bluuebunny/crossref_metadata_2025_split huggingface dataset:
ITPR1: The missing gene in miosis–ataxia syndrome?
Authors: Chesneau Bertrand , Calvas Patrick , Cassagne Myriam , Varenne Fanny , Rozet Jean‐Michel , Bonneville Fabrice , Chassaing Nicolas , Fournié Pierre , Fares‐Taie Lucas , Plaisancié Julie 
Published: May 2024

AbstractThe association of early‐onset non‐progressive ataxia and miosis is an extremely rare phenotypic entity occasionally reported in the literature. To date, only one family (two siblings and their mother) has benefited from a genetic diagnosis by the identification of a missense heterozygous variant (p.Arg36Cys) in the ITPR1 gene. This gene encodes the inositol 1,4,5‐trisphosphate receptor type 1, an intracellular channel that mediates calcium release from the endoplasmic reticulum. Deleterious variants in this gene are known to be associated with two types of spinocerebellar ataxia, SCA15 and SCA29, and with Gillespie syndrome that is associated with ataxia, partial iris hypoplasia, and intellectual disability. In this work, we describe a novel individual carrying a heterozygous missense variant (p.Arg36Pro) at the same position in the N‐terminal suppressor domain of ITPR1 as the family previously reported, with the same phenotype associating early‐onset non‐progressive ataxia and miosis. This second report confirms the implication of ITPR1 in the miosis–ataxia syndrome and therefore broadens the clinical spectrum of the gene. Moreover, the high specificity of the phenotype makes it a recognizable syndrome of genetic origin.
Neurodevelopmental disorder associated with gene ARF3: A case report
Authors: dos Santos Henrique Suelen , França Mariana Jordão , Silva Junior Rui Carlos , Santos Mara Lúcia Schmitz Ferreira , do Valle Daniel Almeida 
Published: May 2024

AbstractWe present a case study of a patient exhibiting acquired microcephaly along with global developmental delay and drug‐resistant epilepsy. Brain magnetic resonance imaging revealed distinctive features, including a Z‐shaped morphology of the brainstem, volumetric reduction of white matter, diffuse thinning of the corpus callosum, and partial fusion of the cerebellar hemispheres at their most cranial portion. Whole‐exome sequencing uncovered a pathogenic variant in the ARF3 gene c.200A>T, p.(Asp67Val). The neurodevelopmental disorder associated with the ARF3 gene is exceptionally rare, with only two previously documented cases in the literature. This disorder is characterized by global developmental delay and brain malformations, particularly affecting the white matter, cerebellum, and brainstem. It can also manifest as acquired microcephaly and epilepsy. These phenotypic characteristics align with Golgipathies, underscoring the significance of considering this group of conditions in relevant clinical contexts. In cases where a Z‐shaped morphology of the brainstem is observed, ARF3‐associated disorder should be included in the list of differential diagnoses.
The impact of maternal smoking during pregnancy and the age of smoking initiation on incident dementia: A prospective cohort study
Authors: Liu Jiyong , Xiao Yi , Zheng Xiaoting , Cheng Yangfan , Zhang Sirui , Ma Yuanzheng , Jiang Qirui , Wang Shichan , Li Chunyu , Shang Huifang 
Published: May 2024

AbstractINTRODUCTIONThe impact of early‐life tobacco exposure on dementia has remained unknown.METHODSUsing the UK Biobank, the associations of maternal smoking during pregnancy (MSDP) and age of smoking initiation (ASI) with the onset time of all‐cause dementia were estimated with accelerated failure time models. The effects of MSDP and ASI on brain structure and their genetic correlation to Alzheimer's disease (AD) were analyzed. A Mendelian randomization (MR) analysis was conducted.RESULTSThe time ratios for smokers starting in childhood, adolescence, and adulthood (vs never smokers) were 0.87 (0.76 to 0.99), 0.92 (0.88 to 0.96), and 0.95 (0.89 to 1.01). MSDP and smoking in adolescence altered many brain regions, including the hippocampus. In genetic analysis, MSDP was genetically and causally linked to AD, and a younger ASI was genetically correlated to a higher AD risk.DISCUSSIONEarly‐life smoking accelerated dementia onset and was genetically correlated to AD. MSDP demonstrated genetic and causal linkage to AD risks.Highlights
Unlike the commonly used Cox proportional hazards model, this article uses a parametric survival analysis method – the accelerated failure model – to explore the relationship between exposure to onset time. It can be used as an alternative method when the proportional hazards assumption is not met.
Genetic analyses including genetic correlation study and MR analysis and brain structure analyses were conducted to support our findings and explore the potential mechanisms.
The study reveals the relationship between different smoking initiation periods and the onset time of dementia and shows that earlier smoking exposure has a more significant impact on dementia. It emphasizes the importance of preventing early smoking. In the future, more research focusing on the relationship between early exposure and dementia is called for to provide more detailed prevention measures for dementia that cover all age groups.
Carbazochrome sodium sulfonate and tranexamic acid combination therapy to reduce blood transfusions after 24 h of injury: A retrospective study
Authors: Nagasawa Hiroki , Omori Kazuhiko , Ota Soichirou , Muramatsu Ken‐ichi , Takeuchi Ikuto , Ohsaka Hiromichi , Yanagawa Youichi 
Published: May 2024

AbstractAimReducing the blood transfusion volume is important in severe trauma. We hypothesized that carbazochrome sodium sulfonate (CSS) combined with tranexamic acid (TXA) would reduce blood transfusions in severe trauma.MethodsFrom April 2017 to March 2023, data were collected from patients (aged ≥16 years) admitted to our hospital for trauma and administered packed red blood cells (pRBC) and plasma transfusions within 12 h postinjury. Patients infused with CSS and TXA (CSS + TXA group) were compared with those infused with TXA alone (TXA group). The outcomes were blood product transfusion volumes within and after 24 h, the number of patients receiving >6 units of pRBC transfusion after 24 h, duration of intensive care unit and in‐hospital stays, and 28‐day in‐hospital mortality.ResultsIn total, 138 patients were included in the study. In the univariate analyses, the CSS + TXA group (n = 62) showed a significant reduction in the total pRBC transfusion volume, in‐hospital days, and number of patients receiving >6 units of pRBCs in the delayed phase. Based on the multivariate logistics regression analysis, only the CSS + TXA group had a significantly lower adjusted odds ratio for receiving >6 units of pRBC transfusion after 24 h. During the in‐hospital days, the CSS + TXA group did not experience an increased incidence of major complications when compared with the TXA group.ConclusionIn patients with trauma, treatment with CSS with TXA may reduce the requirement for blood transfusion after 24 h. Moreover, this treatment can improve admission outcomes without increasing complications.
Multivariate Silicification‐Assisted Single Enzyme Structure Augmentation for Improved Enzymatic Activity–Stability Trade‐Off
Authors: Zheng Guansheng , Yang Junxian , Zhou Liang , Sinelshchikova Anna , Lei Qi , Lin Jiangguo , Wuttke Stefan , Jeffrey Brinker C. , Zhu Wei 
Published: May 2024

AbstractThe ability to finely tune/balance the structure and rigidity of enzymes to realize both high enzymatic activity and long‐term stability is highly desired but highly challenging. Herein, we propose the concept of the “silicazyme”, where solid inorganic silica undergoes controlled hybridization with the fragile enzyme under moderate conditions at the single‐enzyme level, thus enabling simultaneous structure augmentation, long‐term stability, and high enzymatic activity preservation. A multivariate silicification approach was utilized and occurred around individual enzymes to allow conformal coating. To realize a high activity–stability trade‐off the structure flexibility/rigidity of the silicazyme was optimized by a component adjustment ternary (CAT) plot method. Moreover, the multivariate organosilica frameworks bring great advantages, including surface microenvironment adjustability, reversible modification capability, and functional extensibility through the rich chemistry of silica. Overall silicazymes represent a new class of enzymes with promise for catalysis, separations, and nanomedicine.
Room‐Temperature Near‐Infrared Phosphorescence from C64 Nanographene Tetraimide by π‐Stacking Complexation with Platinum Porphyrin
Authors: Niyas M. A. , Garain Swadhin , Shoyama Kazutaka , Würthner Frank 
Published: May 2024

AbstractNear‐Infrared (NIR) phosphorescence at room temperature is challenging to achieve for organic molecules due to negligible spin–orbit coupling and a low energy gap leading to fast non‐radiative transitions. Here, we show a supramolecular host–guest strategy to harvest the energy from the low‐lying triplet state of C64 nanographene tetraimide 1. 1H NMR and X‐ray analysis confirmed the 1 : 2 stoichiometric binding of a Pt(II) porphyrin on the two π‐surfaces of 1. While the free 1 does not show emission in the NIR, the host–guest complex solution shows NIR phosphorescence at 77 K. Further, between 860–1100 nm, room temperature NIR phosphorescence (λmax=900 nm, τavg=142 μs) was observed for a solid‐state sample drop‐casted from a preformed complex in solution. Theoretical calculations reveal a non‐zero spin–orbit coupling between isoenergetic S1 and T3 of π‐stacked [1 ⋅ Pt(II) porphyrin] complex. External heavy‐atom‐induced spin–orbit coupling along with rigidification and protection from oxygen in the solid‐state promotes both the intersystem crossing from the first excited singlet state into the triplet manifold and the NIR phosphorescence from the lowest triplet state of 1.
Synthesis of Tetra‐Substituted 3‐Hydroxyphthalide Esters by Isothiourea‐Catalysed Acylative Dynamic Kinetic Resolution
Authors: Agrawal Shubham K. , Majhi Pankaj K. , Goodfellow Alister S. , Tak Raj K. , Cordes David B. , McKay Aidan P. , Kasten Kevin , Bühl Michael , Smith Andrew D. 
Published: May 2024

AbstractA general and highly enantioselective method for the preparation of tetra‐substituted 3‐hydroxyphthalide esters via isothiourea‐catalysed acylative dynamic kinetic resolution (DKR) is reported. Using (2S,3R)‐HyperBTM (5 mol %) as the catalyst, the scope and limitations of this methodology have been extensively probed, with high enantioselectivity and good to excellent yields observed (>40 examples, up to 99 %, 99 : 1 er). Substitution of the aromatic core within the 3‐hydroxyphthalide skeleton, as well as aliphatic and aromatic substitution at C(3), is readily tolerated. A diverse range of anhydrides, including those from bioactive and pharmaceutically relevant acids, can also be used. The high enantioselectivity observed in this DKR process has been probed computationally, with a key substrate heteroatom donor O⋅⋅⋅acyl‐isothiouronium interaction identified through DFT analysis as necessary for enantiodiscrimination.
Site‐Selective Ortho/Ipso C−H Difunctionalizations of Arenes using Thianthrene as a Leaving Group
Authors: Dupommier Dorian , Vuagnat Martin , Rzayev Javid , Roy Sourav , Jubault Philippe , Besset Tatiana 
Published: May 2024

AbstractSite‐selective ortho/ipso C−H difunctionalizations of aromatic compounds were designed to afford polyfunctionalized arenes including challenging 1,2,3,4‐tetrasubstituted ones (62 examples, up to 97 % yields). To ensure the excellent regioselectivity of the process while keeping high efficiency, an original strategy based on a “C−H thianthenation/Catellani‐type reaction” sequence was developed starting from simple arenes. Non‐prefunctionalized arenes were first regioselectively converted into the corresponding thianthrenium salts. Then, a palladium‐catalyzed, norbornene (NBE)‐mediated process allowed the synthesis of ipso‐olefinated/ortho‐alkylated polyfunctionalized arenes using a thianthrene as a leaving group (revisited Catellani reaction). Pleasingly, using a commercially available norbornene (NBE) and a unique catalytic system, synthetic challenges known for the Catellani reaction with aryl iodides were smoothly and successfully tackled with the “thianthrenium” approach. The protocol was robust (gram‐scale reaction) and was widely applied to the two‐fold functionalization of various arenes including bio‐active compounds. Moreover, a panel of olefins and alkyl halides as coupling partners was suitable. Pleasingly, the “thianthrenium” strategy was successfully further applied to the incorporation of other groups at the ipso (CN/alkyl/H, aryl) and ortho (alkyl, aryl, amine, thiol) positions, showcasing the generality of the process.
Size and Polarizability of Boron Cluster Carriers Modulate Chaotropic Membrane Transport
Authors: Salluce Giulia , Folgar‐Cameán Yeray , Barba‐Bon Andrea , Nikšić‐Franjić Ivana , El Anwar Suzan , Grüner Bohumír , Lostalé‐Seijo Irene , Nau Werner M. , Montenegro Javier 
Published: May 2024

AbstractPerhalogenated closo‐borates represent a new class of membrane carriers. They owe this activity to their chaotropicity, which enables the transport of hydrophilic molecules across model membranes and into living cells. The transport efficiency of this new class of cluster carriers depends on a careful balance between their affinity to membranes and cargo, which varies with chaotropicity. However, the structure–activity parameters that define chaotropic transport remain to be elucidated. Here, we have studied the modulation of chaotropic transport by decoupling the halogen composition from the boron core size. The binding affinity between perhalogenated decaborate and dodecaborate clusters carriers was quantified with different hydrophilic model cargos, namely a neutral and a cationic peptide, phalloidin and (KLAKLAK)2. The transport efficiency, membrane‐lytic properties, and cellular toxicity, as obtained from different vesicle and cell assays, increased with the size and polarizability of the clusters. These results validate the chaotropic effect as the driving force behind the membrane transport propensity of boron clusters. This work advances our understanding of the structural features of boron cluster carriers and establishes the first set of rational design principles for chaotropic membrane transporters.
Unveiling the Mechanistic Role of Chiral Palladacycles in Pd(II)‐Catalyzed Enantioselective C(sp3)−H Functionalization
Authors: Yuan Chen‐Hui , Wang Xiao‐Xia , Huang Keyun , Jiao Lei 
Published: May 2024

AbstractPalladium‐catalyzed enantioselective C(sp3)−H functionalization reactions has attracted considerable attention due to its ability for the synthesis of enantiomerically enriched molecules and stimulation of novel retrosynthetic disconnections. Understanding the reaction mechanism, especially the stereochemical process of the reaction, is crucial for the rational design of more efficient catalytic systems. Previously, we developed a Pd(II)/sulfoxide‐2‐hydroxypridine (SOHP) catalytic system for asymmetric C(sp3)−H functionalization reactions. In this study, we focused on unraveling the chemistry of chiral palladacycles involved in the Pd(II)‐catalyzed enantioselective C(sp3)−H functionalization. We have isolated key palladacycle intermediates involved in the enantioselective β‐C(sp3)−H arylation of carboxylic acids catalyzed by the Pd(II)/SOHP system. These palladacycles, exhibiting ligand‐induced chirality, provided a significant opportunity to investigate the stereochemical process and the ligand effect in this asymmetric C−H functionalization. Our investigation provided direct evidence for the C−H palladation step as the enantioselectivity‐determining step, which forms diastereomeric palladacycles that exhibited preservation of chirality in the functionalization step. DFT calculations provided insights into the chiral induction in palladacycle formation. This work highlights the value of chiral palladacycle chemistry in offering mechanistic insights into the Pd(II)‐catalyzed asymmetric C(sp3)−H functionalization reactions.
Enhancing the Cycle Life of Zinc–Iodine Batteries in Ionic Liquid‐Based Electrolytes
Authors: Kar Mega , Pozo‐Gonzalo Cristina 
Published: May 2024

AbstractAqueous zinc–iodine (Zn−I2) batteries are gaining significant attention due to their low‐cost, high safety and high theoretical capacity. Nevertheless, their long cycle and durability have been hampered due to the use of aqueous media that, over time, lead to Zn dendrite formation, hydrogen evolution reaction, and polyiodide dissolution. Xiao et al. recently reported the addition of an imidazolium‐based ionic liquid (IL) to an aqueous electrolyte and found that the IL plays a key role in modifying the solvation of Zn2+ ions in the bulk electrolyte and the inner Helmholtz plane, repelling H2O molecules away from the Zn anode surface. UV/Vis and NMR spectroscopy also indicates a strong interaction between imidazolium cation [EMIM]+ and I3−, thereby reducing polyiodide shuttling and enhancing the cycle life of the battery. Overall, a capacity decay rate of only 0.01 % per cycle after over 18,000 cycles at 4 A g−1, is observed, making the use of IL additives in aqueous electrolytes highly promising candidates for Zn−I2 batteries.
Ultralow Catalytic Loading for Optimised Electrocatalytic Performance of AuPt Nanoparticles to Produce Hydrogen and Ammonia
Authors: Bezerra Leticia S. , Brasseur Paul , Sullivan‐Allsop Sam , Cai Rongsheng , da Silva Kaline N. , Wang Shiqi , Singh Harishchandra , Yadav Ashok K. , Santos Hugo L. S. , Chundak Mykhailo , Abdelsalam Ibrahim , Heczko Vilma J. , Sitta Elton , Ritala Mikko , Huo Wenyi , Slater Thomas J. A. , Haigh Sarah J. , Camargo Pedro H. C. 
Published: May 2024

AbstractThe hydrogen evolution and nitrite reduction reactions are key to producing green hydrogen and ammonia. Antenna–reactor nanoparticles hold promise to improve the performances of these transformations under visible‐light excitation, by combining plasmonic and catalytic materials. However, current materials involve compromising either on the catalytic activity or the plasmonic enhancement and also lack control of reaction selectivity. Here, we demonstrate that ultralow loadings and non‐uniform surface segregation of the catalytic component optimize catalytic activity and selectivity under visible‐light irradiation. Taking Pt−Au as an example we find that fine‐tuning the Pt content produces a 6‐fold increase in the hydrogen evolution compared to commercial Pt/C as well as a 6.5‐fold increase in the nitrite reduction and a 2.5‐fold increase in the selectivity for producing ammonia under visible light excitation relative to dark conditions. Density functional theory suggests that the catalytic reactions are accelerated by the intimate contact between nanoscale Pt‐rich and Au‐rich regions at the surface, which facilitates the formation of electron‐rich hot‐carrier puddles associated with the Pt‐based active sites. The results provide exciting opportunities to design new materials with improved photocatalytic performance for sustainable energy applications.
Molecularly Tunable Heterostructured Co‐Polymers Containing Electron‐Deficient and ‐Rich Moieties for Visible‐Light and Sacrificial‐Agent‐Free H2O2 Photosynthesis
Authors: Cheng Jingzhao , Wang Wang , Zhang Jianjun , Wan Sijie , Cheng Bei , Yu Jiaguo , Cao Shaowen 
Published: May 2024

AbstractAs an alternative to hydrogen peroxide (H2O2) production by complex anthraquinone oxidation process, photosynthesis of H2O2 from water and oxygen without sacrificial agents is highly demanded. Herein, a covalently connected molecular heterostructure is synthesized via sequential C−H arylation and Knoevenagel polymerization reactions for visible‐light and sacrificial‐agent‐free H2O2 synthesis. The subsequent copolymerization of the electron‐deficient benzodithiophene‐4,8‐dione (BTD) and the electron‐rich biphenyl (B) and p‐phenylenediacetonitrile (CN) not only expands the π‐conjugated domain but also increases the molecular dipole moment, which largely promotes the separation and transfer of the photoinduced charge carriers. The optimal heterostructured BTDB‐CN0.2 manifested an impressive photocatalytic H2O2 production rate of 1920 μmol g−1 h−1, which is 2.2 and 11.6 times that of BTDB and BTDCN. As revealed by the femtosecond transient absorption (fs‐TA) and theoretical calculations, the linkage serves as a channel for the rapid transfer of photogenerated charge carriers, enhancing the photocatalytic efficiency. Further, in situ diffuse reflectance infrared Fourier transform spectroscopy (DRIFTS) uncovers that the oxygen reduction reaction occurs through the step one‐electron pathway and the mutual conversion between C=O and C−OH with the anchoring of H+ during the catalysis favored the formation of H2O2. This work provides a novel perspective for the design of efficient organic photocatalysts.
Responsive Organic Fluorescent Aggregates Based on Ion‐π Interactions Away from Fluorescent Conjugated Groups
Authors: Zhu Guanqun , Liu Zhiyang , Qi Qi , Xing Junfei , Li Quan 
Published: May 2024

AbstractResponsive organic luminescent aggregates have a wide range of application fields, but currently there is still a lack of reasonable molecular design strategies. Introducing ion‐π interactions into molecules can effectively alter their luminescent properties. However, current research typically focuses on ion localization at luminescent conjugated groups with the strong interaction forces. In this work, we introduce the flexible alkoxy chain spacers between fluorescent conjugated groups and ion‐π interaction sites, and then adjust the fluorescence performance of the molecule by changing the strength of ion‐π interactions. Bromine ion‐based molecules with strong ion‐π interactions exhibit high and stable fluorescence quantum yields in crystals and amorphous powders under the external stimuli. Hexafluorophosphate ion‐based molecules with weak ion‐π interactions have the high fluorescence quantum yield in crystals and very low fluorescence quantum yield in amorphous powders, showing variable fluorescence intensities under external stimuli. This demonstrates a new class of responsive organic luminescent solid‐state materials.
Supramolecular Assembly Frameworks (SAFs): Shaping the Future of Functional Materials
Authors: Tang Xianhui , Pang Jiandong , Dong Jinqiao , Liu Yan , Bu Xian‐He , Cui Yong 
Published: May 2024

AbstractSupramolecular assembly frameworks (SAFs) represent a new category of porous materials, utilizing non‐covalent interactions, setting them apart from metal–organic frameworks (MOFs) and covalent organic frameworks (COFs). This category includes but is not restricted to hydrogen‐bonded organic frameworks and supramolecular organic frameworks. SAFs stand out for their outstanding porosity, crystallinity, and stability, alongside unique dissolution‐recrystallization dynamics that enable significant structural and functional modifications. Crucially, their non‐covalent assembly strategies allow for a balanced manipulation of porosity, symmetry, crystallinity, and dimensions, facilitating the creation of advanced crystalline porous materials unattainable through conventional covalent or coordination bond synthesis. Despite their considerable promise in overcoming several limitations inherent to MOFs and COFs, particularly in terms of solution‐processability, SAFs have received relatively little attention in recent literature. This Minireview aims to shed light on standout SAFs, exploring their design principles, synthesis strategies, and characterization methods. It emphasizes their distinctive features and the broad spectrum of potential applications across various domains, aiming to catalyze further development and practical application within the scientific community.