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We report a 20 month old female patient with diploid-triploid mixoploidy (46,XX/69,XXX) syndrome with hypothyroidism and precocious puberty. The triploid cell line was only expressed in the fibroblast culture and comprised the majority (95%) of the cells. Chromosome analysis of the fetal blood sample and peripheral blood sample were normal. The patient shows typical features of full triploidy (growth and severe mental retardation, cranial and facial dysmorphism, complete syndactyly of fingers 3/4, partial syndactyly of toes 2/3) and facial but no body asymmetry. At the age of 5 months central hypothyroidism and precocious puberty were diagnosed. Thin pigmented streaks were visible on the wrists and legs of the patient at the age of 16 months. This is the first patient reported so far with 46,XX/69,XXX mixoploidy suffering from hypothyroidism and precocious puberty. 相似文献
3.
Xanthan gum is an exopolysaccharide secreted by the bacterium Xanthamonas campestris whose ability to make solutions viscous at low concentrations and over a pH and temperature range have generated much interest in both academic and industrial environments. Mutant Xanthamonas strains have been derived that produce xanthan gums with an altered or variant subunit chemical structure and different measured viscosities when compared with the wild type (wt) form of the polymer. Two variant gums were targeted as potentially interesting in this study, these being the nonacetylated tetramer (natet) and the acetylated tetramer (atet), which both lack a side-chain terminal mannose residue and in one case (natet) lacks an acetate group on an internal mannose residue. Solutions of these tetrameric gums possess viscosities higher (natet) and lower (atet) than the wt gum, and therefore we have attempted to determine whether these molecules possess unique conformational preferences when compared with the wt and with each other. In this manner we can initiate an understanding of how a polysaccharide's conformation contributes to its solution properties. The GEGOP software permits a sampling of the static and dynamic equilibrium states of carbohydrate molecules, and this software was employed to calculate equilibrium states of representative oligosaccharides with chemical structures representative of xanthan-like molecules. Energy minimization techniques revealed similar local minima for all three molecules. Some of these minima are comprised of elongate backbone conformations (A type) in which side chains fold onto backbone surfaces. Other minima with A backbones possessed side chains in less intimate backbone contact especially when calculations were performed with a low dielectric constant. This phenomenon was particularly pronounced in the wt molecule where an increased number of negatively charged side-chain residues experience charge repulsion resulting in reduced side-chain-backbone contact. Metropolis Monte Carlo (MMC) dynamic simulations performed with an elevated temperature factor (1000 K) allowed a better qualitative representation of conformational space than 300 K simulations. Employing a nonhierarchical cluster analysis method (population density profile: PDP) coupled with a classification scheme, it was possible to partition resulting MMC data sets into conformational families. This analysis revealed that in simulations performed with different dielectric constant values (10, 25, and infinity) all molecules possessed primarily A-type backbones. Less elongate, more open helical backbone forms (B, C, D, J, and Flat-a) did occur during the simulations but were populated to a lesser extent. In the natet molecule significantly open helical backbones existed (E, F, G, H, and I) that did not occur in the lower viscosity wt and atet molecules. PDP clustering methods and subsequent conformational classification applied to the first residue (mannose) of the side chain permitted a determination of side-chain orientation. Comparison of all three molecules indicated a larger population of side-chain conformational families in less direct backbone contact for the wt molecule than either of the variant molecules (natet/atet) suggesting that the side chains in the wt are more flexible. Thus, a major conformational difference between the high viscosity natet and the lower viscosities of the wt/atet is the increased amount of open helical backbone in the natet. In addition, the significant difference between the higher viscosity wt and the lower viscosity atet is the increase side-chain flexibility in the wt. We hypothesize that conformational differences of this kind could form a partial explanation of the observed differences in viscosity between these xanthan-like polymers. 相似文献
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5.
Conversion of acrylonitrile-based precursors to carbon fibres 总被引:1,自引:0,他引:1
Mukesh K. Jain M. Balasubramanian P. Desai A. S. Abhiraman 《Journal of Materials Science》1987,22(1):301-312
The progress of stabilization of two compositions of acrylic fibres with various orientations has been followed by a variety of techniques. The thermooxidative treatments for stabilization have been carried out in a continuous process and also in a batch process under free shrinkage, constant length and constant tension conditions. The morphological model of acrylic fibres consists of an alternating sequence of laterally ordered and laterally disordered regions along the fibre direction. This structure is consistent with the observations based on small-angle X-ray scattering of copper- impregnated precursor fibres and thermomechanical response, thermal stress development, calorimetry, wide- and small-angle X-ray scattering and sonic modu-lus measured at different extents of stabilization. Lateral as well as orientational order in these fibres can be increased markedly through a high-temperature deformation process prior to stabilization. An increase in perfection and extent of order is observed in the early stages of stabilization. There is also a simultaneous decrease in the orientation of the disordered phase at this stage and the extent of this decrease depends on the axial constraints imposed on the fibre. Little difference in the rate of stabilization is observed as measured by density or oxygen uptake for fibres with different extents of orientation, lateral order or restraint. Fibres containing itaconic add, a stabilization catalyst did show an increased rate of stabilization. Inferences have been drawn regarding additional research pertaining to achieving high order in precursor fibres, minimizing orientational relaxation during oxidative stabilization, and the techniques for monitoring the extents of the stabilization treatment and the changes in relevant morphological parameters. 相似文献
6.
Alexander Chroneos Nicholas J. Ashley Kaajal H. Desai John F. Maguire R. W. Grimes 《Journal of Materials Science》2007,42(6):2024-2029
The structures of a number of hydroxide and oxyhydroxide minerals have previously been reported without the hydrogen positions
explicitly defined. Here we use two atomic scale computer simulation techniques, one based on classical ionic potentials,
the other on density functional theory (DFT), to predict these positions. The aim is not only to provide data that can be
used as the basis for future experimental structure optimizations but also model parameters that can be used to predict complex
hydroxide structures. The efficacy of the approach is demonstrated through the comparison of predicted and experimental data
for minerals whose hydrogen positions are known. 相似文献
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This paper examines the feasibility of extracting three-dimensional (3-D) or topographic information in spotlight mode stereo synthetic aperture radar (SAR). A display of a SAR (intensity) image has two axes: range and cross-range. Elevated scatterers appear closer in range; this phenomenon is called radar image layover. How the height of each scatterer can be computed from the difference in its layover between two images is investigated. This is analogous to computing height from disparity distance (triangulation) in optical stereo. The same procedure can be applied on pixel by pixel basis for terrain elevation mapping. A general expression is derived for the accuracy of the height estimate as a function of the range resolution and the angular difference between the image planes. Accuracy increases as the angle between the image planes increases, but the bright scatterers in one image tend to fade in the other image. This limited angular persistence of radar scatterers is also discussed. Trajectories for data collection are examined that provide near-optimal height estimates while eliminating the scatterer persistency problem. 相似文献
9.
Hepatitis B virus (HBV) infection is a major health problem in the United States; in 1995, approximately 128,000 cases occurred. Transmission of HBV occurs primarily by blood exchange (eg, by shared needles during injection drug use) and by sexual contact. Persons infected early in life are much more likely to become chronically infected than those infected during adulthood: as many as 90% of infants infected perinatally develop chronic infection and up to 25% will die of HBV-related chronic liver disease as adults. Clinical signs of acute hepatitis occur in about 50% of infected adults but in only 5% of infected preschool-aged children. In the United States, hepatitis B vaccine is currently made by recombinant DNA technology using baker's yeast. Preexposure vaccination results in protective antibody levels in almost all infants and children (> 95%) and healthy adults younger than 40 years of age (> 90%). The most common adverse event following administration of hepatitis B vaccine is pain at the injection site, which occurs in 13% to 29% of adult and 3% to 9% of children. A comprehensive hepatitis B vaccination policy is now recommended that includes (1) routine infant vaccination; (2) catch-up vaccination of 11- to 12-year-olds who were not previously vaccinated; (3) catch-up vaccination of young children at high risk for infection; (4) vaccination of adolescents and adults based on lifestyle or environmental, medical, and occupational situations that place them at risk; and (5) prevention of perinatal HBV infection. 相似文献
10.
The majority of patients with soft tissue or bone sarcomas of the upper extremity can be treated today with limb-saving procedures using combined modality therapies. For patients with a tumor in the shoulder area, sometimes an interscapulothoracic amputation is the only radical surgical treatment. However, in selected cases, in which the tumor does not involve the neurovascular bundle, a limb-sparing alternative might be the Tikhoff-Linberg resection. Normal function of the hand and forearm, with reasonable function of the elbow, can be maintained by this procedure. Four case histories are reported. 相似文献