179 research outputs found

    Assessment of gene expression in peripheral blood using RNAseq before and after weight restoration in anorexia nervosa

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    We examined gene expression in the blood of six females with anorexia nervosa (AN) before and after weight restoration using RNAseq. AN cases (aged 19-39) completed clinical assessments and had blood drawn for RNA at hospital admission (T1, < ~75% ideal body weight, IBW) and again at discharge (T2, ≥ ~85% IBW). To examine the relationship between weight restoration and differential gene expression, normalized gene expression levels were analyzed using a paired design. We found 564 genes whose expression was nominally significantly different following weight restoration (p < 0.01, 231 increased and 333 decreased). With a more stringent significance threshold (false discovery rate q < 0.05), 67 genes met criteria for differential expression. Of the top 20 genes, CYP11A1, C16orf11, LINC00235, and CPA3 were down-regulated more than two-fold after weight restoration while multiple olfactory receptor genes (OR52J3, OR51L1, OR51A4, OR51A2) were up-regulated more than two-fold after weight restoration. Pathway analysis revealed up-regulation of two broad pathways with largely overlapping genes, one related to protein secretion and signaling and the other associated with defense response to bacterial regulation. Although results are preliminary secondary to a small sample size, these data provide initial evidence of transcriptional alterations during weight restoration in AN

    Retrospective Maternal Report of Early Eating Behaviors in Anorexia Nervosa

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    This exploratory study assessed whether maternal recall of childhood feeding and eating practices differed across anorexia nervosa (AN) subtypes. Participants were 325 women from the Genetics of Anorexia Nervosa study whose mothers completed a childhood feeding and eating questionnaire. Multinomial logistic regression analyses were used to predict AN subtype from measures related to childhood eating: (a) infant feeding (breastfed, feeding schedule, age of solid food introduction), (b) childhood picky eating (picky eating before age one and between ages one and five), and (c) infant gastrointestinal problems (vomiting and colic). Results revealed no significant differences in retrospective maternal report of childhood feeding and eating practices among AN subtypes

    The influence of tides on the marine carbonate chemistry of a coastal polynya in the south-eastern Weddell Sea

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    Tides significantly affect polar coastlines by modulating ice shelf melt and modifying shelf water properties through transport and mixing. However, the effect of tides on the marine carbonate chemistry in such regions, especially around Antarctica, remains largely unexplored. We address this topic with two case studies in a coastal polynya in the south-eastern Weddell Sea, neighbouring the Ekström Ice Shelf. The case studies were conducted in January 2015 (PS89) and January 2019 (PS117), capturing semi-diurnal oscillations in the water column. These are pronounced in both physical and biogeochemical variables for PS89. During rising tide, advection of sea ice meltwater from the north-east created a fresher, warmer, and more deeply mixed water column with lower dissolved inorganic carbon (DIC) and total alkalinity (TA) content. During ebbing tide, water from underneath the ice shelf decreased the polynya's temperature, increased the DIC and TA content, and created a more stratified water column. The variability during the PS117 case study was much smaller, as it had less sea ice meltwater input during rising tide and was better mixed with sub-ice shelf water. The contrasts in the variability between the two case studies could be wind and sea ice driven, and they underline the complexity and highly dynamic nature of the system. The variability in the polynya induced by the tides results in an air–sea CO2 flux that can range between a strong sink (−24 mmol m−2 d−1) and a small source (3 mmol m−2 d−1) on a semi-diurnal timescale. If the variability induced by tides is not taken into account, there is a potential risk of overestimating the polynya's CO2 uptake by 67 % or underestimating it by 73 %, compared to the average flux determined over several days. Depending on the timing of limited sampling, the polynya may appear to be a source or a sink of CO2. Given the disproportionate influence of polynyas on heat and carbon exchange in polar oceans, we recommend future studies around the Antarctic and Arctic coastlines to consider the timing of tidal currents in their sampling strategies and analyses. This will help constrain variability in oceanographic measurements and avoid potential biases in our understanding of these highly complex systems

    A genome-wide association study of anorexia nervosa.

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    Anorexia nervosa (AN) is a complex and heritable eating disorder characterized by dangerously low body weight. Neither candidate gene studies nor an initial genome-wide association study (GWAS) have yielded significant and replicated results. We performed a GWAS in 2907 cases with AN from 14 countries (15 sites) and 14 860 ancestrally matched controls as part of the Genetic Consortium for AN (GCAN) and the Wellcome Trust Case Control Consortium 3 (WTCCC3). Individual association analyses were conducted in each stratum and meta-analyzed across all 15 discovery data sets. Seventy-six (72 independent) single nucleotide polymorphisms were taken forward for in silico (two data sets) or de novo (13 data sets) replication genotyping in 2677 independent AN cases and 8629 European ancestry controls along with 458 AN cases and 421 controls from Japan. The final global meta-analysis across discovery and replication data sets comprised 5551 AN cases and 21 080 controls. AN subtype analyses (1606 AN restricting; 1445 AN binge-purge) were performed. No findings reached genome-wide significance. Two intronic variants were suggestively associated: rs9839776 (P=3.01 × 10(-7)) in SOX2OT and rs17030795 (P=5.84 × 10(-6)) in PPP3CA. Two additional signals were specific to Europeans: rs1523921 (P=5.76 × 10(-)(6)) between CUL3 and FAM124B and rs1886797 (P=8.05 × 10(-)(6)) near SPATA13. Comparing discovery with replication results, 76% of the effects were in the same direction, an observation highly unlikely to be due to chance (P=4 × 10(-6)), strongly suggesting that true findings exist but our sample, the largest yet reported, was underpowered for their detection. The accrual of large genotyped AN case-control samples should be an immediate priority for the field

    Designing a multifaceted quality improvement intervention in primary care in a country where general practice is seeking recognition: the case of Cyprus

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    <p>Abstract</p> <p>Background</p> <p>Quality Improvement Interventions require significant financial investments, and therefore demand careful consideration in their design in order to maximize potential benefits. In this correspondence we present the methodological approach of a multifaceted quality improvement intervention aiming to improve quality of care in primary care, properly tailored for a country such as Cyprus where general practice is currently seeking recognition.</p> <p>Methods</p> <p>Our methodological approach was focused on the design of an open label, community-based intervention controlled trial using all patients from two urban and two rural public primary care centers diagnosed with hypertension and type II diabetes mellitus. The design of our intervention was grounded on a strong theoretical framework that included the Unified Theory of Acceptance and Use of Technology, and the Chronic Care Model, which synthesize evidence-based system changes in accordance with the Theory of Planned Behavior and the Theory of Reasoned Action. The primary outcome measure was improvement in the quality of care for two chronic diseases evaluated through specific clinical indicators, as well as the patient satisfaction assessed by the EUROPEP questionnaire and additional personal interviews.</p> <p>Results</p> <p>We designed a multifaceted quality improvement intervention model, supported by a varying degree of scientific evidence, tailored to local needs and specific country characteristics. Overall, the main components of the intervention were the development and adoption of an electronic medical record and the introduction of clinical guidelines for the management of the targeted chronic diseases facilitated by the necessary model of organizational changes.</p> <p>Conclusion</p> <p>Health planners and policy makers need to be aware of the potential use of certain theoretical models and applied methodology as well as inexpensive tools that may be suitably tailored to the local needs, in order to effectively design quality improvement interventions in primary care settings.</p

    Records and their imaginaries: imagining the impossible, making possible the imagined

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    © 2015 Springer Science+Business Media Dordrecht This paper argues that the roles of individual and collective imaginings about the absent or unattainable archive and its contents should be explicitly acknowledged in both archival theory and practice. We propose two new terms: impossible archival imaginaries and imagined records. These concepts offer important affective counterbalances and sometimes resistance to dominant legal, bureaucratic, historical and forensic notions of evidence that so often fall short in explaining the capacity of records and archives to motivate, inspire, anger and traumatize. The paper begins with a reflection on how imagined records have surfaced in our own work related to human rights. It then reviews some of the ways in which the concept of the imaginary has been understood by scholarship in other fields. It considers how such interpretations might contribute epistemologically to the phenomenon of impossible archival imaginaries; and it provides examples of what we argue are impossible archival imaginaries at work. The paper moves on to examine specific cases and “archival stories” involving imagined records and contemplate how they can function societally in ways similar to actual records because of the weight of their absence or because of their aspirational nature. Drawing upon threads that run through these cases, we propose definitions of both phenomena that not only augment the current descriptive, analytical and explicatory armaments of archival theory and practice but also open up the possibility of “returning” them (Ketelaar in Research in the archival multiverse. Monash University Press, Melbourne 2015a) as theoretical contributions to the fields from which the cases were drawn

    Plant trait and vegetation data along a 1314 m elevation gradient with fire history in Puna grasslands, Perú

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    Alpine grassland vegetation supports globally important biodiversity and ecosystems that are increasingly threatened by climate warming and other environmental changes. Trait-based approaches can support understanding of vegetation responses to global change drivers and consequences for ecosystem functioning. In six sites along a 1314 m elevational gradient in Puna grasslands in the Peruvian Andes, we collected datasets on vascular plant composition, plant functional traits, biomass, ecosystem fluxes, and climate data over three years. The data were collected in the wet and dry season and from plots with different fire histories. We selected traits associated with plant resource use, growth, and life history strategies (leaf area, leaf dry/wet mass, leaf thickness, specific leaf area, leaf dry matter content, leaf C, N, P content, C and N isotopes). The trait dataset contains 3,665 plant records from 145 taxa, 54,036 trait measurements (increasing the trait data coverage of the regional flora by 420%) covering 14 traits and 121 plant taxa (ca. 40% of which have no previous publicly available trait data) across 33 families
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