768 resultados para X-Linked Intellectual Disability


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Background: The absence of an ear, which can be the result of a congenital malformation, surgical tumour resection or traumatic injury, is a significant aesthetic problem. Attachment of ear prostheses with adhesives can cause local irritation for the wearer and affect the colour of the prostheses. Use of implants in craniofacial reconstruction can improve the retention and stability of prostheses giving to patient greater comfort and security relative to adhesive attachment.Objective: The aim of this report was to present a clinical case of a mutilated patient who was rehabilitated by means of installing an ear prosthesis fixed through osseointegrated implants.Materials and methods: The patient had two implants installed in the mastoid region that were linked by a bar, and a clip-type system was used. The ear prosthesis was constructed from medical-use silicone, pigmented to match the patient's skin colour and linked to the retention system.Conclusion: The patient's rehabilitation was satisfactory from both a functional and an aesthetic point of view, making it possible for the patient to return to a normal social life and regain lost self-esteem.

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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The compounds [Fe(ch)(CO)(2)PP3] (1) (ch = chalcone) and [Fe(sba)(CO)(2)PPh3] (2) (sba = sorbic acid) were prepared by irradiating the tetracarbonyltriphenylphosphineiron(0) complex in benzene in the presence of ch or sba. The compounds were characterized by infrared and P-31 NMR spectroscopies. Their electrochemical behavior was investigated by cyclic voltammetry and the results suggest that their oxidations occur by more than one electrochemical step, producing free ch and sba, free PPh3 and solvated Fe(III). It was observed that sba ligand contributes more effectively to the stabilization of metal center in these complexes, the X-ray crystal and molecular structures of 1 and 2 were determined; it was shown that the Fe atom adopts a distorted octahedral coordinated geometry in which three of the sites are occupied by the ch or sba ligand. The [Fe(ch)(CO)(2)PPh3] complex is a monomer and the unit cell of complex 2 contains exist two identical and crystallographically independent molecules of [Fe(sba)(CO)(2)PPh3] which are linked by short hydrogen bonds O-H . . .O (C) 2001 Published by Elsevier B.V. Ltd.

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The aggregation, gelation, and aging of urea-cross-linked siloxane-poly(oxyethylene) nanohybrids [(U600)-n] containing two different amounts of europium triflate initially dissolved in an ethanol-water mixture were investigated by in situ small-angle X-ray scattering (SAXS). For both low (n = [O]/[Eu] = 80) and high (n = 25) europium contents, the SAXS intensity was attributed to the formation of siloxane clusters of about 8-11 Angstrom in size. Siloxane cluster formation and growth is a rapid process in hybrids with low Eu contents and slow in Eu-rich hybrids. An additional contribution to the scattering intensity at very low angles was attributed to the formation of a coarse structure level. At this secondary level, the structure can be described as a set of dense domains containing siloxane clusters embedded in a depleted matrix composed of unfolded polymer chains and solvent. By fitting a theoretical function for this model to the experimental SAXS curves, relevant structural parameters were determined as functions of time during the sol-gel transition and gel aging. For hybrids with low europium contents (n = 80), the size of the siloxane clusters remains essentially invariant, whereas the dense segregation domains progressively grow. In hybrids with high doping contents (n = 25), the preponderant structure variation during the first stages of the sol-gel transformation is the slow growth of siloxane clusters. For these hybrids, the segregation of siloxane clusters forming dense domains occurs only during advanced stages of the process.

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Synthesis and X-ray structure of a dinuclear platinum(II) complex with the ligand saccharin(sac) are described. The structure shows two approximately square-planar platinum centers. Each platinum atom is coordinated to one water molecule and three N-bonded saccharinate ligands. The two centers are linked through two potassium atoms. Each potassium atom interacts with six oxygen atoms from hydration and coordinated water molecules and from carbonyl and sulfonate groups of the ligands. It is suggested that, in aqueous solution, the dimeric structure of the complex is dissociated and the monomeric species K[Pt(sac)(3)(H2O)] is formed. The complex was dissolved in water and submitted to in vitro cytotoxic analyses using HeLa cells (human cervix cancer). It was shown that the monomeric complex elicited a potent cytotoxic activity when compared to the vehicle-treated cells. The IC50 value for the monomeric complex is 6.8 mu M, a little bit higher than that obtained for cisplatin. (c) 2007 Elsevier B.V. All rights reserved.

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In this work, initial crystallographic studies of human haemoglobin (Hb) crystallized in isoionic and oxygen-free PEG solution are presented. Under these conditions, functional measurements of the O-2-linked binding of water molecules and release of protons have evidenced that Hb assumes an unforeseen new allosteric conformation. The determination of the high-resolution structure of the crystal of human deoxy-Hb fully stripped of anions may provide a structural explanation for the role of anions in the allosteric properties of Hb and, particularly, for the influence of chloride on the Bohr effect, the mechanism by which Hb oxygen affinity is regulated by pH. X-ray diffraction data were collected to 1.87 Angstrom resolution using a synchrotron-radiation source. Crystals belong to the space group P2(1)2(1)2 and preliminary analysis revealed the presence of one tetramer in the asymmetric unit. The structure is currently being refined using maximum-likelihood protocols.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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BACKGROUND: X-Fragile Syndrome. AIM: To compile information about the language, cognitive and behavior alterations in the X-Fragile Syndrome, using the results of previously published studies and to present the standardized instruments used as testing materials. CONCLUSION: studies used formal and informal testing to assess language. The results present variability regarding the linguistic deficits, which are influenced by the level of the cognitive deficit and behavior alterations. Alterations of the oral praxes and of speech articulation are also expected.

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Stem canker caused by the fungus Diaporthe phaseolorum f. sp. meridionalis is a disease that limits soybean cultivation. Phenotypic evaluations aiming at disease resistance require labor-intensive processes, as for instance handling and transport of phytopathogens. The use of DNA markers in the selective procedures eases certain phases, besides being practical, safe and reliable. A RAPD fragment of 588pb was identified among bulks of resistant and susceptible plants in the cross BR92-15454 (R) x IAC-11 (S). Through co-segregation, the distance between the resistance locus and the fragment was estimated at 7.4 ± 2.1 cM, with a Lodmax. of 23.072 (first year) and at 6.0 ± 3.4 cM with a Lodmax. of 7.806 (second year). The fragment was converted into a SCAR marker and digested with enzyme Hinc II, which made the classification in homozygous resistant, heterozygous resistant and susceptible plants possible. This SCAR marker is suitable for use in the improvement program conducted in Jaboticabal.

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Polymers blends represent an important approach to obtain materials with modulated properties to reach different and desired properties in designing drug delivery systems in order to fulfill therapeutic needs. The aim of this work was to evaluate the influence of drug loading and polymer ratio on the physicochemical properties of microparticles of cross-linked high amylose starch-pectin blends loaded with diclofenac for further application in controlled drug delivery systems. Thermal analysis and X-ray diffractograms evidenced the occurrence of drug-polymer interactions and the former pointed also to an increase in thermal stability due to drug loading. The rheological properties demonstrated that drug loading resulted in formation of weaker gels while the increase of pectin ratio contributes to origin stronger structures. © 2012 Elsevier Ltd.

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Polymers mixtures as well as cross-linking reactions are approaches that have been used successfully to modulate the polymers characteristics in order to improve the control over drug release rate. High amylose and pectin are polysaccharides frequently used to prepare drug delivery systems. Since the drying technique can strongly influence the properties of such systems, the aim of this work was to characterize high amylose/pectin mixtures cross-linked with sodium trimetaphosphate and dried by different techniques-oven and lyophilization. The results showed that samples dried by lyophilization presented reduced particle size, higher porosity and higher swelling ability than the samples dried in oven. Besides, lower thermal stability and different diffraction patterns showed by the former particles should reflect the structural changes as a function of drying technique. © 2013 Informa Healthcare USA, Inc.