Software X10-UPNP Bridge

IADIS MULTI CONFERENCE ON COMPUTER SCIENCE AND INFORMATION SYSTEMS 2008 Amsterdam, The Netherlands JULY 22 - 24, 2008In a future of smart houses where multiple heterogeneous devices will be interconnected to provide new functionalities and to ease everyday tasks, several issues will challenge the research, including interoperability and interfaces between different systems. The work presented in this paper describes a software bridge that exposes X10 devices as UPnP devices to UPnP control points, banking on the networks integration and alternatives to create mixed installations that are optimized for ease, reliability and functionality

Using and Disclosing Confidential Patient Information and the English Common Law: What are the Information Requirements of a Valid Consent?

The National Health Service in England and Wales is dependent upon the flow of confidential patient data. In the context of consent to the use of patient health data, insistence on the requirements of an ‘informed’ consent that are difficult to achieve will drive reliance on alternatives to consent. Here we argue that one can obtain a valid consent to the disclosure of confidential patient data, such that this disclosure would not amount to a breach of the common law duty of confidentiality, having provided less information than would typically be associated with an ‘informed consent’. This position protects consent as a practicable legal basis for disclosure from debilitating uncertainty or impracticability and, perhaps counter-intuitively, promotes patient autonomy

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000–3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amino acid deletion p.Met922del. Both variants predispose to a distinct mild NF1 phenotype with neither externally visible cutaneous/plexiform neurofibromas nor other tumors. Here, we report 162 individuals (129 unrelated probands and 33 affected relatives) heterozygous for a constitutional missense mutation affecting one of five neighboring NF1 codons—Leu844, Cys845, Ala846, Leu847, and Gly848—located in the cysteine-serine-rich domain (CSRD). Collectively, these recurrent missense mutations affect ∼0.8% of unrelated NF1 mutation-positive probands in the University of Alabama at Birmingham (UAB) cohort. Major superficial plexiform neurofibromas and symptomatic spinal neurofibromas were more prevalent in these individuals compared with classic NF1-affected cohorts (both p < 0.0001). Nearly half of the individuals had symptomatic or asymptomatic optic pathway gliomas and/or skeletal abnormalities. Additionally, variants in this region seem to confer a high predisposition to develop malignancies compared with the general NF1-affected population (p = 0.0061). Our results demonstrate that these NF1 missense mutations, although located outside the GAP-related domain, may be an important risk factor for a severe presentation. A genotype-phenotype correlation at the NF1 region 844–848 exists and will be valuable in the management and genetic counseling of a significant number of individuals

CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Purpose: Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame deletion, c.2970_2972del (p.Met992del), associated with a mild phenotype without any externally visible tumors. Methods: A total of 135 individuals from 103 unrelated families, all carrying the constitutional NF1 p.Met992del pathogenic variant and clinically assessed using the same standardized phenotypic checklist form, were included in this study. Results: None of the individuals had externally visible plexiform or histopathologically confirmed cutaneous or subcutaneous neurofibromas. We did not identify any complications, such as symptomatic optic pathway gliomas (OPGs) or symptomatic spinal neurofibromas; however, 4.8% of individuals had nonoptic brain tumors, mostly low-grade and asymptomatic, and 38.8% had cognitive impairment/learning disabilities. In an individual with the NF1 constitutional c.2970_2972del and three astrocytomas, we provided proof that all were NF1-associated tumors given loss of heterozygosity at three intragenic NF1 microsatellite markers and c.2970_297

Effectiveness of redesigned larger grain stripping tools on stripping Sorghum Bicolor grains off the panicles.

An experimental rotational grain-stripping rig device was fabricated to study the effect of using the larger re-designed stripping tools as compared to conventional smaller existing stripping tools to strip sorghum grain off the grain panicles. The redesigning of the stripping tools involved increasing their sizes by a scale factor of 1.5X and 2X over the current commercially available stripping tool. The stripping tools are attached to the drum such that they lean in the direction of the drum rotation at advance angles of 15° which is as in the current commercial machines setting. The three re-designed larger stripping tools, 1.5X*20deg, 1.5X*30deg and 2X*20deg yielded mean un-stripped grain loss of 0.3%, 1.0% and 0.8% respectively which was a significantly improved performance than the 1X*30deg which had 4.5% mean un-stripped grain loss. The study therefore shows that sorghum strip harvesting can be improved with appropriately designed stripping tools

Design, fabrication and operation of a static laboratory grain stripping rig for the study of stripping of sorghum panicles by various stripping tools.

Cereals like sorghum, maize, wheat, barley and rice are the most important sources of food for billions of people globally. They are consumed in different forms such as porridge, bread, and rice and used in various beverages. Conventional harvesters used to harvest these grains cut and feed a lot of straw together with grain into the threshing machine. However a more recent method strips grain rich material with a reduced amount of materials other than grain (MOG). A laboratory stripper rig designed for this study consists of three major components; a mounted stripper drum with attached stripping tools, a sample feeding mechanism, and the source of power and its controls. With this device laboratory stripping tests of cereal grains can be performed safely