E-Voting in an ubicomp world: trust, privacy, and social implications

The advances made in technology have unchained the user from the desktop into interactions where access is anywhere, anytime. In addition, the introduction of ubiquitous computing (ubicomp) will see further changes in how we interact with technology and also socially. Ubicomp evokes a near future in which humans will be surrounded by “always-on,” unobtrusive, interconnected intelligent objects where information is exchanged seamlessly. This seamless exchange of information has vast social implications, in particular the protection and management of personal information. This research project investigates the concepts of trust and privacy issues specifically related to the exchange of e-voting information when using a ubicomp type system

Syndromes with congenital brittle bones

BACKGROUND: There is no clear definition of osteogenesis imperfecta (OI). The most widely used classification of OI divides the disease in four types, although it has been suggested that there may be at least 12 forms of OI. These forms have been named with numbers, eponyms or descriptive names. Some of these syndromes can actually be considered congenital forms of brittle bones resembling OI (SROI). DISCUSSION: A review of different syndromes with congenital brittle bones published in the literature is presented. Syndromes are classified in "OI" (those secondary to mutations in the type I pro-collagen genes), and "syndromes resembling OI" (those secondary to mutations other that the type I pro-collagen genes, identified or not). A definition for OI is proposed as a syndrome of congenital brittle bones secondary to mutations in the genes codifying for pro-collagen genes (COL1A1 and COL1A2). SUMMARY: A debate about the definition of OI and a possible clinical and prognostic classification are warranted

The differential diagnosis of children with joint hypermobility: a review of the literature

<p>Abstract</p> <p>Background</p> <p>In this study we aimed to identify and review publications relating to the diagnosis of joint hypermobility and instability and develop an evidence based approach to the diagnosis of children presenting with joint hypermobility and related symptoms.</p> <p>Methods</p> <p>We searched Medline for papers with an emphasis on the diagnosis of joint hypermobility, including Heritable Disorders of Connective Tissue (HDCT).</p> <p>Results</p> <p>3330 papers were identified: 1534 pertained to instability of a particular joint; 1666 related to the diagnosis of Ehlers Danlos syndromes and 330 related to joint hypermobility.</p> <p>There are inconsistencies in the literature on joint hypermobility and how it relates to and overlaps with milder forms of HDCT. There is no reliable method of differentiating between Joint Hypermobility Syndrome, familial articular hypermobility and Ehlers-Danlos syndrome (hypermobile type), suggesting these three disorders may be different manifestations of the same spectrum of disorders. We describe our approach to children presenting with joint hypermobility and the published evidence and expert opinion on which this is based.</p> <p>Conclusion</p> <p>There is value in identifying both the underlying genetic cause of joint hypermobility in an individual child and those hypermobile children who have symptoms such as pain and fatigue and might benefit from multidisciplinary rehabilitation management.</p> <p>Every effort should be made to diagnose the underlying disorder responsible for joint hypermobility which may only become apparent over time. We recommend that the term "Joint Hypermobility Syndrome" is used for children with symptomatic joint hypermobility resulting from any underlying HDCT and that these children are best described using <b>both </b>the term Joint Hypermobility Syndrome <b>and </b>their HDCT diagnosis.</p

Binding deficits in visual short-term memory in patients with temporal lobe lobectomy.

Classical views of the medial temporal lobe (MTL) have established that it plays a crucial role in long-term memory (LTM). Here we demonstrate, in a sample of patients who have undergone anterior temporal lobectomy for the treatment of pharmacoresistant epilepsy, that the MTL additionally plays a specific, causal role in short-term memory (STM). Patients (n=22) and age-matched healthy control participants (n=26) performed a STM task with a sensitive continuous report measure. This paradigm allowed us to examine recall memory for object identity, location and object-location binding, independently on a trial-by-trial basis. Our findings point to a specific involvement of MTL in object-location binding, but, crucially, not retention of either object identity or location. Therefore the MTL appears to perform a specific computation: binding disparate features that belong to a memory. These results echo findings from previous studies, which have identified a role for the MTL in relational binding for LTM, and support the proposal that MTL regions perform such a function for both STM and LTM, independent of the retention duration. Furthermore, these findings and the methodology employed here may provide a simple, sensitive and clinically valuable means to test memory dysfunuction in MTL disorders

Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice

Next generation sequencing (NGS) is a rapidly developing area in genetics. Utilizing this technology in the management of disorders with complex genetic background and not recurrent mutation hot spots can be extremely useful. In this study, we applied NGS, namely semiconductor sequencing to determine the most significant osteogenesis imperfecta-related genetic variants in the clinical practice. We selected genes coding collagen type I alpha-1 and-2 (COL1A1, COL1A2) which are responsible for more than 90% of all cases. CRTAP and LEPRE1/P3H1 genes involved in the background of the recessive forms with relatively high frequency (type VII and VIII) represent less than 10% of the disease. In our six patients (1-41 years), we identified 23 different variants. We found a total of 14 single nucleotide variants (SNV) in COL1A1 and COL1A2, 5 in CRTAP and 4 in LEPRE1. Two novel and two already well-established pathogenic SNVs have been identified. Among the newly recognized mutations, one results in an amino acid change and one of them is a stop codon. We have shown that a new full-scale cost-effective NGS method can be developed and utilized to supplement diagnostic process of osteogenesis imperfecta with molecular genetic data in clinical practice

A Novel Mechanism Is Involved in Cationic Lipid-Mediated Functional siRNA Delivery

A key challenge for therapeutic application of RNA interference is to efficiently deliver synthetic small interfering RNAs (siRNAs) into target cells that will lead to the knockdown of the target transcript (functional siRNA delivery). To facilitate rational development of nonviral carriers, we have investigated by imaging, pharmacological and genetic approaches the mechanisms by which a cationic lipid carrier mediates siRNA delivery into mammalian cells. We show that 95% of siRNA lipoplexes enter the cells through endocytosis and persist in endolysosomes for a prolonged period of time. However, inhibition of clathrin-, caveolin-, or lipid-raft-mediated endocytosis or macropinocytosis fails to inhibit the knockdown of the target transcript. In contrast, depletion of cholesterol from the plasma membrane has little effect on the cellular uptake of siRNA lipoplexes, but it abolishes the target transcript knockdown. Furthermore, functional siRNA delivery occurs within a few hours and is gradually inhibited by lowering temperatures. These results demonstrate that although endocytosis is responsible for the majority of cellular uptake of siRNA lipoplexes, a minor pathway, probably mediated by fusion between siRNA lipoplexes and the plasma membrane, is responsible for the functional siRNA delivery. Our findings suggest possible directions for improving functional siRNA delivery by cationic lipids.National Institutes of Health (U.S.) (NIH Grant AI56267)National Institutes of Health (U.S.) (NIH Grant CA112967)National Institutes of Health (U.S.) (NIH Grant CA119349)Natural Sciences and Engineering Research Council of Canada (NSERC) (Post-doctoral fellowship

Lay perceptions of evidence-based information – a qualitative evaluation of a website for back pain sufferers

BACKGROUND: In an evidence-informed patient choice the patient has access to research-based information about the effectiveness of health care options and is encouraged to use this information in treatment decisions. This concept has seen growing popularity in recent years. However, we still know relatively little about users' attitudes to the use of research-based information, possibly because people have been unexposed to this type of information. After developing the BackInfo website where the results of Cochrane systematic reviews on the effects of low back pain were adapted and presented to lay users we evaluated how users responded to this information. METHODS: Focus group meetings were held with 18 chronic back pain sufferers, after they had been sent a link to the website before the meetings. RESULTS: The focus groups suggest that the most important challenges to the use of BackInfo's research-based information are not primarily tied to the comprehension or presentation of the information, but are mainly associated with participants' attitudes towards the credibility of research and researchers, and the applicability of research results to themselves as individuals. Possible explanations for participants' lack of trust in research and their apparent difficulties in applying this research to their own situations include aspects that may be typical for the general public including the media's presentation of research, and a lack of familiarity with and feelings of distance to research evidence. Other aspects may be typical for patient groups with chronic and unclear medical conditions, such as a lack of trust in the health care establishment in general. CONCLUSION: In order to enhance the credibility and applicability of research evidence, providers of research-based information could explore a number of possibilities including the use of including personal stories to illustrate the research outcomes

Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model

Osteogenesis imperfecta (OI) is a heritable form of bone fragility typically associated with a dominant COL1A1 or COL1A2 mutation. Variable phenotype for OI patients with identical collagen mutations is well established, but phenotype variability is described using the qualitative Sillence classification. Patterning a new OI mouse model on a specific collagen mutation therefore has been hindered by the absence of an appropriate kindred with extensive quantitative phenotype data. We benefited from the large sibships of the Old Order Amish (OOA) to define a wide range of OI phenotypes in 64 individuals with the identical COL1A2 mutation. Stratification of carrier spine (L1–4) areal bone mineral density (aBMD) Z -scores demonstrated that 73% had moderate to severe disease (less than −2), 23% had mild disease (−1 to −2), and 4% were in the unaffected range (greater than −1). A line of knock-in mice was patterned on the OOA mutation. Bone phenotype was evaluated in four F 1 lines of knock-in mice that each shared approximately 50% of their genetic background. Consistent with the human pedigree, these mice had reduced body mass, aBMD, and bone strength. Whole-bone fracture susceptibility was influenced by individual genomic factors that were reflected in size, shape, and possibly bone metabolic regulation. The results indicate that the G610C OI (Amish) knock-in mouse is a novel translational model to identify modifying genes that influence phenotype and for testing potential therapies for OI. © 2010 American Society for Bone and Mineral ResearchPeer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/65040/1/90720_ftp.pd

Computer tomographic investigation of subcutaneous adipose tissue as an indicator of body composition

<p>Abstract</p> <p>Background</p> <p>Modern computer tomography (CT) equipment can be used to acquire whole-body data from large animals such as pigs in minutes or less. In some circumstances, computer assisted analysis of the resulting image data can identify and measure anatomical features. The thickness of subcutaneous adipose tissue at a specific site measured by ultrasound, is used in the pig industry to assess adiposity and inform management decisions that have an impact on reproduction, food conversion performance and sow longevity. The measurement site, called "P2", is used throughout the industry. We propose that CT can be used to measure subcutaneous adipose tissue thickness and identify novel measurement sites that can be used as predictors of general adiposity.</p> <p>Methods</p> <p>Growing pigs (<it>N </it>= 12), were each CT scanned on three occasions. From these data the total volume of adipose tissue was determined and expressed as a proportion of total volume (fat-index). A computer algorithm was used to determined 10,201 subcutaneous adipose thickness measurements in each pig for each scan. From these data, sites were selected where correlation with fat-index was optimal.</p> <p>Results</p> <p>Image analysis correctly identified the limits of the relevant tissues and automated measurements were successfully generated. Two sites on the animal were identified where there was optimal correlation with fat-index. The first of these was located 4 intercostal spaces cranial to the caudal extremity of the last rib, the other, a further 5 intercostal spaces cranially.</p> <p>Conclusion</p> <p>The approach to image analysis reported permits the creation of various maps showing adipose thickness or correlation of thickness with other variables by location on the surface of the pig. The method identified novel adipose thickness measurement positions that are superior (as predictors of adiposity) to the site which is in current use. A similar approach could be used in other situations to quantify potential links between subcutaneous adiposity and disease or production traits.</p