899 resultados para Familial cases


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This is a survey of the applicable international human rights standards concerning the right which alleged terrorists have to access a lawyer.

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We investigate the basic behavior and performance of simulated quantum annealing (QA) in comparison with classical annealing (CA). Three simple one-dimensional case study systems are considered: namely, a parabolic well, a double well, and a curved washboard. The time-dependent Schrodinger evolution in either real or imaginary time describing QA is contrasted with the Fokker-Planck evolution of CA. The asymptotic decrease of excess energy with annealing time is studied in each case, and the reasons for differences are examined and discussed. The Huse-Fisher classical power law of double-well CA is replaced with a different power law in QA. The multiwell washboard problem studied in CA by Shinomoto and Kabashima and leading classically to a logarithmic annealing even in the absence of disorder turns to a power-law behavior when annealed with QA. The crucial role of disorder and localization is briefly discussed.

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This paper contributes a new approach for developing UML software designs from Natural Language (NL), making use of a meta-domain oriented ontology, well established software design principles and Natural Language Processing (NLP) tools. In the approach described here, banks of grammatical rules are used to assign event flows from essential use cases. A domain specific ontology is also constructed, permitting semantic mapping between the NL input and the modeled domain. Rules based on the widely-used General Responsibility Assignment Software Principles (GRASP) are then applied to derive behavioral models.

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Aim (1)
A pilot study to determine the accuracy of interpretation of whole slide digital images in a broad range of general histopathology cases of graded complexity. (2) To survey the participating histopathologists with regard to acceptability of digital pathology.

Materials and methods
Glass slides of 100 biopsies and minor resections were digitally scanned in their entirety, producing digital slides. These cases had been diagnosed by light microscopy at least 1 year previously and were subsequently reassessed by the original reporting pathologist (who was blinded to their original diagnosis) using digital pathology. The digital pathology-based diagnosis was compared with the original glass slide diagnosis and classified as concordant, slightly discordant (without clinical consequence) or discordant. The participants were surveyed at the end of the study.

Results
There was concordance between the original light microscopy diagnosis and digital pathology-based diagnosis in 95 of the 100 cases while the remaining 5 cases showed only slight discordance (with no clinical consequence). None of the cases were categorised as discordant. Participants had mixed experiences using digital pathology technology.

Conclusions
In the broad range of cases we examined, digital pathology is a safe and viable method of making a primary histopathological diagnosis.

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This casebook, the result of the collaborative efforts of a panel of experts from various EU Member States, is the latest in the Ius Commune Casebook series developed at the Universities of Maastricht and Leuven. The book provides a comprehensive and skilfully designed resource for students, practitioners, researchers, public officials, NGOs, consumer organisations and the judiciary. In common with earlier books in the series, this casebook presents cases and other materials (legislative materials, international and European materials, excerpts from books or articles). As non-discrimination law is a comparatively new subject, the chapters search for and develop the concepts of discrimination law on the basis of a wide variety of young and often still emerging case law and legislation. The result is a comprehensive textbook with materials from a wide variety of EU Member States. The book is entirely in English (i.e. materials are translated where not available in English). At the end of each chapter a comparative overview ties the material together, with emphasis, where appropriate, on existing or emerging general principles in the legal systems within Europe.
The book illustrates the distinct relationship between international, European and national legislation in the field of non-discrimination law. It covers the grounds of discrimination addressed in the Racial Equality and Employment Equality Directives, as well as non-discrimination law relating to gender. In so doing, it covers the law of a large number of EU Member States, alongside some international comparisons.
The Ius Commune Casebook on Non-Discrimination Law
- provides practitioners with ready access to primary and secondary legal material needed to assist them in crafting test case strategies.
- provides the judiciary with the tools needed to respond sensitively to such cases.
- provides material for teaching non-discrimination law to law and other students.
- provides a basis for ongoing research on non-discrimination law.
- provides an up-to-date overview of the implementation of the Directives and of the state of the law.
This Casebook is the result of a project which has been supported by a grant from the European Commission's Anti-Discrimination Programme.

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This chapter discusses the use of proportionality in age discrimination cases before the Court of Justice of the European Union. It argues that the Court does not use this concept systematically - indeed it exposes some contradiction that make the case law seem arbitrary - and proposes a more fruitful use of the principle, which is in line with a modern conception of human rights. The chapter argues that the principle of proportionality stems from the time when human rights served the recently liberated burgeois elite in guarding their rights to property and liberty against the state. Today, states not only respect human rights (which is fully sufficient for this elite, who can rely on their inherited wealth to fend for themselves). They also protect and promote human rights, and these activities are a precondition for human rights to be practically relevant for the whole population. This also means that state activity, which is experienced as a limitation of rights to property and liberty by some, may constitute a measure to promote and protect human rights of others. In employment law - the only field where the EU ban on age discrimination is applied - this is a typical situation. If such a situation occurs, the principle of proportionality must be applied in a bifurcated way.It is not sufficient that the limitation of property rights is proportionate for the achievement of a public policy aim. If the aim of public policy is to enable the effective use of human rights, the limitation of the state action must be proportionate to the protection and promotion of those human rights. It is argued that the principle of proportionality is superior to less structures balancing acts (e.g. the Wednesbury principle), if it is applied both ways. Going over to the field of age discrimination, the chapter identifies a number of potentially colliding aims pursued in this field. Banning age discrimination may relate to genuine aims of anti-discrimination law if bias against older or very young workers is addressed. However, the EU ban of discrimination against all ages also serves to restructure employment law and policy to the age of flexibilisation, replacing the synchronisation principle that has been predominant for the welfare states of the 20th century. The former aim is related to human rights protection, while the latter aim is not (at least not always). This has consequences for applying the proportionality test. The chapter proposes different ways to argue the most difficult age discrimination cases, where anti-discrimination rationales and flexibilisation rationales clash

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This article analyses the relevance of the ECJ ruling in Junk for German labour law.

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To assess factors influencing the success of whole-genome sequencing for mainstream clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families across a broad spectrum of disorders in whom previous screening had identified no pathogenic variants. We quantified the number of candidate variants identified using different strategies for variant calling, filtering, annotation and prioritization. We found that jointly calling variants across samples, filtering against both local and external databases, deploying multiple annotation tools and using familial transmission above biological plausibility contributed to accuracy. Overall, we identified disease-causing variants in 21% of cases, with the proportion increasing to 34% (23/68) for mendelian disorders and 57% (8/14) in family trios. We also discovered 32 potentially clinically actionable variants in 18 genes unrelated to the referral disorder, although only 4 were ultimately considered reportable. Our results demonstrate the value of genome sequencing for routine clinical diagnosis but also highlight many outstanding challenges.

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The adaptor protein-2 sigma subunit (AP2sigma;2) is pivotal for clathrin-mediated endocytosis of plasma membrane constituents such as the calcium-sensing receptor (CaSR). Mutations of the AP2sigma;2 Arg15 residue result in familial hypocalciuric hypercalcaemia type 3 (FHH3), a disorder of extracellular calcium (Ca<inf>o</inf><sup>2+</sup>) homeostasis. To elucidate the role of AP2sigma;2 in Ca<inf>o</inf><sup>2+</sup> regulation, we investigated 65 FHH probands, without other FHH-associated mutations, for AP2sigma;2 mutations, characterized their functional consequences and investigated the genetic mechanisms leading to FHH3. AP2sigma;2 mutations were identified in 17 probands, comprising 5 Arg15Cys, 4 Arg15His and 8 Arg15Leu mutations. A genotype-phenotype correlation was observed with the Arg15Leu mutation leading to marked hypercalcaemia. FHH3 probands harboured additional phenotypes such as cognitive dysfunction. All three FHH3-causing AP2sigma;2 mutations impaired CaSR signal transduction in a dominant-negative manner. Mutational bias was observed at the AP2sigma;2 Arg15 residue as other predicted missense substitutions (Arg15Gly, Arg15Pro and Arg15Ser), which also caused CaSR loss-of-function, were not detected in FHH probands, and these mutations were found to reduce the numbers of CaSR-expressing cells. FHH3 probands had significantly greater serum calcium (sCa) and magnesium (sMg) concentrations with reduced urinary calcium to creatinine clearance ratios (CCCR) in comparison with FHH1 probands with CaSR mutations, and a calculated index of sCa × sMg/100 × CCCR, which was ≥ 5.0, had a diagnostic sensitivity and specificity of 83 and 86%, respectively, for FHH3. Thus, our studies demonstrate AP2sigma;2 mutations to result in a more severe FHH phenotype with genotype-phenotype correlations, and a dominant-negative mechanism of action with mutational bias at the Arg15 residue.