Dokument-ID Dokumenttyp Verfasser/Autoren Herausgeber Haupttitel Abstract Auflage Verlagsort Verlag Erscheinungsjahr Seitenzahl Schriftenreihe Titel Schriftenreihe Bandzahl ISBN Quelle der Hochschulschrift Konferenzname Quelle:Titel Quelle:Jahrgang Quelle:Heftnummer Quelle:Erste Seite Quelle:Letzte Seite URN DOI Abteilungen OPUS4-19661 Wissenschaftlicher Artikel Vaiopoulos, Aristeidis G.; Kanakis, Meletios A.; Kapsimali, Violetta; Vaiopoulos, Georgios; Kaklamanis, Phedon G.; Zouboulis, Christos C. Juvenile Adamantiades-Behçet disease Adamantiades-Behçet disease (ABD) is a chronic, multisystemic, recurrent, inflammatory vascular disorder of unknown etiology. Patients with symptoms initially appearing at the age of 16 or less are considered as cases of juvenile-onset ABD (JABD). JABD is relatively rare compared to ABD of adults, and only case reports and case studies have been published regarding this subtype of the disease. Epidemiology, clinical features, diagnosis and treatment of JABD are discussed in this review. 2016 7 Dermatology 232 2 129 136 urn:nbn:de:bvb:20-opus-196616 10.1159/000442667 Pathologisches Institut OPUS4-19670 Wissenschaftlicher Artikel Schmid, Michael; Steinlein, Claus; Lomb, Christian; Sperling, Karl; Neitzel, Heidemarie 5-Methylcytosine-Rich Heterochromatin in the Indian Muntjac Two 5-methylcytosine (5-MeC)-rich heterochromatic regions were demonstrated in metaphase chromosomes of the Indian muntjac by indirect immunofluorescence using a monoclonal anti-5-MeC antibody. The metaphases were obtained from diploid and triploid cell lines. A major region is located in the 'neck' of the 3;X fusion chromosome and can be detected after denaturation of the chromosomal DNA with UV-light irradiation for 1 h. It is located exactly at the border of the X chromosome and the translocated autosome 3. A minor region is found in the centromeric region of the free autosome 3 after denaturing the chromosomal DNA for 3 h or longer. The structure and possible function of the major hypermethylated region as barrier against spreading of the X-inactivation process into the autosome 3 is discussed. 2016 240-246 Cytogenetic and Genome Research 147 4 urn:nbn:de:bvb:20-opus-196701 10.1159/000444431 Institut für Humangenetik OPUS4-19901 Wissenschaftlicher Artikel Schmid, Michael; Steinlein, Claus; Winking, Heinz Multicolor Spectral Analyses of Mitotic and Meiotic Mouse Chromosomes Involved in Multiple Robertsonian Translocations. I. The CD/Cremona Hybrid Strain Multicolor spectral analysis (spectral karyotyping) was applied to mitotic and male diakinetic chromosomes of hybrid mice carrying a unique system of 18 autosomal Robertsonian translocation chromosomes with alternating arm homologies. Only the autosomes 19 and the XY sex chromosomes are excluded from these Robertsonian translocations. The translocations, previously identified by conventional banding analyses, could be verified by spectral karyotyping. Besides the Robertsonian translocations, no other interchromosomal rearrangements were detected. In diakineses of male meiosis, the 18 metacentric Robertsonian translocation chromosomes form a very large meiotic 'superring'. The predictable, specific order of the chromosomes along this 'superring' was completely confirmed by multicolor spectral analysis. In the majority of diakineses analyzed, the free autosomal bivalent 19 and the XY sex bivalent form a conspicuous complex which tightly associates with the 12;14 Robertsonian translocation chromosome in the 'superring'. 2016 253-259 Cytogenetic and Genome Research 147 4 urn:nbn:de:bvb:20-opus-199013 10.1159/000444597 Institut für Humangenetik OPUS4-19671 Wissenschaftlicher Artikel Schmid, Michael; Steinlein, Claus; Yano, Cassia F.; Cioffi, Marcelo B. Hypermethylated Chromosome Regions in Nine Fish Species with Heteromorphic Sex Chromosomes Sites and amounts of 5-methylcytosine (5-MeC)-rich chromosome regions were detected in the karyotypes of 9 Brazilian species of Characiformes fishes by indirect immunofluorescence using a monoclonal anti-5-MeC antibody. These species, belonging to the genera Leporinus, Triportheus and Hoplias, are characterized by highly differentiated and heteromorphic ZW and XY sex chromosomes. In all species, the hypermethylated regions are confined to constitutive heterochromatin. The number and chromosome locations of hypermethylated heterochromatic regions in the karyotypes are constant and species-specific. Generally, heterochromatic regions that are darkly stained by the C-banding technique are distinctly hypermethylated, but several of the brightly fluorescing hypermethylated regions merely exhibit moderate or faint C-banding. The ZW and XY sex chromosomes of all 9 analyzed species also show species-specific heterochromatin hypermethylation patterns. The analysis of 5-MeC-rich chromosome regions contributes valuable data for comparative cytogenetics of closely related species and highlights the dynamic process of differentiation operating in the repetitive DNA fraction of sex chromosomes. 2016 169-178 Cytogenetic and Genome Research 147 2-3 urn:nbn:de:bvb:20-opus-196710 10.1159/000444067 Institut für Humangenetik OPUS4-19902 Wissenschaftlicher Artikel Schmid, Michael; Steinlein, Claus Chromosome Banding in Amphibia. XXXIII. Demonstration of 5-Methylcytosine-Rich Heterochromatin in Anura An experimental approach using monoclonal anti-5-methylcytosine (5-MeC) antibodies and indirect immunofluorescence was elaborated for detecting 5-MeC-rich chromosome regions in anuran chromosomes. This technique was applied to mitotic metaphases of 6 neotropical frog species belonging to 6 genera and 4 families. The hypermethylation patterns were compared with a variety of banding patterns obtained by conventional banding techniques. The hypermethylated DNA sequences are species-specific and located exclusively in constitutive heterochromatin. They are found in centromeric, pericentromeric, telomeric, and interstitial positions of the chromosomes and adjacent to nucleolus organizer regions. 5-MeC-rich DNA sequences can be embedded both in AT- and GC-rich repetitive DNA. The experimental parameters that have major influence on the reproducibility and quality of the anti-5-MeC antibody labeling are discussed. 2016 35-43 Cytogenetic and Genome Research 148 1 urn:nbn:de:bvb:20-opus-199022 10.1159/000446141 Institut für Humangenetik OPUS4-19669 Wissenschaftlicher Artikel Schmid, Michael; Steinlein, Claus Chromosome Banding in Amphibia. XXXIV. Intrachromosomal Telomeric DNA Sequences in Anura The mitotic chromosomes of 4 anuran species were examined by various classical banding techniques and by fluorescence in situ hybridization using a (TTAGGG)\(_n\) repeat. Large intrachromosomal telomeric sequences (ITSs) were demonstrated in differing numbers and chromosome locations. A detailed comparison of the present results with numerous published and unpublished data allowed a consistent classification of the various categories of large ITSs present in the genomes of anurans and other vertebrates. The classification takes into consideration the total numbers of large ITSs in the karyotypes, their chromosomal locations and their specific distribution patterns. A new category of large ITSs was recognized to exist in anuran species. It consists of large clusters of ITSs located in euchromatic chromosome segments, which is in clear contrast to the large ITSs in heterochromatic chromosome regions known in vertebrates. The origin of the different categories of large ITSs in heterochromatic and euchromatic chromosome regions, their mode of distribution in the karyotypes and evolutionary fixation in the genomes, as well as their cytological detection are discussed. 2016 211-226 Cytogenetic and Genome Research 148 2-3 urn:nbn:de:bvb:20-opus-196693 10.1159/000446298 Institut für Humangenetik OPUS4-19657 Wissenschaftlicher Artikel Almanzar, Giovanni; Klein, Matthias; Schmalzing, Marc; Hilligardt, Deborah; El Hajj, Nady; Kneitz, Hermann; Wild, Vanessa; Rosenwald, Andreas; Benoit, Sandrine; Hamm, Henning; Tony, Hans-Peter; Haaf, Thomas; Goebeler, Matthias; Prelog, Martina Disease Manifestation and Inflammatory Activity as Modulators of Th17/Treg Balance and RORC/FoxP3 Methylation in Systemic Sclerosis Background: There is much evidence that T cells are strongly involved in the pathogenesis of localized and systemic forms of scleroderma (SSc). A dysbalance between FoxP3+ regulatory CD4+ T cells (Tregs) and inflammatory T-helper (Th) 17 cells has been suggested. Methods: The study aimed (1) to investigate the phenotypical and functional characteristics of Th17 and Tregs in SSc patients depending on disease manifestation (limited vs. diffuse cutaneous SSc, dcSSc) and activity, and (2) the transcriptional level and methylation status of Th17- and Treg-specific transcription factors. Results: There was a concurrent accumulation of circulating peripheral IL-17-producing CCR6+ Th cells and FoxP3+ Tregs in patients with dcSSc. At the transcriptional level, Th17- and Treg-associated transcription factors were elevated in SSc. A strong association with high circulating Th17 and Tregs was seen with early, active, and severe disease presentation. However, a diminished suppressive function on autologous lymphocytes was found in SSc-derived Tregs. Significant relative hypermethylation was seen at the gene level for RORC1 and RORC2 in SSc, particularly in patients with high inflammatory activity. Conclusions: Besides the high transcriptional activity of T cells, attributed to Treg or Th17 phenotype, in active SSc disease, Tregs may be insufficient to produce high amounts of IL-10 or to control proliferative activity of effector T cells in SSc. Our results suggest a high plasticity of Tregs strongly associated with the Th17 phenotype. Future directions may focus on enhancing Treg functions and stabilization of the Treg phenotype. 2016 141-154 International Archives of Allergy and Immunology 171 2 urn:nbn:de:bvb:20-opus-196577 10.1159/000450949 Kinderklinik und Poliklinik OPUS4-19912 Wissenschaftlicher Artikel Zahnert, Thomas; Löwenheim, Hubert; Beutner, Dirk; Hagen, Rudolf; Ernst, Arneborg; Pau, Hans-Wilhelm; Zehlicke, Thorsten; Kühne, Hilke; Friese, Natascha; Tropitzsch, Anke; Lüers, Jan-Christoffer; Mlynski, Robert; Todt, Ingo; Hüttenbrink, Karl-Bernd Multicenter Clinical Trial of Vibroplasty Couplers to Treat Mixed/Conductive Hearing Loss: First Results Objective: To evaluate the safety and effectiveness of round window (RW), oval window (OW), CliP and Bell couplers for use with an active middle ear implant. Methods: This is a multicenter, long-term, prospective trial with consecutive enrollment, involving 6 university hospitals in Germany. Bone conduction, air conduction, implant-aided warble-tone thresholds and Freiburger monosyllable word recognition scores were compared with unaided preimplantation results in 28 moderate-to-profound hearing-impaired patients after 12 months of follow-up. All patients had previously undergone failed reconstruction surgeries (up to 5 or more). In a subset of patients, additional speech tests at 12 months postoperatively were used to compare the aided with the unaided condition after implantation with the processor switched off. An established quality-of-life questionnaire for hearing aids was used to determine patient satisfaction. Results: Postoperative bone conduction remained stable. Mean functional gain for all couplers was 37 dB HL (RW = 42 dB, OW = 35 dB, Bell = 38 dB, CliP = 27 dB). The mean postoperative Freiburger monosyllable score was 71% at 65 dB SPL. The postimplantation mean SRT50 (speech reception in quiet for 50% understanding of words in sentences) improved on average by 23 dB over unaided testing and signal-to-noise ratios also improved in all patients. The International Outcome Inventory for Hearing Aids (IOI-HA)quality-of-life questionnaire was scored very positively by all patients. Conclusion: A significant improvement was seen with all couplers, and patients were satisfied with the device at 12 months postoperatively. These results demonstrate that an active implant is an advantage in achieving good hearing benefit in patients with prior failed reconstruction surgery. 2016 212-222 Audiology and Neurotology 21 4 urn:nbn:de:bvb:20-opus-199129 10.1159/000444616 Klinik und Poliklinik für Hals-, Nasen- und Ohrenkrankheiten, plastische und ästhetische Operationen OPUS4-19679 Wissenschaftlicher Artikel Dengler, Julius; Maldaner, Nicolai; Gläsker, Sven; Endres, Matthias; Wagner, Martin; Malzahn, Uwe; Heuschmann, Peter U.; Vajkoczy, Peter Outcome of Surgical or Endovascular Treatment of Giant Intracranial Aneurysms, with Emphasis on Age, Aneurysm Location, and Unruptured Aneuryms - A Systematic Review and Meta-Analysis Background: Designing treatment strategies for unruptured giant intracranial aneurysms (GIA) is difficult as evidence of large clinical trials is lacking. We examined the outcome following surgical or endovascular GIA treatment focusing on patient age, GIA location and unruptured GIA. Methods: Medline and Embase were searched for studies reporting on GIA treatment outcome published after January 2000. We calculated the proportion of good outcome (PGO) for all included GIA and for unruptured GIA by meta-analysis using a random effects model. Results: We included 54 studies containing 64 study populations with 1,269 GIA at a median follow-up time (FU-T) of 26.4 months (95% CI 10.8-42.0). PGO was 80.9% (77.4-84.4) in the analysis of all GIA compared to 81.2% (75.3-86.1) in the separate analysis of unruptured GIA. For each year added to patient age, PGO decreased by 0.8%, both for all GIA and unruptured GIA. For all GIA, surgical treatment resulted in a PGO of 80.3% (95% CI 76.0-84.6) compared to 84.2% (78.5-89.8, p = 0.27) after endovascular treatment. In unruptured GIA, PGO was 79.7% (95% CI 71.5-87.8) after surgical treatment and 84.9% (79.1-90.7, p = 0.54) after endovascular treatment. PGO was lower in high quality studies and in studies presenting aggregate instead of individual patient data. In unruptured GIA, the OR for good treatment outcome was 5.2 (95% CI 2.0-13.0) at the internal carotid artery compared to 0.1 (0.1-0.3, p < 0.1) in the posterior circulation. Patient sex, FU-T and prevalence of ruptured GIA were not associated with PGO. Conclusions: We found that the chances of good outcome after surgical or endovascular GIA treatment mainly depend on patient age and aneurysm location rather than on the type of treatment conducted. Our analysis may inform future research on GIA. 2016 187-198 Cerebrovascular Diseases 41 3-4 urn:nbn:de:bvb:20-opus-196792 10.1159/000443485 Institut für Klinische Epidemiologie und Biometrie OPUS4-24245 Arbeitspapier Metzger, Florian; Rafetseder, Albert; Schröder, Svenja; Zwickl, Patrick The Prospects of Cloud Gaming: Do the Benefits Outweigh the Costs? In recent years, cloud gaming has become a popular research topic and has claimed many benefits in the commercial domain over conventional gaming. While, cloud gaming platforms have frequently failed in the past, they have received a new impetus over the last years that brought it to the edge of commercial breakthrough. The fragility of the cloud gaming market may be caused by the high investment costs, offered pricing models or competition from existing "à la carte" platforms. This paper aims at investigating the costs and benefits of both platform types through a twofold approach. We first take on the perspective of the customers, and investigate several cloud gaming platforms and their pricing models in comparison to the costs of other gaming platforms. Then, we explore engagement metrics in order to assess the enjoyment of playing the offered games. Lastly, coming from the perspective of the service providers, we aim to identify challenges in cost-effectively operating a large-scale cloud gaming service while maintaining high QoE values. Our analysis provides initial, yet still comprehensive reasons and models for the prospects of cloud gaming in a highly competitive market. 2016 10 urn:nbn:de:bvb:20-opus-242452 Institut für Informatik