Nature-based social prescribing programmes: opportunities, challenges, and facilitators for implementation.

BACKGROUND: Evidence on the health benefits of spending time in nature has highlighted the importance of provision of blue and green spaces where people live. The potential for health benefits offered by nature exposure, however, extends beyond health promotion to health treatment. Social prescribing links people with health or social care needs to community-based, non-clinical health and social care interventions to improve health and wellbeing. Nature-based social prescribing (NBSP) is a variant that uses the health-promoting benefits of activities carried out in natural environments, such as gardening and walking. Much current NBSP practice has been developed in the UK, and there is increasing global interest in its implementation. This requires interventions to be adapted for different contexts, considering the needs of populations and the structure of healthcare systems. METHODS: This paper presents results from an expert group participatory workshop involving 29 practitioners, researchers, and policymakers from the UK and Germany's health and environmental sectors. Using the UK and Germany, two countries with different healthcare systems and in different developmental stages of NBSP practice, as case studies, we analysed opportunities, challenges, and facilitators for the development and implementation of NBSP. RESULTS: We identified five overarching themes for developing, implementing, and evaluating NBSP: Capacity Building; Accessibility and Acceptability; Networks and Collaborations; Standardised Implementation and Evaluation; and Sustainability. We also discuss key strengths, weaknesses, opportunities, and threats for each overarching theme to understand how they could be developed to support NBSP implementation. CONCLUSIONS: NBSP could offer significant public health benefits using available blue and green spaces. We offer guidance on how NBSP implementation, from wider policy support to the design and evaluation of individual programmes, could be adapted to different contexts. This research could help inform the development and evaluation of NBSP programmes to support planetary health from local and global scales.

Advancing Inclusive Biodiversity Research: Strategies for Equitable Practices and Collective Impact / Promovendo a Pesquisa Inclusiva em Biodiversidade: Estratégias para Práticas Equitativas e Impacto Coletivo

Biodiversity research is essential for addressing the global biodiversity crisis, necessitating diverse participation and perspectives. However, the field currently faces a significant inclusivity problem as local expertise from biodiversity-rich but economically disadvantaged regions is often underrepresented. The underrepresentation of local experts is driven by four main challenges: linguistic bias, undervalued contributions, parachute science practices, and capacity constraints. While fragmented solutions exist, a unified multi-stakeholder approach is necessary to address these interconnected and systemic issues. Here, we introduce a holistic framework of collective responsibility, integrating tailored strategies that embrace diversity and dismantle systemic barriers for equitable collaboration. This framework delineates the diverse actors and practices required for promoting inclusivity in biodiversity research, assigning clear responsibilities to researchers, publishers, institutions, and funding bodies. Strategies for researchers include cultivating self-awareness, expanding literature searches, fostering partnerships with local experts, and promoting knowledge exchange. For institutions, we recommend establishing specialized liaison roles, implementing equitable policies, allocating resources for diversity initiatives, and enhancing support for international researchers. Publishers can facilitate multilingual dissemination, remove financial barriers, establish inclusivity standards, and ensure equitable representation in peer review. Funders should remove systemic barriers, strengthen research networks, and prioritize equitable resource allocation. Implementing these stakeholder-specific strategies can help dismantle deep-rooted biases and structural inequities in biodiversity research, catalyzing a shift towards a more inclusive and representative model that amplifies diverse perspectives and maximizes collective knowledge for effective global conservation.

A pesquisa em biodiversidade é essencial para enfrentar a crise global de biodiversidade, exigindo perspectivas diversificadas. No entanto, este campo do conhecimento enfrenta um significativo problema de inclusão, uma vez que os conhecimentos ecológicos produzidos em áreas ricas em biodiversidade, mas economicamente desfavorecidas, são frequentemente sub-representados. Esta sub-representação é impulsionada por quatro desafios principais: viés linguístico, contribuições científicas subvalorizadas, colaborações baseadas em práticas colonialistas (parachute science) e lacunas na capacitação e no acesso a dados. Embora soluções fragmentadas existam, uma abordagem multilateral unificada é necessária para abordar estas questões sistêmicas. Aqui, introduzimos uma abordagem holística de responsabilidade coletiva, integrando estratégias personalizadas que abraçam a diversidade e desmantelam barreiras sistêmicas para uma colaboração equitativa. Esta abordagem delineia os diversos atores e práticas necessárias para promover a inclusão na pesquisa sobre biodiversidade, atribuindo responsabilidades claras a pesquisadores, editoras, instituições e órgãos de fomento. As estratégias para os investigadores incluem o cultivo da autoconsciência, a expansão das pesquisas bibliográficas, o fomento de parcerias com especialistas locais e a promoção do intercâmbio de conhecimentos. Para as instituições, recomendamos o estabelecimento de funções de intermediação especializadas, a implementação de políticas equitativas, a alocação de recursos para iniciativas de diversidade e o reforço do apoio a pesquisadores internacionais. As editoras podem facilitar a divulgação multilíngue, eliminar barreiras financeiras, estabelecer normas de inclusão e assegurar uma representação equitativa na avaliação pelos pares. Os financiadores devem eliminar barreiras sistêmicas, fortalecer redes de pesquisa e dar prioridade à distribuição equitativa de recursos. A implementação dessas estratégias específicas para as partes interessadas pode ajudar a desmantelar vieses profundamente enraizados e desigualdades estruturais na pesquisa de biodiversidade, catalisando uma mudança para um modelo mais inclusivo e representativo que amplifica perspectivas diversas e maximiza o conhecimento coletivo para uma eficaz conservação da biodiversidade global.

Advancing Inclusive Biodiversity Research: Strategies for Equitable Practices and Collective Impact / Promoción de la investigación inclusiva sobre la biodiversidad: estrategias para prácticas equitativas e impacto colectivo

Biodiversity research is essential for addressing the global biodiversity crisis, necessitating diverse participation and perspectives. However, the field currently faces a significant inclusivity problem as local expertise from biodiversity-rich but economically disadvantaged regions is often underrepresented. The underrepresentation of local experts is driven by four main challenges: linguistic bias, undervalued contributions, parachute science practices, and capacity constraints. While fragmented solutions exist, a unified multi-stakeholder approach is necessary to address these interconnected and systemic issues. Here, we introduce a holistic framework of collective responsibility, integrating tailored strategies that embrace diversity and dismantle systemic barriers for equitable collaboration. This framework delineates the diverse actors and practices required for promoting inclusivity in biodiversity research, assigning clear responsibilities to researchers, publishers, institutions, and funding bodies. Strategies for researchers include cultivating self-awareness, expanding literature searches, fostering partnerships with local experts, and promoting knowledge exchange. For institutions, we recommend establishing specialized liaison roles, implementing equitable policies, allocating resources for diversity initiatives, and enhancing support for international researchers. Publishers can facilitate multilingual dissemination, remove financial barriers, establish inclusivity standards, and ensure equitable representation in peer review. Funders should remove systemic barriers, strengthen research networks, and prioritize equitable resource allocation. Implementing these stakeholder-specific strategies can help dismantle deep-rooted biases and structural inequities in biodiversity research, catalyzing a shift towards a more inclusive and representative model that amplifies diverse perspectives and maximizes collective knowledge for effective global conservation.

La investigación sobre la biodiversidad es esencial para hacer frente a la crisis mundial de la biodiversidad, lo cual requiere una participación y perspectivas diversas. Sin embargo, el estudio de la biodiversidad se enfrenta actualmente a un importante problema de inclusión, ya que los conocimientos locales de regiones altamente biodiversas, aunque económicamente desfavorecidas, suelen tener menor representación. La escasa representación de los expertos locales se debe a cuatro retos principales: el sesgo lingüístico, la subestimación de contribuciones, las prácticas científicas de paracaídas y las limitaciones de capacidad. Si bien existen soluciones fragmentadas, es necesario un enfoque unificado de múltiples partes interesadas para abordar estos problemas interconectados y sistémicos. Aquí, presentamos un marco holístico de responsabilidad colectiva, integrando estrategias personalizadas que abrazan la diversidad y desmantelan las barreras sistémicas para una colaboración equitativa. Este marco delinea los diversos actores y prácticas necesarias para promover la inclusión en la investigación sobre biodiversidad, asignando responsabilidades claras a investigadores, editores, instituciones y organismos de financiación. Las estrategias para los investigadores incluyen cultivar la autoconciencia, la ampliación de las búsquedas bibliográficas, el fomento de asociaciones con expertos locales y la promoción del intercambio de conocimientos. En el caso de las instituciones, recomendamos establecer funciones de colaboración especializadas, implementar políticas equitativas, asignar recursos para iniciativas de diversidad y mejorar el apoyo a los investigadores internacionales. Los editores pueden facilitar la difusión multilingüe, eliminar las barreras financieras, establecer normas de inclusión y garantizar una representación equitativa en la revisión por pares. Los financiadores deben eliminar las barreras sistémicas, fortalecer las redes de investigación y priorizar la asignación equitativa de recursos. La implementación de estas estrategias específicas para las partes interesadas puede ayudar a desmantelar los sesgos profundamente arraigados y las desigualdades estructurales en la investigación sobre biodiversidad, catalizando un cambio hacia un modelo más inclusivo y representativo que amplifique las diversas perspectivas y maximice el conocimiento colectivo para una conservación global efectiva.

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.

Canonical splice site variants (CSSVs) are often presumed to cause loss-of-function (LoF) and are assigned very strong evidence of pathogenicity (according to American College of Medical Genetics/Association for Molecular Pathology criterion PVS1). The exact nature and predictability of splicing effects of unselected rare CSSVs in blood-expressed genes are poorly understood. We identified 168 rare CSSVs in blood-expressed genes in 112 individuals using genome sequencing, and studied their impact on splicing using RNA sequencing (RNA-seq). There was no evidence of a frameshift, nor of reduced expression consistent with nonsense-mediated decay, for 25.6% of CSSVs: 17.9% had wildtype splicing only and normal junction depths, 3.6% resulted in cryptic splice site usage and in-frame insertions or deletions, 3.6% resulted in full exon skipping (in frame), and 0.6% resulted in full intron inclusion (in frame). Blind to these RNA-seq data, we attempted to predict the precise impact of CSSVs by applying in silico tools and the ClinGen Sequence Variant Interpretation Working Group 2018 guidelines for applying PVS1 criterion. The predicted impact on splicing using (1) SpliceAI, (2) MaxEntScan, and (3) AutoPVS1, an automatic classification tool for PVS1 interpretation of null variants that utilizes Ensembl Variant Effect Predictor and MaxEntScan, was concordant with RNA-seq analyses for 65%, 63%, and 61% of CSSVs, respectively. In summary, approximately one in four rare CSSVs did not show evidence for LoF based on analysis of RNA-seq data. Predictions from in silico methods were often discordant with findings from RNA-seq. More caution may be warranted in applying PVS1-level evidence to CSSVs in the absence of functional data.

Academic publishing requires linguistically inclusive policies.

Scientific knowledge is produced in multiple languages but is predominantly published in English. This practice creates a language barrier to generate and transfer scientific knowledge between communities with diverse linguistic backgrounds, hindering the ability of scholars and communities to address global challenges and achieve diversity and equity in science, technology, engineering and mathematics (STEM). To overcome those barriers, publishers and journals should provide a fair system that supports non-native English speakers and disseminates knowledge across the globe. We surveyed policies of 736 journals in biological sciences to assess their linguistic inclusivity, identify predictors of inclusivity, and propose actions to overcome language barriers in academic publishing. Our assessment revealed a grim landscape where most journals were making minimal efforts to overcome language barriers. The impact factor of journals was negatively associated with adopting a number of inclusive policies whereas ownership by a scientific society tended to have a positive association. Contrary to our expectations, the proportion of both open access articles and editors based in non-English speaking countries did not have a major positive association with the adoption of linguistically inclusive policies. We proposed a set of actions to overcome language barriers in academic publishing, including the renegotiation of power dynamics between publishers and editorial boards.

De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III).

Setleis syndrome (SS), or focal facial dermal dysplasia type III (FFDD3, MIM #227260), is an autosomal recessive condition caused by biallelic loss-of-function variants in TWIST2. It is characterized by bitemporal atrophic skin lesions and distinctive facial features. Individuals with de novo or inherited duplication or triplication of the chromosomal region 1p36.22p36.21 have also been reported to have the SS phenotype with additional neurodevelopmental challenges (rarely seen in individuals with TWIST2 mutations) and variable expressivity and penetrance. Triplication of this region is also associated with more severe manifestations compared to a duplication. We report a 2-year-old female patient with features of SS associated with a de novo 3.603 Mb triplication at 1p36.23p36.22 identified on postnatal microarray analysis. Her triplication shares a 281.263 kb overlap with gains at 1p36.22, reported by previous groups, delineating the shortest region of overlap (SRO) to date. This SRO involves 10 RefSeq and 4 OMIM morbid map genes and highlights the candidate dosage-sensitive element(s) underlying the cardinal features of SS phenotype in individuals with gains at 1p36.

A comprehensive database of amphibian heat tolerance.

Rising temperatures represent a significant threat to the survival of ectothermic animals. As such, upper thermal limits represent an important trait to assess the vulnerability of ectotherms to changing temperatures. For instance, one may use upper thermal limits to estimate current and future thermal safety margins (i.e., the proximity of upper thermal limits to experienced temperatures), use this trait together with other physiological traits in species distribution models, or investigate the plasticity and evolvability of these limits for buffering the impacts of changing temperatures. While datasets on thermal tolerance limits have been previously compiled, they sometimes report single estimates for a given species, do not present measures of data dispersion, and are biased towards certain parts of the globe. To overcome these limitations, we systematically searched the literature in seven languages to produce the most comprehensive dataset to date on amphibian upper thermal limits, spanning 3,095 estimates across 616 species. This resource will represent a useful tool to evaluate the vulnerability of amphibians, and ectotherms more generally, to changing temperatures.

Forest structure and composition alleviate human thermal stress.

Current climate change aggravates human health hazards posed by heat stress. Forests can locally mitigate this by acting as strong thermal buffers, yet potential mediation by forest ecological characteristics remains underexplored. We report over 14 months of hourly microclimate data from 131 forest plots across four European countries and compare these to open-field controls using physiologically equivalent temperature (PET) to reflect human thermal perception. Forests slightly tempered cold extremes, but the strongest buffering occurred under very hot conditions (PET >35°C), where forests reduced strong to extreme heat stress day occurrence by 84.1%. Mature forests cooled the microclimate by 12.1 to 14.5°C PET under, respectively, strong and extreme heat stress conditions. Even young plantations reduced those conditions by 10°C PET. Forest structure strongly modulated the buffering capacity, which was enhanced by increasing stand density, canopy height and canopy closure. Tree species composition had a more modest yet significant influence: that is, strongly shade-casting, small-leaved evergreen species amplified cooling. Tree diversity had little direct influences, though indirect effects through stand structure remain possible. Forests in general, both young and mature, are thus strong thermal stress reducers, but their cooling potential can be even further amplified, given targeted (urban) forest management that considers these new insights.

Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.

PURPOSE: RABGAP1 is a GTPase-activating protein implicated in a variety of cellular and molecular processes, including mitosis, cell migration, vesicular trafficking, and mTOR signaling. There are no known Mendelian diseases caused by variants in RABGAP1. METHODS: Through GeneMatcher, we identified 5 patients from 3 unrelated families with homozygous variants in the RABGAP1 gene found on exome sequencing. We established lymphoblastoid cells lines derived from an affected individual and her parents and performed RNA sequencing and functional studies. Rabgap1 knockout mice were generated and phenotyped. RESULTS: We report 5 patients presenting with a common constellation of features, including global developmental delay/intellectual disability, microcephaly, bilateral sensorineural hearing loss, and seizures, as well as overlapping dysmorphic features. Neuroimaging revealed common features, including delayed myelination, white matter volume loss, ventriculomegaly, and thinning of the corpus callosum. Functional analysis of patient cells revealed downregulated mTOR signaling and abnormal localization of early endosomes and lysosomes. Rabgap1 knockout mice exhibited several features in common with the patient cohort, including microcephaly, thinning of the corpus callosum, and ventriculomegaly. CONCLUSION: Collectively, our results provide evidence of a novel neurodevelopmental syndrome caused by biallelic loss-of-function variants in RABGAP1.

Changes in Scleral Thickness Following Repeated Anti-vascular Endothelial Growth Factor Injections.

Purpose: This cross-sectional study aimed to compare changes in scleral thickness between eyes injected with repeated anti-vascular endothelial growth factor (anti-VEGF) drugs and fellow injection naive eyes using optical coherence tomography (OCT). Methods: A total of 79 patients treated with three intravitreal anti-VEGF injections in one eye versus no injections in the fellow eye were included.Anterior segment-OCT measured scleral thickness in the inferotemporal quadrant 4 mm away from the limbus. Results: Injected eyes had a mean scleral thickness of 588 ± 95 µm versus 618 ± 85 µm in fellow naïve eyes (P < 0.001). Comparing injected eyes to fellow naïve eyes stratified by injection number showed a mean scleral thickness of 585 ± 93 µm versus 615 ± 83 µm in eyes with 3-10 injections (n = 32, P = 0.042); 606 ± 90 µm versus 636 ± 79 µm in eyes with 11-20 injections (n = 24, P = 0.017); and 573 ± 104 µm versus 604 ± 93 µm in eyes with > 20 injections (n = 23, P = 0.041). There was no significant correlation between injection number and scleral thickness change (r = -0.07, P = 0.26). When stratified by indication, subjects with retinal vein occlusions showed a statistically significant difference in scleral thickness between injected and fellow naïve eyes (535 ± 94 µm and 598 ± 101 µm, respectively, P = 0.001). Conclusion: Compared to injection naive eyes,multiple intravitreal injections at the repeated scleral quadrant results in scleral thinning. Consideration of multiple injection sites should be considered to avoid these changes.

People's desire to be in nature and how they experience it are partially heritable.

Nature experiences have been linked to mental and physical health. Despite the importance of understanding what determines individual variation in nature experience, the role of genes has been overlooked. Here, using a twin design (TwinsUK, number of individuals = 2,306), we investigate the genetic and environmental contributions to a person's nature orientation, opportunity (living in less urbanized areas), and different dimensions of nature experience (frequency and duration of public nature space visits and frequency and duration of garden visits). We estimate moderate heritability of nature orientation (46%) and nature experiences (48% for frequency of public nature space visits, 34% for frequency of garden visits, and 38% for duration of garden visits) and show their genetic components partially overlap. We also find that the environmental influences on nature experiences are moderated by the level of urbanization of the home district. Our study demonstrates genetic contributions to individuals' nature experiences, opening a new dimension for the study of human-nature interactions.

Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers-Danlos syndrome.

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders characterized by hyperextensible skin, hypermobile joints, easy bruisability, and fragility of the connective tissues. The diagnosis is based on clinical assessment and phenotype-guided genetic testing. Most EDS subtypes can be confirmed by genetic testing except for hypermobile EDS. This study explored the utility of applying the 2017 EDS classification criteria and molecular genetic testing in establishing an EDS diagnosis in children. In this retrospective study, we reviewed 72 patients referred to a tertiary care center for evaluation of EDS who underwent one or more forms of genetic testing. Eighteen patients (18/72, 25%) met the clinical criteria for one of the EDS subtypes and of these, 15 (15/18, 83%) were confirmed molecularly. Fifty-four patients (54/72, 75%) had features that overlapped EDS and other syndromes associated with joint hypermobility but did not fully meet clinical criteria. Twelve of them (12/54, 22%) were later shown to have a positive molecular genetic diagnosis of EDS. Different molecular genetic tests were performed on the cohort of 72 patients (EDS panel, n = 44; microarray, n = 25; whole exome sequencing [WES], n = 9; single gene sequencing, n = 3; familial variant testing, n = 10; other genetic panels n = 3). EDS panel was completed in 44 patients (61%), and a molecular diagnosis was confirmed in nine of the patients who satisfied criteria for one of the EDS subtypes (9/12, 75%) and in nine of the patients who did not fully meet criteria (9/32, 28%). We observed a correlation between generalized joint hypermobility, poor healing, easy bruising, atrophic scars, skin hyperextensibility, and developmental dysplasia of the hip with a positive molecular result. This study provides guidance for the use of molecular genetic testing in combination with the 2017 clinical diagnostic criteria in children presenting with EDS characteristics.

Environmental and public health co-benefits of consumer switches to immunity-supporting food.

During COVID-19, there has been a surge in public interest for information on immunity-boosting foods. There is little scientific support for immunity-supporting properties of specific foods, but strong evidence for food choice impacts on other health outcomes (e.g. risk of non-communicable disease) and environmental sustainability. Here, we relate online recommendations for "immunity-boosting" foods across five continents to their environmental and human health impacts. More frequently recommended food items and groups are plant based and have lower land use and greenhouse gas emission impacts plus more positive health outcomes (reducing relative risks of mortality or chronic diet-related diseases) per serving of food. We identify trade-offs between environmental outcomes of increasing consumption of recommended food items, with aquatic environment impacts increasing with food recommendation frequency. People's reliance on the Internet for health information creates an opportunity to consolidate behaviour change towards consuming foods with multiple co-benefits. Our study identifies win-win options for nudging online information-seeking behaviour towards more sustainable choices for terrestrial biodiversity conservation and human health.

Health and Wellbeing Benefits from Nature Experiences in Tropical Settings Depend on Strength of Connection to Nature.

A growing number of policies and programmes in cities aim to increase the time people spend in nature for the health and wellbeing benefits delivered by such interactions. Yet, there is little research investigating the extent to which, and for whom, nature experiences deliver such benefits outside Europe, North America, and Australia. Here, we assessed the relationships between nature dose (frequency, duration, and intensity) and three mental wellbeing (depression, stress, and anxiety) and two physical health (high blood pressure, diabetes) outcomes in Singapore, an intensely urbanised tropical city. Our analyses accounted for individual factors, including socio-economic status, nature connection (nature relatedness), and whether people with poor health are prevented by their condition from visiting green spaces. Our results show that the association between nature dose (specifically duration) and mental wellbeing is moderated by a nature connection. Specifically, people with a stronger nature connection were less likely to be depressed, stressed, and anxious, regardless of the duration of their nature dose. For those with a weaker connection to nature, spending longer in nature was associated with being more depressed, stressed, and anxious. We did not find a relationship between nature dose and high blood pressure or diabetes. Our results highlight that the relationship between nature dose and wellbeing might vary substantially among cities.

Tapping into non-English-language science for the conservation of global biodiversity.

The widely held assumption that any important scientific information would be available in English underlies the underuse of non-English-language science across disciplines. However, non-English-language science is expected to bring unique and valuable scientific information, especially in disciplines where the evidence is patchy, and for emergent issues where synthesising available evidence is an urgent challenge. Yet such contribution of non-English-language science to scientific communities and the application of science is rarely quantified. Here, we show that non-English-language studies provide crucial evidence for informing global biodiversity conservation. By screening 419,679 peer-reviewed papers in 16 languages, we identified 1,234 non-English-language studies providing evidence on the effectiveness of biodiversity conservation interventions, compared to 4,412 English-language studies identified with the same criteria. Relevant non-English-language studies are being published at an increasing rate in 6 out of the 12 languages where there were a sufficient number of relevant studies. Incorporating non-English-language studies can expand the geographical coverage (i.e., the number of 2° × 2° grid cells with relevant studies) of English-language evidence by 12% to 25%, especially in biodiverse regions, and taxonomic coverage (i.e., the number of species covered by the relevant studies) by 5% to 32%, although they do tend to be based on less robust study designs. Our results show that synthesising non-English-language studies is key to overcoming the widespread lack of local, context-dependent evidence and facilitating evidence-based conservation globally. We urge wider disciplines to rigorously reassess the untapped potential of non-English-language science in informing decisions to address other global challenges. Please see the Supporting information files for Alternative Language Abstracts.

The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.

Osteopathia striata with cranial sclerosis (OSCS; OMIM# 300373) is a rare X-linked disorder caused by mutations of the AMER1 gene. OSCS is traditionally considered a skeletal dysplasia, characterized by cranial sclerosis and longitudinal striations in the long bone metaphyses. However, OSCS affects many body systems and varies significantly in phenotypic severity between individuals. This case series focuses on the phenotypic presentation and development of individuals with OSCS. We provide an account of 12 patients with OSCS, ranging from 5 months to 38 years of age. These patients were diagnosed with OSCS after genetic testing confirmed pathogenic mutations in AMER1. Patient consent was obtained for photos and participation. Data were collected regarding perinatal history, dysmorphic features, and review of systems. This case series documents common facial dysmorphology, as well as rare extraskeletal features of OSCS, including two patients with intestinal malrotation and two patients with pyloric stenosis. We share four apparently nonmosaic males with OSCS (one de novo and three maternal variants). We also provide a clinical update on a patient who was previously published by Chénier et al. (2012). American Journal of Medical Genetics Part A, 158, 2946-2952. More research is needed to investigate the links between genotype and phenotype and assess the long-term comorbidities and overall quality of life of individuals with OSCS.

Urban green space use during a time of stress: A case study during the COVID-19 pandemic in Brisbane, Australia.

Spending time in nature is one potential way to cope with the negative physical and psychological health impacts from major stressful life events. In 2020, a large fraction of the global population was impacted by restrictions to contain the spread of the COVID-19 outbreak, a period characterised by marked health risks and behavioural changes. Here we explore whether people responded to this stressor by spending more time in nature and investigate the reasons for any changes.We surveyed 1,002 people in Brisbane, Australia in 2020, to measure the change in use of green space during the restrictions period and benefits people associated with visiting them.About 36% of participants increased their urban green space use, but 26% reduced it, indicating a great deal of flux. Furthermore, 45% of the previous non-users of urban green space began using it for the first time during the restrictions period. Older people were less likely to increase their green space use and those with a backyard were more likely to increase their use of green spaces.Participants' change in use occurred regardless of the amount of green space available in close proximity to their households. In addition, we did not find a relationship between nature-relatedness and change in use.People's reasons for green space use shifted during the pandemic-related restrictions period, with many emphasising improvement of personal well-being rather than consolidating community capital. Most participants indicated an increase in the importance of the psychological and physical benefits obtained from urban green spaces.We conclude that increased urban green space use during moments of stress such as the COVID-19 pandemic has the potential to ameliorate some of the negative effects of the stressor, but that the capacity and desire to spend more time in green space varies markedly across society. Sufficient urban green space provision for all sections of society will maximise the opportunity to employ a nature-based coping mechanism during times of personal or community stress.

Pasar tiempo en la naturaleza es una forma de contrarrestar el impacto físico y psicológico que tiene los eventos estresantes en nuestras vidas. En el 2020, una gran porción de la población mundial fue impactada por las restricciones impuestas por la propagación del COVID­19, un periodo que se caracterizó por notables riesgos para la salud y cambios en el comportamiento de las personas. Aquí exploramos si las personas respondieron a este evento estresante pasando más tiempo en la naturaleza y también investigamos las razones asociadas a cualquier cambio.Encuestamos a 1002 personas en Brisbane, Australia, en el 2020, para medir el cambio en el uso de los espacios verdes públicos durante la cuarentena ocasionada por la pandemia y los beneficios que la gente ha asociado a su visita.Alrededor del 36% de los encuestados aumentaron el uso de los espacios verdes públicos urbanos y el 26% lo redujo, lo que indica un cambio en la concepción del uso durante la pandemia. Esto se confirma ya que un 45% de los encuestados que no han usado espacios verdes públicos previo a la cuarentena, lo utilizaron por primera vez. Los adultos mayores fueron menos proclive a aumentar el uso de espacios verdes y los encuestados que poseían un patio en sus hogares, tendieron a un mayor uso de los espacios verdes.Independientemente a la cantidad disponible de espacios verdes públicos en la proximidad de los hogares de los participantes, se ha producido un cambio en las visitas a espacios verdes públicos. Además, no encontramos una relación entre la conexión con la naturaleza de los participantes y el cambio de uso de espacios verdes públicos.Durante la cuarentena, los participantes han cambiado las razones por las cuales utilizaron espacios verdes públicos urbanos. Muchos participantes hicieron hincapié en los beneficios al bienestar personal en lugar de aquellos beneficios comunitarios. Por ejemplo, la mayoría de los participantes indicaron un aumento de la importancia de los beneficios psicológicos y físicos obtenidos por el uso de espacios verdes públicos urbanos.Concluimos que, en momentos de estrés, como por ejemplo la pandemia COVID­19, un aumento en el uso de espacios verdes tiene el potencial de mejorar algunos de los efectos negativos del estrés, pero que el deseo y la habilidad de pasar más tiempo en los espacios verdes varía notablemente en la sociedad. Proveer suficientes espacios verdes públicos para todos los sectores de la sociedad, maximizaría la oportunidad de emplear un mecanismo para afrontar los estreses personales o comunitarios, basado en la naturaleza. A free Plain Language Summary can be found within the Supporting Information of this article.

NIAID ClinRegs-a Public Database of Country Clinical Research Regulatory and Ethics Requirements: Design and Utilization Analysis.

Regulatory compliance is challenging for multinational clinical trials. Conflicts between country requirements impedes research and slows the approval of medicines, leading the pharmaceutical industry to devote significant resources to this area. Many academic centers and nonprofits cannot support industry-level investment and are vulnerable to noncompliance. To address an insufficiency in public access to this information, the National Institute of Allergy and Infectious Diseases developed ClinRegs-a public access database of clinical research regulations. This report describes ClinRegs' features, maintenance, and usage. From September 2019 through August 2020, ClinRegs had 68 504 users, 60% from outside the United States, demonstrating the demand for accessible, reliable, country-specific regulatory information. Tools such as ClinRegs can help increase regulatory compliance and free up resources for research. We encourage our partner agencies and biomedical research industries to promote greater regulatory knowledge sharing and harmonization for the betterment of clinical research and improved public health.

Historic and modern genomes unveil a domestic introgression gradient in a wild red junglefowl population.

The red junglefowl Gallus gallus is the ancestor of the domestic chicken and arguably the most important bird species on Earth. Continual gene flow between domestic and wild populations has compromised its gene pool, especially since the last century when human encroachment and habitat loss would have led to increased contact opportunities. We present the first combined genomic and morphological admixture assessment of a native population of red junglefowl, sampled from recolonized parts of its former range in Singapore, partly using whole genomes resequenced from dozens of individuals. Crucially, this population was genomically anchored to museum samples from adjacent Peninsular Malaysia collected ~110-150 years ago to infer the magnitude of modern domestic introgression across individuals. We detected a strong feral-wild genomic continuum with varying levels of domestic introgression in different subpopulations across Singapore. Using a trait scoring scheme, we determined morphological thresholds that can be used by conservation managers to successfully identify individuals with low levels of domestic introgression, and selected traits that were particularly useful for predicting domesticity in genomic profiles. Our study underscores the utility of combined genomic and morphological approaches in population management and suggests a way forward to safeguard the allelic integrity of wild red junglefowl in perpetuity.

Fine-scale barriers to connectivity across a fragmented South-East Asian landscape in six songbird species.

Habitat fragmentation is a major extinction driver. Despite dramatically increasing fragmentation across the globe, its specific impacts on population connectivity across species with differing life histories remain difficult to characterize, let alone quantify. Here, we investigate patterns of population connectivity in six songbird species from Singapore, a highly fragmented tropical rainforest island. Using massive panels of genome-wide single nucleotide polymorphisms across dozens of samples per species, we examined population genetic diversity, inbreeding, gene flow and connectivity among species along a spectrum of ecological specificities. We found a higher resilience to habitat fragmentation in edge-tolerant and forest-canopy species as compared to forest-dependent understorey insectivores. The latter exhibited levels of genetic diversity up to three times lower in Singapore than in populations from contiguous forest elsewhere. Using dense genomic and geographic sampling, we identified individual barriers such as reservoirs that effectively minimize gene flow in sensitive understorey birds, revealing that terrestrial forest species may exhibit levels of sensitivity to fragmentation far greater than previously expected. This study provides a blueprint for conservation genomics at small scales with a view to identifying preferred locations for habitat corridors, flagging candidate populations for restocking with translocated individuals and improving the design of future reserves.