13 research outputs found

    The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management

    Get PDF
    Pathogenic germline exonuclease domain (ED) variants of POLE and POLD1 cause the Mendelian dominant condition polymerase proof-reading associated polyposis (PPAP). We aimed to describe the clinical features of all PPAP patients with probably pathogenic variants. We identified patients with a variants mapping to the EDs of POLE or POLD1 from cancer genetics clinics, a colorectal cancer (CRC) clinical trial, and systematic review of the literature. We used multiple evidence sources to separate ED variants into those with strong evidence of pathogenicity and those of uncertain importance. We performed quantitative analysis of the risk of CRC, colorectal adenomas, endometrial cancer or any cancer in the former group. 132 individuals carried a probably pathogenic ED variant (105 POLE, 27 POLD1). The earliest malignancy was colorectal cancer at 14. The most common tumour types were colorectal, followed by endometrial in POLD1 heterozygotes and duodenal in POLE heterozygotes. POLD1-mutant cases were at a significantly higher risk of endometrial cancer than POLE heterozygotes. Five individuals with a POLE pathogenic variant, but none with a POLD1 pathogenic variant, developed ovarian cancer. Nine patients with POLE pathogenic variants and one with a POLD1 pathogenic variant developed brain tumours. Our data provide important evidence for PPAP management. Colonoscopic surveillance is recommended from age 14 and upper-gastrointestinal surveillance from age 25. The management of other tumour risks remains uncertain, but surveillance should be considered. In the absence of strong genotype–phenotype associations, these recommendations should apply to all PPAP patients. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10689-021-00256-y

    Safeguarding human–wildlife cooperation

    Get PDF
    Human–wildlife cooperation occurs when humans and free-living wild animals actively coordinate their behavior to achieve a mutually beneficial outcome. These interactions provide important benefits to both the human and wildlife communities involved, have wider impacts on the local ecosystem, and represent a unique intersection of human and animal cultures. The remaining active forms are human–honeyguide and human–dolphin cooperation, but these are at risk of joining several inactive forms (including human–wolf and human–orca cooperation). Human–wildlife cooperation faces a unique set of conservation challenges, as it requires multiple components—a motivated human and wildlife partner, a suitable environment, and compatible interspecies knowledge—which face threats from ecological and cultural changes. To safeguard human–wildlife cooperation, we recommend: (i) establishing ethically sound conservation strategies together with the participating human communities; (ii) conserving opportunities for human and wildlife participation; (iii) protecting suitable environments; (iv) facilitating cultural transmission of traditional knowledge; (v) accessibly archiving Indigenous and scientific knowledge; and (vi) conducting long-term empirical studies to better understand these interactions and identify threats. Tailored safeguarding plans are therefore necessary to protect these diverse and irreplaceable interactions. Broadly, our review highlights that efforts to conserve biological and cultural diversity should carefully consider interactions between human and animal cultures. Please see AfricanHoneyguides.com/abstract-translations for Kiswahili and Portuguese translations of the abstract

    Safeguarding human–wildlife cooperation

    Get PDF
    Human–wildlife cooperation occurs when humans and free-living wild animals actively coordinate their behavior to achieve a mutually beneficial outcome. These interactions provide important benefits to both the human and wildlife communities involved, have wider impacts on the local ecosystem, and represent a unique intersection of human and animal cultures. The remaining active forms are human–honeyguide and human–dolphin cooperation, but these are at risk of joining several inactive forms (including human–wolf and human–orca cooperation). Human–wildlife cooperation faces a unique set of conservation challenges, as it requires multiple components—a motivated human and wildlife partner, a suitable environment, and compatible interspecies knowledge—which face threats from ecological and cultural changes. To safeguard human–wildlife cooperation, we recommend: (i) establishing ethically sound conservation strategies together with the participating human communities; (ii) conserving opportunities for human and wildlife participation; (iii) protecting suitable environments; (iv) facilitating cultural transmission of traditional knowledge; (v) accessibly archiving Indigenous and scientific knowledge; and (vi) conducting long-term empirical studies to better understand these interactions and identify threats. Tailored safeguarding plans are therefore necessary to protect these diverse and irreplaceable interactions. Broadly, our review highlights that efforts to conserve biological and cultural diversity should carefully consider interactions between human and animal cultures

    'No one knows like we do' - the narratives of mental health service users trained as researchers

    No full text
    In 2008, Mind in Bexley received a research development grant from the Big Lottery Fund and a training grant from Bexley Care Trust to empower service users to par ticipate and contribute to a pilot research project. The project aims were to work with, develop, train and suppor the service users as researchers, in order to record the narratives of service users who have common experiences of mental health distress and treatment. The research development project set up an advisory group, created and developed a partnership with the University of Kent and provided workshops and training sessions to explore some of the principles of research and ethics. In addition, the group under took a preliminary literature review, developed and refined a research questionnaire and piloted interviews with six service users. Many issues were raised and lessons learned during the planning and conduct of the project. This paper discusses the process and reflects on aspects of the project�s design and delivery. In addition, this paper highlights some of the difficulties in under taking service user research and suggests recommendations as to how to overcome some of these complex issues

    The ecology and evolution of human‐wildlife cooperation

    Get PDF
    Abstract: Human‐wildlife cooperation is a type of mutualism in which a human and a wild, free‐living animal actively coordinate their behaviour to achieve a common beneficial outcome. While other cooperative human‐animal interactions involving captive coercion or artificial selection (including domestication) have received extensive attention, we lack integrated insights into the ecology and evolution of human‐wildlife cooperative interactions. Here, we review and synthesise the function, mechanism, development, and evolution of human‐wildlife cooperation. Active cases involve people cooperating with greater honeyguide birds and with two dolphin species, while historical cases involve wolves and orcas. In all cases, a food source located by the animal is made available to both species by a tool‐using human, coordinated with cues or signals. The mechanisms mediating the animal behaviours involved are unclear, but they may resemble those underlying intraspecific cooperation and reduced neophobia. The skills required appear to develop at least partially by social learning in both humans and the animal partners. As a result, distinct behavioural variants have emerged in each type of human‐wildlife cooperative interaction in both species, and human‐wildlife cooperation is embedded within local human cultures. We propose multiple potential origins for these unique cooperative interactions, and highlight how shifts to other interaction types threaten their persistence. Finally, we identify key questions for future research. We advocate an approach that integrates ecological, evolutionary and anthropological perspectives to advance our understanding of human‐wildlife cooperation. In doing so, we will gain new insights into the diversity of our ancestral, current and future interactions with the natural world. Read the free Plain Language Summary for this article on the Journal blog

    Safeguarding human–wildlife cooperation

    Get PDF
    Abstract: Human–wildlife cooperation occurs when humans and free‐living wild animals actively coordinate their behavior to achieve a mutually beneficial outcome. These interactions provide important benefits to both the human and wildlife communities involved, have wider impacts on the local ecosystem, and represent a unique intersection of human and animal cultures. The remaining active forms are human–honeyguide and human–dolphin cooperation, but these are at risk of joining several inactive forms (including human–wolf and human–orca cooperation). Human–wildlife cooperation faces a unique set of conservation challenges, as it requires multiple components—a motivated human and wildlife partner, a suitable environment, and compatible interspecies knowledge—which face threats from ecological and cultural changes. To safeguard human–wildlife cooperation, we recommend: (i) establishing ethically sound conservation strategies together with the participating human communities; (ii) conserving opportunities for human and wildlife participation; (iii) protecting suitable environments; (iv) facilitating cultural transmission of traditional knowledge; (v) accessibly archiving Indigenous and scientific knowledge; and (vi) conducting long‐term empirical studies to better understand these interactions and identify threats. Tailored safeguarding plans are therefore necessary to protect these diverse and irreplaceable interactions. Broadly, our review highlights that efforts to conserve biological and cultural diversity should carefully consider interactions between human and animal cultures. Please see AfricanHoneyguides.com/abstract‐translations for Kiswahili and Portuguese translations of the abstract
    corecore