0000000000175218
AUTHOR
H. Barth
Microdeletion 22q11 in complex cardiovascular malformations.
Besides DiGeorge, velocardiofacial and conotruncal anomaly face syndromes, some of the isolated congenital heart diseases have also been associated with a chromosomal deletion in 22q11. These disease entities, which had originally been considered to have a different genetic background, are now included in the CATCH-22 microdeletion complex. CATCH 22 is an acronym for cardiac defect, abnormal facies, thymic hypoplasia or aplasia and T-cell deficiency, cleft palate, hypoparathyroidism, and hypocalcemia. In the present study, we focused on the complex cardiovascular defects (CCVD) and screened 40 patients for a microdeletion of 22q11 by fluorescence in situ hybridization using the D22S75 DNA p…
The status of the Mainz neutrino mass experiment
Abstract The present status of the Mainz tritium β decay experiments is given. The very recent improvement of the Mainz setup and the first tritium data are presented.
A new upper limit of the electron anti neutrino rest mass from tritium β-decay
Abstract A new upper limit of the electron anti neutrino rest mass has been deduced from the tritium β-decay spectrum. A source of molecular tritium has been investigated with a new solenoid retarding spectrometer. The results are m ν ϵ 2 = −38.8 ± 34.1 stat ± 15.1 syst (eV) 2 /c 4 from which we conclude m ν ϵ ≤ 7.2 eV/c 2 with 95% c.l. Our β-endpoint corresponds to a 3H-3He atomic mass difference of Δm( 3 H- 3 He) = 18590.8 ± 3 eV/c 2 (1σ) .
Gas phase chromatography of halides of elements 104 and 105
On-line isothermal gas phase chromatography was used to study halides of261104 (T1/2=65 s) and262,263105 (T1/2=34 s and 27 s) produced an atom-at-a time via the reactions248Cm(18O, 5n) and249Bk(18O, 5n, 4n), respectively. Using HBr and HCl gas as halogenating agents, we were able to produce volatile bromides and chlorides of the above mentioned elements and study their behavior compared to their lighter homologs in Groups 4 or 5 of the periodic table. Element 104 formed more volatile bromide than its homolog Hf. In contrast, element 105 bromides were found to be less volatile than the bromides of the group 5 elements Nb and Ta. Both 104 and Hf chlorides were observed to be more volatile tha…
Improved limit on the electron-antineutrino rest mass from tritium ß-decay
Abstract The endpoint region of the β-spectrum of tritium was remeasured by an electrostatic spectrometer with magnetic guiding field. It enabled the search for a rest mass of the electron-antineutrino with improved precision. The result is m2v=−39±34stat±15syst(eV/c2)2, from which an upper limit of mv m( T )−m( 3 He )=18 591±3 eV /c 2 .
A solenoid retarding spectrometer with high resolution and transmission for keV electrons
Abstract We have built an electrostatic electron spectrometer combining both high resolution and large luminosity. The instrument consists essentially of two superconducting solenoids separated by a system of ring electrodes of 4 m in length. Source and detector are placed in the high-field regions of the superconducting solenoids, whereas the repellent analyzing electrostatic potential of the ring electrodes peaks at the minimum of the magnetic field in between these solenoids. The magnetic guiding field provides (i) the acceptance of the full foreward solid angle of 2π, (ii) the transformation of the transverse cyclotron motion into longitudinal motion parallel to the magnetic field. The …
Gastric histamine methyltransferase: Different methylation rates for enantiomers of side-chain methylated histamine analogues using a highly purified enzyme preparation
The inhibitor/activator and substrate properties of enantiomers of two methylated histamines (MH) were investigated using a histamine methyltransferase preparation which was purified 1207-fold from pig fundic mucosa by ultracentrifugation, ion-exchange chromatography on DEAE-cellulose and preparative electrofocusing. In 1-100 microM concentrations, S-alpha-MH and R-alpha-MH were acceptor substrates as good as histamine itself. When substrate concentrations were increased to 1 mM these substances were methylated to an even greater extent than histamine, since they did not exert substrate inhibition on HMT. Introduction of a further methyl-group into the N alpha-position reduced acceptor subs…