Aquatic noise pollution: implications for individuals, populations, and ecosystems

Anthropogenically driven environmental changes affect our planet at an unprecedented scale and are considered to be a key threat to biodiversity. According to the World Health Organization, anthropogenic noise is one of the most hazardous forms of anthropogenically driven environmental change and is recognized as a major global pollutant. However, crucial advances in the rapidly emerging research on noise pollution focus exclusively on single aspects of noise pollution, e.g. on behaviour, physiology, terrestrial ecosystems, or on certain taxa. Given that more than two-thirds of our planet is covered with water, there is a pressing need to get a holistic understanding of the effects of anthropogenic noise in aquatic ecosystems. We found experimental evidence for negative effects of anthropogenic noise on an individual's development, physiology, and/or behaviour in both invertebrates and vertebrates. We also found that species differ in their response to noise, and highlight the potential underlying mechanisms for these differences. Finally, we point out challenges in the study of aquatic noise pollution and provide directions for future research, which will enhance our understanding of this globally present pollutant

Anthropogenic Noise Affects Behavior across Sensory Modalities

Many species are currently experiencing anthropogenically driven environmental changes. Among these changes, increasing noise levels are specifically a problem for species using acoustic signals (i.e., species relying on signals that use the same sensory modality as anthropogenic noise). Yet many species use other sensory modalities, such as visual and olfactory signals, to communicate. However, we have only little understanding of whether changes in the acoustic environment affect species that use sensory modalities other than acoustic signals. We studied the impact of anthropogenic noise on the common cuttlefish Sepia officinalis, which uses highly complex visual signals. We showed that cuttlefish adjusted their visual displays by changing their color more frequently during a playback of anthropogenic noise, compared with before and after the playback. Our results provide experimental evidence that anthropogenic noise has a marked effect on the behavior of species that are not reliant on acoustic communication. Thus, interference in one sensory channel, in this case the acoustic one, affects signaling in other sensory channels. By considering sensory channels in isolation, we risk overlooking the broader implications of environmental changes for the behavior of animals

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”

Heterozygous pathogenic variants in the FN1 gene, encoding fibronectin (FN), have recently been shown to be associated with a skeletal disorder in some individuals affected by spondylometaphyseal dysplasia with “corner fractures” (SMD-CF). The most striking feature characterizing SMD-CF is irregularly shaped metaphyses giving the appearance of “corner fractures”. An array of secondary features, including developmental coxa vara, ovoid vertebral bodies and severe scoliosis, may also be present. FN is an important extra cellular matrix component for bone and cartilage development. Here we report five patients affected by this subtype of SMD-CF caused by five novel FN1 missense mutations: p.Cys123Tyr, p.Cys169Tyr, p.Cys213Tyr, p.Cys231Trp and p.Cys258Tyr. All individuals shared a substitution of a cysteine residue, disrupting disulfide bonds in the FN type-I assembly domains located in the N-terminal assembly region. The abnormal metaphyseal ossification and “corner fracture” appearances were the most remarkable clinical feature in these patients. In addition, generalized skeletal fragility with low-trauma bilateral femoral fractures was identified in one patient. Interestingly, the distal femoral changes in this patient healed with skeletal maturation. Our report expands the phenotypic and genetic spectrum of the FN1-related SMD-CF and emphasizes the importance of FN in bone formation and possibly also in the maintenance of bone strength.Peer reviewe

Improving uptake and engagement with child body image interventions delivered to mothers: Understanding mother and daughter preferences for intervention content

© 2016 Elsevier Ltd Mothers are a key influence on adolescent girls’ body image. This study aimed to improve understanding of mothers’ and daughters’ preferences for content in body image interventions designed to assist mothers to promote positive body image among their daughters. British mother–daughter dyads (N=190) viewed descriptions of five evidence-based influences on body image (family, friends, and relationships; appearance-based teasing; media and celebrities; appearance conversations; body acceptance and care). Mothers and daughters each selected the two most important influences to learn about in these interventions. Overall, both mothers and daughters most frequently opted for family, friends, and relationships and body acceptance and care, whereas media and celebrities was their least preferred topic. While the overall sample of mothers and daughters agreed on preferences, Fisher's exact tests showed that within-dyad agreement was low. Recommendations for improving parent and child engagement with, and effectiveness of, child body image interventions delivered to parents are discussed

A collaborative approach to exploring the future of Cancer treatment and care in relation to Precision Medicine: A design perspective.

The Precision Medicine and the Future of Cancer project was jointly conceived by the Innovation School at Glasgow School of Art and the Institute of Cancer Sciences at the University of Glasgow. Graduating year Product Design students from the Innovation School were presented with a challenge-based project to produce a vision of the future based on current trends that relate to Precision Medicine(PM) and Cancer treatment. This project involved working closely with scientists, clinicians, patients, industry and academic professionals from Glasgow University, staff at Queen Elizabeth University Hospital and Clinical Innovation Zone, staff at Beatson West of Scotland Cancer Centre, Patient Representatives and external design experts from Studio AndThen and GOODD design consultancy. The objective of this project was to investigate, in both analytical and speculative ways, future forms and functions of cancer treatment and care in relation to Precision Medicine, to develop future scenarios and design artefacts, services, and the experiences associated with them. One of the most significant societal shifts currently taking place within the field of PM is the transformation around what it means to be a patient and a professional working within this context. The public’s role is developing beyond once-passive patients into stakeholders valued within the medical industry and healthcare sector for their participation in clinical trials, and contribution towards policy-making and decision-making committees. This new dynamic is changing the traditional patient-doctor relationship and challenging the hegemony of medical practice at an institutional level. The impetus for this shift is relentless technological acceleration and increased scientific research, in particular driven by advances in PM. This project asked students to consider what will happen in a cancer landscape ten years from now, where PM has evolved to the extent that new forms of medical practice, cancer treatment and care transform how we interact with each other, with professionals and the world around us. The brief gave students the opportunity to reflect on the underlying complexities regarding the future of health, technological acceleration, post-capitalism and human agency, to envision a future world context, develop it as an experiential exhibit, and produce the designed products, services and experiences for the people who might live and work within it. The project was divided into two sections: The first was a collaborative stage where groups of students were assigned a specific area of focus from Social, Technological, Economic, Ethical, Educational, Political, Legal, Ecological [STEEEPLE]. These groups focused on researching and exploring their specific lenses and gathering as much information and understanding while working with external experts to further their knowledge. This group stage culminated in an exhibition of the collaborative understanding of what the future could look like in 10 years from now, after exploring the possible consequences of current actions. The second stage saw students explore their individual response to the world that had been defined in the first stage. Each student had their own response to the research by iteratively creating a design outcome that was appropriate to the subject matter. This culminated in each student having created a design product/service/experience relating to the future scenario. A full report (Project Process Journal [PPJ]) is included within the repository of each student which breaks down their process of designing and the outcome they have designed. The project aims to tackle the emerging possibilities where medical professionals and design can collaborate, to create a future where forms of medical practice are more preventative and are more appropriate for an aging population now and into the future. The deposited materials are arranged as follows: Readme files - two readme files relate to stage one and stage two of the project as outlined above. Overview poster - gives a visual overview of the structure and timeline of the project. Data folders - the data folders for stage one of the project are named for the lens through which each group viewed possible futures. The data folders for stage two of the project are named for the individual students who conducted the work

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Background: Genomics enables individualized diagnosis and treatment, but large challenges remain to functionally interpret rare variants. To date, only one causative variant has been described for KCNK9 imprinting syndrome (KIS). The genotypic and phenotypic spectrum of KIS has yet to be described and the precise mechanism of disease fully understood. Methods: This study discovers mechanisms underlying KCNK9 imprinting syndrome (KIS) by describing 15 novel KCNK9 alterations from 47 KIS-affected individuals. We use clinical genetics and computer-assisted facial phenotyping to describe the phenotypic spectrum of KIS. We then interrogate the functional effects of the variants in the encoded TASK3 channel using sequence-based analysis, 3D molecular mechanic and dynamic protein modeling, and in vitro electrophysiological and functional methodologies. Results: We describe the broader genetic and phenotypic variability for KIS in a cohort of individuals identifying an additional mutational hotspot at p.Arg131 and demonstrating the common features of this neurodevelopmental disorder to include motor and speech delay, intellectual disability, early feeding difficulties, muscular hypotonia, behavioral abnormalities, and dysmorphic features. The computational protein modeling and in vitro electrophysiological studies discover variability of the impact of KCNK9 variants on TASK3 channel function identifying variants causing gain and others causing loss of conductance. The most consistent functional impact of KCNK9 genetic variants, however, was altered channel regulation. Conclusions: This study extends our understanding of KIS mechanisms demonstrating its complex etiology including gain and loss of channel function and consistent loss of channel regulation. These data are rapidly applicable to diagnostic strategies, as KIS is not identifiable from clinical features alone and thus should be molecularly diagnosed. Furthermore, our data suggests unique therapeutic strategies may be needed to address the specific functional consequences of KCNK9 variation on channel function and regulation

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities

Experimentally increased noise levels change spatial and singing behaviour

The reasons why animal populations decline in response to anthropogenic noise are still poorly understood. To understand how populations are affected by noise, we must understand how individuals are affected by noise. By modifying the acoustic environment experimentally, we studied the potential relationship between noise levels and both spatial and singing behaviour in the European robin (Erithacus rubecula). We found that with increasing noise levels, males were more likely to move away from the noise source and changed their singing behaviour. Our results provide the first experimental evidence in a free ranging species, that not merely the presence of noise causes changes in behaviour and distribution, but that the level of noise pollution plays a crucial role as well. Our results have important implications for estimating the impact of infrastructure which differs in the level of noise produced. Thus, governmental planning bodies should not only consider the physical effect on the landscape when assessing the impact of new infrastructure, but also the noise levels emitted, which may reduce the loss of suitable habitats available for animals