bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identifying Ashkenazi Jewish BRCA1/2 founder variants in individuals who do not self-report Jewish ancestry
Authors: Tennen Ruth I. , Laskey Sarah B. , Koelsch Bertram L. , McIntyre Matthew H. , Tung Joyce Y. 
Published: May 2020

AbstractCurrent guidelines recommend BRCA1 and BRCA2 genetic testing for individuals with a personal or family history of certain cancers. Three BRCA1/2 founder variants — 185delAG (c.68_69delAG), 5382insC (c.5266dupC), and 6174delT (c.5946delT) — are common in the Ashkenazi Jewish population. We characterized a cohort of more than 2,800 research participants in the 23andMe database who carry one or more of the three Ashkenazi Jewish founder variants, evaluating two characteristics that are typically used to recommend individuals for BRCA testing: self-reported Jewish ancestry and family history of breast, ovarian, prostate, or pancreatic cancer. Of the 1,967 carriers who provided self-reported ancestry information, 21% did not self-report Jewish ancestry; of these individuals, more than half (62%) do have detectable Ashkenazi Jewish genetic ancestry. In addition, of the 343 carriers who provided both ancestry and family history information, 44% did not have a first-degree family history of a BRCA-related cancer and, in the absence of a personal history of cancer, would therefore be unlikely to qualify for clinical genetic testing. These findings may help inform the discussion around broader access to BRCA genetic testing.
Deforestation and world population sustainability: a quantitative analysis
Authors: Bologna Mauro , Aquino Gerardo 
Published: May 2020

AbstractIn this paper we afford a quantitative analysis of the sustainability of current world population growth in relation to the parallel deforestation process adopting a statistical point of view. We consider a simplified model based on a stochastic growth process driven by a continuous time random walk, which depicts the technological evolution of human kind, in conjunction with a deterministic generalised logistic model for humans-forest interaction and we evaluate the probability of avoiding the self-destruction of our civilisation. Based on the current resource consumption rates and best estimate of technological rate growth our study shows that we have very low probability, less than 10% in most optimistic estimate, to survive without facing a catastrophic collapse.
Learning physical properties of liquid crystals with deep convolutional neural networks
Authors: Sigaki Higor Y. D. , Lenzi Ervin K. , Zola Rafael S. , Perc Matjaž , Ribeiro Haroldo V. 
Published: May 2020

AbstractMachine learning algorithms have been available since the 1990s, but it is much more recently that they have come into use also in the physical sciences. While these algorithms have already proven to be useful in uncovering new properties of materials and in simplifying experimental protocols, their usage in liquid crystals research is still limited. This is surprising because optical imaging techniques are often applied in this line of research, and it is precisely with images that machine learning algorithms have achieved major breakthroughs in recent years. Here we use convolutional neural networks to probe several properties of liquid crystals directly from their optical images and without using manual feature engineering. By optimizing simple architectures, we find that convolutional neural networks can predict physical properties of liquid crystals with exceptional accuracy. We show that these deep neural networks identify liquid crystal phases and predict the order parameter of simulated nematic liquid crystals almost perfectly. We also show that convolutional neural networks identify the pitch length of simulated samples of cholesteric liquid crystals and the sample temperature of an experimental liquid crystal with very high precision.
Multilayer Substrate to Use Brittle Materials in Flexible Electronics
Authors: Park Seongmin , Park Hyuk , Seong Suwon , Chung Yoonyoung 
Published: May 2020

AbstractFlexible materials with sufficient mechanical endurance under bending or folding is essential for flexible electronic devices. Conventional rigid materials such as metals and ceramics are mostly brittle so that their properties can deteriorate under a certain amount of strain. In order to utilize high-performance, but brittle conventional materials in flexible electronics, we propose a novel flexible substrate structure with a low-modulus interlayer. The low-modulus interlayer reduces the surface strain, where active electronic components are placed. The bending results with indium tin oxide (ITO) show that a critical bending radius, where the conductivity starts to deteriorate, can be reduced by more than 80% by utilizing the low-modulus layer. We demonstrate that even rigid electrodes can be used in flexible devices by manipulating the structure of flexible substrate.
Toxicity of ten herbicides to the tropical marine microalgae Rhodomonas salina
Authors: Thomas Marie C. , Flores Florita , Kaserzon Sarit , Fisher Rebecca , Negri Andrew P. 
Published: May 2020

AbstractHerbicide contamination of nearshore tropical marine ecosystems is widespread and persistent; however, risks posed by most ‘alternative’ herbicides to tropical marine microalgae remain poorly understood. Experimental exposures of the important but understudied microalgae Rhodomonas salina to seven individual Photosystem II (PSII) inhibitor herbicides (diuron, metribuzin, hexazinone, tebuthiuron, bromacil, simazine, propazine) led to inhibition of effective quantum yield (ΔF/Fm′) and subsequent reductions in specific growth rates (SGR). The concentrations which reduced ΔF/Fm′ by 50% (EC50) ranged from 1.71-59.2 µg L−1, while the EC50s for SGR were 4-times higher, ranging from 6.27-188 µg L−1. Inhibition of ΔF/Fm′ indicated reduced photosynthetic capacity, and this correlated linearly with reduced SGR (R2 = 0.89), supporting the application of ∆F/Fm’ inhibition as a robust and sensitive indicator of sub-lethal toxicity of PSII inhibitors for this microalga. The three non-PSII inhibitor herbicides (imazapic, haloxyfop and 2,4-Dichlorophenoxyacetic acid (2,4-D)) caused low or no toxic responses to the function of the PSII or growth at the highest concentrations tested suggesting these herbicides pose little risk to R. salina. This study highlights the suitability of including R. salina in future species sensitivity distributions (SSDs) to support water quality guideline development for the management of herbicide contamination in tropical marine ecosystems.
Production of gold/silver doped carbon nanocomposites for effective photothermal therapy of colon cancer
Authors: Liu Fang , Wang Xiao-di , Du Shi-yu 
Published: May 2020

AbstractSurgery followed by adjuvant chemotherapy is a reliable therapy for colon cancer, but is associated with side effects and risks. Recent advancements in nanobioengineering in the form of targeted nanoparticles, cubosomes, liposomes, nanosheets, nanorods, quantum dots have generated substantial advancements in theranostics of colon cancer decreasing the cytotoxic drugs’ side effects. We describe a facile mechanism of preparation of hybrid nanocomposite encompassing Au and Ag. Preparation of hybrid nanocomposite is one step process which may be easily escalated. The nanocomposite was characterized using transmission eleactron microscopy, energy dispersive X-Ray spectroscopy, X-ray photoelectron spectroscopy, Fourier transform infra-red spectroscopy, UV-Vis spectroscopy, photoluminescence and cytotoxic studies. In-vivo studies were carried out in Balb/c mice. Photothermal heating experiments in HeLa cells were promising and the characterization studies clearly indicated the formation of hybrid nanocomposite. In-vivo experiments confirmed the efficacy of treatment, along with involvement of epigenetic regulation, which may be helpful in translation from research to clinical applications.
Polarization-sensitive optical coherence tomography for estimating relative melanin content of autologous induced stem-cell derived retinal pigment epithelium
Authors: Matsuzaki Mitsuhiro , Mandai Michiko , Yamanari Masahiro , Totani Kota , Nishida Mitsuhiro , Sugita Sunao , Maeda Tadao , Koide Naoshi , Takagi Seiji , Hirami Yasuhiko , Miyamoto Noriko , Sugiyama Satoshi , Takahashi Masayo , Kurimoto Yasuo 
Published: May 2020

AbstractTransplantation of autologous human induced pluripotent stem cell-derived retinal pigment epithelial (hiPSC-RPE) sheets is a promising therapy for age-related macular degeneration (AMD). As melanin content is a representative feature of healthy RPE, we used polarization-sensitive optical coherence tomography (PS-OCT) to estimate the relative melanin content of RPE in diseased and non-diseased area, and in human iPSC-RPE sheets in vitro and in vivo by evaluating the randomness of polarization (entropy). Two aged Japanese women, one with neovascular AMD that underwent transplantation of an autologous hiPSC-RPE cell sheet and another with binocular dry AMD, were selected for this study. Entropy value was minimal in cells containing no melanin, whereas that of human RPE and hiPSC-RPE sheets was high. En face entropy of the cultured hiPSC-RPE sheet was compared with its grey-scale photo and its values were found to be inversely correlated with the extent of absence of pigmentation in vitro. En face entropy maps were compared to colour fundus photographs, fundus autofluorescence images, and fluorescein angiography images from patients. Entropy values of intact and defective RPEs and of iPSC-RPE transplant areas were determined in vivo using PS-OCT B-scan images. PS-OCT was found to be applicable in the estimation of relative melanin content of cultured and transplanted RPEs in regenerative medicine.
Gigapixel confocal imaging using a massively parallel optical probe array with single directional infinite scanning
Authors: Shin Ryung , Choi Woojae , Kim Taekyung , Kim Donghyun , Han Runjia , Lee Kyungjin , Won Nahyun , Kang Shinill 
Published: May 2020

AbstractHere we demonstrate high-throughput gigapixel confocal imaging using a massively parallel optical probe array with single directional infinite scanning. For implementation of the single directional infinite scan with high lateral resolution, a parallelogram array micro-objective lens module, composed of two wafer-level microlens arrays, is proposed to generate a massively parallel optical probe array for integration into the confocal imaging system, including an objective-side telecentric relay lens with a low-magnification. To test the feasibility of the proposed system with single directional infinite scanning, we designed and constructed a confocal imaging system using a parallelogram array of multi-optical probes with a massively parallel array size of 200 × 140. The constructed system provides a full width-half maximum lateral resolution of 1.55 μm, as measured by the knife-edge detection method, and a field-of-view width of 28.0 mm with a sampling interval of 1 μm/pixel.
Depletion of Csk preferentially reduces the protein level of LynA in a Cbl-dependent manner in cancer cells
Authors: Kuga Takahisa , Yamane Yuka , Hayashi Soujirou , Taniguchi Masanari , Yamaguchi Naoto , Yamagishi Nobuyuki 
Published: May 2020

AbstractThere are eight human Src-family tyrosine kinases (SFKs). SFK members c-Src, c-Yes, Fyn, and Lyn are expressed in various cancer cells. SFK kinase activity is negatively regulated by Csk tyrosine kinase. Reduced activity of Csk causes aberrant activation of SFKs, which can be degraded by a compensatory mechanism depending on Cbl-family ubiquitin ligases. We herein investigated whether all SFK members are similarly downregulated by Cbl-family ubiquitin ligases in cancer cells lacking Csk activity. We performed Western blotting of multiple cancer cells knocked down for Csk and found that the protein levels of the 56 kDa isoform of Lyn (LynA), 53 kDa isoform of Lyn (LynB), c-Src, and Fyn, but not of c-Yes, were reduced by Csk depletion. Induction of c-Cbl protein levels was also observed in Csk-depleted cells. The reduction of LynA accompanying the depletion of Csk was significantly reversed by the knockdown for Cbls, whereas such significant recovery of LynB, c-Src, and Fyn was not observed. These results suggested that LynA is selectively downregulated by Cbls in cancer cells lacking Csk activity.
Asthma and subsequent school performance at age 15–16 years: A Swedish population-based sibling control study
Authors: Lundholm Cecilia , Brew Bronwyn K. , D’Onofrio Brian M. , Osvald Emma Caffrey , Larsson Henrik , Almqvist Catarina 
Published: May 2020

AbstractAsthma may negatively affect children’s school performance, such as grades and exam results. Results from previous studies have shown varying results and may have suffered from confounding and other biases. We used a Swedish population-based cohort of 570,595 children with data on asthma (including severity and control) in Grades 7–8 and 9, school performance from Grade 9 (grade point sum, non-eligibility for upper secondary school and national test results) and measured confounders from national registers. We used sibling comparisons to account for unmeasured familial factors. Children with asthma and severe asthma performed slightly better in school than children without asthma when adjusting for measured confounders, but the associations were attenuated in sibling comparisons. In contrast, children with uncontrolled asthma performed slightly worse (e.g. Grade 9: βadj = −9.9; 95% CI −12.8 to −7.0; Cohen’s d = 0.16). This association remained for uncontrolled asthma in Grade 9 in sibling comparisons (Grade 9: β = −7.7 points; 95% CI −12.6 to −2.6; Cohen’s d = 0.12), but not for Grades 7–8. The attenuation of estimates when controlling for familial factors using sibling comparisons suggests that the differences were due to familial factors, rather than being causal. The remaining associations in sibling comparisons between uncontrolled asthma in Grade 9 and school performance are consistent with a causal association.
Chronic Social Defeat Stress Up-Regulates Spexin in the Brain of Nile Tilapia (Oreochromis niloticus)
Authors: Lim Chor Hong , Soga Tomoko , Levavi-Sivan Berta , Parhar Ishwar S. 
Published: May 2020

AbstractSpexin (SPX), a neuropeptide evolutionarily conserved from fish to mammals, is widely distributed in the brain and peripheral tissues and associated with various physiological functions. Recently SPX has been suggested to be involved in neurological mechanism of stress. The current study investigates the involvement of SPX in chronic social defeat stress, using male teleost, the Nile tilapia (Oreochromis niloticus) as an animal model due to its distinct social hierarchy of dominant and subordinate relationship. The tilapia genome has SPX1a and SPX1b but has no SPX2. In the Nile tilapia, we localized SPX1a and SPX1b in the brain using in-situ hybridization. Next, using qPCR we examined gene expression of SPX1a and SPX1b in chronically stress (socially defeated) fish. SPX1a expressing cells were localized in the semicircular torus of the midbrain region and SPX1b expressing cells in the telencephalon. Chronically stress fish showed elevated plasma cortisol levels; with an upregulation of SPX1a and SPX1b gene expression in the brain compared to non-stress (control) fish. Since social defeat is a source of stress, the upregulated SPX mRNA levels during social defeat suggests SPX as a potentially inhibitory neuropeptide capable of causing detrimental changes in behaviour and physiology.
Alterations in Salience Network Functional Connectivity in Individuals with Restless Legs Syndrome
Authors: Ku Jeonghun , Lee Yeong Seon , Kim Keun Tae , Chang HyukWon , Cho Yong Won 
Published: May 2020

AbstractBackground and purpose: Restless legs syndrome (RLS) is a neurological disorder which is most commonly identified by an urge to move the legs. It often shows alterations in sensory processing which implies the salience network (SN) is experiencing changes. This study investigates the functional connectivity (FC) between the SN and other areas of the brain in RLS patients during the resting state period. Methods: Thirty patients with drug naïve idiopathic RLS and 30 healthy age and gender matched controls were included in this study. Resting state fMRIs were performed in the morning during the asymptomatic period. The SN comparisons were conducted between the two groups. Results: The RLS group showed a reduction in SN FC in the right pyramis, and an increase in SN FC in the bilateral orbitofrontal gyri and right postcentral gyrus. Conclusions: The results of this study give reason to believe that SN FC in RLS patients is altered during asymptomatic periods. This could have an influence on the processing of the saliency of information, particularly sensory information processing and inhibition mechanisms.
Heterozygous loss of Rbm24 in the adult mouse heart increases sarcomere slack length but does not affect function
Authors: de Groot N. E. , van den Hoogenhof M. M. G. , Najafi A. , van der Made I. , van der Velden J. , Beqqali A. , Pinto Y. M. , Creemers E. E. 
Published: May 2020

AbstractRNA-binding proteins are key regulators of post-transcriptional processes such as alternative splicing and mRNA stabilization. Rbm24 acts as a regulator of alternative splicing in heart and skeletal muscle, and is essential for sarcomere assembly. Homozygous inactivation of Rbm24 in mice disrupts cardiac development and results in embryonic lethality around E12.5. In the present study, we generated somatic Rbm24 knockout (KO) mice and investigated the effects of reduced levels of Rbm24 in the adult heart. Due to the embryonic lethality of Rbm24 KO mice, we examined cardiac structure and function in adult Rbm24 heterozygotes (HETs). Rbm24 protein expression was 40% downregulated in HET hearts compared to WT hearts. Force measurements on isolated membrane-permeabilized myocytes showed increased sarcomere slack length and lower myofilament passive stiffness in adult Rbm24 HET compared to wildtype cardiomyocytes. As a result of the differences in sarcomere slack length, the relations between force development and sarcomere length differed between WT and Rbm24 HET hearts. No differences in sarcomere structure and titin isoform composition were observed. Likewise, in vivo cardiac function and myocardial structure was unaltered in Rbm24 HET mice compared to WT, at baseline and upon pressure overload after transverse aortic constriction. In conclusion, we generated a somatic Rbm24 KO model and recapitulated the previously reported embryonic phenotype. In adult Rbm24 HET cardiomyocytes we observed increased sarcomere slack length, but no difference in sarcomere structure and cardiac function.
Small dense low-density lipoprotein cholesterol is strongly associated with NIHSS score and intracranial arterial calcification in acute ischemic stroke subjects
Authors: Yao Tao , Long Qi , Li Jing , Li Gang , Ding Yanbin , Cui Qin , Liu Zhichao 
Published: May 2020

AbstractIntracranial artery calcification (IAC) is an important risk factor for cerebral infarction and a key biomarker for intracranial artery stenosis. Small dense low-density lipoprotein cholesterol (sd-LDL-c) was independently associated with increased cardiovascular events and coronary calcification. Our study assessed whether sd-LDL-c is an independent factor for IAC in acute ischemic stroke (AIS) patients. This cross-sectional study involved a total of 754 patients with AIS (mean age: 65 ± 13.2 years). All the patients had received brain computed tomography angiography (CTA) examination to evaluate IAC. Serum sd-LDL-c levels and other biochemical parameters were analyzed. Admission NIHSS score and mRS score at discharge were collected. After 60-days 85 patients died during hospitalization and follow-up. Partial correlation analysis showed that serum sd-LDL-c levels were associated with admission NIHSS score and IAC score after adjusted age and gender. Logistic regression analysis showed that serum sd-LDL-c levels independently predicted NIHSS scores (β = 1.537, 95%CI: 0.134-2.878, p = 0.042) and IAC scores (β = 1.355, 95%CI: 0.319-2.446, p = 0.015). The average level of sd-LDL-c in patients who died was also significantly increased compared to survival patients (1.04 ± 0.59 vs 0.88 ± 0.44 mmol/L, p = 0.017). However, multivariate logistic regression analysis showed serum sd-LDL-c levels could not predict all-cause mortality and prognosis in AIS patients. Our study found that sd-LDL-c as a strong atherogenic lipid particle can independently predict admission NIHSS scores and the severity of cerebral artery calcification in AIS patients. However, its prognostic value in AIS patients still needs further study in the future.
Prevalence and pattern of comorbidities in chronic rheumatic and musculoskeletal diseases: the COMORD study
Authors: Ziade Nelly , El Khoury Bernard , Zoghbi Marouan , Merheb Georges , Abi Karam Ghada , Mroue’ Kamel , Messaykeh Jamil 
Published: May 2020

AbstractIncreased risk of comorbidities has been reported in Rheumatic and Musculoskeletal Diseases (RMD). We aimed to evaluate the prevalence and pattern of comorbidities in RMD patients nationwide, to identify multimorbidity clusters and to evaluate the gap between recommendations and real screening. Cross-sectional, multicentric nationwide study. Prevalence of comorbidities was calculated according to six EULAR axes. Latent Class Analysis identified multimorbidity clusters. Comorbidities’ screening was compared to international and local recommendations. In 769 patients (307 RA, 213 OA, 63 SLE, 103 axSpA, and 83 pSA), the most frequent comorbidities were cardiovascular risk factors and diseases (CVRFD) (hypertension 36.5%, hypercholesterolemia 30.7%, obesity 22.7%, smoking 22.1%, diabetes 10.4%, myocardial infarction 6.6%), osteoporosis (20.7%) and depression (18.1%). Three clusters of multimorbidity were identified: OA, RA and axSpA. The most optimal screening was found for CVRF (> = 93%) and osteoporosis (53%). For malignancies, mammograms were the most optimally prescribed (56%) followed by pap smears (32%) and colonoscopy (21%). Optimal influenza and pneumococcus vaccination were found in 22% and 17%, respectively. Comorbidities were prevalent in RMD and followed specific multimorbidity patterns. Optimal screening was adequate for CVRFD but suboptimal for malignant neoplasms, osteoporosis, and vaccination. The current study identified health priorities, serving as a framework for the implementation of future comorbidity management standardized programs, led by the rheumatologist and coordinated by specialized health care professionals.