Spotlights on Contemporary Family Life

Spotlights on Contemporary Family Life covers four issues of cross-cutting importance to families Structures and forms of families: issues relating to a diversification of families away from the ‘traditional nuclear family form’ are relatively uncontroversial from an academic perspective, but much more so for policy makers and family associations. Chapter 1 provides a thorough overview of the state of contemporary European families. Solidarities in families: too often the issue of an ‘ageing society’ is simply reduced to the problem of over-burdening social care systems, but longevity also represents opportunities for new kinds of solidarities inside families and family networks, and new relations between family members – not to mention the satisfaction felt by people who can continue to live fulfilling and rewarding lives long after they’re considered ‘elderly’. Chapter 2 gives voice to authors who identify these new opportunities and challenges. Demographic change: women are having fewer children and having them later in life. Having children is now a conscious decision and fertility rates have declined below the level required to sustain our current populations. At the same time we witness the ‘greying’ of Europe, which brings with it a whole host of opportunities and challenges. Chapter 3 raises important issues for policy makers today. Volunteering: inspired by family associations who could not survive without the support of volunteers, this chapter gives an overview of what’s known - and what isn’t - about volunteering. Coinciding with the European Year of Volunteering 2011, this chapter takes a timely look at the efforts that families put into volunteering across Europe and the important benefits that Europe gains from all of this combined voluntary effort. Linden Farrer and William Lay work for the Confederation of Family Organisations in the European Union (COFACE). This publication was produced by FAMILYPLATFORM, a project funded by the European Commission

Spotlights on Contemporary Family Life

Spotlights on Contemporary Family Life covers four issues of cross-cutting importance to families Structures and forms of families: issues relating to a diversification of families away from the ‘traditional nuclear family form’ are relatively uncontroversial from an academic perspective, but much more so for policy makers and family associations. Chapter 1 provides a thorough overview of the state of contemporary European families. Solidarities in families: too often the issue of an ‘ageing society’ is simply reduced to the problem of over-burdening social care systems, but longevity also represents opportunities for new kinds of solidarities inside families and family networks, and new relations between family members – not to mention the satisfaction felt by people who can continue to live fulfilling and rewarding lives long after they’re considered ‘elderly’. Chapter 2 gives voice to authors who identify these new opportunities and challenges. Demographic change: women are having fewer children and having them later in life. Having children is now a conscious decision and fertility rates have declined below the level required to sustain our current populations. At the same time we witness the ‘greying’ of Europe, which brings with it a whole host of opportunities and challenges. Chapter 3 raises important issues for policy makers today. Volunteering: inspired by family associations who could not survive without the support of volunteers, this chapter gives an overview of what’s known - and what isn’t - about volunteering. Coinciding with the European Year of Volunteering 2011, this chapter takes a timely look at the efforts that families put into volunteering across Europe and the important benefits that Europe gains from all of this combined voluntary effort. Linden Farrer and William Lay work for the Confederation of Family Organisations in the European Union (COFACE). This publication was produced by FAMILYPLATFORM, a project funded by the European Commission

Search for dark matter produced in association with bottom or top quarks in √s = 13 TeV pp collisions with the ATLAS detector

A search for weakly interacting massive particle dark matter produced in association with bottom or top quarks is presented. Final states containing third-generation quarks and miss- ing transverse momentum are considered. The analysis uses 36.1 fb−1 of proton–proton collision data recorded by the ATLAS experiment at √s = 13 TeV in 2015 and 2016. No significant excess of events above the estimated backgrounds is observed. The results are in- terpreted in the framework of simplified models of spin-0 dark-matter mediators. For colour- neutral spin-0 mediators produced in association with top quarks and decaying into a pair of dark-matter particles, mediator masses below 50 GeV are excluded assuming a dark-matter candidate mass of 1 GeV and unitary couplings. For scalar and pseudoscalar mediators produced in association with bottom quarks, the search sets limits on the production cross- section of 300 times the predicted rate for mediators with masses between 10 and 50 GeV and assuming a dark-matter mass of 1 GeV and unitary coupling. Constraints on colour- charged scalar simplified models are also presented. Assuming a dark-matter particle mass of 35 GeV, mediator particles with mass below 1.1 TeV are excluded for couplings yielding a dark-matter relic density consistent with measurements

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation

A review of methods for honey sensory analysis

Sensory analysis of honey may be used as a complement to physico-chemical and pollen analyses. It is used to confirm quality, verify the absence of defects, evaluate the conformity to established sensory profiles of unifloral honeys and also to understand consumer preferences. This paper will present a guide to sensory analysis methods for assessing the organoleptic properties of honey and the general procedures required to evaluate them. The standards for honey sensory analysis were developed in reference to specific scientific articles or ISO standards. General requirements for tasting procedures are defined by controlled experimental protocols regarding the design of test booths and best prac- tice for storage, preparation and presentation of honey samples. The assessors should be selected and trained for each method. They must follow the tasting procedures and rules when evaluating and reporting the visual, olfactory, olfac- tory-gustatory and tactile characteristics of honey (including their intensity) and confirm the absence of defects. Two methods for descriptive analysis are reported: the semi-quantitative method which uses detailed descriptors for visual, odor and flavor, and the profile method which employs twelve descriptors related to the botanical origin and whose intensity is scored using a horizontal line scale of 10 cm. Assessment of conformity evaluates a honey\u2019s conformity to the botanical origin and the absence of defects. Also the profile method may be used to evaluate the conformity of uni- floral honey to established sensory standards and to measure the intensity of the attributes

Genotype-phenotype correlations in patients with de novo pathogenic variants.

Early identification of de novo variants in patients with epilepsy raises prognostic issues toward optimal management. We analyzed the clinical and genetic information from a cohort of patients with de novo pathogenic variants to dissect genotype-phenotype correlations. Patients with de novo pathogenic variants were identified from Italy, Denmark, and Belgium. Atomic resolution Kv7.2 structures were also generated using homology modeling to map the variants. We included 34 patients with a mean age of 4.7 years. Median seizure onset was 2 days, mainly with focal seizures with autonomic signs. Twenty-two patients (65%) were seizure free at the mean age of 1.2 years. More than half of the patients (17/32) displayed severe/profound intellectual disability; however, 4 (13%) of them had a normal cognitive outcome.A total of 28 de novo pathogenic variants were identified, most missense (25/28), and clustered in conserved regions of the protein; 6 variants recurred, and 7 were novel. We did not identify a relationship between variant position and seizure offset or cognitive outcome in patients harboring missense variants. Besides, recurrent variants were associated with overlapping epilepsy features but also variable evolution regarding the intellectual outcome. We highlight the complexity of variant interpretation to assess the impact of a class of de novo mutations. Genetic modifiers could be implicated, but the study paradigms to successfully address the impact of each single mutation need to be developed