Clinical impact of somatic mosaicism in cases with small supernumerary marker chromosomes.

Somatic mosaicism is present in slightly more than 50% of small supernumerary marker chromosome (sSMC) carriers. Interestingly, non-acrocentric derived sSMC show mosaicism much more frequently than acrocentric ones. sSMC can be present in different mosaic rates, which may go below 5% of the studied cells. Also cryptic mosaicism can be present and mosaics may be differently expressed in different tissues of the body. Even though in the overwhelming majority of the cases somatic sSMC mosaicism has no direct clinical effect, there are also cases with altered clinical outcomes due to mosaicism. Also clinically important is the fact that a de novo sSMC, even present in mosaic, may be a hint of uniparental disomy (UPD). As it is under discussion to possibly replace standard karyotyping by methods like array-CGH, the impracticality of the latter to detect low-level sSMC mosaics and/or UPD has to be considered as well. Overall, sSMC mosaicism has to be studied carefully in each individual case, as it can be extremely informative and of importance, especially for prenatal genetic counseling.

Studies on the effect of electron beam radiation on the molecular structure of ultra-high molecular weight polyethylene under the influence of alpha-tocopherol with respect to its application in medical implants.

Ultra-high molecular weight polyethylene (UHMW-PE) is being used successfully for articulating surfaces in joint endoprostheses, especially for cups of total hip endoprostheses. Sintered specimens containing various amounts of alpha-tocopherol (vitamin E) as a biocompatible stabilizer, were irradiated in nitrogen atmosphere as well as in air with various dosages of electron beam radiation. Size exclusion chromatography (SEC) was used to analyze the soluble fractions of the UHMW-PE samples according to their molecular weight distribution prior to and after irradiation. In nitrogen atmosphere the radiation-induced crosslinking showed to be dependent on the added amount of alpha-tocopherol in the sintered specimens. With an increasing content of alpha-tocopherol, the stabilizer acted as a scavenger for free radicals. Thus, the crosslinking was more and more hindered. The same effect was observed on the samples irradiated in air, where, in addition to the crosslinking process, oxidative molecular degradation occurred. The highest extent of crosslinked material was yielded with unstabilized samples in nitrogen atmosphere.