Inhibitor-immunology-study. Evaluation of inhibitor development in haemophilia B.

UNLABELLED: The development of inhibitors in haemophilia B is one of the most important complications of replacement therapy, affecting mortality and morbidity. Inhibitor development is based on complex immunological factors, and to date, only little is known about its underlying mechanisms. Here, we present first results of the haemophilia B group of our Inhibitor-Immunology study. PATIENTS, METHODS: So far we have analysed 15 patients with haemophilia B. Four of them developed a high titre inhibitor; the remaining 11 had no inhibitor. We evaluated 9 SNPs in 8 genes (CD40, CTLA-4 , IL-1ß, IL-10, TLR2 , TLR4, TLR9, TNF-α). We compared the distribution of these alleles between inhibitor and non-inhibitor haemophilia B patients and between haemophilia B patients and a normal male control population. HLA typing was performed in all patients. Results, discussion: There appears to be a trend towards a skewed distribution of TLR 9, IL-10 and CTLA4 alleles in haemophilia B patients. Due to the limited number these differences are, however, not statistically significant. The t-test of all patients with inhibitor versus without inhibitor was significant for HLA-A*03 and DPB1*0401 and borderline for DRB1*0201.

Resonant Coherent Anti-Stokes Raman Scattering Applied to Vapor Phase InI.

The metal halide indium iodide (InI) is used as an important additive to mercury discharge lamps. The aim of this paper is to prepare resonant coherent anti-Stokes Raman scattering (RECARS) experiments for measuring concentration and temperature profiles of InI in commercially available metal halide lamps. The spectral positions of possible RECARS lines of InI (double and triple resonances) are calculated up to rotational quantum number J = 280 and vibrational quantum number v = 10. There is evidence for triple resonances leading to strong RECARS signals at J = 174 and J = 231. Dipole transition moments are calculated, which are important input data for the determination of the RECARS spectra. A degenerate-folded BOXCARS setup with a frequency-tripled Nd:YAG laser at 355 nm pumping two dye-laser systems oscillating near 411 nm is utilized to detect RECARS signals of the rovibronic transitions between X:(1)Sigma(+) and A:(3)Pi(0)(0(+)) states of InI. The laser output is attenuated to prevent saturation of the spectra. The tunable dye-laser systems have good beam-pointing stability and a small spectral width (<0.07 cm(-1)). Measured RECARS spectra from a pure InI vapor quartz cell at p = 120 Pa and T = 880 K are compared with theoretical data and good agreement is obtained with respect to the spectral position and RECARS intensity. The scatter signals are achieved with laser-pulse energies of less than 1 µJ. A collision-constant Gamma = 0.0025 cm(-1) describes the line broadening best. The experiments are also performed at a partial InI pressure of 1.12 kPa, a partial Hg pressure of 112 kPa, and a temperature of T = 1073 K and could be interpreted with a broadening constant Gamma = 0.23 cm(-1). Temperature measurements were performed between 900 and 1200 K with an accuracy of 7%. Copyright 2000 Academic Press.

Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.

In order to obtain a survey of the mutations being prevalent in Northern Germany and to enable molecular genetic testing for families with clinically diagnosed familial hypercholesterolemia (FH), we screened 46 unrelated German individuals with elevated LDL levels for mutations in the 18 exons and their flanking intron sequences including the promotor region of the LDL receptor (LDLR) gene. In addition, we tested all patients for the presence of mutations in the gene coding for apolipoprotein B-100 (apoB-100). We detected 15 mutations affecting the LDLR gene, 8 of which, designated A29S, 195insAT, 313+1insG, 553insG, 680insGGACAAATCTG, D200N, E267K and L411V have not yet been reported. One patient is heterozygous for the double mutant N543H and 2393del9Bp. Two patients carried the mutation R3500Q (Arg-->Glu) within the apoB-100 gene.

The potential benefits of genetic testing in breast and ovarian cancer.

Full text is available as a scanned copy of the original print version.