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61.
Turner syndrome is the complex human phenotype associated with complete or partial monosomy X. Principle features of Turner syndrome include short stature, ovarian failure, and a variety of other anatomic and physiological abnormalities, such as webbed neck, lymphedema, cardiovascular and renal anomalies, hypertension, and autoimmune thyroid disease. We studied 28 apparently nonmosaic subjects with partial deletions of Xp, in order to map loci responsible for various components of the Turner syndrome phenotype. Subjects were carefully evaluated for the presence or absence of Turner syndrome features, and their deletions were mapped by FISH with a panel of Xp markers. Using a statistical method to examine genotype/phenotype correlations, we mapped one or more Turner syndrome traits to a critical region in Xp11.2-p22.1. These traits included short stature, ovarian failure, high-arched palate, and autoimmune thyroid disease. The results are useful for genetic counseling of individuals with partial monosomy X. Study of additional subjects should refine the localization of Turner syndrome loci and provide a rational basis for exploration of candidate genes.  相似文献   
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Indirect immunofluorescence studies revealed that when fixed, permeabilized cultured human cells were incubated with ricin A chain, the toxin molecule localized in a staining pattern indicative of binding to the endoplasmic reticulum and to nucleoli. Chemical cross-linking experiments were performed to identify the cellular components that mediated the binding of ricin A chain. Conjugates were formed between 125I-labeled ricin A chain and two proteins present in preparations of total cell membranes and in samples of purified mammalian ribosomes. Specificity of the ricin A chain-ribosome interaction was demonstrated by inhibition of formation of the complexes by excess unlabeled ricin A chain, but not by excess unlabeled gelonin, another ribosome-inactivating protein. Complexes of ricin A chain cross-linked to the ribosomal proteins were purified and subjected to proteolytic digestion with trypsin. Amino acid sequencing of internal tryptic peptides enabled identification of the ricin A chain-binding proteins as L9 and L10e of the mammalian large ribosomal subunit.  相似文献   
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Mechanical shaping of an aluminium alloy reinforced with Al2O3 particulates, (Al2O3)p-Al, was carried out by a cold rolling operation. Rolling was performed unidirectionally in a direction perpendicular to the extrusion direction of the composite, until edge cracks formed. Cold rolling was found to cause particulate cracking and interfacial debonding, as wellas the redistribution of (Al2O3)p. These parameters have significant roles in determining the elastic properties of the resultant composite.  相似文献   
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The precipitation behavior of a medium carbon steel microalloyed with Ti, V, and N has been studied by analytical transmission electron microscopy in the as-cast and isothermally heat-treated states, as well as at different stages in the thermomechanical processing of the steel. Mixed (Ti,V) nitrides were found in all the structures, but there was no evidence for mixed carbonitride formation. The Hillert-Staffansson model was used to predict the composition of the nitrides as a function of tem-perature. Upon prolonged aging many of the precipitates became “fragmented” and were no longer single crystals. At the same time, the volume fraction of precipitates dropped, while their average Ti content increased. Possible explanations for this unexpected behavior are discussed in this article.  相似文献   
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From position of the uniform concept of the accident medicine the problems of toxicological supply of the ships of MNF are considered. Peculiarities of chemical accidents in the ship conditions are marked. The question about principles of harmful chemical substances regulating, forming air environment of ship living quarters is discussed. The prospects of practical use of antidotal means, intended for protection of personnel from toxic action of carbon dioxide and chemical combinations, causing development of toxic edema of lungs are given.  相似文献   
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A patient with the acquired immunodeficiency syndrome developed bilateral retinitis due to a Bartonella (formerly Rochalimaea) henselae infection. A retinal biopsy was performed when severe and progressive retinal infection failed to respond to empirical treatment for cytomegalovirus and Toxoplasma gondii. The biopsy specimen was stained with routine histopathological stains and the Steiner silver stain. Ribosomal DNA was extracted from formalinfixed, paraffin-embedded retinal tissue and amplified with the polymerase chain reaction assay, using Bartonella-specific primers. The amplified DNA fragment was cloned and sequenced. Staining with hematoxylin-eosin revealed tufts of proliferating vascular endothelium with numerous fusiformappearing cells, consistent with a diagnosis of bacillary angiomatosis. A Steiner silver stain revealed numerous small bacilli in the biopsy specimen. Amplification of DNA extracted from the tissue produced a fragment of 16S ribosomal DNA of the expected size; sequencing of the DNA fragment revealed that the infection was caused by B henselae. The retinal infection was treated with minocycline, doxycycline, and ciprofloxacin with improvement in visual acuity in the ensuing 12 weeks. To our knowledge, this is the first human immunodeficiency virus-infected patient with retinitis due to B henselae who was diagnosed by the identification of silver-staining bacilli and amplification and sequencing of B henselae with a polymerase chain reaction assay using a biopsy specimen of retinal tissue. Retinal biopsy is indicated, despite its potential for serious complications, in patients with acquired immunodeficiency syndrome who have a progressive, sight-threatening retinitis that is undiagnosed and unresponsive to therapy.  相似文献   
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