The BIOKLIM project: biodiversity research between climate change and wilding in a temperate montane forest : the conceptual framework

To understand the rapid rate of change in global biodiversity, it is necessary to analyse the present condition of ecosystems and to elucidate relationships of species to their environment. The BIOKLIM Project (Biodiversity and Climate Change Project) is intended to close this gap in our knowledge of montane and high montane forests of Central European low mountain ranges, one of the most threatened mixed montane systems worldwide. The Bavarian Forest National Park is characterised by its altitude range of ca. 800 m and a strongly developed gradient of forest structure. Relicts of old growth forests (areas of former local nature reserves) and dead stands, mostly killed by bark beetles, are accompanied by widely varying levels of woody debris and light. The gradients comprise a wide range of abiotic and forest structure factors, making the study area well suited for a multidisciplinary investigation of biodiversity. Unconstrained ordination (CA) of six taxa (vascular plants, wood inhabiting fungi, birds, carabids, spiders and molluscs) indicate the altitudinal gradient to be the main driver for distribution patterns of species assemblages. Objectives, structure, study design and data sampling of the BIOKLIM Project are described in detail. We set up 293 sampling plots along four main straight transects following the altitudinal gradient. All abiotic and stand structure data regarded as relevant are available for each plot. Vascular plants, wood inhabiting fungi and birds were sampled or mapped on all 293 plots. For the other 22 investigated taxa we used subsamples pre-stratified according to the sampling methods. The necessity of dealing with spatial autocorrelation, arising from sampling along linear transects, is described. Finally, study approach of our biodiversity project is compared with others involving altitudinal gradients. Worldwide, only a few multidisciplinary biodiversity studies have been previously conducted on long altitudinal gradients. However, in most cases sampling techniques were similar to ours, which allows comparison of results between continents. Keywords: Climate Change, Biodiversity, species-environment relationshipsUm die rasante Veränderung globaler Biodiversität zu verstehen, ist es erforderlich, den gegenwärtigen Zustand von Ökosystemen zu analysieren und die Zusammenhänge zwischen Arten und deren Umwelt aufzulösen. Das BIOKLIMProjekt (Biodiversität und Klima Projekt) hat zum Ziel, diese Wissenslücken für Wälder montaner und hochmontaner Mittelgebirge zu schließen. Der Nationalpark Bayerischer Wald ist neben dem Höhengradient (ca. 800 m) durch einen starken Strukturgradient geprägt. Dieser resultiert aus Restvorkommen sehr alter Bestände (ehem. Naturschutzgebiete) sowie dem Wirken des Borkenkäfers seit ca. zwei Jahrzehnten und einem dadurch verbundenen z. T. sehr hohen Totholzvorrat. Die Gradienten umfassen eine breite Spanne von abiotischen Faktoren und Bestandesstrukturen und machen den Nationalpark zu einem gut geeigneten Untersuchungsgebiet für interdisziplinäre Biodiversitätsforschung. Korrespondenzanalysen (CA) für 6 taxonomische Gruppen (Gefäßpflanzen, Holzpilze, Vögel, Laufkäfer, Spinnen und Mollusken) machen die starke Abhängigkeit der Artengruppen vom Höhengradienten deutlich. Es werden detailliert die Zielsetzungen, Projektaufbau, das Untersuchungsdesign sowie die Erfassungsmethoden des BIOKLIM-Projektes beschrieben. 293 Probepunkte wurden entlang von 4 Transekten, welche dem Höhengradienten folgen, eingerichtet. Zu jedem Probekreis stehen alle als relevant erachteten Daten zur Abiotik und Bestandesstruktur zur Verfügung. Gefäßpflanzen, Holzpilze und Vögel wurden auf allen 293 Probepunkten erfasst. Für die anderen 22 untersuchten Artengruppen wurde in Abhängigkeit von der Methode ein stratifiziertes Design gewählt. Lösungsansätze zum Umgang mit Autokorrelation, die durch die Anordnung von Probekreisen entlang von Linien (Transekte) bedingt ist, werden dargestellt. Schließlich wird das BIOKLIM-Projekt mit den wenigen weltweiten Biodiversitätsprojekten verglichen und diskutiert. In den meisten Fällen sind die Erhebungsmethoden ähnlich, sodass Vergleiche der Ergebnisse zwischen verschiedenen Kontinenten möglich werden. Schlüsselwörter: Klimawandel, Biodiversität, Arten-Umwelt-Beziehun

Zur Kenntnis der Azulene, V. Die Nucleophile Substitution des Azulens

Ebenso wie in 4- und 8-Stellung können Azulene auch an C-6 nucleophil substituiert werden. 4.8-Disubstituierte Azulene addieren alkalimetallorganische Verbindungen unter Bildung von 4.6.8-trisubstituierten Azuleniat-Salzen, die sich leicht in die entsprechenden Azulene überführen lassen. — Der Einfluß aromatischer Substituenten in 4- bzw. 8- und 6-Stellung des Azulens auf dessen Lichtabsorption wird diskutiert

Volume versus standard coils in the treatment of intracranial aneurysms

Background Volume coils were developed to improve occlusion rates of intracranial aneurysms. Previous studies have shown increased packing density and comparable occlusion rates, but subgroup analyses of aneurysm size have not been carried out. Objective To evaluate the safety and efficacy of the Penumbra Coil 400 (PC400) system in treating intracranial aneurysms compared with standard diameter coils. Methods A monocentric retrospective case review of 260 aneurysms in 233 patients was carried out. In 37 aneurysms the PC400 system was used, while 223 aneurysms were treated with conventional coils. Previously treated aneurysms and aneurysms treated with flow diverters were excluded. Aneurysm and procedure characteristics, packing density, postprocedural and follow-up occlusion grades as well as coil compaction were evaluated. Results Aneurysms treated with PC400 coils had higher volume (218.9 vs 47.1mm(3), p<0.001), wider necks (3.0 vs 2.5mm, p=0.005), and greater dome/neck ratio (2.0 vs 1.6, p=0.001) in comparison with aneurysms treated with conventional coils. Compared with controls, in the PC400 group we achieved higher packing densities (43.2% vs 34.4%, p<0.001;in aneurysms 7mm 42.2% vs 27.8%, p<0.001). On follow-up angiography we observed less coil compaction (23.8% vs 64.3%, p=0.003) and less aneurysm recurrence (14.3% vs 40.5%, p=0.046) in aneurysms 7mm when using the PC400 system. Conclusions Use of the PC400 system as opposed to conventional coils suggests that the PC400 system is safe and effective in treating intracranial aneurysms. Despite having been applied in a potentially more difficult-to-treat group, the use of PC400 was associated with less coil compaction and aneurysm recurrence in aneurysms 7mm

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1,395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; and 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared with information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known nonpathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification

Rare and low-frequency coding variants alter human adult height

Height is a highly heritable, classic polygenic trait with ~700 common associated variants identified so far through genome - wide association studies . Here , we report 83 height - associated coding variants with lower minor allele frequenc ies ( range of 0.1 - 4.8% ) and effects of up to 2 16 cm /allele ( e.g. in IHH , STC2 , AR and CRISPLD2 ) , >10 times the average effect of common variants . In functional follow - up studies, rare height - increasing alleles of STC2 (+1 - 2 cm/allele) compromise d proteolytic inhibition of PAPP - A and increased cleavage of IGFBP - 4 in vitro , resulting in higher bioavailability of insulin - like growth factors . The se 83 height - associated variants overlap genes mutated in monogenic growth disorders and highlight new biological candidates ( e.g. ADAMTS3, IL11RA, NOX4 ) and pathways ( e.g . proteoglycan/ glycosaminoglycan synthesis ) involved in growth . Our results demonstrate that sufficiently large sample sizes can uncover rare and low - frequency variants of moderate to large effect associated with polygenic human phenotypes , and that these variants implicate relevant genes and pathways

New genetic loci link adipose and insulin biology to body fat distribution.

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms