Ryegrass Seeding Rate Alters Plant Morphology and Size--Possible Implications for Pasture Persistence

Poor persistence of perennial ryegrass (Lolium perenne L.) is a major dairy industry issue in New Zealand and Australia. New ryegrass seed is often drilled at 18-30 kg/ha, although previous research indicated that pastures drilled at 10-12 kg/ha can be just as productive (Frame and Boyd 1986; Praat et al. 1996). High seeding rates increase competition between developing seedlings for light, water and nutrients, reduce plant size (Harris 1990) and potentially survival. The experiment reported here investigated the effect of plant density (created by differences in seeding rate) on plant morphology and survival. The hypothesis was that plants established from high seeding rates will be smaller and, therefore, less likely to survive the first summer; a period of substantial environmental stress (e.g., high temperatures, low soil moisture, insect attack)

Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC)—a study protocol

Introduction: Around 2000 children are born in the UK per year with a neurodevelopmental genetic syndrome with significantly increased morbidity and mortality. Often little is known about expected growth and phenotypes in these children. Parents have responded by setting up social media groups to generate data themselves. Given the significant clinical evidence gaps, this research will attempt to identify growth patterns, developmental profiles and phenotypes, providing data on long-term medical and educational outcomes. This will guide clinicians when to investigate, monitor or treat symptoms and when to search for additional or alternative diagnoses. Methods and analysis: This is an observational, multicentre cohort study recruiting between March 2023 and February 2026. Children aged 6 months up to 16 years with a pathogenic or likely pathogenic variant in a specified gene will be eligible. Children will be identified through the National Health Service and via self-recruitment. Parents or carers will complete a questionnaire at baseline and again 1 year after recruitment. The named clinician (in most cases a clinical geneticist) will complete a clinical proforma which will provide data from their most recent clinical assessment. Qualitative interviews will be undertaken with a subset of parents partway through the study. Growth and developmental milestone curves will be generated through the DECIPHER website (https://deciphergenomics.org) where 5 or more children have the same genetic syndrome (at least 10 groups expected). Ethics and dissemination: The results will be presented at national and international conferences concerning the care of children with genetic syndromes. Results will also be submitted for peer review and publication

Development of Competency-based Online Genomic Medicine Training (COGENT)

The fields of genetics and genomics have greatly expanded across medicine through the development of new technologies that have revealed genetic contributions to a wide array of traits and diseases. Thus, the development of widely available educational resources for all healthcare providers is essential to ensure the timely and appropriate utilization of genetics and genomics patient care. In 2020, the National Human Genome Research Institute released a call for new proposals to develop accessible, sustainable online education for health providers. This paper describes the efforts of the six teams awarded to reach the goal of providing genetic and genomic training modules that are broadly available for busy clinicians

Research Participants’ Preferences for Hypothetical Secondary Results from Genomic Research

Secondary or incidental results can be identified in genomic research that increasingly uses whole exome/genome sequencing. Understanding research participants’ preferences for secondary results and what influences these decisions is important for patient education, counseling, and consent, and for the development of policies regarding return of secondary results. Two hundred nineteen research participants enrolled in genomic studies were surveyed regarding hypothetical preferences for specific types of secondary results, and these preferences were correlated with demographic information and psychosocial data. The majority of research participants (73%) indicated a preference to learn about all results offered, with no clear pattern regarding which results were not desired by the remaining participants. Participants who reported greater interest in genetic privacy were less likely to indicate a preference to learn all results, as were individuals who self‐identified as Jewish. Although most research participants preferred to receive all secondary results offered, a significant subset preferred to exclude some results, suggesting that an all‐or‐none policy would not be ideal for all participants. The correlations between preferences to receive secondary results, religious identification, and privacy concerns demonstrate the need for culturally sensitive counseling and educational materials accessible to all education levels to allow participants to make the best choices for themselves

Researchers’ views on return of incidental genomic research results: qualitative and quantitative findings

Purpose: Comprehensive genomic analysis including exome and genome sequencing is increasingly being utilized in research studies, leading to the generation of incidental genetic findings. It is unclear how researchers plan to deal with incidental genetic findings. Methods: We conducted a survey of the practices and attitudes of 234 members of the US genetic research community and performed qualitative semistructured interviews with 28 genomic researchers to understand their views and experiences with incidental genetic research findings. Results: We found that 12% of the researchers had returned incidental genetic findings, and an additional 28% planned to do so. A large majority of researchers (95%) believe that incidental findings for highly penetrant disorders with immediate medical implications should be offered to research participants. However, there was no consensus on returning incidental results for other conditions varying in penetrance and medical actionability. Researchers raised concerns that the return of incidental findings would impose significant burdens on research and could potentially have deleterious effects on research participants if not performed well. Researchers identified assistance needed to enable effective, accurate return of incidental findings. Conclusion: The majority of the researchers believe that research participants should have the option to receive at least some incidental genetic research results

Improving Diversity, Inclusion, and Representation in Radiology and Radiation Oncology Part 1: Why These Matter

The ACR Commission for Women and General Diversity is committed to identifying barriers to a diverse physician workforce in radiology and radiation oncology (RRO), and to offering policy recommendations to overcome these barriers. In Part 1 of a 2-part position article from the commission, diversity as a concept and its dimensions of personality, character, ethnicity, biology, biography, and organization are introduced. Terms commonly used to describe diverse individuals and groups are reviewed. The history of diversity and inclusion in US society and health care are addressed. The post–Civil Rights Era evolution of diversity in medicine is delineated: Diversity 1.0, with basic awareness, nondiscrimination, and recruitment; Diversity 2.0, with appreciation of the value of diversity but inclusion as peripheral or in opposition to other goals; and Diversity 3.0, which integrates diversity and inclusion into core missions of organizations and their leadership, and leverages its potential for innovation and contribution. The current states of diversity and inclusion in RRO are reviewed in regard to gender, race, ethnicity, sexual orientation, and gender identity. The lack of representation and unchanged demographics in these fields relative to other medical specialties are explored. The business case for diversity is discussed, with examples of successful models and potential application to the health care industry in general and to RRO. The moral, ethical, and public health imperative for diversity is also highlighted

Can hibernators sense and evade fires? Olfactory acuity and locomotor performance during deep torpor.

Increased habitat fragmentation, global warming and other human activities have caused a rise in the frequency of wildfires worldwide. To reduce the risks of uncontrollable fires, prescribed burns are generally conducted during the colder months of the year, a time when in many mammals torpor is expressed regularly. Torpor is crucial for energy conservation, but the low body temperatures (T b) are associated with a decreased responsiveness and torpid animals might therefore face an increased mortality risk during fires. We tested whether hibernators in deep torpor (a) can respond to the smell of smoke and (b) can climb to avoid fires at T bs below normothermic levels. Our data show that torpid eastern pygmy-possums (Cercartetus nanus) are able to detect smoke and also can climb. All males aroused from torpor when the smoke stimulus was presented at an ambient temperature (T a) of 15 °C (T b ∼18 °C), whereas females only raised their heads. The responses were less pronounced at T a 10 °C. The first coordinated movement of possums along a branch was observed at a mean T b of 15.6 °C, and animals were even able to climb their prehensile tail when they reached a mean T b of 24.4 °C. Our study shows that hibernators can sense smoke and move at low T b. However, our data also illustrate that at T b ≤13 °C, C. nanus show decreased responsiveness and locomotor performance and highlight that prescribed burns during winter should be avoided on very cold days to allow torpid animals enough time to respond

An electronic health record (EHR) log analysis shows limited clinician engagement with unsolicited genetic test results

How clinicians utilize medically actionable genomic information, displayed in the electronic health record (EHR), in medical decision-making remains unknown. Participating sites of the Electronic Medical Records and Genomics (eMERGE) Network have invested resources into EHR integration efforts to enable the display of genetic testing data across heterogeneous EHR systems. To assess clinicians' engagement with unsolicited EHR-integrated genetic test results of eMERGE participants within a large tertiary care academic medical center, we analyzed automatically generated EHR access log data. We found that clinicians viewed only 1% of all the eMERGE genetic test results integrated in the EHR. Using a cluster analysis, we also identified different user traits associated with varying degrees of engagement with the EHR-integrated genomic data. These data contribute important empirical knowledge about clinicians limited and brief engagements with unsolicited EHR-integrated genetic test results of eMERGE participants. Appreciation for user-specific roles provide additional context for why certain users were more or less engaged with the unsolicited results. This study highlights opportunities to use EHR log data as a performance metric to more precisely inform ongoing EHR-integration efforts and decisions about the allocation of informatics resources in genomic research

Early detection of markers for synaesthesia in childhood populations

We show that the neurological condition of synaesthesia-which causes fundamental differences in perception and cognition throughout a lifetime-is significantly represented within the childhood population, and that it manifests behavioural markers as young as age 6 years. Synaesthesia gives rise to a merging of cognitive and/or sensory functions (e.g. in grapheme-colour synaesthesia, reading letters triggers coloured visual photisms) and adult synaesthesia is characterized by a fixed pattern of paired associations for each synaesthete (e.g. if a is carmine red, it is always carmine red). We demonstrate that the onset of this systematicity can be detected in young grapheme-colour synaesthetes, but is an acquired trait with a protracted development. We show that grapheme-colour synaesthesia develops in a way that supersedes the cognitive growth of non-synaesthetic children (with both average and superior abilities) in a comparable paired association task. With methodology based on random sampling and behavioural tests of genuineness, we reveal the prevalence of grapheme-colour synaesthesia in children (over 170 000 grapheme-colour synaesthetes ages 0-17 in the UK, and over 930 000 in the US), the progression of the condition in longitudinal testing, and the developmental differences between synaesthetes and non-synaesthetes in matched tasks. We tested 615 children age 6-7 years from 21 primary schools in the UK. Each child was individually assessed with a behavioural test for grapheme-colour synaesthesia, which first detects differences between synaesthetes and non-synaesthetes, and then tracks the development of each group across 12 months (from ages 6/7 to 7/8 years). We show that the average UK primary school has 2-3 grapheme-colour synaesthetes at any time (and the average US primary school has five) and that synaesthetic associations (e.g. a = carmine red) develop from chaotic pairings into a system of fixed, consistent cogno-sensory responses over time. Our study represents the first assessment of synaesthesia in a randomly sampled childhood population demonstrating the real-time development of the condition. We discuss the complex profile of benefits and costs associated with synaesthesia, and our research calls for a dialogue between researchers, clinicians and educators to highlight the prevalence and characteristics of this unusual condition

PLS3 Missense Variants Affecting the Actin-Binding Domains Cause X-Linked Congenital Diaphragmatic Hernia and Body-Wall Defects

Congenital diaphragmatic hernia (CDH) is a relatively common and genetically heterogeneous structural birth defect associated with high mortality and morbidity. We describe eight unrelated families with an X-linked condition characterized by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. Using linkage analysis and exome or genome sequencing, we found that missense variants in plastin 3 (PLS3), a gene encoding an actin bundling protein, co-segregate with disease in all families. Loss-of-function variants in PLS3 have been previously associated with X-linked osteoporosis (MIM: 300910), so we used in silico protein modeling and a mouse model to address these seemingly disparate clinical phenotypes. The missense variants in individuals with CDH are located within the actin-binding domains of the protein but are not predicted to affect protein structure, whereas the variants in individuals with osteoporosis are predicted to result in loss of function. A mouse knockin model of a variant identified in one of the CDH-affected families, c.1497G\u3eC (p.Trp499Cys), shows partial perinatal lethality and recapitulates the key findings of the human phenotype, including diaphragm and abdominal-wall defects. Both the mouse model and one adult human male with a CDH-associated PLS3 variant were observed to have increased rather than decreased bone mineral density. Together, these clinical and functional data in humans and mice reveal that specific missense variants affecting the actin-binding domains of PLS3 might have a gain-of-function effect and cause a Mendelian congenital disorder