bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular neuroanatomy of anorexia nervosa
Authors: Howard Derek , Negraes Priscilla , Voineskos Aristotle N. , Kaplan Allan S. , Muotri Alysson R. , Duvvuri Vikas , French Leon 
Published: July 2020

AbstractAnorexia nervosa is a complex eating disorder with genetic, metabolic, and psychosocial underpinnings. Using genome-wide methods, recent studies have associated many genes with the disorder. We characterized these genes by projecting them into reference transcriptomic atlases of the prenatal and adult human brain to determine where these genes are expressed in fine detail. We found that genes from an induced stem cell study of anorexia nervosa cases are expressed at higher levels in the lateral parabrachial nucleus. Although weaker, expression enrichment of the adult lateral parabrachial is also found with genes from independent genetic studies. Candidate causal genes from the largest genetic study of anorexia nervosa to date were enriched for expression in the arcuate nucleus of the hypothalamus. We also found an enrichment of anorexia nervosa associated genes in the adult and fetal raphe and ventral tegmental areas. Motivated by enrichment of these feeding circuits, we tested if these genes respond to fasting in mice hypothalami, which highlighted the differential expression of Rps26 and Dalrd3. This work improves our understanding of the neurobiology of anorexia nervosa by suggesting disturbances in subcortical appetitive circuits.
Tract-specific analysis improves sensitivity of spinal cord diffusion MRI to cross-sectional and longitudinal changes in amyotrophic lateral sclerosis
Authors: Pisharady Pramod Kumar , Eberly Lynn E. , Cheong Ian , Manousakis Georgios , Guliani Gaurav , Clark H. Brent , Bathe Mark , Walk David , Lenglet Christophe 
Published: July 2020

AbstractAmyotrophic lateral sclerosis (ALS) is a late-onset fatal neurodegenerative disease that causes progressive degeneration of motor neurons in the brain and the spinal cord. Corticospinal tract degeneration is a defining feature of ALS. However, there have been very few longitudinal, controlled studies assessing diffusion MRI (dMRI) metrics in different fiber tracts along the spinal cord in general or the corticospinal tract in particular. Here we demonstrate that a tract-specific analysis, with segmentation of ascending and descending tracts in the spinal cord white matter, substantially increases the sensitivity of dMRI to disease-related changes in ALS. Our work also identifies the tracts and spinal levels affected in ALS, supporting electrophysiologic and pathologic evidence of involvement of sensory pathways in ALS. We note changes in diffusion metrics and cord cross-sectional area, with enhanced sensitivity to disease effects through a multimodal analysis, and with strong correlations between these metrics and spinal components of ALSFRS-R.
Transcriptome-wide association study for restless legs syndrome identifies new susceptibility genes
Authors: Akçimen Fulya , Sarayloo Faezeh , Liao Calwing , Ross Jay P. , Oliveira Rachel De Barros , Dion Patrick A. , Rouleau Guy A. 
Published: July 2020

AbstractRestless legs syndrome (RLS) is a common neurological condition, with a prevalence of 5–15% in Central Europe and North America. Although genome-wide association studies (GWAS) have identified some common risk regions for RLS, the causal genes have yet to be fully elucidated. We conducted a transcriptome-wide association study involving 15,126 RLS cases and 95,725 controls, from the most recent meta-analysis of GWAS, and gene expression weights of GTEx v7 and the CMC dorsolateral prefrontal cortex tissue panels. We identified 13 associations (in 8 independent loci) at the transcriptome-wide significant level, of which 6 were not implicated in the previous GWAS: SKAP1, SLC36A1, CCDC57, FN3KRP, NCOA6/TRPC4AP. A fine-mapping approach prioritized CMTR1, RP1-153P14.5, PRPF6, and PPP3R1 – to our knowledge, the latter of which is the first RLS-associated gene directly implicated in dopaminergic pathways. Overall, our findings highlight the power of integrating gene expression data with GWAS to prioritize putative causal genes for functional follow-up studies.
Spontaneous redox continuum reveals sequestered technetium clusters and retarded mineral transformation of iron
Authors: Boglaienko Daria , Soltis Jennifer A. , Kukkadapu Ravi K. , Du Yingge , Sweet Lucas E. , Holfeltz Vanessa E. , Hall Gabriel B. , Buck Edgar C. , Segre Carlo U. , Emerson Hilary P. , Katsenovich Yelena , Levitskaia Tatiana G. 
Published: July 2020

AbstractThe sequestration of metal ions into the crystal structure of minerals is common in nature. To date, the incorporation of technetium(IV) into iron minerals has been studied predominantly for systems under carefully controlled anaerobic conditions. Mechanisms of the transformation of iron phases leading to incorporation of technetium(IV) under aerobic conditions remain poorly understood. Here we investigate granular metallic iron for reductive sequestration of technetium(VII) at elevated concentrations under ambient conditions. We report the retarded transformation of ferrihydrite to magnetite in the presence of technetium. We observe that quantitative reduction of pertechnetate with a fraction of technetium(IV) structurally incorporated into non-stoichiometric magnetite benefits from concomitant zero valent iron oxidative transformation. An in-depth profile of iron oxide reveals clusters of the incorporated technetium(IV), which account for 32% of the total retained technetium estimated via X-ray absorption and X-ray photoelectron spectroscopies. This corresponds to 1.86 wt.% technetium in magnetite, providing the experimental evidence to theoretical postulations on thermodynamically stable technetium(IV) being incorporated into magnetite under spontaneous aerobic redox conditions.
Analysis of 1-aminoisoquinoline using the signal amplification by reversible exchange hyperpolarization technique
Authors: Jeong Hye Jin , Min Sein , Jeong Keunhong 
Published: July 2020

1-aminoisoquinoline (1-AIQ), is successfully hyperpolarized in diverse solvent systems using SABRE. Additionally, the polarization transfer mechanism of 1-AIQ is explained by comparing to pyridine using density functional theory (DFT) calculations.
The Utility of Speech-Language Biomarkers to Predict Oral Feeding Outcomes in the Premature Newborn
Authors: Bartolome Ruby , Kaneko-Tarui Tomoko , Maron Jill , Zimmerman Emily 
Published: July 2020

Purpose

Successful oral feeding and speech emergence are dependent upon the coordination of shared oral muscles and facial nerves. We aimed to determine if the speech-associated genes,

forkhead box P2
(FOXP2)
, contactin-associated protein-like 2
(CNTNAP2
), glutamate receptor, ionotropic, N-methyl D-aspartate 2A
(GRIN2A)
,

and
neurexin 1,
were detectable in neonatal saliva and could predict feeding outcomes in premature newborns.

Method
In this prospective, observational, preliminary study, saliva collected from 51 premature infants (gestational ages: 30–34 6/7 weeks) at different stages of oral feeding development underwent gene expression analysis. Binary (+/–) expression profiles were explored and examined in relation to days to achieve full oral feeds.

Results

GRIN2A
and
neurexin 1
rarely amplified in neonatal saliva and were not informative. Infants who amplified
FOXP2
but not
CNTNAP2
at the start of oral feeds achieved oral feeding success 3.20 (95% CI [−2.5, 8.9]) days sooner than other gene combinations.

Conclusions

FOXP2
and
CNTNAP2
may be informative in predicting oral feeding outcomes in newborns. Salivary analysis at the start of oral feeding trials may inform feeding outcomes in this population and warrants further investigation.
Non-oxidative Energy Supply Correlates with Lactate Transport and
Removal in Trained Rowers
Authors: Maciejewski Hugo , Bourdin Muriel , Féasson Léonard , Dubouchaud Hervé , Messonnier Laurent André 
Published: July 2020

AbstractThis study aimed to test if the non-oxidative energy supply (estimated by the
accumulated oxygen deficit) is associated with an index of muscle lactate
accumulation during exercise, muscle monocarboxylate transporter content and the
lactate removal ability during recovery in well-trained rowers. Seventeen rowers
completed a 3-min all-out exercise on rowing ergometer to estimate the
accumulated oxygen deficit. Blood lactate samples were collected during the
subsequent passive recovery to assess individual blood lactate curves, which
were fitted to the bi-exponential time function:
La(t)= [La](0)+A1·(1–e–γ
1
t)+A2·(1–e–γ
2
t), where the velocity constants γ1 and
γ2 (min–1) denote the lactate exchange
and removal abilities during recovery, respectively. The accumulated oxygen
deficit was correlated with the net amount of lactate released from the
previously active muscles (r =0.58, P<0.05), the monocarboxylate
transporters MCT1 and MCT4 (r=0.63, P<0.05) and
γ2 (r=0.55, P<0.05).
γ2 and the lactate release rate at exercise completion
were negatively correlated with citrate synthase activity. These findings
suggest that the capacity to supply non-oxidative energy during supramaximal
rowing exercise is associated with muscle lactate accumulation and transport, as
well as lactate removal ability.
Impact of Physical Education on Changes in Students’
Emotional Competence: A Meta-analysis
Authors: Cho Ooksang 
Published: July 2020

AbstractThe theoretical background related to how physical activity positively influences
children and adolescents’ brain function for social and emotional
competency has been stably structured. However, according to our review of the
literature, no study has synthetically analyzed physical education interventions
that produce positive outcomes related to learners’ emotional status.
Therefore, the aim of the study was to systematically analyze the effectiveness
of physical education interventions designed to improve students’
emotional ability. In October 2017, we searched electronic research databases
for intervention studies that analyzed the impact of school physical education
on students’ emotional changes. We assessed the risk of bias, extracted
data, and conducted meta-analysis to determine the effectiveness of physical
education intervention. From an initial pool of 1200 non-duplicate records, 12
studies fulfilled the inclusion criteria. The effectiveness of school-based
physical education was analyzed by calculating standard mean difference. Based
on the results of the meta-analysis, students in intervention conditions changed
their psychological conditions compared with students in usual practice
conditions (standardized mean difference=0.30, 95% confidence
interval=− 0.05−0.66). Physical and sport
education for children and adolescents has positively influenced changes in
their emotional conditions.
Exercise-induced Nitric Oxide Contributes to Spatial Memory and
Hippocampal Capillaries in Rats
Authors: Qi Yingqiang , Wang Sanrong , Luo Yanmin , Huang Wei , Chen Linmu , Zhang Yi , Liang Xin , Tang Jing , Zhang Yang , Zhang Lei , Chao Fenglei , Gao Yuan , Zhu Yanqing , Tang Yong 
Published: July 2020

AbstractExercise has been argued to improve cognitive function in both humans and
rodents. Angiogenesis significantly contributes to brain health, including
cognition. The hippocampus is a crucial brain region for cognitive function.
However, studies quantifying the capillary changes in the hippocampus after
running exercise are lacking. Moreover, the molecular details underlying the
effects of running exercise remain poorly understood. We show that
endogenous nitric oxide contributes to the beneficial effects of running
exercise on cognition and hippocampal capillaries. Four weeks of running
exercise significantly improved spatial memory ability and increased the
number of capillaries in the cornu ammonis 1 subfield and dentate gyrus of
Sprague-Dawley rats. Running exercise also significantly increased nitric
oxide synthase activity and nitric oxide content in the rat hippocampus.
After blocking the synthesis of endogenous nitric oxide by lateral
ventricular injection of NG-nitro-L-arginine methyl ester, a nonspecific
nitric oxide synthase inhibitor, the protective effect of running exercise
on spatial memory was eliminated. The protective effect of running exercise
on angiogenesis in the cornu ammonis 1 subfield and dentate gyrus of rats
was also absent after nitric oxide synthase inhibition. Therefore, during
running excise, endogenous nitric oxide may contribute to regulating spatial
memory ability and angiogenesis in cornu ammonis 1 subfield and dentate
gyrus of the hippocampus.
A De Novo BSCL2 Gene S90L Mutation in a Progressive Tetraparesis with Urinary Dysfunction and Corpus Callosum Involvement
Authors: Ramos-Lopes Joana , Ribeiro Joana , Laço Mário , Alves Cristina , Matos Anabela , Costa Cármen 
Published: July 2020

AbstractA Silver syndrome is a rare autosomal dominant spastic paraparesis in which spasticity of the lower limbs is accompanied by amyotrophy of the small hand muscles. The causative gene is the Berardinelli-Seip congenital lipodystrophy 2 (BSCL2), which is related to a spectrum of neurological phenotypes. In the current study, we presented a 14-year-old male with a slowly progressive spastic paraparesis with urinary incontinence that later on exhibited atrophy and weakness in the thenar and dorsal interosseous muscles. Magnetic resonance imaging (MRI) revealed discrete atrophy of the corpus callosum isthmus and an extended next-generation sequencing panel identified a de novo heterozygous mutation in BSCL2 gene, c.269C > T p.(S90L). Various clinical expression and incomplete penetrance of BSCL2 gene mutations complicate the establishment of a genetic etiology for these cases. Therefore, Silver syndrome should be included in the differential diagnosis if the initial presentation is a spastic paraparesis by urinary involvement with childhood-onset, even with MRI atypical findings. This report described the first Iberian Silver syndrome case carrying a de novo c.269C > T p. (S90L) BSCL2 gene mutation.
What science can do for democracy: a complexity science approach
Authors: Eliassi-Rad Tina , Farrell Henry , Garcia David , Lewandowsky Stephan , Palacios Patricia , Ross Don , Sornette Didier , Thébault Karim , Wiesner Karoline 
Published: July 2020

AbstractPolitical scientists have conventionally assumed that achieving democracy is a one-way ratchet. Only very recently has the question of “democratic backsliding” attracted any research attention. We argue that democratic instability is best understood with tools from complexity science. The explanatory power of complexity science arises from several features of complex systems. Their relevance in the context of democracy is discussed. Several policy recommendations are offered to help (re)stabilize current systems of representative democracy.
Ultra-smooth ultrathin silver films deposited on acid treated Silicon substrates
Authors: Asad Muhammad , Jalil Sohail A , ElKabbash Mohamed , Guo Chunlei 
Published: July 2020

Abstract
Fabrication of smooth noble metal ultrathin films is crucial to many optical and electronic devices. However, the metals’ adatom-adatom cohesive force is usually stronger than the adatom-substrate adhesive force leading to a Vollmer-Weber, island-like, growth mode. This phenomenon imposes limitations on the surface smoothness and minimum (percolation) thickness necessary to obtain a smooth film. Here, we demonstrate a facile method to fabricate ultra-smooth ultrathin silver (Ag) films on silicon via physical vapor deposition. By removing the oxide layer on silicon substrates using a hydrofluoric acid treatment, Ag atoms bind strongly to the energetically favorable silicon atoms leading to smooth Ag films. We compare the results for Ag deposited on HF treated and untreated Si substrates for different Ag thicknesses. Our results show that HF acid treatment and annealing lead to a significant reduction in the surface roughness (∼0.5 nm), narrower peak-to-valley height distribution, and higher Kurtosis. Continuous Ag films were obtained down to Ag thickness of 5 nm. We expect our results to play a crucial role in minimizing electronic and optical losses for optoelectronic, plasmonic and optical metamaterial devices.
OPUS-TASS: a protein backbone torsion angles and secondary structure predictor based on ensemble neural networks
Authors: Xu Gang , Wang Qinghua , Ma Jianpeng 
Published: July 2020

Abstract

Motivation
Predictions of protein backbone torsion angles (ϕ and ψ) and secondary structure from sequence are crucial subproblems in protein structure prediction. With the development of deep learning approaches, their accuracies have been significantly improved. To capture the long-range interactions, most studies integrate bidirectional recurrent neural networks into their models. In this study, we introduce and modify a recently proposed architecture named Transformer to capture the interactions between the two residues theoretically with arbitrary distance. Moreover, we take advantage of multitask learning to improve the generalization of neural network by introducing related tasks into the training process. Similar to many previous studies, OPUS-TASS uses an ensemble of models and achieves better results.

Results
OPUS-TASS uses the same training and validation sets as SPOT-1D. We compare the performance of OPUS-TASS and SPOT-1D on TEST2016 (1213 proteins) and TEST2018 (250 proteins) proposed in the SPOT-1D paper, CASP12 (55 proteins), CASP13 (32 proteins) and CASP-FM (56 proteins) proposed in the SAINT paper, and a recently released PDB structure collection from CAMEO (93 proteins) named as CAMEO93. On these six test sets, OPUS-TASS achieves consistent improvements in both backbone torsion angles prediction and secondary structure prediction. On CAMEO93, SPOT-1D achieves the mean absolute errors of 16.89 and 23.02 for ϕ and ψ predictions, respectively, and the accuracies for 3- and 8-state secondary structure predictions are 87.72 and 77.15%, respectively. In comparison, OPUS-TASS achieves 16.56 and 22.56 for ϕ and ψ predictions, and 89.06 and 78.87% for 3- and 8-state secondary structure predictions, respectively. In particular, after using our torsion angles refinement method OPUS-Refine as the post-processing procedure for OPUS-TASS, the mean absolute errors for final ϕ and ψ predictions are further decreased to 16.28 and 21.98, respectively.

Availability and implementation
The training and the inference codes of OPUS-TASS and its data are available at https://github.com/thuxugang/opus_tass.

Supplementary information
Supplementary data are available at Bioinformatics online.
High sodium intake, glomerular hyperfiltration, and protein catabolism in patients with essential hypertension
Authors: Rossitto Giacomo , Maiolino Giuseppe , Lerco Silvia , Ceolotto Giulio , Blackburn Gavin , Mary Sheon , Antonelli Giorgia , Berton Chiara , Bisogni Valeria , Cesari Maurizio , Seccia Teresa Maria , Lenzini Livia , Pinato Alessio , Montezano Augusto , Touyz Rhian M , Petrie Mark C , Daly Ronan , Welsh Paul , Plebani Mario , Rossi Gian Paolo , Delles Christian 
Published: July 2020

Abstract

Aims
A blood pressure (BP)-independent metabolic shift towards a catabolic state upon high sodium (Na+) diet, ultimately favouring body fluid preservation, has recently been described in pre-clinical controlled settings. We sought to investigate the real-life impact of high Na+ intake on measures of renal Na+/water handling and metabolic signatures, as surrogates for cardiovascular risk, in hypertensive patients.

Methods and results
We analysed clinical and biochemical data from 766 consecutive patients with essential hypertension, collected at the time of screening for secondary causes. The systematic screening protocol included 24 h urine (24 h-u-) collection on usual diet and avoidance of renin–angiotensin–aldosterone system-confounding medications. Urinary 24 h-Na+ excretion, used to define classes of Na+ intake (low ≤2.3 g/day; medium 2.3–5 g/day; high &gt;5 g/day), was an independent predictor of glomerular filtration rate after correction for age, sex, BP, BMI, aldosterone, and potassium excretion [P = 0.001; low: 94.1 (69.9–118.8) vs. high: 127.5 (108.3–147.8) mL/min/1.73 m2]. Renal Na+ and water handling diverged, with higher fractional excretion of Na+ and lower fractional excretion of water in those with evidence of high Na+ intake [FENa: low 0.39% (0.30–0.47) vs. high 0.81% (0.73–0.98), P &lt; 0.001; FEwater: low 1.13% (0.73–1.72) vs. high 0.89% (0.69–1.12), P = 0.015]. Despite higher FENa, these patients showed higher absolute 24 h Na+ reabsorption and higher associated tubular energy expenditure, estimated by tubular Na+/ATP stoichiometry, accordingly [Δhigh–low = 18 (12–24) kcal/day, P &lt; 0.001]. At non-targeted liquid chromatography/mass spectrometry plasma metabolomics in an unselected subcohort (n = 67), metabolites which were more abundant in high versus low Na+ intake (P &lt; 0.05) mostly entailed intermediates or end products of protein catabolism/urea cycle.

Conclusion
When exposed to high Na+ intake, kidneys dissociate Na+ and water handling. In hypertensive patients, this comes at the cost of higher glomerular filtration rate, increased tubular energy expenditure, and protein catabolism from endogenous (muscle) or excess exogenous (dietary) sources. Glomerular hyperfiltration and the metabolic shift may have broad implications on global cardiovascular risk independent of BP.
Salt and cardiovascular disease: insufficient evidence to recommend low sodium intake
Authors: O’Donnell Martin , Mente Andrew , Alderman Michael H , Brady Adrian J B , Diaz Rafael , Gupta Rajeev , López-Jaramillo Patricio , Luft Friedrich C , Lüscher Thomas F , Mancia Giuseppe , Mann Johannes F E , McCarron David , McKee Martin , Messerli Franz H , Moore Lynn L , Narula Jagat , Oparil Suzanne , Packer Milton , Prabhakaran Dorairaj , Schutte Alta , Sliwa Karen , Staessen Jan A , Yancy Clyde , Yusuf Salim 
Published: July 2020

Abstract
Several blood pressure guidelines recommend low sodium intake (&lt;2.3 g/day, 100 mmol, 5.8 g/day of salt) for the entire population, on the premise that reductions in sodium intake, irrespective of the levels, will lower blood pressure, and, in turn, reduce cardiovascular disease occurrence. These guidelines have been developed without effective interventions to achieve sustained low sodium intake in free-living individuals, without a feasible method to estimate sodium intake reliably in individuals, and without high-quality evidence that low sodium intake reduces cardiovascular events (compared with moderate intake). In this review, we examine whether the recommendation for low sodium intake, reached by current guideline panels, is supported by robust evidence. Our review provides a counterpoint to the current recommendation for low sodium intake and suggests that a specific low sodium intake target (e.g. &lt;2.3 g/day) for individuals may be unfeasible, of uncertain effect on other dietary factors and of unproven effectiveness in reducing cardiovascular disease. We contend that current evidence, despite methodological limitations, suggests that most of the world’s population consume a moderate range of dietary sodium (2.3–4.6g/day; 1–2 teaspoons of salt) that is not associated with increased cardiovascular risk, and that the risk of cardiovascular disease increases when sodium intakes exceed 5 g/day. While current evidence has limitations, and there are differences of opinion in interpretation of existing evidence, it is reasonable, based upon observational studies, to suggest a population-level mean target of &lt;5 g/day in populations with mean sodium intake of &gt;5 g/day, while awaiting the results of large randomized controlled trials of sodium reduction on incidence of cardiovascular events and mortality.