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Three cases of cri du chat syndrome with varying ages of presentation are compared and contrasted to highlight the clinical features and evolution of the phenotype with time. 相似文献
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Owing to the short wavelengths of X-radiation X-ray microscopes allow higher resolution than optical microscopes. In contrast to electron microscopes, X-radiation can be used to study relatively thick aqueous specimens in their natural environment. X-ray microscopes require intense X-radiation, which is best provided by electron storage rings, as well as efficient X-ray optics. X-ray microscopes with zone plate optics are installed at the storage ring BESSY in Berlin for studies in the fields of biology, medicine, biophysics, colloid chemistry, and soil sciences. 相似文献
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VA Shabalov AG Melikian AL Kadin NV Arutiunov AV Golanov AV Shtok IuI Shcherbina 《Canadian Metallurgical Quarterly》1998,41(3):3-6
The pool of free purine derivatives and activities of the key enzymes of purine metabolism (adenosine deaminase, purine nucleoside phosphorylase, and 5'-nucleotidase) in lymphocytes, erythrocytes, and epidermis homogenates were measured in 20 normal subjects and 15 patients with psoriasis by high-performance liquid chromatography. The levels of AMP, GMP, and IMP purine monophosphates are decreased in the epidermis and red cells of psoriasis patients, whereas the final products of hypoxanthine, xanthine, and uric acid metabolism are accumulating, and the activities of ADA and PNP are increased double in the skin, all this indicating purine derivatives catabolism. 相似文献
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A new classification of motor disorders in patients after brain hemisphere's stroke as well as with its sequelae was proposed on the basis of clinical electromyographic studies. The classification validity was confirmed by mathematic statistic methods. The classification was composed of motor syndromes and is based on the following criteria: the severity of paresis, the correlation between gravity of paresis of the upper and lower limbs, muscular spasticity, alteration of integral estimation of active movements (the motor algorithm). The most informative signs of classification are the following: the paresis gravity, the degree of muscular spasticity, the alteration of motor algorithm, the parameters of stimulative electromyography. The described classification permits to carry out differentiated actions of neurorehabilitation directed to intensification of effectivity of treatment after hemisphere's stroke. 相似文献
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Ferric nitrilotriacetate (Fe-NTA) induces renal proximal tubular damage that ultimately leads to a high incidence of renal cell carcinoma (RCC) in rats. The RCCs are characterized by 1) high incidence of pulmonary metastasis and peritoneal invasion, 2) high incidence of tumor-associated mortality and 3) possible involvement of reactive oxygen species in carcinogenesis. The present study investigated the possible role of Tsc2 and VHL tumor suppressor genes in this model. Thirty-four Fe-NTA-induced primary RCCs and 20 other primary or metastatic tumors of rats were searched for genetic alteration in all the coding exons of both genes by polymerase chain reaction-single-strand-conformation polymorphism analysis and sequencing in conjunction with morphological evaluation. In the Fe-NTA-induced RCCs, frequency of metastasis or invasion was proportionally associated with the nuclear grade of the tumor (grades 1-3). Only one Fe-NTA-induced RCC of grade 1 revealed missense mutations with loss of heterozygosity in exon 10 of the Tsc2 gene (codons 334, GTG (Val) to GCG (Ala), and 336, TAT (Tyr) to CAT (His). No mutation was found in the VHL gene. The results suggest that 1) high-grade RCCs can develop in the absence of mutations in the Tsc2 and VHL genes in rats, and that 2) Tsc2 gene somatic mutation can nonetheless be one of the causes of non-Eker rat RCCs. 相似文献
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