bluuebunny/crossref_metadata_2025_split huggingface dataset:
Expanding phenotype of FAM111B‐related disease focusing on liver involvement: Literature review, report of a case with end‐stage liver disease and proposal for a new acronym
Authors: Macchiaiolo Marina , Panfili Filippo M. , Vecchio Davide , Cortellessa Fabiana , Gonfiantini Michaela V. , Buonuomo Paola S. , Pietrobattista Andrea , Francalanci Paola , Travaglini Lorena , Bertini Enrico S. , El Hachem Maya , Bartuli Andrea 
Published: July 2022

AbstractPOIKiloderma, tendon contractures, myopathy, pulmonary fibrosis is a congenital multisystem disorder due to FAM111B dominant variants. We present a literature review focusing on the frequency and the impact of hepatic involvement and a case report of a patient with severe end‐stage liver disease. Whole exome sequencing (WES) was conducted on the proband and his parents. A de novo FAM111B: c.1879A > G; (p.Arg627Gly) variant was identified. Hepatic involvement is present in 11 out of the 30 patients described in the literature, with different levels of dysfunction ranging from mild transaminitis to liver fibrosis found in three different cases by liver biopsies. Liver involvement seems to be a significant cause of morbidity. We propose to modify the previous acronym in POIK‐TMPL: including POIKiloderma, tendon contractures, myopathy, pulmonary fibrosis/pancreas insufficiency and cancer, liver involvement/lymphedema. Moreover, we suggest screening patients with FAM111B variants for liver involvement from the first month of life and continue with an appropriate follow‐up. Further studies are needed to better understand this frequent complication.
Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry
Authors: Polgreen Lynda E. , Bay Luisa , Clarke Lorne A. , Guffon Nathalie , Jones Simon A. , Muenzer Joseph , Flores Ana Lorena , Wilson Kathryn , Viskochil David 
Published: July 2022

AbstractMucopolysaccharidosis Type I (MPS I) is caused by deficiency of α‐L‐iduronidase. Short stature and growth deceleration are common in individuals with the attenuated MPS I phenotype. Study objectives were to assess growth in individuals with attenuated MPS I enrolled in The MPS I Registry while untreated and after initiation of enzyme replacement therapy (ERT) with laronidase (recombinant human iduronidase). Individuals in the MPS I Registry with at least one observation for height and assigned attenuated MPS I phenotype as of September 2020 were included. The cohort included 142 males and 153 females 2–18 years of age. Age and sex adjusted standardized height‐for‐age z‐scores during the natural history and ERT‐treatment periods were assessed using linear mixed model repeated measures analyses. Growth curves were estimated during both periods and compared to standard growth charts from the Center for Disease Control (CDC). There was a significantly slower decline in height z‐scores with age during the ERT‐treated period compared to the natural history period. Estimated average height z‐scores in the ERT‐treatment versus the natural history period at age 10 were −2.4 versus −3.3 in females and −1.4 versus −2.9 in males (females first treated 3 year; males <4.1 year). While median height remained below CDC standards during both the natural history and ERT‐treated periods for individuals with attenuated MPS I, laronidase ERT was associated with slower declines in height z‐scores.
Copper‐Catalyzed Radical Difluoromethylation‐Peroxidation of Alkenes: Synthesis of β‐Difluoromethyl Peroxides
Authors: Liu Fan , Lv Leiyang , Ma Yangyang , Li Zhiping 
Published: July 2022

AbstractA convenient and efficient copper‐catalyzed three‐component difluoromethylation‐peroxidation of alkenes with commercially‐available sodium difluoromethanesulfinate and tert‐butyl hydroperoxide has been developed. This protocol enables the synthesis of a variety of β‐difluoromethyl peroxides under mild conditions. Versatile synthetic transformations of the difluoromethyl peroxides have also been explored.
Insulin overdose complicated by treatment‐induced acute hepatic steatosis in a nondiabetic patient
Authors: Okamoto Noriyuki , Onishi Shinsuke , Onodera Toshiyuki , Tawara Toshihiro , Okamoto Hiroyuki , Shimizu Takafumi , Oshiro Akiko , Morishita Yuka , Nara Satoshi 
Published: July 2022

BackgroundThere are few reports of dextrose‐associated hepatic steatosis during insulin overdose treatment. Reports in nondiabetic patients are extremely rare. There is inadequate knowledge about the clinical course and treatment.Case PresentationA 37‐year‐old previously healthy, nondiabetic man self‐administered 5,925 IU of insulin. On admission, his liver function tests were normal. However, following continued dextrose treatment, they increased, and he was diagnosed with hepatic steatosis. The liver function tests improved with decreasing dextrose dosage, and he was asymptomatic on discharge.ConclusionAcute hepatic steatosis may occur in nondiabetic and diabetic patients during treatment requiring large doses of dextrose infusion, such as for an insulin overdose. In addition, the degree of liver damage might also be related to the dextrose dose. Therefore, careful glycemic control and minimization of the dextrose dosage are recommended for diabetic and nondiabetic patients.
A Theoretical Proposal for an Ultrabroadband Metamaterial Absorber for the Circular Polarization Waves Based on Anapole Mode in the Near‐Infrared Region
Authors: Qu Jia , Pan Hao , Zhang Hai‐feng 
Published: July 2022

AbstractThe absorber excited by anapole response is in the spotlight owing to its non‐radiating merits, whereas the existing designs suffer from poor bandwidth and absorption. Furthermore, the circular polarization (CP) wave promises numerous application scenarios; thus, the absorbers aimed at it are sorely called for. An ultrabroadband metamaterial absorber (MMA) for the CP waves based on anapole mode is proposed in this paper. In this structure, the symmetrical split‐ring resonators (SRRs) are acted as the resonant unit to excite the toroidal dipole (TP) and electric dipole (EP) moments in the near‐infrared region. By applying the perfect electric conductor mirror effect, the enhanced field energy results in the absorption peak in the given band. Aimed at optimizing the absorption performance of the designed MMA, the SRRs are rotated, introduce the cavity resonance, and add the nickel patch to excite more electromagnetic resonance. The final optimized MMA can achieve an absorption exceeding 90% in an ultrabroadband of 1228–2156.7 nm, whose relative absorption bandwidth is 54.9%. Meanwhile, on account of its highly symmetrical structure, the MMA is insensitive to the polarization state of the CP waves. These splendid properties make the MMA a good candidate for potential applications.
Distale C−H‐Glykosylierung durch Ruthenium(II)‐Katalyse: Modularer Aufbau vonmeta‐C‐Aryl‐Glykosiden
Authors: Wu Jun , Kaplaneris Nikolaos , Pöhlmann Julia , Michiyuki Takuya , Yuan Binbin , Ackermann Lutz 
Published: July 2022

AbstractDie weite Verbreitung vonC‐Arylglykosiden in biologisch aktiven Naturstoffen und zugelassenen Arzneimitteln hat seit langem zur Entwicklung effizienter Strategien für ihre selektive Synthese motiviert. Kreuzkupplungen wurden häufig verwendet, waren aber größtenteils auf Palladiumkatalysatoren und vorfunktionalisierten Substraten angewiesen, während sich die Ruthenium‐katalysierte Herstellung vonC‐Arylglykosiden bisher als schwer zugänglich erwiesen hat. Wir stellen hier eine vielseitige Ruthenium(II)‐katalysiertemeta‐C−H‐Glykosylierung vor, ummeta‐C‐Arylglykoside aus leicht verfügbaren Glykosylhalogenid‐Donoren zu gewinnen. Die Robustheit der Ruthenium‐Katalyse zeigte sich in milden Reaktionsbedingungen, hervorragender anomerer Selektivität und ausschließlichermeta‐Selektivität.
Tailoring Bond Microenvironments and Reaction Pathways of Single‐Atom Catalysts for Efficient Water Electrolysis
Authors: Zheng Weiqiong , Zhu Ran , Wu Huijuan , Ma Tian , Zhou Hongju , Zhou Mi , He Chao , Liu Xikui , Li Shuang , Cheng Chong 
Published: July 2022

AbstractSingle‐atom sites (SASs) are commonly stabilized and influenced by neighboring atoms in the host; disclosing the structure–reactivity relationships of SASs in water electrolysis is one of the grand challenges originating from the tremendous wealth of support materials with complex structures. Through a multidisciplinary view of the design principles, synthesis strategies, characterization techniques, and theoretical analysis of structure–performance correlations, this timely Review is dedicated to summarizing the most recent progress in tailoring bond microenvironments on different supports and discussing the reaction pathways and performance advantages of different SAS structures for water electrolysis. The essence and mechanisms of how SAS structures influence electrocatalysis and the critical requirements for future developments are discussed. Finally, the challenges and perspectives are also provided to stimulate the practical, widespread utilization of SAS catalysts in water‐splitting electrolyzers.
Heck Reaction of N‐Heteroaryl Halides for the Concise Synthesis of Chiral α‐Heteroaryl‐substituted Heterocycles
Authors: Li Bowen , Luo Bangke , Yang He , Tang Wenjun 
Published: July 2022

AbstractThe Heck reaction between N‐heteroaryl halides and heterocyclic alkenes provides a convenient approach to biologically relevant α‐heteroaryl functionalized heterocycles, yet reactions of this type have been challenging due to strong N‐heteroaryl coordination to palladium metal, which causes catalyst poisoning. In this report, an efficient palladium‐catalyzed Heck reaction between N‐heteroaryl halides and heterocyclic olefins is established, leading to a variety of α‐heteroaryl substituted heterocycles. The method features an unprecedented broad substrate scope and excellent functional group compatibility. The employment of a sterically bulky P, P=O ligand containing an anthryl moiety is crucial for this transformation due to the coordinative unsaturation facilitated by its steric bulkiness. The asymmetric variant of the Heck reaction is achieved with (S)‐DTBM‐SEGPHOS via a cationic palladium pathway, which has enabled an efficient asymmetric synthesis of (S)‐nicotine and its analogues.
A Greener Route to Blue: Solid‐State Synthesis of Phthalocyanines
Authors: Langerreiter Daniel , Kostiainen Mauri A. , Kaabel Sandra , Anaya‐Plaza Eduardo 
Published: July 2022

AbstractPhthalocyanines are important organic dyes with a broad applicability in optoelectronics, catalysis, sensing and nanomedicine. Currently, phthalocyanines are synthetized in high boiling organic solvents, like dimethylaminoethanol (DMAE), which is a flammable, corrosive, and bioactive substance, miscible with water and harmful to the environment. Here we show a new solid‐state approach for the high‐yielding synthesis of phthalocyanines, which reduces up to 100‐fold the amount of DMAE. Through systematic screening of solid‐state reaction parameters, carried out by ball‐milling and aging, we reveal the influence of key variables—temperature, presence of a template, and the amount and role of DMAE in the conversion of tBu phthalonitrile to tetra‐tBu phthalocyanine. These results set the foundations to synthesize these high‐performance dyes through a greener approach, opening the field of solid‐state synthesis to a wider family of phthalocyanines.
Three‐dimensional bioprinting of tragacanth/hydroxyapaptite modified alginate bioinks for bone tissue engineering with tunable printability and bioactivity
Authors: Khoshnood Negin , Shahrezaee Mohammad Hossein , Shahrezaee Mostafa , Zamanian Ali 
Published: July 2022

AbstractThree‐dimensional (3D) bioprinting of composite scaffolds using biodegradable natural polymers are very promising approach for bone tissue engineering. In this research, we hypothesized that the use of tragacanth gum with alginate could improve the printability and rheological properties of alginate. We showed that the blending of 1 wt% tragacanth with the 3 wt% alginate‐based bioink significantly improved the compressive strength, viscosity and printability properties, resolution, and shape fidelity of alginate bioink. In addition, the presence of tragacanth decreased the rate of degradation in alginate scaffold within 21 days. On the other hand, hydroxyapatite (HA) could support alginate as an osteoconductive component in alginate‐tragacanth composite scaffolds. HA was in situ incorporated into an alginate‐tragacanth bioink. ALP activity, calcium deposition and BMP‐2 and osteocalcin genes expression showed an increase over time indicating differentiation of MC3T3 cells into osteoblasts in the presence of HA particles than that in the alginate‐tragacanth group. In addition, the expression of CD105, CD44, and CD90, as specific surface markers, were significantly increased in differentiated osteoblasts. The in vitro results demonstrated that HA particles dispersed in the alginate‐tragacanth matrix could promote osteogenic differentiation of MC3T3 cells in a 3D‐bioprinted construct and this scaffold material could be considered to repair large bone tissue defects.
Synthesis of poly(hydroxyethyl methacrylate)‐b‐poly(propylene glycol)‐b‐poly(hydroxyethyl methacrylate)reactive block copolymer with controlled reactivity for toughening multifunctional epoxy resin
Authors: Zhu Hong , Tang Bing , Lv Yadong , Huang Yajiang , Yang Qi , Li Guangxian , Kong Miqiu 
Published: July 2022

AbstractMultifunctional epoxy resins are inherently brittle due to the extremely high cross‐linking density, thus the enhancement in the toughness is rather important for the industrial application. In this work, a reactive poly(hydroxyethyl methacrylate)‐b‐poly(propylene glycol)‐b‐poly(hydroxyethyl methacrylate) (PHEMA‐PPG‐PHEMA) is synthesized by using an atom transfer radical polymerization to toughen trifunctional diglycidyl 4,5‐epoxy cyclohexane‐1,2‐dicarboxylate (TDE‐85). A controllable system is constructed, in which the reaction temperature of TDE‐85 with the hydroxyl of PHEMA‐PPG‐PHEMA is lower than with the curing agent. As a result, both heterogeneous and homogeneous structures can be formed in composites through controlling reaction temperature. It is found that the toughness of composites with the heterogeneous structure is effectively improved without sacrificing the tensile strength, tensile modulus, and glass transition temperature. Specifically, the mode‐1 critical stress intensity factor and critical strain energy release rate of TDE‐85/10 wt% PHEMA‐PPG‐PHEMA are increased to 0.77 MPam1/2 and 146 J/m2, respectively, which are effectively enhanced by 32.8% and 70.3%. This can be ascribed to combined toughening effects from the cavitation of the PHEMA‐PPG‐PHEMA phase, the matrix shear yielding, and the enhanced interface bonding strength due to the reaction between TDE‐85 and PHEMA‐PPG‐PHEMA. Thus, this study paves a novel strategy to improve the toughness of epoxy resin by controlling the curing reaction.
Luminescence properties of MgCaAl10O17:RE3+ (RE3+ = Sm3+,Dy3+) phosphor for eco‐friendly solid‐state lighting applications
Authors: Yerpude Atul N. , Parshuramkar Dalesh M. , Pawade Vijay B. , Kokode Namdeo S. , Dhoble Sanjay J. 
Published: July 2022

AbstractDifferent concentrations of rare earth Sm3+‐ and Dy3+‐activated MgCaAl10O17 phosphors were synthesized using the combustion route and their detailed luminescence investigations are reported in this paper. The photoluminescence excitation spectra of Sm3+‐ and Dy3+‐activated MgCaAl10O17 phosphor show multiple peaks in the ultraviolet light region of the electromagnetic spectrum. The characteristic emission spectra of the MgCaAl10O17:Sm3+ phosphor are located at 563 nm, 594 nm, and 644 nm, with the maximum emission intensity occurring at 594 nm. The emission spectra of the MgCaAl10O17:Dy3+ phosphor show two emission peaks, one at 476 nm wavelength in the blue light region and the other at 573 nm wavelength in the yellow region. The above results suggest that the prepared phosphor can be suitable for applications in eco‐friendly solid‐state lighting.
Quantitation of the ataxia‐telangiectasia‐mutated and Rad3‐related inhibitor elimusertib (BAY‐1895344) in human plasma using LC–MS/MS
Authors: Kiesel Brian F. , Parise Robert A. , Krishnamurthy Anuradha , Gore Steven , Beumer Jan H. 
Published: July 2022

AbstractAtaxia‐telangiectasia‐mutated and Rad3‐related (ATR) is master regulator of the DNA‐damage response that, through multiple mechanisms, can promote cancer cell survival in response to replication stress from sources, including chemotherapy and radiation. Elimusertib (BAY‐1895344) is an orally available small‐molecule ATR inhibitor currently in preclinical and clinical development for cancer treatment. To support these studies and define elimusertib pharmacokinetics, we developed a HPLC–MS method for its quantitation. A 50‐μL volume of plasma was subjected to acetonitrile protein precipitation and then chromatographic separation using a Phenomenex Polar‐RP column (2 × 50 mm, 4 μm) and a gradient mobile phase consisting of 0.1% formic acid in acetonitrile and water during a 7‐min run time. Mass spectrometric detection was achieved using a SCIEX 4000 triple‐stage mass spectrometer with electrospray positive‐mode ionization. With a stable isotopic internal standard, the assay was linear from 30 to 5000 ng/mL and proved to be both accurate (93.5–108.2%) and precise (<6.3% coefficient of variation) fulfilling criteria from the Food and Drug Administration guidance on bioanalytical method validation. This LC–MS/MS assay will support several ongoing clinical studies by defining elimusertib pharmacokinetics.
Tissue‐engineered tendon nano‐constructs for repair of chronic rotator cuff tears in large animal models
Authors: Gwon Yonghyun , Kim Woochan , Park Sunho , Kim Yang‐Kyung , Kim Hyoseong , Kim Myung‐Sun , Kim Jangho 
Published: July 2022

AbstractChronic rotator cuff tears (RCTs) are one of the most common injuries of shoulder pain. Despite the recent advances in surgical techniques and improved clinical outcomes of arthroscopically repaired rotator cuffs (RCs), complete functional recovery—without retear—of the RC tendon through tendon‐to‐bone interface (TBI) regeneration remains a key clinical goal to be achieved. Inspired by the highly organized nanostructured extracellular matrix in RC tendon tissue, we propose herein a tissue‐engineered tendon nano‐construct (TNC) for RC tendon regeneration. When compared with two currently used strategies (i.e., transosseous sutures and stem cell injections), our nano‐construct facilitated more significant healing of all parts of the TBI (i.e., tendon, fibrocartilages, and bone) in both rabbit and pig RCT models owing to its enhancements in cell proliferation and differentiation, protein expression, and growth factor secretion. Overall, our findings demonstrate the high potential of this transplantable tendon nano‐construct for clinical repair of chronic RCTs.
Anatomical variations of the internal jugular vein in the context of central line placement: A visual approach to data processing
Authors: Iankovitch Anna , Ledley Johanna Shapiro , Almabrouk Tarek , Al‐Jaberi Nahidh , Coey James 
Published: July 2022

AbstractCentral line placement in the internal jugular vein (IJV) can result in complications. Previous studies that examined variations in geometric anatomical parameters in pediatric populations have reduced these risks in children. The aim of this study was to establish possible anatomical variations to improve central line placement in the adult population and demonstrate the use of a correlation heatmap in processing large amounts of data. Twenty‐seven volunteers were imaged using ultrasound at three different neck levels on right and left sides and various anatomical parameters were measured. Demographic information was also collected and included in the data processing. The Pearson coefficient was derived from each possible relationship between the measured parameters and was plotted in a correlation heatmap. Strong correlations were observed between the body mass index and the depth of the IJV and common carotid artery (CCA), the relative depth of the IJV to the CCA. No significant correlations were found in the dimensions of both vessels. Anatomical variations were more common than anticipated and should be taken into account when performing central line catheterization in order to minimize post‐procedure complications.
Does witnessing gender discrimination predict women's collective action intentions for gender justice? Examining the moderating role of perceived female support
Authors: Uluğ Özden Melis , Chayinska Maria , Tropp Linda R. 
Published: July 2022

AbstractPrevious research has indicated that witnessing gender discrimination may instigate women's participation in collective action for gender justice. However, relatively little is known about the role of perceived female support in motivating collective action among women who witness gender discrimination in public life. This study aims to analyse whether and when perceived support from feminist‐minded women moderates the association between women's witnessing gender discrimination and their willingness to engage in collective action for gender justice. We argue that the association between witnessing gender discrimination and willingness to engage in collective action depends on the support women perceive from their female friends and family members. In studies of women in the U.S. (Study 1; N = 271) and Ukraine (Study 2; N = 256), witnessing gender discrimination predicted greater willingness to participate in collective action for gender justice, and this association was stronger when female support was perceived to be lower. Study 3 (N = 1,304) replicated the findings of Studies 1 and 2 with self‐identified feminist women in Turkey. Our research offers novel insights regarding why perceived lack of female support may encourage women to engage in collective action for gender justice.
Photochemical and Molecular Dynamics Studies of Halide Binding in Flavoenzyme Glucose Oxidase
Authors: Zhuang Bo , Vos Marten H. , Aleksandrov Alexey 
Published: July 2022

AbstractGlucose oxidase (GOX), a characteristic flavoprotein oxidase with widespread industrial applications, binds fluoride (F−) and chloride (Cl−). We investigated binding properties of halide inhibitors of GOX through time‐resolved spectral characterization of flavin‐related photochemical processes and molecular dynamic simulations. Cl− and F− bind differently to the protein active site and have substantial but opposite effects on the population and decay of the flavin excited state. Cl− binds closer to the flavin, whose excited‐state decays in <100 fs due to anion‐π interactions. Such interactions appear absent in F− binding, which, however, significantly increases the active‐site rigidity leading to more homogeneous, picosecond fluorescence decay kinetics. These findings are discussed in relation to the mechanism of halide inhibition of GOX by occupying the accommodation site of catalytic intermediates and increasing the active‐site rigidity.
Replacing Commercial 6‐Phosphofructokinase in an Online Pyrophosphate Detection Assay
Authors: Machell Daniel L. , Hansen Mathias H. , Cryle Max J. 
Published: July 2022

AbstractDetection of pyrophosphate is important in quantifying enzyme activity, particularly adenylation domain activity during non‐ribosomal peptide synthesis. The previous development of an enzyme coupled PPi/NADH assay allowed the measurement of such activity in an online fashion using commercially available components. Now, with a key enzyme ‐ 6‐phosphofructokinase ‐ no longer available, we have screened and identified viable replacement enzymes that can be expressed in high yield and that are far superior in activity to the now discontinued commercial product. This will support the ability of groups to continue to use this established online assay for pyrophosphate detection.