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991.
The case report presents a 25-year-old woman who got pregnant twice in 1 year. Both pregnancies were terminated after ultrasound examination demonstrated limb abnormalities. Radiological and pathological examinations showed diastrophic dysplasia, a rare form of an osteochondrodysplasia with autosomal recessive inheritance. Here the histopathological findings in the cartilage and prenatal diagnosis by ultrasound are discussed. 相似文献
992.
M. A. García-Pérez C. Climent P. Briones M. A. Vilaseca M. Rodés V. Rubio 《Journal of inherited metabolic disease》1997,20(6):769-777
Mutations P225L and P225R were identified in codon 225 of the gene for ornithine transcarbamylase (OTC) in two patients with the neonatal form of OTC deficiency. The mutations occur at a CpG dinucleotide and eliminate a unique MspI restriction site in exon 7 of the OTC gene. They do not alter existing splice sites or create new sites, as judged from the nucleotide sequence. Both mutations are associated with undetectable levels of OTC antigen in liver homogenates, and with either complete lack of OTC activity (P225R mutation) or very small residual activity (0.15% of normal in the P225L mutation). The residual activity observed with P225L exhibits normal pH dependence, little or no increases in the Km values for ornithine and carbamoyl phosphate and normal stability at either 37°C or, in the presence of 0.66 mol/L urea, at 0°C. The latter conditions were used to examine whether the P225L mutation favours dissociation of the active OTC trimer. Given the normal stability and lack of tendency to dissociation of the mutant enzyme, it appears likely that the dramatic reduction in the level of OTC protein is due to inefficient conversion of the mutant OTC precursor polypeptide (pOTC) into the correctly localized, appropriately folded, mature enzyme trimer, suggesting degradation of pOTC in transit to the mitochondria. 相似文献
993.
Allergen content in dust from homes and schools in northern Norway in relation to sensitization and allergy symptoms in schoolchildren 总被引:2,自引:0,他引:2
L. K. DOTTERUD T. D. VAN B. KVAMMEN† T. DYBENDAL‡ S. ELSAYED E. S. FALK 《Clinical and experimental allergy》1997,27(3):252-261
Background Previous studies have shown a high prevalence of atopic diseases among school children in the community of Sør-Varanger. Moreover, animal dander followed by pollen und house dust mite, were the most common allergens in skin prick tests. Objective To assess the allergen content in homes (living-rooms and mattresses) and classrooms of children living in an arctic area at 70° north. The presence of allergens in homes and schools and their relationship to atopy was of particular interest. Methods Dust samples from 38 homes and seven schools in northern Norway were collected by vacuum cleaning. The presence of allergens of dog, birch, timothy, Cladosporium herbanun, codfish and hen egg-white was investigated by radio-allergosorbent test (RAST) inhibition and the presence of major allergens of cat Felis domesticus (Fel d I) and house dust mites (HDM) Dermatophagoides pteronyssinus (Derp I) and Dermatophagoides farinae (Derf I) by enzyme-linked immunosorbent assay (ELISA). Results Mattresses contained significantly more dust per unit area than living-rooms and classrooms. No statistically significant differences in allergen content for dog. birch, timothy, Cladosporium, codfish and hen egg-white were seen between HDM-sensitized and non-atopic children. Most dust samples contained dog allergens with the highest allergenic activity found in living-rooms of those keeping dogs. An increased level of Feld I was detected in only one of 38 samples from living-rooms (this family kept a cat) and in 25 of 38 samples from mattresses with ranges from 24 to 84ng/m2. The highest concentrations were found in mattresses of children keeping cats. Increased levels ( 25 ng/m2) of Derp I were found only in homes and virtually only in mattresses of HDM-sensitized children. An increased level of Derf] was found in only one case, i.e. in the mattress of an HDM-sensitized child where additionally Der p I and HDMs were demonstrated microscopically. When relating Der p I to HDMsensitization an odds ratio of more than 16 (95% Cl: 1.6–394.3) was found. All extracts from living-rooms included codfish allergens. Low RAST inhibition values were detected for hen egg-white, Cladosporium, birch and timothy pollen in most samples. Furthermore, the study demonstrated that dust from schools was relatively free of allergens. Conclusion Previous findings indicating that the main allergen exposure problem in this geographical area is that of pet allergens were confirmed. 相似文献
994.
An indirect immunofluorescence assay using a cell culture-derived antigen for detection of antibodies to the agent of human granulocytic ehrlichiosis. 总被引:18,自引:11,他引:7
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W L Nicholson J A Comer J W Sumner C Gingrich-Baker R T Coughlin L A Magnarelli J G Olson J E Childs 《Journal of clinical microbiology》1997,35(6):1510-1516
An indirect immunofluorescence assay for the detection of human antibodies to the agent of human granulocytic ehrlichiosis (HGE) was developed and standardized. Antigen was prepared from a human promyelocytic leukemia cell line (HL-60) infected with a tick-derived isolate of the HGE agent (USG3). Suitable antigen presentation and preservation of cellular morphology were obtained when infected cells were applied and cultured on the slide, excess medium was removed, and cells were fixed with acetone. Use of a buffer containing bovine serum albumin and goat serum reduced background fluorescence, and use of an immunoglobulin G (gamma-specific) conjugate reduced nonspecific binding. The assay readily detected specific antibody from HGE patients and did not detect antibody from healthy individuals. No significant reactivity was noted in sera from patients with high titers of antibodies to other rickettsial species. We were able to identify antibodies reactive to USG3 antigen in samples from areas where HGE is endemic that had tested negative to other rickettsial agents. Animal sera reactive against Ehrlichia equi or Ehrlichia phagocytophila bound to the HGE antigen, indicating that the assay may be useful for veterinary use. Comparability between two different laboratories was assessed by using coded human sera exchanged between laboratories. Results from the two laboratories were similar, indicating that the assay can be easily integrated into use for routine testing for HGE. The assay was then compared to an assay using horse neutrophils infected with ehrlichiae. The two assays gave comparable results, indicating that the cell culture-derived antigen can be used for testing samples that have been previously tested with E. equi as an antigen. The new assay offers several advantages over other immunofluorescence methods that use animal-derived antigen and is suitable for use in testing for human antibodies to the HGE agent. 相似文献
995.
Engineering human immunodeficiency virus 1 protease heterodimers as macromolecular inhibitors of viral maturation. 总被引:3,自引:0,他引:3
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F McPhee A C Good I D Kuntz C S Craik 《Proceedings of the National Academy of Sciences of the United States of America》1996,93(21):11477-11481
Dimerization of human immunodeficiency virus type 1 protease (HIV-1 PR) monomers is an essential prerequisite for viral proteolytic activity and the subsequent generation of infectious virus particles. Disruption of the dimer interface inhibits this activity as does formation of heterodimers between wild-type and defective monomers. A structure-based approach was used to identify amino acid substitutions at the dimer interface of HIV-1 PR that facilitate preferential association of heterodimers and inhibit self-association of the defective monomers. Expression of the designed PR monomers inhibits activity of wild-type HIV-1 PR and viral infectivity when assayed in an ex vivo model system. These results show that it is possible to design PR monomers as macromolecular inhibitors that may provide an alternative to small molecule inhibitors for the treatment of HIV infection. 相似文献
996.
A 60-year-old man developed hemiballismus due to an intracranial hemorrhage involving the subthalamic nucleus 8 weeks after orthotopic liver transplantation. The hemorrhage was thought to be due to alterations in cerebral blood flow following a period of hypotensive shock due to sepsis, in the presence of anticoagulant therapy and thrombocytopenia. This represents a rare neurologic complication of liver transplantation. 相似文献
997.
998.
R. LIBERMAN E.C. COMBE† V. PIDDOCK† C. PAWSON D.C. WATTS† 《Journal of oral rehabilitation》1995,22(6):445-449
SUMMARY Current standard specifications for the laboratory evaluation of denture base materials require subjective assessment of colour stability. This study evaluates a new objective measurement technique for translucent denture base materials, by comparing quantitative data with the results obtained from a standard subjective method. Preliminary work on three representative commercial acrylic materials resulted in the selection of a white background for the quantification of colour change of these translucent materials. One half of each sample was exposed to artificial sunlight for 24 h.
The colour of both exposed and unexposed resin was measured on the CIE L*a*b* scale using a photoelectric colorimeter. Significant changes in the b* and E* values (P < 0.001) were observed following light exposure. Objective data for a wide range of commercial materials were compared with the results of a subjective evaluation and it was shown that a change in b* of 1.5 units was discernable subjectively by eye for 100% of the cases. It is suggested that this method and limit value could form the basis of a new objective colour change specification for polymeric dental materials. 相似文献
The colour of both exposed and unexposed resin was measured on the CIE L*a*b* scale using a photoelectric colorimeter. Significant changes in the b* and E* values (P < 0.001) were observed following light exposure. Objective data for a wide range of commercial materials were compared with the results of a subjective evaluation and it was shown that a change in b* of 1.5 units was discernable subjectively by eye for 100% of the cases. It is suggested that this method and limit value could form the basis of a new objective colour change specification for polymeric dental materials. 相似文献
999.
1000.
J.I. Smedberg E. Lothigius I. Bodin A. Frykholm K. Nilner 《Clinical oral implants research》1993,4(1):39-46
In order to satisfy the need to restore the aesthetics, phonetics and comfort and to facilitate optimal hygiene procedures, 20 edentulous patients were treated with a new concept of overdenture therapy on implants ad modum Brånemark. After 24±3.5 months the patients were re‐examined. They were asked to answer a questionnaire and use a Visual Analogue Scale (VAS) to give their opinion on the prosthetic treatment. The results indicate that an implant‐retained overdenture in the maxilla with this design can satisfy the patients needs in aesthetics, phonetics and comfort and can 1 facilitate oral hygiene measures. 相似文献