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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.
Ebstein anomaly is a rare congenital heart defect (CHD) that, when severe, requires corrective surgery or other catheter-based intervention in the first year of life. Due to its rarity, risk factors for Ebstein anomaly remain largely unknown. Using national data, we examined 18 potential risk factors for Ebstein anomaly.
Using 1997–2011 data from the National Birth Defects Prevention Study, a population-based case–control study, we calculated crude and adjusted odds ratios and 95% confidence intervals for paternal age, maternal socio-demographics, reproductive history, and modifiable risk factors, and infant characteristics reported by mothers of 135 Ebstein anomaly cases and 11,829 controls.
Mothers of Ebstein anomaly cases had 4.1 (95% confidence interval: 1.8, 9.5) times the odds of reporting a family history of CHD compared with mothers of controls. Ebstein anomaly was associated with maternal second-hand cigarette smoke exposure at home (odds ratio = 2.2 [95% confidence interval: 1.1, 4.4]), but not maternal cigarette smoking (odds ratio = 1.3 [95% confidence interval: 0.8, 2.1]). Odds were elevated, but the 95% confidence interval included 1.0, for maternal marijuana use (odds ratio = 1.8 [95% confidence interval: 0.9, 3.8]) and paternal age ≥40 years at delivery (odds ratio = 1.9 [95% confidence interval: 1.0, 3.5]).
Maternal exposure to second-hand cigarette smoke at home and a family history of CHD were associated with elevated odds of Ebstein anomaly. Genetic analyses could clarify the potential heritability of Ebstein anomaly.
The main goal of this paper is to provide insights into swash flow dynamics, generated by a non-breaking solitary wave on a steep slope. Both laboratory experiments and numerical simulations are conducted to investigate the details of runup and rundown processes. Special attention is given to the evolution of the bottom boundary layer over the slope in terms of flow separation, vortex formation and the development of a hydraulic jump during the rundown phase. Laboratory experiments were performed to measure the flow velocity fields by means of high-speed particle image velocimetry (HSPIV). Detailed pathline patterns of the swash flows and free-surface profiles were also visualized. Highly resolved computational fluid dynamics (CFD) simulations were carried out. Numerical results are compared with laboratory measurements with a focus on the velocities inside the boundary layer. The overall agreement is excellent during the initial stage of the runup process. However, discrepancies in the model/data comparison grow as time advances because the numerical model does not simulate the shoreline dynamics accurately. Introducing small temporal and spatial shifts in the comparison yields adequate agreement during the entire rundown process. Highly resolved numerical solutions are used to study physical variables that are not measured in laboratory experiments (e.g. pressure field and bottom shear stress). It is shown that the main mechanism for vortex shedding is correlated with the large pressure gradient along the slope as the rundown flow transitions from supercritical to subcritical, under the developing hydraulic jump. Furthermore, the bottom shear stress analysis indicates that the largest values occur at the shoreline and that the relatively large bottom shear stress also takes place within the supercritical flow region, being associated with the backwash vortex system rather than the plunging wave. It is clearly demonstrated that the combination of laboratory observations and numerical simulations have indeed provided significant insights into the swash flow processes.
The worldwide population of the leatherback turtle (Dermochelys coriacea) encompasses seven subpopulations among the Pacific, Atlantic and Indian Oceans. It has experienced declines across parts of its distribution, with the subpopulation of the South-west Atlantic listed as critically endangered by the IUCN Red List. The main threats to this subpopulation include its interaction with fisheries, coastal development, pollution and climate change. In this study, we sequenced mitochondrial DNA from 52 leatherback turtles in Brazil and combined these with published data from other Atlantic Ocean rookeries. The haplotype diversities of the Atlantic population rookeries ranged from 0.112 to 0.533 and are not directly proportional to current rookery sizes. The Brazilian rookery, despite recording low nest numbers per year, had the second-highest haplotype diversity among all Atlantic rookeries (h = 0.532). A mixed-stock analysis revealed that the South American pelagic aggregate is primarily composed of individuals from West Africa (84%), with contributions from the North Atlantic rookeries (14%). Leatherback turtles appear to have a complex phylogeographic pattern, showing evidence of multiple colonization events and a lack of isolation by distance. Our novel dataset, based on DNA sequences of 695 base pairs, will provide baseline data needed to understand population dynamics in the region, building comprehensive population assessments to support and develop management strategies. Having both the only known regular rookery in the South-west Atlantic, and a mixed-origin foraging area for the species along its coast, Brazil has a key role in the conservation of the leatherback turtle.
Hepatitis C virus (HCV) infection is one of the leading causes of death and morbidity associated with liver disease. Risk factors identified for the transmission of HCV include contaminated blood products, intravenous drug use, body piercing, an infected mother at birth, sexual activity, and dental therapy, among others. However, the exact diversity of the HCV genotype and genetic variation among patients with low-risk factors is still unknown. In this study, we briefly described and analysed the genotype distribution and genetic variation of HCV infections with low-risk factors using molecular biology techniques. The results suggested that genotype 1b was predominant, followed by genotypes 2a and 1a. Genetic variations in the 5′ UTR sequences of HCV were identified, including point mutations, deletions, and insertions. The frequency of genetic variations in 1b was higher than in 2a. This study provides considerable value for the prevention and treatment of liver disease caused by HCV among patients with low-risk factors and for the development of HCV diagnostic reagents and vaccines.
Despite the known heightened risk and burden of various somatic diseases in people with depression, very little is known about physical health multimorbidity (i.e. two or more physical health co-morbidities) in individuals with depression. This study explored physical health multimorbidity in people with clinical depression, subsyndromal depression and brief depressive episode across 43 low- and middle-income countries (LMICs).
Cross-sectional, community-based data on 190 593 individuals from 43 LMICs recruited via the World Health Survey were analysed. Multivariable logistic regression analysis was done to assess the association between depression and physical multimorbidity.
Overall, two, three and four or more physical health conditions were present in 7.4, 2.4 and 0.9% of non-depressive individuals compared with 17.7, 9.1 and 4.9% among people with any depressive episode, respectively. Compared with those with no depression, subsyndromal depression, brief depressive episode and depressive episode were significantly associated with 2.62, 2.14 and 3.44 times higher odds for multimorbidity, respectively. A significant positive association between multimorbidity and any depression was observed across 42 of the 43 countries, with particularly high odds ratios (ORs) in China (OR 8.84), Laos (OR 5.08), Ethiopia (OR 4.99), the Philippines (OR 4.81) and Malaysia (OR 4.58). The pooled OR for multimorbidity and depression estimated by meta-analysis across 43 countries was 3.26 (95% confident interval 2.98–3.57).
Our large multinational study demonstrates that physical health multimorbidity is increased across the depression spectrum. Public health interventions are required to address this global health problem.
A 480 year record of the oxygen-isotope ratios, dust content, chemical species and net accumulation from ice cores drilled in 1989 90 on Dyer Plateau in the Antarctic Peninsula is presented. The continuous analyses of small (sub-annual) samples reveal well-preserved annual variations in both sulfate content and δ18O, thus allowing an excellent time-scale to be established.
This history reveals a recent pronounced warming in which the last two decades have been among the warmest in the last five centuries. Furthermore, unlike in East Antarctica, on Dyer Plateau conditions appear to have been fairly normal from AD 1500 to 1850 with cooler conditions from 1850 to 1930 and a warming trend dominating since 1930. Reconstructed annual layer thicknesses suggest an increase in net accumulation beginning early in the 19th century and continuing to the present. This intuitive conflict between increasing net accumulation and depleted δ18O (cooler climate) in the 19th century appears widespread in the peninsula region and challenges our understanding of the physical relationships among moisture sources, air temperatures and snow accumulation. The complex meteorological regime in the Antarctic Peninsula region complicates meaningful interpretation of proxy indicators and results in a strong imprint of local high-frequency processes upon the larger-scale climate picture.
Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder, yet the search for definite genetic etiologies remains elusive. Delineating ASD endophenotypes can boost the statistical power to identify the genetic etiologies and pathophysiology of ASD. We aimed to test for endophenotypes of neuroanatomy and associated intrinsic functional connectivity (iFC) via contrasting male youth with ASD, their unaffected brothers and typically developing (TD) males.
The 94 participants (aged 9–19 years) – 20 male youth with ASD, 20 unaffected brothers and 54 TD males – received clinical assessments, and undertook structural and resting-state functional magnetic resonance imaging scans. Voxel-based morphometry was performed to obtain regional gray and white matter volumes. A seed-based approach, with seeds defined by the regions demonstrating atypical neuroanatomy shared by youth with ASD and unaffected brothers, was implemented to derive iFC. General linear models were used to compare brain structures and iFC among the three groups. Assessment of familiality was investigated by permutation tests for variance of the within-family pair difference.
We found that atypical gray matter volume in the mid-cingulate cortex was shared between male youth with ASD and their unaffected brothers as compared with TD males. Moreover, reduced iFC between the mid-cingulate cortex and the right inferior frontal gyrus, and increased iFC between the mid-cingulate cortex and bilateral middle occipital gyrus were the shared features of male ASD youth and unaffected brothers.
Atypical neuroanatomy and iFC surrounding the mid-cingulate cortex may be a potential endophenotypic marker for ASD in males.
A general series solution to the problem of interacting circular inclusions in plane elastostatics is presented in this paper. The analysis is based on the use of the complex stress potentials of Muskhelishvili and the theorem of analytical continuation. The general forms of the complex potentials are derived explicitly for the circular inhomogeneities under arbitrary plane loading. Using the alternation technique, these general expressions were subsequently employed to treat the problem of an infinitely extended matrix containing two arbitrarily located inhomogeneities. The major contribution of the present proposed method is shown to be capable of yielding approximate closed-form solutions for multiple inclusions, thus providing the explicit dependence of the solution on the pertinent parameters. The result shows that the dislocation has a stable equilibrium position at a certain combination of material constants. The case of an inhomogeneity interacting with a circular hole under a remote uniform load is also investigated.
Gilliland et al. (2000) have reported HST photometric observations of 34000 stars in the globular cluster 47 Tuc, showing an absence of close-in giant planets in that cluster relative to their frequency in the solar neighborhood. Here we describe the methods of time-series analysis that were used to search the 47 Tuc data for transits by giant extrasolar planets, and the means by which these methods were validated.
The objective of this study was to determine if a moderate or high reduction of dietary CP, supplemented with indispensable amino acids (IAA), would affect growth, intestinal morphology and immunological parameters of pigs. A total of 40 barrows (initial BW=13.50±0.50 kg, 45±2 day of age) were used in a completely randomized block design, and allocated to four dietary treatments containing CP levels at 20.00%, 17.16%, 15.30% and 13.90%, respectively. Industrial AA were added to meet the IAA requirements of pigs. After 4-week feeding, blood and tissue samples were obtained from pigs. The results showed that reducing dietary CP level decreased average daily gain, plasma urea nitrogen concentration and relative organ weights of liver and pancreas (P<0.01), and increased feed conversion ratio (P<0.01). Pigs fed the 13.90% CP diet had significantly lower growth performance than that of pigs fed higher CP at 20.00%, 17.16% or 15.30%. Moreover, reducing dietary CP level decreased villous height in duodenum (P<0.01) and crypt depth in duodenum, jejunum and ileum (P<0.01). The reduction in the dietary CP level increased plasma concentrations of methionine, alanine (P<0.01) and lysine (P<0.05), and decreased arginine (P<0.05). Intriguingly, reducing dietary CP level from 20.00% to 13.90% resulted in a significant decrease in plasma concentration of IgG (P<0.05), percentage of CD3+T cells of the peripheral blood (P<0.01), also down-regulated the mRNA abundance of innate immunity-related genes on toll-like receptor 4, myeloid differentiation factor 88 (P<0.01) and nuclear factor kappa B (P<0.05) in the ileum. These results indicate that reducing dietary CP level from 20.00% to 15.30%, supplemented with IAA, had no significant effect on growth performance and had a limited effect on immunological parameters. However, a further reduction of dietary CP level up to 13.90% would lead to poor growth performance and organ development, associated with the modifications of intestinal morphology and immune function.
Introduction / Innovation Concept: In 2008, the Accreditation Council for Graduate Medical Education endorsed a change such that EM residency programs can decrease their synchronous conference experiences by up to 20% in exchange for asynchronous learning - Individualized Interactive Instruction (III). Identifying quality online resources that would also fulfill III’s reporting criteria (program director monitoring, evaluation component, faculty oversight, program effectiveness) is challenging. Using crowdsourced expertise, the Approved Instructional Resources (AIR) series from Academic Life in Emergency Medicine (ALiEM) was created in 2014 to provide a credible method to identify quality educational blogs and podcasts. The identified resources, however, focused on basic content with limited utility for more senior residents. We thus created the AIR-Pro series in 2015, aimed to cover more advanced concepts. Methods: The AIR-Pro series is a continuously building curriculum covering a new subject area every 2 months. For each area, 6 EM Chief Residents identify 3-5 advanced clinical questions. Using FOAMsearch.net to search blogs and podcasts, relevant posts are scored by 8 reviewers from the AIR-Pro Board (faculty and chief residents at various institutions). The scoring instrument contains 5 measurement outcomes (7-point Likert scale): recency, accuracy, educational utility, evidence based, and references. The AIR-Pro Approved label is given to posts with a score of ≥28 (out of 35) points and these are featured in the blog posting. For scores of 26-27, an Honorable Mention label is given if Board members collectively felt that they were valuable. For each AIR-Pro subject area, a multiple choice quiz is written based on the featured posts. Educator dashboard access of the Google Drive quizzes is given to program directors for monitoring. If approved by their program director, EM residents receive official III credit upon completion of each quiz. Curriculum, Tool, or Material: As of Jan 1, 2016, there have been 2 modules published on ALiEM with 1,220 (Cardiovascular) and 1,059 (Trauma) pageviews worldwide. Although early in development, 21 different institutions are using the AIR-Pro Series with over 150 residents completed the cardiovascular and trauma quizzes. We anticipate more because the original AIR Series has over 73 programs using it for III credit. Conclusion: The AIR-Pro series is a novel, objective, crowdsourced approach towards identifying quality, educational, social media content for the advanced EM resident.
The present report is drastically shorter and, therefore, different in form from previous reports. While galactic research has increased considerably in recent years, the financial situation in the IAU made it necessary to reduce the size of the reports to half their previous size. This obliged us to adopt an almost telegraphic style in our report. However, an extended version of the report, including also the necessary references, will be published by the University of Thessaloniki and distributed to members of Commission 33. Any other interested astronomer may write to ask for a copy.
The report has been prepared by G. Contopoulos (Sections I, V, VI) and S. McCuskey (Sections II, III, IV). In our work we have been helped by Drs Kerr (radio astronomy) and Haradze (Russian contributions). Dr Elvius has written the Report of the Committee “Selected Areas”. We could cover the literature up to the fall of 1969, plus work in progress, reported by members of our commission.
The aim of the present study was to assess the effects of dietary supplementation with epidermal growth factor (EGF)-expressing Saccharomyces cerevisiae on duodenal development in weaned piglets. In total, forty piglets weaned at 21–26 d of age were assigned to one of the five groups that were provided basic diet (control group) or diet supplemented with S. cerevisiae expressing either empty-vector (INVSc1(EV) group), tagged EGF (T-EGF) (INVSc1-TE(−) group), extracellular EGF (EE-EGF) (INVSc1-EE(+) group) or intracellular EGF (IE-EGF) (INVSc1-IE(+) group). All treatments were delivered as 60·00 μg/kg body weight EGF/d. On 0, 7, 14 and 21 d, eight piglets per treatment were sacrificed to analyse the morphology, activities and mRNA expressions of digestive enzymes, as well as Ig levels (IgA, IgM, IgG) in duodenal mucosa. The results showed significant improvement on 7, 14 and 21 d, with respect to average daily gain (P<0·05), mucosa morphology (villus height and crypt depth) (P<0·05), Ig levels (P<0·01), activities and mRNA expressions of digestive enzymes (creatine kinase, alkaline phosphatase, lactate dehydrogenase and sucrase) (P<0·05) and the mRNA expression of EGF-receptor (P<0·01) in NVSc1-TE(−), INVSc1-EE(+) and INVSc1-IE(+) groups compared with control and INVSc1(EV) groups. In addition, a trend was observed in which the INVSc1-IE(+) group showed an improvement in Ig levels (0·05<P<0·10), mRNA expressions of digestive enzymes and EGF-receptor (P<0·05) compared with NVSc1-TE(−) and INVSc1-EE(+) groups. These results indicate that supplementing recombinant EGF-expressing S. cerevisiae to the diet of weaned piglets enhanced duodenal development. Moreover, biological activity (Ig levels, mRNA expressions of digestive enzymes and EGF-receptor) of IE-EGF was better than either EE-EGF or T-EGF.
This study aimed to comprehensively evaluate factors that influence the likelihood of syphilis infection from risk-taking behaviours and medical conditions. A retrospective case-control study was conducted by enrolling 664 syphilis inpatients (excluding 11 congenital syphilis patients) and 800 sex- and age-matched controls. Medical histories, clinical data and patient interview data were collected and subjected to logistic regression analyses. The prevalence of syphilis in the study population was 3·9% (675/17 304). By univariate analysis, syphilis infection was associated with migration between cities, marital status, smoking, reproductive history, hypertension, elevated blood urea nitrogen (BUN) and infection with hepatitis B virus (HBV) (P < 0·05). A high rate of syphilis-HBV co-infection was observed in HIV-negative patients and further research revealed an association between syphilis and specific HBV serological reactivity. Syphilis was also associated with the frequency, duration and status of tobacco use. Multivariate analysis indicated that syphilis infection was independently associated with migration between cities [adjusted odds ratio (aOR) 1·368, 95% confidence interval (CI) 1·048–1·785], current smoking (aOR 1·607, 95% CI 1·177–2·195), elevated BUN (aOR 1·782, 95% CI 1·188–2·673) and some serological patterns of HBV infection. To prevent the spread of infectious diseases, inpatients and blood donors should be tested for HIV, syphilis, HBV and HCV simultaneously.
We determined the prevalence and seasonality of infections by Fasciola of goats and bovine species (cattle and water buffalo) in Hubei and Anhui provinces of China. Faecal samples were collected at 2- to 3-month intervals from 200 goats in Hubei province and from 152 bovine species in Anhui province. All faecal samples were examined for the presence of parasites. We determined the nucleotide sequences of the first and second internal transcribed spacers (ITS-1 and ITS-2) of the nuclear ribosomal DNA (rDNA) of 39 Fasciola worms from Anhui province. The prevalence of Fasciola infection in goats ranged between 3.5 and 37.0%, with mean eggs per gram (EPG) ranging between 29.0 and 166.0. Prevalence and EPG exhibited downward trends over time with significant differences. The prevalence of Fasciola infection in cattle ranged between 13.3 and 46.2% (mean EPG, 36.4–100.0), and that of water buffalo ranged between 10.3 and 35.4% (mean EPG, 25.0–89.6), with a higher prevalence of infection and EPG from June to October compared with December to March. Analysis of ITS-1 and ITS-2 sequences revealed that F. hepatica and F. gigantica were present in all bovine species of Anhui province and that F. gigantica mainly infected water buffalo. This is the first demonstration of Fasciola infection in Hubei province and detection of F. hepatica and F. gigantica in Anhui province. The present study of Hubei province shows that mass treatment of livestock with closantel sodium injections in April and August/September controlled Fasciola infection effectively.