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131.
Dr. F. Eberle C. Aßmus G. A. Martini 《Journal of molecular medicine (Berlin, Germany)》1979,57(10):499-509
Zusammenfassung 3 Generationen mit 37 Mitgliedern einer Familie mit multipler endokriner Adenomatose Typ I (MEA Typ I) wurden anamnestisch und katamnestisch erfaßt. Klinische, biochemische und histologische Befunde wurden zusammengestellt: 20 Personen hatten Erkrankungen oder Befunde, die für eine MEA Typ I charakteristisch sind.Ein Patient (II 1) hatte ein chromophobes Hypophysenadenom, Epithelkörperchen- und Inselzelladenome, eine knotige Kolloidstruma und eine bilaterale knotige Nebennierenrindenhyperplasie. Dies ist das voll ausgeprägte Bild einer MEA Typ I (Wermer-Syndrom). Außerdem hatte er ein medulläres Schilddrüsencarcinom.Bei 14 Familienangehörigen ergaben sich Hinweise auf primären Hyperparathyreoidismus (pHPT), darunter waren 5 Patienten mit Nierensteinen. Die bei 3 Personen exstirpierten Epithelkörperchen erlaubten eine histologische Bestätigung der Diagnose pHPT. Die nach Möglichkeit mehrmals durchgeführte Bestimmung des Calcium- und Phosphatspiegels im Serum spielte eine Hauptrolle bei der Entdeckung von asymptomatischen Trägern des Gens.6 Patienten hatten Magen-Darmulcera: darunter waren 5 Patienten mit sicherem oder wahrscheinlichem pHPT, von denen aber nur einer (II 1) ein Gastrinom und eine Inselzelladenomatose hatte. Drei Patienten hatten eine Pankreatitis, bei zwei von ihnen nachweislich kombiniert mit pHPT. — Zweimal fand sich eine euthyreote Struma, einmal eine hyperthyreote Struma. Zwei Familienangehörige hatten erhöhte Plasmacortisolwerte; Lipome im Unterhautfettgewebe hatten ebenfalls zwei Patienten. Der Befund eines Alpha-1-Antitrypsinmangels (ZZ Phänotyp) bei zumindest 2 Patienten mit pHPT läßt an eine genetisch bedingte Verknüpfung des Defektallels Z mit der MEA Typ I denken. Weitere Familienuntersuchungen sind für eine Beweisführung notwendig.Ein Polyp im Jejunum mit heterotoper Magenschleimhaut (Fundus- und Pylorusdrüsen) ausgekleidet und blutend wurde bei diesem Syndrome noch nicht beschrieben. Der Befund wird von uns als Entwicklungsstörung des Entoderm aufgefaßt. Das bei einem Patienten (II 1) gefundene medulläre Schilddrüsencarcinom zeigt, daß die Trennlinie zwischen MEA Typ I und MEA Typ II nicht immer scharf gezogen ist. 相似文献
132.
HGT1 encodes a high-affinity glutathione transporter in the yeast Saccharomyces cerevisiae that is induced under sulphur limitation. The present work demonstrates that repression by organic sulphur sources is under the control of the classic sulphur regulatory network, as seen by the absence of expression in a met4 background. Cysteine appeared to be the principal regulatory molecule, since elevated levels were seen in str4 strains (deficient in cysteine biosynthesis) that could be repressed by elevated levels of cysteine, but not by methionine or glutathione. Investigations into cis-regulatory elements revealed that the previously described motif, a 9-bp cis element, CCGCCACAC, located at the –356 to –364 region of the promoter could in fact be refined to a 7-bp CGCCACA motif that is also repeated at –333 to –340. The second copy of this motif was essential for activity, since mutations in the core region of the second copy completely abolished activity and regulation by sulphur sources. Activity, but not regulation, could be restored by reintroducing an additional copy upstream of the first copy. A third region, GCCGTCTGCAAGGCA, conserved in the HGT1 promoters of the different Saccharomyces spp, was observed at –300 to –285 but, while mutations in this region did not lead to any loss in repression, the basal and induced levels were significantly increased. In contrast to a previous report, no evidence was found for regulation by the VDE endonuclease. The strong repression at the transport level by glutathione seen in strains overexpressing HGT1 was due to a glutathione-dependent toxicity in these cells. 相似文献
133.
Romeo S Bovée JV Grogan SP Taminiau AH Eilers PH Cleton-Jansen AM Mainil-Varlet P Hogendoorn PC 《The Journal of pathology》2005,206(2):135-142
Chondromyxoid fibroma is a rare benign cartilaginous bone tumour characterized by morphological features that resemble different steps of chondrogenesis in terms of both cellular morphology, ranging from spindled to rounded cells, and the extracellular matrix formed, which ranges from fibrous to cartilaginous. The presence in chondromyxoid fibroma of signalling molecules that regulate the spatial expression of proteins involved in normal cartilage proliferation and differentiation was investigated in samples from 20 patients and compared with articular chondrocytes from 11 normal donors cultivated in 3D pellet culture. Sections were stained with safranin-O and H&E, and immunohistochemistry was performed for p16, cyclin D1, FGFR3, BCL2, p21, PTHLH, PTHR1 and N-cadherin. Expression patterns were analysed using hierarchical clustering. In chondromyxoid fibroma, specific morphological features correlated with a distinct pattern of expression. Comparison with normal chondrocytes in pellet culture showed a striking morphological resemblance, but with an unmistakably different pattern of expression. N-cadherin, PTHLH, and PTHR1 were expressed to a significantly higher level (p < 0.01) in articular chondrocyte pellets but, conversely, there was significantly lower expression of cyclin D1, p16 and BCL2 (p < 0.05) in these cells. Morphological similarities reflect common steps in cartilage differentiation, albeit driven by different molecular mechanisms. The proteins we have found to be differentially expressed seem crucial for neoplastic chondrogenesis. 相似文献
134.
Distribution of nocardia species in clinical samples and their routine rapid identification in the laboratory 总被引:1,自引:0,他引:1 下载免费PDF全文
Wauters G Avesani V Charlier J Janssens M Vaneechoutte M Delmée M 《Journal of clinical microbiology》2005,43(6):2624-2628
Eighty-six Nocardia strains isolated from clinical samples in Belgium were identified by 16S rRNA gene sequencing. Eighty-three (96%) strains belonged to only six Nocardia species: N. farcinica (38 [44%]), N. nova (19 [22%]), N. cyriacigeorgica (13 [15%]), N. brasiliensis (6 [6.9%]), N. abscessus (5 [5.8%]), and N. paucivorans (2 [2.3%]). A gallery of nine conventional and enzymatic tests was developed for the rapid identification of the most common species isolated during this survey. Pyrrolidonyl aminopeptidase, γ-glutamyl aminopeptidase, α-mannosidase, and α-glucosidase were found to be highly discriminating and could be used to develop an identification scheme. 相似文献
135.
H. L. Journée A. C. van Bruggen J. J. van der Meer A. B. de Jonge J. J. A. Mooij 《Medical & biological engineering & computing》1995,33(2):140-144
The recording of sounds over the oribt of the eye has been found to be useful in the detection of intracranial aneurysms.
A hydrophone for auscultation over the eye has been developed and is tested under controlled conditions. The tests consist
of measurement over the eyes in three healthy volunteers at rest, during voluntary breathing, during eyeball movements and
during sustained orbicular muscular contractions. Furthermore, measurements are performed at the side of the nose. Major features
of the hydrophonic transducer are high sensitivity to physiological sounds and a high degree of insensitivity to environmental
sounds propagated through the air. It can be concluded that the hydrophone may be useful for the early detection of intracranial
aneurysms and also for apnoea detection. 相似文献
136.
137.
Dezfulian H Batisson I Fairbrother JM Lau PC Nassar A Szatmari G Harel J 《Journal of clinical microbiology》2003,41(4):1375-1385
The virulence genotype profile and presence of a pathogenicity island(s) (PAI) were studied in 18 strains of F165-positive Escherichia coli originally isolated from diseased calves or piglets. On the basis of their adhesion phenotypes and genotypes, these extraintestinal pathogenic strains were classified into three groups. The F165 fimbrial complex consists of at least two serologically and genetically distinct fimbriae: F165(1) and F165(2). F165(1) is encoded by the foo operon (pap-like), and F165(2) is encoded by fot (sfa related). Strains in group 1 were foo and fot positive, strains in group 2 were foo and afa positive, and strains in group 3 were foo positive only. The strains were tested for the presence of virulence genes found mainly in extraintestinal pathogenic E. coli (ExPEC) strains. Although all the strains were positive for the papA variant encoding F11 fimbriae incD, traT, and papC, the prevalence of virulence genes commonly found in PAIs associated with ExPEC strains was highly variable, with strains of group 2 harboring most of the virulence genes tested. papG allele III was detected in all strains in group 1 and in one strain in group 3. All other strains were negative for the known alleles encoding PapG adhesins. The association of virulence genes with tRNA genes was characterized in these strains by using pulsed-field gel electrophoresis and DNA hybridization. The insertion site of the foo operon was found at the pheU tRNA locus in 16 of the 18 strains and at the selC tRNA locus in the other 2 strains. Furthermore, 8 of the 18 strains harbored a high-pathogenicity island which was inserted in either the asnT or the asnV/U tRNA locus. These results suggest the presence of one or more PAIs in septicemic strains from animals and the association of the foo operon with at least one of these islands. F165-positive strains share certain virulence traits with ExPEC, and most of them are pathogenic in piglets, as tested in experimental infections. 相似文献
138.
Florien van Heest Ilora Finlay Renée Otter Betty Meyboom-de Jong 《The British journal of general practice》2007,57(539):494-496
This study describes a novel type of support for GPs caring for patients dying at home: the establishment and evaluation of a telephone advisory service for GPs, run by GPs with a special interest in palliative care (GPwSIs) in the Netherlands 2000-2003. A growing number of GPs called for advice, 10% during out of hours. Prognosis of the patients was generally short (days to weeks in 70% of cases). Most advice sought by GPs concerned symptom management and on evaluation, 85% of the GPs followed the advice. 相似文献
139.
Modulation of Whole-Cell Currents in Plasmodium Falciparum-Infected Human Red Blood Cells by Holding Potential and Serum 总被引:3,自引:0,他引:3
Henry M. Staines Trevor Powell J. Clive Ellory Stéphane Egée Franck Lapaix Gaëtan Decherf Serge L. Y. Thomas Christophe Duranton† Florian Lang† Stephan M. Huber† 《The Journal of physiology》2003,552(1):177-183
Recent electrophysiological studies have identified novel ion channel activity in the host plasma membrane of Plasmodium falciparum -infected human red blood cells (RBCs). However, conflicting data have been published with regard to the characteristics of induced channel activity measured in the whole-cell configuration of the patch-clamp technique. In an effort to establish the reasons for these discrepancies, we demonstrate here two factors that have been found to modulate whole-cell recordings in malaria-infected RBCs. Firstly, negative holding potentials reduced inward currents (i.e. at negative potentials), although this result was highly complex. Secondly, the addition of human serum increased outward currents (i.e. at positive potentials) by approximately 4-fold and inward currents by approximately 2-fold. These two effects may help to resolve the conflicting data in the literature, although further investigation is required to understand the underlying mechanisms and their physiological relevance in detail. 相似文献
140.
Function and structure of pressurized and perfused porcine carotid arteries: effects of in vitro balloon angioplasty 下载免费PDF全文
Perrée J van Leeuwen TG Kerindongo R Spaan JA VanBavel E 《The American journal of pathology》2003,163(5):1743-1750
In this report we describe the application of an in vitro pressure-perfusion system for study of functional/structural changes after in vitro balloon dilation injury. Pig carotid arteries were perfused at P = 100 mm Hg and Q = 100 ml/min, balloon angioplastied (BA), and cultured under these hemodynamic conditions for 4 or 8 days (n = 5 BA and 6 controls for each time point). To assess endothelial function, outer diameter changes in response to bradykinin (BK) were measured daily. Remodeling was determined from the shift in pressure-passive diameter relation, as obtained after papaverine addition. Arterial samples were processed for histology. Control arteries showed spontaneous tone, BK-induced relaxation, and inward remodeling that was more pronounced at day 8 (ratio end-to-start passive diameter at P = 100 mm Hg, 0.69 +/- 0.04; P < 0.001) than at day 4 (0.85 +/- 0.03, P = 0.03). Intimal hyperplasia was detectable in these control vessels at day 8 with accumulation of alpha-smooth muscle actin-positive cells around the lumen. Angioplasty caused ruptures and dissections and abolished tone that returned after 5 days of perfusion along with BK-dependent relaxation. No significant inward remodeling or intimal hyperplasia was observed at day 8 after angioplasty. Thus, BA inhibits remodeling, which occurs after in vitro perfusion of conductance arteries. 相似文献