Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood-a study of 155 patients.

BACKGROUND: Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients with alternating hemiplegia of childhood (AHC2). Based on a large series of patients with AHC, we set out to identify the spectrum of different mutations within the ATP1A3 gene and further establish any correlation with phenotype. METHODS: Clinical data from an international cohort of 155 AHC patients (84 females, 71 males; between 3 months and 52 years) were gathered using a specifically formulated questionnaire and analysed relative to the mutational ATP1A3 gene data for each patient. RESULTS: In total, 34 different ATP1A3 mutations were detected in 85 % (132/155) patients, seven of which were novel. In general, mutations were found to cluster into five different regions. The most frequent mutations included: p.Asp801Asn (43 %; 57/132), p.Glu815Lys (16 %; 22/132), and p.Gly947Arg (11 %; 15/132). Of these, p.Glu815Lys was associated with a severe phenotype, with more severe intellectual and motor disability. p.Asp801Asn appeared to confer a milder phenotypic expression, and p.Gly947Arg appeared to correlate with the most favourable prognosis, compared to the other two frequent mutations. Overall, the comparison of the clinical profiles suggested a gradient of severity between the three major mutations with differences in intellectual (p = 0.029) and motor (p = 0.039) disabilities being statistically significant. For patients with epilepsy, age at onset of seizures was earlier for patients with either p.Glu815Lys or p.Gly947Arg mutation, compared to those with p.Asp801Asn mutation (p < 0.001). With regards to the five mutation clusters, some clusters appeared to correlate with certain clinical phenotypes. No statistically significant clinical correlations were found between patients with and without ATP1A3 mutations. CONCLUSIONS: Our results, demonstrate a highly variable clinical phenotype in patients with AHC2 that correlates with certain mutations and possibly clusters within the ATP1A3 gene. Our description of the clinical profile of patients with the most frequent mutations and the clinical picture of those with less common mutations confirms the results from previous studies, and further expands the spectrum of genotype-phenotype correlations. Our results may be useful to confirm diagnosis and may influence decisions to ensure appropriate early medical intervention in patients with AHC. They provide a stronger basis for the constitution of more homogeneous groups to be included in clinical trials

Utilização de nanopartículas no tratamento de feridas: revisão sistemática

RESUMO Objetivo: Analisar, com base nas evidências científicas, os efeitos dos curativos à base de nanopartículas no processo de cicatrização de feridas em animais e células humanas in vitro. Método: Revisão sistemática da literatura realizada nas bases de dados LILACS, PubMed e Science Direct. Os artigos foram selecionados e avaliados quanto ao nível de evidência pela aplicação do STROBE. Resultados: A amostra foi composta por 12 artigos. A aplicação dos produtos se deu em feridas cirúrgicas, queimaduras, feridas infectadas e úlceras gengivais em animais de laboratório, além de alguns testes in vitro, demonstrando que os curativos à base de nanopartículas aumentaram a velocidade de cicatrização, possuíam boa capacidade antibacteriana e não eram citotóxicos, dentre outras vantagens. Conclusão: Tomando por base os artigos analisados, pode-se afirmar que os curativos contendo nanocompostos são bastante promissores e mostramse como uma ótima opção terapêutica na cicatrização de feridas

Nutritional composition, phytochemicals and microbiological quality of the legume, Mucuna pruriens

The aim of this study was to evaluate the nutritional and phytochemical compositions and microbiological quality of seeds of the legume Mucuna pruriens (MP) grown in northeastern Brazil. MP flour and extract were produced and evaluated for proximate, mineral, and phytochemical compositions, fatty acid profile, and microbiological quality. MP flour and seed extract showed 43.12 and 43.4% of protein, 7 and 7.6% lipid matter, 37.19 and 33.33% starch, and 5.64 and 2.36% fiber (p&lt;0.05), respectively. Abundant minerals found were in both the extract as flour, such as potassium (635 and 679 mg/g), iron (79 and 158 mg/g), and phosphorus (83 and 93 mg/g). Flavonoids, steroids, and saponins were detected. The main fatty acids found were myristic, palmitic, oleic and linoleic acids. Microbiological evaluation did not indicate the presence of pathogenic or spoilage microorganisms. MP produced in Northeastern Brazil is an alternative source of carbohydrate, fiber, protein, essential fatty acids, minerals, saponins and flavonoids, which may encourage its potential consumption and marketing. Key words: Mineral composition, microbiological quality, phytochemicals, legum

Glyphosate efficiency on grass brachiaria control to establishment of grass momba?a

Todos os textos, informa??es e resultados apresentados s?o de inteira responsabilidade dos autores.Parte do trabalho de Inicia??o Cientifica do primeiro autor, financiado pelo Conselho Nacional de Desenvolvimento Cient?fico e Tecnol?gico (CNPq), Funda??o de Amparo ? Pesquisa do Estado de Minas Gerais (FAPEMIG) e Coordena??o de Aperfei?oamento de Pessoal de N?vel Superior (CAPES).Avaliou-se a fitotoxidade do capim-braqui?ria e do capim-momba?a ao herbicida glyphosate em diferentes doses e quatro ?pocas de avalia??o (15, 21, 30 e 45 dias ap?s aplica??o). O delineamento foi em blocos ao acaso com cinco repeti??es em esquema fatorial (5 x 2), constitu?do por cinco doses do herbicida glyphosate, equivalentes a 0,25; 0,5; 1,0; 1,5 e 2,0 vezes a dose comercial indicada pelo fabricante para controle de gram?neas do g?nero Brachiaria, e duas esp?cies forrageiras (capim-braqui?ria e capim-momba?a). Cada parcela foi constitu?da por um vaso contendo 7 L de solo e duas plantas de capim-momba?a e capim-braqui?ria por vaso. Avaliou-se o controle das plantas de capim-braqui?ria e n?vel de intoxica??o das plantas de capim-momba?a, aos 15, 21, 30 e 45 dias ap?s aplica??o do herbicida (DAA), por meio de observa??es visuais, atribuindo-se notas de 0 a 100, sendo 0 aus?ncia de controle ou intoxica??o e 100 controle total da esp?cie ou morte das plantas, respectivamente para B. decumbens e Panicum maximum, cv. Momba?a. O glyphosate n?o ? recomendado para controle de capim-braqui?ria em pastagem de capim-momba?a em estabelecimento.The aim of this study was to evaluate the phytotoxicity of grass brachiaria and grass momba?a to glyphosate in different doses and four periods of evaluation (15, 21, 30 and 45 days after application). The experiment was a randomized complete block design with five repetitions at a factorial (5 x 2), composed of five doses of herbicide glyphosate, equivalent to 0,25; 0,5; 1,0; 1,5 and 2,0 times the commercial dose indicated by fabricator to control grasses of the genus Brachiaria, two forage species (grass brachiaria and grass momba?a). Each plot was composed of a vase containing 7 L of soil with two plants of grass momba?a and grass brachiaria. The control of grass brachiaria plants and level of grass momba?a intoxication was evaluated at 15, 21, 30 and 45 days after application of herbicide (DAA), by means of visual observations, with scores from 0 to 100, being 0 control or intoxication and 100 total control of species or plants death, respectively for B. decumbens and Panicum maximum cv. Momba?a. Glyphosate is not recommended for the control of grass brachiaria in grass mombasa pasture in establishment

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.

BACKGROUND: Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients with alternating hemiplegia of childhood (AHC2). Based on a large series of patients with AHC, we set out to identify the spectrum of different mutations within the ATP1A3 gene and further establish any correlation with phenotype. METHODS: Clinical data from an international cohort of 155 AHC patients (84 females, 71 males; between 3 months and 52 years) were gathered using a specifically formulated questionnaire and analysed relative to the mutational ATP1A3 gene data for each patient. RESULTS: In total, 34 different ATP1A3 mutations were detected in 85 % (132/155) patients, seven of which were novel. In general, mutations were found to cluster into five different regions. The most frequent mutations included: p.Asp801Asn (43 %; 57/132), p.Glu815Lys (16 %; 22/132), and p.Gly947Arg (11 %; 15/132). Of these, p.Glu815Lys was associated with a severe phenotype, with more severe intellectual and motor disability. p.Asp801Asn appeared to confer a milder phenotypic expression, and p.Gly947Arg appeared to correlate with the most favourable prognosis, compared to the other two frequent mutations. Overall, the comparison of the clinical profiles suggested a gradient of severity between the three major mutations with differences in intellectual (p = 0.029) and motor (p = 0.039) disabilities being statistically significant. For patients with epilepsy, age at onset of seizures was earlier for patients with either p.Glu815Lys or p.Gly947Arg mutation, compared to those with p.Asp801Asn mutation (p < 0.001). With regards to the five mutation clusters, some clusters appeared to correlate with certain clinical phenotypes. No statistically significant clinical correlations were found between patients with and without ATP1A3 mutations. CONCLUSIONS: Our results, demonstrate a highly variable clinical phenotype in patients with AHC2 that correlates with certain mutations and possibly clusters within the ATP1A3 gene. Our description of the clinical profile of patients with the most frequent mutations and the clinical picture of those with less common mutations confirms the results from previous studies, and further expands the spectrum of genotype-phenotype correlations. Our results may be useful to confirm diagnosis and may influence decisions to ensure appropriate early medical intervention in patients with AHC. They provide a stronger basis for the constitution of more homogeneous groups to be included in clinical trials

Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood-a study of 155 patients.

BACKGROUND: Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients with alternating hemiplegia of childhood (AHC2). Based on a large series of patients with AHC, we set out to identify the spectrum of different mutations within the ATP1A3 gene and further establish any correlation with phenotype. METHODS: Clinical data from an international cohort of 155 AHC patients (84 females, 71 males; between 3 months and 52 years) were gathered using a specifically formulated questionnaire and analysed relative to the mutational ATP1A3 gene data for each patient. RESULTS: In total, 34 different ATP1A3 mutations were detected in 85 % (132/155) patients, seven of which were novel. In general, mutations were found to cluster into five different regions. The most frequent mutations included: p.Asp801Asn (43 %; 57/132), p.Glu815Lys (16 %; 22/132), and p.Gly947Arg (11 %; 15/132). Of these, p.Glu815Lys was associated with a severe phenotype, with more severe intellectual and motor disability. p.Asp801Asn appeared to confer a milder phenotypic expression, and p.Gly947Arg appeared to correlate with the most favourable prognosis, compared to the other two frequent mutations. Overall, the comparison of the clinical profiles suggested a gradient of severity between the three major mutations with differences in intellectual (p = 0.029) and motor (p = 0.039) disabilities being statistically significant. For patients with epilepsy, age at onset of seizures was earlier for patients with either p.Glu815Lys or p.Gly947Arg mutation, compared to those with p.Asp801Asn mutation (p < 0.001). With regards to the five mutation clusters, some clusters appeared to correlate with certain clinical phenotypes. No statistically significant clinical correlations were found between patients with and without ATP1A3 mutations. CONCLUSIONS: Our results, demonstrate a highly variable clinical phenotype in patients with AHC2 that correlates with certain mutations and possibly clusters within the ATP1A3 gene. Our description of the clinical profile of patients with the most frequent mutations and the clinical picture of those with less common mutations confirms the results from previous studies, and further expands the spectrum of genotype-phenotype correlations. Our results may be useful to confirm diagnosis and may influence decisions to ensure appropriate early medical intervention in patients with AHC. They provide a stronger basis for the constitution of more homogeneous groups to be included in clinical trials