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Fibroblasts were isolated from skin biopsies from two patients with bipolar I disorder. One patient was a 26 year old female carrying a risk haplotype in the DGKH (diacylglycerol kinase eta) gene and the other was a non-carrier 27 year old male. Patient fibroblasts were reprogrammed into human induced pluripotent stem cells (hiPSCs) by using a Sendai virus vector. DGKH-risk haplotype and non-risk haplotype hiPSCs showed expression of pluripotency markers and were able to differentiate into cells of the three germ layers. These cell models are useful to investigate the role of risk gene variants in bipolar disorder.
Radiographic outcomes following lateral alveolar ridge augmentation using autogenous tooth roots
(2018)
Background: To assess and compare the radiographic outcomes following lateral alveolar ridge augmentation using autogenous tooth roots (TR) and autogenous bone (AB) blocks.
Methods: In a total of 30 patients, lateral ridge augmentation was conducted in parallel groups using either (1) healthy autogenous tooth roots (e.g., retained wisdom or impacted teeth) (n = 15) or (2) cortical autogenous bone blocks harvested from the retromolar area. Cone-beam computed tomographic (CBCT) scans taken at 26 weeks of submerged healing were analyzed for the basal graft integration (i.e., contact between the graft and the host bone in %) (BI26) and the cross-sectional grafted area (mm2) (SA26).
Results: Both groups revealed a comparable clinical width of the alveolar ridge at baseline (CWb). Mean BI26 and SA26 values amounted to 69.26 ± 26.01% (median 72.44) and 22.07 ± 12.98 mm2 (median 18.83) in the TR group and 79.67 ± 15.66% (median 78.85) and 12.42 ± 10.11 mm2 (median 11.36) in the AB group, respectively. Between-group differences in mean SA26 values were statistically significant (p = 0.031). Linear regression analysis failed to reveal any significant correlations between BI26 and CWb/SA26 values in either group.
Conclusions: TR grafts may be associated with improved SA26 values following lateral alveolar ridge augmentation.
Trial registration: DRKS00009586. Registered 10 February 2016.
Site-specific recombinases (SSR) are utilized as important genome engineering tools to precisely modify the genome of mice and other model organisms. Reporter mice that mark cells that at any given time had expressed the enzyme are frequently used for lineage tracing and to characterize newly generated mice expressing a recombinase from a chosen promoter. With increasing sophistication of genome alteration strategies, the demand for novel SSR systems that efficiently and specifically recombine their targets is rising and several SSR-systems are now used in combination to address complex biological questions in vivo. Generation of reporter mice for each one of these recombinases is cumbersome and increases the number of mouse lines that need to be maintained in animal facilities. Here we present a multi-reporter mouse line for loci-of-recombination (X) (MuX) that streamlines the characterization of mice expressing prominent recombinases. MuX mice constitutively express nuclear green fluorescent protein after recombination by either Cre, Flp, Dre or Vika recombinase, rationalizing the number of animal lines that need to be maintained. We also pioneer the use of the Vika/vox system in mice, illustrating its high efficacy and specificity, thereby facilitating future designs of sophisticated recombinase-based in vivo genome engineering strategies.
Detecting associations between genomic changes and phenotypic differences is fundamental to understanding how phenotypes evolved. By systematically screening for parallel amino acid substitutions, we detected known as well as novel cases (Strc, Tecta, and Cabp2) of parallelism between echolocating bats and toothed whales in proteins that could contribute to high-frequency hearing adaptations. Our screen also showed that echolocating mammals exhibit an unusually high number of parallel substitutions in fast-twitch muscle fiber proteins. Both echolocating bats and toothed whales produce an extremely rapid call rate when homing in on their prey, which was shown in bats to be powered by specialized superfast muscles. We show that these genes with parallel substitutions (Casq1, Atp2a1, Myh2, and Myl1) are expressed in the superfast sound-producing muscle of bats. Furthermore, we found that the calcium storage protein calsequestrin 1 of the little brown bat and the bottlenose dolphin functionally converged in its ability to form calcium-sequestering polymers at lower calcium concentrations, which may contribute to rapid calcium transients required for superfast muscle physiology. The proteins that our genomic screen detected could be involved in the convergent evolution of vocalization in echolocating mammals by potentially contributing to both rapid Ca2+ transients and increased shortening velocities in superfast muscles.
The 'Deutsche Referenzkorpus (DeReKo)' of the Mannheimer Institut für Deutsche Sprache currently contains over 28 billion words, and it is constantly being expanded. The sheer size of the corpus makes it impractical for researchers to analyze its entire content. On the other hand, the DeReKo offers the possibility of taking seriously the principle that every research project needs its own corpus - by acting as a 'reference corpus' that can be used in combination with special corpora. This paper addresses the question of whether a corpus should contain complete texts or only statistically relevant extracts; it also discusses the uses and necessity of 'small corpora'.
During the NEOBIOTA conference 2010 in Copenhagen (see http://www.neobiota.eu/conferences for an overview of all conferences), the attendants decided to transform the serial of the European Group on Biological Invasions Neobiota, edited by Ingo Kowarik and Uwe Starfinger, into an international, open access journal. In the following year, NeoBiota was relaunched under the same name, but with an upper case 'B', by Pensoft Publishers. In the editorial of the first issue, a large group of co-editors claimed for openness in covering a broad range of issues in invasion science, including the intersections with applied and social sciences, and referring to different groups of taxa and geographical regions (Kühn et al. 2011). What happened since then? We think that it is now time to shortly reflect how the new NeoBiota journal has developed in the first years of its infancy – based on some data on the published papers, the addressed topics and the geographical background of our contributing authors.
Lianas are prevalent in gaps and edges of forests where they compete intensely with trees, reducing growth and recruitment. Invasive lianas have the potential to be particularly harmful as the competitive advantage of the liana life history may be coupled with the more competitive qualities of invasiveness. However, in early stages of growth of lianas and native tree seedlings, facilitatory interactions or competitive interactions associated with soil nutrients may be more prevalent. We investigated interactions at the early stages of growth between native and invasive lianas with a common rainforest tree of temperate Australian rainforests under different light conditions. Invasive lianas, as a group, were not more competitive than native lianas in reducing growth of a native rainforest seedling. At this stage in the life cycle most lianas were as competitive as a conspecific seedling. However, one invasive liana, Anredera cordifolia, was particularly competitive and reduced biomass of tree seedlings. Light had little effect on growth of lianas nor on the impact of competition, however, specific leaf area differed between low and medium light conditions.
Moderate light did improve growth in the rainforest tree seedling. When lianas were grown with a rainforest tree, three liana species overyielded, while one species was unaffected by growing with the tree seedling. Overyielding suggests a strong positive interaction with the neighbouring plant, mediated through belowground processes. We discuss the potential for these interactions to be facilitative, parasitic or competitive. We therefore show that interactions early in the life of rainforest species can be complex mixtures of interactions which are likely to influence the ability of lianas to dominate rainforests.
Functional traits are useful for comparing the resource use of invasive and native species, with goals of identifying resource overlap to predict competitive interactions. The invasion of northeastern North America by the woodwasp Sirex noctilio has resulted in competition with the native congeneric Sirex nigricornis for suppressed and weakened pines. We compared sizes of adults, venom glands, fecundity, tree species use, voltinism and abundance of the invasive woodwasp S. noctilio with the native S. nigricornis in northeastern North American pines. Rearing adults from attacked pines showed that these species used the same tree species but S. noctilio were far more abundant, especially with increasing time since establishment. Adults of the invasive S. noctilio were larger than S. nigricornis, female S. noctilio had larger glands carrying phytotoxic venom in relation to body size, average-sized S. noctilio females carried more eggs, and S. noctilio developed faster than S. nigricornis. Sirex noctilio was the dominant woodwasp infesting suppressed pines in our study areas. We hypothesize that the future abundance of S. nigricornis could depend in part on the availability of wood for oviposition by this native that is not available or acceptable to the earlier-emerging S. noctilio.
Background: In Germany, patients suffering from life-limiting conditions are eligible for specialized outpatient palliative care (SOPC). Evaluation of the quality of this service lacks currently integration of patient-relevant outcomes. There is also no scientific consensus how to prove quality of care in the special context of SOPC adequately. Existing quality reports are primarily based on descriptive structural data which do not allow for estimation of process quality or result quality. The ELSAH study ("Evaluation of Specialized Outpatient Palliative Care in the German state of Hesse") aims to choose - or, if necessary, to adopt - to evaluate and to implement a suit of measures to assess, evaluate and monitor the quality of specialized, home-based palliative care.
Methods: All 22 SOPC teams providing their services in the state of Hesse, Germany, participate in the ELSAH study. The study is divided in two phases: a preparation phase and a main study phase. Based on the findings of the preparation phase we have chosen a preliminary set of instruments including the Integrated Palliative Outcome Scale, Views on Care, Zarit Burden Interview, Phase of Illness, Goal Attainment Scaling, Eastern Cooperative Oncology Group Performance Status, Consumer Quality Indices Palliative Care and Sense of Security in Care. During the main study phase, we will use a mixed-methods approach to evaluate the instruments’ psychometric properties (reliability, validity, feasibility and practicability), to identify barriers, facilitators and limitations of their routine use and to explore how their use affects the care within the SOPC setting.
Discussion: At the end of this study, an outcome- and patient-centered, validated measurement approach should be provided, adapted for standardized evaluations in SOPC across patient groups, palliative care services and regions nationwide. The standardized application of instruments should allow for making valid statements and comparisons of health care quality in SOPC based on process- and outcome-evaluation rather than relying on structural data only. Moreover, the instruments might directly influence the care of patients in palliative situations.
Trial registration: German Clinical Trials Register (DRKS-ID: DRKS00012421).
Background: Many gene variants modulate the individual perception of pain and possibly also its persistence. The limited selection of single functional variants is increasingly being replaced by analyses of the full coding and regulatory sequences of pain-relevant genes accessible by means of next generation sequencing (NGS).
Methods: An NGS panel was created for a set of 77 human genes selected following different lines of evidence supporting their role in persisting pain. To address the role of these candidate genes, we established a sequencing assay based on a custom AmpliSeqTM panel to assess the exomic sequences in 72 subjects of Caucasian ethnicity. To identify the systems biology of the genes, the biological functions associated with these genes were assessed by means of a computational over-representation analysis.
Results: Sequencing generated a median of 2.85 ⋅ 106 reads per run with a mean depth close to 200 reads, mean read length of 205 called bases and an average chip loading of 71%. A total of 3,185 genetic variants were called. A computational functional genomics analysis indicated that the proposed NGS gene panel covers biological processes identified previously as characterizing the functional genomics of persisting pain.
Conclusion: Results of the NGS assay suggested that the produced nucleotide sequences are comparable to those earned with the classical Sanger sequencing technique. The assay is applicable for small to large-scale experimental setups to target the accessing of information about any nucleotide within the addressed genes in a study cohort.