bluuebunny/crossref_metadata_2025_split huggingface dataset:
Phenotypic heterogeneity in 22q11.2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort
Authors: Zamariolli M. , Dantas A. G. , Nunes N. , Moysés‐Oliveira M. , Sgardioli I. C. , Soares D. C. Q. , Gil‐Da‐Silva‐Lopes V. L. , Kim C. A. , Melaragno M. I. 
Published: February 2023

AbstractThe clinical heterogeneity in 22q11.2 deletion syndrome (22q11.2DS) underlies complex genetic mechanisms including variants in other regions of the genome, known as genetic modifiers. Congenital heart disease (CHD) is one of the most relevant phenotypes in the syndrome and copy number variants (CNVs) outside the 22q11.2 region could play a role in its variable expressivity. Since those described loci account for a small proportion of the variability, the CNV analysis in new cohorts from different ancestry‐based populations constitutes a valuable resource to identify a wider range of modifiers. We performed SNP‐array in 117 Brazilian patients with 22q11.2DS, with and without CHD, and leveraged genome‐wide CNV analysis. After quality control, we selected 50 CNVs in 38 patients for downstream analysis. CNVs' genetic content and implicated biological pathways were compared between patients with and without CHD. CNV‐affected genes in patients with CHD were enriched for several functional terms related to ubiquitination, transcription factor binding sites and miRNA targets, highlighting the complexity of the phenotype's expressivity. Cardiac‐related genes were identified in both groups of patients suggesting that increasing risk and protective mechanisms could be involved. These genes and enriched pathways could indicate new modifiers to the cardiac phenotype in 22q11.2DS patients.
A Fourfold Gold(I)−Aryl Macrocycle with Hyperbolic Geometry and its Reductive Elimination to a Carbon Nanoring Host
Authors: Grabicki Niklas , Fisher Sergey , Dumele Oliver 
Published: February 2023

AbstractAn ethylene glycol‐decorated [6]cyclo‐meta‐phenylene (CMP) macrocycle was synthesized and utilized as a subunit to construct a fourfold AuI2−aryl metallacycle with an overall square arrangement. The corners consist of rigid dinuclear gold(I) complexes previously known to form only triangular metallacycles. The interplay between the conformational flexibility of the [6]CMP macrocycle and the rigid dinuclear gold(I) moieties enable the square geometry, as revealed by single‐crystal X‐ray diffraction. The formation of the gold complex shows size‐selectivity compared to an alternative route using platinum(II) corner motifs. Upon reductive elimination, an all‐organic ether‐decorated carbon nanoring was obtained. Investigation as a host for the complexation of large guest molecules with a suitable convex π‐surfaces was accomplished using isothermal NMR binding titrations. Association constants for [6]cycloparaphenylene ([6]CPP), [7]CPP, C60, and C70 were determined.
Effect of compatibilizers on polyethylene‐eucalyptus lignin blends
Authors: Vachon Jérôme , Assad‐Alkhateb Derar , de Araujo Hsia Laura , Lora Jairo H. , Baumberger Stéphanie 
Published: February 2023

AbstractEucalyptus Kraft lignin was blended in various proportions with two different types of polyethylene (PE) (low‐density polyethylene and post‐consumer recycled [PCR]), with or without compatibilizer (PE‐glycidyl methacrylate [GMA] or PE‐2‐hydroxyethyl methyl acrylate copolymers). Materials prepared by injection molding or extrusion casting were characterized for their thermal, antioxidant, antibacterial and mechanical properties. In addition, the photo‐permeability was assessed, as this property is specifically relevant to mulching applications. The use of compatibilizers enhanced the antioxidant properties which reached more than 3 h oxidation induction time when lignin was present at 20 wt% and beyond. Good antibacterial properties were obtained on Gram‐positive bacteria when using PE‐GMA as compatibilizer. The photo‐permeability of the materials was also reduced, reaching a transmittance lower than 5% throughout the whole measurement range (200–800 nm) in PCR. However, higher lignin contents led to a more brittle material and the overall processability of the material became more difficult, features that were not improved by compatibilizers. These materials are promising candidates for mulching film application, especially with PCR which still lacks high‐volume market applications.
Degradation of biobased poly(ethylene 2,5‐furandicarboxylate) and polyglycolide acid blends under lipase conditions
Authors: Han Weiqiang , Liao Xia 
Published: February 2023

AbstractBio‐based polymer materials are considered to have function of protecting the environment, and improving the degradation performance of bio‐based polymer materials is of great significance to realize the green cycle of production‐use‐degradation of plastic products. This present work is focused on the investigation of the degradation behavior of bio‐based polymer blend poly(ethylene 2,5‐furandicarboxylate) /polyglycolide acid (PEF/PGA) with different composition ratios in phosphate‐buffered saline (PBS solution, pH = 7.4) with 0.5 mg/mL of lipase from porcine pancreas. The results observed that the thermal decomposition temperatures at 5% weight loss of both the PEF/PGA blends are higher than 310°C, which reflected that the PEF/PGA blends possessed excellent thermal stability. The water absorption of the PEF/PGA blends continued to increase with increasing the PGA content. This trend is consistent with the mass loss of blends in the degradation process. The systematic degradation study revealed that the neat PEF showed no mass loss in both PBS solution with and without lipase, while the PEF/PGA blends possessed a faster rate under enzymatic degradation circumstance in the first 4 weeks, and the weight loss in the same degradation period increase with increasing the PGA content due to the erosion of lipase on the polymer chain. In particular, the weight loss of PEFGA40 blend was more than 18.33% after 8 weeks of degradation in enzyme solution. 1H NMR results showed that in addition to PGA component as a major component of degradation, a small amount of PEF component was also involved in the mass loss of the blend during degradation. At the same time, the short‐chain segment produced during the degradation had a clear plasticizing effect on the PEFGA blends, which is reflected in that the Tg of PEFGA40 blend decreased first and then increased with the increase of degradation time.
Body mass estimates from postcranial skeletons and implication for positional behavior in Nacholapithecus kerioi: Evolutionary scenarios of modern apes
Authors: Kikuchi Yasuhiro 
Published: February 2023

AbstractThis study reported the body mass (BM) estimates of the Middle Miocene fossil hominoid Nacholapithecus kerioi from Africa. The average BM estimates from all forelimb and hindlimb skeletal elements was 22.7 kg, which is slightly higher than the previously reported estimate of ~22 kg. This study revealed that Nacholapithecus has a unique body proportion with an enlarged forelimb relative to a smaller hindlimb, suggesting an antipronograde posture/locomotion, which may be related to the long clavicle, robust ribs, and some hominoid‐like vertebral morphology. Because the BM of Nacholapithecus in this study was estimated to be below 30 kg, Nacholapithecus probably did not have relatively shorter and robust femora, which may result from other mechanical constraints, as seen in extant African hominoids. The BM estimate of Nacholapithecus suggests that full substantial modifications of the trunk and forelimb anatomy for risk avoidance and foraging efficiency, as seen in extant great apes, would not be expected in Nacholapithecus. Because larger monkeys are less arboreal (e.g., Mandrillus sphinx or Papio spp.), and the maximum BM among extant constant arboreal cercopithecoids is ~24 kg (male Nasalis larvatus), Nacholapithecus would be a constant arboreal primate. Although caution should be applied because of targeting only males in this study, arboreal quadrupedalism with upright posture and occasional antipronograde locomotion (e.g., climbing, chambering, descending, arm‐swing, and sway) using the powerful grasping capacity of the hand and foot may be assumed for positional behavior of Nacholapithecus.
From Textile Coloring to Light‐emitting Electrochemical Devices: Upcycling of the Isoviolanthrone Vat Dye
Authors: Ghanem Tatiana , Leong Kwang Keat , Jang Hwandong , Hardouin Alexis , Blanchard Philippe , Lungerich Dominik , Josse Pierre , Kim Eunkyoung , Cabanetos Clément 
Published: February 2023

AbstractProduced at ton scale, vat dyes are major environmental pollutants generated by the textile industry. However, they represent ideal and accessible candidates for chemical upcycling since they are usually composed of large π‐conjugated scaffolds. Based on the valorization of “old” products, waste or even contaminant into high‐added value goods, this concept can be easily transposed to the laboratories. As a contribution to the current environmental and ecological transition, we demonstrate herein the valorization/upcycling of wastewaters generated during the dyeing procedure. To do so, the reduced (leuco) form of vat violet 10, also known as isoviolanthrone, was functionalized to afford a readily soluble derivative that was subsequently and successfully used as active material in operating solution processed light‐emitting electrochemical cells, that is, from textile dyeing to high‐tech application.
Chloroacetonitrile reduces rat prenatal bone length and induces oxidative stress, apoptosis, and DNA damage in rat fetal liver
Authors: Abd‐Allah Entsar R. , Fouad Nourhan Y. , Ghareeb Abd El Wahab El , Eldebss Taha M. A. 
Published: February 2023

AbstractOne of the disinfection byproducts of chlorinating drinking water is chloroacetonitrile (CAN). Thirty‐six female rats were used and distributed equally into four groups. The low dose treated group received CAN at a dose of 5.5 mg/kg body weight/day (1/40 LD50) orally from the 6th to 12th day of gestation. The high dose treated group received 11 mg/kg body weight/day (1/20 LD50) of CAN orally for the same period, the vehicle control group received 1 mL of corn oil, and the water control group received 1 mL of distilled water orally for the same period. High dose exposure to CAN significantly reduced gravid uterine weight, fetal body weights, and length, and caused obvious skeletal deformities, weak mineralization. Fetal tibial growth plates displayed histopathologic changes. Induced oxidative stress and redox imbalance in fetal liver tissues was evidenced by significantly decreased in catalase and superoxide dismutase activity, and elevated malondialdehyde levels. Histopathological, glycogen content changes, and DNA damage were observed in the fetal liver of high dose treated group. Additionally, administration of high dose of CAN induced apoptosis, evidenced by increased caspase‐3 concentration in fetal liver. Thus, extensive exposure to CAN induces poor pregnancy outcomes. CAN levels in water should be monitored regularly.
Experimental and computational characterization of mass transfer in high turndown bioreactors
Authors: Schlaich Evan M. , Thomas John A. , Kandari Lakshmi , Tremml Gabi , Khetan Anurag 
Published: February 2023

AbstractSingle‐use bioreactors (SUBs, or disposable bioreactors) are extensively used for the clinical and commercial production of biologics. Despite widespread application, minimal results have been reported utilizing the turndown ratio; an operation mode where the working range of the bioreactor can be expanded to include low fluid volumes. In this work, a systematic investigation into free surface mass transfer and cell growth in high turndown single‐use bioreactors is presented. This approach, which combines experimental mass transfer measurements with numerical simulation, deconvolutes the combined effects of headspace mixing and the free surface convective mass transfer on cell growth. Under optimized conditions, mass transfer across the interface alone may be sufficient to satisfy oxygen demands of the cell culture. Within the context of high turndown bioreactors, this finding provides a counterpoint to traditional sparge‐based bioreactor operational philosophy. Multiple monoclonal antibody‐producing cell lines grown using this high turndown approach showed similar viable cell densities to those cells expanded using a traditional cell bag rocker. Furthermore, cells taken directly from the turndown expansion and placed into production showed identical growth characteristics to traditionally expanded cultures. Taken together, these results suggest that the Xcellerex SUB can be run at a 5:1 working volume as a seed to itself, with no need for system modifications, potentially simplifying preculture operations.
Body composition parameters were associated with response to abiraterone acetate and prognosis in patients with metastatic castration‐resistant prostate cancer
Authors: Ke Zhi‐Bin , You Qi , Xue Yu‐Ting , Sun Jiang‐Bo , Chen Jia‐Yin , Liu Wen‐Qi , Wei Yong , Zheng Qing‐Shui , Li Xiao‐Dong , Xue Xue‐Yi , Xu Ning 
Published: February 2023

AbstractObjectiveTo investigate the predictive value of body composition parameters for biochemical response to abiraterone acetate (AA) in metastatic castration‐resistant prostate cancer (mCRPC) patients with prior chemohormonal therapy.MethodsWe retrospectively evaluated the clinicopathologic information of 132 mCRPC cases receiving AA treatment after chemohormonal therapy at hormone‐sensitive stage from July 2018 to June 2021. All patients were divided into AA responders and non‐responders according to the biochemical response to AA (prostate‐specific antigen (PSA) reduction ≥50% than pretreatment). Multivariate Logistic analysis was used to determine the independent predictors and develop predictive model of biochemical response to AA. Cox regression analysis was utilized to investigate the prognostic factors for time to biochemical progression (TTBP), radiological progression‐free survival (rPFS), failure‐free survival (FFS), and overall survival (OS) after AA treatment.ResultsThere were 57 AA responders and 75 AA non‐responders. Periprostatic fat area/prostate area (PPFA/PA) was decreased and skeletal muscle index (SMI) was increased in AA responders compared with AA non‐responders. Multivariable logistic analysis demonstrated that ADT duration ≥12 months, bone metastasis only, high SMI and low PPFA/PA were independent predictors of biochemical response to AA treatment. The FFS, TTBP, rPFS, and OS of patients with lower SMI or higher PPFA/PA was decreased compared with that of patients with higher SMI or lower PPFA/PA, respectively. Combining SMI, PPFA/PA, ADT duration and metastatic sites performed well in differentiating AA responders from non‐responders.ConclusionsHigh SMI and low PPFA/PA could predict biochemical response to AA treatment and preferable prognosis in mCRPC patients with prior chemohormonal therapy at hormone‐sensitive stage.
Maintaining tooth‐implant distance following root amputation of a compromised adjacent tooth: A clinical case report
Authors: Lander Bradley , Rascon Allison , Sourvanos Dennis , Fiorellini Joseph , Neiva Rodrigo 
Published: February 2023

AbstractBackgroundEdentulous sites with limited horizontal tooth‐implant distance pose a challenge to clinicians. This case report describes root amputation of an adjacent compromised molar to maintain an optimal tooth‐implant distanceMethods and ResultsA 41‐year‐old female was referred for extraction and implant placement to replace her left, maxillary second premolar (#13), which had been diagnosed with a vertical root fracture. Extraction and ridge preservation of #13 was completed without complication. The 4‐month postsurgical clinical examination revealed a narrow mesial‐distal distance (5.69 mm) of the edentulous space (#13), which was influenced by the degree of divergence of the mesial buccal root of tooth #14. Cone‐beam computed tomography (CBCT) analysis verified a periapical lesion on the mesial‐buccal root of tooth #14. The amputation of the endodontically compromised mesial‐buccal root of #14 was treatment planned to provide space and facilitate placement of a standard diameter implant without compromising the implant or adjacent teeth. Crestal bone levels were verified and maintained at the 1 year postoperative follow‐up.ConclusionThe findings of the case report demonstrate how root amputation of a compromised molar is an alternative solution for managing spatial limitations in contemporary implant dentistry. More studies are required to assess the reliability and long‐term success of this approach.Key pointsWhy is this case new information?

There is insufficient evidence on the long‐term efficacy of narrow‐diameter implants. Clinical treatment guidelines are not sufficiently available.
This paper presents an alternative approach to managing a specific scenario where mesial‐distance distance is limited using root amputation of an adjacent compromised tooth.
What are the keys to successful management of this case?

Comprehensive diagnosis and stringent case selection
Multidisciplinary treatment planning
Evidence‐based decision making
What are the primary limitations to success in this case?

Very specific clinical application; adjacent compromised tooth
Long‐term follow up is required
Comparison between Chemoenzymatic and Bienzymatic Cascades Leading to Morita–Baylis–Hillman Adducts
Authors: Li Yinuo , Bao Cuiyu , Sun Zhoutong , Zhang Wuyuan , Yuan Bo 
Published: February 2023

AbstractChemoenzymatic and bienzymatic cascades offer advantages including increasing diversity of reactions and saving time and operational costs. Herein the oxidation of benzylic alcohols to the corresponding aldehydes coupled with the Morita−Baylis−Hillman (MBH) reactions in biocatalytic compatible potentially ‘green’ conditions has been exemplarily evaluated. One‐pot cascades avoiding the use of reactive aldehyde intermediates are described and compared, including a sequential chemoenzymatic cascade with a variant of galactose oxidase (GOase M3–5) and 1,4‐Diazabicyclo [2.2.2] octane (DABCO), a concurrent dual‐enzyme cascade with GOase M3–5 and a variant of the computationally designed enzyme MBHase (BH32.14), and finally a whole cell biotransformation with the co‐expression modules of the two enzymes. All of the cascades were performed on a diverse range of substrates (12–19 examples), affording moderate to high conversions (up to 93 %) and isolated yields (up to 80 %). The bienzymatic cascades offer optically active products in up to 91 % ee. Key factors affecting the chemoenzymatic and the bienzymatic cascades were highlighted, and the advantages and challenges were compared.
A Selective Excited‐State Intramolecular‐Proton‐Transfer (ESIPT) Sensor for Copper(II) Based on Chelation‐Enhanced Quenching and “Off‐On” Detection of Amino Acids
Authors: Devasia Jyothis , Joy Francis , Nizam Aatika 
Published: February 2023

AbstractWe report the synthesis of 2‐(4,5‐diphenyl‐1H‐imidazole‐2‐yl)phenol (TPI‐9) as an interesting fluorescent molecule displaying Excited‐State Intramolecular‐Proton‐Transfer (ESIPT) with stokes shift of 120 nm. Phenolic compounds with the ability to form intramolecular hydrogen bonds and subsequent proton transfer are known as ESIPT fluorophores. Proton accepting ability can increase significantly by tailoring electron‐donating groups. With the assistance of an environment‐friendly organocatalyst, 10‐camphor sulfonic acid (10‐CSA), TPI‐9 was synthesized to introduce substituents with electron‐donating abilities to develop an efficient ESIPT mechanism. Factors influencing the emission, such as solvent, pH, and metal ions, are investigated. Quenching of fluorescence by Cu2+ through chelation enhancement quenching effect with a high selectivity allowed the establishment of a Cu2+ sensor with an LoD of 0.57 ppm and a ratiometric estimation with an LoD of 0.73 ppm. Metal binding (2 : 1) stoichiometry and quenching constant (0.0072 mol−1s−1) are calculated from Job's and Stern‐Volmer plots. Density functional theory (DFT) calculations are in accordance with the experimental results. Competitive replacement of TPI‐9 by amino acids restores ESIPT, consequently, the fluorescence. Thus, an “off‐on” fluorescence sensor for amino acid estimation is developed under 1 minute incubation. A linear relationship between amino acid concentration and fluorescence intensity is in 0‐20 μg/mL range, and the LoD is less than 2.2 μg/mL.
Enrichment of high‐purity nervonic acid ethyl ester from Acer truncatumBunge seed oil by combination method of urea inclusion and molecular distillation
Authors: Wang Jie , Zheng Shuai , Gao Yingxi , Shi Jiayi , Zhou Zhiyong , Ren Zhongqi 
Published: February 2023

AbstractAcer truncatum Bunge is a type of maple that is unique to China. Its fruit setting rate and seed oil content are both high. The oil is mainly composed of C16–C24 fatty acids and contains 5%–7% nervonic acid (NA). NA and its derivatives can delay ageing and prevent and treat disorders such as senile dementia and Alzheimer's disease. The content of NA ethyl ester prepared by the seed oil of A. truncatum Bunge is 5.84%. We report a new process for the enrichment of NA ethyl ester by urea inclusion (UI) and molecular distillation (MD), with the aim of obtaining highly pure NA ethyl ester. First, based on the difference in fatty acid ethyl ester saturation and carbon chain length, unwanted compounds such as oleic acid ethyl ester, linoleic acid ethyl ester, and sterol were removed by one‐stage UI, the content of NA ethyl ester was increased to 18.69%. The oil in the UI compound was used as a feed, and differences in the mean molecular free paths between the components were exploited to separate the C16–C20 fatty acid ethyl esters (FAEEs) by two‐stage MD. The total content of C16–C20 FAEEs decreased to 3.69% and the purity of NA ethyl ester increased to 47.47%. A new purification process of UI‐MD‐UI was established and NA ethyl ester could be purified to 91.8%. The combination of MD and UI has an important reference value for the industrialization of producing high‐purity NA ethyl ester.
Discovery of Highly Potent CRBN Ligands and Insight into Their Binding Mode through Molecular Docking and Molecular Dynamics Simulations
Authors: Yan Jian , Zheng Zhibing 
Published: February 2023

AbstractCereblon (CRBN) is a substrate receptor of E3 ubiquitin ligase as well as the target of thalidomide and lenalidomide, plays a vital role in endogenous protein degradation. In this article, two series of compounds with novel structure were designed, synthesized and evaluated against CRBN. YJ1b, designed based on our previous finding, shown strong binding affinity toward CRBN (IC50=0.206 μM) by forming a salt bridge interaction with amino acid residue Glu377 of CRBN, it was 13‐fold compared with that of lenalidomide (IC50=2.694 μM) in TR‐FRET assay. YJ2c and YJ2h, two analogs of YJ1b, also exhibit high binding affinity toward CRBN (IC50=0.211 μM and IC50=0.282 μM, respectively). While, molecular docking and 100 ns molecular dynamic simulation studies were conducted to insight into the unique binding mode of YJ1b, YJ2c and YJ2e toward CRBN. The new compounds with special binding mode in this article may serve for the further optimization and discovery of novel high potent CRBN ligands.