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101.
102.
van der Loo B Oechslin E Jenni R 《The New England journal of medicine》2002,347(12):949; author reply 949
103.
Sasse-Klaassen S Gerull B Oechslin E Jenni R Thierfelder L 《American journal of medical genetics. Part A》2003,(2):162-167
Isolated noncompaction of the ventricular myocardium (INVM, MIM 300183 and 604169) is a congenital unclassified cardiomyopathy with numerous prominent trabeculations and deep intertrabecular recesses in a hypertrophied and hypokinetic myocardium. Mutations in the G4.5 gene result in a wide spectrum of severe infantile X-linked cardiomyopathic phenotypes including Barth syndrome with dilated cardiomyopathy and INVM. Molecular genetic analysis of INVM has only been performed in pediatric patients. Although adult INVM patients show similar cardiac abnormalities, the influence of genetic factors, especially of mutations in G4.5, is unknown. We analyzed 25 adult INVM patients for the presence of mutations in the G4.5 gene and performed a pedigree analysis of probands. Mutations were not found in the coding sequence or splice sites of G4.5. Systematic analysis of relatives from seven of nine probands showed multiple affected members consistent with an autosomal dominant pattern of inheritance in the majority of cases. We conclude that INVM in the adult is an autosomal dominant disorder rarely caused by mutations in G4.5 and therefore genetically distinct from infantile X-linked cases. 相似文献
104.
Studies on the origin of redox enzymes in seminal plasma and their relationship with results of in-vitro fertilization 总被引:3,自引:0,他引:3
Yeung CH; Cooper TG; De Geyter M; De Geyter C; Rolf C; Kamischke A; Nieschlag E 《Molecular human reproduction》1998,4(9):835-839
Glutathione (GSH), GSH peroxidase (GPX), GSH reductase (GRD), superoxide
dismutase (SOD) and catalase-like enzyme activity were quantified in
seminal plasma from normozoospermic patients, men with known distal ductal
occlusion, proven fathers and male partners of couples receiving in-vitro
fertilization (IVF) treatment for both male and female causes. Glutathione
was non-detectable (< 2.5 microM) in seminal plasma. None of the enzyme
activities per unit volume were lower in semen from vasectomized men,
suggesting that they did not originate substantially from the testis or
epididymis. The strongest relationships between enzyme activities and
accessory gland markers were between zinc and GRD (r = 0.678), SOD (r =
0.602) and GPX (r = 0.548), suggesting a largely prostatic origin of these
enzymes. Only weak relationships between accessory gland markers and
catalase-like activity suggested a multi-glandular source of this enzyme.
There was no relationship between the activity of any of the enzymes in the
IVF patients with their fertilization rates in vitro or the establishment
of pregnancy after IVF. Nor was there any correlation of enzyme activity
with the morphology and percentage of motile spermatozoa in semen or with
the percentage motility of spermatozoa immediately after swim-up or after
overnight incubation. These findings suggest that the protective enzymes in
the seminal plasma are contributed largely by the prostate and little by
the epididymis, and that in most cases of IVF, they have no major influence
on the outcome.
相似文献
105.
Maries F. van den Broek David Kgi Rolf M. Zinkernagel Hans Hengartner 《European journal of immunology》1995,25(12):3514-3516
Adaptive immune surveillance by T cells against infections and tumors depends on the presence of antigenic peptides presented by major histocompatibility complex (MHC) molecules. If antigenic tumor-specific peptides or MHC class I molecules are absent, the adaptive T cell immune response fails. Natural killer (NK) cells seem to complement the specific T cells by recognizing target cells lacking MHC class I (e.g. RMA-S). The role of perforin, which is crucially involved in T cell and NK cell-mediated target cell lysis, was evaluated in mice lacking perforin with respect to their capacity to eliminate a syngeneic lymphoid tumor. Here, we show that growth of MHC class I? RMA-S tumor cells in unprimed mice was controlled by NK cells through perforin-dependent cytotoxicity. 相似文献
106.
Kronqvist M Johansson E Whitley P Olsson S Gafvelin G Scheynius A van Hage-Hamsten M 《International archives of allergy and immunology》2001,126(1):41-49
BACKGROUND: The major allergen of the dust mite Lepidoglyphus destructor, Lep d 2, has been produced as a recombinant allergen (rLep d 2) with IgE reactivity both in vivo and in vitro. A modified form of rLep d 2 (rLep d 2.6Cys) obtained by site-directed mutagenesis has been shown to have a reduced IgE reactivity in vitro. In this study we have compared the ability of rLep d 2 and rLep d 2.6Cys to elicit positive skin prick tests and cellular responses among L. destructor-sensitized subjects. METHODS: Seventeen subjects were skin prick-tested with rLep d 2, rLep d 2.6Cys, histamine and negative controls and 17-20 h later skin biopsy specimens were taken from the skin prick-tested sites. The biopsy specimens were stained immunohistochemically for EG2+, CD3+, CD1a+, mast cell tryptase+, and IgE+ cells. Dermal cell infiltrates were judged in hematoxylin and eosin staining. Total IgE and allergen-specific IgE were determined by CAP-RAST. RESULTS: Compared to rLep d 2, rLep d 2.6Cys induced significantly smaller and fewer skin prick test reactions (p < 0.001) and dermal cell infiltrates (p < 0.05). Further, rLep d 2.6Cys induced fewer EG2+ cells (p < 0.001) but more tryptase+ cells (p < 0.05) than rLep d 2. A positive RAST to rLep d 2 was obtained for 88.2% of the subjects, while only 35.2% displayed a positive RAST to rLep d 2.6Cys. CONCLUSION: This study demonstrates that rLep d 2.6Cys is less able to evoke IgE-mediated reactions and cellular responses, as measured both in skin and in serum, than rLep d 2. In the future this hypoallergenic derivative may be a promising candidate molecule for immunotherapy of L. destructor-allergic patients. 相似文献
107.
A Kierkegaard L Norgren C G Olsson J Castenfors G Persson S Persson 《Acta medica Scandinavica》1987,222(5):409-414
In order to detect deep vein thrombosis (DVT), 101 patients with acute medical or infectious disorders were examined with the 125I-fibrinogen uptake test. All patients were bedridden on admission and were scanned daily from the second to the eighth day. Thirteen patients developed a positive fibrinogen uptake test. Thus, if a positive test is interpreted as DVT, the incidence of DVT was 13% in our bedridden patients. Of the patients admitted because of heart disease or pneumonia 20% had DVT, but only 4% of those admitted with other diagnoses. Other clinical "risk factors" studied, could not identify patients who developed DVT. 相似文献
108.
G Fredrikson S Nilsson H Olsson L Bj?rck B Akerstr?m P Belfrage 《Journal of immunological methods》1987,97(1):65-70
The newly described immunoglobulin G-binding streptococcal surface protein, protein G, was used to prepare and characterize rabbit antibodies. The antibodies were directed against rat hormone-sensitive lipase, the rate-limiting enzyme in the hydrolysis of the triacylglycerols stored in adipose tissue. Antiserum was obtained after two injections with 20 micrograms enzyme protein, and the immunoglobulin fraction was obtained using a protein G-based solid-phase radioimmunoassay. The hydrolysis of acylglycerols by the enzyme was inhibited by the antibodies, and the enzyme could be efficiently removed from a solution using the antibodies and heat-killed streptococci expressing surface protein G. By Western blot and detection with 125I-protein G, the antibodies were found to selectively bind to hormone-sensitive lipase and to a smaller extent to two minor contaminants, possibly proteolytic fragments of the lipase. The amount of 125I-labelled protein G bound to the lipase on the blot was quantitatively related to the amount of enzyme protein down to the detection limit 10 ng. 相似文献
109.
Detection of perforin and granzyme A mRNA in infiltrating cells during infection of mice with lymphocytic choriomeningitis virus 总被引:12,自引:0,他引:12
Christoph Müller David Kgi Toni Aebischer Bernhard Odermatt Werner Held Eckhard R. Podack Rolf M. Zinkernagel Hans Hengartner 《European journal of immunology》1989,19(7):1253-1259
The analysis of gene expression in cytotoxic T cells by in situ hybridization of serial liver and brain sections from mice infected with lymphocytic choriomeningitis virus (LCMV) and immunostaining with T cell marker- and virus-specific antibodies revealed a close histological association of infiltrating lymphocytes expressing the perforin and granzyme A genes with virally infected cells. Maximal frequency of perforin and granzyme A mRNA-containing cells on liver sections preceded by about 2 days maximal LCMV-specific cytotoxicity of the lymphoid liver infiltrating cells. These results are most consistent with an involvement of perforin and granzyme A in cell-mediated cytotoxicity in vivo. 相似文献
110.
Correction of EOG Artifacts in Event-Related Potentials of the EEG: Aspects of Reliability and Validity 总被引:3,自引:0,他引:3
Correction of EOG artifacts using a regression approach is evaluated in terms of reliability and validity. Transmission rates are estimated for eight EEG channels in 67 subjects. The trimmed group means of these rates are shown to provide reliable measures. Eye artifact correction based on these group means is superior to the conventional rejection in terms of reducing correlation between EOG and EEG. 相似文献