bluuebunny/crossref_metadata_2025_split huggingface dataset:
Historical perspectives on gas hydrates and citation impact analysis
Authors: Linga Praveen 
Published: June 2022

AbstractGas hydrates, or clathrate hydrates, is a multidisciplinary field of research involving potential applications to the oil and gas industry, energy security, and innovative technological applications with literature referenced back to 1810. The field of gas hydrates or clathrate hydrates has progressed over the past several decades from academic curiosity‐driven research to industrially relevant research related to flow assurance and methane hydrates in nature as an energy resource. In the recent few decades, several innovative and sustainable applications have emerged with gas hydrate or clathrate hydrate as a technology enabler. In this work, I present a bibliometric analysis of the field of gas hydrates or clathrate hydrates for the period from 1901 to 2020 from the Web of Science core collection database of Clarivate Analytics. In total, 12 152 journal publications (review and original research articles) were analyzed from Web of Science core collection database spanning 121 years (1901–2020). Top countries, top cited review articles, and original research articles along with top source titles (journals) are identified and highlighted. In addition, the field classifications and citation rate trends have been analyzed and presented. Network visualization maps are presented for countries, sources, and organizations by analysing citations in VOSviewer. Co‐occurrence analysis is performed to identify the top keywords and their links through network visualization based on VOSviewer.
Precision medicine: Sustained response to erdafitinib in FGFR2‐mutant, multiply recurrent ameloblastoma
Authors: Lawson‐Michod Katherine A. , Le Christopher H. , Tranesh Ghassan , Thomas Penelope C. , Bauman Julie E. 
Published: June 2022

AbstractBackgroundAmeloblastoma imposes significant morbidity and high‐recurrence rates following surgery and radiation therapy. Although 89% of cases harbor oncogenic mutations, the role of targeted therapy is undefined.CaseWe describe a case of a 40‐year‐old male with multiply recurrent, locally invasive ameloblastoma of the posterior maxillary ridge. The tumor was unresectable for negative margins due to extensive intracranial disease, and the patient suffered severe symptoms including pain. Immune and genomic profiling were obtained to guide systemic treatment, showing a PD‐L1 score of 2% and FGFR2V395D and SMOW535L mutations. The patient progressed rapidly on anti‐PD1 immunotherapy. He was treated with the FGFR inhibitor, erdafitinib, with excellent partial response including resolution of intracranial disease and cancer‐related pain, ongoing 2 years after drug initiation.ConclusionTargeting the FGFR2 mutation resulted in sustained response and improved quality of life. Genomic profiling with targeted therapy for ameloblastoma appears promising, especially when surgery is technically infeasible.
Effects of Mexiletine and Lacosamide on Nerve Excitability in Healthy Subjects: A Randomized, Double‐Blind, Placebo‐Controlled, Crossover Study
Authors: Ruijs Titia Q. , Koopmans Ingrid W. , de Kam Marieke L. , van Esdonk Michiel J. , Koltzenburg Martin , Groeneveld Geert Jan , Heuberger Jules A.A.C. 
Published: June 2022

Selective voltage‐gated sodium channel blockers are of growing interest as treatment for pain. For drug development of such compounds, it would be critical to have a biomarker that can be used for proof‐of‐mechanism. We aimed to evaluate whether drug‐induced changes in sodium conductance can be detected in the peripheral nerve excitability profile in 18 healthy subjects. In a randomized, double‐blind, 3‐way crossover study, effects of single oral doses of 333 mg mexiletine and 300 mg lacosamide were compared with placebo. On each study visit, motor and sensory nerve excitability measurements of the median nerve were performed (predose; and 3 and 6 hours postdose) using Qtrac. Treatment effects were calculated using an analysis of covariance (ANCOVA) with baseline as covariate. Mexiletine and lacosamide had significant effects on multiple motor and sensory nerve excitability variables. Depolarizing threshold electrotonus (TEd40 (40–60 ms)) decreased by mexiletine (estimated difference (ED) −1.37% (95% confidence interval (CI): −2.20, −0.547; P = 0.002) and lacosamide (ED −1.27%, 95% CI: −2.10, −0.443; P = 0.004) in motor nerves. Moreover, mexiletine and lacosamide decreased superexcitability (less negative) in motor nerves (ED 1.74%, 95% CI: 0.615, 2.87; P = 0.004, and ED 1.47%, 95% CI: 0.341, 2.60; P = 0.013, respectively). Strength‐duration time constant decreased after lacosamide in motor‐ (ED −0.0342 ms, 95% CI: −0.0571, −0.0112; P = 0.005) and sensory nerves (ED −0.0778 ms, 95% CI: −0.116, −0.0399; P < 0.001). Mexiletine and lacosamide significantly decrease excitability of motor and sensory nerves, in line with their suggested mechanism of action. Results of this study indicate that nerve excitability threshold tracking can be an effective pharmacodynamic biomarker. The method could be a valuable tool in clinical drug development.
Tuning the Selectivity of the Hydrogenation/Hydrogenolysis of 5‐Hydroxymethylfurfural under Batch Multiphase and Continuous‐Flow Conditions
Authors: Rodríguez‐Padrón Daily , Perosa Alvise , Longo Lilia , Luque Rafael , Selva Maurizio 
Published: June 2022

AbstractThe hydrogenation/hydrogenolysis of 5‐hydroxymethylfurfural (HMF) has been carried out either under single (aqueous) phase or batch multiphase (MP) conditions using mutually immiscible aqueous/hydrocarbon phases, 5 % Ru/C as a catalyst, and both with and without the use of trioctylmethyl phosphonium bis‐(trifluoro methane) sulfonimide ([P8881][NTf2]) as an ionic liquid (IL). Alternatively, the hydrogenation of HMF was explored in the continuous‐flow (CF) mode with the same catalyst. By changing reaction parameters, experiments were optimized towards the formation of three products: 2,5‐bis(hydroxy methyl)furan (BHMF), 2,5‐bis(hydroxymethyl)tetrahydrofuran (BHMTHF), and 1‐hydroxyhexane‐2,5‐dione (HHD), which were obtained in up to 92, 90, and 99 % selectivity, respectively, at quantitative conversion. In particular, the single (aqueous) phase reaction of HMF (0.2 m) carried out for 18 h at 60 °C under 30 bar of H2, allowed the exclusive synthesis of BHMF from the partial (carbonyl) hydrogenation of HMF, while the MP reaction run at a higher T and p (100 °C and 50 bar) proved excellent to achieve only HHD derived from a sequence of hydrogenation/hydrogenolysis. It is worth noting that under MP conditions, the catalyst was perfectly segregated in the IL, where it could be recycled without any leaching in the aqueous/hydrocarbon phases. Finally, the hydrogenation of HMF was explored in a H‐Cube® flow reactor in the presence of different solvents, such as ethyl acetate, tetrahydrofuran, and ethanol. At 100 °C, 50 bar H2, and a flow rate of 0.1 mL min−1, the process was optimized towards the formation of the full hydrogenation product BHMTHF. Ethyl acetate proved the best solvent.
The difference between cystatin C‐ and creatinine‐based assessment of kidney function in acute heart failure
Authors: Pinsino Alberto , Fabbri Matteo , Braghieri Lorenzo , Bohn Bruno , Gaudig Antonia J. , Kim Andrea , Takeda Koji , Naka Yoshifumi , Sayer Gabriel T. , Uriel Nir , Demmer Ryan T. , Faillace Robert T. , Husain Syed A. , Mohan Sumit , Colombo Paolo C. , Yuzefpolskaya Melana 
Published: June 2022

AbstractAimsAcute heart failure (HF) is associated with muscle mass loss, potentially leading to overestimation of kidney function using serum creatinine‐based estimated glomerular filtration rate (eGFRsCr). Cystatin C‐based eGFR (eGFRCysC) is less muscle mass dependent. Changes in the difference between eGFRCysC and eGFRsCr may reflect muscle mass loss. We investigated the difference between eGFRCysC and eGFRsCr and its association with clinical outcomes in acute HF patients.Methods and resultsA post hoc analysis was performed in 841 patients enrolled in three trials: Diuretic Optimization Strategy Evaluation (DOSE), Renal Optimization Strategies Evaluation (ROSE), and Cardiorenal Rescue Study in Acute Decompensated Heart Failure (CARRESS‐HF). Intra‐individual differences between eGFRs (eGFRdiff) were calculated as eGFRCysC–eGFRsCr at serial time points during HF admission. We investigated associations of (i) change in eGFRdiff between baseline and day 3 or 4 with readmission‐free survival up to day 60; (ii) index hospitalization length of stay (LOS) and readmission with eGFRdiff at day 60. eGFRCysC reclassified 40% of samples to more advanced kidney dysfunction. Median eGFRdiff was −4 [−11 to 1.5] mL/min/1.73 m2 at baseline, became more negative during admission and remained significantly different at day 60. The change in eGFRdiff between baseline and day 3 or 4 was associated with readmission‐free survival (adjusted hazard ratio per standard deviation decrease in eGFRdiff: 1.14, P = 0.035). Longer index hospitalization LOS and readmission were associated with more negative eGFRdiff at day 60 (both P ≤ 0.026 in adjusted models).ConclusionsIn acute HF, a marked difference between eGFRCysC and eGFRsCr is present at baseline, becomes more pronounced during hospitalization, and is sustained at 60 day follow‐up. The change in eGFRdiff during HF admission and eGFRdiff at day 60 are associated with clinical outcomes.
Acid‐Stable Nucleobase Protection for a Strongly Pairing Pyridone C‐Nucleoside Suitable for Solid‐Phase Synthesis of Oligonucleotides
Authors: Eyberg Juri , Göhringer Daniela , Salihovic Amila , Richert Clemens 
Published: June 2022

AbstractOligonucleotides are indispensable tools in diagnostics, therapeutic applications and molecular biology. The low base pairing strength of thymine with adenine complicates their use. EthynylpyridoneC‐nucleosides are analogs of thymidine that pair more strongly and with improved base selectivity, and sequences containing these analogs show improved target affinity and selectivity, but their routine use is hampered by diminished yields of solid‐phase syntheses with the known building blocks. A partial loss of base protecting groups during the acidic deblocking step of chain extension cycles was identified as the cause of lower yields. Here we report the synthesis of an improved phosphoramidite building block featuring a pivaloyloxymethyl (POM) base protecting group. This building block gives oligonucleotides containing the strongly pairing ethynylmethylpyridoneC‐nucleoside in high yield and purity via solid‐phase synthesis.
RREB1::MRTFB fusion‐positive extra‐glossal mesenchymal neoplasms: A series of five cases expanding their anatomic distribution and highlighting significant morphological and phenotypic diversity
Authors: Agaimy Abbas , Din Nasir Ud , Dermawan Josephine K. , Haller Florian , Melzer Katja , Denz Axel , Baumhoer Daniel , Stoehr Robert , Grützmann Robert , Antonescu Cristina R. 
Published: June 2022

AbstractThe RREB1::MRTFB (former RREB1::MKL2) fusion characterizes ectomesenchymal chondromyxoid tumors (EMCMT) of the tongue. Only five molecularly confirmed extra‐glossal EMCMT cases have been reported recently; all occurring at head and neck or mediastinal sites. We herein describe five new cases including the first two extracranial/extrathoracic cases. The tumors occurred in three male and two female patients with an age ranging from 18 to 61 years (median, 28). Three tumors were located in the head and neck (jaw, parapharyngeal space, and nasopharyngeal wall) and two in the soft tissue (inguinal and presacral). The tumor size ranged from 3.3 to 20 cm (median, 7). Treatment was surgical without adjuvant treatment in all cases. Two cases were disease‐free at 5 and 17 months; other cases were lost to follow‐up. Histologically, the soft tissue cases shared a predominant fibromyxoid appearance, but with variable cytoarchitectural pattern (cellular perineurioma‐like whorls and storiform pattern in one case and large polygonal granular cells embedded within a chondromyxoid stroma in the other). Two tumors (inguinal and parapharyngeal) showed spindled to ovoid and round cells with a moderately to highly cellular nondescript pattern. One sinonasal tumor closely mimicked nasal chondromesenchymal hamartoma (NCMH). Mitotic activity was low (0–5 mitoses/10 hpfs). Immunohistochemical findings were heterogeneous with variable expression of S100 (2/5), EMA (2/3), CD34 (1/4), desmin (1/4), and GFAP (1/3). Targeted RNA sequencing revealed the same RREB1::MRTFB fusion in all cases, with exon 8 of RREB1 being fused to exon 11 of MRTFB. This study expands the topographic spectrum of RREB1::MRTFB fusion‐positive mesenchymal neoplasms, highlighting a significant morphological and phenotypic diversity. Overall, RREB1::MRTFB‐rearranged neoplasms seem to fall into two subcategories: tumors with lobulated, chondroid, or myxochondroid epithelioid morphology (Cases 2 and 3) and those with more undifferentiated hypercellular spindle cell phenotype (Cases 1, 4, and 5). Involvement of extracranial/extrathoracic sites and the NCMH‐like pattern are novel. The biology of these likely indolent or benign tumors remains to be verified in the future.
Green and efficient synthesis of pine sterol oleate catalyzed by SO3H‐functionalized ionic liquid
Authors: Shi Honggang , Li Shan , Liu Jialin , Wang Shushu , Xu Huajin , Hu Yi 
Published: June 2022

AbstractBackgroundPhytosterol esters can be used in the food industry because of their various physiological activities and better physical properties compared to free phytosterols. However, existing synthetic methods for phytosterol esters tend to have the problems of environment unfriendliness, excessive by‐products, and difficulty in product separation and purification. Therefore, it is crucial to develop a green and efficient synthetic process for phytosterol esters.ResultsThe catalytic properties of various SO3H‐functionalized ionic liquids for the synthesis of pine sterol oleate were investigated, and [BSO3HMIm]Ts showed the best catalytic effect and reaction selectivity. Under the optimized reaction conditions: using 7% of [BSO3HMIm]Ts (based on the mass of pine sterols) as the catalyst, the molar ratio of oleic acid to pine sterols 2:1, reaction at 140 °C for 2.5 h, the yield of pine sterol oleate could reach 93.9%, while only 4.2% of dehydrated sterols by‐products could be produced. Furthermore, the esterification yield could still reach 85.0% after the catalyst [BSO3HMIm]Ts was reused six times under the optimal conditions.ConclusionThis study demonstrates that SO3H‐functionalized ionic liquid [BSO3HMIm]Ts has higher catalytic activity and selectivity than many reported chemical catalysts in the synthesis of phytosterol esters. A green, efficient, and scalable procedure for the esterification of phytosterols with fatty acids in a solvent‐free system has been developed. © 2022 Society of Chemical Industry (SCI).
Dietary niche separation of three Late Pleistocene bear species from Vancouver Island, on the Pacific Northwest Coast of North America
Authors: Kubiak Cara , Grimes Vaughan , Van Biesen Geert , Keddie Grant , Buckley Mike , Macdonald Reba , Richards M. P. 
Published: June 2022

AbstractCompetition between taxa related to climate changes has been proposed as a possible factor in Pleistocene megafaunal extinctions, and here we present isotope evidence of the diets of three co‐existing bear species [black bear (Ursus americanus), brown bear (Ursus arctos), and the now extinct short‐faced bear (Arctodus simus)] from a locale in western North America dating to the Late (Terminal) Pleistocene (~14.5–11.7 ka). The three bear species were found at several sites on Vancouver Island, on the western coast of Canada. To examine the chronological overlap and niche partitioning between these species of bear, we used direct radiocarbon dating, stable isotope analysis and ZooMS proteomic identification methods. Here we present new radiocarbon evidence from Terminal Pleistocene U. americanus, U. arctos and A. simus from several sites on the island, along with both bulk collagen and compound‐specific isotope data for these species. Radiocarbon dates confirm the chronological overlap of Arctodus and both Ursus species in the montane regions of the island at the end of the Pleistocene. Stable isotope data reveal niche differentiation between these species, with U. americanus occupying a distinctly lower trophic position than the other two taxa.
Yield of array‐CGH analysis in Tunisian children with autism spectrum disorder
Authors: Chehbani Fethia , Tomaiuolo Pasquale , Picinelli Chiara , Baccarin Marco , Castronovo Paola , Scattoni Maria Luisa , Gaddour Naoufel , Persico Antonio M. 
Published: June 2022

AbstractBackgroundAutism spectrum disorder (ASD) is a neurodevelopmental disorder with strong genetic underpinnings. Microarray‐based comparative genomic hybridization (aCGH) technology has been proposed as a first‐level test in the genetic diagnosis of ASD and of neurodevelopmental disorders in general.MethodsWe performed aCGH on 98 Tunisian children (83 boys and 15 girls) diagnosed with ASD according to DSM‐IV criteria.Results“Pathogenic” or “likely pathogenic” copy number variants (CNVs) were detected in 11 (11.2%) patients, CNVs of “uncertain clinical significance” in 26 (26.5%), “likely benign” or “benign” CNVs were found in 37 (37.8%) and 24 (24.5%) patients, respectively. Gene set enrichment analysis involving genes spanning rare “pathogenic,” “likely pathogenic,” or “uncertain clinical significance” CNVs, as well as SFARI database “autism genes” in common CNVs, detected eight neuronal Gene Ontology classes among the top 10 most significant, including synapse, neuron differentiation, synaptic signaling, neurogenesis, and others. Similar results were obtained performing g: Profiler analysis. Neither transcriptional regulation nor immune pathways reached significance.ConclusionsaCGH confirms its sizable diagnostic yield in a novel sample of autistic children from North Africa. Recruitment of additional families is under way, to verify whether genetic contributions to ASD in the Tunisian population, differently from other ethnic groups, may involve primarily neuronal genes, more than transcriptional regulation and immune‐related pathways.
Novel compound heterozygous SUCLG1 variants may contribute to mitochondria DNA depletion syndrome‐9
Authors: Chen Yi‐ming , Chen Wei , Xu Yue , Lu Chao‐sheng , Zhu Mian‐mian , Sun Rong‐yue , Wang Yihong , Chen Yuan , Shi Jiaming , Wang Dan 
Published: June 2022

AbstractBackgroundSuccinate‐CoA ligase/synthetase (SCS) deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Variants in SUCLG1, the nuclear gene encoding the alpha subunit of the SCS enzyme playing a pivotal role in maintaining mtDNA integrity and stability, are associated with mitochondrial DNA depletion syndrome 9 (MTDPS9).MethodsIn this study, we reported an infant with clinical features of MTDPS9 from China. Whole exome sequencing (WES) was used to identify the genetic cause. Bioinformatic analysis and mtDNA level detection were performed to assess pathogenicity.ResultsThe proband manifested with hypotonia, lactic acidosis, mild methylmalonic aciduria, hearing loss and psychomotor retardation. WES identified new compound heterozygous SUCLG1 variants of c.601A>G (p.R201G) in exon 6 and c.871G>C (p.A291P) in exon 8. Computational analysis predicted that these missense variants might alter structure stability and mitochondrial translocation of SUCLG1. qRT‐PCR showed 68% depletion of mtDNA content in proband as compared to controls.ConclusionNovel compound heterozygous variants c.601A>G (p.R201G) and c.871G>C (p.A291P) in SUCLG1 may cause MTDPS9 in this family. Our finding should be helpful for molecular diagnosis, genetic counseling and clinical management of SCS deficiency disorders.
Follicular‐fluid proteomics during equine follicle development
Authors: Ishak Ghassan M. , Feugang Jean M. , Pechanova Olga , Pechan Tibor , Peterson Daniel G. , Willard Scott T. , Ryan Peter L. , Gastal Eduardo L. 
Published: June 2022

AbstractThe complex composition of the follicular fluid (FF), the intimate proximity to the oocyte, and the continual changes in their composition have a major effect on folliculogenesis and oogenesis. To date, the profiling of FF proteomes during follicle selection, development, and ovulation has not been comprehensively investigated. Therefore, a shotgun proteomics approach and bioinformatics analyses were used to profile the proteomes of equine FF harvested in vivo from follicles at the following development stages: predeviation (18–20 mm), deviation (22–25 mm), postdeviation (26–29 mm), preovulatory (30–35 mm), and impending ovulation. A total of 294 proteins were detected in FF (FDR <1%), corresponding to 65 common proteins and 124, 142, 167, 132, and 142 proteins in the predeviation, deviation, postdeviation, preovulatory, and impending ovulation groups, respectively. The higher expression of properdin and several other proteins belonging to the complement system during the deviation time and ovulation suggested their contribution in the selection of the future dominant follicle and ovulation. Apolipoprotein A‐1 and antithrombin‐III appeared to be important throughout folliculogenesis. The “complement and coagulation cascades” was the major KEGG pathway across all stages of follicle development. The significant expression of several proteins belonging to the serine‐type endopeptidase indicated their likely contribution to follicle and oocyte development. Our data provide an extensive description and functional analyses of the equine FF proteome during follicle selection, development, and ovulation. This information will help improve understanding of the ovarian function and ovulatory dysfunctions and might serve as a reference for future biomarker discovery for oocyte quality assessment.
Fiber optic Raman spectroscopy for the evaluation of disease state in Duchenne muscular dystrophy: An assessment using the mdx model and human muscle
Authors: Alix James J. P. , Plesia Maria , Hool Sarah A. , Coldicott Ian , Kendall Catherine A. , Shaw DBE Pamela J. , Mead Richard J. , Day John C. 
Published: June 2022

AbstractIntroduction/AimsRaman spectroscopy is an emerging technique for the evaluation of muscle disease. In this study we evaluate the ability of in vivo intramuscular Raman spectroscopy to detect the effects of voluntary running in the mdx model of Duchenne muscular dystrophy (DMD). We also compare mdx data with muscle spectra from human DMD patients.MethodsThirty 90‐day‐old mdx mice were randomly allocated to an exercised group (48‐hour access to a running wheel) and an unexercised group (n = 15 per group). In vivo Raman spectra were collected from both gastrocnemius muscles and histopathological assessment subsequently performed. Raman data were analyzed using principal component analysis–fed linear discriminant analysis (PCA‐LDA). Exercised and unexercised mdx muscle spectra were compared with human DMD samples using cosine similarity.ResultsExercised mice ran an average of 6.5 km over 48 hours, which induced a significant increase in muscle necrosis (P = .03). PCA‐LDA scores were significantly different between the exercised and unexercised groups (P < .0001) and correlated significantly with distance run (P = .01). Raman spectra from exercised mice more closely resembled human spectra than those from unexercised mice.DiscussionRaman spectroscopy provides a readout of the biochemical alterations in muscle in both the mdx mouse and human DMD muscle.