Pregnancy in a Woman with Homozygous Familial Hypercholesterolemia Not on Low-Density Lipoprotein Apheresis

Pregnancy in women with homozygous familial hypercholesterolemia (FH) has been rarely reported and might pose risks on the mother and her fetus. Although most reported cases remained on low-density lipoprotein (LDL) apheresis, there are no clear guidelines regarding the management of this entity. We report the first case of an uncomplicated pregnancy in a 24-year-old homozygous FH woman who was not maintained on LDL apheresis. FH expresses a wide variability in the phenotype, and management of homozygous FH cases who desire to become pregnant should be individualized based on preconceptional assessment with frequent antenatal follow-up. Decisions on management should be made after weighing the risks versus benefits of LDL apheresis

Use of 3D Laser Scanner for Rock Fractures Mapping

In the process of investigation, design and upgrading of rock slopes, the orientation and spacing of the structural discontinuities or joints in the rock mass are thoroughly mapped in the field so that any unstable blocks can be identified and stabilization measures designed. The orientation of the structural discontinuities is traditionally measured manually using geological compass placed directly at the exposed surfaces. Scaffolding is usually erected so that the geologist can physically access the exposed rock surface. A large number of measurements are usually required in order to obtain a statistical mean of the fracture orientation. With the ongoing advances of digital technology, 3D laser scanning technique can be used to replace direct physical access and large number of manual measurements can be completely eliminated. A prototype system is described in this paper that combines the non-contact measurement technologies of photogrammetric imaging and 3D laser scanning to create dimensionally accurate and pictorially correct 3 dimensional models and orthoimages of a rock fractures. By taking photographs from at least two different locations, lines of sight are mathematically intersected to produce the 3D coordinates of the key reference points in a rock face. Automatic 3D laser scanning unit is then used to produce the 3D coordinates of the entire rock surface. By overlapping the images rectified from photogrammetry technique with the coordinates from 3D laser scanning in an Autodesk 3D Studio Max environment, the coordinates of any objects in the photographs can be selected and their orientation such as dip angle and dip direction calculated automatically. A case study is presented to compare the orientations of fracture planes measured using geological compass and the orientations from the prototype system developed.published_or_final_versio

Genetic and epigenetic landscape of nasopharyngeal carcinoma

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GRADE Evidence to Decision (EtD) frameworks : A systematic and transparent approach to making well-informed healthcare choices. 1. Introduction

Funding: Work on this article has been partially funded by the European Commission FP7 Program (grant agreement 258583) as part of the DECIDE project. Sole responsibility lies with the authors; the European Commission is not responsible for any use that may be made of the information contained therein.Peer reviewedPublisher PD

A well-separated pairs decomposition algorithm for k-d trees implemented on multi-core architectures

Content from this work may be used under the terms of the Creative Commons Attribution 3.0 licence. Any further distribution of this work must maintain attribution to the author(s) and the title of the work, journal citation and DOI.Variations of k-d trees represent a fundamental data structure used in Computational Geometry with numerous applications in science. For example particle track tting in the software of the LHC experiments, and in simulations of N-body systems in the study of dynamics of interacting galaxies, particle beam physics, and molecular dynamics in biochemistry. The many-body tree methods devised by Barnes and Hutt in the 1980s and the Fast Multipole Method introduced in 1987 by Greengard and Rokhlin use variants of k-d trees to reduce the computation time upper bounds to O(n log n) and even O(n) from O(n2). We present an algorithm that uses the principle of well-separated pairs decomposition to always produce compressed trees in O(n log n) work. We present and evaluate parallel implementations for the algorithm that can take advantage of multi-core architectures.The Science and Technology Facilities Council, UK

GRADE equity guidelines 4: guidance on how to assess and address health equity within the evidence to decision process

Objective: The aim of this paper is to provide detailed guidance on how to incorporate health equity within the GRADE (Grading Recommendations Assessment and Development Evidence) evidence to decision process. Study design and setting: We developed this guidance based on the GRADE evidence to decision (EtD) framework, iteratively reviewing and modifying draft documents, in person discussion of project group members and input from other GRADE members. Results: Considering the impact on health equity may be required, both in general guidelines, and guidelines that focus on disadvantaged populations. We suggest two approaches to incorporate equity considerations: 1) assessing the potential impact of interventions on equity and; 2) incorporating equity considerations when judging or weighing each of the evidence to decision criteria. We provide guidance and include illustrative examples. Conclusion: Guideline panels should consider the impact of recommendations on health equity with attention to remote and underserviced settings and disadvantaged populations. Guideline panels may wish to incorporate equity judgments across the evidence to decision framework

Faster than light motion does not imply time travel

Seeing the many examples in the literature of causality violations based on faster-than-light (FTL) signals one naturally thinks that FTL motion leads inevitably to the possibility of time travel. We show that this logical inference is invalid by demonstrating a model, based on (3+1)-dimensional Minkowski spacetime, in which FTL motion is permitted (in every direction without any limitation on speed) yet which does not admit time travel. Moreover, the Principle of Relativity is true in this model in the sense that all observers are equivalent. In short, FTL motion does not imply time travel after all

Development and formative evaluation of the e-Health implementation toolkit

<b>Background</b> The use of Information and Communication Technology (ICT) or e-Health is seen as essential for a modern, cost-effective health service. However, there are well documented problems with implementation of e-Health initiatives, despite the existence of a great deal of research into how best to implement e-Health (an example of the gap between research and practice). This paper reports on the development and formative evaluation of an e-Health Implementation Toolkit (e-HIT) which aims to summarise and synthesise new and existing research on implementation of e-Health initiatives, and present it to senior managers in a user-friendly format.<p></p> <b>Results</b> The content of the e-HIT was derived by combining data from a systematic review of reviews of barriers and facilitators to implementation of e-Health initiatives with qualitative data derived from interviews of "implementers", that is people who had been charged with implementing an e-Health initiative. These data were summarised, synthesised and combined with the constructs from the Normalisation Process Model. The software for the toolkit was developed by a commercial company (RocketScience). Formative evaluation was undertaken by obtaining user feedback. There are three components to the toolkit - a section on background and instructions for use aimed at novice users; the toolkit itself; and the report generated by completing the toolkit. It is available to download from http://www.ucl.ac.uk/pcph/research/ehealth/documents/e-HIT.xls<p></p> <b>Conclusions</b> The e-HIT shows potential as a tool for enhancing future e-Health implementations. Further work is needed to make it fully web-enabled, and to determine its predictive potential for future implementations

Comparative methylome analysis in solid tumors reveals aberrant methylation at chromosome 6p in nasopharyngeal carcinoma

© 2015 The Authors. Cancer Medicine published by John Wiley & Sons Ltd. Altered patterns of DNA methylation are key features of cancer. Nasopharyngeal carcinoma (NPC) has the highest incidence in Southern China. Aberrant methylation at the promoter region of tumor suppressors is frequently reported in NPC; however, genome-wide methylation changes have not been comprehensively investigated. Therefore, we systematically analyzed methylome data in 25 primary NPC tumors and nontumor counterparts using a high-throughput approach with the Illumina HumanMethylation450 BeadChip. Comparatively, we examined the methylome data of 11 types of solid tumors collected by The Cancer Genome Atlas (TCGA). In NPC, the hypermethylation pattern was more dominant than hypomethylation and the majority of de novo methylated loci were within or close to CpG islands in tumors. The comparative methylome analysis reveals hypermethylation at chromosome 6p21.3 frequently occurred in NPC (false discovery rate; FDR=1.33 × 10 -9 ), but was less obvious in other types of solid tumors except for prostate and Epstein-Barr virus (EBV)-positive gastric cancer (FDR < 10 -3 ). Bisulfite pyrosequencing results further confirmed the aberrant methylation at 6p in an additional patient cohort. Evident enrichment of the repressive mark H3K27me3 and active mark H3K4me3 derived from human embryonic stem cells were found at these regions, indicating both DNA methylation and histone modification function together, leading to epigenetic deregulation in NPC. Our study highlights the importance of epigenetic deregulation in NPC. Polycomb Complex 2 (PRC2), responsible for H3K27 trimethylation, is a promising therapeutic target. A key genomic region on 6p with aberrant methylation was identified. This region contains several important genes having potential use as biomarkers for NPC detection.published_or_final_versio