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First-degree relatives of patients with psychotic disorder have higher levels of polygenic risk (PRS) for schizophrenia and higher levels of intermediate phenotypes.
We conducted, using two different samples for discovery (n = 336 controls and 649 siblings of patients with psychotic disorder) and replication (n = 1208 controls and 1106 siblings), an analysis of association between PRS on the one hand and psychopathological and cognitive intermediate phenotypes of schizophrenia on the other in a sample at average genetic risk (healthy controls) and a sample at higher than average risk (healthy siblings of patients). Two subthreshold psychosis phenotypes, as well as a standardised measure of cognitive ability, based on a short version of the WAIS-III short form, were used. In addition, a measure of jumping to conclusion bias (replication sample only) was tested for association with PRS.
In both discovery and replication sample, evidence for an association between PRS and subthreshold psychosis phenotypes was observed in the relatives of patients, whereas in the controls no association was observed. Jumping to conclusion bias was similarly only associated with PRS in the sibling group. Cognitive ability was weakly negatively and non-significantly associated with PRS in both the sibling and the control group.
The degree of endophenotypic expression of schizophrenia polygenic risk depends on having a sibling with psychotic disorder, suggestive of underlying gene–environment interaction. Cognitive biases may better index genetic risk of disorder than traditional measures of neurocognition, which instead may reflect the population distribution of cognitive ability impacting the prognosis of psychotic disorder.
The Emerald project's focus is on how to strengthen mental health systems in six low- and middle-income countries (LMICs) (Ethiopia, India, Nepal, Nigeria, South Africa and Uganda). This was done by generating evidence and capacity to enhance health system performance in delivering mental healthcare.
A common problem in scaling-up interventions and strengthening mental health programmes in LMICs is how to transfer research evidence, such as the data collected in the Emerald project, into practice.
To describe how core elements of Emerald were implemented and aligned with the ultimate goal of strengthening mental health systems, as well as their short-term impact on practices, policies and programmes in the six partner countries.
We focused on the involvement of policy planners, managers, patients and carers.
Over 5 years of collaboration, the Emerald consortium has provided evidence and tools for the improvement of mental healthcare in the six LMICs involved in the project. We found that the knowledge transfer efforts had an impact on mental health service delivery and policy planning at the sites and countries involved in the project.
This approach may be valid beyond the mental health context, and may be effective for any initiative that aims at implementing evidence-based health policies for health system strengthening.
The University of São Paulo Twin Panel (Painel USP de Gêmeos), based at the Institute of Psychology of the University of São Paulo, started formally in 2017. Our registry is new, but in only two years of formal existence, it comprises a volunteer sample of 4826 registered individuals (98% twins and 2% higher-order multiples), recruited at the University of São Paulo and by social media campaigns. Our main aim is to conduct and promote research with twins on psychological processes and behavior. The University of São Paulo is the largest higher education and research institution in South America, and the Painel USP de Gêmeos has great potential for fostering research on twin-related issues from a psychological perspective in Brazil and South America.
We investigated whether variation of the sheep Growth Hormone Receptor (GHR), Growth Hormone Releasing Hormone Receptor (GHRHR) and Insulin-Like Growth Factor 1 (IGF1) genes were associated with milk coagulation properties (MCP) in sheep. The GHR, GHRHR and IGF1 genes are part of the GH system, which is known to modulate metabolism, growth and reproduction as well as mammogenesis and galactopoiesis in dairy species. A total of 380 dairy Sarda sheep were genotyped for 36 SNPs mapping to these three genes. Traditional MCP were measured as rennet coagulation time (RCT), curd-firming time (k20) and curd firmness at 30 m (a30). Modeling of curd firming over time (CFt) was based on a 60 m lactodynamographic test, generating a total of 240 records of curd firmness (mm) for each milk sample. The model parameters obtained included: the rennet coagulation time as a result of modeling all data available (RCTeq, min); the asymptotic potential value of curd firmness (CFP, mm) at an infinite time; the CF instant rate constant (kCF, %/min); the syneresis instant rate constant (kSR, %/min); the maximum value of CF (CFmax, mm) and the time at achievement of CFmax (tmax, min). Statistical analysis revealed that variation of the GHR gene was significantly associated with RCT, kSR and CFP (P < 0.05). No other significant associations were detected. These findings may be useful for the dairy industry, as well as for selection programs.
Textual idea data from online crowdsourcing contains rich information of the concepts that underlie the original ideas and can be recombined to generate new ideas. But representing such information in a way that can stimulate new ideas is not a trivial task, because crowdsourced data are often vast and in unstructured natural languages. This paper introduces a method that uses natural language processing to summarize a massive number of idea descriptions and represents the underlying concept space as word clouds with a core-periphery structure to inspire recombinations of such concepts into new ideas. We report the use of this method in a real public-sector-sponsored project to explore ideas for future transportation system design. Word clouds that represent the concept space underlying original crowdsourced ideas are used as ideation aids and stimulate many new ideas with varied novelty, usefulness and feasibility. The new ideas suggest that the proposed method helps expand the idea space. Our analysis of these ideas and a survey with the designers who generated them shed light on how people perceive and use the word clouds as ideation aids and suggest future research directions.
Apolipoprotein E (APOE) E4 is the main genetic risk factor for Alzheimer’s disease (AD). Due to the consistent association, there is interest as to whether E4 influences the risk of other neurodegenerative diseases. Further, there is a constant search for other genetic biomarkers contributing to these phenotypes, such as microtubule-associated protein tau (MAPT) haplotypes. Here, participants from the Ontario Neurodegenerative Disease Research Initiative were genotyped to investigate whether the APOE E4 allele or MAPT H1 haplotype are associated with five neurodegenerative diseases: (1) AD and mild cognitive impairment (MCI), (2) amyotrophic lateral sclerosis, (3) frontotemporal dementia (FTD), (4) Parkinson’s disease, and (5) vascular cognitive impairment.
Genotypes were defined for their respective APOE allele and MAPT haplotype calls for each participant, and logistic regression analyses were performed to identify the associations with the presentations of neurodegenerative diseases.
Our work confirmed the association of the E4 allele with a dose-dependent increased presentation of AD, and an association between the E4 allele alone and MCI; however, the other four diseases were not associated with E4. Further, the APOE E2 allele was associated with decreased presentation of both AD and MCI. No associations were identified between MAPT haplotype and the neurodegenerative disease cohorts; but following subtyping of the FTD cohort, the H1 haplotype was significantly associated with progressive supranuclear palsy.
This is the first study to concurrently analyze the association of APOE isoforms and MAPT haplotypes with five neurodegenerative diseases using consistent enrollment criteria and broad phenotypic analysis.
Transcatheter implantation of pulmonary balloon-expandable stent-valves requires pre-stenting of the right ventricular outflow tract with large calibre stents. To increase awareness of the associated risks of this part of transcatheter pulmonary valve replacement therapy, we report potential fatal complications during the implantation of AndraStents® in the right ventricular outflow tract in six cases from five different European institutions and their management.
Method and result:
We present a retrospective case series analysis looking at the time period from 2013 to 2018. Of 127 AndraStents® implanted in the right ventricular outflow tract, in six patients, age from 13 to 71 years, a misconfiguration of the AndraStent® occurred forming a “diabolo”-configuration. During inflation of the balloon, the stent showed extreme “dog-boning”, an expansion of the stent at both ends with the middle part remaining unexpanded. This led to rupture of the balloon and loss of manoeuvrability in four patients. Out of the total six cases, in four patients the stent was eventually expanded with high-pressure balloons, and in one case the stent was surgically retrieved. In one patient, in whom a percutaneous retrieval of the embolised stent was attempted, a fatal bleeding occurred.
Pre-stenting of the right ventricular outflow tract by AndraStents® can lead to misconfiguration of the stent with potentially fatal complications. Rescue strategies of misconfigured stents include stent inflation and placement with high pressure non-compliant balloons or surgical backup. Interventional retrieval measures of AndraStents® cannot be advised.
A national need is to prepare for and respond to accidental or intentional disasters categorized as chemical, biological, radiological, nuclear, or explosive (CBRNE). These incidents require specific subject-matter expertise, yet have commonalities. We identify 7 core elements comprising CBRNE science that require integration for effective preparedness planning and public health and medical response and recovery. These core elements are (1) basic and clinical sciences, (2) modeling and systems management, (3) planning, (4) response and incident management, (5) recovery and resilience, (6) lessons learned, and (7) continuous improvement. A key feature is the ability of relevant subject matter experts to integrate information into response operations. We propose the CBRNE medical operations science support expert as a professional who (1) understands that CBRNE incidents require an integrated systems approach, (2) understands the key functions and contributions of CBRNE science practitioners, (3) helps direct strategic and tactical CBRNE planning and responses through first-hand experience, and (4) provides advice to senior decision-makers managing response activities. Recognition of both CBRNE science as a distinct competency and the establishment of the CBRNE medical operations science support expert informs the public of the enormous progress made, broadcasts opportunities for new talent, and enhances the sophistication and analytic expertise of senior managers planning for and responding to CBRNE incidents.
To determine the prevalence of low scores for two neuropsychological tests with five total scores that evaluate learning and memory functions.
N = 5402 healthy adults from 11 countries in Latin America and the commonwealth of Puerto Rico were administered the Rey–Osterrieth Complex Figure (ROCF) and the Hopkins Verbal Learning Test (HVLT-R). Two-thirds of the participants were women, and the average age was 53.5 ± 20.0 years. Z-scores were calculated for ROCF Copy and Memory scores and HVLT-R Total Recall, Delayed Recall, and Recognition scores, adjusting for age, age2, sex, education, and interaction variables if significant for the given country. Each Z-score was converted to a percentile for each of the five subtest scores. Each participant was categorized based on his/her number of low scoring tests in specific percentile cutoff groups (25th, 16th, 10th, 5th, and 2nd).
Between 57.3% (El Salvador) and 64.6% (Bolivia) of the sample scored below the 25th percentile on at least one of the five scores. Between 27.1% (El Salvador) and 33.9% (Puerto Rico) scored below the 10th percentile on at least one of the five subtests. Between 5.9% (Chile, El Salvador, Peru) and 10.3% (Argentina) scored below the 2nd percentile on at least one of the five scores.
Results are consistent with other studies that found that low scores are common when multiple neuropsychological outcomes are evaluated in healthy individuals. Clinicians should consider the higher probability of low scores when evaluating learning and memory using various sets of scores to reduce false-positive diagnoses of cognitive deficits.
Dietary guidelines are an essential policy tool for facilitating optimal dietary patterns and healthy eating behaviours. We report: (i) the methodological approach adopted for developing the National Dietary Guidelines of Greece (NDGGr) for Infants, Children and Adolescents; and (ii) the guidelines for children aged 1–18 years.
An evidence-based approach was employed to develop food-based recommendations according to the methodologies of the WHO, FAO and European Food Safety Authority. Physical activity recommendations were also compiled. Food education, healthy eating tips and suggestions were also provided.
The NDGGr encompass food-based nutritional and physical activity recommendations for promoting healthy dietary patterns and eating behaviours and secondarily to serve as a helpful tool for the prevention of childhood overweight and obesity.
The NDGGr include food-based recommendations, food education and health promotion messages regarding: (i) fruits; (ii) vegetables; (iii) milk and dairy products; (iv) cereals; (v) red and white meat; (vi) fish and seafood; (vii) eggs; (viii) legumes; (ix) added lipids, olives, and nuts; (x) added sugars and salt; (xi) water and beverages, and (xii) physical activity. A Nutrition Wheel, consisting of the ten most pivotal key messages, was developed to enhance the adoption of optimal dietary patterns and a healthy lifestyle. The NDGGr additionally provide recommendations regarding the optimal frequency and serving sizes of main meals, based on the traditional Greek diet.
As a policy tool for promoting healthy eating, the NDGGr have been disseminated in public schools across Greece.
To examine the frequency of television (TV) food and beverage advertisements (F&B ads) to which children (4–11 years) are likely exposed and the nutrient profile of products advertised.
TV broadcasting between September and November 2016 was recorded (288 h of children’s programming; 288 h of family programming) resulting in 8980 advertisements, of which 1862 were F&B ads. Of those, 1473 could be classified into one of the seventeen food groups, and into permitted/non-permitted according to the WHO-EU nutrient profile model. Persuasive marketing techniques used were also identified.
TV programming was recorded for four weekdays and four weekend days, between 06.00 and 00.00 hours (576 total hours), for four channels (two national and two cable), in Costa Rica.
Mean (sd) number of F&B ads/h was greater in cable than national channels (3·7 (0·4) v. 2·8 (0·4), P < 0·05) and during children’s peak viewing hours (4·4 (0·4) v. 2·9 (0·3)). Of F&B ads classified with WHO-EU nutrient profile model (n 1473, 71·1 %), 91·1 % were non-permitted to be marketed to children. Categories most frequently advertised were ready-made/convenience foods (16 %), chocolates/confectionery/desserts (15 %), breakfast cereals (14 %), beverages (15 %), edible ices (9 %) and salty snacks (8 %). Non-permitted F&B ads were more likely to use promotional characters, brand benefit claims, and nutrition and health claims than permitted F&B ads.
Children watching popular TV channels in Costa Rica are exposed to a high number of unhealthy F&B ads daily. Our findings help justify the need for regulatory actions by national authorities.
Oriented attachment (OA) is a particle-based crystallization pathway in which nanocrystals self-assemble in solution and attach along certain crystallographic direction often forming highly organized three-dimensional crystal morphologies. The pathway offers the potential for a general synthetic approach of hierarchical nanomaterials, in which multiscale structural control is achieved by manipulating the interfacial nucleation and self-assembly of nanoscale building blocks. Here, the current status of the development of a predictive theoretical framework for modeling crystallization by OA is reviewed. A particular emphasis is made on recent developments in understanding the microscopic details of solvent-mediated forces that drive nanocrystal reorientation and alignment for face-selective attachment. Interactions arising from the correlated solvent dynamics at particle interfaces emerge as the main sources of long-range face-specific interparticle forces and short-range torque for fine particle alignment into lattice matching configuration. These findings shift the focus of the experimental and theoretical research of OA onto the detailed study of interfacial solvent structure and dynamics.
We developed the Long-term Early Development Research (LEADER) project to investigate the development of children with CHD and/or after cardiopulmonary resuscitation. Both populations are at risk for delays in motor, cognitive, and language development. However, few studies to date have investigated the longitudinal development in these children.
To establish a clinical research unit, we planned three studies: a cross-sectional study in children after cardiopulmonary resuscitation (LEADER-REA Pilot Study), a longitudinal study in children after cardiopulmonary resuscitation, with a focus on evaluating various biomarkers as predictors for developmental outcome (LEADER-CPR study), and a longitudinal study in children with ventricular septal defect, tetralogy of Fallot, or transposition of the great arteries after cardiac surgery (LEADER-CHD study).
Implementation of all three LEADER studies was successful and study protocols were conducted as planned. Findings from the LEADER-REA Pilot study have been recently published and data collection for both prospective trials is ongoing. Descriptive analysis of the first 20 assessments of the LEADER-CHD study showed no severe deficits in overall cognitive, motor, and language developments in the children.
Children with CHD and/or after cardiopulmonary resuscitation are at risk for developmental delay. Therefore, a detailed developmental assessment is necessary as a pre-requisite for individual developmental support. Our LEADER project has been shown to be feasible in a clinical setting and is the first step towards the establishment of a clinical research unit in our clinic with a focus on longitudinal research.
We used two sunflower genotypes displaying pericarp-imposed dormancy at high incubation temperatures (i.e. 30°C) to investigate the role of the pericarp as a limitation to oxygen availability to the embryo (hypoxia), and its impact on embryo abscisic acid (ABA) content and sensitivity to ABA. Results showed that both genotypes displayed very different oxygen threshold values for inhibition of embryo germination when incubation was performed at 30°C. Expression of dormancy in one genotype was therefore related to exacerbated embryo sensitivity to hypoxia, whereas in the other genotype, the pericarp appeared to act as a more severe restraint to oxygen entry. Increased sensitivity to hypoxia was, in part, related to increased sensitivity to ABA, but not to alterations in ABA metabolism. The activity of pericarp-microbial communities (bacteria and fungi) at high temperatures was also assessed as a potential determinant of hypoxia to the embryo. Oxygen consumption in pericarps incubated at 30°C was attenuated with antibiotics, which concomitantly promoted achene germination. In agreement with the observed more severe oxygen deprivation to the embryo exerted by the pericarp, the bacterial load in the pericarp was significantly higher in the commercial hybrid than in the inbred line; however, the application of antibiotics strongly reduced the bacterial colony counts for each genotype. Different bacterial and fungal communities, assessed through their profiles of carbon-source utilization, were determined between genotypes and after treatment with antibiotics. This work highlights the relationship between enhancement of sensitivity to hypoxia with incubation temperature and seed dormancy expression, and suggests that microbial activity might be part of the mechanism through which hypoxia is imposed.
To determine the effectiveness and ease of use of an electronic reminder device in reducing urinary catheterization duration.
A randomized controlled trial with a cross-sectional anonymous online survey and focus group.
Ten wards in an Australian hospital.
All hospitalized patients with a urinary catheter.
An electronic reminder system, the CATH TAG, applied to urinary catheter bags to prompt removal of urinary catheters.
Catheterization duration and perceptions of nurses about the ease of use.
A Cox proportional hazards model was used to assess the rate of removal of catheters. A phenomenological approach underpinned data collection and analysis methods associated with the focus group.
In total, 1,167 patients with a urinary catheter were included. The mean durations in control and intervention phases were 5.51 days (95% confidence interval [CI], 4.9–6.2) and 5.08 days (95% CI, 4.6–5.6), respectively. For patients who had a CATH TAG applied, the hazard ratio (HR) was 1.02 (95% CI, 0.91–1.14; P = .75). A subgroup analysis excluded patients in an intensive care unit (ICU), and the use of the CATH TAG was associated with a 23% decrease in the mean, from 5.00 days (95% CI, 4.44–5.56) to 3.84 days (95% CI, 3.47–4.21). Overall, 82 nurses completed a survey and 5 nurses participated in a focus group. Responses regarding the device were largely positive, and benefits for patient care were identified.
The CATH TAG did not reduce the duration of catheterization, but potential benefits in patients outside the ICU were identified. Electronic reminders may be useful to aid prompt removal of urinary catheters in the non-ICU hospital setting.
OBJECTIVES/SPECIFIC AIMS: The Title V Cooperative Project of the UPR-MSC and UCC has demonstrated that educational interventions in CTR are very effective in fulfilling the objective of promoting awareness, stimulate interest and increase the knowledge, skills and opportunities, to US, GS and F (participants) in CTR. METHODS/STUDY POPULATION: The training sessions (TS) offered through the Title V initiative have become an engine for the involvement in CTR for participants from higher education institutions island-wide. TS consisted of cycles –level 1 and 2–: Research Education Towards Opportunities (RETO,I,II) and Mentorship Offering Training Opportunities for Research (MOTOR,I,II), ending in the formation of the Clinical and Translational Mentoring Teams (CTMT)s, in which participants, paired by their research interests, were mentored by a well-established CT researchers in their research project, to be developed in the Intensive Development and Experiences in Advancement of Research and Increased Opportunities (IDEARIO). RESULTS/ANTICIPATED RESULTS: Up to date, 4 TS-level 1 and 2 TS-level 2 were offered. Eighty (80) participants completed level 1, distributed: 42 (52.5%) US in RETO, 21 (26.25%) GS and 17 (21.25%) F in MOTOR and 17 participants completed level 2, distributed: 4 (23.52%) US in RETO, 6 (25.29%) GS and 7 (41.17%) F in MOTOR. From which, 15, with 8 CT researchers, formed 5 CTMTs in different research areas – cardio, neuro, liver, renal, Zika–. DISCUSSION/SIGNIFICANCE OF IMPACT: US, GS and F were integrated in the active process throughout educational levels for their development in CTR.
OBJECTIVES/SPECIFIC AIMS: This project will present the analysis assessing which of the admission criteria is a useful tool to predict completion of all program requirements METHODS/STUDY POPULATION: All admission criteria from graduates (2003-2016) will be analyzed. Outcomes will be measured according to the scholar’s performance during the two-year of studies and its success in completing on time all program requirements. Descriptive and inferential statistical analyses will be used to determine potential association in each criteria and in the total score. RESULTS/ANTICIPATED RESULTS: We expect that the PPC and total score will be correlated with a higher rate of successful outcomes. DISCUSSION/SIGNIFICANCE OF IMPACT: A systematic admission process should lead to timely program completion.
A specialized dealloying technique called thermal dealloying was developed over 10 years ago for certain biomedical materials. This method is not widely used for synthesizing nanoporous metals. However, it offers advantages over conventional dealloying processes for fabrication of nanoporous structures, and is highly suitable for refractory metals that may be susceptible to oxidation during chemical/electrochemical dealloying and liquid metal dealloying. In this study, nanoporous structures were successfully fabricated from magnesium-based precursor alloys via sublimation of magnesium at elevated temperature under vacuum conditions. Different refractory metal diffusion rates affect the resulting density and amount of retained magnesium in each nanoporous material.
The genus Clinostomoides Dollfus, 1950 was erected to accommodate a single worm from Ardea goliath sampled in the Belgian Congo. The specimen was distinguished from other clinostomids by its large size and posterior genitalia. In the following years, metacercariae of Clinostomoides brieni, have been described in Clarias spp. in southern and western Africa. A few authors have referred to Clinostomum brieni, but all such usages appear to be lapsus calami, and the validity of Clinostomoides remains widely accepted. In this study our aim was: position C. brieni among the growing clinostomids molecular database, and redescribe the species with emphasis on characters that have emerged as important in recent work. We sequenced two nuclear (partial 18S and ITS) and one mitochondrial marker (partial cytochrome c oxidase I) and studied morphology in metacercariae from hosts and localities likely to harbour the type species (Clarias spp., Democratic Republic of the Congo, South Africa). Phylogenetic analysis shows C. brieni belongs within Clinostomum Leidy, 1856. We therefore transfer C. brieni to Clinostomum, amend the diagnosis for the genus Clinostomum and provide a critical analysis of other species in Clinostomoides, all of which we consider species inquirendae, as they rest on comparisons of different developmental stages.
Depression in older people is likely to become a growing global health problem with aging populations. Significant cultural variation exists in beliefs about depression (terminology, symptomatology, and treatments) but data from sub-Saharan Africa are minimal. Low-resource interventions for depression have been effective in low-income settings but cannot be utilized without accurate diagnosis. This study aimed to achieve a shared understanding of depression in Tanzania in older people.
Using a qualitative design, focus groups were conducted with participants aged 60 and over. Participants from rural villages of Kilimanjaro, Tanzania, were selected via randomized sampling using census data. Topic guides were developed including locally developed case vignettes. Transcripts were translated into English from Swahili and thematic analysis conducted.
Ten focus groups were held with 81 participants. Three main themes were developed: a) conceptualization of depression by older people and differentiation from other related conditions (“too many thoughts,” cognitive symptoms, affective and biological symptoms, wish to die, somatic symptoms, and its difference to other concepts); b) the causes of depression (inability to work, loss of physical strength and independence, lack of resources, family difficulties, chronic disease); c) management of depression (love and comfort, advice, spiritual support, providing help, medical help).
This research expands our understanding of how depression presents in older Tanzanians and provides information about lay beliefs regarding causes and management options. This may allow development of culturally specific screening tools for depression that, in turn, increase diagnosis rates, support accurate diagnosis, improve service use, and reduce stigma.