bluuebunny/crossref_metadata_2025_split huggingface dataset:
Domain‐specific phenotypes in LINS1‐related disorder—A Chinese family with the Q92X variant and literature review
Authors: Li Xu‐Ying , Wang Zhanjun , Yang Yanping , Lin Ruichai , Wang Chaodong 
Published: April 2024

AbstractLINS1 is the human homolog of the Drosophila segment polarity gene that encodes an essential regulator of the wingless/Wnt signaling. By 2011, only seven pedigrees (16 patients) with eight causative variants in LINS1 gene have been reported. These cases mainly presented with infancy‐/child‐onset neurodevelopmental disorders, facial dysmorphia, and other clinical features, and a wide spectrum of clinically distinct phenotypes were also manifested. In our study, two brothers in a family were admitted and diagnosed with child‐onset movement disorders, slight intellectual disability, psychological symptoms, eye problems, urinary and bowel dysfunction, mitral value prolapse, and Q‐T prolongation. By exome sequencing, we identified a nonsense homozygous pathogenic variant (LINS1: c.274C > T (p.Q92X)), which had been reported in a case diagnosed with intellectual disability and psychiatric disorders (such as schizophrenia and anxiety). Compared with this case, the clinical features of our cases were distinct. In particular, our cases displayed unusual features of heart and blood system. Furthermore, the genotype–phenotype relationship analysis suggested that distinct phenotypes presented in cases carrying variants in different domains of the LINS1 gene. In conclusions, our findings suggest the high clinical variations in the LINS1 variants‐related disorders. Moreover, the Q92X might be a recurrent variant in Hans of Southern China.
Minimal clinically important difference in Alzheimer's disease: Rapid review
Authors: Muir Ryan T. , Hill Michael D. , Black Sandra E. , Smith Eric E. 
Published: April 2024

AbstractINTRODUCTIONWe conducted a rapid systematic review of minimal clinically important differences (MCIDs) for Alzheimer's disease (AD) trial endpoints.METHODSTwo reviewers searched EMBASE, MEDLINE, and PubMed from inception to June 4, 2023.RESULTSTen articles were retrieved. For mild cognitive impairment (MCI), a change of +2 to +3 points on the Alzheimer's Disease Assessment Scale–Cognitive Subscale (ADAS‐Cog), +1 points on the Clinical Dementia Rating scale sum of boxes (CDR‐SB), −5 points on the integrated Alzheimer's Disease Rating Scale (iADRS), or −1 to −2 points on the Mini‐Mental State Examination (MMSE) was considered meaningful. For patients with mild AD, a change of +3 on the ADAS‐Cog, +2 points on CDR‐SB, −9 points on the iADRS, or −2 points on the MMSE was considered meaningful. For patients with moderate to severe AD, a change of +2 points on the CDR‐SB or a change of −1.4 to −3 points on the MMSE was considered meaningful.CONCLUSIONThis review identified previously published MCIDs for AD trial endpoints. Input from patients and caregivers will be needed to derive more meaningful endpoints and thresholds.Highlights
This systematic rapid review identified thresholds for minimal clinically important differences (MCIDs) for recently used Alzheimer's disease (AD) trial endpoints: Alzheimer's Disease Assessment Scale–Cognitive Subscale (ADAS‐Cog), Clinical Dementia Rating scale sum of boxes (CDR‐SB), integrated Alzheimer's Disease Rating Scale (iADRS), Mini‐Mental State Examination (MMSE).
MCIDs were higher for more severe stages of AD.
Average treatment effects in recent trials of anti‐amyloid disease modifying monoclonal antibodies are lower than previously published MCIDs.
In future trials of disease modifying treatments for AD, the proportion of participants in each treatment group that experienced a clinically meaningful decline could be reported.
More work is needed to incorporate the values and preferences of patients and care partners in deriving MCIDs.
The Importance of Sintering‐Induced Grain Boundaries in Copper Catalysis to Improve Carbon‐Carbon Coupling
Authors: Wu Wenlong , Luo Lei , Li Zhongling , Luo Jiahua , Zhao Jiankang , Wang Menglin , Ma Xinlong , Hu Sunpei , Chen Yue , Chen Weiye , Wang Zhandong , Ma Chao , Li Hongliang , Zeng Jie 
Published: April 2024

AbstractSyngas conversion serves as a gas‐to‐liquid technology to produce liquid fuels and valuable chemicals from coal, natural gas, or biomass. During syngas conversion, sintering is known to deactivate the catalyst owing to the loss of active surface area. However, the growth of nanoparticles might induce the formation of new active sites such as grain boundaries (GBs) which perform differently from the original nanoparticles. Herein, we reported a unique Cu‐based catalyst, Cu nanoparticles with in situ generated GBs confined in zeolite Y (denoted as activated Cu/Y), which exhibited a high selectivity for C5+ hydrocarbons (65.3 C%) during syngas conversion. Such high selectivity for long‐chain products distinguished activated Cu/Y from typical copper‐based catalysts which mainly catalyze methanol synthesis. This unique performance was attributed to the GBs, while the zeolite assisted the stabilization through spatial confinement. Specifically, the GBs enabled H‐assisted dissociation of CO and subsequent hydrogenation into CHx*. CHx* species not only serve as the initiator but also directly polymerize on Cu GBs, known as the carbide mechanism. Meanwhile, the synergy of GBs and their vicinal low‐index facets led to the CO insertion where non‐dissociative adsorbed CO on low‐index facets migrated to GBs and inserted into the metal‐alkyl bond for the chain growth.
Building Bulk and Interface Dual Fast Li+ Conducting Pathway in Composite Solid Polymer Electrolyte Membrane for All–Solid–State Lithium–Metal Batteries
Authors: He Yuanyuan , Tang Jiawen , Huang Xiao , Ao Xin , Tian Bingbing 
Published: April 2024

AbstractSolid polymer electrolytes (SPEs) are considered a promising solution to the safety problems of lithium‐ion batteries (LIBs) using liquid electrolytes. However, the high crystallinity and low ionic conductivity hinder the practical application of SPEs. Herein, we design a composite solid polymer electrolyte with a dual fast Li+ conducting pathway in bulk and interface by incorporating highly Li+ conductive ceramic Li6.4Ga0.2La3Zr2O12 (LGLZO) in polyethylene oxide (PEO)/Li–bis (trifluoromethanesulfonyl) imide (LiTFSI) system. Compared to Li6.5La3Zr1.5Ta0.5O12 (LLZTO), LGLZO provides better Li+ conductivity; therefore, a fast Li+ conducting pathway will form in the bulk of LGLZO nanofillers. Besides, LGLZO nanofiller accelerates the dissociation of LiTFSI and benefits the transfer of free Li+ through the SPEs near the LGLZO surface, forming another interface fast Li+ conducting pathway in the SPEs. Benefits from the dual fast Li+ pathway design, the composite electrolyte membrane with 15 wt % LGLZO nanoparticles presents a high ionic conductivity of 8.0×10−4 S cm−1 at 60 °C. The Li−Li symmetric cells with optimized content LGLZO show good cycling stability (no short circuit even after 1000 h), and the all–solid Li/LiFePO4 batteries exhibit excellent cycling performance (remained 154 mAh g−1 after 500 cycles at 0.2 C under 60 °C).
Competitive strategy and circular economy practice implementation toward corporate sustainability performance
Authors: Osei Vivian , Bai Chunguang , Asante‐Darko Disraeli , Kwarteng Amoako 
Published: April 2024

AbstractThe impact of competitive strategy on corporate sustainability and the role of circular economy (CE) practices remains scanty in the extant literature. This study therefore examines the mediating role of CE practices on the relationship between competitive strategy and sustainability performance. Drawing on the natural resource‐based view (NRBV) theory and institutional logics (IL) theory, this study explores a framework that introduces competitive strategy as an antecedent variable in advancing CE practices and sustainability performance among firms in a developing economy. Using data obtained through a survey of 380 firms in Ghana, the results revealed that competitive strategy has a positive and statistically significant relationship with corporate sustainability performance. Additionally, CE practices mediate the positive association between competitive strategy and corporate sustainability. Our research extends the frontiers of the literature by combining the IL and NRBV theories to explain how competitive strategy influences sustainability performance via CE practices.
Business model innovation through the design of circular product‐service system value propositions: A method proposal
Authors: da Costa Fernandes Sânia , Rozenfeld Henrique 
Published: April 2024

AbstractCircular economy requires rethinking the foundations of business strategy and innovating the business model to incorporate sustainability‐driven capabilities. Value propositions rooted in product‐service system (PSS) holds promise for leading manufacturing companies to circularity. However, an integrated and practical approach crafting circular and service‐based value propositions (herein called as circular PSS) is currently lacking. This study presents a novel method that integrates the domains of circular economy and PSS to enhance the effectiveness of designing circular PSS value propositions in a BMI context. The research methodology is based on three main phases unfolded in empirical research studies, systematic analysis of process models, and expert evaluations. This study consolidates the guiding principles and requirements for effective design of circular PSS value propositions. The pivotal result is a method providing a common and integrated approach to guide how to design value propositions that simultaneously integrate circular strategies and PSS features.
Daurisoline inhibits proliferation, induces apoptosis, and enhances TRAIL sensitivity of breast cancer cells by upregulating DR5
Authors: Liu Xin , Wang Lin‐lin , Duan Cun‐yu , Rong Yan‐ru , Liang Ya‐qi , Zhu Qing‐xiang , Hao Gang‐ping , Wang Feng‐ze 
Published: April 2024

AbstractDaurisoline (DS) is an isoquinoline alkaloid that exerts anticancer activities in various cancer cells. However, the underlying mechanisms through which DS affects the survival of breast cancer cells remain poorly understood. Therefore, the present study was undertaken to investigate the potential anticancer effect of DS on breast cancer cells and reveal the mechanism underlying the enhanced tumor necrosis factor‐related apoptosis‐inducing ligand (TRAIL)‐mediated apoptosis by DS. Cell counting kit‐8 (CCK‐8) and 5‐ethynyl‐2‐deoxyuridine (EdU) assay were used to evaluate the ability of cell proliferation. Flow cytometry was selected to examine the cell cycle distribution. TUNEL assay was used to detect the cell apoptosis. The protein expression was measured by Western blot analysis. DS was found to reduce the cell viability and suppress the proliferation of MCF‐7 and MDA‐MB‐231 cells by causing G1 phase cell cycle arrest. DS could trigger apoptosis by promoting the cleavage of caspase‐8 and PARP. The phosphorylation of ERK, JNK, and p38MAPK was upregulated clearly following DS treatment. Notably, SP600125 (JNK inhibitor) pretreatment significantly abrogated DS‐induced PARP cleavage. DS inactivated Akt/mTOR and Wnt/β‐catenin signaling pathway and upregulated the expression of ER stress‐related proteins. Additionally, DS amplified TRAIL‐caused viability reduction and apoptosis in breast cancer cells. Mechanismly, DS upregulated the protein level of DR4 and DR5, and knockdown of DR5 attenuated the cotreatment‐induced cleavage of PARP. Inhibition of JNK could block DS‐induced upregulation of DR5. This study provides valuable insights into the mechanisms of DS inhibiting cell proliferation, triggering apoptosis, and enhancing TRAIL sensitivity of breast cancer cells.
Extent of cardiac damage and hospitalization burden in patients undergoing transcatheter aortic valve replacement
Authors: Bække Pernille Steen , Gran Laurits Lykkeskov , Jørgensen Troels Højsgaard , Ghattas Angie , Fosbøl Emil , Sondergaard Lars , De Backer Ole 
Published: April 2024

AbstractBackgroundCardiac damage has gained increasing attention as a valid prognostic marker of mortality after transcatheter aortic valve replacement (TAVR). However, studies investigating the possible association between cardiac damage and hospitalization burden in TAVR patients are lacking.AimsThis study aimed to investigate the impact of baseline cardiac damage on the hospitalization burden before, during, and after TAVR in an all‐comers population.MethodsAll consecutive patients who underwent TAVR between 2016 and 2020 were included. Electronic medical records of all patients were examined to validate cardiovascular (CV) and heart failure (HF) related hospitalizations from 6 months before to 1 year after TAVR. Baseline cardiac damage was defined according to the staging classification by Généreux et al.ResultsAmong 1397 TAVR patients, 94 (6.7%) had stage 0, 368 (26.4%) stage 1, 736 (52.7%) stage 2, 115 (8.2%) stage 3, and 84 (6.0%) stage 4 cardiac damage. Patients with more advanced cardiac damage at baseline had more HF hospitalizations within 6 months before TAVR (p < 0.01) and with a longer length of stay (LoS) (p < 0.01). Regarding the index TAVR admission, there was no difference in procedure time (p = 0.26) or LoS (p = 0.18) between groups. Still, TAVR patients with more advanced baseline cardiac damage had a higher risk of CV and HF rehospitalization after TAVR (p < 0.05).ConclusionsBaseline cardiac damage in patients undergoing TAVR has an impact on the pre‐ and post‐procedural cardiovascular hospitalization burden. However, the cardiac damage status does not affect the TAVR procedure time or index TAVR admission length of stay.
A life lost to anorexia nervosa: A case report of rapid progressive disease and its psychological aspects
Authors: Esmaeili Amirreza , Esmaeeli Soode Tajik 
Published: April 2024

Key Clinical MessageThe prevalence of anorexia nervosa has been on the rise. Exploring key factors in treating this condition as well as psychological factors influencing the onset and maintenance of the disorder can increase the chance of treatment success.
Cobalt‐Catalyzed Wacker‐Type Aerobic Oxidation of Olefins into Ketones Enabled by PMHS: Giving Value to a Chemical Waste with Optimal Atom‐Economy
Authors: Abuhafez Naba , Gramage‐Doria Rafael 
Published: April 2024

AbstractHerein, it is demonstrated that a chemical waste from the silicon industry, namely polymethylhydrosiloxane (PMHS), is a suitable hydrosilane source for the challenging, selective aerobic oxidation of olefins into methyl ketones under cobalt catalysis: a first row, abundant in the Earth's crust and cheap metal with low toxicity. The catalytic system operates under unprecedented, stoichiometric amounts of hydrosilane while the cobalt catalyst loading is kept at a very low 1 mol% with the reactions being finished in less than 1 hour with very high turnover numbers (1,340) and record‐breaking turnover frequency values up to 530 h−1. Mechanistic studies highlight the key role of the porphyrin ligand for stabilizing the active cobalt species that does follow a radical‐based reaction pathway under these particular conditions. These results are relevant for replacing the expensive and scarce palladium catalyst, traditionally used for Wacker‐type oxidations, by first‐row, Earth‐abundant transition metals under green conditions including the efficient valorization of a chemical waste such as PMHS.
Enabling built‐in electric fields on rhenium‐vacancy‐rich heterojunction interfaces of transition‐metal dichalcogenides for pH‐universal efficient hydrogen and electric energy generation
Authors: Wang Benzhi , Wang Lixia , Lee Ji Hoon , Isimjan Tayirjan Taylor , Jeong Hyung Mo , Yang Xiulin 
Published: April 2024

AbstractMost advanced hydrogen evolution reaction (HER) catalysts show high activity under alkaline conditions. However, the performance deteriorates at a natural and acidic pH, which is often problematic in practical applications. Herein, a rhenium (Re) sulfide–transition‐metal dichalcogenide heterojunction catalyst with Re‐rich vacancies (NiS2‐ReS2‐V) has been constructed. The optimized catalyst shows extraordinary electrocatalytic HER performance over a wide range of pH, with ultralow overpotentials of 42, 85, and 122 mV under alkaline, acidic, and neutral conditions, respectively. Moreover, the two‐electrode system with NiS2‐ReS2‐V1 as the cathode provides a voltage of 1.73 V at 500 mA cm−2, superior to industrial systems. Besides, the open‐circuit voltage of a single Zn–H2O cell with NiS2‐ReS2‐V1 as the cathode can reach an impressive 90.9% of the theoretical value, with a maximum power density of up to 31.6 mW cm−2. Moreover, it shows remarkable stability, with sustained discharge for approximately 120 h at 10 mA cm−2, significantly outperforming commercial Pt/C catalysts under the same conditions in all aspects. A series of systematic characterizations and theoretical calculations demonstrate that Re vacancies on the heterojunction interface would generate a stronger built‐in electric field, which profoundly affects surface charge distribution and subsequently enhances HER performance.
Photo‐promoted rapid reconstruction induced alterations in active site of Ag@amorphous NiFe hydroxides for enhanced oxygen evolution reaction
Authors: Cai Zhi , Xu Mingyuan , Li Yanhong , Zhou Xinyan , Yin Kexin , Li Lidong , Jia Binbin , Guo Lin , Zhao Hewei 
Published: April 2024

AbstractThe dynamic surface self‐reconstruction behavior in local structure correlates with oxygen evolution reaction (OER) performance, which has become an effective strategy for constructing the catalytic active phase. However, it remains a challenge to understand the mechanisms of reconstruction and to accomplish it fast and deeply. Here, we reported a photo‐promoted rapid reconstruction (PRR) process on Ag nanoparticle‐loaded amorphous Ni‐Fe hydroxide nanosheets on carbon cloth for enhanced OER. The photogenerated holes generated by Ag in conjunction with the anodic potential contributed to a thorough reconstruction of the amorphous substrate. The valence state of unsaturated coordinated Fe atoms, which serve as active sites, is significantly increased, while the corresponding crystalline substrate shows little change. The different structural evolutions of amorphous and crystalline substrates during reconstruction lead to diverse pathways of OER. This PRR utilizing loaded noble metal nanoparticles can accelerate the generation of active species in the substrate and increase the electrical conductivity, which provides a new inspiration to develop efficient catalysts via reconstruction strategies.
Utility of Triethyloxonium Tetrafluoroborate for Chloride Removal during Sarcosine N‐Carboxyanhydride Synthesis: Improving NCA Purity
Authors: Capelôa Leon , Miravet Martí Rafael , Duro‐Castaño Aroa , Nebot Vicent J. , Barz Matthias 
Published: April 2024

AbstractThe clinical translation of polysarcosine (pSar) as polyethylene glycol (PEG) replacement in the development of novel nanomedicines creates a broad demand of polymeric material in high‐quality making high‐purity sarcosine N‐carboxyanhydride (Sar‐NCA) as monomer for its production inevitable. Within this report, we present the use of triethyloxonium tetrafluoroborate in Sar‐NCA synthesis with focus on amino acid and chloride impurities to avoid the sublimation of Sar‐NCAs. With a view towards upscaling into kilogram or ton scale, a new methodology of monomer purification is introduced by utilizing the Meerwein's Salt triethyloxonium tetrafluoroborate to remove chloride impurities by covalent binding and converting chloride ions into volatile products within a single step. The novel straightforward technique enables access to monomers with significantly reduced chloride content (<100 ppm) compared to Sar‐NCA derived by synthesis or sublimation. The derived monomers enable the controlled‐living polymerization in DMF and provide access to pSar polymers with Poisson‐like molecular weight distribution within a high range of chain lengths (Xn 25–200). In conclusion, the reported method can be easily applied to Sar‐NCA synthesis or purification of commercially available pSar‐NCAs and eases access to well‐defined hetero‐telechelic pSar polymers.
Climate change and ecological sustainability in Zimbabwe: Interrogating the role of Higher Education Institutions in disaster management
Authors: Macheka Mavis Thokozile 
Published: April 2024

AbstractZimbabwe has been hit by a number of cyclones in the last two decades, namely Cyclone Eline in 2000, Cyclone Japhet in 2003, Cyclone Dineo in 2017, Cyclone Idai in 2019, Tropical Storm Chalane in 2020, Cyclone Eloise in 2021, Cyclone Ana in 2022 and Cyclone Freddy in 2023. Resultantly, the issue of ecological sustainability becomes a key priority issue in the country, and thus, all key stakeholders’ participation becomes imperative. Against this background, the study interrogates the level of participation and inclusion of Higher Education Institutions (HEIs) in climate change and disaster management in Zimbabwe. This qualitative research adopted a mixed research approach where data were gathered and generated through self‐administered and online questionnaires, focus group discussions, key informant interviews and document review. Findings revealed that the available laws, structures and mechanisms for climate change management and disaster prevention do not have provision for the participation of HEIs. The study further established mixed views among the participants regarding the efforts by HEIs in climate change and disaster management. On one hand, academics and students highlighted roles of HEIs in climate change management, and these include material donations, knowledge creation, training community on climate mainstreaming, awareness campaigns, leading climate change adaptation projects, leading climate change mitigation projects and testing and deployment of innovative practices. On the other, communities voiced their concern on the low level of participation by HEIs. Results illustrate that HEIs do not fully participate in ecological sustainability outside the academia realm. Therefore, the study concludes that in order to realize ecological sustainability, these policy gaps and inconsistences and failures could be bridged by allowing HEIs as centres of knowledge creation to be key players in climate change and disaster management. The ‘business as usual’ approach to environmental challenges could be changed to being key players in addressing climate change issues.