"Adrift From the World": Exploring the Lived Experiences of Individuals Affected by an Inherited Optic Neuropathy in the United Kingdom-A Qualitative Study.

Objectives: Little is understood about the lived experiences of individuals affected by inherited optic neuropathies (IONs) in the United Kingdom. The aim of this study was to understand how autosomal dominant optic atrophy (DOA) and Leber hereditary optic neuropathy, the 2 more commonly encountered IONs, impact affected individuals and the factors contributing to their vision-related quality of life (VRQoL).

Methods: Semistructured qualitative interviews were conducted with 20 individuals with a genetic diagnosis of DOA (10 participants) or Leber hereditary optic neuropathy (10 participants) and affected by vision loss.

Adapting the BOADICEA breast and ovarian cancer risk models for the ethnically diverse UK population.

Background: BOADICEA is a widely used algorithm for predicting breast and ovarian cancer risks, using a combination of genetic and lifestyle, hormonal and reproductive risk factors. However, it has largely been developed using data from White/European individuals, limiting its applicability to other ethnicities. Here, we updated BOADICEA to provide ethnicity-specific risk estimates.

Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: results from EMBRACE.

Background: Carriers of germline pathogenic variants (PVs) in the BRCA1 and BRCA2 genes are at higher risk of developing breast and ovarian cancer than the general population. It is unclear if these PVs influence other breast or ovarian cancer risk factors, including age at menopause (ANM), age at menarche (AAM), menstrual cycle length, BMI or height. There is a biological rationale for associations between BRCA1 and BRCA2 PVs and reproductive traits, for example involving DNA damage and repair mechanisms.

Comparison of two benthic assemblage sampling gears for use on intertidal oyster reefs in Louisiana.

Background: Estuarine biodiversity plays a vital role in supporting ecosystem functions yet remains threatened by climate change and anthropogenic activity. Tracking and identifying estuarine biodiversity trends helps management ensure long-term provisions of human and environmental benefits by contributing to the estimation of habitat loss and the monitoring of restoration and conservation progress. However, results obtained using different sampling gears and different biodiversity metrics may lead researchers to reach different conclusions, which can lead to uncertainty in the actual state of the ecosystem-level biodiversity.

Primary care online training on multifactorial breast cancer risk: pre-post evaluation study.

Background: It is estimated that>250,000 women in the United Kingdom (UK) are at increased risk of breast cancer, but only a small fraction are identified. Digital tools, such as CanRisk, enable multifactorial breast cancer risk assessment. Implementation of such tools within primary care would allow primary care professionals (PCPs) to reassure women at population-level risk and identify those at increased risk who will benefit most from targeted prevention or early detection.

Economic evaluation of personalised versus conventional risk assessment for women who have undergone testing for hereditary breast and ovarian cancer genes: a modelling study.

Background: The management of women with germline pathogenic variants (GPVs) in breast (BC) and ovarian cancer (OC) susceptibility genes is focused on surveillance and risk-reducing surgery/medication. Most women are assigned an average range of risk and treated accordingly, but it is possible to personalise this. Here, we explore the economic impact of risk personalisation.

Metals in the coastal systems of Abaco Island, The Bahamas following Hurricane Dorian.

Hurricanes can introduce metals into coastal systems. Unfortunately, metal concentrations are unknown in many hurricane prone locations. Here we measured vanadium, chromium, manganese, iron, cobalt, nickel, copper, zinc, arsenic, molybdenum, cadmium, antimony, barium, lead, and uranium in surface water, sediments, and seagrass (Thalassia testudinum) collected in seagrass beds and marinas around The Abacos, The Bahamas in November 2019, May 2020, and June and December 2021 to establish a post-Hurricane Dorian baseline, assess changes post-storm, and understand bioconcentration in seagrass.

Acceptability of digital health interventions in perioperative care: a systematic review and narrative synthesis of clinician perspectives.

Objectives: To identify themes relating to clinician acceptability of digital health intervention (DHIs) in the perioperative setting.

Design: Systematic review and narrative synthesis applying an inductive-deductive framework synthesis approach.

Data Sources: Medline, Embase and Cumulative Index to Nursing and Allied Health Literature for studies published between inception and 6 March 2023.

Arithmetic normalisation models for the effects of lipid on carbon stable isotope values in silver carp () tissue.

Invasive silver carp () threaten Mississippi River basin ecosystems due to their ability to outcompete native species. Stable carbon (δC) and nitrogen (δN) isotope analysis has been used to study how silver carp impact native ecosystems, but lipids in fish tissues commonly bias their δC values. Chemical lipid extraction and mathematical equations that normalise δC values for lipid content can account for this bias, but have not been assessed for silver carp.

Conserving ecosystem integrity: Ecological theory as a guide for marine protected area monitoring.

Global policies increasingly focus on the importance of maintaining or improving the integrity of ecosystems, but defining, assessing, and monitoring integrity in marine protected areas (MPAs) remains a challenge. In this paper, we conceptualized ecological integrity along dimensions of heterogeneity and stability containing seven components: physical structure, diversity, function, persistence, resistance, resilience, and natural variability. Through a structured literature search, we identified indicators and metrics used for quantifying ecosystem status components in the marine environment, then reviewed MPA management plans worldwide for inclusion of these components.

Joint ABS-UKCGG-CanGene-CanVar consensus regarding the use of CanRisk in clinical practice.

Background: The CanRisk tool, which operationalises the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) is used by Clinical Geneticists, Genetic Counsellors, Breast Oncologists, Surgeons and Family History Nurses for breast cancer risk assessments both nationally and internationally. There are currently no guidelines with respect to the day-to-day clinical application of CanRisk and differing inputs to the model can result in different recommendations for practice.

Methods: To address this gap, the UK Cancer Genetics Group in collaboration with the Association of Breast Surgery and the CanGene-CanVar programme held a workshop on 16 of May 2023, with the aim of establishing best practice guidelines.

Acceptability of magnetic resonance imaging for prostate cancer diagnosis with patients and GPs: a qualitative interview study.

Background: Magnetic resonance imaging (MRI) of the prostate is a new, more accurate, non-invasive test for prostate cancer diagnosis.

Aim: To understand the acceptability of MRI for patients and GPs for prostate cancer diagnosis.

Design And Setting: Qualitative study of men who had undergone a prostate MRI for possible prostate cancer, and GPs who had referred at least one man for possible prostate cancer in the previous 12 months in West London and Devon.

Treating insomnia in people who are incarcerated: a feasibility study of a multicomponent treatment pathway.

Around 60% of people who are incarcerated have insomnia; 6-10 times more prevalent than the general population. Yet, there is no standardized, evidence-based approach to insomnia treatment in prison. We assessed the feasibility of a treatment pathway for insomnia in a high-secure prison to inform a future randomized controlled trial (RCT) and initial efficacy data for sleep and mental health outcomes.

Effects of colour-coded compartmentalised syringe trays on anaesthetic drug error detection under cognitive load.

Background: Anaesthetic drug administration is complex, and typical clinical environments can entail significant cognitive load. Colour-coded anaesthetic drug trays have shown promising results for error identification and reducing cognitive load.

Methods: We used experimental psychology methods to test the potential benefits of colour-coded compartmentalised trays compared with conventional trays in a simulated visual search task.

The maluma/takete effect is late: No longitudinal evidence for shape sound symbolism in the first year.

The maluma/takete effect refers to an association between certain language sounds (e.g., /m/ and /o/) and round shapes, and other language sounds (e.

Improving personalised care and support planning for people living with treatable-but-not-curable cancer.

People living with treatable-but-not-curable (TbnC) cancer encounter cancer-related needs. While the NHS long-term plan commits to offering a Holistic Needs Assessment (HNA) and care plan to all people diagnosed with cancer, the content, delivery and timing of this intervention differs across practice. Understanding how people make sense of their cancer experience can support personalised care.

Exploring the barriers to and facilitators of implementing CanRisk in primary care: a qualitative thematic framework analysis.

Background: The CanRisk tool enables the collection of risk factor information and calculation of estimated future breast cancer risks based on the multifactorial Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) model. Despite BOADICEA being recommended in National Institute for Health and Care Excellence (NICE) guidelines and CanRisk being freely available for use, the CanRisk tool has not yet been widely implemented in primary care.

Aim: To explore the barriers to and facilitators of the implementation of the CanRisk tool in primary care.

Respite and connection: Autistic adults' reflections upon nature and well-being during the Covid-19 pandemic.

The Covid-19 pandemic and associated lockdowns provided opportunities to spend time in nature, with many people reporting that this benefitted their well-being. However, existing research from the pandemic period has focused on the way general populations experienced nature; less is known about how autistic people used nature to support their well-being during the pandemic. We created a survey that invited autistic adults living in the United Kingdom to reply to text box questions.

Proactive breast cancer risk assessment in primary care: a review based on the principles of screening.

In the UK, the National Institute for Health and Care Excellence (NICE) recommends that women at moderate or high risk of breast cancer be offered risk-reducing medication and enhanced breast screening/surveillance. In June 2022, NICE withdrew a statement recommending assessment of risk in primary care only when women present with concerns. This shift to the proactive assessment of risk substantially changes the role of primary care, in effect paving the way for a primary care-based screening programme to identify those at moderate or high risk of breast cancer.