bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel genetic testing model: A collaboration between genetic counselors and nephrology
Authors: Amlie‐Wolf Louise , Baker Laura , Hiddemen Olivia , Thomas Morgan , Burke Christine , Gluck Caroline , Zaritsky Joshua J. , Gripp Karen W. 
Published: January 2021

AbstractMany barriers to genetic testing currently exist which delay or prevent diagnosis. These barriers include wait times, staffing, education, and cost. Specialists are able to identify patients with disease that may need genetic testing, but lack the genetics support to facilitate that testing in the most cost, time, and medically effective manner. The Nephrology Division and the Genetic Testing Stewardship Program at Nemours A.I. duPont Hospital for Children created a novel service delivery model in which nephrologists and genetic counselors collaborate in order to highlight their complementary strengths (clinical expertise of nephrologists and genetics and counseling skills of genetic counselors). This collaboration has reduced many barriers to care for our patients. This workflow facilitated the offering of genetic testing to 76 patients, with 86 tests completed over a 20‐month period. Thirty‐two tests were deferred. Twenty‐seven patients received a diagnosis, which lead to a change in their medical management, three of whom were diagnosed by cascade family testing. Forty‐two patients had a negative result and 16 patients had one or more variants of uncertain significance on testing. The inclusion of genetic counselors in the workflow is integral toward choosing the most cost and time effective genetic testing strategy, as well as providing psychosocial support to families. The genetic counselors obtain informed consent, and review genetic test results and recommendations with the patient and their family. The availability of this program to our patients increased access to genetic testing and helps to provide diagnoses and supportive care.
Palladium‐Catalyzed Allylic Cycloaddition of Vinylethylene Carbonates with 3‐Nitrochromone
Authors: Zhao Can , Shah Babar Hussain , Li Hongfang , Wu Xue , Zhang Yong Jian 
Published: January 2021

AbstractAn efficient method for the enantio‐ and diastereoselective formation of furanochromanones has been developed via Pd‐catalyzed asymmetric allylic cycloaddition of vinylethylene carbonates with 3‐nitrochromone. By using a palladium complex generated in situ from [Pd2(dba)3]⋅CHCl3 and phosphoramidite L4 as a catalyst, the transformation allows to rapid access furanochromanones bearing versatile nitro‐group and multi‐stereocenters in high yields with excellent enantioselectivities and moderate diastereoselectivities.
Multisite Study of Evoked Potentials in Rett Syndrome
Authors: Saby Joni N. , Benke Timothy A. , Peters Sarika U. , Standridge Shannon M. , Matsuzaki Junko , Cutri‐French Clare , Swanson Lindsay C. , Lieberman David N. , Key Alexandra P. , Percy Alan K. , Neul Jeffrey L. , Nelson Charles A. , Roberts Timothy P.L. , Marsh Eric D. 
Published: January 2021

ObjectiveThe aim of the current study was to evaluate the utility of evoked potentials as a biomarker of cortical function in Rett syndrome (RTT). As a number of disease‐modifying therapeutics are currently under development, there is a pressing need for biomarkers to objectively and precisely assess the effectiveness of these treatments.MethodYearly visual evoked potentials (VEPs) and auditory evoked potentials (AEPs) were acquired from individuals with RTT, aged 2 to 37 years, and control participants across 5 sites as part of the Rett Syndrome and Related Disorders Natural History Study. Baseline and year 1 data, when available, were analyzed and the repeatability of the results was tested. Two syndrome‐specific measures from the Natural History Study were used for evaluating the clinical relevance of the VEP and AEP parameters.ResultsAt the baseline study, group level comparisons revealed reduced VEP and AEP amplitude in RTT compared to control participants. Further analyses within the RTT group indicated that this reduction was associated with RTT‐related symptoms, with greater severity associated with lower VEP and AEP amplitude. In participants with RTT, VEP and AEP amplitude was also negatively associated with age. Year 1 follow‐up data analyses yielded similar findings and evidence of repeatability of EPs at the individual level.InterpretationThe present findings indicate the promise of evoked potentials (EPs) as an objective measure of disease severity in individuals with RTT. Our multisite approach demonstrates potential research and clinical applications to provide unbiased assessment of disease staging, prognosis, and response to therapy. ANN NEUROL 2021;89:790–802
Development of dual purpose, industrially important PLA–PEG based coated abrasives and packaging materials
Authors: Sundar N. , Stanley S. Johan , Kumar S. Ananda , Keerthana P. , Kumar G. Ananda 
Published: January 2021

AbstractFabrication of industrially valuable PLA based coated abrasive and packaging products are made using bio‐polymeric blends of PLA–PEG without involving the use of hazardous halogen based solvents, such as, chloroform and dichloromethane. Accordingly, an attempt has been made in our study to substitute a relatively less harmful ethyl acetate (EA) solvent in place of the toxic halogenated solvents to dissolve both PLA and PEG polymer blends to produce an environmentally safe PLA–PEG coating and film formulation in EA. This attempt in turn eliminates and replaces the use of non‐degradable polymer coatings, (such as, acrylates, PVC, and synthetic latex) on Kraft paper thereby contributing to sustainability and environmental safety besides reduction in waste disposal to realize a cleaner environment. PLA is a hard and brittle polymer, which restricts its unexplored industrial user applications. On the other hand, PEG toughens the brittle PLA due to its plasticizing action. Hence, PLA–PEG polymer blends were prepared using increasing percentage of PEG content systematically from 5% to 25% and the % of PEG in PLA was optimized to 10% to get the maximum toughening effect in PLA–PEG formulation, which is ascertained by differential scanning calorimetry analysis. FTIR analysis confirmed the possible interaction that occurred between PLA and PEG, due to which a shift in vibration frequency of the PLA carbonyl group is observed. The other important test results from mechanical properties, contact angle, surface roughness, Cobb values, WVTR, and SEM analysis support to reveal that PLA–PEG (10%) blend is the best coating and film forming material on Kraft paper for the fabrication of industrially valuable both coated abrasive and packaging products to demonstrate its dual purpose applications.
Protective effect of rapamycin against acrylamide‐induced hepatotoxicity: The associations between autophagy, apoptosis, and necroptosis
Authors: Erfan Omnia S. , Sonpol Hany M. A. , Abd El‐kader Marwa 
Published: January 2021

AbstractAcrylamide (ACRL) was demonstrated to induce hepatotoxicity and programmed cell death (PCD). Rapamycin (RAPA)‐induced autophagy had been reported to limit the progression of hepatocellular injury in experimental models. This research was designed to study two death pathways involved in ACRL‐induced hepatotoxicity and the modulating effect of RAPA on the resulting hepatic injury. Thirty‐six adult male rats were divided into three groups: control group, ACRL‐treated group (20 mg kg/day), and the last group co‐treated with ACRL plus RAPA (0.5 mg kg/day). Drugs were administered for 21 days via oral gavage. Blood samples were collected to assess alanine aminotransferase (ALT) and aspartate aminotransferase (AST). Livers were dissected; parts were used for detection of superoxide dismutase (SOD) and malondialdehyde (MDA) tissue levels. Other parts were processed for hematoxylin and eosin, Masson's trichrome staining, immunostaining for microtubule‐associated proteins 1A/1B light chain 3B (LC3), ubiquitin‐binding protein (p62), caspase‐3, and receptor‐interacting protein kinase 1 (RIPK1). ACRL induced a significant elevation in ALT, AST, MDA levels, and reduction in the SOD level. ACRL also induced hepatocellular injury, fibrosis, and defective autophagy indicated by elevation of LC3 and p62 and increased p62/LC3 ratio. Moreover, it increased the apoptotic (caspase‐3) and necroptotic (RIPK1) markers expression. RAPA significantly reduced liver enzymes, oxidative stress, fibrosis, and improved liver histology. Moreover, RAPA decreased p62/LC3 ratio indicated enhanced autophagy, and significantly reduced caspase‐3 and RIPK1 expression. In conclusion, RAPA maintained autophagic activity which may save the hepatocytes from PCD and enhance cell viability.
Identification of UBE3A Protein in CSF and Extracellular Space of the Hippocampus Suggest a Potential Novel Function in Synaptic Plasticity
Authors: Dodge Andie , Willman Jonathan , Willman Matthew , Nenninger Austin W. , Morrill Nicole K. , Lamens Kristina , Greene Hayden , Weeber Edwin J. , Nash Kevin R. 
Published: January 2021

Disruptions to the maternally inherited allele UBE3A, encoding for an E3 ubiquitin ligase, leads to the manifestation of Angelman Syndrome (AS). While this disorder is rare, the symptoms are severe and lifelong including but not limited to: intractable seizures, abnormal EEG's, ataxic gait, lack of speech, and most notably an abnormally happy demeanor with easily provoked laughter. Currently, little is known about the neurophysiological underpinnings of UBE3A leading to such globally severe phenotypes. Utilizing the newest AS rat model, comprised of a full UBE3A deletion, we aimed to elucidate novel mechanistic actions and potential therapeutic targets. This report demonstrates for the first time that catalytically active UBE3A protein is detectable within cerebrospinal fluid (CSF) of wild type rats but distinctly absent in AS rat CSF. Microdialysis within the rat hippocampus also showed that UBE3A protein is located in the interstitial fluid of wild type rat brains but absent in AS animals. This protein maintains catalytic activity and appears to be regulated in a dynamic activity‐dependent manner.Lay SummaryAngelman syndrome (AS) is a rare genetic disorder caused by the loss of the UBE3A gene within the central nervous system. Although we have identified the gene responsible for AS, we still have a long way to go to fully understand its function in vivo. Here we report that UBE3A is present within normal cerebrospinal fluid (CSF) but distinctly absent in AS CSF. Furthermore, we demonstrate that UBE3A is secreted and that this may occur in a dynamic activity‐dependent fashion. Extracellular UBE3A maintained its ubiquitinating activity, thus suggesting that UBE3A may have a novel role outside of neurons. Autism Res 2021, 14: 645–655. © 2021 International Society for Autism Research and Wiley Periodicals LLC
Non‐financial strategy disclosure and environmental, social and governance score: Insight from a configurational approach
Authors: Santamaria Riccardo , Paolone Francesco , Cucari Nicola , Dezi Luca 
Published: January 2021

AbstractEvaluating the determinants of environmental, social and governance (ESG) score is significant for topic for academics and regulators and companies. Despite its importance, little attention has been paid to non‐financial strategy disclosure and how to communicate non‐financial information. However, in the recent years, attention to the topic has considerably increased as demonstrated, in the European context, by the introduction of the non‐financial reporting directive in 2014. Therefore, it is important to analyse how the quantity and quality of disclosure influence the ESG score. To explore this relationship, a configurational analysis aimed at 31 Italian listed companies was studied by fuzzy‐set qualitative comparative analysis. The results showed that there were three path types driving the ESG score and that integrated reporting played a highly significant role in promoting a high ESG score. Specifically, we show the importance of assessing the combinations of quality and quantity disclosures for ESG score through configurational thinking. These results provide a first theoretical basis for the effectiveness of disclosure measurements on ESG score, charting the future direction for environmental management studies.
Phase 1 trial of olaratumab monotherapy and in combination with chemotherapy in pediatric patients with relapsed/refractory solid and central nervous system tumors
Authors: Mascarenhas Leo , Ogawa Chitose , Laetsch Theodore W. , Weigel Brenda J. , Bishop Michael W. , Krystal Julie , Borinstein Scott C. , Slotkin Emily K. , Muscal Jodi A. , Hingorani Pooja , Levy Donna E. , Mo Gary , Shahir Ashwin , Wright Jennifer , DuBois Steven G. 
Published: January 2021

AbstractOlaratumab is a monoclonal antibody that specifically binds to platelet‐derived growth factor receptor alpha (PDGFRα) and blocks receptor activation. We conducted a phase 1 trial to evaluate the safety of olaratumab and determine a recommended dose in combination with three different chemotherapy regimens in children. Patients <18 years with relapsed/refractory solid or central nervous system tumors were enrolled to two dose levels of olaratumab. Patients received olaratumab monotherapy at 15 mg/kg (Part A) or 20 mg/kg (Part B) on Days 1 and 8 of the first 21‐day cycle, followed by olaratumab combined with standard fixed doses of chemotherapy with doxorubicin, vincristine/irinotecan, or high‐dose ifosfamide by investigator choice for subsequent 21‐day cycles. In Part C, patients received olaratumab 20 mg/kg plus assigned chemotherapy for all cycles. Parts A‐C enrolled 68 patients across three chemotherapy treatment arms; olaratumab in combination with doxorubicin (N = 16), vincristine/irinotecan (N = 26), or ifosfamide (N = 26). Three dose‐limiting toxicities (DLTs) occurred during olaratumab monotherapy (at 15 mg/kg, grade [G] 4 alanine aminotransferase [ALT]; at 20 mg/kg, G3 lung infection and G3 gamma‐glutamyl transferase). One DLT occurred during vincristine/irinotecan with olaratumab 20 mg/kg therapy (G3 ALT). Treatment‐emergent adverse events ≥G3 in >25% of patients included neutropenia, anemia, leukopenia, lymphopenia, and thrombocytopenia. Pharmacokinetic profiles of olaratumab with chemotherapy were within the projected range based on adult data. There was one complete response (rhabdomyosarcoma [Part B vincristine/irinotecan arm]) and three partial responses (two rhabdomyosarcoma [Part A doxorubicin arm and Part C doxorubicin arm]; one pineoblastoma [Part B vincristine/irinotecan arm]). Olaratumab was tolerable and safely administered in combination with chemotherapy regimens commonly used in children and adolescents.
Synergistic Nanostructured MnOx/TiO2 Catalyst for Highly Selective Synthesis of Aromatic Imines
Authors: Sudarsanam Putla , Köckritz Angela , Atia Hanan , Amin Mohamad Hassan , Brückner Angelika 
Published: January 2021

AbstractThis work reports the development of a synergistic nanostructured MnOx/TiO2 catalyst, with highly dispersed MnOx nanoparticles (4.5±1 nm) on shape‐controlled TiO2 nanotubes (8–11 nm width and 120–280 nm length), for selective synthesis of valuable aromatic imines at industrially important conditions. Pristine TiO2 nanotubes exhibited 97 % imine selectivity at a 38.3 % benzylamine conversion, whereas very low imine selectivity was obtained over commercial TiO2 materials, indicating the catalytic significance of shape‐controlled TiO2 nanotubes. The MnOx nanoparticle/TiO2 nanotube (10 wt% Mn) catalyst calcined at 400 °C showed the best activity with 95.6 % benzylamine conversion and 99.9 % imine selectivity. This catalyst exhibited good recyclability for four times and is effective for converting numerous benzylamines into higher yields of imines. The high catalytic performance of MnOx/TiO2 nanotubes was attributed to higher number of redox sites (Mn3+), high dispersion of Mn species, and shape‐controlled structure of TiO2, indicating that this catalyst could be a promising candidate for selective oxidation reactions.
Simple RuCl3‐catalyzed N‐Methylation of Amines and Transfer Hydrogenation of Nitroarenes using Methanol
Authors: Sarki Naina , Goyal Vishakha , Tyagi Nitin Kumar , Puttaswamy  , Narani Anand , Ray Anjan , Natte Kishore 
Published: January 2021

AbstractMethanol is a potential hydrogen source and C1 synthon, which finds interesting applications in both chemical synthesis and energy technologies. The effective utilization of this simple alcohol in organic synthesis is of central importance and attracts scientific interest. Herein, we report a clean and cost‐competitive method with the use of methanol as both C1 synthon and H2 source for selective N‐methylation of amines by employing relatively cheap RuCl3.xH2O as a ligand‐free catalyst. This readily available catalyst tolerates various amines comprising electron‐deficient and electron‐donating groups and allows them to transform into corresponding N‐methylated products in moderate to excellent yields. In addition, few marketed pharmaceutical agents (e. g., venlafaxine and imipramine) were also successfully synthesized via late‐stage functionalization from readily available feedstock chemicals, highlighting synthetic value of this advanced N‐methylation reaction. Using this platform, we also attempted tandem reactions with selected nitroarenes to convert them into corresponding N‐methylated amines using MeOH under H2‐free conditions including transfer hydrogenation of nitroarenes‐to‐anilines and prepared drug molecules (e. g., benzocaine and butamben) as well as key pharmaceutical intermediates. We further enable one‐shot selective and green syntheses of 1‐methylbenzimidazole using ortho‐phenylenediamine (OPDA) and methanol as coupling partners.
A Durable Metalloporphyrin 2D‐Polymer for Photocatalytic Hydrogen and Oxygen Evolution from River and Sea Waters
Authors: Ranjeesh Kayaramkodath Chandran , George Leena , Maibam Ashakiran , Krishnamurty Sailaja , Babu Sukumaran Santhosh 
Published: January 2021

AbstractIt is highly imaginary that the outcome of a combination of two complementary resources leads to answer an alarming global issue. One such possible example is the solar seawater splitting for ‘clean fuel’ H2 generation. Since the catalytic activity and stability of the photocatalysts are substantially challenged in seawater, the design of an efficient and stable photocatalyst is highly desirable. Herein, we demonstrate the solar seawater splitting by a two‐dimensional polymer catalyst derived from metalloporphyrin bearing multi‐hydroxyl groups. A bimetallic (Co and Ni) porphyrin 2D‐polymer exhibits excellent long‐term durability of 15 cycles of H2 and O2 generation in 200 days from pure water without a considerable decrease in efficiency. Detailed studies using river and seawaters also show the reliable performance of the catalyst over repeated cycles. Here the deactivation modes of catalytic activity have been nullified by the layered metalloporphyrin polymer structure through stable π−π stacking, signifying the molecular design of 2D‐polymer photocatalyst.
Experimental study on the flow field characteristics of the two‐layer impinging stream mixer
Authors: Zhang Jianwei , Ding Changwei , Dong Xin , Feng Ying , Ma Fanrong 
Published: January 2021

AbstractThe impinging stream mixer is an efficient equipment for fluid mixing with potential for many chemical engineering and industrial applications. In this paper, the flow field characteristics of symmetrical and asymmetrical flow field in the two‐layer impinging stream mixer were investigated. The concentration field was obtained by planar laser induced fluorescence (PLIF) and the velocity field was obtained by time resolved particle image velocimetry (TR‐PIV). The velocity field was reconstructed by proper orthogonal decomposition (POD) to extract dominant coherent structures from the perspective of energy. The influence of Reynolds number, nozzle diameter, and nozzle spacing on flow field energy and mixing rate were investigated. The results show that in the symmetrical flow field, the flow field energy and mixing rate increased with the Reynolds number. With the increase of nozzle diameter, the flow field energy and mixing rate increased firstly and then decreased. In the asymmetrical flow field, the flow field energy was higher than that of the symmetrical flow field, while the mixing rate was smaller than that of the symmetrical flow field.
Electrocatalytic CO2 Reduction with Re‐Based Spiro Bipyridine Complexes: Effects of the Local Proton in the Second Coordination Sphere†
Authors: Yang Yong , Zhang Ziyun , Zhang Zhenyu , Tang Chao , Chang Xiaoyong , Duan Lele 
Published: January 2021

Main observation and conclusionWe report herein a Re‐based tricarbonyl catalyst [fac‐Re(L1)(CO)3Cl] (Re1) bearing a spiro center and a phenol group as a local proton source in the second coordination sphere. Due to the large steric spiro group, dimerization of one‐electron reduced species was completely eliminated, improving the stability of Re1. Simultaneously, the phenol group in the second coordination sphere improves the formation of an H‐bonding chain that promotes the protonation of CO2 reduction intermediates, boosting the electrocatalytic CO2 reduction activity of Re1. Mechanistic studies reveal that the doubly reduced complex Re1b is active for CO2 addition.
Enhanced Removal of Pb(II) from Aqueous Solution using EDTA‐Modified Magnetic Graphene Oxide
Authors: Xing Cuijuan , Xia Aiqing , Yu Ling , Dong Lili , Hao Yongchao , Qi Xingcun 
Published: January 2021

AbstractEthylenediaminetetraacetic acid (EDTA) groups are successfully linked to magnetic graphene oxide (MGO) by a silanization reaction between N‐(trimethoxysilylpropyl) ethylenediaminetriacetic acid and OH on the surface of MGO. The EDTA‐modification enhances the adsorption capacity of MGO because of the chelating ability of EDTA. The adsorption behavior of Pb(II) and the effects of solution conditions such as contact time, initial Pb(II) concentration, and pH (1–9) are investigated. The adsorption capacity for Pb(II) removal is found to be 211.3 mg g−1 and the adsorption process is completed at pH 6.8 within 50 min. The process is shown to follow a pseudo‐second‐order kinetic rate. The isothermal data reveal that the adsorption process of Pb(II) is well‐matched with the Freundlich model. In addition, the magnetic composite can be effectively and simply separated by an external magnetic field. Therefore, MGO‐EDTA can potentially serve as an adsorbent for the separation and removal of Pb(II) from water.