bluuebunny/crossref_metadata_2025_split huggingface dataset:
Rare Genetic Variation Underlying Human Diseases and Traits: Results from 200,000 Individuals in the UK Biobank
Authors: Jurgens Sean J. , Choi Seung Hoan , Morrill Valerie N. , Chaffin Mark , Pirruccello James P. , Halford Jennifer L. , Weng Lu-Chen , Nauffal Victor , Roselli Carolina , Hall Amelia W. , Aragam Krishna G. , Lunetta Kathryn L. , Lubitz Steven A. , Ellinor Patrick T. 
Published: November 2020

AbstractBackgroundMany human diseases are known to have a genetic contribution. While genome-wide studies have identified many disease-associated loci, it remains challenging to elucidate causal genes. In contrast, exome sequencing provides an opportunity to identify new disease genes and large-effect variants of clinical relevance. We therefore sought to determine the contribution of rare genetic variation in a curated set of human diseases and traits using a unique resource of 200,000 individuals with exome sequencing data from the UK Biobank.Methods and ResultsWe included 199,832 participants with a mean age of 68 at follow-up. Exome-wide gene-based tests were performed for 64 diseases and 23 quantitative traits using a mixed-effects model, testing rare loss-of-function and damaging missense variants. We identified 51 known and 23 novel associations with 26 diseases and traits at a false-discovery-rate of 1%. There was a striking risk associated with many Mendelian disease genes including:MYPBC3with over a 100-fold increased odds of hypertrophic cardiomyopathy,PKD1with a greater than 25-fold increased odds of chronic kidney disease, andBRCA2, BRCA1, ATMandPALB2with 3 to 10-fold increased odds of breast cancer. Notable novel findings included an association betweenGIGYF1and type 2 diabetes (OR 5.6,P=5.35×10−8), elevated blood glucose, and lower insulin-like-growth-factor-1 levels. Rare variants inCCAR2were also associated with diabetes risk (OR 13,P=8.5×10−8), whileCOL9A3was associated with cataract (OR 3.4,P=6.7×10−8). Notable associations for blood lipids and hypercholesterolemia includedNR1H3, RRBP1, GIGYF1, SCGN, APH1A, PDE3BandANGPTL8. A number of novel genes were associated with height, includingDTL, PIEZO1, SCUBE3, PAPPAandADAMTS6, whileBSNwas associated with body-mass-index. We further assessed putatively pathogenic variants in known Mendelian cardiovascular disease genes and found that between 1.3 and 2.3% of the population carried likely pathogenic variants in known cardiomyopathy, arrhythmia or hypercholesterolemia genes.ConclusionsLarge-scale population sequencing identifies known and novel genes harboring high-impact variation for human traits and diseases. A number of novel findings, includingGIGYF1,represent interesting potential therapeutic targets. Exome sequencing at scale can identify a meaningful proportion of the population that carries a pathogenic variant underlying cardiovascular disease.
Effect of the transversal-spacing of stirrup-legs on the behavior and strength of shallow concealed RC beams
Authors: Alluqmani Ayed Eid 
Published: November 2020

Purpose
Shallow concealed reinforced concrete (RC) beams (wide beams) make parts of a structure and are used in the construction industry, especially in ribbed and waffle slab systems. They are designed based on the requirements and provisions of structural codes of practice, which are applicable for shallow dropped RC beams (narrow beams). The main concern in regard to the behavior of these shallow concealed RC beams is transversal-spacing of stirrup-legs across their width. This paper aims to investigate the transversal-spacing of stirrups-legs (Sw) for two shallow concealed RC beams, namely, WB-SC and WB-EC.

Design/methodology/approach
The beams are tested under a three point-loading system. Their design has been performed to the SBC304 for beam WB-SC (Saudi Building Code for concrete structures) and comparison to EC2 for beam WB-EC (Eurocode-2 for concrete structures) is addressed in terms of flexural and shear strength design requirements. Experimental behavior and results of both beams are analyzed and conclusions are provided; also, a comparison of these codes is performed. Both beams had dimensions of 3,400 mm length, 700 mm width and 350 mm height.

Findings
Experimentally, beam WB-SC failed in flexure while beam WB-EC failed shear. The investigation concludes in favor of a safer design for SBC304 Code compared to EC2 Code for designing shallow concealed RC beams.

Originality/value
This study recommends that the transversal-spacing of stirrups-legs of these beams has an influence on their strength and behavior and should not exceed the lesser of 0.56(d) or 170 mm (6.7 in.).
Seismic data interpolation using deep learning with generative adversarial networks
Authors: Kaur Harpreet , Pham Nam , Fomel Sergey 
Published: November 2020

ABSTRACTWe propose an algorithm for seismic trace interpolation using generative adversarial networks, a type of deep neural network. The method extracts feature vectors from the training data using self‐learning and does not require any pre‐processing to create the training labels. The algorithm also does not make any prior explicit assumptions about linearity of seismic events or sparsity of the data, which are often required in the traditional interpolation methods. We create the training labels by removing traces from different receiver indices of the original datasets to simulate the effect of missing traces. We adopt the framework of the generative adversarial networks to train the network and add additional loss functions to regularize the model. Numerical examples using land and marine field datasets demonstrate the validity and effectiveness of the proposed approach. With minimal computational burden and proper training, the proposed method can be applied to three‐dimensional seismic datasets to achieve accurate interpolation results.
Constrained optimization of landscape indices in conservation planning to support ecological restoration in New Caledonia
Authors: Justeau‐Allaire Dimitri , Vieilledent Ghislain , Rinck Nicolas , Vismara Philippe , Lorca Xavier , Birnbaum Philippe 
Published: November 2020

AbstractCurbing habitat loss, reducing fragmentation and restoring connectivity are frequent concerns of conservation planning. In this respect, the incorporation of spatial constraints, fragmentation and connectivity indices into optimization procedures is an important challenge for improving decision support.Here we present a novel optimization approach developed to accurately represent a broad range of conservation planning questions with spatial constraints and landscape indices. Relying on constraint programming, a technique from artificial intelligence based on automatic reasoning, this approach provides both constraint satisfaction and optimality guarantees.We applied this approach in a real case study to support managers of the ‘Côte Oubliée – ‘Woen Vùù – Pwa Pereeù’ provincial park project, in the biodiversity hotspot of New Caledonia. Under budget, accessibility and equitable allocation constraints, we identified restorable areas optimal for reducing forest fragmentation and improving inter‐patch structural connectivity, respectively measured with the effective mesh size and the integral index of connectivity.Synthesis and applications. Our work contributes to more effective and policy‐relevant conservation planning by providing a spatially explicit and problem‐focused optimization approach. By allowing an exact representation of spatial constraints and landscape indices, it can address new questions and ensure whether the solutions will be socio‐economically feasible, through optimality and satisfiability guarantees. Our approach is generic and flexible, thus applicable to a wide range of conservation planning problems, such as ecological restoration planning, reserve or corridor design.
Review article: Implicit bias towards Aboriginal and Torres Strait Islander patients within Australian emergency departments
Authors: Quigley Alyssa , Hutton Jennie , Phillips Georgina , Dreise Darlene , Mason Toni , Garvey Gail , Paradies Yin 
Published: November 2020

AbstractAboriginal and Torres Strait Islander peoples continue to suffer adverse experiences in healthcare, with inequitable care prevalent in emergency settings. Individual, institutional and systemic factors play a significant part in these persisting healthcare disparities, with biases remaining entrenched in healthcare institutions. This includes implicit racial bias which can result in stereotyping of racial minorities and premature diagnostic closure. Furthermore, it may contribute to distrust of medical professionals resulting in higher rates of leave events and hinder racial minorities from seeking care or following treatment recommendations. The aim of this review is to analyse the effect of implicit bias on patient outcomes in the ED in international literature and explore how these studies correlate to an Australian context.
Development of a nanoparticle delivery system based on zein/polysaccharide complexes
Authors: Li Ming , Yu Meihui 
Published: November 2020

AbstractZein, an alcohol‐soluble protein in corn, can self‐assemble into spherical nanoparticles, which makes it an ideal carrier material for the encapsulation of hydrophobic bioactive molecules. However, zein nanoparticles easily aggregate in water and are sensitive to enzymatic degradation in the digestive system. A strategy to overcome their limitations is the incorporation of polysaccharides as a second polymer layer that provides stability to zein nanoparticles. This review introduces the characteristics of zein as they relate to understanding the formation of zein/polysaccharide nanoparticles. Particular attention is paid to the preparation methods for the zein/polysaccharide nanoparticles, as well as to the morphological observation methods and detection mechanism. Moreover, the properties and applications of zein/polysaccharide nanoparticles are highlighted.
Recent advances in the use of edible coatings for preservation of avocados: A review
Authors: Garcia Franciela , Davidov‐Pardo Gabriel 
Published: November 2020

AbstractAvocados (Persea americana) are a fruit, whose shelf‐life is jeopardized by rapid ripening and fungal diseases, which heighten the necessity for postharvest treatments. The use of refrigeration during storage and transport helps delay the ripening process and phytopathogen growth but it is not enough to attenuate the problem, especially once avocados are placed in ambient temperatures. Fungicides are effective in controlling fungal prevalence, but their possible adverse environmental and human health effects have spurred interest in finding safer, natural substitutes. The objective of this paper is to review recent advances and trends in the use of edible coatings as a safe alternative to preserve and extend avocados shelf‐life.Edible biopolymer coatings have gained considerable attention due to their ability to extend fruit and vegetable shelf‐life. These coatings are a novel type of biodegradable primary packaging made from biological compounds like polysaccharides, proteins, lipids, and other polymers. Coatings are considered nonactive if they only form a physical barrier, separating avocados from their immediate environment, controlling gas and moisture transfer. Active coatings can contain supplementary ingredients with additional properties like antioxidant and antifungal activity. The application of edible coatings shows promising potential in extending avocado shelf‐life, replacing synthetic fungicides and reducing economic losses from avocado spoilage.
Sensitivity of oat protein solubility to changing ionic strength and pH
Authors: Li Runnan , Xiong Youling L. 
Published: November 2020

AbstractUnderstanding the relationship between ionic strength and protein solubility is essential to the utilization of salt in the formulation design of plant protein‐based food and beverage products. In this study, suspensions of oat protein isolate (OPI) were treated with two kinds of common salts (sodium chloride NaCl; sodium phosphate NaP) at different ionic strengths (I). Electrical conductivity, protein solubility, particle size, and protein profile (sodium dodecyl sulfate–polyacrylamide gel electrophoresis) were analyzed. The results showed the highest protein solubility at extremely low I (< 0.005 for NaCl; < 0.012 for NaP) and a minimum solubility at I 0.03 to 0.2 depending on the type of salt. Particle size and electrophoretic patterns supported the solubility profile. The combination effect of ionic strength and pH was also investigated. A characteristic U‐shaped solubility curve observed within pH 2.0 to 8.0 at low ionic strengths (I < 0.01) was altered by increasing the salt concentration. The findings demonstrate that ionic strength and ion species play a crucial role in oat protein solubility, and the ionic effect can be modified by changing the pH. Therefore, the application of appropriate salt concentrations is vitally important to the manufacture of oat protein‐based food products.Practical ApplicationSodium chloride and phosphate are two of the most widely utilized salts in food processing. This study highlights the relationship between ionic strength of the two salts and oat protein solubility at different pH levels, providing useful information for selecting proper salt concentrations in the manufacture of oat protein‐based food products.
Kappa‐carrageenan and its oligosaccharides maintain the physicochemical properties of myofibrillar proteins in shrimp mud (Xia‐Hua) during frozen storage
Authors: Shui Shan‐shan , Qi He , Shaimaa Hatab , Aubourg Santiago P. , Zhang Bin 
Published: November 2020

AbstractAs a popular hot‐pot ingredient, Chinese‐style shrimp mud (Xia‐Hua) is usually transported and stored frozen. However, frozen storage leads to decreased quality of Xia‐Hua products caused by the variations in physicochemical and functional properties of myofibrillar proteins (MPs). Κ‐carrageenan and its oligosaccharides are reported as antioxidants and antifreeze and can stabilize proteins in whole shrimp, but their effects on MPs in Xia‐Hua remain poorly understood. Compared to the control and Na4P2O7 treatments, the physicochemical properties of MPs in κ‐carrageenan and its oligosaccharides‐incorporated Xia‐Hua were evaluated during 120 days of frozen storage. The results showed that cold stress increased the susceptibility of MPs to denaturation and oxidation during frozen storage. Carrageenan oligosaccharides maintained the turbidity, emulsifying activity, stability, and foaming capacity of MPs. Oxidation analysis showed that the incorporation of carrageenan oligosaccharides significantly retarded the rapid decrease of Ca2+‐ATPase activity, total sulphydryl and active sulphydryl contents, and also effectively inhibited the increases of carbonyl content and surface hydrophobicity of MPs. Thermal stability results confirmed that the oligosaccharides improved the denaturation temperature and enthalpy of MPs compared to the control, Na4P2O7, and carrageenan treatments. This study suggests that κ‐carrageenan and its oligosaccharides maintain the properties of MPs in Xia‐Hua during frozen storage.Practical ApplicationThe cryoprotection and antioxidant effects of carrageenan oligosaccharides on the stability of MPs in frozen shrimp mud can be used to extend the shelf‐life and maintain the quality of frozen Xia‐Hua products. Furthermore, it can drive the development of aquatic product health industry, improve the quality and safety of aquatic products, reduce the occurrence of public food safety incidents, and maintain social stability.
The impact of ferritin on the disassociation of HbA1c and mean plasma glucose
Authors: Li Yufeng , Zhang Fang , Zhang Xiuying , Fu Zuodi , Wang Lianying , Zhao Cuiling , Guo Guangxia , Zhou Xianghai , Ji Linong 
Published: November 2020

AbstractObjectiveTo explore the impact of ferritin level on the disassociation of glycated hemoglobin A1c (HbA1c) and mean plasma glucose (MPG).Reseach Design and MethodsWe used a 2012‐2013 cross‐sectional survey conducted in Pinggu district, Beijing including 3095 Chinese participants aged 25‐75 years. We categorized their glycemic status by interviewing for diagnosed diabetes and by measuring HbA1c, fasting plasma glucose (FPG), and 2‐hours post‐load plasma glucose (2‐hours PPG). We fitted a multivariable regression model to explore the impact of ferritin on the association of HbA1c or glycated albumin (GA) and mean plasma glucose.ResultsA total of 5.65% of participants were diagnosed as diabetes using HbA1c criteria, and 9.79% using oral glucose tolerance test criteria. Compared with males, females had significantly lower hemoglobin levels (159.82 ± 11.56 vs 135.93 ± 12.62) and lower ferritin levels (113.00 [68.55, 185.50] vs 33.40 [12.40, 70.13]). Linear regression analysis performed in different groups classified by different diagnose criterion indicated that the correlation between MPG and HbA1c differs in different tertiles of ferritin (lowest vs middle vs highest: R2 = 0.507 vs 0.645 vs 0.687 in female; R2 = 0.415 vs 0.715 vs 0.615 in male), and the association between MPG and HbA1c diminished in the lowest tertile of ferritin.ConclusionsFerritin level might affect the association between glucose and HbA1c, which should be taken into account when using HbA1c as a diagnosis criterion for diabetes and prediabetes.
Clinically meaningful changes on depressive symptom measures and patient‐reported outcomes in patients with treatment‐resistant depression
Authors: Turkoz Ibrahim , Alphs Larry , Singh Jaskaran , Jamieson Carol , Daly Ella , Shawi May , Sheehan John J. , Trivedi Madhukar H. , Rush A. John 
Published: November 2020

AbstractObjectiveTo use the Clinical Global Impression‐Severity (CGI‐S) scale to estimate clinically meaningful and clinically substantial changes as measured using the Montgomery‐Åsberg Depression Rating Scale (MADRS), the Sheehan Disability Scale (SDS), and the Patient Health Questionnaire‐9 (PHQ‐9) in patients with treatment‐resistant depression (TRD).MethodsPooled data were derived from two 4‐week, randomized, active‐controlled studies evaluating esketamine nasal spray (ESK) plus oral antidepressant (OAD) or OAD plus placebo nasal spray (PBO) in adults with TRD (N = 565). CGI‐S, MADRS, SDS, and PHQ‐9 scores were obtained at baseline and over 4 weeks of treatment. In this post hoc analysis, change scores on the MADRS, SDS, and PHQ‐9 that corresponded to a clinically meaningful (1‐point) or clinically substantial (2‐point) change on the CGI‐S scale were identified.ResultsClinically meaningful changes in CGI‐S scores after 28 days corresponded to 6‐, 4‐, and 3‐point changes from baseline on the MADRS, SDS, and PHQ‐9, respectively. Similarly, a 2‐point CGI‐S score change (clinically substantial change) corresponded to a 12‐, 8‐, and 6‐point change on the MADRS, SDS, and PHQ‐9, respectively. The proportion of patients showing substantial clinical improvement in the ESK plus OAD group versus the OAD plus PBO group after 28 days of treatment favored ESK plus OAD: 69.0% vs 55.3% (MADRS), 64.5% vs 48.9% (SDS), and 77.1% vs 64.7% (PHQ‐9).ConclusionWe provide a basis for identifying clinically meaningful and clinically substantial changes as assessed with commonly used outcome measures for depression to facilitate the translation of clinical trial results into clinical practice.
Ecological niche modeling reveals manta ray distribution and conservation priority areas in the Western Central Atlantic
Authors: Garzon F. , Graham R. T. , Witt M. J. , Hawkes L. A. 
Published: November 2020

AbstractThe Western Central Atlantic (WCA) hosts a population of manta rays whose distribution and habitat preference is poorly understood. Addressing this lack of knowledge will be essential to aid the effective implementation of targeted conservation measures. Here, we use ensemble ecological niche modeling to predict the monthly distribution of manta rays in the WCA using multiple sources of species occurrence data, and consequently identify core areas, which represent suitable habitat in all months of the year. Models suggest a seasonal cycle of expansion and contraction of suitable habitat from coastal areas in spring‐summer, to open ocean in autumn‐winter. Core areas are concentrated along the coast of the USA, Mexico, and Venezuela. Only 24% of predicted suitable habitat is encompassed by the present regional network of MPAs, and is intersected by numerous, heavily trafficked shipping lanes. Manta rays are slow‐growing animals that only produce a limited number of offspring; as such, this species is sensitive to even moderate increases in mortality rates. For this reason, the existing regional network of MPAs may offer them limited protection. As manta rays in the WCA are challenged by a complex landscape of threats and protective measures, future marine conservation planning in the region should explicitly address the conservation of manta rays, focusing on areas identified as key habitats for the species.
Calcium hydroxide paste removal strategies and bond strengths of epoxy‐ and silicate‐based sealers
Authors: Tavella e Silva Nathalia Cristina , Gibin Janaina Tosta , Rivera Izabela Cristina Maurício Moris , Rached Junior Fuad Jacob Abi , Leoni Graziela Bianchi , Raucci‐Neto Walter 
Published: November 2020

AbstractThis study evaluated the syringe/needle (SN), passive ultrasonic irrigation (PUI) and XP‐endo Finisher (XP) in the removal of Ca(OH)2‐based paste and the bond strength (BS) values of an epoxy resin (AH Plus) and silicate (MTA)‐based sealers to root dentin. Eighty lower premolars were assigned: control group (CT), SN, PUI and XP, and subdivided according to the sealer (n = 10) for BS. SN has the lowest removal followed by PUI and XP. AH Plus had higher BS for CT compared with SN in all root thirds. CT and XP presented similar BS in the apical and middle thirds and higher than SN and PUI. For MTA, similar BS was observed in the cervical and apical thirds, and in the middle third, CT, PUI and XP presented similar values and higher than SN. PUI and XP methods presented higher efficiency in the Ca(OH)2 removal, and the residual Ca(OH)2 provides a reduction in BS of the AH Plus.
Notes on the gross anatomy of the heart of the broad‐snouted caiman, Caiman latirostris (Daudin, 1802)
Authors: de Oliveira Lima Mariana , Nóbrega Yhuri Cardoso , de Deus Santos Marcelo Renan , de Carvalho Nunes Louisiane , Figueiredo Rodrigo Giesta , da Silva Maria Aparecida 
Published: November 2020

AbstractThe broad‐snouted caiman, Caiman latirostris (Daudin, 1802), is one of the six crocodilian species from Brazil. The topography, morphology and morphometry of the broad‐snouted caiman heart were studied. Data were obtained from the necropsy of four adult animals, three females and one male. The hearts were removed from the coelomic cavity and fixed in 10% formalin for 48 hr for morphological and morphometric description. The heart is in the cranial mediastinum. It is caudally involved by the liver cranial margins, and ventrally by the ribs, intercostal muscles, and sternum and dorsally by the lungs. The four‐chambered morphology is typical with two (right and left) atria and ventricles. Right and left aortic, pulmonary and subclavian arteries branch from the truncus arteriosus. Gubernaculum cordis is present as ligamentous folds uniting the heart apex to the pericardium. Main morphometric means are the apex‐to‐base length (49.86 mm), circumference (105.25 mm) and heart weight (45.03 g). The right atrium is craniocaudally longer with thicker walls, whereas the left ventricle is narrower. The topography, morphology and morphometry of the heart of C. latirostris are consistent with the anatomy of other crocodilian species.