The Practitioner Perspective on Access to Justice for Social Rights: Addressing the Accountability Gap

First paragraph: This report examines access to justice for social rights across the UK drawing on legal and empirical data across each of the UK’s jurisdictions. Social rights form part of the international human rights framework, including the right to housing, the right to food and fuel and the right to social security. State parties who have signed up to the international framework are under an obligation to protect these rights in the domestic context, this includes the UK. As part of its international obligations the UK is required to provide access to an effective remedy if there is a failure to meet these obligations. We adopt a conceptualisation of access to justice using this international human rights law lens (that remedies are “accessible, affordable, timely and effective”). The research therefore examines whether people in the UK who experience a violation of the rights to housing, food, fuel or social security are able to access effective remedies to address that violation. We interviewed practitioners in each of the UK’s jurisdictions to better understand the access to justice journey for social rights. As this report demonstrates, it became clear that the UK and its devolved jurisdictions consists of a complex (legal) framework that intersects with international and domestic laws and institutions, politics, public services and the third sector, e.g. non-governmental agencies (NGOs) that serve and work with rights holders seeking to access justice. Our report recognises that the research we undertook barely touches the surface of access to justice for social rights violations and we hope this report serves as the basis for numerous future studies to enquire further and deeper into an increasingly emergent field of innovative interdisciplinary study. Ultimately, the aim of the research and the report seeks to better equip those who support rights holders accessing justice for social rights claims – there is a significant accountability gap in this respect across the UK and a pressing need to address this gap

The Practitioner Perspective on Access to Justice for Social Rights: Addressing the Accountability Gap

First paragraph: This report examines access to justice for social rights across the UK drawing on legal and empirical data across each of the UK’s jurisdictions. Social rights form part of the international human rights framework, including the right to housing, the right to food and fuel and the right to social security. State parties who have signed up to the international framework are under an obligation to protect these rights in the domestic context, this includes the UK. As part of its international obligations the UK is required to provide access to an effective remedy if there is a failure to meet these obligations. We adopt a conceptualisation of access to justice using this international human rights law lens (that remedies are “accessible, affordable, timely and effective”). The research therefore examines whether people in the UK who experience a violation of the rights to housing, food, fuel or social security are able to access effective remedies to address that violation. We interviewed practitioners in each of the UK’s jurisdictions to better understand the access to justice journey for social rights. As this report demonstrates, it became clear that the UK and its devolved jurisdictions consists of a complex (legal) framework that intersects with international and domestic laws and institutions, politics, public services and the third sector, e.g. non-governmental agencies (NGOs) that serve and work with rights holders seeking to access justice. Our report recognises that the research we undertook barely touches the surface of access to justice for social rights violations and we hope this report serves as the basis for numerous future studies to enquire further and deeper into an increasingly emergent field of innovative interdisciplinary study. Ultimately, the aim of the research and the report seeks to better equip those who support rights holders accessing justice for social rights claims – there is a significant accountability gap in this respect across the UK and a pressing need to address this gap

Machine Learning Techniques for the Detection of Shockable Rhythms in Automated External Defibrillators

Early recognition of ventricular fibrillation (VF) and electrical therapy are key for the survivalof out-of-hospital cardiac arrest (OHCA) patients treated with automated external defibrilla-tors (AED). AED algorithms for VF-detection are customarily assessed using Holter record-ings from public electrocardiogram (ECG) databases, which may be different from the ECGseen during OHCA events. This study evaluates VF-detection using data from both OHCApatients and public Holter recordings. ECG-segments of 4-s and 8-s duration were ana-lyzed. For each segment 30 features were computed and fed to state of the art machinelearning (ML) algorithms. ML-algorithms with built-in feature selection capabilities wereused to determine the optimal feature subsets for both databases. Patient-wise bootstraptechniques were used to evaluate algorithm performance in terms of sensitivity (Se), speci-ficity (Sp) and balanced error rate (BER). Performance was significantly better for publicdata with a mean Se of 96.6%, Sp of 98.8% and BER 2.2% compared to a mean Se of94.7%, Sp of 96.5% and BER 4.4% for OHCA data. OHCA data required two times morefeatures than the data from public databases for an accurate detection (6 vs 3). No signifi-cant differences in performance were found for different segment lengths, the BER differ-ences were below 0.5-points in all cases. Our results show that VF-detection is morechallenging for OHCA data than for data from public databases, and that accurate VF-detection is possible with segments as short as 4-s

Integrated analysis of climate, soil, topography and vegetative growth in Iberian viticultural regions

The Iberian viticultural regions are convened according to the Denomination of Origin (DO) and present different climates, soils, topography and management practices. All these elements influence the vegetative growth of different varieties throughout the peninsula, and are tied to grape quality and wine type. In the current study, an integrated analysis of climate, soil, topography and vegetative growth was performed for the Iberian DO regions, using state-of-the-art datasets. For climatic assessment, a categorized index, accounting for phenological/thermal development, water availability and grape ripening conditions was computed. Soil textural classes were established to distinguish soil types. Elevation and aspect (orientation) were also taken into account, as the leading topographic elements. A spectral vegetation index was used to assess grapevine vegetative growth and an integrated analysis of all variables was performed. The results showed that the integrated climate-soil-topography influence on vine performance is evident. Most Iberian vineyards are grown in temperate dry climates with loamy soils, presenting low vegetative growth. Vineyards in temperate humid conditions tend to show higher vegetative growth. Conversely, in cooler/warmer climates, lower vigour vineyards prevail and other factors, such as soil type and precipitation acquire more important roles in driving vigour. Vines in prevailing loamy soils are grown over a wide climatic diversity, suggesting that precipitation is the primary factor influencing vigour. The present assessment of terroir characteristics allows direct comparison among wine regions and may have great value to viticulturists, particularly under a changing climate

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

BACKGROUND: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. National Health Service. Other parts of this project focus on patients with cancer and infection. METHODS: We conducted a pilot study involving 4660 participants from 2183 families, among whom 161 disorders covering a broad spectrum of rare diseases were present. We collected data on clinical features with the use of Human Phenotype Ontology terms, undertook genome sequencing, applied automated variant prioritization on the basis of applied virtual gene panels and phenotypes, and identified novel pathogenic variants through research analysis. RESULTS: Diagnostic yields varied among family structures and were highest in family trios (both parents and a proband) and families with larger pedigrees. Diagnostic yields were much higher for disorders likely to have a monogenic cause (35%) than for disorders likely to have a complex cause (11%). Diagnostic yields for intellectual disability, hearing disorders, and vision disorders ranged from 40 to 55%. We made genetic diagnoses in 25% of the probands. A total of 14% of the diagnoses were made by means of the combination of research and automated approaches, which was critical for cases in which we found etiologic noncoding, structural, and mitochondrial genome variants and coding variants poorly covered by exome sequencing. Cohortwide burden testing across 57,000 genomes enabled the discovery of three new disease genes and 19 new associations. Of the genetic diagnoses that we made, 25% had immediate ramifications for clinical decision making for the patients or their relatives. CONCLUSIONS: Our pilot study of genome sequencing in a national health care system showed an increase in diagnostic yield across a range of rare diseases. (Funded by the National Institute for Health Research and others.)

Demographic, clinical and antibody characteristics of patients with digital ulcers in systemic sclerosis: data from the DUO Registry

OBJECTIVES: The Digital Ulcers Outcome (DUO) Registry was designed to describe the clinical and antibody characteristics, disease course and outcomes of patients with digital ulcers associated with systemic sclerosis (SSc). METHODS: The DUO Registry is a European, prospective, multicentre, observational, registry of SSc patients with ongoing digital ulcer disease, irrespective of treatment regimen. Data collected included demographics, SSc duration, SSc subset, internal organ manifestations, autoantibodies, previous and ongoing interventions and complications related to digital ulcers. RESULTS: Up to 19 November 2010 a total of 2439 patients had enrolled into the registry. Most were classified as either limited cutaneous SSc (lcSSc; 52.2%) or diffuse cutaneous SSc (dcSSc; 36.9%). Digital ulcers developed earlier in patients with dcSSc compared with lcSSc. Almost all patients (95.7%) tested positive for antinuclear antibodies, 45.2% for anti-scleroderma-70 and 43.6% for anticentromere antibodies (ACA). The first digital ulcer in the anti-scleroderma-70-positive patient cohort occurred approximately 5 years earlier than the ACA-positive patient group. CONCLUSIONS: This study provides data from a large cohort of SSc patients with a history of digital ulcers. The early occurrence and high frequency of digital ulcer complications are especially seen in patients with dcSSc and/or anti-scleroderma-70 antibodies

Stroke genetics informs drug discovery and risk prediction across ancestries

Previous genome-wide association studies (GWASs) of stroke — the second leading cause of death worldwide — were conducted predominantly in populations of European ancestry1,2. Here, in cross-ancestry GWAS meta-analyses of 110,182 patients who have had a stroke (five ancestries, 33% non-European) and 1,503,898 control individuals, we identify association signals for stroke and its subtypes at 89 (61 new) independent loci: 60 in primary inverse-variance-weighted analyses and 29 in secondary meta-regression and multitrait analyses. On the basis of internal cross-ancestry validation and an independent follow-up in 89,084 additional cases of stroke (30% non-European) and 1,013,843 control individuals, 87% of the primary stroke risk loci and 60% of the secondary stroke risk loci were replicated (P < 0.05). Effect sizes were highly correlated across ancestries. Cross-ancestry fine-mapping, in silico mutagenesis analysis3, and transcriptome-wide and proteome-wide association analyses revealed putative causal genes (such as SH3PXD2A and FURIN) and variants (such as at GRK5 and NOS3). Using a three-pronged approach4, we provide genetic evidence for putative drug effects, highlighting F11, KLKB1, PROC, GP1BA, LAMC2 and VCAM1 as possible targets, with drugs already under investigation for stroke for F11 and PROC. A polygenic score integrating cross-ancestry and ancestry-specific stroke GWASs with vascular-risk factor GWASs (integrative polygenic scores) strongly predicted ischaemic stroke in populations of European, East Asian and African ancestry5. Stroke genetic risk scores were predictive of ischaemic stroke independent of clinical risk factors in 52,600 clinical-trial participants with cardiometabolic disease. Our results provide insights to inform biology, reveal potential drug targets and derive genetic risk prediction tools across ancestries