0000000000468187
AUTHOR
J. Decker
Mutation screening for the prothrombin variant G20210A by melting point analysis with the Light Cycler system: atypical results, detection of the variant C20209T and possible clinical implications
In the differential diagnosis of thrombophilic disorders genotyping of prothrombin and factor V are nowadays performed as a routine analysis. In the following we describe the unusual results of the mutation screening using melting point analysis for two patients and the consecutive detection of the mutation C20209T by sequencing the corresponding gene fragments. The molecular result is discussed with special respect to the medical history, ethnic background and clinical findings of both patients.
Tracking Zebu Introgression in Mediterranean Cattle Breeds
A recent work investigating genetic origin, admixture and population history of primitive European cattle highlighted, by using genome-wide single nucleotide polymorphisms, zebu gene flow in the Balkan and Italian Podolic cattle populations. Haemoglobin protein polymorphism analysis in Italian breeds highlighted the presence of zebuine markers in both Italian Podolic and Alpine Grey cattle. Based on the above evidences, we here specifically look for genomic regions of zebuine ancestry in a different dataset of 50K genotypes from Mediterranean breeds including 29 Marismena (Spain); 30 Bazadaise and 30 Gasconne (France); 24 Alpine Grey, 97 Piemontese, 51 Chianina, 5 Marchigiana, 121 Romagnola…
Overview of the JET results
Since the installation of an ITER-like wall, the JET programme has focused on the consolidation of ITER design choices and the preparation for ITER operation, with a specific emphasis given to the bulk tungsten melt experiment, which has been crucial for the final decision on the material choice for the day-one tungsten divertor in ITER. Integrated scenarios have been progressed with the re-establishment of long-pulse, high-confinement H-modes by optimizing the magnetic configuration and the use of ICRH to avoid tungsten impurity accumulation. Stationary discharges with detached divertor conditions and small edge localized modes have been demonstrated by nitrogen seeding. The differences in…
Outcome of peripheral blood stem cell mobilization in advanced phases of CML is dependent on the type of chemotherapy applied
High-dose chemotherapy with autologous transplantation of in vivo purged PBSC is a novel investigational approach to treating chronic myelogenous leukemia (CML) patients not responsive to conventional therapy with interferon-alpha (IFN-alpha) and not eligible for allogeneic transplantation. PBSC mobilization using either '5+2/7+3'-type chemotherapy or 'mini-ICE/ ICE' chemotherapy was investigated in 43 patients with advanced phases of Philadelphia (Ph)-positive CML. Thirty patients were in late chronic phase (12 months post diagnosis) and 13 patients in accelerated phase (AP) or blast crisis (BC). Contamination with Ph-positive cells was evaluated in harvests from 37/43 patients. The outcom…