A retrospective analysis of bilateral fractures over sixteen years: localisation and variation in treatment of second hip fractures

The aim of this study was the evaluation of contralateral hip fractures after a previous hip fracture. For this retrospective analysis patients were selected from the database of the LUMC, a teaching hospital in the south-west of the Netherlands. We analyzed all patients with a second fracture of a hip between 1992 and 2007. The exclusion criteria were high impact trauma and patients with diseases or medication known to have a negative effect on bone metabolism. A total of 1,604 hip fractures were identified. The possible predictive factors for the second fracture and descriptive statistics related to surgery (Hb and HT before and after the operation, total amount of intra- and postoperative blood loss, type of osteosynthesis, complications, time of death after the last fracture, time between arrival in the hospital and operation and hospital stay for both fractures) were recorded. A total of 32 second hip fractures were identified (2%) at a mean of 27.5 (SD 28.9) months after the initial hip fracture. The mean age at the first fracture was 77.2 years (SD 11.7), and 27 of 32 patients were female. Of these 32 patients (64 bilateral hip fractures), 32 fractures were intracapsular (1 femoral neck, 31 subcapital) and 32 were extracapsular fractures (6 subtrochanteric, 26 transtrochanteric). Although 24 of the 32 patients had identical first and second hip fractures, only eight out of 32 hips were treated with the same implants. There was a significant difference in Singh index between both hips at the time of the first fracture. There was also a significant difference in Singh index between the hip which was not fractured compared with its subsequent index when it was broken. All other studied patient and fracture characteristics were not significantly different. In this population the percentage of second hip fractures was relatively low compared to other studies. The choice of implants in this study shows that implants were chosen randomly. Because there is a significant difference in the Singh index during first and second hip fracture, osteoporosis medication might help reduce the incidence of second hip fractures

Structural variants exhibit widespread allelic heterogeneity and shape variation in complex traits

This work is licensed under a Creative Commons Attribution 4.0 International License.It has been hypothesized that individually-rare hidden structural variants (SVs) could account for a significant fraction of variation in complex traits. Here we identified more than 20,000 euchromatic SVs from 14 Drosophila melanogaster genome assemblies, of which ~40% are invisible to high specificity short-read genotyping approaches. SVs are common, with 31.5% of diploid individuals harboring a SV in genes larger than 5kb, and 24% harboring multiple SVs in genes larger than 10kb. SV minor allele frequencies are rarer than amino acid polymorphisms, suggesting that SVs are more deleterious. We show that a number of functionally important genes harbor previously hidden structural variants likely to affect complex phenotypes. Furthermore, SVs are overrepresented in candidate genes associated with quantitative trait loci mapped using the Drosophila Synthetic Population Resource. We conclude that SVs are ubiquitous, frequently constitute a heterogeneous allelic series, and can act as rare alleles of large effect

Visualization of the intracavitary blood flow in systemic ventricles of Fontan patients by contrast echocardiography using particle image velocimetry

<p>Abstract</p> <p>Background</p> <p>Flow patterns in univentricular hearts may have clinical value. Therefore, it is our objective to asses and characterize vortex flow patterns with Fontan circulation in comparison with healthy controls.</p> <p>Methods</p> <p>Twenty-three patients (8 Fontan and 15 normal patients) underwent echocardiography with intravenous contrast agent (Sonovue^®) administration. Dedicated software was used to perform particle image velocimetry (PIV) and to visualize intracavitary flow in the systemic ventricles of the patients. Vortex parameters including vortex depth, length, width, and sphericity index were measured. Vortex pulsatility parameters including relative strength, vortex relative strength, and vortex pulsation correlation were also measured.</p> <p>Results</p> <p>The data from this study show that it is feasible to perform particle velocimetry in Fontan patients. Vortex length (VL) was significantly lower (0.51 ± 0.09 vs 0.65 ± 0.12, <it>P </it>= 0.010) and vortex width (VW) (0.32 ± 0.06 vs 0.27 ± 0.04, <it>p </it>= 0.014), vortex pulsation correlation (VPC) (0.26 ± 0.25 vs -0.22 ± 0.87, <it>p </it>= 0.05) were significantly higher in Fontan patients. Sphericity index (SI) (1.66 ± 0.48 vs 2.42 ± 0.62, <it>p </it>= 0.005), relative strength (RS) (0.77 ± 0.33 vs 1.90 ± 0.47, <it>p </it>= 0.0001), vortex relative strength (VRS) (0.18 ± 0.13 vs 0.43 ± 0.14, <it>p </it>= 0.0001) were significantly lower in the Fontan patients group.</p> <p>Conclusions</p> <p>PIV using contrast echocardiography is feasible in Fontan patients. Fontan patients had aberrant flow patterns as compared to normal hearts in terms of position, shape and sphericity of the main vortices. The vortex from the Fontan group was consistently shorter, wider and rounder than in controls. Whether vortex characteristics are related with clinical outcome is subject to further investigation.</p

Genetic or pharmaceutical blockade of phosphoinositide 3-kinase p110δ prevents chronic rejection of heart allografts.

Chronic rejection is the major cause of long-term heart allograft failure, characterized by tissue infiltration by recipient T cells with indirect allospecificity. Phosphoinositol-3-kinase p110δ is a key mediator of T cell receptor signaling, regulating both T cell activation and migration of primed T cells to non-lymphoid antigen-rich tissue. We investigated the effect of genetic or pharmacologic inactivation of PI3K p110δ on the development of chronic allograft rejection in a murine model in which HY-mismatched male hearts were transplanted into female recipients. We show that suppression of p110δ activity significantly attenuates the development of chronic rejection of heart grafts in the absence of any additional immunosuppressive treatment by impairing the localization of antigen-specific T cells to the grafts, while not inducing specific T cell tolerance. p110δ pharmacologic inactivation is effective when initiated after transplantation. Targeting p110δ activity might be a viable strategy for the treatment of heart chronic rejection in humans

Homoplastic microinversions and the avian tree of life

Background: Microinversions are cytologically undetectable inversions of DNA sequences that accumulate slowly in genomes. Like many other rare genomic changes (RGCs), microinversions are thought to be virtually homoplasyfree evolutionary characters, suggesting that they may be very useful for difficult phylogenetic problems such as the avian tree of life. However, few detailed surveys of these genomic rearrangements have been conducted, making it difficult to assess this hypothesis or understand the impact of microinversions upon genome evolution. Results: We surveyed non-coding sequence data from a recent avian phylogenetic study and found substantially more microinversions than expected based upon prior information about vertebrate inversion rates, although this is likely due to underestimation of these rates in previous studies. Most microinversions were lineage-specific or united well-accepted groups. However, some homoplastic microinversions were evident among the informative characters. Hemiplasy, which reflects differences between gene trees and the species tree, did not explain the observed homoplasy. Two specific loci were microinversion hotspots, with high numbers of inversions that included both the homoplastic as well as some overlapping microinversions. Neither stem-loop structures nor detectable sequence motifs were associated with microinversions in the hotspots. Conclusions: Microinversions can provide valuable phylogenetic information, although power analysis indicate

Diversity and Distribution of Braconidae, a Family of Parasitoid Wasps in the Central European Peatbogs of South Bohemia, Czech Republic

An ecological overview of seven years investigation of Braconidae, a family of parasitoid wasps (Hymenoptera: Ichneumonoidea) and a tyrpho-classification of parasitoids in peatbog areas of South Bohemia, Czech Republic are given. A total of 350 species were recorded in investigated sites, but only five tyrphobionts (1.4%) are proposed: Microchelonus basalis, Microchelonus koponeni, Coloneura ate, Coloneura danica and Myiocephalus niger. All of these species have a boreal-alpine distribution that, in Central Europe, is associated only with peatbogs. Tyrphophilous behaviour is seen in at least four (1.1%) species: Microchelonus pedator, Microchelonus subpedator, Microchelonus karadagi and Microchelonus gravenhorstii; however, a number of other braconids prefer peatbogs because they were more frequently encountered within, rather than outside, the bog habitat. The rest of the braconids (342 species, 97.5%) are tyrphoneutrals, many of them being eurytopic components of various habitats throughout their current ranges. Lists of tyrphobiontic braconids and a brief commentary on species composition, distributional picture of actual ranges, and parasitoid association to bog landscape are provided. Being true refugial habitats for populations in an ever-changing world, peatbogs play a significant role in harboring insect communities

Mechanism of cellular rejection in transplantation

The explosion of new discoveries in the field of immunology has provided new insights into mechanisms that promote an immune response directed against a transplanted organ. Central to the allograft response are T lymphocytes. This review summarizes the current literature on allorecognition, costimulation, memory T cells, T cell migration, and their role in both acute and chronic graft destruction. An in depth understanding of the cellular mechanisms that result in both acute and chronic allograft rejection will provide new strategies and targeted therapeutics capable of inducing long-lasting, allograft-specific tolerance

Accurate detection of complex structural variations using single-molecule sequencing

Structural variations are the greatest source of genetic variation, but they remain poorly understood because of technological limitations. Single-molecule long-read sequencing has the potential to dramatically advance the field, although high error rates are a challenge with existing methods. Addressing this need, we introduce open-source methods for long-read alignment (NGMLR; https://github.com/philres/ngmlr ) and structural variant identification (Sniffles; https://github.com/fritzsedlazeck/Sniffles ) that provide unprecedented sensitivity and precision for variant detection, even in repeat-rich regions and for complex nested events that can have substantial effects on human health. In several long-read datasets, including healthy and cancerous human genomes, we discovered thousands of novel variants and categorized systematic errors in short-read approaches. NGMLR and Sniffles can automatically filter false events and operate on low-coverage data, thereby reducing the high costs that have hindered the application of long reads in clinical and research settings