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The KID-syndrome in Finland. A report of four cases 总被引:2,自引:0,他引:2
K Tuppurainen J Fr?ki S Karjalainen L Palj?rvi R Suhonen M Ryyn?nen 《Acta ophthalmologica》1988,66(6):692-698
We describe a rare syndrome in a Finnish family, in which the father and his two sons are congenitally deaf and also exhibit corneal vascularization, and hyperkeratosis of the skin of the palms, soles, elbows and knees. In addition, all 3 suffer from fungal infections of the skin and nails. We also describe a fourth, sporadic case of a 9-year-old girl with the same disease. The KID (k = keratitis, i = ichthyosis, d = deafness) syndrome is an ectodermal dysplasia that probably arises through mutation, and is transmitted as an autosomal dominant in the family described by us. 相似文献
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Thomas Zeiler MD Antti Taivainen MD PhD Marja Rytkönen PhD Jaakko Rautiainen MSc Henry Karjalainen PhD Rauno Mäntjärvi MD PhD Leena Tuomisto MD PhD Tuomas Virtanen MD PhD 《The Journal of allergy and clinical immunology》1997,100(6):721-727
Background: Lately, renewed interest has arisen in the new forms of allergen immunotherapy because they may offer alternatives for drug treatment. Objective: The purpose of this study was to develop a well-characterized preparation of the main respiratory cow dander allergen, Bos d 2, with attenuated allergenic activity. Methods: The immunologic characteristics of Bos d 2 preparations were studied by indirect IgE ELISA, ELISA inhibition, Western blotting, histamine release, skin prick tests, and the proliferation tests of allergen-specific T-cell clones. Results: The complete recombinant Bos d 2 was observed to bind effectively, IgE of cow-allergic patients in indirect ELISA. In other experiments, the IgE-binding capacity of recombinant Bos d 2 proved to be lower compared with native Bos d 2. When the two overlapping recombinant fragments of Bos d 2 (corresponding amino acids 1-131 and 81-172, respectively) covering the whole molecule were compared with the complete recombinant Bos d 2 with several methods, only a low level of residual reactivity was observed. For example, recombinant fragments could not bind antibody at all in ELISA inhibition tests retaining, however, some reactivity in skin prick tests. In contrast, the fragments were able to stimulate vigorously Bos d 2-specific T-cell clones. Conclusion: The approach we have taken may offer a simple and reproducible way to produce hypoallergenic preparations for immunotherapy, circumventing simultaneously some of the problems of other experimental methods such as individual T-cell epitope recognition in peptide-based immunotherapy. (J Allergy Clin Immunol 1997;100:721-7.) 相似文献
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Calcium and other salivary factors in periodontitis-affected subjects prior to treatment 总被引:2,自引:0,他引:2
L. A. Sewón S. M. Karjalainen M. Sainio O. Seppä 《Journal of clinical periodontology》1995,22(4):267-270
Abstract Salivary calcium was shown to be higher in treated periodontitis-affected subjects (P+) than in periodontitis-free patients (P?). Here the aim was to study whether differences in calcium or other salivary factors exist prior to treatment. The test group consisted of 20 (15 men, 5 women) periodontitis-affected subjects and the control group 15 subjects (10 men, 5 women) free from periodontitis. Paraffin-stimulated whole saliva was collected to determine the flow-rate, calcium and phosphate concentrations, pH, buffering capacity, numbers of mutans streptococci, lactobacilli and yeasts. The results showed a higher calcium concentration (p < 0.05) in the P+ group (x?: 1.68 mmol/l; SE: 0.06 in men and x?: 1.49 mmol/l; SE: 0.10 in women) than in the P-group (x?: 1.48 mmol/l; SE: 0.09 in men and x?: 1.18 mmol/l; SE: 0.10 in women). The P+ group had more intact teeth (x?±SE: 9.9±0.8 in men and 11.2±2.0 in women) than the P-group (x?± SE: 8.3±0.7 in men and 8.2±2.4 in women). The present findings may indicate that an elevated level of salivary Ca is characteristic of P+ patients both before and after periodontal treatment. 相似文献
6.
Mohamed Guled Samuel Myllykangas Henry F Frierson Stacey E Mills Sakari Knuutila Edward B Stelow 《Modern pathology》2008,21(6):770-778
Olfactory neuroblastoma is an unusual neuroectodermal malignancy, which is thought to arise at the olfactory membrane of the sinonasal tract. Due to its rarity, little is understood regarding its molecular and cytogenetic abnormalities. The aim of the current study is to identify specific DNA copy number changes in olfactory neuroblastoma. Thirteen dissected tissue samples were analyzed using array comparative genomic hybridization. Our results show that gene copy number profiles of olfactory neuroblastoma samples are complex. The most frequent changes included gains at 7q11.22-q21.11, 9p13.3, 13q, 20p/q, and Xp/q, and losses at 2q31.1, 2q33.3, 2q37.1, 6q16.3, 6q21.33, 6q22.1, 22q11.23, 22q12.1, and Xp/q. Gains were more frequent than losses, and high-stage tumors showed more alterations than low-stage olfactory neuroblastoma. Frequent changes in high-stage tumors were gains at 13q14.2-q14.3, 13q31.1, and 20q11.21-q11.23, and loss of Xp21.1 (in 66% of cases). Gains at 5q35, 13q, and 20q, and losses at 2q31.1, 2q33.3, and 6q16-q22, were present in 50% of cases. The identified regions of gene copy number change have been implicated in a variety of tumors, especially carcinomas. In addition, our results indicate that gains in 20q and 13q may be important in the progression of this cancer, and that these regions possibly harbor genes with functional relevance in olfactory neuroblastoma. 相似文献
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Immunization of hamsters with purified BK virus (BKV) followed by transplantation of BKV-induced hamster tumour cells revealed a tumour specific transplantation antigen (TSTA) in these cells. The antigen did not cross-react with the TSTA of SV40 since immunization with BKV did not protect against challenge of SV40 tumour cells. 相似文献
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R. Mäntyjärvi H. Sarkkinen S. Parkkinen A. Ryhänen H. Karjalainen K. Syrjänen S. Syrjänen 《Archives of virology》1988,100(1-2):17-25
Summary Cultures of primary fibroblasts of C57BL/6J mice were used as targets for transformation by bovine papillomavirus type 1 (BPV1) DNA. Although no foci were observed, several lines of transformed cells were established by subculturing. These immortalized cell lines had in vitro growth characteristics in high and low serum media and saturation densities typical of transformed cells. Karyotype analyses revealed extensive aneuploidic changes. In two of the three cell lines analyzed, viral DNA was present in monomeric episomal form, in the third cell line all viral sequences were found in the high molecular weight region of a Southern blot. Despite the transformed phenotype, only one of the cell lines was tumorigenic in nude mice at a low level. 相似文献