Population genomics of the critically endangered kākāpō

Summary The kākāpō is a flightless parrot endemic to New Zealand. Once common in the archipelago, only 201 individuals remain today, most of them descending from an isolated island population. We report the first genome-wide analyses of the species, including a high-quality genome assembly for kākāpō, one of the first chromosome-level reference genomes sequenced by the Vertebrate Genomes Project (VGP). We also sequenced and analyzed 35 modern genomes from the sole surviving island population and 14 genomes from the extinct mainland population. While theory suggests that such a small population is likely to have accumulated deleterious mutations through genetic drift, our analyses on the impact of the long-term small population size in kākāpō indicate that present-day island kākāpō have a reduced number of harmful mutations compared to mainland individuals. We hypothesize that this reduced mutational load is due to the island population having been subjected to a combination of genetic drift and purging of deleterious mutations, through increased inbreeding and purifying selection, since its isolation from the mainland ∼10,000 years ago. Our results provide evidence that small populations can survive even when isolated for hundreds of generations. This work provides key insights into kākāpō breeding and recovery and more generally into the application of genetic tools in conservation efforts for endangered species

A scoping study of interventions to increase the uptake of physical activity (PA) amongst individuals with mild-to-moderate depression (MMD)

Background - Depression is the largest contributor to disease burden globally. The evidence favouring physical activity as a treatment for mild-to-moderate depression is extensive and relatively uncontested. It is unclear, however, how to increase an uptake of physical activity amongst individuals experiencing mild-to-moderate depression. This leaves professionals with no guidance on how to help people experiencing mild-to-moderate depression to take up physical activity. The purpose of this study was to scope the evidence on interventions to increase the uptake of physical activity amongst individuals experiencing mild-to-moderate depression, and to develop a model of the mechanisms by which they are hypothesised to work. Methods - A scoping study was designed to include a review of primary studies, grey literature and six consultation exercises; two with individuals with experience of depression, two pre-project consultations with physical activity, mental health and literature review experts, one with public health experts, and one with community engagement experts. Results - Ten papers met the inclusion criteria and were included in the review. Consultation exercises provided insights into the mechanisms of an uptake of physical activity amongst individuals experiencing mild-to-moderate depression; evidence concerning those mechanisms is (a) fragmented in terms of design and purpose; (b) of varied quality; (c) rarely explicit about the mechanisms through which the interventions are thought to work. Physical, environmental and social factors that may represent mediating variables in the uptake of physical activity amongst people experiencing mild-to-moderate depression are largely absent from studies. Conclusions - An explanatory model was developed. This represents mild-to-moderate depression as interfering with (a) the motivation to take part in physical activity and (b) the volition that it is required to take part in physical activity. Therefore, both motivational and volitional elements are important in any intervention to increase physical activity in people with mild-to-moderate depression. Furthermore, mild-to-moderate depression-specific factors need to be tackled in any physical activity initiative, via psychological treatments such as Cognitive Behavioural Therapy. We argu

The Physics of the B Factories

This work is on the Physics of the B Factories. Part A of this book contains a brief description of the SLAC and KEK B Factories as well as their detectors, BaBar and Belle, and data taking related issues. Part B discusses tools and methods used by the experiments in order to obtain results. The results themselves can be found in Part C

The Adult Repetitive Behaviours Questionnaire-2 (RBQ-2A): A Self-Report Measure of Restricted and Repetitive Behaviours

In two studies we developed and tested a new self-report measure of restricted and repetitive behaviours (RRB) suitable for adults. In Study 1, The Repetitive Behaviours Questionnaire-2 for adults (RBQ-2A) was completed by a sample of 163 neurotypical adults. Principal components analysis revealed two components: Repetitive Motor Behaviours and Insistence on Sameness. In Study 2, the mean RBQ-2A scores of a group of adults with autism spectrum disorder (ASD; N = 29) were compared to an adult neurotypical group (N = 37). The ASD sample had significantly higher total and subscale scores. These results indicate that the RBQ-2A has utility as a self-report questionnaire measure of RRBs suitable for adults, with potential clinical application

The Alberta Congenital Anomalies Surveillance System: a 40-year review with prevalence and trends for selected congenital anomalies, 1997–2019

IntroductionCurrent published long-term provincial or territorial congenital anomaly data are lacking for Canada. We report on prevalence (per 1000 total births) and trends in 1997–2019, in Alberta, Canada, for selected congenital anomalies. Associated risk factors are also discussed. MethodsWe used data from the Alberta Congenital Anomalies Surveillance System (ACASS) to calculate the prevalence and perform chi-square linear trend analyses. ResultsFrom 1997 to 2019, the overall prevalence of neural tube defects was stable, at 0.74 per 1000 total births. The same was true for spina bifida (0.38), orofacial clefts (1.99), more severe CHDs (transposition of the great arteries, 0.38; tetralogy of Fallot, 0.33; and hypoplastic left heart syndrome, 0.32); and gastroschisis (0.38). Anencephaly, cleft palate and anorectal malformation significantly decreased with a prevalence of 0.23, 0.75 and 0.54 per 1000 total births, respectively. Significantly increasing trends were reported for anotia/microtia (0.24), limb reduction anomalies (0.73), omphalocele (0.36) and Down syndrome (2.21) and for hypospadias and undescended testes (4.68 and 5.29, respectively, per 1000 male births). ConclusionCongenital anomalies are an important public health concern with significant social and societal costs. Surveillance data gathered by ACASS for over 40 years can be used for planning and policy decisions and the evaluation of prevention strategies. Contributing genetic and environmental factors are discussed as is the need for continued surveillance and research

Le système de surveillance des anomalies congénitales de l’Alberta : compte rendu des données sur 40 ans avec prévalence et tendances de certaines anomalies congénitales entre 1997 et 2019

IntroductionOn manque de données provinciales ou territoriales à long terme publiées et actuelles sur les anomalies congénitales Au Canada. Cette étude fait état de la prévalence (pour 1000 naissances totales) et des tendances pour diverses anomalies congénitales de 1997 à 2019 en Alberta (Canada). Les facteurs de risque associés sont également abordés. MethodsNous avons utilisé les données du Système de surveillance des anomalies congénitales de l’Alberta (ACASS) pour calculer la prévalence et effectuer des analyses de tendance linéaire par test du chi carré. ResultsEntre 1997 et 2019, la prévalence globale des anomalies du tube neural est demeurée stable, à 0,74 pour 1000 naissances totales. C’était également le cas pour le spina bifida (0,38), les fentes orofaciales (1,99), les cardiopathies congénitales graves (transposition des grandes artères, 0,38; tétralogie de Fallot, 0,33; hypoplasie du coeur gauche, 0,32) et le gastroschisis (0,38). L’anencéphalie, la fente palatine et les anomalies anorectales ont diminué significativement, avec une prévalence de respectivement 0,23, 0,75 et 0,54 pour 1000 naissances totales. Une tendance significativement à la hausse a été relevée pour l’anotie/microtie (0,24), les anomalies de raccourcissement des membres (0,73), l’omphalocèle (0,36) et le syndrome de Down (2,21), ainsi que pour l’hypospadias et la cryptorchidie (respectivement 4,68 et 5,29 pour 1 000 naissances masculines). ConclusionLes anomalies congénitales constituent un important problème de santé publique, qui est associé à des coûts sociaux et sociétaux substantiels. Les données de surveillance recueillies par l’ACASS sur plus de 40 ans peuvent servir à la planification et aux décisions en matière de politiques ainsi qu’à l’évaluation des stratégies de prévention. Les facteurs génétiques et environnementaux contributifs sont abordés, de même que la nécessité de poursuivre la surveillance et la recherche

Extending the Comfort Zone: Building Resilience in Older People With Long-Term Conditions

This article examines how a 6-week mental health resilience course for people with long-term conditions (LTCs; diabetes, heart disease, and arthritis) increased perceived resilience of older participants. This article examines how peer support assisted participants to develop resilience, considers gender issues, examines the importance of course activities, and explores how resilience enhances quality of life. A mixed methods approach was used. A before-and-after questionnaire was administered 3 times, including 3-month follow-up. Interviews were held with 24 program participants, aged 45 to 80 years. Diaries were kept by participants over 3 months. Survey findings showed significant gains in perceived resilience, at the end of the course, with no significant drop-off after 3 months. Interview and diary narratives highlighted positive experiences around well-being, condition management, and social engagement. Peer support was key to effective processes. Challenges concern ongoing support in communities, and considering age and gender variables when researching what improved resilience means to older people with LTCs