760 research outputs found

    Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing:a population-based study

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    Background<p></p> Familial hypercholesterolaemia (FH) is a common Mendelian condition which, untreated, results in premature coronary heart disease. An estimated 88% of FH cases are undiagnosed in the UK. We previously validated a method for FH mutation detection in a lipid clinic population using next generation sequencing (NGS), but this did not address the challenge of identifying index cases in primary care where most undiagnosed patients receive healthcare. Here, we evaluate the targeted use of NGS as a potential route to diagnosis of FH in a primary care population subset selected for hypercholesterolaemia.<p></p> Methods<p></p> We used microfluidics-based PCR amplification coupled with NGS and multiplex ligation-dependent probe amplification (MLPA) to detect mutations in LDLR, APOB and PCSK9 in three phenotypic groups within the Generation Scotland: Scottish Family Health Study including 193 individuals with high total cholesterol, 232 with moderately high total cholesterol despite cholesterol-lowering therapy, and 192 normocholesterolaemic controls.<p></p> Results<p></p> Pathogenic mutations were found in 2.1% of hypercholesterolaemic individuals, in 2.2% of subjects on cholesterol-lowering therapy and in 42% of their available first-degree relatives. In addition, variants of uncertain clinical significance (VUCS) were detected in 1.4% of the hypercholesterolaemic and cholesterol-lowering therapy groups. No pathogenic variants or VUCS were detected in controls.<p></p> Conclusions<p></p> We demonstrated that population-based genetic testing using these protocols is able to deliver definitive molecular diagnoses of FH in individuals with high cholesterol or on cholesterol-lowering therapy. The lower cost and labour associated with NGS-based testing may increase the attractiveness of a population-based approach to FH detection compared to genetic testing with conventional sequencing. This could provide one route to increasing the present low percentage of FH cases with a genetic diagnosis

    Nachhaltigkeit im industriellen Umfeld

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    Im Rahmen der Lehrveranstaltung "Nachhaltigkeit im industriellen Umfeld" im Masterstudiengang Umwelt- und Verfahrenstechnik der Hochschulen Konstanz und Ravensburg-Weingarten wurde 2015 eine studentische Fachkonferenz durchgefĂŒhrt. Die Studierenden entwickelten in Einzelarbeit oder als Zweierteam KonferenzbeitrĂ€ge zu folgenden Themen: - Innovationen und Spannendes aus dem Bereich der Energieerzeugung und -wandlung - Aspekte der Schließung von StoffkreislĂ€ufen und Vermeidung von SchadstoffeintrĂ€gen in die Umwelt - Chancen und Herausforderungen Nachwachsender Rohstoffe bei verschiedenen Einsatzmöglichkeiten sowie Themen der Nachhaltigkeit in der Landwirtschaft - verschiedene Blickwinkel auf das Thema Wasser (von der Abwasserreinigung bis zum Wasserkonsum der Konsumenten) - die Betrachtung spezifischer Industrien und Unternehmen sowie deren Werkzeuge zur Umsetzung von Nachhaltigkeit Die Ergebnisse der studentischen Fachkonferenz zur „Nachhaltigkeit im industriellen Umfeld“ werden in der vorliegenden Publikation prĂ€sentiert

    Fibromyalgia and neuropathic pain - differences and similarities. A comparison of 3057 patients with diabetic painful neuropathy and fibromyalgia

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    <p>Abstract</p> <p>Background</p> <p>Patients with diabetic neuropathy (DPN) and fibromyalgia differ substantially in pathogenetic factors and the spatial distribution of the perceived pain. We questioned whether, despite these obvious differences, similar abnormal sensory complaints and pain qualities exist in both entities. We hypothesized that similar sensory symptoms might be associated with similar mechanisms of pain generation. The aims were (1) to compare epidemiological features and co-morbidities and (2) to identify similarities and differences of sensory symptoms in both entities.</p> <p>Methods</p> <p>The present multi-center study compares epidemiological data and sensory symptoms of a large cohort of 1434 fibromyalgia patients and 1623 patients with painful diabetic neuropathy. Data acquisition included standard demographic questions and self-report questionnaires (MOS sleep scale, PHQ-9, Pain<it>DETECT</it>). To identify subgroups of patients with characteristic combinations of symptoms (sensory profiles) a cluster analysis was performed using all patients in both cohorts.</p> <p>Results</p> <p>Significant differences in co-morbidities (depression, sleep disturbance) were found between both disorders. Patients of both aetiologies chose very similar descriptors to characterize their sensory perceptions. Burning pain, prickling and touch-evoked allodynia were present in the same frequency. Five subgroups with distinct symptom profiles could be detected. Two of the subgroups were characteristic for fibromyalgia whereas one profile occurred predominantly in DPN patients. Two profiles were found frequently in patients of both entities (20-35%).</p> <p>Conclusions</p> <p>DPN and fibromyalgia patients experience very similar sensory phenomena. The combination of sensory symptoms - the sensory profile - is in most cases distinct and almost unique for each one of the two entities indicating aetiology-specific mechanisms of symptom generation. Beside the unique aetiology-specific sensory profiles an overlap of sensory profiles can be found in 20-35% of patients of both aetiologies.</p

    European Language Grid: A Joint Platform for the European Language Technology Community

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    Europe is a multilingual society, in which dozens of languages are spoken. The only option to enable and to benefit from multilingualism is through Language Technologies (LT), i.e., Natural Language Processing and Speech Technologies. We describe the European Language Grid (ELG), which is targeted to evolve into the primary platform and marketplace for LT in Europe by providing one umbrella platform for the European LT landscape, including research and industry, enabling all stakeholders to upload, share and distribute their services, products and resources. At the end of our EU project, which will establish a legal entity in 2022, the ELG will provide access to approx. 1300 services for all European languages as well as thousands of data sets

    European Language Grid: An Overview

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    With 24 official EU and many additional languages, multilingualism in Europe and an inclusive Digital Single Market can only be enabled through Language Technologies (LTs). European LT business is dominated by hundreds of SMEs and a few large players. Many are world-class, with technologies that outperform the global players. However, European LT business is also fragmented – by nation states, languages, verticals and sectors, significantly holding back its impact. The European Language Grid (ELG) project addresses this fragmentation by establishing the ELG as the primary platform for LT in Europe. The ELG is a scalable cloud platform, providing, in an easy-to-integrate way, access to hundreds of commercial and non-commercial LTs for all European languages, including running tools and services as well as data sets and resources. Once fully operational, it will enable the commercial and non-commercial European LT community to deposit and upload their technologies and data sets into the ELG, to deploy them through the grid, and to connect with other resources. The ELG will boost the Multilingual Digital Single Market towards a thriving European LT community, creating new jobs and opportunities. Furthermore, the ELG project organises two open calls for up to 20 pilot projects. It also sets up 32 national competence centres and the European LT Council for outreach and coordination purposes

    CoNLL 2017 Shared Task : Multilingual Parsing from Raw Text to Universal Dependencies

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    The Conference on Computational Natural Language Learning (CoNLL) features a shared task, in which participants train and test their learning systems on the same data sets. In 2017, one of two tasks was devoted to learning dependency parsers for a large number of languages, in a real world setting without any gold-standard annotation on input. All test sets followed a unified annotation scheme, namely that of Universal Dependencies. In this paper, we define the task and evaluation methodology, describe data preparation, report and analyze the main results, and provide a brief categorization of the different approaches of the participating systems.Peer reviewe
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