bluuebunny/crossref_metadata_2025_split huggingface dataset:
Implementation of cell-free DNA-based non-invasive prenatal testing in a National Health Service Regional Genetics Laboratory
Authors: Togneri Fiona S. , Kilby Mark D. , Young Elizabeth , Court Samantha , Williams Denise , Griffiths Michael J. , Allen Stephanie K. 
Published: December 2019

Abstract

Background
Non-invasive prenatal testing (NIPT) for the detection of foetal aneuploidy through analysis of cell-free DNA (cfDNA) in maternal blood is offered routinely by many healthcare providers across the developed world. This testing has recently been recommended for evaluative implementation in the UK National Health Service (NHS) foetal anomaly screening pathway as a contingent screen following an increased risk of trisomy 21, 18 or 13. In preparation for delivering a national service, we have implemented cfDNA-based NIPT in our Regional Genetics Laboratory. Here, we describe our validation and verification processes and initial experiences of the technology prior to rollout of a national screening service.

Methods
Data are presented from more than 1000 patients (215 retrospective and 840 prospective) from ‘high- and low-risk pregnancies’ with outcome data following birth or confirmatory invasive prenatal sampling. NIPT was by the Illumina Verifi® test.

Results
Our data confirm a high-fidelity service with a failure rate of ~0.24% and a high sensitivity and specificity for the detection of foetal trisomy 13, 18 and 21. Secondly, the data show that a significant proportion of patients continue their pregnancies without prenatal invasive testing or intervention after receiving a high-risk cfDNA-based result. A total of 46.5% of patients referred to date were referred for reasons other than high screen risk. Ten percent (76/840 clinical service referrals) of patients were referred with ultrasonographic finding of a foetal structural anomaly, and data analysis indicates high- and low-risk scan indications for NIPT.

Conclusions
NIPT can be successfully implemented into NHS regional genetics laboratories to provide high-quality services. NHS provision of NIPT in patients with high-risk screen results will allow for a reduction of invasive testing and partially improve equality of access to cfDNA-based NIPT in the pregnant population. Patients at low risk for a classic trisomy or with other clinical indications are likely to continue to access cfDNA-based NIPT as a private test.
Associations between maternal depressive symptoms and risk for offspring early-life psychopathology: the role of genetic and non-genetic mechanisms
Authors: Gjerde Line C. , Eilertsen Espen M. , Hannigan Laurie J. , Eley Thalia , Røysamb Espen , Reichborn-Kjennerud Ted , Rijsdijk Fruhling V. , McAdams Tom A. , Ystrom Eivind 
Published: December 2019

AbstractBackgroundAlthough maternal depressive symptoms are robustly associated with offspring early-life psychopathology symptoms, it is not clear which potential mechanisms are at play. We aimed to estimate the relative importance of genetic transmission and direct environmental exposure in these associations on three occasions in early childhood.MethodsBiometric modeling of maternal sisters and their offspring from the Norwegian Mother and Child Cohort Study. The analyzed sample comprised 22 316 mothers and 35 589 offspring. Mothers reported their own depressive symptoms using the Symptom checklist, and offspring's concurrent symptoms of psychopathology using the Child Behavior Checklist at 1.5, 3, and 5 years postpartum.ResultsAssociations between maternal symptoms of depression and offspring emotional problems were predominantly explained by passive genetic transmission at 1.5 and 3 years postpartum. At age 5, associations were more due to direct environmental exposure. For offspring behavioral problems, there was no net increase in the importance of direct environmental exposure across occasions.ConclusionsAssociations between maternal depressive symptoms and offspring psychopathology symptoms remained after accounting for shared genes, consistent with a small, causal effect. For offspring emotional problems, this effect appeared to increase in importance over time. Our findings imply that treatment of maternal depressive symptoms could also benefit the offspring, and that genetic confounding should be considered in future studies of such mother–offspring associations.
Older adults’ integration in the labour market: a global view
Authors: Börsch-Supan Axel , Hanemann Felizia , Beach Brian , Halimi Didier , Harding Susana , van der Waal Marieke , Watanabe Daisuke , Staudinger Ursula M. 
Published: December 2019

AbstractWhat governs labour force participation in later life and why is it so different across countries? Health and labour force participation in older ages are not strongly linked, but we observe a large variation across countries in old-age labour force participation. This points to the important role of country-specific regulations governing pension receipt and old-age labour force participation. In addition to the statutory eligibility age for a pension, such country-specific regulations include: earnings tests that limit the amount of earnings when pension benefits are received; the amount of benefit deductions for early retirement; the availability of part-time pensions before normal retirement; special regulations that permit early retirement for certain population groups; and either subsidies or extra costs for employers if they keep older employees in their labour force. This paper asks two questions: Can we link a relatively low labour force participation at ages 60–64 to country-specific regulations that make early retirement attractive? and Can we link a relatively high labour force participation at ages 65–74 to country-specific regulations that make late retirement attractive? To answer these questions, we compared the experiences in a set of developed countries around the world in order to understand better the impact of country-specific rules and laws on work and retirement behaviour at older ages and, by consequence, on the financial sustainability of pension systems.
Altitudinal shifts in forest birds in a Mediterranean mountain range: causes and conservation prospects
Authors: TELLERÍA JOSÉ LUIS 
Published: December 2019

SummaryMediterranean mountains are biodiversity hotspots where northern species occur surrounded by drier and warmer lowlands. In this context, global warming is pushing these species to higher elevations. This paper assesses whether forest birds have experienced a shift upwards over the elevation gradient in the last 35 years in the Guadarrama Mountains (600–2,400 m asl; central Spain). Alternatively, the paper tests whether the reported shifts are related to changes in forest structure resulting from rural abandonment and/or forest management. To do this, sampling carried out from 1976 to 1980 along the elevation gradient was repeated in 2014–2015. In addition, the habitat preferences of birds were used to test if the elevation shifts were related to changes in forest structure. Results show that the mean range position of birds associated with tree cover shifted downwards, a trend supported by an increase in tree-dependent birds at mid-elevations. These trends suggest that an increase in tree cover has buffered the altitudinal shifts of forest birds predicted by climate warming. Results also suggest that proper forest management may improve the resilience of forest bird communities to the pervasive effects of climate warming.
Seed coat formation: its evolution and regulation
Authors: Matilla Angel J. 
Published: December 2019

AbstractIn higher plants, the seed precursor (ovule primordia) is composed of three parts: funiculus, nucellus and chalaza, generating the latter one (II) or two (OI and II) protective maternal integuments (seed coat, SC). The appearance of a viable seed requires the coordinate growth and development of the preceding three compartments. Integuments are essentials for seed life as they nourish, protect and facilitate seed dispersion. Endosperm and integument growth and development are tightly coupled. Gymnosperm and angiosperm ovules are commonly unitegmic and bitegmic, respectively. Unusually, ategmy and threetegmy (OI, II and aril) also exist. The expression of theINO,ATSandETTgenes, involved in integument development, seems to have demonstrated that the fusion of OI and II leads to the appearance of unitegmy in higher plants. Likewise,INOexpression also manifests the conservation of OI during evolution. The molecular control of SC development is constituted by a signalling network with still a multitude of gaps. The fertilization-independent development of the ovule is repressed by the FERTILIZATION INDEPENDENT SEED (FIS), a Polycomb-Repressive-Complex-2 (PRC2). Both endosperm and SC development are tightly linked to PRC2 function. As in many other developmental processes, auxin plays an essential role during ovule and SC development. Auxin transport from the endosperm to the integuments is regulated by AGL62 (AGAMOUS-LIKE 62), the encoding gene of which is specifically expressed in the endosperm to suppress its cellularization. In the absence of AGL62 (i.e.agl62mutants), auxin remains trapped in the endosperm and the SC fails to develop (i.e. seed abortion). This update shows that auxin biosynthesis, transport and signalling play a predominant role and seem to be absolutely required in the pathway(s) that lead to SC formation, most likely not as a unique hormonal component.
Healthcare utilisation and health literacy among young adults seeking care in Sweden: findings from a cross-sectional and retrospective study with questionnaire and registry-based data
Authors: Viktorsson Lisa , Yngman-Uhlin Pia , Törnvall Eva , Falk Magnus 
Published: December 2019

Abstract

Aim:
The objective of this study was to examine young adults’ healthcare utilisation and its possible association with health literacy.

Background:
Many countries struggle with insufficient accessibility at emergency departments (EDs) and primary healthcare centres (PHCs). Young adults, aged 20–29 years old, account for a substantial number of unnecessary doctor visits where health literacy could be an explanatory factor.

Method:
This study incorporated a combined retrospective and cross-sectional study design with analysis of registry data, including all registered outpatient doctor visits between 2004 and 2014 (n = 1 086 432), and strategic sample questionnaire data (n = 207), focusing on socio-demographics, symptoms and information-seeking behaviour. Mean differences between first-year and last-year doctor visits for each age group were calculated using registry data. Fischer’s exact test was applied to questionnaire data to analyse group differences between ED and PHC visitors as well as between patients with sufficient health literacy and insufficient health literacy. Binary logistic regression was used to investigate covariation.

Findings:
Healthcare utilisation has increased among young adults during the past decade, however, not comparatively more than for other age groups. ED patients (n = 49) compared to PHC patients (n = 158) were more likely to seek treatment for gastrointestinal symptoms (P = 0.001), had shorter duration of symptoms (P = 0.001) and sought care more often on the recommendation of a healthcare professional (P = 0.001). Insufficient/problematic health literacy among young adults was associated with having lower reliance on the healthcare system (P = 0.03) and with a greater likelihood of seeking treatment for psychiatric symptoms (P = 0.002).

Conclusion:
Young adults do not account for the increase in healthcare utilisation during the last decade to a greater extent than other age groups. Young adults’ reliance on the healthcare system is associated with health literacy, an indicator potentially important for consideration when studying health literacy and its relationship to more effective use of healthcare services.
The effect of high maternal linoleic acid on endocannabinoid signalling in rodent hearts
Authors: Sleep Simone L. , Shrestha Nirajan , Cuffe James S. M. , Holland Olivia J. , Headrick John P. , McAinch Andrew J. , Hryciw Deanne H. 
Published: December 2019

AbstractThe endocannabinoid system (ECS), modulated by metabolites of linoleic acid (LA), is important in regulating cardiovascular function. In pregnancy, LA is vital for foetal development. We investigated the effects of elevated LA in H9c2 cardiomyoblasts in vitro and of a high linoleic acid (HLA, 6.21%) or low linoleic acid (LLA, 1.44%) diet during pregnancy in maternal and offspring hearts. H9c2 cell viability was reduced following LA exposure at concentrations between 300 and 1000 µM. HLA diet decreased cannabinoid receptor type 2 (CB2) mRNA expression in foetal hearts from both sexes. However, HLA diet increased CB2 expression in maternal hearts. The mRNA expression of fatty acid amide hydrolase (FAAH) in foetal hearts was higher in females than in males irrespective of diet and N-acyl phosphatidylethanolamine-specific phospholipase D (NAPE-PLD) mRNA expression showed an interaction between diet and sex. Data indicate that a high LA diet alters cell viability and CB2 expression, potentially influencing cardiac function during pregnancy and development of the offspring’s heart.
Transient Change of Io's Neutral Oxygen Cloud and Plasma Torus Observed by Hisaki
Authors: Koga Ryoichi , Tsuchiya Fuminori , Kagitani Masato , Sakanoi Takeshi , Yoshioka Kazuo , Yoshikawa Ichiro , Kimura Tomoki , Murakami Go , Yamazaki Atsushi , Smith H. Todd , Bagenal Fran 
Published: December 2019

AbstractIo's atmospheric oxygen atoms are heated by atmospheric sputtering and escape from Io's gravity, forming a neutral oxygen cloud around Io's orbit. This neutral cloud is important as a source of the Io oxygen plasma torus. Previous studies derived the distribution and density of the equilibrium neutral oxygen cloud. However, little is known about the evolution of the neutral cloud. In this study, we analyzed Hisaki satellite observations of the spatial distribution of OI 130.4 nm emissions around Io's orbit during transient strong density enhancement in the torus in 2015 (called high density period). Comparing time variations of OI and OII 83.4 nm emissions, we estimated that the lifetimes of O+ in this period were about 21 days in the high density period and 41 days in the normal density period. Hisaki observations are consistent with a decrease in the lifetime of O+ when the density in the torus increases. The radial distribution showed the neutral oxygen cloud spread outward up to 8.6 Jupiter radii during the high density period. We also show that during the high density period, the neutral oxygen number density at Io's orbit (where north‐south thickness is assumed to be 1.2 Jupiter radii) increased to
cm−3, more than three times the value during the normal density period (
cm−3). The azimuthal distribution showed a dense region around Io and a longitudinally uniform, diffuse region distributed along Io's orbit that enlarges during the high density period.
A Method to Estimate the Physical Properties of Magnetospheric Generators From Observations of Quiet Discrete Auroral Arcs
Authors: Echim M. M. , Lamy H. , De Keyser J. , Maggiolo R. , Gunell H. , Simon Wedlund C. L. 
Published: December 2019

AbstractWe discuss a method to estimate the properties of a magnetospheric generator using a quasi‐electrostatic magnetosphere‐ionosphere coupling model and in situ or remote sensing observations of discrete quiet arcs. We first construct an ensemble of Vlasov equilibrium solutions for generator structures formed at magnetospheric plasma interfaces. For each generator solution, we compute the ionospheric electric potential from the current continuity equation. Thus, we estimate the field‐aligned potential drop that allows us to assess several properties of the discrete auroral arc, such as the field‐aligned potential difference, the field‐aligned current density, the flux of precipitating energy, and the height‐integrated Pedersen conductance. A minimization procedure based on comparing the numerical results with observations is defined and applied to find which solution of the current continuity equation and which generator model give auroral arc properties that best fit the observations. The procedure is validated in a case study with observations by DMSP and Cluster and can be generalized to other types of data.
A Neural Network‐Based Ionospheric Model Over Africa From Constellation Observing System for Meteorology, Ionosphere, and Climate and Ground Global Positioning System Observations
Authors: Okoh Daniel , Seemala Gopi , Rabiu Babatunde , Habarulema John Bosco , Jin Shuanggen , Shiokawa Kazuo , Otsuka Yuichi , Aggarwal Malini , Uwamahoro Jean , Mungufeni Patrick , Segun Bolaji , Obafaye Aderonke , Ellahony Nada , Okonkwo Chinelo , Tshisaphungo Mpho , Shetti Dadaso 
Published: December 2019

AbstractThe first regional total electron content (TEC) model over the entire African region (known as AfriTEC model) using empirical observations is developed and presented. Artificial neural networks were used to train TEC observations obtained from Global Positioning System receivers, both on ground and onboard the Constellation Observing System for Meteorology, Ionosphere, and Climate satellites for the African region from years 2000 to 2017. The neural network training was implemented using inputs that enabled the networks to learn diurnal variations, seasonal variations, spatial variations, and variations that are connected with the level of solar activity, for quiet geomagnetic conditions (−20 nT ≤ Dst ≤ 20 nT). The effectiveness of three solar activity indices (sunspot number, solar radio flux at 10.7‐cm wavelength [F10.7], and solar ultraviolet [UV] flux at 1 AU) for the neural network trainings was tested. The F10.7 and UV were more effective, and the F10.7 was used as it gave the least errors on the validation data set used. Equatorial anomaly simulations show a reduced occurrence during the June solstice season. The distance of separation between the anomaly crests is typically in the range from about 11.5 ± 1.0° to 16.0 ± 1.0°. The separation is observed to widen as solar activity levels increase. During the December solstice, the anomaly region shifts southwards of the equinox locations; in year 2012, the trough shifted by about 1.5° and the southern crest shifted by over 2.5°.
Formation of Double Tongues of Ionization During the 17 March 2013 Geomagnetic Storm
Authors: Dang Tong , Lei Jiuhou , Wang Wenbin , Wang Boyi , Zhang Binzheng , Liu Jing , Burns Alan , Nishimura Yukitoshi 
Published: December 2019

AbstractDuring geomagnetic disturbances, enhanced high‐latitude convection transports ionospheric F2‐region plasma from the dayside midlatitude region into the polar cap, leading to structures such as tongues of ionization (TOIs) and patches. In this study, we investigate the dynamic evolution of TOIs during the 17 March 2013 storm using a high‐resolution coupled thermosphere‐ionosphere‐electrodynamics model and Defense Meteorological Satellite Program (DMSP) satellite observations. Both model and observations show the occurrence of two TOIs simultaneously. One originates in the morning convection cell and the other one in the evening cell. DMSP observations also show similar signatures of two density peaks inside the polar cap. Further diagnostic analysis and control simulations show that the morning TOI is associated with auroral precipitation and is transported into the polar cap region by the convection electric field. This study reveals that the plasma transport in both the afternoon and morning sectors play critical roles in the dynamic evolution of polar ionospheric structures.
The First Intense Geomagnetic Storm Event Recorded by the China Seismo‐Electromagnetic Satellite
Authors: Yang Y.‐Y. , Zhima Z.‐R. , Shen X.‐H. , Chu W. , Huang J.‐P. , Wang Q. , Yan R. , Xu S. , Lu H.‐X. , Liu D.‐P. 
Published: December 2019

AbstractOn 25 August 2018, the China Seismo‐Electromagnetic Satellite (CSES) encountered the first intense geomagnetic storm event since its launch on 2 February 2018. The main purpose of this work is to check in‐flight performance of the assembled payloads onboard CSES, as well as to investigate the ionosphere perturbations induced by this geomagnetic storm. The study shows that all investigated parameters simultaneously respond to the different phases of the geomagnetic storm, verifying the measuring capabilities of the assembled payloads onboard CSES. Specifically, the magnetic field obtained from the high‐precision magnetometer fits well with that obtained by the Swarm satellite, clearly demonstrating the development phase of the storm; joint analysis using the Langmuir probe, plasma analyzer, electric field detector, and GNSS occultation receiver data demonstrate that this is a positive storm event and that electric field penetration is the possible mechanism for the disturbance in the ionosphere. During this storm event, some significant ELF/VLF waves are also excited and there is enhancement of the energetic electron flux (of energy <1 MeV). These main features are consistent with results from previous works, indicating the excellent performance of the search coil magnetometer and high‐energy particle detector.
Pharmacological prevention and early treatment of post-traumatic stress disorder and acute stress disorder: a systematic review and meta-analysis
Authors: Astill Wright Laurence , Sijbrandij Marit , Sinnerton Rob , Lewis Catrin , Roberts Neil P. , Bisson Jonathan I. 
Published: December 2019

AbstractPost-traumatic stress disorder (PTSD) is a common mental disorder associated with significant distress and reduced functioning. Its occurrence after a severe traumatic event and association with characteristic neurobiological changes make PTSD a good candidate for pharmacological prevention and early treatment. The primary aim for this systematic review and meta-analysis was to assess whether pharmacological interventions when compared to placebo, or other pharmacological/psychosocial interventions resulted in a clinically significant reduction or prevention of symptoms, improved functioning or quality of life, presence of disorder, or adverse effects. A systematic search was undertaken to identify RCTs, which used early pharmacotherapy (within three months of a traumatic event) to prevent and treat PTSD and acute stress disorder (ASD) in children and adults. Using Cochrane Collaboration methodology, RCTs were identified and rated for risk of bias. Available data was pooled to calculate risk ratios (RR) for PTSD prevalence and standardised mean differences (SMD) for PTSD severity. 19 RCTs met the inclusion criteria; 16 studies with adult participants and three with children. The methodological quality of most trials was low. Only hydrocortisone in adults was found to be superior to placebo (3 studies, n = 88, RR: 0.21 (CI 0.05 to 0.89)) although this was in populations with severe physical illness, raising concerns about generalisability. No significant effects were found for the other pharmacotherapies investigated (propranolol, oxytocin, gabapentin, fish oil (1470 mg DHA/147 mg EPA), fish oil (224 mg DHA/22.4 mg EPA), dexamethasone, escitalopram, imipramine and chloral hydrate). Hydrocortisone shows the most promise, of pharmacotherapies subjected to RCTs, as an emerging intervention in the prevention of PTSD within three months after trauma and should be a target for further investigation. The limited evidence for hydrocortisone and its adverse effects mean it cannot be recommended for routine use, but, it could be considered as a preventative intervention for people with severe physical illness or injury, shortly after a traumatic event, as long as there are no contraindications. More research is needed using larger, high quality RCTs to establish the most efficacious use of hydrocortisone in different populations and optimal dosing, dosing window and route. There is currently a lack of evidence to suggest that other pharmacological agents are likely to be effective.