Health checks for autistic adults: study protocol for a cluster randomised controlled trial.

Background: Autistic people commonly have physical and mental health conditions. They also frequently experience barriers to accessing healthcare, contributing to problems identifying and treating health conditions. These factors may lead to increased and earlier morbidity and lower average life expectancy for autistic people.

A novel human pluripotent stem cell gene activation system identifies IGFBP2 as a mediator in the production of haematopoietic progenitors in vitro.

A major challenge in the stem cell biology field is the ability to produce fully functional cells from induced pluripotent stem cells (iPSCs) that are a valuable resource for cell therapy, drug screening, and disease modelling. Here, we developed a novel inducible CRISPR-mediated activation strategy (iCRISPRa) to drive the expression of multiple endogenous transcription factors (TFs) important for in vitro cell fate and differentiation of iPSCs to haematopoietic progenitor cells. This work has identified a key role for IGFBP2 in developing haematopoietic progenitors.

An Attribution of Value Framework for Combination Treatments.

Objectives: The use of cost-effectiveness methods to support policy decisions has become well established, but difficulties can arise when evaluating a new treatment that is indicated to be used in combination with an established backbone treatment. If the latter has been priced close to the decision maker's willingness-to-pay threshold, this may mean that there is no headroom for the new treatment to demonstrate value, at any price, even if the combination is clinically effective. Without a mechanism for attributing value to component treatments within a combination therapy, the health system risks generating negative funding decisions for combinations of proven clinical benefit to patients.

A national survey on the use of ultrasound as an educational tool to complement anatomy teaching at UK medical schools.

Our aim was to investigate the current use of ultrasound (US) in anatomy teaching across the UK, and to discover potential obstacles in its implementation in the undergraduate medical curriculum. An electronic survey consisting of 31 questions was distributed to anatomy course organizers at all 42 UK medical schools from June to October 2022. Both quantitative and qualitative data were obtained.

Proteomic analysis reveals a potential role for extracellular vesicles within the erythroblastic island niche.

Erythroblastic island (EBI) macrophages play an essential role in the production and maturation of the vast numbers of red blood cells (RBCs) that are produced throughout life. Their location within the bone marrow makes it difficult to study the cellular and molecular interactions associated with their action so we have used an model of the EBI niche using macrophages derived from human induced pluripotent stem cells (hiPSCs). We previously demonstrated that the activation of the transcription factor KLF1 enhanced the activity of hiPSC-derived EBI macrophages.

Simultaneous Focal Boost With Stereotactic Radiation Therapy for Localized Intermediate- to High-Risk Prostate Cancer: Primary Outcomes of the SPARC Phase 2 Trial.

Purpose: Dose-escalated radiation therapy is associated with better biochemical control at the expense of toxicity. Stereotactic body radiation therapy (SBRT) with dose escalation to the dominant intraprostatic lesion (DIL) provides a logical approach to improve outcomes in high-risk disease while limiting toxicity. This study evaluated the toxicity and quality of life (QoL) with CyberKnife-based SBRT and simultaneous integrated boost in localized prostate cancer.

The genetic legacy of the first successful reintroduction of a mammal to Britain: Founder events and attempted genetic rescue in Scotland's beaver population.

Conservation translocations often inherently involve a risk of genetic diversity loss, and thus loss of adaptive potential, but this risk is rarely quantified or monitored through time. The reintroduction of beavers to Scotland, via the Scottish Beaver Trial in Knapdale, is an example of a translocation that took place in the absence of genetic data for the founder individuals and resulted in a small and suspected to be genetically depauperate population. In this study we use a high-density SNP panel to assess the genetic impact of that initial translocation and the effect of subsequent reinforcement translocations using animals from a different genetic source to the original founders.

Marginalising dyslexic researchers is bad for science.

Communication in the sciences is often based on text, which places researchers with dyslexia at a disadvantage. However, this means that science is missing out on the original insights and specific strengths in exploration that dyslexic researchers bring to their disciplines. Here we discuss how the scientific community can address the challenges that dyslexic researchers face, and how science stands to benefit as a result.

Genomics and conservation: Guidance from training to analyses and applications.

Environmental change is intensifying the biodiversity crisis and threatening species across the tree of life. Conservation genomics can help inform conservation actions and slow biodiversity loss. However, more training, appropriate use of novel genomic methods and communication with managers are needed.

Modelling the erythroblastic island niche of dyserythropoietic anaemia type IV patients using induced pluripotent stem cells.

Congenital dyserythropoietic anaemia (CDA) type IV has been associated with an amino acid substitution, Glu325Lys (E325K), in the transcription factor KLF1. These patients present with a range of symptoms, including the persistence of nucleated red blood cells (RBCs) in the peripheral blood which reflects the known role for KLF1 within the erythroid cell lineage. The final stages of RBCs maturation and enucleation take place within the erythroblastic island (EBI) niche in close association with EBI macrophages.

Diagnostic dilemma in a patient with upper arm mass with history of breast cancer and melanoma.

We present a case of upper limb muscle metastasis in a female patient with a history of malignant melanoma. Although melanoma is the fifth most common cancer in the UK, muscle metastases are extremely rare, with only a few cases reported in the literature. We discuss the challenge of diagnosing muscle metastasis on radiological imaging and in particular of distinguishing metastatic lesions to muscle from sarcoma.

"People say you're going home, but I don't have a home": Housing After Prison.

Recidivism in Australia is high, especially in the Australian Capital Territory (ACT). While high-quality stable housing has been shown to reduce recidivism, people released from prison face many barriers in obtaining housing. This paper reports on a qualitative study exploring the housing experiences of 11 people released from prison in the ACT.

Co-design of an NHS primary care health check for autistic adults.

Autistic people are on average more likely to experience poor health than people who are not autistic. Health checks have been shown to improve access to effective healthcare. This study investigated people's views about a primary care health check for autistic adults.

Developing the FEEDS toolkit of parent-delivered interventions for eating, drinking and swallowing difficulties in young children with neurodisability: findings from a Delphi survey and stakeholder consultation workshops.

Background: Young children with neurodisability commonly experience eating, drinking and swallowing difficulties (EDSD). Little is documented about which interventions and outcomes are most appropriate for such children. We aimed to seek consensus between parents of children with neurodisability and health professionals on the appropriate interventions and outcomes to inform future clinical developments and research studies.

Carers' Health-Related Quality of Life in Global Health Technology Assessment: Guidance, Case Studies and Recommendations.

Including health outcomes for carers as well as patients in economic evaluations can change the results and conclusions of the analysis. Whilst in many disease areas there can be clear justification for including carers' health-related quality of life (HRQL) in health technology assessments (HTAs), we believe that, in general, the perspective of carers is under-represented in HTA. We were interested in the extent, and methods by which, HTA bodies include carers' HRQL in economic evaluation.

Developmental Dyslexia: Disorder or Specialization in Exploration?

We raise the new possibility that people diagnosed with developmental dyslexia (DD) are specialized in explorative cognitive search, and rather than having a neurocognitive disorder, play an essential role in human adaptation. Most DD research has studied educational difficulties, with theories framing differences in neurocognitive processes as deficits. However, people with DD are also often proposed to have certain strengths - particularly in realms like discovery, invention, and creativity - that deficit-centered theories cannot explain.

Views about primary care health checks for autistic adults: UK survey findings.

Background: Compared with the general population, autistic adults experience higher rates of physical and mental health conditions, premature morbidity and mortality, and barriers to health care. A health check for autistic people may improve their health outcomes.

Aim: To establish the views of autistic people towards a primary care health check for autistic people.

Contact experiences and needs of children of prisoners before and during COVID-19: Findings from an Australian survey.

Most of the research examining children visiting a parent in prison indicates that visits have a positive impact on children's well-being, their connection to the imprisoned parent and the parent themselves. However, the COVID-19 pandemic brought about a significant change to prison visits worldwide, with limits or bans on face-to-face contact. Understanding the experiences and needs of children during this period remains limited.

Diverse single-stranded DNA viruses identified in New Zealand (Aotearoa) South Island robin (Petroica australis) fecal samples.

The South Island robin (Petroica australis) is a small passerine bird endemic to New Zealand (Aotearoa). Although its population has declined recently and it is considered 'at risk,' little research has been done to identify viruses in this species. This study aimed to survey the diversity of single-stranded DNA viruses associated with South Island robins in a small, isolated population on Nukuwaiata Island.

Initial collection, characterization, and storage of tuatara (Sphenodon punctatus) sperm offers insight into their unique reproductive system.

Successful reproduction is critical to the persistence of at-risk species; however, reproductive characteristics are understudied in many wild species. New Zealand's endemic tuatara (Sphenodon punctatus), the sole surviving member of the reptile order Rhynchocephalia, is restricted to 10% of its historic range. To complement ongoing conservation efforts, we collected and characterized mature sperm from male tuatara for the first time.

Parent-delivered interventions used at home to improve eating, drinking and swallowing in children with neurodisability: the FEEDS mixed-methods study.

Background: Eating, drinking and swallowing difficulties are common in young children with neurodisability. These difficulties may lead to inadequate calorie intake, which affects a child's nutrition, growth and general physical health.

Objective: To examine which interventions are available that can be delivered at home by parents to improve eating, drinking and swallowing in young children with neurodisability and are suitable for investigation in pragmatic trials.

Understanding the barriers to food safety scheme certification in the food and drink manufacturing industry in Wales, UK.

It is increasingly essential for food manufacturers to have food safety certification. Little is known about certification in the Welsh food industry. This study aimed to explore perceptions of Welsh manufacturers regarding the drivers, benefits and barriers to obtaining certification.