The Huntington's Disease health-related Quality of Life questionnaire (HDQoL): a disease-specific measure of health-related quality of life

Hocaoglu MB, Gaffan EA, Ho AK. The Huntington's disease health-related quality of life questionnaire: a disease-specific measure of health-related quality of life. Huntington's disease (HD) is a genetic neurodegenerative disorder characterized by motor, cognitive and psychiatric disturbances, and yet there is no disease-specific patient-reported health-related quality of life outcome measure for patients. Our aim was to develop and validate such an instrument, i.e. the Huntington's Disease health-related Quality of Life questionnaire (HDQoL), to capture the true impact of living with this disease. Semi-structured interviews were conducted with the full spectrum of people living with HD, to form a pool of items, which were then examined in a larger sample prior to data-driven item reduction. We provide the statistical basis for the extraction of three different sets of scales from the HDQoL, and present validation and psychometric data on these scales using a sample of 152 participants living with HD. These new patient-derived scales provide promising patient-reported outcome measures for HD.

Health-related quality of life in Huntington’s Disease patients: a comparison of proxy assessment and patient self-rating using the disease-specific Huntington’s Disease health-related quality of life questionnaire (HDQoL)

Huntington’s disease (HD) is a fatal, neurodegenerative disease for which there is no known cure. Proxy evaluation is relevant for HD as its manifestation might limit the ability of persons to report their health-related quality of life (HrQoL). This study explored patient–proxy ratings of HrQoL of persons at different stages of HD, and examined factors that may affect proxy ratings. A total of 105 patient–proxy pairs completed the Huntington’s disease health-related quality of life questionnaire (HDQoL) and other established HrQoL measures (EQ-5D and SF-12v2). Proxy–patient agreement was assessed in terms of absolute level (mean ratings) and intraclass correlation. Proxies’ ratings were at a similar level to patients’ self-ratings on an overall Summary Score and on most of the six Specific Scales of the HDQoL. On the Specific Hopes and Worries Scale, proxies on average rated HrQoL as better than patients’ self-ratings, while on both the Specific Cognitive Scale and Specific Physical and Functional Scale proxies tended to rate HrQoL more poorly than patients themselves. The patient’s disease stage and mental wellbeing (SF-12 Mental Component scale) were the two factors that primarily affected proxy assessment. Proxy scores were strongly correlated with patients’ self-ratings of HrQoL, on the Summary Scale and all Specific Scales. The patient–proxy correlation was lower for patients at moderate stages of HD compared to patients at early and advanced stages. The proxy report version of the HDQoL is a useful complementary tool to self-assessment, and a promising alternative when individual patients with advanced HD are unable to self-report.

Prediction and functional analysis of native disorder in proteins from the Three Kingdoms of Life

An automatic method for recognizing natively disordered regions from amino acid sequence is described and benchmarked against predictors that were assessed at the latest critical assessment of techniques for protein structure prediction (CASP) experiment. The method attains a Wilcoxon score of 90.0, which represents a statistically significant improvement on the methods evaluated on the same targets at CASP. The classifier, DISOPRED2, was used to estimate the frequency of native disorder in several representative genomes from the three kingdoms of life. Putative, long (>30 residue) disordered segments are found to occur in 2.0% of archaean, 4.2% of eubacterial and 33.0% of eukaryotic proteins. The function of proteins with long predicted regions of disorder was investigated using the gene ontology annotations supplied with the Saccharomyces genome database. The analysis of the yeast proteome suggests that proteins containing disorder are often located in the cell nucleus and are involved in the regulation of transcription and cell signalling. The results also indicate that native disorder is associated with the molecular functions of kinase activity and nucleic acid binding.

Species 2000 & ITIS Catalogue of Life, 2013 Annual Checklist

This release of the Catalogue of Life contains contributions from 132 databases with information on 1,352,112 species, 114,069 infraspecific taxa and also includes 928,147 synonyms and 408,689 common names covering the following groups: Viruses • Viruses and Subviral agents from ICTV_MSL UPDATED! Bacteria and Archaea from BIOS Chromista • Chromistan fungi from Species Fungorum Protozoa • Major groups from ITIS Regional, • Ciliates from CilCat, • Polycystines from WoRMS Polycystina UPDATED!, • Protozoan fungi from Species Fungorum and Trichomycetes database • Slime moulds from Nomen.eumycetozoa.com Fungi • Various taxa in whole or in part from CABI Bioservices databases (Species Fungorum, Phyllachorales, Rhytismatales, Saccharomycetes and Zygomycetes databases) and from three other databases covering Xylariaceae, Glomeromycota, Trichomycetes, Dothideomycetes • Lichens from LIAS UPDATED! Plantae (Plants) • Mosses from MOST • Liverworts and hornworts from ELPT • Conifers from Conifer Database • Cycads and 6 flowering plant families from IOPI-GPC, and 99 families from WCSP • Plus individual flowering plants families from AnnonBase, Brassicaceae, ChenoBase, Droseraceae Database, EbenaBase, GCC UPDATED!, ILDIS UPDATED!, LecyPages, LHD, MELnet UPDATED!, RJB Geranium, Solanaceae Source, Umbellifers. Animalia (Animals) • Marine groups from URMO, ITIS Global, Hexacorals, ETI WBD (Euphausiacea), WoRMS: WoRMS Asteroidea UPDATED!, WoRMS Bochusacea UPDATED!, WoRMS Brachiopoda UPDATED!, WoRMS Brachypoda UPDATED!, WoRMS Brachyura UPDATED!, WoRMS Bryozoa UPDATED!, WoRMS Cestoda NEW!, WoRMS Chaetognatha UPDATED!, WoRMS Cumacea UPDATED!, WoRMS Echinoidea UPDATED!, WoRMS Gastrotricha NEW!, WoRMS Gnathostomulida NEW!, WoRMS Holothuroidea UPDATED!, WoRMS Hydrozoa UPDATED!, WoRMS Isopoda UPDATED!, WoRMS Leptostraca UPDATED!, WoRMS Monogenea NEW!, WoRMS Mystacocarida UPDATED!, WoRMS Myxozoa NEW!, WoRMS Nemertea UPDATED!, WoRMS Oligochaeta UPDATED!, WoRMS Ophiuroidea UPDATED!, WoRMS Phoronida UPDATED!, WoRMS Placozoa NEW!, WoRMS Polychaeta UPDATED!, WoRMS Polycystina UPDATED!, WoRMS Porifera UPDATED!, WoRMS Priapulida NEW!, WoRMS Proseriata and Kalyptorhynchia UPDATED!, WoRMS Remipedia UPDATED!, WoRMS Scaphopoda UPDATED!, WoRMS Tanaidacea UPDATED!, WoRMS Tantulocarida UPDATED!, WoRMS Thermosbaenacea UPDATED!, WoRMS Trematoda NEW!, WoRMS Xenoturbellida UPDATED! • Rotifers, mayflies, freshwater hairworms, planarians from FADA databases: FADA Rotifera UPDATED!, FADA Ephemeroptera NEW!, FADA Nematomorpha NEW! & FADA Turbellaria NEW! • Entoprocts, water bears from ITIS Global • Spiders, scorpions, ticks & mites from SpidCat via ITIS UPDATED!, SalticidDB , ITIS Global, TicksBase, SpmWeb BdelloideaBase UPDATED! & Mites GSDs: OlogamasidBase, PhytoseiidBase, RhodacaridBase & TenuipalpidBase • Diplopods, centipedes, pauropods and symphylans from SysMyr UPDATED! & ChiloBase • Dragonflies and damselflies from Odonata database • Stoneflies from PlecopteraSF UPDATED! • Cockroaches from BlattodeaSF UPDATED! • Praying mantids from MantodeaSF UPDATED! • Stick and leaf insects from PhasmidaSF UPDATED! • Grasshoppers, locusts, katydids and crickets from OrthopteraSF UPDATED! • Webspinners from EmbiopteraSF UPDATED! • Bark & parasitic lices from PsocodeaSF NEW! • Some groups of true bugs from ScaleNet, FLOW, COOL, Psyllist, AphidSF UPDATED! , MBB, 3i Cicadellinae, 3i Typhlocybinae, MOWD & CoreoideaSF NEW!• Twisted-wing parasites from Strepsiptera Database UPDATED! • Lacewings, antlions, owlflies, fishflies, dobsonflies & snakeflies from LDL Neuropterida • Some beetle groups from the Scarabs UPDATED!, TITAN, WTaxa & ITIS Global • Fleas from Parhost • Flies, mosquitoes, bots, midges and gnats from Systema Dipterorum, CCW & CIPA • Butterflies and moths from LepIndex UPDATED!, GloBIS (GART) UPDATED!, Tineidae NHM, World Gracillariidae • Bees & wasps from ITIS Bees, Taxapad Ichneumonoidea, UCD, ZOBODAT Vespoidea & HymIS Rhopalosomatidae NEW!• Molluscs from WoRMS Mollusca NEW!, FADA Bivalvia NEW!, MolluscaFW NEW! & AFD (Pulmonata) • Fishes from FishBase UPDATED! • Reptiles from TIGR Reptiles • Amphibians, birds and mammals from ITIS Global PLUS additional species of many groups from ITIS Regional, NZIB and CoL China NEW!

Species 2000 & ITIS Catalogue of Life, 2012 Annual Checklist

The Species 2000 & ITIS Catalogue of Life is planned to become a comprehensive catalogue of all known species of organisms on Earth. Rapid progress has been made recently and this, the twelfth edition of the Annual Checklist, contains 1,404,038 species. Please note that this is probably just slightly over 2/3 of the world's known species. This means that for many groups it continues to be deficient, and users will notice that many species are still missing from the Catalogue. The present Catalogue is compiled with sectors provided by 115 taxonomic databases from around the world. Many of these contain taxonomic data and opinions from extensive networks of specialists, so that the complete work contains contributions from more than 3,000 specialists from throughout the taxonomic profession. Species 2000 and ITIS teams peer review databases, select appropriate sectors and integrate the sectors into a single coherent catalogue with a single hierarchical classification. It is planned to introduce alternative taxonomic treatments and alternative classifications, but an important feature is that for those users who wish to use it, a single preferred catalogue, based on peer reviews, will continue to be provided.

Species 2000 & ITIS Catalogue of Life, 2011 Annual Checklist

The Catalogue of Life: 2011 Annual Checklist contains contributions from 99 databases with information on 1,347,224 species and 92,306 infraspecific taxa, and also includes 895,441 synonyms and 366,401 common names

Evidence for interplay between genes and maternal stress in utero: monoamine oxidase A polymorphism moderates effects of life events during pregnancy on infant negative emotionality at 5 weeks

The low activity variant of the monoamine oxidase A (MAOA) functional promoter polymorphism, MAOA-LPR, in interaction with adverse environments (G × E) is associated with child and adult antisocial behaviour disorders. MAOA is expressed during foetal development so in utero G × E may influence early neurodevelopment. We tested the hypothesis that MAOA G × E during pregnancy predicts infant negative emotionality soon after birth. In an epidemiological longitudinal study starting in pregnancy, using a two stage stratified design, we ascertained MAOA-LPR status (low vs. high activity variants) from the saliva of 209 infants (104 boys and 105 girls), and examined predictions to observed infant negative emotionality at 5 weeks post-partum from life events during pregnancy. In analyses weighted to provide estimates for the general population, and including possible confounders for life events, there was an MAOA status by life events interaction (P = 0.017). There was also an interaction between MAOA status and neighbourhood deprivation (P = 0.028). Both interactions arose from a greater effect of increasing life events on negative emotionality in the MAOA-LPR low activity, compared with MAOA-LPR high activity infants. The study provides the first evidence of moderation by MAOA-LPR of the effect of the social environment in pregnancy on negative emotionality in infancy, an early risk for the development of child and adult antisocial behaviour disorders.

Evidence for interplay between genes and parenting on infant temperament in the first year of life: monoamine oxidase A polymorphism moderates effects of maternal sensitivity on infant anger proneness

Background The low expression polymorphism of the MAOA gene in interaction with adverse environments (G × E) is associated with antisocial behaviour disorders. These have their origins in early life, but it is not known whether MAOA G × E occurs in infants. We therefore examined whether MAOA G × E predicts infant anger proneness, a temperamental dimension associated with later antisocial behaviour disorders. In contrast to previous studies, we examined MAOA G × E prospectively using an observational measure of a key aspect of the infant environment, maternal sensitivity, at a specified developmental time point. Methods In a stratified epidemiological cohort recruited during pregnancy, we ascertained MAOA status (low vs. high expression alleles) from the saliva of 193 infants, and examined specific predictions to maternal report of infant temperament at 14 months from maternal sensitivity assessed at 29 weeks of age. Results Analyses, weighted to provide general population estimates, indicated a robust interaction between MAOA status and maternal sensitivity in the prediction of infant anger proneness (p = .003) which became stronger once possible confounders for maternal sensitivity were included in the model (p = .0001). The interaction terms were similar in males (p = .010) and females (p = .016), but the effects were different as a consequence of an additional sex of infant by maternal sensitivity interaction. Conclusions This prospective study provides the first evidence of moderation by the MAOA gene of effects of parenting on infant anger proneness, an important early risk for the development of disruptive and aggressive behaviour disorders.

How students view the boundaries between their science and religious education concerning the origins of life and the universe

Internationally in secondary schools, lessons are typically taught by subject specialists, raising the question of how to accommodate teaching which bridges the sciences and humanities. This is the first study to look at how students make sense of the teaching they receive in two subjects (science and religious education) when one subject’s curriculum explicitly refers to cross-disciplinary study and the other does not. Interviews with 61 students in seven schools in England suggested that students perceive a permeable boundary between science and their learning in science lessons and also a permeable boundary between religion and their learning in RE lessons, yet perceive a firm boundary between science lessons and RE lessons. We concluded that it is unreasonable to expect students to transfer instruction about cross-disciplinary perspectives across such impermeable subject boundaries. Finally we consider the implications of these findings for the successful management of cross-disciplinary education.

The role of life history traits in mammalian invasion success

Why some organisms become invasive when introduced into novel regions while others fail to even establish is a fundamental question in ecology. Barriers to success are expected to filter species at each stage along the invasion pathway. No study to date, however, has investigated how species traits associate with success from introduction to spread at a large spatial scale in any group. Using the largest data set of mammalian introductions at the global scale and recently developed phylogenetic comparative methods, we show that human-mediated introductions considerably bias which species have the opportunity to become invasive, as highly productive mammals with longer reproductive lifespans are far more likely to be introduced. Subsequently, greater reproductive output and higher introduction effort are associated with success at both the establishment and spread stages. High productivity thus supports population growth and invasion success, with barriers at each invasion stage filtering species with progressively greater fecundity.