Chronische Ulzerationen einer Gesichtshälfte

Ohne Zusammenfassung     

Physiologische Reaktionen nach der Blutentnahme

Zusammenfassung Zur Prüfung einer von den Amerikanernvan Slyke undPhillips angegebenen Schnellmethode zur Messung des menschlichens Bluteiweißes wurden 50 Blutspender untersucht und ihre physiologischen Reaktionen nach der Blutentnahme geprüft.Es konnte bestätigt werden, daß beim Blutverlust der Verringerung der kreisenden Blutmenge die entscheidende Bedeutung zukommt. Der Organismus ist bestrebt, die Leere im Kreislauf durch Ausschüttung hämoglobinreicherer Erythrocyten aus den Depotorganen, wie Leber, Milz und subpapillärem Plexus aufzufüllen.Durch Einströmen von Gewebswasser in die Blutbahn kehrt das Kreislaufvolumen zur ursprünglichen Norm zurück, die Erythrocyten verschwinden wieder in ihre Lagerstätten.Zur Erhaltung des kolloidosmotischen Druckes, d. h. zur Retention der eiweißärmeren Gewebsflüssigkeit, werden hydrationsfähige Proteine aus der Leber vornehmlich mobilisiert.Die Wiederauffüllung des Kreislaufs ist in erster Linie eine physikalische Notwendigkeit, zu deren Stabilisierung Gewebs- wie Plasmaproteine beitragen. Das weitere Absinken der Erythrocyten über den 2. Tag hinaus wird mit ihrem hohen Eiweißmolekül erklärt, das in den ersten Tagen nach der Blutentnahme als Plasmaprotein Verwendung findet.Die Tatsache, daß die hier gefundenen Ergebnisse mit bisherigen übereinstimmen, verbunden mit dem Vorteil der sicheren und schnellen Handhabung, lassen die Methode vonvan Slyke undPhillips für die Klinik brauchbar erscheinen.Mit 4 Textabbildungen.     

Gastro-oesophageal reflux disease: Medical or surgical treatment? Report of an interactive workshop

Gastroesophageal reflux disease (GERD) is the most common disease of the upper gastrointestinal tract. With the introduction of proton pump inhibitors medical treatment of GERD has been significantly improved. However, the development of laparoscopic antireflux surgery resulted in an increasing interest of surgeons in this disease. An interactive meeting was organized in order to develop an agreement between gastoenterologists and surgeons regarding therapeutic decisions and this is the main topic of this paper.     

Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis

Human beta-defensin 2 (DEFB4, also known as DEFB2 or hBD-2) is a salt-sensitive antimicrobial protein that is expressed in lung epithelia. Previous work has shown that it is encoded in a cluster of beta-defensin genes at 8p23.1, which varies in copy number between 2 and 12 in different individuals. We determined the copy number of this locus in 355 patients with cystic fibrosis (CF), and tested for correlation between beta-defensin cluster genomic copy number and lung disease associated with CF. No significant association was found.     

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)

Thanatophoric dwarfism (TD) is a sporadic lethal skeletal dysplasia with micromelic shortening of the limbs, macrocephaly, platyspondyly and reduced thoracic cavity. In the most common subtype (TD1), femurs are curved, while in TD2, straight femurs are associated with cloverleaf skull. Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene were identified in both subtypes. While TD2 was accounted for by a single recurrent mutation in the tyrosine kinase 2 domain, TD1 resulted from either stop codon mutations or missense mutations in the extracellular domain of the gene. Here, we report the identification of FGFR3 mutations in 25/26 TD cases. Two novel missense mutations (Y373C and G370C) were detected in 8/26 and 1/26 TD1 cases respectively. Both mutations created cysteine residues in the juxta extramembrane domain of the receptor. Sixteen cases carried the previously reported R248C (9/26 cases), S249C (2/26 cases) or stop codon FGFR3 mutations (5/26 cases). Our results suggest that TD1 is a genetically homogeneous condition and give additional support to the view that newly created cysteine residues in the extracellular domain of the protein play a key role in the severity of the disease.      

Temperature-mediated heteroduplex analysis for detection of pncA mutations associated with pyrazinamide resistance and differentiation between Mycobacterium tuberculosis and Mycobacterium bovis by denaturing high- performance liquid chromatography

The goal of this study was to apply temperature-mediated heteroduplex analysis using denaturing high-performance liquid chromatography to identify pyrazinamide (PZA) resistance in Mycobacterium tuberculosis isolates and simultaneously differentiate between M. tuberculosis and Mycobacterium bovis. Features that contributed to an optimal assay included the use of two different reference probes for the pncA gene targets from wild-type M. tuberculosis and wild-type M. bovis, optimization of the column temperature, increasing the starting concentration of the elution buffer, and reducing the rate of elution buffer increase (slope). A total of 69 strains were studied, including 48 wild-type M. tuberculosis strains (13 were PZA-resistant strains) and 21 M. bovis strains (8 were BCG strains). In all isolates tested, wild-type M. tuberculosis generated a single-peak pattern when mixed with the M. tuberculosis probe and a double-peak pattern with the M. bovis probe. In contrast, all M. bovis isolates generated a double-peak pattern when mixed with the M. tuberculosis probe and a single-peak pattern with the M. bovis probe. PZA-resistant mutant M. tuberculosis isolates generated characteristic patterns that were easily distinguishable from both wild-type M. tuberculosis and M. bovis isolates. Chromatographic patterns generated by the two reference probes allowed the rapid detection of PZA resistance with the simultaneous ability to distinguish between M. tuberculosis and M. bovis. This approach may allow the detection of drug resistance-associated mutations, with potential application to clinical and epidemiological aspects of tuberculosis control.