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Copy number variants (CNVs) have been associated with the risk of schizophrenia, autism and intellectual disability. However, little is known about their spectrum of psychopathology in adulthood.
We investigated the psychiatric phenotypes of adult CNV carriers and compared probands, who were ascertained through clinical genetics services, with carriers who were not. One hundred twenty-four adult participants (age 18–76), each bearing one of 15 rare CNVs, were recruited through a variety of sources including clinical genetics services, charities for carriers of genetic variants, and online advertising. A battery of psychiatric assessments was used to determine psychopathology.
The frequencies of psychopathology were consistently higher for the CNV group compared to general population rates. We found particularly high rates of neurodevelopmental disorders (NDDs) (48%), mood disorders (42%), anxiety disorders (47%) and personality disorders (73%) as well as high rates of psychiatric multimorbidity (median number of diagnoses: 2 in non-probands, 3 in probands). NDDs [odds ratio (OR) = 4.67, 95% confidence interval (CI) 1.32–16.51; p = 0.017) and psychotic disorders (OR = 6.8, 95% CI 1.3–36.3; p = 0.025) occurred significantly more frequently in probands (N = 45; NDD: 39[87%]; psychosis: 8[18%]) than non-probands (N = 79; NDD: 20 [25%]; psychosis: 3[4%]). Participants also had somatic diagnoses pertaining to all organ systems, particularly conotruncal cardiac malformations (in individuals with 22q11.2 deletion syndrome specifically), musculoskeletal, immunological, and endocrine diseases.
Adult CNV carriers had a markedly increased rate of anxiety and personality disorders not previously reported and high rates of psychiatric multimorbidity. Our findings support in-depth psychiatric and medical assessments of carriers of CNVs and the establishment of multidisciplinary clinical services.
As the feature size of crystalline materials gets smaller, the ability to correctly interpret geometrical sample information from electron backscatter diffraction (EBSD) data becomes more important. This paper uses the notion of transition curves, associated with line scans across grain boundaries (GBs), to correctly account for the finite size of the excitation volume (EV) in the determination of the geometry of the boundary. Various metrics arising from the EBSD data are compared to determine the best experimental proxy for actual numbers of backscattered electrons that are tracked in a Monte Carlo simulation. Consideration of the resultant curves provides an accurate method of determining GB position (at the sample surface) and indicates a significant potential for error in determining GB position using standard EBSD software. Subsequently, simple criteria for comparing experimental and simulated transition curves are derived. Finally, it is shown that the EV is too shallow for the curves to reveal subsurface geometry of the GB (i.e., GB inclination angle) for most values of GB inclination.
To identify the ways in which parental involvement can be incorporated into interventions to support adolescent health behaviour change.
Data from semi-structured interviews were analysed using inductive thematic analysis.
Southampton, Hampshire, UK.
A convenience sample of twenty-four parents of adolescents.
Parents consider themselves to play an important role in supporting their adolescents to make healthy choices. Parents saw themselves as gatekeepers of the household and as role models to their adolescents but recognised this could be both positive and negative in terms of health behaviours. Parents described the changing dynamics of the relationships they have with their adolescents because of increased adolescent autonomy. Parents stated that these changes altered their level of influence over adolescents’ health behaviours. Parents considered it important to promote independence in their adolescents; however, many described this as challenging because they believed their adolescents were likely to make unhealthy decisions if not given guidance. Parents reported difficulty in supporting adolescents in a way that was not viewed as forceful or pressuring.
When designing adolescent health interventions that include parental components, researchers need to be aware of the disconnect between public health recommendations and the everyday reality for adolescents and their parents. Parental involvement in adolescent interventions could be helpful but needs to be done in a manner that is acceptable to both adolescents and parents. The findings of this study may be useful to inform interventions which need to consider the transitions and negotiations which are common in homes containing adolescents.
Consumption is driven by children’s sensory acceptance, but little is known about the sensory characteristics of vegetables that children commonly eat. A greater understanding could help design more effective interventions to help raise intakes, thus realising beneficial health effects. This study sought to: (1) Understand the vegetable consumption patterns in children, with and without potatoes, using the Australian and WHO definitions. (2) Describe the sensory characteristics of vegetables consumed by children by age group, level of intake and variety. (3) Determine the vegetable preferences of children, by age group, level of intake and variety.
Analysis of National Nutrition Survey data, combining reported vegetable intake with sensory characteristics described by a trained panel.
A nationally representative sample of Australian children and adolescents aged 2–17·9 years (n 2812).
While consumption increased in older age groups, variety remained constant. Greater variety, however, was associated with higher vegetable consumption. Potato intake increased with consumption, contributing over one-third of total vegetable intake for highest vegetable consumption and for older age groups. Children favoured relatively sweet vegetables and reported lower consumption of bitter vegetables. There were no differences in the sensory properties of vegetables consumed by children in different age groups. After potatoes, carrots, sweetcorn, mixtures, fruiting and cruciferous types were preferred vegetables.
Children tend to prefer vegetables with sensory characteristics consistent with innate taste preferences (sweet and low bitterness). Increasing exposure to a variety of vegetables may help increase the persistently low vegetable consumption patterns of children.
Systematic reviews and meta-analyses suggest that behaviour change interventions have modest effect sizes, struggle to demonstrate effect in the long term and that there is high heterogeneity between studies. Such interventions take huge effort to design and run for relatively small returns in terms of changes to behaviour.
So why do behaviour change interventions not work and how can we make them more effective? This article offers some ideas about what may underpin the failure of behaviour change interventions. We propose three main reasons that may explain why our current methods of conducting behaviour change interventions struggle to achieve the changes we expect: 1) our current model for testing the efficacy or effectiveness of interventions tends to a mean effect size. This ignores individual differences in response to interventions; 2) our interventions tend to assume that everyone values health in the way we do as health professionals; and 3) the great majority of our interventions focus on addressing cognitions as mechanisms of change. We appeal to people’s logic and rationality rather than recognising that much of what we do and how we behave, including our health behaviours, is governed as much by how we feel and how engaged we are emotionally as it is with what we plan and intend to do.
Drawing on our team’s experience of developing multiple interventions to promote and support health behaviour change with a variety of populations in different global contexts, this article explores strategies with potential to address these issues.
Clinical diagnostics in sudden onset disasters have historically been limited. We set out to design, implement, and evaluate a mobile diagnostic laboratory accompanying a type 2 emergency medical team (EMT) field hospital.
Available diagnostic platforms were reviewed and selected against in field need. Platforms included HemoCue301/WBC DIFF, i-STAT, BIOFIRE FILMARRAY multiplex rt-PCR, Olympus BX53 microscopy, ABO/Rh grouping, and specific rapid diagnostic tests. This equipment was trialed in Katherine, Australia, and Dili, Timor-Leste.
During the initial deployment, an evaluation of FilmArray tests was successful using blood culture identification, gastrointestinal, and respiratory panels. HemoCue301 (n = 20) hemoglobin values were compared on Sysmex XN 550 (r = 0.94). HemoCue WBC DIFF had some variation, dependent on the cell, when compared with Sysmex XN 550 (r = 0.88-0.16). i-STAT showed nonsignificant differences against Vitros 250. Further evaluation of FilmArray in Dili, Timor-Leste, diagnosed 117 pathogens on 168 FilmArray pouches, including 25 separate organisms on blood culture and 4 separate cerebrospinal fluid pathogens.
This mobile laboratory represents a major advance in sudden onset disaster. Setup of the service was quick (< 24 hr) and transport to site rapid. Future deployment in fragmented health systems after sudden onset disasters with EMT2 will now allow broader diagnostic capability.
We designed, developed, and implemented a new hospital-based health technology assessment (HB-HTA) program called Smart Innovation. Smart Innovation is a decision framework that reviews and makes technology adoption decisions. Smart Innovation was meant to replace the fragmented and complex process of procurement and adoption decisions at our institution. Because use of new medical technologies accounts for approximately 50 percent of the growth in healthcare spending, hospitals and integrated delivery systems are working to develop better processes and methods to sharpen their approach to adoption and management of high cost medical innovations.
The program has streamlined the decision-making process and added a robust evidence review for new medical technologies, aiming to balance efficiency with rigorous evidence standards. To promote system-wide adoption, the program engaged a broad representation of leaders, physicians, and administrators to gain support.
To date, Smart Innovation has conducted eleven HB-HTAs and made clinician-led adoption decisions that have resulted in over $5 million dollars in cost avoidance. These are comprised of five laboratory tests, three software-assisted systems, two surgical devices, and one capital purchase.
Smart Innovation has achieved cost savings, avoided uncertain or low-value technologies, and assisted in the implementation of new technologies that have strong evidence. The keys to its success have been the program's collaborative and efficient decision-making systems, partnerships with clinicians, executive support, and proactive role with vendors.
Clinical diagnostics in sudden-onset disasters (SOD) has historically been limited. With poor supply routes, lack of a cold chain, and challenging environmental conditions, many diagnostic platforms are unsuitable.
We set out to design, implement, and evaluate a mobile diagnostic laboratory accompanying a type II emergency medical team (EMT) field hospital.
Available diagnostic platforms were reviewed and selected against infield need. Platforms included HemoCue301/WBC DIFF, i-STAT, BioFire multiplex RT-PCR, Olympus BX53 microscopy, ABO/Rh Grouping, and specific rapid diagnostic tests (RDT). This equipment was trialed in Katherine, Australia and Dili, Timor-Leste.
During the initial deployment, validation of FilmArray rt-PCR multiplex tests was successful on blood culture, gastrointestinal, and respiratory panels. HemoCue301 (n = 20) haemoglobin values were compared on Sysmex XN 550 (r = 0.94). Analysis of HemoCue WBC DIFF samples had some variation when compared to Sysmex XN 550, (neutrophils r = 0.88, lymphocytes r = 0.49, monocytes r = 0.16, eosinophils r = 0.70, basophils r = 0.16). i-STAT showed non-significant differences for CHEM4 (n=10), CG8 (n = 10), and TnI (n = 5) against Vitros 250. A further trial of BioFire rt-PCR testing in Dili, Timor-Leste diagnosed 117 causative pathogens on 168 FilmArray test cartridges.
This mobile laboratory represents a major advance in SOD. Setup of the service was quick (<24hr) and transport to site rapidly. Training was simple and performance consistent. Future deployment in fragmented health systems after sudden onset disasters with EMT2 will now allow broader diagnostics.
Following stage 1 palliation, delayed sternal closure may be used as a technique to enhance thoracic compliance but may also prolong the length of stay and increase the risk of infection.
We reviewed all neonates undergoing stage 1 palliation at our institution between 2010 and 2017 to describe the effects of delayed sternal closure.
During the study period, 193 patients underwent stage 1 palliation, of whom 12 died before an attempt at sternal closure. Among the 25 patients who underwent primary sternal closure, 4 (16%) had sternal reopening within 24 hours. Among the 156 infants who underwent delayed sternal closure at 4 [3,6] days post-operatively, 11 (7.1%) had one or more failed attempts at sternal closure. Patients undergoing primary sternal closure had a shorter duration of mechanical ventilation and intensive care unit length of stay. Patients who failed delayed sternal closure had a longer aortic cross-clamp time (123±42 versus 99±35 minutes, p=0.029) and circulatory arrest time (39±28 versus 19±17 minutes, p=0.0009) than those who did not fail. Failure of delayed sternal closure was also closely associated with Technical Performance Score: 1.3% of patients with a score of 1 failed sternal closure compared with 18.9% of patients with a score of 3 (p=0.0028). Among the haemodynamic and ventilatory parameters studied, only superior caval vein saturation following sternal closure was different between patients who did and did not fail sternal closure (30±7 versus 42±10%, p=0.002). All patients who failed sternal closure did so within 24 hours owing to hypoxaemia, hypercarbia, or haemodynamic impairment.
When performed according to our current clinical practice, sternal closure causes transient and mild changes in haemodynamic and ventilatory parameters. Monitoring of SvO2 following sternal closure may permit early identification of patients at risk for failure.
The optimal approach to unifocalisation in pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries (pulmonary artery/ventricular septal defect/major aortopulmonary collaterals) remains controversial. Moreover, the impact of collateral vessel disease burden on surgical decision-making and late outcomes remains poorly defined. We investigated our centre’s experience in the surgical management of pulmonary artery/ventricular septal defect/major aortopulmonary collaterals.
Materials and methods
Between 1996 and 2015, 84 consecutive patients with pulmonary artery/ventricular septal defect/major aortopulmonary collaterals underwent unifocalisation. In all, 41 patients received single-stage unifocalisation (Group 1) and 43 patients underwent multi-stage repair (Group 2). Preoperative collateral vessel anatomy, branch pulmonary artery reinterventions, ventricular septal defect status, and late right ventricle/left ventricle pressure ratio were evaluated.
Median follow-up was 4.8 compared with 5.7 years for Groups 1 and 2, respectively, p = 0.65. Median number of major aortopulmonary collaterals/patient was 3, ranging from 1 to 8, in Group 1 compared with 4, ranging from 1 to 8, in Group 2, p = 0.09. Group 2 had a higher number of lobar/segmental stenoses within collateral vessels (p = 0.02). Group 1 had fewer catheter-based branch pulmonary artery reinterventions, with 5 (inter-quartile range from 1 to 7) per patient, compared with 9 (inter-quartile range from 4 to 14) in Group 2, p = 0.009. Among patients who achieved ventricular septal defect closure, median right ventricle/left ventricle pressure was 0.48 in Group 1 compared with 0.78 in Group 2, p = 0.03. Overall mortality was 6 (17%) in Group 1 compared with 9 (21%) in Group 2.
Single-stage unifocalisation is a promising repair strategy in select patients, achieving low rates of reintervention for branch pulmonary artery restenosis and excellent mid-term haemodynamic outcomes. However, specific anatomic substrates of pulmonary artery/ventricular septal defect/major aortopulmonary collaterals may be better suited to multi-stage repair. Preoperative evaluation of collateral vessel calibre and function may help inform more patient-specific surgical management.
Truncus arteriosus and tetralogy of Fallot with pulmonary atresia may be difficult to differentiate prenatally. We present a case that, on newborn echocardiography, angiography, and intraoperative inspection, shared features of both diagnoses.
We report on an influenza B outbreak in an Ontario long-term care facility in which 2 immunized residents receiving oseltamivir prophylaxis for at least 5 days developed laboratory-confirmed influenza B infection. All isolates were tested for the most common oseltamivir resistance, and none of them had resistance identified.
No published information is available on the foraging ecology and choice of feeding habitat of New Zealand’s rarest breeding bird: the New Zealand Fairy Tern (NZFT) Sternula nereis davisae. To address this gap, we conducted an assessment of the largest remaining breeding population at Mangawhai Harbour, Northland, New Zealand, during the chick-rearing period of the 2010/2011 breeding season. We combined visual tracking of birds with prey surveys and stable isotope analyses, and we present the first quantitative assessment of NZFT foraging. We recorded 405 foraging dives that show NZFT foraging habitat includes the water edges, shallow channels, and pools on the tidal flats of mangrove-lined (Avicennia marina var. resinifera) parts of the estuary; tidal pools on mud- and sandflats in the mid-estuary and lower harbour; the shallow margins of the dredged main channel in the lower harbour; the oxbow lagoons on the sand spit; and coastal shallows. Our study identifies the mangrove-lined highly tidal and shallow mid-estuary and the lagoon on the sand spit as foraging hotspots for the Mangawhai breeding population of the NZFT. The prey survey employed a seine-net sampling method at identified NZFT foraging sites and yielded 4,367 prey-sized fish of 11 species, two of which had not previously been reported in Mangawhai Harbour, as well as numerous shrimps. The most abundant fish were gobies of the genus Favonigobius. Our stable isotope results highlight gobies as the most important prey for NZFT chick rearing, also indicating that flounder Rhombosolea sp. contribute to NZFT diet. We raise the possibility that shrimps may also constitute a substantial diet component for NZFT, potentially providing up to 21% of diet mass for adult birds. While our results provide a first basis to understanding the feeding ecology of NZFT during their breeding season in order to facilitate conservation planning, further research is required to address inter-annual variation and to identify key foraging grounds for this Critically Endangered bird at other breeding sites.
This study assessed the impact of Pinus radiata (D. Don) genetically modified (GM) by biolistic insertion of the LEAFY and nptII genes on rhizosphere microbial communities of field grown trees. Rhizosphere soil was sampled quarterly for two consecutive years. A culture-independent approach was used to characterise the microbial communities based on PCR and denaturing gradient gel electrophoresis (DGGE) of 16S/18S rDNA gene fragments, and internal transcribed spacer (ITS) fragments amplified from total rhizosphere DNA. Trees from two independent transformation events were sampled, together with non-modified control trees of the same parental genotype. DGGE profiles of rhizosphere general Bacteria did not differ between GM and control trees with one exception (summer 2006 sample). For Alphaproteo- and Actinobacteria, significant differences between treatments were detected in one out of eight samplings. Small seasonal shifts could be detected in all bacterial communities. General fungal and ectomycorrhizal communities did not differ significantly between GM and control trees with the exception of summer 2006, when ectomycorrhizal communities associated with GM trees from one transformation event differed from those associated with control trees. Small seasonal shifts of general fungal and ectomycorrhizal communities were seen over the two-year sampling period. More detailed analysis of microbial communities at one sampling date (using amplified rDNA restriction analysis (ARDRA) and 16S/18S rDNA sequencing) revealed significant differences in four ARDRA groups between one GM treatment and the control (bacteria), and significant differences in one ARDRA group between the two GM treatments (fungi). When data from all sampling dates are considered together, the low incidence of statistical differences in the microbial communities associated with the genetically modified and control trees suggests that there was no significant impact of this genetic modification on rhizosphere microbial communities.
Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is curative for many pediatric diseases. Most children transplanted for cancer, severe combined immunodeficiency syndrome, aplastic anemia, sickle cell anemia, thalassemia, and certain metabolic disorders are expected to survive. This has led to an ever-increasing population of longterm survivors. Recent studies demonstrate the major impact that late effects have on the individual survivors and society as a whole.
Chronic Graft versus Host Disease
Chronic graft versus host disease (cGVHD) is the most significant nonrelapse cause of morbidity and mortality following stem cell transplantation (SCT) for malignancies. Although the rates of cGVHD are lower in children than adults, the incidence of cGVHD in children has increased in association with the use of peripheral blood and unrelated donors. The manifestations and mechanisms of cGVHD in children and adults appear similar, although the natural history and response to therapy are different. cGVHD and its current treatments have a spectrum of deleterious effects on normal growth and organ development in children. In addition, the impact of prolonged immunosuppression is of particular concern in childhood, a critical time of immunologic development in response to common infections and immunizations.
Data and research focused on cGVHD in pediatrics are limited. Most studies are small and are often grouped into larger adult series. In comparison to adults, relatively small numbers of children and adolescents undergo transplantation.
The attitudes of women of reproductive age to IVF therapy and human embryo research were investigated. A questionnaire was given to 1920 consecutive women attending clinics for family planning (1050), ante-natal care (705) and infertility (165). This paper reports the analysis of 1701 returned questionnaires, all from women of reproductive age. The great majority (94%) were in favour of IVF treatment. Sixty-seven percent approved of research on human embryos up to 14 days to improve IVF treatment, and a further 10% supported research on embryos designed to avoid birth defects. The majority (79%) thought women should be allowed to donate ova for research. The social characteristics of the infertility group were similar to those of the ante-natal group except for lower parity. In the family planning and ante-natal groups attitudes were not related to age, social class or parity, but were influenced by religious beliefs.
Screening instruments for autistic-spectrum disorders have not been compared in the same sample.
To compare the Social Communication Questionnaire (SCQ), the Social Responsiveness Scale (SRS) and the Children's Communication Checklist (CCC).
Screen and diagnostic assessments on 119 children between 9 and 13 years of age with special educational needs with and without autistic-spectrum disorders were weighted to estimate screen characteristics for a realistic target population.
The SCQ performed best (area under receiver operating characteristic curve (AUC)=0.90; sensitivity 0.86; specificity 0.78). The SRS had a lower AUC (0.77) with high sensitivity (0.78) and moderate specificity (0.67). The CCC had a high sensitivity but lower specificity (AUC=0.79; sensitivity 0.93; specificity 0.46). The AUC of the SRS and CCC was lower for children with IQ < 70. Behaviour problems reduced specificity for all three instruments.
The SCQ, SRS and CCC showed strong to moderate ability to identify autistic-spectrum disorder in this at-risk sample of school-age children with special educational needs.