bluuebunny/crossref_metadata_2025_split huggingface dataset:
Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B
Authors: Darras Natasha , Ha Thoa K. , Rego Shannon , Martin Pierre‐Marie , Barroso Eva , Slavotinek Anne M. , Cilio Maria R. 
Published: August 2019

AbstractDevelopmental and epileptic encephalopathies are genetic disorders in which both the developmental disability and the frequent epileptic activity are the effect of a specific gene variant. While heterozygous variants in SCN1B have been described in families with generalized epilepsy with febrile seizures plus, Type 1, only three cases of homozygous, missense variants in SCN1B have been reported in association with autosomal recessive inheritance of a severe developmental and epileptic encephalopathy. We present two siblings who are homozygous for a novel, missense variant in SCN1B, c.265C>T, predicting p.Arg89Cys. The proband is an 11‐year‐old female with infantile‐onset, fever‐induced, intractable generalized tonic–clonic seizures, myoclonic seizures, and developmental slowing and autism spectrum disorder occurring later in the course of the disease. Her 4‐year‐old brother had a similar epilepsy phenotype, but still displays normal development. This variant has not been previously reported in the homozygous state in control databases. The variant was predicted to be damaging and occurred in the vicinity of other epileptic encephalopathy‐associated missense variants that are biallelic and located in the extracellular immunoglobulin loop domain of the protein, which mediates interaction of the beta‐1 subunit with cellular adhesion molecules. Our report is the first set of siblings with homozygosity for the p.Arg89Cys variant in SCN1B and further implicates biallelic mutations in this gene as a cause of epileptic encephalopathy mimicking Dravet syndrome. Interestingly, the phenotype we observed was milder compared to that previously described in patients with recessive SCN1B mutations.
Nutritional composition of the diet of the western gorilla (Gorilla gorilla): Interspecific variation in diet quality
Authors: Lodwick Jessica L. , Salmi Roberta 
Published: August 2019

AbstractTo meet nutritional needs, primates adjust their diets in response to local habitat differences, though whether these dietary modifications translate to changes in dietary nutrient intake is unknown. A previous study of two populations of the mountain gorilla (MG: Gorilla beringei) found no evidence for intraspecific variation in the nutrient composition of their diets, despite ecological and dietary differences between sites. One potential explanation is that nutritional variability in primate diets requires greater ecological divergence than what was captured between MG sites, underpinning environmental differences in the nutrient quality of plant foods. To test whether Gorilla exhibits interspecific variation in dietary composition and nutrient intake, we studied the composition and macronutrients of the western gorilla (WG: Gorilla gorilla) staple diets and compared them with published data from the two MG populations. We recorded feeding time and food intake of four adult female WGs from one habituated group over a period of 11 months (December 2004–October 2005) at the Mondika Research Center, Republic of Congo, allowing for assessment of seasonal patterns of nutrient intake. Staple diets of WGs and MGs diverged in their dietary and macronutrient composition. Compared to MGs, the staple diet of WGs (by intake) contained higher proportions of fruit (43%) and leaf (12%) and a lower proportion of herb (39%), resulting in a higher intake of total nonstructural carbohydrate and fiber and a lower intake of crude protein. Staple gorilla fruits and herbs differed in nutrient quality between sites. Gorillas exhibit nutritional flexibility that reflects ecological variation in the nutrient quality of plant foods. Since dietary quality typically affects rates of growth and reproduction in primates, our results suggest that interspecific differences in nutrient intake and food quality may shape differences in gorilla nutrient balancing and female life history strategies.
Mildred Dresselhaus and Solid State Pedagogy at MIT
Authors: Martin Joseph D. 
Published: August 2019

AbstractMildred Dresselhaus is known for her influential research on the physics of carbon. Her wide‐ranging influence as a physics teacher, although well‐known to her students, has been less thoroughly examined. Exploring how Dresselhaus grew into her role teaching solid state physics at MIT reveals much about how that subfield evolved.
Cobalt‐Catalyzed Asymmetric Hydrogenation of C=N Bonds Enabled by Assisted Coordination and Nonbonding Interactions
Authors: Hu Yanhua , Zhang Zhenfeng , Zhang Jian , Liu Yangang , Gridnev Ilya D. , Zhang Wanbin 
Published: August 2019

AbstractAn efficient cobalt‐catalyzed asymmetric hydrogenation of C=N bonds has been realized. Chiral hydrazines were obtained in high yields and with excellent enantioselectivities (95–98 % ee). The hydrogenation went smoothly at up to 2000 substrate/catalyst and on a gram scale. The success of this reaction relies on the presence of an NHBz group in the substrates, with the reactivity and enantioselectivity improved by an assisted coordination to the cobalt atom and a nonbonding interaction with the ligand. Furthermore, this reaction has practical applications for the synthesis of several useful chiral nitrogen‐containing compounds.
An AIE‐Based Probe for Rapid and Ultrasensitive Imaging of Plasma Membranes in Biosystems
Authors: Shi Lei , Liu Yan‐Hong , Li Kun , Sharma Amit , Yu Kang‐Kang , Ji Myung Sun , Li Ling‐Ling , Zhou Qian , Zhang Hong , Kim Jong Seung , Yu Xiao‐Qi 
Published: August 2019

AbstractThe abnormality of the plasma membrane (PM) is an important biomarker for cell status and many diseases. Hence, visualizing the PM, especially in complex systems, is an emerging field in the life sciences, especially in low‐resource settings. Herein, we developed a water‐soluble PM‐specific probe utilizing electrostatic and hydrophobic interaction strategies with aggregation‐induced emission as the signal output. The probe could image the PM with many advanced features (wash‐free, ultrafast staining process, excellent PM specificity, and good biocompatibility), which were demonstrated by the PM imaging of neurons. The probe allowed for the first time the imaging of erythrocytes in the complex brain environment through a fluorescence‐based method. Moreover, the PM of the epidermal and partial view of the eyeball structure of live zebrafish are also revealed.
Luminescence properties of a novel red phosphor 6LaPO4–3La3PO7–2La7P3O18:Eu3+
Authors: Liu Ru , Wang Xigui 
Published: August 2019

AbstractEu3+‐doped 6LaPO4–3La3PO7–2La7P3O18 red luminescent phosphors were synthesized by co‐deposition and high‐temperature solid‐state methods and its polyphase state was confirmed by X‐ray diffraction analysis. Transmission electron microscopy showed the grain morphology as a mixture of rods and spheres. Luminescence properties of the phosphor were investigated and its red emission parameters were evaluated as a function of Eu3+ concentration (3.00–6.00 mol%). Excitation spectra of 6LaPO4–3La3PO7–2La7P3O18:Eu3+ showed strong absorption bands at 280, 395, and 466 nm, while the luminescence spectra exhibited prominent red emission peak centred at 615 nm (5D0→7F2) in the red region. CIE chromaticity coordinates of the 6LaPO4–3La3PO7–2La7P3O18:5%Eu3+ phosphor were (0.668, 0.313) in the red region, and defined its potential application as a red phosphor.
Optimization of chemoenzymatic Baeyer–Villiger oxidation of cyclohexanone to ε‐caprolactone using response surface methodology
Authors: Zhang Yuanyuan , Jiang Weiwei , Lv Kuiying , Sun Yangjian , Gao Xin , Zhao Qiuxiang , Ren Wenjie , Wang Fanye , Liu Junhong 
Published: August 2019

Abstractε‐Caprolactone (ε‐CL) has attracted a great deal of attention and a high product concentration is of great significance for reducing production cost. The optimization of ε‐CL synthesis through chemoenzymatic Baeyer–Villiger oxidation mediated by immobilized Trichosporon laibacchii lipase was studied using response surface methodology (RSM). The yield of ε‐CL was 98.06% with about 1.2 M ε‐CL concentration that has a substantial increase mainly due to both better stability of the cross‐linked immobilized lipase used and the optimum reaction conditions in which the concentration of cyclohexanone was 1.22 M, the molar ratio of cyclohexanone:urea hydrogen peroxide (UHP) was 1:1.3, and the reaction temperature was 56.5°C. Based on our experimental results, it can be safely concluded that there are three reactions in this reaction system, not just two reactions, in which the third reaction is that the acetic acid formed reacts with UHP to form peracetic acid in situ catalyzed by the immobilized lipase. A quadratic polynomial model based on RSM experimental results was developed and the R2 value of the equation is 0.9988, indicating that model can predict the experimental results with high precision. The experimental results also show that the molar ratio of cyclohexanone to UHP has very significant impact on the yield of ε‐CL (p < .0006).
Silica‐Supported MnII Sites as Efficient Catalysts for Carbonyl Hydroboration, Hydrosilylation, and Transesterification
Authors: Ghaffari Behnaz , Mendes‐Burak Jorge , Chan Ka Wing , Copéret Christophe 
Published: August 2019

AbstractManganese, the third most abundant transition‐metal element after iron and titanium, has recently been demonstrated to be an effective homogeneous catalyst in numerous reactions. Herein, the preparation of silica‐supported MnII sites is reported using Surface Organometallic Chemistry (SOMC), combined with tailored thermolytic molecular precursors approach based on Mn2[OSi(OtBu)3]4 and Mn{N(SiMe3)2}2⋅THF. These supported MnII sites, free of organic ligands, efficiently catalyze numerous reactions: hydroboration and hydrosilylation of ketones and aldehydes as well as the transesterification of industrially relevant substrates.
Membrangestützte Flüssig/Flüssig‐Extraktion – Wo stehen wir heute?
Authors: Riedl Wolfgang 
Published: August 2019

AbstractDank Weiterentwicklungen in den Materialwissenschaften und der Fertigungstechnik stehen heute Membranen für stabile Flüssig/Flüssig‐Extraktionsprozesse zur Verfügung. Mit rigorosen Berechnungsmodellen lassen sich sowohl die für eine Trennaufgabe erforderlichen Membranflächen berechnen als auch Optimierungen der Modulform durchführen. In Schnelltests können die prinzipielle Eignung sowie kinetische Parameter ermittelt werden. Damit sind die Voraussetzungen geschaffen, die spezifischen Vorteile dieser Trenntechnik im technischen Einsatz nutzen zu können.
A 3‐Part Phase 1 Study to Investigate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of DSP‐6952 in Healthy Japanese Subjects and Those With ≤3 Spontaneous Bowel Movements per Week
Authors: Yumizaki Takuya , Maeda Mika , Fujita Tomoe , Kakuyama Hiroyoshi , Kumagai Yuji 
Published: August 2019

AbstractWe hypothesized that DSP‐6952, a partial agonist of the 5‐hydroxytryptamine type‐4 receptor and a gastrointestinal prokinetic agent, can induce natural bowel movements by enhancing gastrointestinal motility and colonic transit in patients with chronic constipation and irritable bowel syndrome with constipation. This 3‐part phase 1 study evaluated the safety, tolerability, and pharmacokinetic and pharmacodynamic profiles of DSP‐6952. Eighty‐eight Japanese subjects (64 healthy volunteers and 24 subjects with spontaneous bowel movements ≤3 times/wk) were randomized to DSP‐6952 or placebo. The overall incidence of treatment‐emergent adverse events (TEAEs) was similar for DSP‐6952 and placebo. The most frequent TEAEs were gastrointestinal disorders; diarrhea was more common with DSP‐6952, but only when it was administered to healthy volunteers. Peak plasma concentration (Cmax) and area under the concentration‐time curve (AUC) of DSP‐6952 were dose‐proportional within a range of 4‐120 mg. Under fed conditions, the Cmax and AUC of DSP‐6952 were approximately half those of fasting conditions. No abnormal drug accumulation was observed with repeated administration. In subjects with spontaneous bowel movements ≤3 times/wk, the median change in the frequency of bowel movements from baseline increased, although the difference did not reach statistical significance. DSP‐6952 was well tolerated at single and multiple doses up to 120 mg/d, with a linear pharmacokinetic profile among all subjects.
Synthesis of low‐complexity mechanical networks with constrained element values
Authors: Wang Kai , Ji Xiaofu , Hu Yinlong 
Published: August 2019

SummaryThis paper investigates the synthesis problem of one‐port mechanical networks consisting of one damper, one inerter, and a finite number of springs, where the damping coefficient and inertance are some values in given intervals. Due to the construction limitation, the element values of dampers and inerters are usually required to be constrained in certain ranges instead of any positive values. A necessary and sufficient condition is derived for any positive‐real admittance to be realizable as such class of networks, which is in terms of the coefficients of the admittance and the upper and lower bounds of element value constraints. Moreover, the corresponding synthesis procedure is presented based on the derivation process and realizations of three‐port spring networks. Finally, numerical examples are given for illustration. The results of this paper can be utilized in the design of inerter‐based mechanical control systems.
Intraguild predation enables coexistence of competing phytoplankton in a well‐mixed water column
Authors: Moeller Holly V. , Neubert Michael G. , Johnson Matthew D. 
Published: August 2019

AbstractResource competition theory predicts that when two species compete for a single, finite resource, the better competitor should exclude the other. However, in some cases, weaker competitors can persist through intraguild predation, that is, by eating their stronger competitor. Mixotrophs, species that meet their carbon demand by combining photosynthesis and phagotrophic heterotrophy, may function as intraguild predators when they consume the phototrophs with which they compete for light. Thus, theory predicts that mixotrophy may allow for coexistence of two species on a single limiting resource. We tested this prediction by developing a new mathematical model for a unicellular mixotroph and phytoplankter that compete for light, and comparing the model's predictions with a laboratory experimental system. We find that, like other intraguild predators, mixotrophs can persist when an ecosystem is sufficiently productive (i.e., the supply of the limiting resource, light, is relatively high), or when species interactions are strong (i.e., attack rates and conversion efficiencies are high). Both our mathematical and laboratory models show that, depending upon the environment and species traits, a variety of equilibrium outcomes, ranging from competitive exclusion to coexistence, are possible.
SGXPool: Improving the performance of enclave creation in the cloud
Authors: Li Dingding , Lin Ronghua , Tang Lijie , Liu Hai , Tang Yong 
Published: August 2019

AbstractDeploying user data or programs in cloud risks divulging their privacy because the cloud‐side supervisors, such as system administrators, can leverage the higher privilege to snoop the user data. Based on the trusted execution environment (TEE) technology, Intel Software Guard eXtension (SGX) is a practical remedy to user privacy, which employs hardware‐assisted enclave to wrap the sensitive data, preventing them from the disclosure. However, the application performance is hurt due to the CPU‐expensive and frequent operations on the enclave creation and destruction. In this paper, we propose SGXPool, an application‐level framework of resource management to relieve the above issue. SGXPool first uses a preallocated resource pool to assign/revoke the enclave on demand and avoids its cost of dynamical creation and destruction. Then, SGXPool utilizes another resource pool to constrain the threading overhead such as thread initialization, scheduling, and destruction. In addition, SGXPool exposes the simple and clear interface, allowing users or programmers to apply SGXPool without any intrusive modifications on the original SGX application. We implement SGXPool in the typical web servers which use the multithreading to handle the concurrent user requests. The evaluation results show that SGXPool can improve the performance of the original multithreading system up to 19 times. Meanwhile, the original security of SGX is maintained.
Synergies in offshore wind and oil industry for carbon capture and utilization
Authors: Gondal Irfan Ahmad , Masood Syed Athar 
Published: August 2019

AbstractThe concentration of greenhouse gases (GHG)s and specifically CO2 continue to rise in the global environment including the atmosphere and the oceans. Oil and gas exploration in oceans and the increased probability of CO2 being destined for ocean storage have made the oceans much vulnerable to acidification and hence detrimental to the entire marine ecosystem. Offshore wind energy, along with other renewables, have the potential to lower the rate of CO2 absorption in the global eco system. Distant offshore wind farms are faced with the problem of dispatch of surplus wind power. Power‐to‐gas technology can be used to convert the offshore wind power into synthetic natural gas that can be transported through the existing network of offshore gas pipelines. The novel method has the capability to significantly reduce GHG emissions, solve the power dispatch problems of offshore wind farms, as well as reduce the oceanic environmental degradation. © 2019 Society of Chemical Industry and John Wiley & Sons, Ltd.
Appraisal of Cardiac Ejection Fraction With Liver Disease Severity: Implication in Post–Liver Transplantation Mortality
Authors: Kwon Hye‐Mee , Moon Young‐Jin , Jung Kyeo‐Woon , Park Yong‐Seok , Kim Kyoung‐Sun , Jun In‐Gu , Song Jun‐Gol , Hwang Gyu‐Sam 
Published: August 2019

Background and Aims
Enhanced sympathetic nervous activation and peripheral vasodilation in end‐stage liver disease (ESLD) may limit the importance of left ventricular ejection fraction (LVEF) as an influential prognosticator. We sought to understand the LVEF and cardiac dimensions in ESLD patients in order to define the LVEF threshold to predict all‐cause mortality after liver transplantation (LT).

Approach and Results
Data were collected prospectively from the Asan LT Registry between 2008 and 2016, and outcomes were retrospectively reviewed. LVEF, end‐diastolic volume index (EDVI), and end‐diastolic elastance (Eed) were measured by preoperative echocardiography. Of 2,799 patients, 452 (16.2%) had LVEF ≤ 60%, with 29 (1.0%) having LVEF < 55% and 269 (9.6%) had LVEF ≥ 70%. Over a median of 5.4‐year follow‐up, 329 (11.8%) patients died: 104 (3.7%) died within 90 days. LVEF (range, 30%‐81%) was directly proportionate to Model for End‐stage Liver Disease (MELD) scores, an index of liver disease severity, in survivors but showed a fixed flat‐line pattern in nonsurvivors (interaction P = 0.004 between groups), with lower EDVI (P = 0.013) and higher Eed (P = 0.001) in the MELD ≥ 20 group. Patients with LVEF ≤ 60% had higher 90‐day (13% vs. 7.4%; log rank, P = 0.03) and median 5.4‐year (26.7% vs. 16.2%; log rank, P = 0.003) mortality rates in the MELD ≥ 20 group, respectively, compared to those with LVEF > 60%. Specifically, in the MELD > 35 group, median 5.4‐year mortality rate was 53.3% in patients with LVEF ≤ 60% versus 24% in those with LVEF > 60% (log rank P < 0.001). By contrast, mortality rates of LVEF ≤ 60% and > 60% were similar in the MELD < 20 group (log rank P = 0.817).

Conclusions
LVEF ≤ 60% is strongly associated with higher post‐LT mortality rates in the MELD ≥ 20 group, indicating the need to appraise both LVEF and liver disease severity simultaneously. Enhanced diastolic elastance with low EDVI provides insights into pathogenesis of low LVEF in nonsurvivors with MELD ≥ 20.
Comparison between thrombotic risk scores in essential thrombocythemia and survival implications
Authors: Santoro M. , Accurso V. , Mancuso S. , Carlisi M. , Raso S. , Tarantino G. , Di Piazza F. , Perez A. , Russo A. , Siragusa S. 
Published: August 2019

AbstractThe conventional thrombotic risk stratification in essential thrombocythemia (ET) distinguishes patients in two risk groups based on previous thrombosis and age (< or >60). The IPSET‐thrombosis takes into account four risk factors: age greater than 60 years and the presence of CV risk factors, thrombosis history and JAK2 V617F presence. The revised IPSET‐thrombosis uses three adverse variables to delineate four risk categories: age greater than 60, thrombosis history, and JAK2 V617F presence. We compared different risk models in the estimation of thrombotic risk in 191 patients with ET and the role of specific driver mutations affecting overall survival, according to thrombotic risk. We also evaluated the mutational status of patients showing history of thrombosis or cardiovascular events versus patients who did not. Finally, we verified whether the thrombotic risk had a significant impact on survival in our ET patients. The data analysis has been performed through the conventional statistics and overall survival estimated by using the Kaplan‐Meyer method. Interestingly, either using the traditional system for thrombotic risk or the IPSET‐t prognostic score or the current stratification for the thrombotic risk, high‐risk patients are always highly represented. This evidence is of note, being the high‐risk category indicated for cytoreduction, affecting quality of life, despite the good overall prognosis of patients with ET diagnosis in general. The analysis of overall survival in our patients, according to different models for thrombotic risk, highlighted the poor prognosis of high‐risk patients compared with those with a lower thrombotic risk, in particular when using traditional stratification and current stratification. In conclusion, the occurrence of thrombotic or cardiovascular events represents one of the most severe complications at diagnosis or during follow‐up of ET despite current recommendations, having a significant impact on morbidity and survival.
Entropy generation analysis of convective airflow in a solar updraft tower power plant
Authors: Tayebi Tahar 
Published: August 2019

AbstractThe main objective of this numerical investigation is to interpret the entropy generation for free convection airflow in a solar tower updraft system. The ground surface is subjected to uniform hot temperature and the collector cover is maintained at lower constant temperature while the chimney wall is adiabatic. Two dimensionless equations of steady laminar free convective airflow are discretized using the finite volume approach. Numerical solutions were accomplished for different values of the Rayleigh number. Results are given in terms of isotherms, velocity magnitude, local entropy generation associated with thermal and fluid friction, local total entropy generation and local Bejan number contours for Rayleigh number ranging between 103 and 108. The reported results show that thermal and frictional irreversibilities are proportional to the Rayleigh number. Also, it was found that, at lower Rayleigh, total irreversibility is attributable to the thermal irreversibilities and occurs essentially in the collector section. At higher Rayleigh, frictional irreversibilities are increased significantly and become the dominant source of irreversibility in the solar tower, and the chimney section is the main contributor in the total irreversibility in the system.