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A number of genomic conditions caused by copy number variants (CNVs) are associated with a high risk of neurodevelopmental and psychiatric disorders (ND-CNVs). Although these patients also tend to have cognitive impairments, few studies have investigated the range of emotion and behaviour problems in young people with ND-CNVs using measures that are suitable for those with learning difficulties.
A total of 322 young people with 13 ND-CNVs across eight loci (mean age: 9.79 years, range: 6.02–17.91, 66.5% male) took part in the study. Primary carers completed the Developmental Behaviour Checklist (DBC).
Of the total, 69% of individuals with an ND-CNV screened positive for clinically significant difficulties. Young people from families with higher incomes (OR = 0.71, CI = 0.55–0.91, p = .008) were less likely to screen positive. The rate of difficulties differed depending on ND-CNV genotype (χ2 = 39.99, p < 0.001), with the lowest rate in young people with 22q11.2 deletion (45.7%) and the highest in those with 1q21.1 deletion (93.8%). Specific patterns of strengths and weaknesses were found for different ND-CNV genotypes. However, ND-CNV genotype explained no more than 9–16% of the variance, depending on DBC subdomain.
Emotion and behaviour problems are common in young people with ND-CNVs. The ND-CNV specific patterns we find can provide a basis for more tailored support. More research is needed to better understand the variation in emotion and behaviour problems not accounted for by genotype.
Coronavirus disease 2019, a highly transmissible respiratory infection, has created a public health crisis of global magnitude. The mainstay of diagnostic testing for coronavirus disease 2019 is molecular polymerase chain reaction testing of a respiratory specimen, obtained with a viral swab. As the incidence of new cases of coronavirus disease 2019 increases exponentially, the use of viral swabs to collect nasopharyngeal specimens is anticipated to increase drastically.
This paper draws attention to a complication of viral swab testing in the nasopharynx and describes the premature engagement of a viral swab breakpoint, resulting in impaction in the nasal cavity.
This case highlights a possible design flaw of the viral swab when used to collect nasopharyngeal specimens, which then requires an aerosol-generating procedure in a high-risk patient to be performed. The paper outlines a safe technique of nasal foreign body removal in a suspected coronavirus disease 2019 patient and suggests alternative testing materials.
Although lignin has been negatively correlated with neutral-detergent fibre (NDF) digestibility (NDFD) in ruminants and used to predict potential extent of NDF digestion of forages, selection of an analysis, Klason lignin (KL) or acid-detergent lignin (ADL), to describe that the nutritionally relevant lignin has not been resolved. Dismissed as an artifact is the difference between KL and ADL (ΔL). A question is whether ΔL influences NDFD. We evaluated the relationships of ΔL, KL and ADL with NDFD in order to determine the nutritionally homogeneous or heterogeneous nature of KL. Data sets from two laboratories (DS1 and DS2) were used that included ADL, KL and in vitro NDFD at 48 h (NDFD48). DS1 contained seven C3 grasses, seventeen C4 maize forages and nineteen alfalfas, and DS2 had fifteen C3 grasses, eight C4 forages and six alfalfas. Mean ΔL was greater than ADL in C3 and C4 samples and less in alfalfas. Within forage type and laboratory, ΔL was not correlated with NDFD48 (r −0·34–0·49; all P > 0·17). ADL was more consistently correlated with NDFD48 (r −0·47–−0·95; P < 0·01–0·21) than with KL (r 0·03–−0·91; P < 0·01–0·94). ΔL as a proportion of KL was correlated with NDFD48 in C3 and C4 samples (r 0·44–0·76; P < 0·01–0·08). The differing behaviours of ΔL and ADL relative to NDFD48 indicate that KL is a nutritionally heterogeneous fraction, the behaviour of which may vary by forage type and ratios of ADL and ΔL present.
Innovation Concept: EM Sim Cases is an innovative, open-access website that was created in 2015 to publish medical simulation resources including standardized, peer-reviewed simulation cases. Herein we describe our interim analysis. Methods: We performed a massive online needs assessment using a methodology previously described by Chan et. al. to determine how we can shape EM Sim Cases to meet the needs of learners and educators who use it. We engaged with simulation experts from the Emergency Medicine Simulation Education Research Collaborative to design a Google Forms survey using best practices in survey design. We distributed the survey to our target community of practice via Twitter, email, and a blog post published on emsimcases.com. Curriculum, Tool, or Material: We received 81 responses from simulation educators representing 8 medical specialties and 13 countries. Most survey respondents identified themselves as staff physicians (n = 44) and specialized in emergency medicine (n = 39). They had 0-21+ years of experience. 37% of respondents (n = 30) stated that material from EM Sim Cases makes up 25% or more of their simulation curriculum. Several respondents noted that using this content made them feel more confident and more current. Respondents praised EM Sim Cases for a well-organized case format, the proper level of detail, consistency between case designs, and the wide variety of cases. Suggested improvements included an opportunity to directly comment on cases and more cases in pediatric, rural, and advanced airway management situations. Suggestions were made to improve the navigability of the website. Respondents wanted to see additional blog content on debriefing strategies and self-made task/skill trainers. Conclusion: EM Sim Cases is a novel, free open-access simulation resource. Using a massive online needs assessment we were able to determine future directions including case topics, website reorganization, and educational material. We were also able to capture how impactful a resource like this can be to clinical and educational practice outside of the simulation setting.
Introduction: In 2018, Canadian postgraduate specialist Emergency Medicine (EM) programs began implementing a competency-based medical education (CBME) assessment system. To support improvement of this assessment program, we sought to evaluate its short-term educational outcomes nationally and within individual programs. Methods: Program-level data from the 2018 resident cohort were amalgamated and analyzed. The number of Entrustable Professional Activity (EPA) assessments (overall and for each EPA) and the timing of resident promotion through program stages was compared between programs and to the guidelines provided by the national EM specialty committee. Total EPA observations from each program were correlated with the number of EM and pediatric EM rotations. Results: Data from 15 of 17 (88.2%) EM programs containing 9,842 EPA observations from 68 of the 77 (88.3%) Canadian EM specialist residents in the 2018 cohort were analyzed. The average number of EPAs observed per resident in each program varied from 92.5 to 229.6 and correlated strongly with the number of blocks spent on EM and pediatric EM (r = 0.83, p < 0.001). Relative to the guidelines outlined by the specialty committee, residents were promoted later than expected and with fewer EPA observations than suggested. Conclusion: We present a new approach to the amalgamation of national and program-level assessment data. There was demonstrable variation in both EPA-based assessment numbers and promotion timelines between programs and with national guidelines. This evaluation data will inform the revision of local programs and national guidelines and serve as a starting point for further reaching outcome evaluation. This process could be replicated by other national assessment programs.
Innovation Concept: A major barrier to the development of a national simulation case repository and multi-site simulation research is the lack of a standardized national case template. This issue was recently identified as a priority research topic for Canadian simulation based education (SBE) research in emergency medicine (EM). We partnered with the EM Simulation Education Researchers Collaborative (EM-SERC) to develop a national simulation template. Methods: The EM Sim Cases template was chosen as a starting point for the consensus process. We generated feedback on the template using a three-phase modified nominal group technique. Members of the EM-SERC mailing list were consulted, which included 20 EM simulation educators from every Canadian medical school except Northern Ontario School of Medicine and Memorial University. When comments conflicted, the sentiment with more comments in favour was incorporated. Curriculum, Tool or Material: In phase one we sought free-text feedback on the EM Sim Cases template via email. We received 65 comments from 11 respondents. An inductive thematic analysis identified four major themes (formatting, objectives, debriefing, and assessment tools). In phase two we sought free-text feedback on the revised template via email. A second thematic analysis on 40 comments from 12 respondents identified three broad themes (formatting, objectives, and debriefing). In phase three we sought feedback on the penultimate template via focus groups with simulation educators and technologists at multiple Canadian universities. This phase generated 98 specific comments which were grouped according to the section of the template being discussed and used to develop the final template (posted on emsimcases.com). Conclusion: We describe a national consensus-building process which resulted in a simulation case template endorsed by simulation educators from across Canada. This template has the potential to: 1. Reduce the replication of effort across sites by facilitating the sharing of simulation cases. 2. Enable national collaboration on the development of both simulation cases and curricula. 3. Facilitate multi centre simulation-based research by removing confounders related to the local adoption of an unfamiliar case template. This could improve the rigour and validity of these studies by reducing inter-site variability. 4. Increase the validity of any simulation scenarios developed for use in national high-stakes assessment.
Altered neurocognitive function in schizophrenia could reflect both genetic and illness-specific effects.
To use functional magnetic resonance imaging to discriminate between the influences of the genetic risk for schizophrenia and environmental factors on the neural substrate of verbal fluency, a candidate schizophrenia endophenotype using a case control twin design.
We studied 23 monozygotic twin pairs: 13 pairs discordant for schizophrenia and 10 pairs of healthy volunteer twins. Groups were matched for age, gender, handedness, level of education, parental socio-economic status, and ethnicity. Behavioural performance and regional brain activation during a phonological verbal fluency task were assessed.
Relative to healthy control twins, both patients and their non-psychotic co-twins produced fewer correct responses and showed less activation in the medial temporal region and inferior frontal gyrus. Twins with schizophrenia showed greater activation than both their non-psychotic co-twins and controls in right lateral temporal cortex, reflecting reduced deactivation during word generation while their non-psychotic co-twins showed greater activation in the left temporal cortex.
Both genetic vulnerability to schizophrenia and schizophrenia were associated with impaired verbal fluency performance, reduced engagement of the medial temporal region and dorsal inferior frontal gyrus. Schizophrenia was specifically associated with an additional reduction in deactivation in the right temporal cortex.
Postpartum onset of anxiety disorders, particularly of obsessive-compulsive disorder (OCD) are rarely reported in the literature although frequently observed in the clinical setting. The obsessions and compulsions focus on the newborn and create immense distress. Research on the stress response in postpartum psychiatric populations is limited and the neural and neuroendocrine correlates of postpartum OCD is unclear. Few studies investigated the brain circuitry involved in OCD, very few included women and none in the postpartum period, and none of which focus on the stress reactivity underlying network.
The purpose of this study is to examine neural activation in women with postpartum OCD as compared to healthy postpartum women in response to a stress task using functional magnetic resonance imaging (fMRI).
Subjects are females diagnosed with postpartum OCD and matched healthy controls. During the stress phase, fMRI is recorded to observe brain activity while subjects complete the Montreal Imaging Stress Task (MIST), a psychological stressor. Saliva samples are obtained before and after the stressor to assess the hormonal stress response along with subjective stress rating.
To date, 9 postpartum OCD women and 10 controls completed the study. Preliminary analyses show that the majority of the subjects demonstrated an increase in subjective stress rating with postpartum OCD women experiencing the MIST more stressful compared to controls. As previously reported we observed deactivation throughout the limbic system in all subjects but only the postpartum OCD women also recruited the orbitofrontal cortex.
These preliminary observations are consistent with the literature and point toward a distinct stress brain activation pattern in postpartum OCD women. It is hoped that the results of this study will provide further insight into the nature of neurophysiological and neuroendocrinological involvement in postpartum OCD.
Craving in negative emotional situations (negative craving) is commonly associated with relapse and heavy alcohol use. Elevated dynorphin levels were associated with negative emotions, while variations in the OPRK1 and PDYN genes encoding OPRK1 receptor and dynorphins were associated with alcohol dependence.
To investigate potential overlap in the genetic factors underlying, negative craving and alcohol dependence.
Examine the association of the negative craving and genetic variation in the OPRK1 and PDYN genes.
13 PDYN and 10 OPRK1 Single Nucleotide Polymorphisms (SNPs), including those previously reported to be associated with alcohol dependence were genotyped in 196 alcohol dependent subjects. The raw scores of the negative subscale of Inventory of Drug Taking Situations (IDTS) were utilized as a quantitative measure of negative craving. Logistic regression models were used to test for associations after controlling for age and gender.
Gene-level haplotype testing demonstrated significant association of negative craving with variation in PDYN (p < 0.05) but not OPRK1 gene. The rs2281285 - rs199794 haplotype showed significant association (p = 0.0236) with negative craving, while rs2235749 - rs10485703 haplotype showed marginally significant association (p = 0.055). This replicates previous findings of association between these haplotypes and alcohol dependence. Negative craving was also associated with PDYN rs2281285 variant (p = 0.012) with estimated effect size of 6.95 (SE = 2.75). This new association finding was not significant after correction for multiple testing (p = 0.18).
Our findings support association of PDYN sequence variation with negative craving in alcohol dependent subjects. Future studies should investigate functional mechanisms of this association.
[Improvement in daily accessible risk assessments]
We show enhanced patient safety through a quality improvement methodology project in an intensive psychiatric care unit of a psychiatric hospital in southwest of Scotland. This is a project as part of the national patient safety programme in mental health. The Scottish Patient Safety Programme for Mental Health aims to systematically reduce harm experienced by people using mental health services in Scotland, by supporting frontline staff to test, gather real-time data and reliably implement interventions, before spreading across their catchment area.
Multidisciplinary staff worked together in improving recording of daily electronic and paper based risk assessments from a baseline of 20% to nearly 100% over a sixth month period. We expect better quality risk management by readily accessible risk assessments and safe practise through enhanced safety perception by the patients as well as staff. Patient and staff safety perception tools were designed to measure impact of improvement in risk management. We have seen drop in the number of critical incidents and challenging situations requiring restraint following coordinated approach to risk assessment and easy access to key information. We have been successful as the frontline staff became part of the process of change and this has enabled sustained improvement.
The biosocial developmental model of Borderline Personality Disorder (BPD) proposes that early vulnerability, indicated by behavioral and emotional dysregulation, is potentiated across development by environmental risk factors, culminating in BPD. However, empirical research pertaining to this hypothesis is lacking. The aim of this prospective cohort study was to determine whether dysregulated behavior in childhood is predictive of BPD symptoms in early adolescence; and whether this association is potentiated by negative parent or peer interactions.
The prospective sample consisted of 5711 children in the UK (ALSPAC). Dysregulated behaviour and emotions during the first 7 years of life were assessed and peer victimisation and parenting between 8 and 10 years of age. BPD was assessed at 11–12 years with the UK Childhood Interview for DSM-IV Borderline Personality Disorder (UK-CI-BPD); based on the borderline module of the Diagnostic Interview for DSM-IV Personality Disorders. Five or more BPD probable/definite symptoms were present in 7.3% of the population.
Stable dysregulated behavior, experience of harsh parenting and peer victimization during childhood predicted BPD symptoms at 11 years. However, the association between dysregulated behavior and BPD was entirely dependent on whether the child had experienced peer victimization but not on harsh parenting. Children who were highly dysregulated in their behavior, and victimized, experienced the highest levels of BPD symptoms.
Consistent with the biosocial developmental theory, trait dysregulation is potentiated across development by exposure to environmental risk: Peer victimization. Interventions targeting early dysregulated behavior or peer victimisation may reduce the development of BPD symptoms.
Optimal stroke care requires access to resources such as neuroimaging, acute revascularization, rehabilitation, and stroke prevention services, which may not be available in rural areas. We aimed to determine geographic access to stroke care for residents of rural communities in the province of Ontario, Canada.
We used the Ontario Road Network File database linked with the 2016 Ontario Acute Stroke Care Resource Inventory to estimate the proportion of people in rural communities, defined as those with a population size <10,000, who were within 30, 60, and 240 minutes of travel time by car from stroke care services, including brain imaging, thrombolysis treatment centers, stroke units, stroke prevention clinics, inpatient rehabilitation facilities, and endovascular treatment centers.
Of the 1,496,262 people residing in rural communities, the majority resided within 60 minutes of driving time to a center with computed tomography (85%), thrombolysis (81%), a stroke unit (68%), a stroke prevention clinic (74%), or inpatient rehabilitation (77.0%), but a much lower proportion (32%) were within 60 minutes of driving time to a center capable of providing endovascular thrombectomy (EVT).
Most rural Ontario residents have appropriate geographic access to stroke services, with the exception of EVT. This information may be useful for jurisdictions seeking to optimize the regional organization of stroke care services.
The role of silicon (Si) in alleviating the effects of biotic and abiotic stresses, including defence against insect herbivores, in plants is widely reported. Si defence against insect herbivores is overwhelmingly studied in grasses (especially the cereals), many of which are hyper-accumulators of Si. Despite being neglected, legumes such as soybean (Glycine max) have the capacity to control Si accumulation and benefit from increased Si supply. We tested how Si supplementation via potassium, sodium or calcium silicate affected a soybean pest, the native budworm Helicoverpa punctigera Wallengren (Lepidoptera: Noctuidae). Herbivory reduced leaf biomass similarly in Si-supplemented (+Si) and non-supplemented (–Si) plants (c. 29 and 23%, respectively) relative to herbivore-free plants. Both Si supplementation and herbivory increased leaf Si concentrations. In relative terms, herbivores induced Si uptake by c. 19% in both +Si and –Si plants. All Si treatments reduced H. punctigera relative growth rates (RGR) to a similar extent for potassium (−41%), sodium (−49%) and calcium (−48%) silicate. Moreover, there was a strong negative correlation between Si accumulation in leaves and herbivore RGR. To our knowledge, this is only the second report of Si-based herbivore defence in soybean; the rapid increase in leaf Si following herbivory being indicative of an induced defence. Taken together with the other benefits of Si supplementation of legumes, Si could prove an effective herbivore defence in legumes as well as grasses.
The RemoveDEBRIS mission has been the first mission to successfully demonstrate, in-orbit, a series of technologies that can be used for the active removal of space debris. The mission started late in 2014 and was sponsored by a grant from the EC that saw a consortium led by the Surrey Space Centre to develop the mission, from concept to in-orbit demonstrations, that terminated in March 2019. Technologies for the capture of large space debris, like a net and a harpoon, have been successfully tested together with hardware and software to retrieve data on non-cooperative target debris kinematics from observations carried out with on board cameras. The final demonstration consisted of the deployment of a drag-sail to increase the drag of the satellite to accelerate its demise.
The prevalence and impact of motor coordination difficulties in children with copy number variants associated with neurodevelopmental disorders (ND-CNVs) remains unknown. This study aims to advance understanding of motor coordination difficulties in children with ND-CNVs and establish relationships between intelligence quotient (IQ) and psychopathology.
169 children with an ND-CNV (67% male, median age = 8.88 years, range 6.02–14.81) and 72 closest-in-age unaffected siblings (controls; 55% male, median age = 10.41 years, s.d. = 3.04, range 5.89–14.75) were assessed with the Developmental Coordination Disorder Questionnaire, alongside psychiatric interviews and standardised assessments of IQ.
The children with ND-CNVs had poorer coordination ability (b = 28.98, p < 0.001) and 91% of children with an ND-CNV screened positive for suspected developmental coordination disorder, compared to 19% of controls (OR = 42.53, p < 0.001). There was no difference in coordination ability between ND-CNV genotypes (F = 1.47, p = 0.184). Poorer coordination in children with ND-CNV was associated with more attention deficit hyperactivity disorder (ADHD) (β = −0.18, p = 0.021) and autism spectrum disorder trait (β = −0.46, p < 0.001) symptoms, along with lower full-scale (ß = 0.21, p = 0.011), performance (β = −0.20, p = 0.015) and verbal IQ (β = 0.17, p = 0.036). Mediation analysis indicated that coordination ability was a full mediator of anxiety symptoms (69% mediated, p = 0.012), and a partial mediator of ADHD (51%, p = 0.001) and autism spectrum disorder trait symptoms (66%, p < 0.001) as well as full scale IQ (40%, p = 0.002), performance IQ (40%, p = 0.005) and verbal IQ (38%, p = 0.006) scores.
The findings indicate that poor motor coordination is highly prevalent and closely linked to risk of mental health disorder and lower intellectual function in children with ND-CNVs. Future research should explore whether early interventions for poor coordination ability could ameliorate neurodevelopmental risk.
The completion of a laser safety course remains a core surgical curriculum requirement for otolaryngologists training in the UK. This project aimed to develop a comprehensive laser safety course utilising both technical and non-technical skills simulation.
Otolaryngology trainees and consultants from the West of Scotland Deanery attended a 1-day course comprising lectures, two high-fidelity simulation scenarios and a technical simulation of safe laser use in practice.
The course, and in particular the use of simulation training, received excellent feedback from otolaryngology trainees and consultants who participated. Both simulation scenarios were validated for future use in laser simulation.
The course has been recognised as a laser safety course sufficient for the otolaryngology Certificate of Completion of Training. To the authors’ knowledge, this article represents the first description of using in situ non-technical skills simulation training for teaching laser use in otolaryngology.