983 resultados para X-LINKED INHERITANCE
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A comunicação é essencial nas relações interpessoais, quer ao nível das organizações em geral, quer na organização escolar em particular. As funções de administração, como planeamento, organização, liderança e controle, são levadas a cabo com sucesso, dentro de uma organização quando apoiadas num processo de comunicação eficaz. O objectivo deste estudo foi procurar soluções para a ineficácia relativa do processo de comunicação entre o Diretor e os professores no Agrupamento X. Metodologicamente desenvolveu-se um estudo de caso, de natureza qualitativa, onde se recorreu a instrumentos de recolha de dados como entrevistas e ‘focus group’. Desta forma identificou-se e descreveu-se o processo de comunicação adotado no Agrupamento X entre o Diretor e os professores, bem como se recolheram as opiniões dos docentes e do Diretor sobre a comunicação e a gestão da informação no Agrupamento. Este estudo permitiu reconhecer que a fraca internalização de alguns conceitos e mecanismos do processo comunicacional por parte dos atores contribui para ineficácia relativa deste processo. Na criação do plano de ação retomámos e valorizamos a ideia de que um modelo de comunicação assente nas principais funções da comunicação poderá ser a chave para o maior envolvimento dos docentes na consecução dos objetivos do Projeto Educativo do Agrupamento, ou seja, é dada a resposta à pergunta partida deste projeto – como melhorar o processo de comunicação entre o Diretor e os professores no Agrupamento X?
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Dissertação para obtenção do Grau de Mestre em Lógica Computacional
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Pericardial cysts are rare benign congenital malformations, usually small, asymptomatic and detected incidentally on chest X-ray as a mass located in the right costophrenic angle. Giant pericardial cysts are very uncommon and produce symptoms by compressing adjacent structures. In this report, the authors present a case of a symptomatic giant pericardial cyst incorrectly diagnosed as dextrocardia on chest X-ray.
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This dissertation is presented to obtain a Master degree in Structural and Functional Biochemistry
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Acquired factor X deficiency is an extremely rare situation. It has shown to be associated with systemic amyloidosis, respiratory mycoplasma infection, factor X inhibitors, antiphospholipid antibodies, vitamin K defi ciency/liver disease as well as the use of certain medications (meropenem, valproic acid). The pathogenesis and transient nature of this deficit remain poorly understood. The authors describe the case of a teenager hospitalised for extensive burns that developed active bleeding after removal of central venous catheter. He was diagnosed with transient factor X deficiency. Normalisation of coagulation status and factor X levels occurred spontaneously 10 days after the bleeding episode.
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Dissertation submitted in partial fulfillment of the requirements for the Degree of Master of Science in Geospatial Technologies.
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Dissertation submitted in partial fulfillment of the requirements for the Degree of Master of Science in Geospatial Technologies.
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Ligand K-edge XAS of an [Fe3S4]0 model complex is reported. The pre-edge can be resolved into contributions from the í2Ssulfide, í3Ssulfide, and Sthiolate ligands. The average ligand-metal bond covalencies obtained from these pre-edges are further distributed between Fe3+ and Fe2.5+ components using DFT calculations. The bridging ligand covalency in the [Fe2S2]+ subsite of the [Fe3S4]0 cluster is found to be significantly lower than its value in a reduced [Fe2S2] cluster (38% vs 61%, respectively). This lowered bridging ligand covalency reduces the superexchange coupling parameter J relative to its value in a reduced [Fe2S2]+ site (-146 cm-1 vs -360 cm-1, respectively). This decrease in J, along with estimates of the double exchange parameter B and vibronic coupling parameter ì2/k-, leads to an S ) 2 delocalized ground state in the [Fe3S4]0 cluster. The S K-edge XAS of the protein ferredoxin II (Fd II) from the D. gigas active site shows a decrease in covalency compared to the model complex, in the same oxidation state, which correlates with the number of H-bonding interactions to specific sulfur ligands present in the active site. The changes in ligand-metal bond covalencies upon redox compared with DFT calculations indicate that the redox reaction involves a two-electron change (one-electron ionization plus a spin change of a second electron) with significant electronic relaxation. The presence of the redox inactive Fe3+ center is found to decrease the barrier of the redox process in the [Fe3S4] cluster due to its strong antiferromagnetic coupling with the redox active Fe2S2 subsite.
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Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH. Although the autosomal recessive (AR)form of CMD had been mapped to 6q21-22 the mutation has been elusive. In this study, we performed whole-exome sequencing for one subject with AR CMD and identified a novel missense mutation (c.716G>A, p.Arg239Gln) in the C-terminus of the gap junction protein alpha-1 (GJA1) coding for connexin 43 (Cx43). We confirmed this mutation in 6 individuals from 3 additional families. The homozygous mutation cosegregated only with affected family members. Connexin 43 is a major component of gap junctions in osteoblasts, osteocytes, osteoclasts and chondrocytes. Gap junctions are responsible for the diffusion of low molecular weight molecules between cells. Mutations in Cx43 cause several dominant and recessive disorders involving developmental abnormalities of bone such as dominant and recessive oculodentodigital dysplasia (ODDD; MIM #164200, 257850) and isolated syndactyly type III (MIM #186100), the characteristic digital anomaly in ODDD. However, characteristic ocular and dental features of ODDD as well as syndactyly are absent in patients with the recessive Arg239Gln Cx43 mutation. Bone remodeling mechanisms disrupted by this novel Cx43 mutation remain to be elucidated.
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Introduction: The essential oil Mentha x villosa (MVEO) has a wide range of actions, including antibacterial, antifungal, antiprotozoal and schistosomicidal actions. The present study aimed to investigate the ultrastructural changes of MVEO on the tegument of adult Schistosoma mansoni. Materials and Methods: Different concentrations of MVEO were tested on S. mansoni adult worms in vitro. Ultrastructural changes on the tegument of these adult worms were evaluated using scanning electron microscopy (SEM) and transmission electron microscopy (TEM). Results: The MVEO caused the death of all worms at 500 μg mL-1 after 24 h. After 24h of 500 μg mL-1 MVEO treatment, bubble lesions were observed over the entire body of worms and they presented loss of tubercles in some regions of the ventral portion. In the evaluation by TEM, S. mansoni adult worms treated with MVEO, 500 μg mL-1, presented changes in the tegument and vacuoles in the syncytial matrix region. Glycogen granules close to the muscle fibers were visible. Conclusion: The ability of MVEO to cause extensive ultrastructural damage to S. mansoni adult worms correlates with its schistosomicidal effects and confirms earlier findings with S. mansoni.
Correlating EPR and X-ray structural analysis of arsenite-inhibited forms of aldehyde oxidoreductase
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J Biol Inorg Chem (2007) 12:353–366 DOI 10.1007/s00775-006-0191-9
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J. Am. Chem. Soc., 2004, 126 (28), pp 8614–8615 DOI: 10.1021/ja0490222
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Dissertação para obtenção do Grau de Doutor em Bioquímica, Especialidade Bioquímica Estrutural
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Dissertação para obtenção do Grau de Doutor em Bioquímica – Ramo Bioquímica Estrutural