bluuebunny/crossref_metadata_2025_split huggingface dataset:
Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death
Authors: Hall Deborah A. , Nag Sukriti , Ouyang Bichun , Bennett David A. , Liu Yuanqing , Ali Aisha , Zhou Lili , Berry‐Kravis Elizabeth 
Published: May 2020

AbstractBackgroundPremutation size (55–199 CGG repeats) in the fragile X mental retardation 1 (FMR1) gene cause fragile X‐associated tremor/ataxia syndrome, but it is unclear whether smaller “gray” zone expansions of 41–54 repeats are also associated with movement disorders. The objectives of this study were to determine the association between the FMR1 gene gray zone expansions, AGG interspersions, and the presence of parkinsonism and motor and cognitive function in an elderly community‐based population.MethodsAutomated FMR1 polymerase chain reaction was performed on existing samples from 2 longitudinal aging studies whose subjects agreed to brain donation. A detailed clinical evaluation including a modified Unified Parkinson's Disease Rating Scale score, a composite score of global motor function, 17 cognitive tests summarized as a global measure of cognition, and neuropathological examination were obtained for genotyped participants.ResultsThe average age of the population (n = 2362) was 85.9 ± 7.3 years, and average age at death was 88.6 ± 6.4 years (n = 1326), with 72% women. The prevalence of FMR1 gray zone alleles was 5.2% (122 of 2362). There was no difference between participants with gray zone expansions or those lacking AGG interspersions compared with normal participants in global cognition, global motor function, clinical diagnosis, or pathological changes. Gray zone alleles were associated with signs of parkinsonism in men (P = 0.01), and gray zone carrier men were more likely to die (hazard ratio, 2.34; 95% confidence interval, 1.31–4.16).ConclusionsThis is the largest study to investigate gray zone alleles in a community population. The key findings are that in men, the gray zone allele is associated with signs of parkinsonism and higher risk of death, but not with intranuclear neuronal inclusions. © 2020 International Parkinson and Movement Disorder Society
Chemometric Modelling of Heat Release Capacity, Total Heat Release and Char Formation of Polymers to Assess Their Flammability Characteristics
Authors: Khan Pathan Mohsin , Roy Kunal 
Published: May 2020

AbstractThe quantitative structure‐property relationship (QSPR) approach has widely been used to predict several physicochemical properties of materials employing the information obtained from their chemical structures (numerical descriptors). In the present work, we have generated three individual QSPR models for three different endpoints for a large number of polymers in order to determine their fire retardant property such as heat release capacity, total heat release, and %Char, using the only two‐dimensional descriptors with definite physicochemical meaning. Relevant subsets of descriptors were selected employing a genetic algorithm approach; subsequently, the selected descriptors were utilised for the identification of the best combination of the variables for the model generation, while the final models were developed employing the partial least squares (PLS) regression algorithm. The generated models were rigorously validated using various internationally accepted internal and external validation metrics. All the models showed promising statistical quality in terms of determination coefficient
(0.802, 0.842 and 0.826), cross‐validated leave‐one‐out Q2 (0.759, 0.810 and 0.752) and predictive R2pred or Q2ext (0.810, 0.900 and 0.847) for HRC (nTraining=62, nTest=28), THR (nTraining=64, nTest=21) and %char (nTraining=49, nTest=21) datasets, respectively. All the certified models were used for prediction of flammability characteristics of 37 external set compounds, and further, the quality of prediction was determined by using the PRI software tool. The final models of HRC, THR and %Char formation of polymers may be useful to predict the flammability characteristics of polymers quickly before their synthesis and used as a better alternative approach to the experimental testing of flammability of polymers.
Patients' experiences and satisfaction at one year following primary total knee arthroplasty: A focus‐group discussion
Authors: Bin Sheeha Bodor , Williams Anita , Johnson David Sands , Granat Malcolm , Jones Richard 
Published: May 2020

AbstractObjectiveTo date, no study has explored patients' experiences, outcome expectations and satisfaction 1‐year post‐total knee arthroplasty (TKA) using focus‐group discussion (FGD). The exploration of patients' expectations, functional recovery and limitations may support future modifications and thus improve outcomes post‐TKA.MethodsAn FGD was conducted with patients at 1‐year post‐TKA. Moderators led the discussion using a semistructured discussion guide. The discussion was digitally recorded, transcribed verbatim and analysed to formulate themes.ResultsThe study identified four main themes: recovery experience post‐TKA, experience before TKA, activity of daily living (ADL) changes post‐TKA and post‐TKA outcome expectations. The recovery experience theme explores the overall experience post‐TKA in terms of symptoms and progression issues; their experience with the orthopaedic surgeon and physiotherapy; and the differences between first and second knee replacements. The experience before TKA theme discusses many issues raised by patients that they believed strongly affected TKA outcomes and their satisfaction, such as the referral process, ADL limitations before TKA and their beliefs about post‐TKA outcomes. The ADL changes post‐TKA theme discusses the diversity of functional improvements, limitations and new functional ability. The outcome expectation theme explores what the patients expected to gain from surgery and the factors that modified those expectations, and whether their expectations were met.ConclusionsPatient attitude, sufficient preoperative education, outcome expectation modification, communication with the surgeon and patients taking an active role in rehabilitation can all affect post‐TKA outcomes and satisfaction. Hence, the recommendation is to address all of these issues before TKA to enhance outcomes and patient satisfaction.
Update on immune‐mediated therapies for myasthenia gravis
Authors: Habib Ali Aamer , Ahmadi Jazi Ghazaleh , Mozaffar Tahseen 
Published: May 2020

AbstractWith the exception of thymectomy, immune modulatory treatment strategies and clinical trials in myasthenia gravis over the past 50 y were mainly borrowed from experience in other nonneurologic autoimmune disorders. The current experimental therapy paradigm has significantly changed such that treatments directed against the pathological mechanisms specific to myasthenia gravis are being tested, in some cases as the initial disease indication. Key advances have been made in three areas: (i) the expanded role and long‐term benefits of thymectomy, (ii) complement inhibition to prevent antibody‐mediated postsynaptic membrane damage, and (iii) neonatal Fc receptor (FcRn) inhibition as in vivo apheresis, removing pathogenic antibodies. Herein, we discuss these advances and the potential for these newer therapies to significantly influence the current treatment paradigms. While these therapies provide exciting new options with rapid efficacy, there are anticipated challenges to their use, especially in terms of a dramatic increase in cost of care for some patients with myasthenia gravis.
Dynamic credit reservation for online charging of regular Internet of things traffic
Authors: Huang Huai‐Sheng , Hung Da‐Yu 
Published: May 2020

SummaryAccording to the specifications of the Third Generation Partnership Project (3GPP), any online charging system must determine a granted unit (GU) and make reservations for each session before the serving network delivers the service. Allocating insufficient GUs to user equipment may incur excessive quantities of reservation messages; conversely, providing excessive GUs could result in an unbalanced distribution of resources. Therefore, a prudent investigation of a reservation scheme for multiple Internet of things (IoT) devices is urgently needed. In this paper, we focus on IoT devices with regular traffic, which usually generate numerous routine traffic events and few event‐driven traffic events. We combine a fixed‐order quantity model (sometimes called a Q model) and propose a novel solution to this issue. To the best of our knowledge, this is the first research to propose a solution based on such a concept. Compared with typical schemes, the simulation results show that our proposed scheme can maintain the success rate with a smaller‐than‐usual number of messages.
Four‐node tetrahedral elements for gradient‐elasticity analysis
Authors: Sze K. Y. , Yuan W. C. , Zhou Y. X. 
Published: May 2020

SummaryComputational analyses of gradient‐elasticity often require the trial solution to be C1 yet constructing simple C1 finite elements is not trivial. This article develops two 48‐dof 4‐node tetrahedral elements for 3D gradient‐elasticity analyses by generalizing the discrete Kirchhoff method and a relaxed hybrid‐stress method. Displacement and displacement‐gradient are the only nodal dofs. Both methods start with the derivation of a C0 quadratic‐complete displacement interpolation from which the strain is derived. In the first element, displacement‐gradient at the mid‐edge points are approximated and then interpolated together with those at the nodes whilst the strain‐gradient is derived from the displacement‐gradient interpolation. In the second element, the assumed constant double‐stress modes are employed to enforce the continuity of the normal derivative of the displacement. The whole formulation can be viewed as if the strain‐gradient matrix derived from the displacement interpolation matrix is refined by a constant matrix. Both elements are validated by the individual element patch test and other numerical benchmark tests. To the best knowledge of the authors, the proposed elements are probably the first nonmixed/penalty 3D elements which employ only displacement and displacement‐gradient as the nodal dofs for gradient‐elasticity analyses.
Interaction of Aluminum Metaphosphates in the Setting of Potassium Silicate Solutions in Terms of the Crystalline Phase Composition.
Authors: Masoudi Alavi Ali , Sax Almuth , Quirmbach Peter 
Published: May 2020

AbstractAluminum phosphates are known as inorganic hardening agents for the setting of alkali silicate solutions, but only few studies have been published on the setting mechanism of potassium water glass. The solution behavior of two aluminum metaphosphates in alkaline environments were investigated photometrically determining the dissolved aluminum content. The crystalline phase composition of the hardened potassium silicate systems was determined by X‐ray diffraction. New insights into the setting mechanism were obtained concerning the structure of the aluminum metaphosphate and the SiO2/K2O ratio of three different potassium silicate solutions. With increasing pH value aluminum tetrametaphosphate reacts rapidly and forms crystalline potassium tetrametaphosphate dihydrate by an ion‐exchange‐reaction. In parallel, a depolymerization of the cyclic metaphosphate structure occurs leading to potassium dihydrogen phosphate as final fragmentation product. With aluminum hexametaphosphate no ion‐exchange reaction product was observed. Only potassium dihydrogen phosphate could be found in higher quantities compared to the reaction with aluminum tetrametaphosphate.
Metabolomics, machine learning and immunohistochemistry to predict succinate dehydrogenase mutational status in phaeochromocytomas and paragangliomas
Authors: Wallace Paal W , Conrad Catleen , Brückmann Sascha , Pang Ying , Caleiras Eduardo , Murakami Masanori , Korpershoek Esther , Zhuang Zhengping , Rapizzi Elena , Kroiss Matthias , Gudziol Volker , Timmers Henri JLM , Mannelli Massimo , Pietzsch Jens , Beuschlein Felix , Pacak Karel , Robledo Mercedes , Klink Barbara , Peitzsch Mirko , Gill Anthony J , Tischler Arthur S , de Krijger Ronald R , Papathomas Thomas , Aust Daniela , Eisenhofer Graeme , Richter Susan 
Published: May 2020

AbstractPhaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours with a hereditary background in over one‐third of patients. Mutations in succinate dehydrogenase (SDH) genes increase the risk for PPGLs and several other tumours. Mutations in subunit B (SDHB) in particular are a risk factor for metastatic disease, further highlighting the importance of identifying SDHx mutations for patient management. Genetic variants of unknown significance, where implications for the patient and family members are unclear, are a problem for interpretation. For such cases, reliable methods for evaluating protein functionality are required. Immunohistochemistry for SDHB (SDHB‐IHC) is the method of choice but does not assess functionality at the enzymatic level. Liquid chromatography–mass spectrometry‐based measurements of metabolite precursors and products of enzymatic reactions provide an alternative method. Here, we compare SDHB‐IHC with metabolite profiling in 189 tumours from 187 PPGL patients. Besides evaluating succinate:fumarate ratios (SFRs), machine learning algorithms were developed to establish predictive models for interpreting metabolite data. Metabolite profiling showed higher diagnostic specificity compared to SDHB‐IHC (99.2% versus 92.5%, p = 0.021), whereas sensitivity was comparable. Application of machine learning algorithms to metabolite profiles improved predictive ability over that of the SFR, in particular for hard‐to‐interpret cases of head and neck paragangliomas (AUC 0.9821 versus 0.9613, p = 0.044). Importantly, the combination of metabolite profiling with SDHB‐IHC has complementary utility, as SDHB‐IHC correctly classified all but one of the false negatives from metabolite profiling strategies, while metabolite profiling correctly classified all but one of the false negatives/positives from SDHB‐IHC. From 186 tumours with confirmed status of SDHx variant pathogenicity, the combination of the two methods resulted in 185 correct predictions, highlighting the benefits of both strategies for patient management. © 2020 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland.
Fiber Coupling to Polarization‐Maintaining Fibers and Collimation
Authors: Knigge Anja , Rahmel Mats , Knothe Christian 
Published: May 2020

AbstractA stable measurement setup is fundamental for any successful measurement. A major cause of frustration and error is the need to continuously readjust optomechanical equipment because of continuous instabilities. But first decisions have to be made about which components to use. Detailed measurements of fiber parameters like e.g. an effective numerical aperture allow a better understanding which other fiber optic components are suitable for the application at hand. In‐depth knowledge about the different parameters is key for this procedure. The online product configurators on the new Schäfter+Kirchhoff website provide this information quickly and easily and help narrow down the search to the most relevant choices.
Landscape matters: Predicting the biogeochemical effects of permafrost thaw on aquatic networks with a state factor approach
Authors: Tank Suzanne E. , Vonk Jorien E. , Walvoord Michelle A. , McClelland James W. , Laurion Isabelle , Abbott Benjamin W. 
Published: May 2020

AbstractPermafrost thaw has been widely observed to alter the biogeochemistry of recipient aquatic ecosystems. However, research from various regions has shown considerable variation in effect. In this paper, we propose a state factor approach to predict the release and transport of materials from permafrost through aquatic networks. Inspired by Hans Jenny's seminal description of soil‐forming factors, and based on the growing body of research on the subject, we propose that a series of state factors—including relief, ice content, permafrost extent, and parent material—will constrain and direct the biogeochemical effect of thaw over time. We explore state‐factor‐driven variation in thaw response using a series of case studies from diverse regions of the permafrost‐affected north, and also describe unique scaling considerations related to the mobile and integrative nature of aquatic networks. While our cross‐system review found coherent responses to thaw for some biogeochemical constituents, such as nutrients, others, such as dissolved organics and particles, were much more variable in their response. We suggest that targeted, hypothesis‐driven investigation of the effects of state factor variation will bolster our ability to predict the biogeochemical effects of thaw across diverse and rapidly changing northern landscapes.
Deformation and the Complexity=Volume Conjecture
Authors: Geng Hao 
Published: May 2020

AbstractComplexity in quantum physics measures how difficult a state can be reached from a reference state and more precisely it is the number of fundamental unitary gates we have to operate to transform the reference state to the state we are considering. In the holographic context, based on several explicit calculations and arguments, it is conjectured that certain bulk volume calculates the boundary field theory subregion complexity. In this paper, we will show that the deformation shows a strong signal of the correctness of this complexity equals volume conjecture. A bonus is a way to look at the deformation, by its reversibility, as operating a unitary quantum circuit which prepares states in quantum field theory.
The two faces of Coprinus comatus—Functional properties and potential hazards
Authors: Nowakowski Patryk , Naliwajko Sylwia K. , Markiewicz‐Żukowska Renata , Borawska Maria H. , Socha Katarzyna 
Published: May 2020

AbstractMushrooms have been used for centuries not only as food but also in traditional medicine as a source of components with pro‐health activity. One of them is Coprinus comatus (O.F.Müll.) Pers. also called shaggy mane, chicken drumstick mushroom, or lawyer's wig. In Asian countries, C. comatus (CC) is approved as edible mushroom and often cultivated for consumption, whereas in many other countries, although it is widespread, it is unrecognized and not used. In this review, for the first time, we discussed about the composition related to functional properties as well as the potential risks associated with consumption of CC by reviewing scientific literature. The information has been collected in order to get to know this species thoroughly. Various studies show many of the physiological activities, such as antioxidant, anticancer, antiandrogenic, hepatoprotective, acetylcholinesterase inhibitory, antiinflammatory, antidiabetic, antiobesity, antibacterial, antifungal, antinematode, and antiviral. Besides positive physiological properties, CC has also negative features, for example, skin reactions in patients with dermatitis and atopic predisposition, risk of confusion with poisonous mushrooms, quick autolysis after collection, and contamination of toxic elements.
Fluorescent Silica Nanoparticles to Label Metastatic Tumor Cells in Mineralized Bone Microenvironments
Authors: Chiou Aaron E. , Hinckley Joshua A. , Khaitan Rupal , Varsano Neta , Wang Jonathan , Malarkey Henry F. , Hernandez Christopher J. , Williams Rebecca M. , Estroff Lara A. , Weiner Steve , Addadi Lia , Wiesner Ulrich B. , Fischbach Claudia 
Published: May 2020

AbstractDuring breast cancer bone metastasis, tumor cells interact with bone microenvironment components including inorganic minerals. Bone mineralization is a dynamic process and varies spatiotemporally as a function of cancer‐promoting conditions such as age and diet. The functional relationship between skeletal dissemination of tumor cells and bone mineralization, however, is unclear. Standard histological analysis of bone metastasis frequently relies on prior demineralization of bone, while methods that maintain mineral are often harsh and damage fluorophores commonly used to label tumor cells. Here, fluorescent silica nanoparticles (SNPs) are introduced as a robust and versatile labeling strategy to analyze tumor cells within mineralized bone. SNP uptake and labeling efficiency of MDA‐MB‐231 breast cancer cells is characterized with cryo‐scanning electron microscopy and different tissue processing methods. Using a 3D in vitro model of marrow‐containing, mineralized bone as well as an in vivo model of bone metastasis, SNPs are demonstrated to allow visualization of labeled tumor cells in mineralized bone using various imaging modalities including widefield, confocal, and light sheet microscopy. This work suggests that SNPs are valuable tools to analyze tumor cells within mineralized bone using a broad range of bone processing and imaging techniques with the potential to increase the understanding of bone metastasis.
Prenatal stomach position predicts gastrointestinal morbidity at 2 years in fetuses with left‐sided congenital diaphragmatic hernia
Authors: Cordier A. G. , Laup L. , Letourneau A. , Le Sache N. , Fouquet V. , Senat M. V. , Perrotin F. , Rosenblatt J. , Sananes N. , Jouannic J. M. , Benoist G. , Jani J. C. , Benachi A. 
Published: May 2020

ABSTRACTObjectiveThe long‐term morbidity associated with isolated left‐sided congenital diaphragmatic hernia (CDH) has been described previously. However, antenatal criteria impacting gastrointestinal morbidity (GIM) are not yet defined. The objective of this study was to evaluate the effect of fetal stomach position on the risk of GIM at 2 years of age in children with left‐sided CDH.MethodsThis was a retrospective, observational multicenter cohort study of data obtained from January 2010 to January 2014, that included patients whose fetus had isolated left‐sided CDH, with or without fetal endoscopic tracheal occlusion (FETO). Prenatal maternal, fetal and pediatric data were collected. Fetal stomach position was evaluated a posteriori by two observers, using ultrasound images at the level of the four‐chamber view of the heart that had been obtained to calculate the observed‐to‐expected lung‐area‐to‐head‐circumference ratio (O/E‐LHR). Fetal stomach position was graded as follows: Grade 1, stomach not visualized; Grade 2, stomach visualized anteriorly, next to the apex of the heart, with no structure in between the stomach and the sternum; Grade 3, stomach visualized alongside the left ventricle of the heart, and abdominal structures anteriorly; or Grade 4, as Grade 3 but with stomach posterior to the level of the atrioventricular heart valves. The primary outcome was GIM at 2 years of age, assessed in a composite manner, including the occurrence of gastroesophageal reflux disease, need for gastrostomy, duration of parenteral and enteral nutrition and persistence of oral aversion. Regression analysis was performed in order to investigate the effect of O/E‐LHR, stomach position and FETO on various GIM outcome variables.ResultsForty‐seven patients with fetal left‐sided CDH were included in the analysis. Thirteen (27.7%) infants did not meet the criterion of exclusive oral feeding at 2 years of age. Fetal stomach position grade was associated significantly and independently with the duration of parenteral nutrition (odds ratio (OR), 19.86; P = 0.031) and persistence of oral aversion at 2 years (OR, 3.40; P = 0.006). On multivariate analysis, O/E‐LHR was predictive of the need for prosthetic patch repair, but not for GIM. FETO did not seem to affect the risk of GIM at 2 years.ConclusionIn isolated left‐sided CDH, fetal stomach position is the only factor that is predictive of GIM at 2 years of age. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.