154 resultados para Abnormalities.


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This is a case report of macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) associated with autism. Studies on genetic or environmental syndromes associated with autism can provide genetic markers or uncover relevant events, and are very important for the definition of autism subgroups in future molecular research.

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Phenotypically discordant monozygotic twins offer the possibility of gene discovery through delineation of molecular abnormalities in one member of the twin pair. One proposed mechanism of discordance is postzygotically occurring genomic alterations resulting from mitotic recombination and other somatic changes. Detection of altered genomic fragments can reveal candidate gene loci that can be verified through additional analyses. We investigated this hypothesis using array comparative genomic hybridization; the 50K and 250K Affymetrix GeneChip (R) SNP arrays and an Illumina custom array consisting of 1,536 SNPs, to scan for genomic alterations in a sample of monozygotic twin pairs with discordant cleft lip and/or palate phenotypes. Paired analysis for deletions, amplifications and loss of heterozygosity, along with sequence verification of SNPs with discordant genotype calls did not reveal any genomic discordance between twin pairs in lymphocyte DNA samples. Our results demonstrate that postzygotic genomic alterations are not a common cause of monozygotic twin discordance for isolated cleft lip and/or palate. However, rare or balanced genomic alterations, tissue-specific events and small aberrations beyond the detection level of our experimental approach cannot be ruled out. The stability of genomes we observed in our study samples also suggests that detection of discordant events in other monozygotic twin pairs would be remarkable and of potential disease significance.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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One of the major questions concerning Giardia is the understanding of pathophysiological processes associated with small intestine abnormalities. There are evidences that Giardia trophozoites contain and/or release proteolytic enzymes that may be implicated in the host intestinal epithelium. The present investigation was undertaken to examine the protease activity in excretory/secretory (E/S) products of Giardia duodenalis trophozoites of an axenic Brazilian strain (BTU-11) and the reference strain Portland 1 (P1). E/S products from trophozoites of each strain in conditioned medium were tested with sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) for the protein profiles, and the protease activity was analyzed using substrate-impregnated SDS-PAGE (gelatin and collagen) and hemoglobin assay. The proteases characterization was based on inhibition assays including synthetic inhibitors. Electrophoresis analysis of E/S products revealed a banding pattern composed by few bands (4 to 6 bands) in the migration region of 123 to 28 kDa. Proteolytic products were detected in the conditioned medium by trophozoites of both assayed strains. In the gels containing copolymerized gelatin and collagen, E/S products promoted substrate degradation and the most evident proteolysis zones were distributed in the migration regions of 77 to 18 kDa and 145 to 18 kDa, respectively, in the patterns of gelatinolytic and collagenolytic activities. Degradation of hemoglobin was also observed, and the pattern of hydrolysis was similar in both E/S products assayed. Inhibitor assays showed that the main proteolytic activity in both E/S products is due to cysteine proteases, although the presence of serine proteases was also indicated. Degradation of substrates including collagen and hemoglobin could lead us to speculate different functions of Giardia excreted/secreted proteases in vivo, but to confirm this possibility and to elucidate its implication on host-parasite interactions, further experiments applying protocols for the purification of proteases are necessary. Even so, our observations are relevant and hold the perspective for the understanding about protease activity in Giardia trophozoites of axenic strain isolated in an endemic area.

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CONTEXTUALIZAÇÃO: A dor e a disfunção no complexo articular do ombro é comumente encontrada na prática fisioterapêutica. Essas anormalidades musculoesqueléticas estão relacionadas à instabilidade e inadequado funcionamento cinemático, que dependem da integridade dos tecidos musculares. Assim, no sentido de prevenir e reabilitar esses sintomas, o uso da haste oscilatória vem sendo implantado para melhorar os resultados de técnicas cinesioterapêuticas. OBJETIVOS: Analisar a atividade eletromiográfica (EMG) dos músculos que estabilizam a articulação do ombro durante a realização de exercícios com haste oscilatória e haste não-oscilatória. MÉTODOS: Participaram do estudo 12 voluntárias com idade de 20,4±1,9 anos. Os dados EMG foram coletados nos músculos trapézio superior (TrS), trapézio inferior (TrI) e deltoide médio (DM) durante três diferentes exercícios realizados com haste oscilatória e haste não-oscilatória. O sinal EMG foi analisado no domínio do tempo pelo cálculo do Root Mean Square (RMS). Os valores de RMS foram normalizados pelo valor de pico obtido em todas as tentativas por cada músculo. A análise estatística foi feita com os testes ANOVA para medidas repetidas e post-hoc de Bonferroni. RESULTADOS: A atividade EMG dos músculos TrS, TrI e DM foi significativamente maior nos exercícios com haste oscilatória do que com haste não-oscilatória (todos p<0,001). Não foram significativas as diferenças na ativação desses músculos entre os exercícios. CONCLUSÃO: Os resultados do presente estudo indicaram que a haste oscilatória requisitou maior atividade EMG dos músculos do ombro e, assim, pode ser um instrumento útil no treinamento desses músculos.