bluuebunny/crossref_metadata_2025_split huggingface dataset:
Ring Chromosome 17 Syndrome—A Case Report and Discussion of Diagnostic Methods
Authors: Kim Sun Young , Wohler Elizabeth , Gutierrez Maria Jimena , Sadreameli Christy , Kossoff Eric , Sobreira Nara Lygia 
Published: November 2024

ABSTRACTRing chromosome 17 and 17p13.3 deletion syndrome are phenotypically heterogeneous diseases with similar clinical features. The ring chromosome 17 phenotypic features range from the Miller–Dieker syndrome characterized by deletion of the PAFAH1B1 gene, lissencephaly, hypotonia, dysphagia, café au lait spots, and severe intellectual disability, to a milder phenotype characterized by microcephaly, seizures, delayed development, minor facial dysmorphic features, clinodactyly, short stature, café au lait spots, retinal flecking, and deletion of the YWHAE and CRK genes. Similarly, the phenotypic features of the 17p13.3 deletion syndrome range from the Miller–Dieker syndrome caused by loss of function of the PAFAH1B1 gene and characterized by lissencephaly, microcephaly, seizures, hypotonia, and severe intellectual disability to a milder phenotype characterized by nonspecific white matter changes, microcephaly, seizures, delayed development, short stature, and deletion of the YWHAE and CRK genes. Café au lait spots and retinal or axillary freckling have been noted in the ring chromosome 17 syndrome but not in 17p13.3 deletion syndrome. We report a 5‐year‐old girl with a history of intrauterine growth retardation, short stature, intractable epilepsy, expressive language disorder, clinodactyly, multiple café au lait spots, and retinal freckling who was initially diagnosed with 17p13.3 deletion syndrome involving YWHAE and CRK but not PAFAH1B1 on CGH array. However, cytogenetic analysis of G‐banded chromosomes revealed mosaic ring chromosome 17. Optical genome mapping simultaneously identified the 17p13.3 deletion and the mosaic ring chromosome 17. This case report highlights the limitations of the arrays and sequencing methods for identifying structural variants, the need to investigate further deletions and duplications identified by arrays, mainly considering atypical phenotypic features, and suggests that OGM could be used as a first‐tier test with exome sequencing for the diagnosis of patients with dysmorphic features, intellectual disability, and seizure disorder.
Evaluation of mucosal barrier disruption due to Staphylococcus lugdunensis and Staphylococcus epidermidis exoproteins in patients with chronic rhinosinusitis
Authors: Ramezanpour Mahnaz , Feizi Sholeh , Arachchige Hashan Dilendra Paththini , Bouras George , Cooksley Clare , Shaghayegh Gohar , Wormald Peter‐John , Psaltis Alkis James , Vreugde Sarah 
Published: November 2024

AbstractBackgroundChronic rhinosinusitis (CRS) is a persistent inflammatory condition of the sinus mucosa. While Staphylococcus aureus has been shown to play a significant role in mucosal barrier disruption in CRS patients, coagulase‐negative staphylococci (CoNS) such as Staphylococcus epidermidis and Staphylococcus lugdunensis are also implicated in CRS pathophysiology. This study investigates the effects of exoproteins secreted by planktonic and biofilm forms of clinical isolates of S. epidermidis and S. lugdunensis on the nasal epithelial barrier.MethodsThirty‐one clinical isolates of CoNS were grown in planktonic and biofilm forms, and their exoproteins were concentrated. The epithelial barrier structure was assessed by measuring transepithelial electrical resistance (TEER) and the permeability of fluorescein isothiocyanate‐dextran. Toxicity and inflammatory response were also studied.ResultsOur findings demonstrate that exoproteins from all planktonic forms of S. lugdunensis disrupted the mucosal barrier, whereas only nine of 16 biofilm‐derived exoproteins had similar effects. Conversely, 11 of 15 exoproteins from planktonic S. epidermidis significantly disrupted barrier integrity; however, biofilm exoproteins did not. The study also showed that some exoproteins from planktonic S. epidermidis significantly reduced cell viability, while exoproteins from planktonic and biofilm forms of S. lugdunensis and biofilm S. epidermidis did not induce any statistically significant change in cell viability. Notably, four of 16 biofilm exoproteins from S. lugdunensis induced higher interleukin‐6 (IL‐6) secretion, whereas none of the S. epidermidis isolates showed a significant increase in IL‐6 secretion.ConclusionOur results suggest that CoNS exoproteins may contribute to CRS etiopathogenesis.
Pharmacodynamic effects of semorinemab on plasma and CSF biomarkers of Alzheimer's disease pathophysiology
Authors: Schauer Stephen P. , Toth Balazs , Lee Julie , Honigberg Lee A. , Ramakrishnan Vidya , Jiang Jenny , Kollmorgen Gwendlyn , Bayfield Anna , Wild Norbert , Hoffman Jennifer , Ceniceros Ryan , Dolton Michael , Bohórquez Sandra M. Sanabria , Hoogenraad Casper C. , Wildsmith Kristin R. , Teng Edmond , Monteiro Cecilia , Anania Veronica , Yeh Felix L. 
Published: November 2024

AbstractINTRODUCTIONSemorinemab, an anti‐tau monoclonal antibody, was assessed in two Phase II trials for Alzheimer's disease (AD). Plasma and cerebrospinal fluid (CSF) biomarkers provided insights into the drug's potential mechanism of action.METHODSQualified assays were used to measure biomarkers of tau, amyloidosis, glial activity, neuroinflammation, synaptic function, and neurodegeneration from participant samples in Tauriel (NCT03289143) and Lauriet (NCT03828747) Phase II trials.RESULTSPlasma phosphorylated Tau 181 (pTau181) and CSF chitinase‐3‐like protein 1 (YKL‐40) increased following semorinemab treatment in both studies. In Lauriet, increasing plasma glial fibrillary protein (GFAP) concentrations stabilized with semorinemab, while this was not observed in Tauriel. Other AD pathophysiology biomarkers showed no consistent response to semorinemab.DISCUSSIONIncreases in CSF YKL‐40 suggest that semorinemab may stimulate microglia activation in the presence of AD‐associated Tau pathology, but not in healthy controls. Stabilization of plasma GFAP in Lauriet indicates a possible impact on reactive gliosis in mild‐to‐moderate AD.Trial Registration: Tauriel ClinicalTrials.gov Identifier: NCT03289143. Lauriet ClinicalTrials.gov Identifier: NCT03828747. Phase 1 ClinicalTrials.gov Identifier: NCT02820896.Highlights
AD pathophysiology biomarkers were measured to assess the mechanism of action.
Semorinemab increased CSF YKL‐40 in participants with AD but not in healthy controls.
Semorinemab possibly stabilized plasma GFAP in the Lauriet trial.
Semorinemab treatment may activate microglia and moderate reactive gliosis.
Antioxidative Therapy of Alcoholic Liver Injury by Amorphous Two‐Dimensional Cobalt Hydroxide Nanocatalyst
Authors: Jiang Di , Yang Bowen , Shi Jianlin 
Published: November 2024

AbstractThe intake of excessive ethanol will activate an alternative ethanol metabolic pathway in the liver, resulting in the overproduction of reactive oxygen species (ROS), which further leads to alcoholic liver injury (ALI). Although several molecular antioxidants have been utilized in clinics for treating ALI, their efficacies are still less satisfactory. In this work, a nanocatalytic antioxidation therapeutic strategy is proposed for ALI treatment by constructing amorphous Co(OH)2 nanosheets with catalytic antioxidative property. The bis(μ‐hydroxo)CoIICoII dinuclear active sites of Co(OH)2 nanosheets are capable of coordinating with hydrogen peroxide (H2O2) with significantly reduced thermodynamic barrier to form a dihydroxyl adduct bis(μ‐hydroxo)CoIII(OH)CoIII(OH) favorable for catalytic H2O2 disproportionation, while amorphous and ultrathin structure further facilitates the reaction, resulting in a high catalytic efficiency (Km=59.31 mM). Thanks to the inherent hepatic passive targeting ability of nanomaterials, the antioxidative nanosheets can accumulate in liver region efficiently after intravenous administration (35.5 % ID/g accumulation efficiency), enabling efficient catalytic antioxidation in the liver to mitigate hepatic oxidative stress, protect hepatocytes from apoptosis/ferroptosis. This study provides a new methodology of nanocatalytic antioxidation for treating ALI and other hepatic diseases related to oxidative stress.
Enantiokonvergente Negishi‐Kreuzkupplungen von Racemischen Sekundären Organozink‐Reagenzien zur Herstellung Privilegierter Gerüste: Eine Kombinierte Experimentelle und Theoretische Studie
Authors: Preinfalk Alexander , Oost Rik , Menger Maximilian F. S. J. , Simaan Marwan , Lemouzy Sébastien , Senoner Samuel , Shaaban Saad , Maryasin Boris , González Leticia , Maulide Nuno 
Published: November 2024

AbstractEine enantiokonvergente, palladiumkatalysierte Negishi‐Kreuzkupplung mit racemischen sekundären Organozink‐Reagenzien wurde entwickelt, die den Zugang zu enantioangereicherten 1,1‐Diarylalkan‐Motiven in hohen Ausbeuten und Enantioselektivitäten ermöglicht. Berechnungsdaten deuten darauf hin, dass die Racemisierung von Organozink‐Verbindungen höchstwahrscheinlich durch einen gebrückten bimolekularen Mechanismus erfolgt.
Glycopolymer‐Mediated Selective Separation of Middle Rare Earth Elements
Authors: Jeon Sungjin , Odom Tyler L. , Williams Cole A. , Callmann Cassandra E. 
Published: November 2024

AbstractThe selective separation of rare earth elements (REEs) remains a formidable challenge due to limitations of current methodologies, which struggle to achieve the separation efficiency required for their critical industrial applications. Middle REEs (MREEs), characterized by their intermediate ionic radii, are particularly challenging to separate without size‐specific trapping mechanisms. In this study, we report a novel approach that synergistically combines heavy metal sequestration with size‐selective separation, utilizing negatively charged glycopolymers to achieve the targeted separation of MREEs. We systematically investigated the binding affinities of these glycopolymers for various REEs, focusing on the selective isolation of MREEs through a controlled variation of glycopolymer properties, including degree of polymerization (DP) and charge density. Our findings reveal a distinctive U‐shaped selectivity profile, with a marked preference for Samarium (Sm) and Europium (Eu) over other REEs such as Cerium (Ce), Gadolinium (Gd), and Holmium (Ho). This selectivity underscores the potential for designing tailored separation processes optimized for specific MREEs. Moreover, enrichment experiments demonstrated the practical viability of our methodology, achieving over 10 % selectivity for Sm in a Ce/Sm mixture with a 10 : 1 Ce/Sm ratio, a trend that held for Sm in a Ho/Sm Mixture with a 10 : 1 Ho/Sm ratio, indicating significant selectivity over both light and heavy REEs. A subsequent separation experiment using a 1 : 1 Ce/Sm mixture yielded a 15 % enrichment after only five passes through a filter containing minimal amounts of glycopolymer, highlighting the promise of further refinement for enhanced separation efficiency.
A De Novo Auto‐Activated Solar‐Driven Biohybrid System for Hydrogen Production in Methanotrophic Cells
Authors: Jiao Ziyue , Li Guoping , Guo Shuqi , Wang Weiting , Hou Qianzi , Li Yawen , Ma Wenqiang , He Gang , Fei Qiang 
Published: November 2024

AbstractClimate change driving by greenhouse gas emissions from petroleum‐based energy has garnered significant attention. Renewable energy production via a sustainable system that integrates the cell factory and visible‐light‐driven photocatalysts offers a novel approach for upcycling methane and addressing global energy challenges. Here, an auto‐activated biohybrid system driven by solar energy is developed for converting methane into hydrogen fuel, which incorporated thienoviologen (S‐MV2+) and genetically engineered methanotrophic bacteria. In this system, S‐MV2+ functioned as photosensitizer and electron mediator, capturing solar energy and supplying electrons for an enzyme‐catalyzed bioprocess. The genetically modified Methylomicrobium buryatense 5GB1 mutant, lacking methanol dehydrogenase but overexpressing hydrogenase, is able to convert methane into methanol that maintains the electron flow cycle by quenching photogenerated holes for both hydrogen biosynthesis and methane oxidation. Finally, the highest H2 production of 272.96 μM from this biohybrid system was achieved with methanol as a sacrificial agent generated by the H2‐producing mutant, resulting in a 140‐fold enhancement. This innovative method showcases the potential of coupling photocatalysis with methanotrophic biocatalysis for sustainable energy production. Additionally, the system introduces a new strategy for self‐regeneration of sacrificial agents, offering a promising avenue for hydrogen production using greenhouse gases in an eco‐friendly manner.
Combination of Ambient and High‐Temperature Beryllium Nitride Motifs in W2Be4N5 and W4Be8N9
Authors: Krach Georg , Werhahn Dominik , Witthaut Kristian , Johrendt Dirk , Schnick Wolfgang 
Published: November 2024

AbstractCompounds of transition metals and beryllium have a wide range of applications, from everyday tools to high tech applications. Remarkably, no single ternary beryllium nitride with a transition metal is known. Here, we report on the synthesis and properties of the first transition metal nitridoberyllates, namely W2Be4N5 and W4Be8N9. Both compounds were synthesized in a high‐temperature high‐pressure approach from Be3N2 and W, using azide generated N2 as an oxidizing agent. The crystal structures, consisting of alternating layers of WN6 trigonal prisms and BeN4 tetrahedra, were elucidated by single‐crystal X‐ray diffraction (sc‐XRD). The separating nitridoberyllate layers show either ambient temperature (α‐Be3N2 type) or high temperature (β‐Be3N2 type) motifs. W2Be4N5 was further corroborated by infrared (IR), nuclear magnetic resonance (NMR) and UV/Vis spectroscopy and vibrating sample magnetometry (VSM) measurements. The latter revealed a mixed valence with an intermediate oxidation state of 3.5 for the W atoms. Both, the synthesis of the first transition metal nitridoberyllates and the synthesis approach using elemental W pave the way to a new field of nitride chemistry.
Revisiting the Baddeley Reaction: Access to Functionalized Decalins by Charge‐Promoted Alkane Functionalization
Authors: Vavrík Miloš , Grant Phillip S. , Kaiser Daniel , Gruene Tim , Maulide Nuno 
Published: November 2024

AbstractC−H functionalization of purely aliphatic substrates is a challenging endeavor, as the absence of directing groups generally thwarts attempts at regiocontrol. This is particularly true for difunctionalization reactions, where the control of relative stereochemistry poses an additional obstacle. The Baddeley reaction of decalins, despite suffering from strong limitations with regard to yield and generality, stands as one of only few known transformations capable of regio‐ and stereocontrol in aliphatic C−H functionalization. Herein, we report a regio‐ and diastereoselective method for the double functionalization of decalins enabling access to a novel, unreported regioisomer in synthetically useful yields. This method was also successfully applied to a range of other alkane substrates, enabling a straightforward synthesis of keto alcohols from the simplest alkane building blocks.
Nanocellulose‐reinforced, anti‐freezing, highly conductive ionic organic hydrogels for flexible electronic devices
Authors: Meng Lingling , Liu Da , Li Weihao , Ding Shijie , Liu En 
Published: November 2024

AbstractCurrently, flexible electronic devices based on ionic conductive hydrogels are receiving widespread attention in the field of human health detection. In this paper, a facile one‐pot method is proposed for the preparation of ionic organic hydrogels, in which polyvinyl alcohol (PVA), cellulose nanofiber (CNF), and graphene oxide (GO) are dissolved in dimethyl sulfoxide‐water (DMSO/H2O), and the organic hydrogel is obtained by a freezing–thawing process. The ionic organic hydrogel with excellent properties is then prepared by soaking the hydrogel in a calcium chloride (CaCl2) solution using a salting‐out strategy. The ionic organic hydrogel possesses good tensile (283%) and strength (0.3 MPa), super electrical conductivity (7.72 S/m), and high strain sensitivity [gauge factor (GF) up to 5.22]. Meanwhile, it has excellent anti‐freezing and moisturizing properties. In addition, the ionic organic hydrogels can be used in flexible strain sensors and triboelectric nanogenerators to realize real‐time monitoring of human motion, traceless writing, and energy conversion. It is foreseen that the prepared ionic organic hydrogels provide a feasible method for realizing the long‐term use of wearable electronic devices in extreme environments and daily life.
Synthesis of Acenaphthene Fused Dithiaporphyrin(3.1.1.1)s and N‐Fused Triphyrin(3.1.1)s in One‐Pot Condensation
Authors: Grover Vratta , Tiwari Shubham , Ravikanth Mangalampalli 
Published: November 2024

AbstractTwo different types of novel nonaromatic acenaphthene fused macrocycles such as acenaphthene fused dithiaporphyrin(3.1.1.1)s and acenaphthene fused N‐fused triphyrin(3.1.1)s were synthesized in one pot condensation reaction using 5,6‐dibromoacenaphthene as a key precursor. The X‐ray analysis revealed the oval core‐shaped structure for dithiaporphyrin(3.1.1.1)s and intramolecular ring fusion in N‐Fused triphyrin(3.1.1)s. The NMR, absorption and DFT studies suggested the non‐aromatic nature of both macrocycles which absorb strongly in visible‐NIR region. Both macrocycles were stable under electrochemical conditions and showed their electron‐rich nature.
Porous Materials for the Heterogeneously Catalyzed Synthesis of High Value‐Added Products: Latest Trends and Future Prospects
Authors: Sanoja‐López Kelvin Adrian , Luque Rafael 
Published: November 2024

AbstractHeterogeneous catalysis currently stands as a foundational area in materials synthesis and applied chemistry. In this context, emphasizing the significance of heterogeneous catalysis in expediting chemical reactions and controlling the formation of desired products using porous materials represents an intriguing approach in the current technological landscape. This work delves into the synthesis and design of a variety of porous materials, encompassing microporous, mesoporous and macroporous materials (e. g. carbonaceous materials, metal oxides, MOFs, zeolites and functionalized analogues), alongside their properties and characteristics pivotal in heterogeneous catalysis. among others, and their subsequent modification, underscoring the significance of tailoring porous materials for specific catalytic applications.
Wildfire aerosols and their impact on weather: A case study of the August 2021 fires in Greece using the WRF‐Chem model
Authors: Rovithakis Anastasios , Voulgarakis Apostolos 
Published: November 2024

AbstractWildfires are significant contributors to atmospheric gases and aerosols, impacting air quality and composition. This pollution from fires also affects radiative forcing, influencing short‐term weather patterns and climate dynamics. Our research employs the Weather Research and Forecasting model coupled with Chemistry (WRF‐Chem) to investigate the repercussions of wildfires on aerosol abundances and associated immediate weather responses. We examine the summer season of 2021, a period marked by severe wildfire events in the country during a heatwave period. We conducted sensitivity experiments including and excluding wildfire emissions to measure their effects on aerosol optical depth (AOD), radiative forcing, and weather features such as temperature, humidity, clouds, and atmospheric circulation. Our findings demonstrate that the radiative impacts of wildfires negatively influence the local temperature over the fire smoke plume‐affected areas. Conversely, neighbouring areas of continental Greece experience increases in temperature due to remote effects of wildfire emissions, caused by meteorological feedbacks that reduce atmospheric humidity. Crucially, including fire emissions significantly improves the simulated surface temperatures predicted by the model over the Greek domain. Our work demonstrates that wildfire‐generated aerosols can significantly impact weather conditions and highlights the importance of including both local radiative effects and remote feedback for achieving more accurate weather prediction.
Incorporating Agile Methodologies Into the Chemical Engineering Curriculum
Authors: Chakraborty Sourojeet , Galatro Daniela 
Published: November 2024

ABSTRACTAgile methodologies, when applied within an engineering education context, can provide a strategic and insightful framework that can incorporate key pedagogical techniques to maximize the student learning experience. In this work, we present a revamp of an undergraduate chemical engineering data‐based modelling course by implementing two agile methodologies: XP‐pair programming and Sprint. The selected agile methodologies are implemented in tutorials and the final exam while developing and/or completing system identification codes in R as a computational tool. Student feedback is obtained via surveys to track the effectiveness of our implemented methodologies; students provided both general and subject‐specific feedback. Our unique approach promises to pave the way for novel course design and curriculum revamp and to enhance active and experiential learning experiences among students by merging education pedagogy with engineering practices in the industry. Student responses reveal that agile methodologies substantially improved their coding, modelling, teamwork and time management skills. We also observed that our agile‐based approach works to inspire and motivate students to (i) further their own knowledge of the subject matter, (ii) appreciate the importance of data‐based modelling in both industrial and academic environments and (iii) critically identify the fallacies and real‐life consequences of poor/inefficient modelling and prediction practices. Our initiative holds the potential to successfully implement well‐known industry best practices within a university chemical engineering curriculum. Our selected agile methodologies also facilitate active and experiential and enquiry‐based learning environments, leading to students recognizing the importance of ‘how’ to learn rather than ‘what’ to learn.