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A family including three children with DiGeorge syndrome is described. One child died in the neonatal period from cardiac anomalies accompanying complete DiGeorge syndrome. The two surviving siblings shared a common set of pharyngeal pouch anomalies and immunodeficiency consistent with partial DiGeorge syndrome, and other morphologic anomalies characteristic of the velocardiofacial syndrome with which familial DiGeorge syndrome is associated (reviewed in reference 1). Both had normal karyotypes. Both presented with recurrent otitis media and sinopulmonary infections, CD4+ T cell lymphopenia, and defective DCH skin test responses to recall T cell antigens. Both had low serum IgM levels and IgG4 levels at the lower limits of normal. Immunization with bacterial polysaccharides resulted in impaired IgG antibody responses to the same set of antigens (H. influenzae polyribophosphate and S. pneumoniae capsular serotypes 9N and 14), while responses to protein antigens were intact. Both siblings were treated successfully with intravenous gamma globulin. The pattern of selective antibody deficiency in these patients with familial DiGeorge syndrome suggests a heritable lesion in certain regulatory antipolysaccharide CD4+ T cell subpopulations. 相似文献
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Linda Z Holland Kristen A Panfilio Roger Chastain Michael Schubert Nicholas D Holland 《Developmental dynamics》2005,233(4):1430-1443
In vertebrate development, Wnt/beta-catenin signaling has an early role in specification of dorsal/anterior identity and a late one in posterior specification. To understand the evolution of these roles, we cloned beta-catenin from the invertebrate chordate amphioxus. The exon/intron organization of beta-catenin is highly conserved between amphioxus and other animals including a cnidarian, but not Drosophila. In development, amphioxus beta-catenin is concentrated in all nuclei from the 16-cell stage until the onset of gastrulation when it becomes undetectable in presumptive mesendoderm. Li(+), which up-regulates Wnt/beta-catenin signaling, had no detectable effect on axial patterning when applied before the late blastula stage, suggesting that a role for beta-catenin in specification of dorsal/anterior identity may be a vertebrate innovation. From the mid-gastrula through the neurula stage, the highest levels of nuclear beta-catenin are around the blastopore. In the early neurula, beta-catenin is down-regulated in the neural plate, but remains high in adjacent non-neural ectoderm. Embryos treated with Li(+) at the late blastula stage are markedly posteriorized and lack a neural plate. These results suggest that in amphioxus, as in vertebrates, down-regulation of Wnt/beta-catenin signaling in the neural plate is necessary for maintenance of the neuroectoderm and that a major evolutionarily conserved role of Wnt/beta-catenin signaling is to specify posterior identity and pattern the anterior/posterior axis. 相似文献
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Straube E Knöfel B Schneider T Schubert S Wetzker R 《International journal of medical microbiology : IJMM》2000,290(1):65-73
Adhesion to and internalization into host cells is an essential step in the pathogenesis of various bacterial infections. Here we investigated the effects of growth factors on the internalization of Escherichia coli O18 strains isolated from patients with urinary tract infection (UTI) by human epithelial cells. A dramatic increase in the uptake of Escherichia coli was observed after treatment of epithelial cells with epidermal growth factor (EGF) and to a lower extent with insulin. EGF-dependent internalization can be suppressed by tyrosine kinase inhibitors suggesting an involvement of the receptor tyrosine kinases in the regulation of the endocytotic process. Inhibitors of phospholipase A2, lipoxygenase, and cyclooxygenase significantly decreased internalization of bacteria induced by EGF. Finally, the specific inhibitor of PI 3-kinases Wortmannin was shown to suppress completely the EGF-independent internalization. The data of this analysis indicate the involvement of several signaling paths in bacterial internalization of uropathogenic Escherichia coli O18 strains and contribute to the comprehension of the pathogenesis of recurrent UTI. 相似文献
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Zusammenfassung Mit cytochemischer Methodik wurde die Aktivität von saurer Phosphatase, bei pH 7,2 wirksamen Phosphatasen, alkalischer Phosphatase, unspezifischen Esterasen und Aminopeptidase in Knochenmarkausstrichen von 200 Patienten mit verschiedenen Erkrankungen und reaktiven Knochenmarksveränderungen sowie 38 Patienten mit Plasmocytom, darunter ein Fall von Plasmazellenleukämie, untersucht.
Normale Plasmazellen zeichnen sich durch deutliche ATPase-Aktivität, eine mäßige Aktivität von saurer Phosphatase und durch schwache Esteraseaktivität aus. Keine Fermentreaktion fand sich bei Verwendung der Substrate Glycerophosphat, Adenosin-5- und Adenosin-3-monophosphat, beim Nachweis der alkalischen Phosphatase, der Aminopeptidase und bei Benutzung von Naphthol-AS-D-chloracetat als Substrat für den Esterasenachweis.
Myelomzellen zeichnen sich durch verstärkte Aktivität von saurer Phosphatase und unspezifischer Naphthol-Esterase aus. Die ATPase-Aktivität ist im Vergleich zu normalen Plasmazellen deutlich vermindert oder fehlt völlig.Die mögliche Bedeutung der Befunde wird erörtert.Mit Unterstützung der Deutschen Forschungsgemeinschaft. 相似文献
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Schubert B Canis M Darcha C Artonne C Pouly JL Déchelotte P Boucher D Grizard G 《Human reproduction (Oxford, England)》2005,20(7):1786-1792
BACKGROUND: The scarcity of human ovarian tissue is a major problem in developing research on ovarian cryopreservation. We were interested in ovarian cortex surrounding benign ovarian cysts harvested during their requisite operations. METHODS: Ovarian tissue was collected from 25 women (mean age = 27.7 +/- 1.0 SEM) and frozen in serum-free cryoprotective medium. Histological and viability analysis were performed on fresh and frozen-thawed slices of tissue. RESULTS: Dermoid (n = 7), endometriosis (n = 13) and serous (n = 5) cysts were observed. Follicular densities (expressed per mm3) in ovarian cortex surrounding dermoid cysts were higher than in endometriosis and serous cysts for both histological (median of follicular densities: 13.04, 0.31 and 0.89 respectively) and viability analysis (2.93, 0.05 and 0.71 respectively). Freezing-thawing did not result in gross abnormality of follicle population either in number or morphology (80% of follicles preserved a normal pattern). However, a slight decrease of the density of living follicles (expressed per mm2) was reported. CONCLUSIONS: Ovarian cortex surrounding ovarian cysts, especially dermoid cysts, could be considered a source of ovarian tissue for future research. In our study, the cryopreservation procedure resulted in high follicular survival assessed by both histological and viability analysis. Nevertheless, further studies of in vivo and in vitro follicular maturation are needed to strengthen this model. 相似文献
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