bluuebunny/crossref_metadata_2025_split huggingface dataset:
A founder truncating variant in GDF1 causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds
Authors: Marek‐Yagel Dina , Bolkier Yoav , Barel Ortal , Vardi Amir , Mishali David , Katz Uriel , Salem Yishay , Abudi Shachar , Nayshool Omri , Kol Nitzan , Raas‐Rothschild Annick , Rechavi Gideon , Anikster Yair , Pode‐Shakked Ben 
Published: March 2020

AbstractThe genetic basis of congenital heart malformations associated with disruption of left–right (L–R) asymmetry is broad and heterogenous, with variants in over 25 genes implicated thus far. Of these, deleterious variants in the Growth/Differentiation Factor 1 (GDF1) gene have been shown to cause heterotaxy with varied complex heart malformations of left–right patterning, in 23 individuals reported to date, either in monoallelic or biallelic state. We report three unrelated individuals exhibiting right isomerism with congenital heart defects, each originating from a consanguineous kindred of Arab‐Muslim descent. Using whole exome sequencing, a shared novel homozygous truncating c.608G > A (p.W203*) variant in the GDF1 gene was revealed as the molecular basis of their disease. Subsequently, targeted sequencing of this variant showed full segregation with the disease in these families, with a total of over 15 reportedly affected individuals, enabling genetic counseling, prenatal diagnosis, and planning of future pregnancies. Our findings further confirm the association of biallelic GDF1 variants, heterotaxy and congenital heart defects of left–right patterning, and expand the previously described phenotypic spectrum and mutational profile. Moreover, we suggest targeted screening for the p.W203* variant in relevant clinical circumstances.
Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature
Authors: El Abiad Jad M. , Robbins Sarah M. , Cohen Bernard , Levin Adam S. , Valle David L. , Morris Carol D. , de Macena Sobreira Nara L. 
Published: March 2020

AbstractOllier disease (OD) and Maffucci syndrome (MS) are characterized by multiple enchondromas. Patients with MS also have benign vascular overgrowths that become malignant in 8.5% of cases. OD is characterized by multiple enchondromas, typically unilateral in distribution with a predilection for the appendicular skeleton. MS is characterized by multiple enchondromas bilaterally distributed in most of the cases. Both disorders feature multiple swellings on the extremity, deformity around the joints, limitations in joint mobility, scoliosis, bone shortening, leg‐length discrepancy, gait disturbances, pain, loss of function, and pathological fractures. About 50% of patients with OD or MS develop a malignancy, such as chondrosarcoma, glioma, and ovarian juvenile granulosa cell tumor. To better understand the natural history of OD and MS, we reviewed 287 papers describing patients with OD and MS. We also created a survey that was distributed directly to 162 patients through Facebook. Here, we compare the review of the cases described in the literature to the survey's responses. The review of the literature showed that: the patients with OD are diagnosed at a younger age; the prevalence of chondrosarcomas among patients with OD or MS was ~30%; in four patients, vascular anomalies were identified in internal organs only; and, the prevalence of cancer among patients with OD or MS was ~50%. With these data, health care providers will better understand the natural history, severity, and prognosis of these diseases and the prevalence of malignancies in these patients. Here, we recommend new guidelines for the care of patients with OD and MS.
A Stimuli‐Responsive Macromolecular Gear: Interlocking Dynamic Helical Polymers with Foldamers
Authors: Rodríguez Rafael , Suárez‐Picado Esteban , Quiñoá Emilio , Riguera Ricardo , Freire Félix 
Published: March 2020

AbstractHerein, macromolecular gears composed of helical poly(phenylacetylenes) (PPAs) bearing short oligopeptides as pendant groups are described, in which the two structural motifs (framework and substituents) are combined. These gears are obtained by polymerization of the acetylene groups introduced at the C‐terminus of short oligopeptides formed by achiral (Aib)n units (n=1–3) derivatized at the N‐terminus by a single enantiomer (R or S) of α‐methoxy‐α‐trifluoromethylphenylacetic acid (MTPA, Mosher's reagent). The chiral information of the MTPA is transmitted to the achiral Aib fragments and, through either chiral tele‐induction and/or chiral harvesting mechanisms, is further transferred to the polyene backbones, which adopt preferentially P or M helical senses. Moreover, these materials also show dynamic behavior and respond to the action of external stimuli by either inverting the P/M sense and/or modifying the elongation in fully reversible processes.
Enhanced osteogenic activities of polyetheretherketone surface modified by poly(sodium p‐styrene sulfonate) via ultraviolet‐induced polymerization
Authors: Ma Zhangyu , Li Linlong , Shi Xincui , Wang Zongliang , Guo Min , Wang Yu , Jiao Zixue , Zhang Congxiao , Zhang Peibiao 
Published: March 2020

AbstractPolyetheretherketone (PEEK) is a promising bone and dental tissue engineering material with excellent mechanical properties and biocompatibility, but its biological inertness deficiency limits its clinical applications. In this study, poly(sodium p‐styrene sulfonate) (pNaSS) was grafted onto PEEK surface by ultraviolet (UV) induced polymerization to enhance its osteogenic activities. Attenuated total reflectance Fourier transformed Infrared (ATR‐FTIR) spectroscopy, scanning electron microscopy (SEM), and contact angle (CA) analysis were carried out to prove the success of grafting polymerization. Toluidine blue O (TBO) colorimetric assay was utilized to quantify the graft amounts of pNaSS. Results showed that the amounts of grafted pNaSS on the PEEK surface could be well‐controlled from 0.59 ± 0.07 mmol/cm2 to 5.08 ± 0.20 mmol/cm2, through adjusting the UV irradiation time and monomer concentration. The hydrophilicity of PEEK surface was increased and the in vitro mineralization ability was promoted with the introduction of pNaSS. Besides, this surface modification method did not influence the intrinsic mechanical properties of PEEK. in vitro biological studies revealed that cell adhesion, proliferation, and osteogenic differentiation of MC3T3‐E1 cells were enhanced with the increase of graft amounts.
A physical and chemical double enhancement strategy for 3D printing of cellulose reinforced nanocomposite
Authors: Wang Bo , Ding Guojiao , Chen Ken , Jia Shuai , Wei Jie , Wang Yongzhi , He Rujie , Shao Ziqiang 
Published: March 2020

AbstractNanocellulose as reinforcing filler added into resin matrix has been widely used in many studies, but it remains challenging when some rigorous applications are taken into consideration. In this study, a novel nanocomposite with high performance was successfully developed for stereolithography (SLA) through physical (cellulose nanocrystal [CNC] physical enhancement) and chemical (esterification reaction) double enhancement effects during post‐curing process. Compound additive (CA), composed of CNCs, butanetetracarboxylic acid, and sodium hypophosphite, were added into methacrylic acid resin to form a novel nanocomposite for SLA and post‐curing. Mechanical properties of samples added with CA were better than those added with CNC only. When the content of CNC in the CA was 0.5 wt%, the sample possessed optimal mechanical properties and improved thermal stability after post‐curing. Meanwhile, dynamic mechanical analysis showed that samples added with CA improved storage modulus and meaningfully increased toughness when used at near room temperature.
Mechanical reinforcement and wear resistance of aligned carbon nanotube/epoxy nanocomposites from nanoscale investigation
Authors: Wang Huaiyuan , Zhu Mingliang , Chang Li , Ye Lin 
Published: March 2020

AbstractThe anisotropic mechanical reinforcement compression and scratch resistance of epoxy nanocomposites filled with well‐aligned carbon nanotubes (ACNTs) sliding in different orientations were investigated by nanoindentation techniques. It was found the addition of ACNTs to epoxy very effectively improved the microscopic hardness, elastic modulus, and nanoscratch resistance of pure epoxy, and the nanocomposites in antiparallel orientation of ACNTs showed the highest enhancement. However, macroscopic compression test showed the normal orientation of ACNTs enhanced the compression strength the most. Based on nanoscale observations, new ACNTs related reinforcing and scratch resistance mechanisms were further proposed and discussed. This study will enhance the understanding of the anisotropic reinforcement effect of ACNTs with new characteristics, and will be helpful for the design and application of ACNT nanocomposite materials into precision instruments and related anisotropic nanomaterials.
Influence of crystallization on microcellular foaming behavior of polyamide 6 in a supercritical CO2‐assisted route
Authors: Han Shuo , Jiang Can , Yu Kesong , Mi Jianguo , Chen Shihong , Wang Xiangdong 
Published: March 2020

AbstractSupercritical CO2 as a blowing agent has attracted increasing interest in the preparation of microcellular polyamide 6 (PA6) foams. In this work, we developed the supercritical CO2‐assisted method to prepare a series of different microcellular PA6 foams by controlling its crystallization properties in two steps and carefully investigated the corresponding crystallization properties of modified PA6 and foams using various techniques. Initially, a multifunctional epoxy‐based chain extender (CE) was used to produce high‐melt strength‐modified PA6 with improved foaming ability; then, the resulting PA6 was foamed to prepare the microcellular foams of PA6 using supercritical CO2 as a blowing agent in a batch foaming route. The CE effectively enhanced the melt strength of PA6, and CE usage was optimized to obtain a threshold of high branching without crosslinking. The number of crystals was also adjusted by the saturation temperature. Furthermore, these crystals that formed during the saturation process served as high‐efficiency bubble nucleating agents and then limited the growth of bubbles at the same time. The microcellular foams of PA6 were successfully obtained with a cell size of 10.0 μm, and cell density of 2.0 × 109 cells/cm3 at the saturation temperature of 225°C.
Prioritizing marine invasive alien species in the European Union through horizon scanning
Authors: Tsiamis Konstantinos , Azzurro Ernesto , Bariche Michel , Çinar Melih E. , Crocetta Fabio , De Clerck Olivier , Galil Bella , Gómez Fernando , Hoffman Razy , Jensen Kathe R. , Kamburska Lyudmila , Langeneck Joachim , Langer Martin R. , Levitt‐Barmats Ya'arit , Lezzi Marco , Marchini Agnese , Occhipinti‐Ambrogi Anna , Ojaveer Henn , Piraino Stefano , Shenkar Noa , Yankova Maria , Zenetos Argyro , Žuljević Ante , Cardoso Ana Cristina 
Published: March 2020

Abstract

The disproportionately low presence of marine species in the list of invasive alien species (IAS) of Union concern of the European Union (EU) Regulation 1143/2014 does not fully acknowledge the threat they pose to the EU marine environment.
In this study, the first EU‐scale Horizon Scanning (HS) focusing on marine alien species was performed, aiming to deliver a ranked list of species that should be of high priority for risk assessment (Article 5 of the EU IAS Regulation).
Species absent from or with a limited distribution in EU marine waters were targeted. In total, 363 alien species were initially screened for HS by a panel of experts, including a broad range of taxonomic groups. Species were scored for their likelihood of arrival, establishment, spread, and impact in EU waters.
A consensus workshop ranked 267 species, including a subset of 26 prioritized species. These species are considered to be mainly introduced by shipping (fouling and ballast water), via the Suez Canal, and aquaculture activities. The 26 priority species were also scrutinized in terms of feasibility of their management; 18 of them were suggested for performing risk assessments on the basis of the EU IAS Regulation.
Since biological invasions are dynamic and connected with accelerated globalization and diversified human activities, we recommend HS to be repeated periodically to review the species already listed and assess new ones.
Are circle hooks effective management measures in the pelagic longline fishery for sharks in the Gulf of Gabès?
Authors: Saidi Bechir , Echwikhi Khaled , Enajjar Samira , Karaa Sami , Jribi Imed , Bradai Mohamed N. 
Published: March 2020

Abstract

This study evaluated the circle hook use as a tool for shark management in the pelagic longline fishery in the Gulf of Gabès.
The usual J‐hook No. 2 with 10° offset, which has been traditionally used by the fishery, was compared to the 18/0 non‐offset circle hook in an alternating fashion along the main line. In total, 22 experimental longline sets were deployed through the shark fishing seasons of 2016 and 2017 to examine the effects of hook types on the catch composition, the catch rates, the hooking location, and the status at haulback.
The catch composition differed significantly among hook types. Moreover, an overall increase in catch rates for the main species, the sandbar shark Carcharhinus plumbeus, and the shortfin mako shark Isurus oxyrinchus, was observed when using circle hooks.
There was no size‐selective effect of circle hooks for the common species. The circle hooks were not effective at reducing at‐haulback mortality of sandbar shark. Conversely, shortfin mako and smooth‐hound shark Mustelus mustelus showed significantly lower relative mortality at haulback with circle hooks than with J‐hooks. Furthermore, circle hooks were more frequently hooked externally than the J‐hooks for the three shark species.
Results demonstrated that the use of 18/0 non‐offset circle hooks in the pelagic shark longline fishery can reduce mortality at haulback for some species without any benefit for the dominant species, the sandbar shark.
Overall, it is difficult to promote the adoption of the use of circle hooks as a management measure in this specialized fishery. Management measures focusing on fishing effort controls, fishing closures in critical habitats, and size limits could have significant benefits for the conservation of shark species and may help to improve the sustainability of the shark fishery in the Gulf of Gabès.
Fuzzy control of self‐balancing robots: A control laboratory project
Authors: Odry Ákos , Fullér Róbert , Rudas Imre J. , Odry Péter 
Published: March 2020

AbstractThis paper presents a novel control laboratory project that provides hands‐on experience in feedback control concepts (embedded control systems) through dedicated assignments, with a particular focus on the design and implementation of fuzzy control. The project is structured around an inexpensive, portable self‐balancing robot (SBR), whose embedded system is realized using commercially available breakout boards as the first assignment. For the stabilization of the plant, students are guided to execute the essential stages of control system design, from system modeling and parameter optimization, over basic or advanced control strategy design in the MATLAB/Simulink environment, to both implementation and validation of the closed loop on the real robot. To demonstrate and foster the application of fuzzy logic, the second part of the paper introduces a simple control strategy based on fuzzy logic controllers. Then, a lookup table‐based implementation technique is described for the demonstration of manual interfacing and embedded coding of fuzzy control strategies. The proposed methods are clear and straightforward; they highly foster the understanding of feedback control techniques and allow students to gain vast knowledge in the practical implementations of control systems.
Mortality and admission to intensive care units after febrile neutropenia in patients with cancer
Authors: Aagaard Theis , Reekie Joanne , Jørgensen Mette , Roen Ashley , Daugaard Gedske , Specht Lena , Sengeløv Henrik , Mocroft Amanda , Lundgren Jens , Helleberg Marie 
Published: March 2020

AbstractFebrile neutropenia (FN) is a critical complication of chemotherapy associated with increased in‐hospital mortality. However, associations with increased mortality and intensive care unit (ICU) admissions during longer follow‐up are not established. Patients treated with standard first‐line chemotherapy for solid cancers at Rigshospitalet, Denmark in 2010‐2016 were included. Incidence rate ratios (IRR) of all‐cause, infectious and cardiovascular mortality, and ICU admissions after FN were analyzed by Poisson regression. Risk factors at the time of FN were analyzed in the subpopulation of patients with FN; all‐cause mortality was further stratified by the time periods 0‐30, 31‐365, and 366+ days after FN. We included 9018 patients with gastric (14.4%) and breast (13.1%) cancer being the most common, 51.2% had locally advanced or disseminated disease and the patients had a median Charlson Comorbidity Index score of 0 (interquartile range, 0‐0). During follow‐up, 845 (9.4%) experienced FN and 4483 (49.7%) died during 18 775 person‐years of follow‐up. After adjustment, FN was associated with increased risk of all‐cause mortality, infectious mortality, and ICU admissions with IRRs of 1.39 (95% CI, 1.24‐1.56), 1.94 (95% CI, 1.43‐2.62), and 2.28 (95% CI, 1.60‐3.24). Among those with FN, having a positive blood culture and low lymphocytes were associated with excess risk of death and ICU admissions (predominantly the first 30 days after FN), while elevated C‐reactive protein and low hemoglobin predicted mortality the first year after FN. The risk of death varied according to the time since FN; adjusted IRR per additional risk factor present for the time periods 0‐30, 31‐365, and 366+ days after FN were 2.00 (95% CI, 1.45‐2.75), 1.36 (95% CI, 1.17‐1.57), and 1.17 (95% CI, 0.98‐1.41). FN was associated with increased mortality and risk of ICU admissions. An objectively identifiable subgroup of patients among those with FN carried this excess risk.
Sp2 promotes invasion and metastasis of hepatocellular carcinoma by targeting TRIB3 protein
Authors: Zhu Yue , Cui Jie , Liu Jiatao , Hua Wei , Wei Wei , Sun Guoping 
Published: March 2020

AbstractObjectiveTo explore the biological function and molecular mechanism of Sp2 in hepatocellular carcinoma (HCC).MethodsTissue microarray immunohistochemistry and western blot were used to study the expression of Sp2 in hepatocellular tissue and adjacent non‐neoplastic tissues (ANT). In HCC cell lines, the role of Sp2 was determined by in vitro experiments such as CCK8, clone formation test, Transwell assay, wound‐healing assay, and flow cytometry apoptotic analysis, and its possible mechanism was analyzed.ResultsCompared with ANT, Sp2 expression in HCC tissues was significantly up‐regulated, which was strongly associated with stage of tumor and poor prognosis of patients. TCGA database were further confirmed these results. Besides, functional studies had shown that Sp2 knockdown not only leads to a decrease in cell proliferation and an increase in cell apoptosis but also inhibits the cells' abilities of migration and invasion. Sp2 silencing could inhibit the expression of TRIB3 protein and down‐regulate the endoplasmic reticulum stress (ERS) level of HCC.ConclusionSp2 may play a part in promoting cancer by regulating TRIB3 protein, which may be a factor of prognostic and a potential new therapeutic target for HCC.
Enzymatic Formation of Rufoschweinitzin, a Binaphthalene from the Basidiomycete Cortinarius rufoolivaceus
Authors: Thiele Wiebke , Froede Rita , Steglich Wolfgang , Müller Michael 
Published: March 2020

AbstractDimeric polyketides are widespread fungal secondary metabolites. They occur in both ascomycetes and basidiomycetes and, therefore, across fungal phyla. Here we report the isolation of a new binaphthalene, named rufoschweinitzin, from the basidiomycete Cortinarius rufoolivaceus. Rufoschweinitzin consists of two symmetrically 4,4′‐coupled torachrysone‐8‐O‐methyl ether moieties. Furthermore, we have identified a binaphthalene biosynthetic gene cluster in an unrelated fungus, the ascomycete Xylaria schweinitzii. Heterologous expression of the encoded cytochrome P450 enzyme verified its coupling activity: dimerization of torachrysone‐8‐O‐methyl ether led to the formation of rufoschweinitzin alongside a hitherto unknown regioisomer, now named alloschweinitzin. We have thus demonstrated enzymatic formation of the basidiomycete's metabolite rufoschweinitzin and made the regiochemistry of alloschweinitzin accessible with an ascomycete‐derived enzyme.
Management of a complex scalp defect with cryopreserved placental membrane containing viable cells resulted in rapid wound closure
Authors: Fife Tim A. , Thote Tanushree , Saunders Molly C. 
Published: March 2020

AbstractReconstructive methods are most commonly used to treat scalp defects. However, patients with complex defects are often not good candidates for surgical procedures due to the severity of the wound, advanced patient age, and multiple comorbidities. In these instances, alternative nonsurgical advanced therapies should be considered.
Excited‐State Electron Transfer in 1,1,4,4‐Tetracyanobuta‐1,3‐diene (TCBD)‐ and Cyclohexa‐2,5‐diene‐1,4‐diylidene‐Expanded TCBD‐Substituted BODIPY‐Phenothiazine Donor–Acceptor Conjugates
Authors: Poddar Madhurima , Jang Youngwoo , Misra Rajneesh , D'Souza Francis 
Published: March 2020

AbstractA new set of donor–acceptor (D–A) conjugates capable of undergoing ultrafast electron transfer were synthesized using 4,4‐difluoro‐4‐bora‐3a,4a‐diaza‐s‐indacene (BODIPY)‐substituted phenothiazine, SM1–SM3, by a Pd‐catalyzed Sonogashira cross‐coupling reaction and a [2+2] cycloaddition–electrocyclic ring‐opening reaction. The incorporation of 1,1,4,4‐tetracyanobuta‐1,3‐diene (TCBD) and cyclohexa‐2,5‐diene‐1,4‐diylidene‐expanded TCBD (abbreviated as DCNQ=dicyanodiquinodimethane) in BODIPY‐substituted phenothiazine resulted in significant perturbation of the optical and electronic properties. The absorption spectrum of both SM2 and SM3 showed red shifted absorption as compared to SM1. Additionally, both SM2 and SM3 exhibited a distinct intramolecular charge‐transfer (ICT) transition in the near‐IR region more so for SM3. The electrochemical study revealed multi‐redox processes due to the presence of redox‐active phenothiazine, BODIPY, TCBD or DCNQ entities. Using data from spectral, electrochemical and computational studies, an energy‐level diagram was established to witness excited‐state electron‐transfer events. Finally, evidence of electron transfer and their kinetic information was secured from studies involving a femtosecond transient absorption technique. The time constants for excited‐state electron‐transfer events in the case of SM2 and SM3 were less than 5 ps revealing ultrafast processes.
Hetero‐Coencapsulation within a Supramolecular Cage: Moving away from the Statistical Distribution of Different Guests
Authors: Bravin Carlo , Licini Giulia , Hunter Christopher A. , Zonta Cristiano 
Published: March 2020

AbstractBeside sensing and delivery, another peculiar property arising from confinement in discrete molecular hosts comes from the possibility to have in close proximity, and in defined position, two different molecules (hetero‐coencapsulation). This phenomenon can be tuned considering steric and electronic properties of the guests. In this work, a study on the parameters affecting homo‐ and hetero‐coencapsulation processes within a supramolecular cage is reported. In particular, different benzoate guests were bound within a supramolecular cage containing two metal‐binding sites and the experimental binding thermodynamics measured. Unexpectedly, from competition experiments it was observed that the maximum concentration of hetero‐coencapsulation is achieved if a weakly binding guest is used to partially displace a strongly binding guest.