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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.
Student engagement is a relatively new construct that describes concepts as varied as classroom behaviors, emotional reactions, motivational beliefs, self-regulatory processes, metacognitive strategies, school belonging and interactions with instructional materials. This chapter reviews a variety of methods to measure student engagement including self-report surveys, teacher ratings, interviews, administrative data, observations, experience sampling methods, and real-time measures. The authors outline the strengths and limitations of each method. Next, we present two examples from our own research on approaches to measuring engagement. The goal of these cases is to illustrate how we have addressed some of the challenges with measurement, as well as showing the importance of choosing a measurement technique that aligns with the research questions. First, we describe the results of a qualitative study to develop a new subject-specific measure of engagement. Next, information on the predictive validity of an observational measure to assess engagement at the class-level is presented. The chapter concludes with a discussion of measurement limitations, future directions, and implications for policy and practice.
We report the utility of whole-genome sequencing (WGS) conducted in a clinically relevant time frame (ie, sufficient for guiding management decision), in managing a Streptococcus pyogenes outbreak, and present a comparison of its performance with emm typing.
A 2,000-bed tertiary-care psychiatric hospital.
Active surveillance was conducted to identify new cases of S. pyogenes. WGS guided targeted epidemiological investigations, and infection control measures were implemented. Single-nucleotide polymorphism (SNP)–based genome phylogeny, emm typing, and multilocus sequence typing (MLST) were performed. We compared the ability of WGS and emm typing to correctly identify person-to-person transmission and to guide the management of the outbreak.
The study included 204 patients and 152 staff. We identified 35 patients and 2 staff members with S. pyogenes. WGS revealed polyclonal S. pyogenes infections with 3 genetically distinct phylogenetic clusters (C1–C3). Cluster C1 isolates were all emm type 4, sequence type 915 and had pairwise SNP differences of 0–5, which suggested recent person-to-person transmissions. Epidemiological investigation revealed that cluster C1 was mediated by dermal colonization and transmission of S. pyogenes in a male residential ward. Clusters C2 and C3 were genomically diverse, with pairwise SNP differences of 21–45 and 26–58, and emm 11 and mostly emm120, respectively. Clusters C2 and C3, which may have been considered person-to-person transmissions by emm typing, were shown by WGS to be unlikely by integrating pairwise SNP differences with epidemiology.
WGS had higher resolution than emm typing in identifying clusters with recent and ongoing person-to-person transmissions, which allowed implementation of targeted intervention to control the outbreak.
Enterovirus A-71 (EV-A71) may be fatal, but the natural history, symptoms, and signs are poorly understood. This study aimed to examine the natural history of fatal EV-A71 infection and to identify the symptoms and signs of early warning of deterioration. This was a clinical observational study of fatal cases of EV-A71 infection treated at five Chinese hospitals between 1 January 2010 and 31 December 2012. We recorded and analysed 91 manifestations of EV-A71 infection in order to identify early prognosis indicators. There were 54 fatal cases. Median age was 21.5 months (Q1−Q3: 12–36). The median duration from onset to death was 78.5 h (range, 6 to 432). The multilayer perceptron analysis showed that ataxia respiratory, ultrahyperpyrexia, excessive tachycardia, refractory shock, absent pharyngeal reflex, irregular respiratory rhythm, hyperventilation, deep coma, pulmonary oedema and/or haemorrhage, excessive hypertension, tachycardia, somnolence, CRT extension, fatigue or sleepiness and age were associated with death. Autopsy findings (n = 2) showed neuronal necrosis, softening, perivascular cuffing, colloid and neuronophagia phenomenon in the brainstem. The fatal cases of enterovirus A71 had neurologic involvement, even at the early stage. Direct virus invasion through the neural pathway and subsequent brainstem damage might explain the rapid progression to death.
An updated compilation of published and new data of major-ion (Ca, Cl, K, Mg, Na, NO3, SO4) and methylsulfonate (MS) concentrations in snow from 520 Antarctic sites is provided by the national ITASE (International Trans-Antarctic Scientific Expedition) programmes of Australia, Brazil, China, Germany, Italy, Japan, Korea, New Zealand, Norway, the United Kingdom, the United States and the national Antarctic programme of Finland. The comparison shows that snow chemistry concentrations vary by up to four orders of magnitude across Antarctica and exhibit distinct geographical patterns. The Antarctic-wide comparison of glaciochemical records provides a unique opportunity to improve our understanding of the fundamental factors that ultimately control the chemistry of snow or ice samples. This paper aims to initiate data compilation and administration in order to provide a framework for facilitation of Antarctic-wide snow chemistry discussions across all ITASE nations and other contributing groups. The data are made available through the ITASE web page (http://www2.umaine.edu/itase/content/syngroups/snowchem.html) and will be updated with new data as they are provided. In addition, recommendations for future research efforts are summarized.
Semi-permanent snow is part of the continuum between seasonal snow and glacier ice. Although ubiquitous in the High Arctic, most late-lying snow banks and snow beds have lost their perennial status over the past decade as the summers have become progressively warmer. The loss over the past decade is the most unprecedented since aerial photography of the Canadian Arctic islands was first undertaken over half a century ago, and it has produced observable thermal, hydrological and ecological impacts. Where the ground has become exposed beneath the perennial snow cover, seasonal ground thaw has deepened. Tundra ponds and patchy wetlands fed principally by meltwater in the summer have suffered water-level decline or desiccation. The water balance of headwater basins is also affected, losing a buffering vehicle that accumulates storage surplus from the wet cool years to support streamflow and evaporation in the dry warm years. The tundra vegetation, already sparse, undergoes changes in the long term. As an essential source of water in the polar desert environment, the widespread distribution of semi-permanent snow magnifies its Arctic-wide importance.
Background: The degree of overlap between schizophrenia (SCZ) and affective psychosis (AFF) has been a recurring question since Kraepelin’s subdivision of the major psychoses. Studying nonpsychotic relatives allows a comparison of disorder-associated phenotypes, without potential confounds that can obscure distinctive features of the disorder. Because attention and working memory have been proposed as potential endophenotypes for SCZ and AFF, we compared these cognitive features in individuals at familial high-risk (FHR) for the disorders. Methods: Young, unmedicated, first-degree relatives (ages, 13–25 years) at FHR-SCZ (n=41) and FHR-AFF (n=24) and community controls (CCs, n=54) were tested using attention and working memory versions of the Auditory Continuous Performance Test. To determine if schizotypal traits or current psychopathology accounted for cognitive deficits, we evaluated psychosis proneness using three Chapman Scales, Revised Physical Anhedonia, Perceptual Aberration, and Magical Ideation, and assessed psychopathology using the Hopkins Symptom Checklist -90 Revised. Results: Compared to controls, the FHR-AFF sample was significantly impaired in auditory vigilance, while the FHR-SCZ sample was significantly worse in working memory. Both FHR groups showed significantly higher levels of physical anhedonia and some psychopathological dimensions than controls. Adjusting for physical anhedonia, phobic anxiety, depression, psychoticism, and obsessive-compulsive symptoms eliminated the FHR-AFF vigilance effects but not the working memory deficits in FHR-SCZ. Conclusions: The working memory deficit in FHR-SZ was the more robust of the cognitive impairments after accounting for psychopathological confounds and is supported as an endophenotype. Examination of larger samples of people at familial risk for different psychoses remains necessary to confirm these findings and to clarify the role of vigilance in FHR-AFF. (JINS, 2016, 22, 1026–1037)
Conventional and accelerator mass spectrometry (AMS) radiocarbon, TL, OSL, and IRSL dating results on samples from the cores D100 and I70 from Ejina Basin, one of the most important inland basins in arid-hyperarid NW China, show that it is difficult to determine the ages of sediments at different depths. AMS ages of core D100 samples demonstrate that the sediments at depths from 10 to 90 m were formed between 14 to 30 kyr BP. The inverted ages from both the D100 and I70 cores imply that there was a strong reworking of the sediments during and after deposition processes. The inverted ages also indicate drastic fluctuations of groundwater bearing soluble organic matters, which might be related to neotectonic activities and climate changes during the period. Consequently, it is impossible to establish an accurate and reliable chronology for the cores based only on these dates. All AMS ages, if they are reliable and acceptable, indicate a high deposition rate (5∼8 mm/yr), and since all TL, OSL, and IRSL ages are much older than those given by AMS, it makes these methods questionable for determining the ages of lacustrine-fluvial-alluvial deposits.
The glyptodont (Glyptodontidae Burmeister 1879, in Ameghino 1889), a giant cousin of the armadillo, has long been thought to have disappeared in South America at least 10,000 years ago at the end of the Pleistocene. There are indications that the glyptodont had some interaction with ancient hunter-gatherers peoples (Politis et al. 1987; Politis 1995), but the precise time of its extinction has never been well established. Most recently, a brief mention of 14C dates of 7500 to 6500 BP (Geotimes 1996) for glyptodont remains discovered at La Moderna (Azul Department, Buenos Aires province, Argentina), has aroused excitement because the new younger dates have changed the traditional idea about the survival and extinction of this beast.
Niger (Guizotia abyssinica, L.) is a desirable oilseed crop for birdseed, especially for finches (Spinus spp.) because of its high ratio of unsaturated to saturated fatty acids and relatively high oil content. In 2012, phenotypic traits, seed oil and fatty acid content measurements were made on 14 plant introductions (PIs) from the United States Department of Agriculture germplasm collection. The PIs originated in Ethiopia (ten), India (three) and USA (one). The phenotypic traits analysed included seed/plant, branches/plant, capitula/plant1, average seed/capitulum and plant height. After initial assessments of the 14 PIs, three were selected for use as parents to produce two one-way and two two-way F1 crosses for the purpose of evaluating self-incompatibility (SI). Parent and F1 progeny seeds were planted in a greenhouse and transplanted to a field site at the East Tennessee Research and Education Center (2012, 2013 and 2014). Comparisons from 2012 showed seed oil of the 14 PIs ranging from 32.9 to 37.9% (PI 508076 (Ethiopia) and PI 509436 (India), respectively). Major fatty acids included stearic, palmitic, oleic and linoleic; with linoleic acid in highest amount. PI508079 (Ethiopia) had the best combination of seed yield, seed oil and linoleic acid content. Over 2013 and 2014, SI ranged from 91.1 to 100.0%. W6 18860 (USA) had the most self-compatibility, and the F1 plants generated from crosses between W6 18860 and other plants tended to be self-compatible when the former was used as a pollen recipient. The results obtained from this study should be useful for niger breeding and production purposes.
In the present paper, the phylogeographies of two monogenean species, Pseudokuhnia minor and Kuhnia scombri, on the same species of host, Scomber japonicus, were studied. Fragments of the mitochondrial cytochrome c oxidase subunit 1 gene were sequenced for 264 individuals of P. minor and 224 individuals of K. scombri collected from 10 localities along the coast of China. Genetic diversity of K. scombri was higher than that of P. minor, which may imply that P. minor has a lower evolution rate and/or is a younger species. The neighbour-joining (NJ) trees of both parasites were comprised of two clades without association to sample sites, which is the signature of remixing populations following past division. Analyses of molecular variance and pairwise fixation index revealed different genetic structures for the populations of these two closely related species along the coast of China: P. minor without significant genetic structure, while K. scombri has some genetic differentiation. Both neutrality tests and mismatch distribution suggested that the populations of these two species of parasites experienced population expansion in the late Pleistocene era due to the glacial–interglacial cycles induced by climatic oscillations.
Overweight and obese individuals have an increased risk of developing the metabolic syndrome because of subsequent chronic inflammation and oxidative stress, which the antioxidant nutrient lycopene can reduce. However, studies indicate that different BMI statuses can alter the positive effects of lycopene. Therefore, the purpose of this study was to examine how BMI influences the association between serum lycopene and the metabolic syndrome. The tertile rank method was used to divide 13 196 participants, aged 20 years and older, into three groups according to serum concentrations of lycopene. The associations between serum lycopene and the metabolic syndrome were analysed separately for normal-weight, overweight and obese participants. Overall, the prevalence of the metabolic syndrome was significantly higher in the first tertile group (OR 38·6 %; 95 % CI 36·9, 40·3) compared with the second tertile group (OR 29·3 %; 95 % CI 27·5, 31·1) and the third tertile group (OR 26·6 %; 95 % CI 24·9, 28·3). However, the associations between lycopene and the metabolic syndrome were only significant for normal-weight and overweight participants (P<0·05), but not for obese participants (P>0·05), even after adjusting for possible confounding variables. In conclusion, BMI appears to strongly influence the association between serum lycopene and the metabolic syndrome.
The disease- and mortality-related difference between biological age based on DNA methylation and chronological age (Δage) has been found to have approximately 40% heritability by assuming that the familial correlation is only explained by additive genetic factors. We calculated two different Δage measures for 132 middle-aged female twin pairs (66 monozygotic and 66 dizygotic twin pairs) and their 215 sisters using DNA methylation data measured by the Infinium HumanMethylation450 BeadChip arrays. For each Δage measure, and their combined measure, we estimated the familial correlation for MZ, DZ and sibling pairs using the multivariate normal model for pedigree analysis. We also pooled our estimates with those from a former study to estimate weighted average correlations. For both Δage measures, there was familial correlation that varied across different types of relatives. No evidence of a difference was found between the MZ and DZ pair correlations, or between the DZ and sibling pair correlations. The only difference was between the MZ and sibling pair correlations (p < .01), and there was marginal evidence that the MZ pair correlation was greater than twice the sibling pair correlation (p < .08). For weighted average correlation, there was evidence that the MZ pair correlation was greater than the DZ pair correlation (p < .03), and marginally greater than twice the sibling pair correlation (p < .08). The varied familial correlation of Δage is not explained by additive genetic factors alone, implying the existence of shared non-genetic factors explaining variation in Δage for middle-aged women.
Prostate cancer is the most common non-cutaneous cancer and the second leading cause of cancer-related mortality among men in the USA. Growing evidence suggests that oxidative stress is involved in the development and progression of prostate cancer. In this study, the association between antioxidants from diet and supplements and biomarkers of oxidative stress in blood (n 278), urine (n 298) and prostate tissue (n 55) were determined among men from the North Carolina-Louisiana Prostate Cancer Project. The association between antioxidant intake and oxidative stress biomarkers in blood and urine was determined using linear regression, adjusting for age, race, prostate cancer aggressiveness and smoking status. Greater antioxidant intake was found to be associated with lower urinary 8-isoprostane concentrations, with a 10 % increase in antioxidant intake corresponding to an unadjusted 1·1 % decrease in urinary 8-isoprostane levels (95 % CI −1·7, −0·3 %; P value<0·01) and an adjusted 0·6 % decrease (95 % CI −1·4, 0·2 %; P value=0·16). In benign prostate tissue, thioredoxin 1 was inversely associated with antioxidant intake (P=0·02). No significant associations were found for other blood or urinary biomarkers or for malignant prostate tissue. These results indicate that antioxidant intake may be associated with less oxidative stress among men diagnosed with prostate cancer.
Titanium oxide photoelectrodes have been used for water splitting for a few decades, but have low solar-to-hydrogen efficiencies. Perovskite halides (e.g., CH3NH3PbI3) have recently emerged as an efficient light absorber system. We try to combine the two materials to create new photoelectrodes to achieve a higher efficiency for hydrogen production. The photoelectrodes are investigated for water-splitting hydrogen production under Xe light irradiation by photoelectrochemical (PEC) reaction. Since perovskite halides are favorable light harvesters under UV and visible light irradiation, the composite films of titania and perovskite halide would achieve efficient water splitting. The hydrogen production rate using the composite films is higher than that using anatase TiO2 electrode. However, the composite films are not stable in water under light irradiation and the perovskite halide gradually decomposes into lead halide.
The Florida Children’s Medical Services (CMS) has a long-standing history of ensuring that providers of multiple paediatric subspecialties abide by the highest standards. The cardiac sub-committee has written quality standard documents that participating programmes must meet or exceed. These standards oversee paediatric cardiology services including surgery, catheterisations, and outpatient services. On April, 2012, the cardiac sub-committee decided to develop similar standards in paediatric electrophysiology. A task force was created and began this process. These standards include a catalogue of required and optional equipment, as well as staff and physician credentials. We sought to establish expectations of procedural numbers by practitioner and facility. The task force surveyed the members of the Pediatric and Congenital Electrophysiology Society. Finding no consensus, the task force is committed to generate the data by requiring that the CMS participating programmes enrol and submit data to the Multicenter Pediatric and Adult Congenital EP Quality (MAP-IT™) Initiative. This manuscript details the work of the Florida CMS Paediatric Electrophysiology Task Force.
The Hard X-ray Modulation Telescope (HXMT) is a Chinese space telescope mission. It is scheduled for launch in 2015. The telescope will perform an all-sky survey in hard X-ray band (1 - 250 keV), a series of deep imaging observations of small sky regions as well as pointed observations. In this work we present a conceptual method to reconstruct light curves from HXMT imaging observation directly, in order to monitor time-varying objects such as GRB, AXP and SGR in hard X-ray band with HXMT imaging observations.
The electrode materials for VRFB should possess higher electric conductivity, corrosion resistance and hydrophilic properties in sulfuric acid. The characteristics of the electrode materials affect the stability and the energy efficiency of VRFB. Carbon materials are the best suited for VRFB applications. In this study, the calcined treatment, acid treatment and ozone treatment were used to modify the surface of carbon papers. The redox reaction of [VO]2+/[VO2]+ on the modified carbon papers was evaluated by cyclic voltammetry (CV). The surface compositions of carbon materials were analyzed by X-ray photoelectron spectrometry (XPS). The experimental results reveal that three oxidative methods enhance the redox reaction of [VO]2+/[VO2]+. The calcined treatments and acid treatments also enhanced hydrolysis reaction. The mole ratio of O/C apparently increased, but the binding energy of C1s and O1s were not chemically shifted in the acid treatment. The intensity of binding energy of O1s, between 532 eV and 534 eV, apparently increased in the ozone and calcined treatments. The Ox treated samples were more hydrophilic than the Oz treated samples. In the Ox treated samples, the decrease of Rct value indicates that was contributed from the redox reaction of [VO]2+/[VO2]+ and hydrolysis reaction. It does not completely benefit the energy efficiency of VRFB. The 5 x 5 cm2 modified carbon papers were used as electrode materials in the VRFB. The voltage efficiency, coulomb efficiency and energy efficiency reached 93 %, 90 % and 83 %, respectively, at a current density of 12 mA．cm-2 at 0.8-1.8 V.
Roughness parameters of sample surface and buried interfaces in a series of thin layers of Si0.4 GeO.6 grown on Si(100) by molecular beam epitaxy (MBE) were measured by using the technique of grazing-incidence x-ray scattering (GIXS). The strain in the layer and the critical thickness of the film were determined from x-ray diffraction of the Si(004) peak. The roughness parameters can be described by a scaling-law with an exponent β = 0.71 for both the surface and interfacial roughness. Establishment of a scaling law thus allows a possibility of predicting the interfacial roughness as a function of the epilayer thickness.