos de manera uniforme para doce países usando encuestas de hogares. Se emplearon dos tipos de indicadores para medir la prevalencia basados en el gasto de bolsillo en salud: a) en relación con una línea de pobreza internacional; y b) en relación con la capacidad de pago del hogar en términos de su propia canasta alimentaria. Se estimaron razones para comparar el nivel de gastos catastróficos entre subgrupos poblacionales definidos por variables económicas y sociales. RESULTADOS: El porcentaje de hogares con gastos catastróficos variaron de 1 a 25 por ciento en los 12 países. En general, la residencia rural, el bajo nivel de ingresos, la presencia de adultos mayores, y la carencia de aseguramiento en salud de los hogares se asocian con mayor propensión a sufrir gastos catastróficos en salud. Sin embargo, existe una marcada heterogeneidad por país. CONCLUSIONES: Los estudios comparativos entre países pueden servir para examinar cómo los sistemas de salud contribuyen a la protección social de los hogares en América Latina.


OBJECTIVE: Compare patterns of catastrophic health expenditures in 12 countries in Latin America and the Caribbean. MATERIAL AND METHODS: Prevalence of catastrophic expenses was estimated uniformly at the household level using household surveys. Two types of prevalence indicators were used based on out-of-pocket health expense: a) relative to an international poverty line, and b) relative to the household's ability to pay net of their food basket. Ratios of catastrophic expenditures were estimated across subgroups defined by economic and social variables. RESULTS: The percent of households with catastrophic health expenditures ranged from 1 to 25 percent in the twelve countries. In general, rural residence, lowest quintile of income, presence of older adults, and lack of health insurance in the household are associated with higher propensity of catastrophic health expenditures. However, there is vast heterogeneity by country. CONCLUSIONS: Cross national studies may serve to examine how health systems contribute to the social protection of Latin American households.


Assuntos
Adulto , Criança , Humanos , Doença Catastrófica/economia , Países em Desenvolvimento/economia , Características da Família , Gastos em Saúde/estatística & dados numéricos , Distribuição por Idade , Região do Caribe/epidemiologia , Doença Catastrófica/epidemiologia , Alimentos/economia , Pesquisas sobre Atenção à Saúde , Renda , Cobertura do Seguro/estatística & dados numéricos , América Latina/epidemiologia , Área Carente de Assistência Médica , Pessoas sem Cobertura de Seguro de Saúde/estatística & dados numéricos , Pobreza , Fatores de Risco
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