bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature
Authors: Li Qing , Chen Zefu , Wang Jie , Xu Kexin , Fan Xin , Gong Chunxiu , Wu Zhihong , Zhang Terry Jianguo , Wu Nan 
Published: September 2023

ImportanceCurrently, the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) for short stature cohorts is uncertain. Despite previous studies reporting the widespread use of ES and CMA, a definitive diagnostic yield has not been established.ObjectiveTo investigate the diagnostic yield of ES and CMA in short stature.Data SourcesA systematic literature search was conducted using relevant keywords in 3 databases (PubMed, Embase, and Web of Science) in February 2023.Study SelectionEligible studies for meta-analysis were those that had at least 10 participants with short stature who were diagnosed using either ES or CMA and the number of diagnosed patients was reported. Of 5222 identified studies, 20 were eventually included in the study.Data Extraction and SynthesisTwo independent investigators extracted relevant information from each study, which was then synthesized using proportional meta-analysis to obtain the overall diagnostic yield of ES and CMA.Main Outcomes and MeasuresThe primary outcome measure was to determine the overall diagnostic yield of ES and CMA. A subgroup meta-analysis was also performed to assess if the diagnostic yield varied depending on whether ES was used as a first-tier or last-resort test. Additionally, a meta-regression was carried out to investigate how the diagnostic yield varied over time.ResultsTwenty studies were included, comprising 1350 patients with short stature who underwent ES and 1070 patients who completed CMA. The overall diagnostic yield of ES among the cohorts and CMA among the cohorts was found to be 27.1% (95% CI, 18.1%-37.2%) and 13.6% (95% CI, 9.2%-18.7%), respectively. No statistically significant difference was observed between the first-tier (27.8%; 95% CI, 15.7%-41.8%) and last-resort groups (25.6%; 95% CI, 13.6%-39.6%) (P = .83) or in the percentage of positively diagnosed patients over time. No statistically significant difference was observed between the first-tier (27.8%; 95% CI, 15.7%-41.8%) and last-resort groups (25.6%; 95% CI, 13.6%-39.6%) (P = .83) or in the percentage of positively diagnosed patients over time.Conclusion and RelevanceThis systematic review and meta-analysis provides high-level evidence supporting the diagnostic efficacy of ES and CMA in patients with short stature. The findings serve as a solid reference for clinicians when making informed decisions about recommending these genetic tests.
Multilength Scale Hierarchy in Metal‐Organic Frameworks: Synthesis, Characterization and the Impact on Applications
Authors: Tsang Min Ying , Sinelshchikova Anna , Zaremba Orysia , Schöfbeck Flora , Balsa Alejandra Durán , Reithofer Michael R. , Wuttke Stefan , Chin Jia Min 
Published: September 2023

AbstractEvolutionary selection in nature has led to hierarchical structuring as a fundamental optimization strategy for biological structures, maximizing functional performance while minimizing resource usage. Precise hierarchical organization of natural materials over a wide range of length scales gives rise to unique synergistic properties that could not be achieved by single components. Despite the clear advantages offered by hierarchically structuring matter, mastering hierarchical control based on the current synthetic toolbox is still a challenge. In this review, some recent advancements in the fabrication of hierarchical metal organic framework (MOF) materials are highlighted and the advantages that arise due to different kinds of MOF hierarchy are critically analyzed. The special focus of the review lies in highlighting the applications where MOF hierarchical materials can be most impactful and describing characterization techniques currently at the disposal of scientists for the precise characterization of MOF hierarchical structures across all length scales. Finally, the intent is to inspire reticular chemists to master hierarchical control of MOF materials so as to fully utilize the advantages MOFs offer for various applications.
Design and Synthesis of Cubic K3−2xBaxSbSe4 Solid Electrolytes for K–O2 Batteries
Authors: Shao Jieren , Ao Huiling , Qin Lei , Elgin Jocelyn , Moore Curtis E. , Khalifa Yehia , Zhang Songwei , Wu Yiying 
Published: September 2023

AbstractDeveloping K‐ion conducting solid‐state electrolytes (SSEs) plays a critical role in the safe implementation of potassium batteries. In this work, a chalcogenide‐based potassium ion SSE is reported, K3SbSe4, which adopts a trigonal structure at room temperature. Single‐crystal structural analysis reveals a trigonal‐to‐cubic phase transition at the low temperature of 50 °C, which is the lowest among similar compounds and thus provides easy access to the cubic phase. The substitution of barium for potassium in K3SbSe4 leads to the creation of potassium vacancies, expansion of lattice parameters, and a transformation from a trigonal phase to a cubic phase. As a result, the maximum conductivity of K3−2xBaxSbSe4 reaches around 0.1 mS cm−1 at 40 °C for K2.2Ba0.4SbSe4, which is over two orders of magnitude higher than that of undoped K3SbSe4. This novel SSE is successfully employed in a K–O2 battery operating at room temperature where a polymer‐laminated K2.2Ba0.4SbSe4 pellet serves as a separator between the oxygen cathode and the potassium metal anode. Effective protection of the K metal anode against corrosion caused by O2 is demonstrated.
Π‐Radical Photosensitizer for Highly Efficient and Stable Near‐Infrared Photon Upconversion
Authors: Wei Yaxiong , An Kebin , Xu Xinsheng , Ye Zeyuan , Yin Xiaojun , Cao Xiaosong , Yang Chuluo 
Published: September 2023

AbstractNear‐infrared (NIR)‐to‐blue triplet–triplet annihilation upconversion (TTA‐UC) exhibits substantial potential for diverse applications, encompassing photovoltaics, photocatalysis, bioimaging, and photodynamic therapy. A major challenge in this field, however, is attaining high upconversion quantum yields (ΦUC) without using transition metals as NIR photosensitizers. This research presents an innovative organic π‐radical photosensitizer (TTM‐TPA) featuring extended absorption in the NIR region (≈760 nm) that is capable of generating pronounced anti‐Stokes emissions when coupled with suitable triplet acceptors. By eliminating energy loss associated with intersystem crossing and promoting rapid doublet–triplet energy transfer processes, the binary TTM‐TPA/perylene system achieves ΦUC values of up to 6.8% and an anti‐Stokes shift of 0.93 eV. Notably, the TTA‐UC system demonstrates exceptional stability when subjected to intense 733 nm laser irradiation (4 W cm−2), maintaining nearly constant upconversion intensity after 4 h. These findings underscore the considerable potential of doublet‐sensitized TTA‐UC for a broad array of practical applications.
Self‐Healing, Recyclable, Biodegradable, Electrically Conductive Vitrimer Coating for Soft Robotics
Authors: Spallanzani Giulia , Najafi Maedeh , Zahid Muhammad , Papadopoulou Evie L. , Ceseracciu Luca , Catalano Manuel , Athanassiou Athanassia , Cataldi Pietro , Zych Arkadiusz 
Published: September 2023

AbstractSensors and transducers enable the robots’ movements and interactions with humans and the environment. Particularly, tactile and motion sensors, even those inspired by the human skin, often miss many of its essential features. Indeed, the materials that constitute such sensors are often rigid and lack self‐healing and biodegradability. Furthermore, the large‐scale diffusion of these technologies propelled by robots spread in many aspects of the lives, from industrial to household settings, contributes heavily to the electronic and robotic waste problem. Recycling strategies for materials for robotics sensors are thus pivotal for future development. This work proposes self‐healable, recyclable, and biodegradable electrically conductive coatings. These coatings are based on conductive inks that combine graphene nanoplatelets and carbon nanofibers with a soft biodegradable vitrimer binder and are realized by spray coating. The use of the vitrimer ensures satisfying adhesion to diverse substrates, flexibility, conformability, self‐healing, and recyclability of the conductive coating. This material is a sustainable alternative to standard conductive inks for flexible electronics and soft robotics. Indeed, tests for the live monitoring of SoftHand3, the grasping system of many worldwide diffused robots, have yielded promising results. The use of biodegradable ingredients and the possibility of recycling makes it an appealing material to face the sustainability issue of today's electronics and robotics.
Effects of 2,3‐DPG knockout on SCD phenotype in Townes SCD model mice
Authors: Barakat Amey , Jasuja Reema , Tomlinson Lindsay , Wenzel Zane , Ramaiah Lila , Petterson Betty A. , Kapinos Brendon , Sawant Anagha , Pagan Vicente , Lintner Nathanael , Field Denise , Ahn Youngwook , Knee Kelly M. 
Published: September 2023

AbstractSickle cell disease (SCD) is a severe, multisystemic hematological disorder that impacts nearly every major organ in adults. The current approved treatments for SCD directly target mutant hemoglobin or address downstream disease pathology. Several compounds targeting reduction of 2,3‐DPG by activation of Pyruvate Kinase‐R are currently being evaluated in SCD patients. In this study, we genetically engineered a mouse lacking 2,3‐DPG on the Townes SCD mouse model background and evaluated the effects of 2,3‐DPG loss on disease pathology. Animals lacking 2,3‐DPG showed improvements in hematological markers and reductions in RBC sickling relative to native Townes mice, however, minimal difference in organ damage was observed in 2,3‐DPG deficient mice compared to native Townes animals. When animals lacking 2,3‐DPG were dosed with a compound designed to increase hemoglobin oxygen affinity, oxygen delivery related toxicity was observed.
Prospective analysis to determine barriers to allogeneic hematopoietic cell transplantation in patients with acute leukemia
Authors: Nath Karthik , Lee Jasme , Elko Theresa A. , Levy Lauren , Preston Elaina , Devlin Sean M. , Ponce Doris M. , Lin Richard J. , Shaffer Brian C. , Cho Christina , Politikos Ioannis , Jakubowski Ann A. , Park Jae H. , Rampal Raajit , Perales Miguel‐Angel , Tallman Martin S. , Barker Juliet N. , Berman Ellin , Tamari Roni , Stein Eytan , Giralt Sergio A. , Gyurkocza Boglarka 
Published: September 2023

AbstractAllogeneic hematopoietic cell transplantation (allo‐HCT) is a potentially curative treatment for patients with acute leukemia. Despite this, studies have shown that only a minority of patients ultimately proceed to allo‐HCT. The primary objective of this prospective, observational study was to identify the rate of allo‐HCT in patients for whom it was recommended, and reasons why patients deemed appropriate and eligible for HCT did not subsequently undergo transplant. Between April 2016 and April 2021, adult patients with newly diagnosed or relapsed/refractory acute leukemia were enrolled at the time of induction/reinduction therapy. Initial transplantation workup and allo‐HCT recommendations were made during the early phase of induction/reinduction. Of the 307 enrolled patients, allo‐HCT was recommended to 85% (n = 259), of whom 66% (n = 170) underwent transplant. Donor sources comprised 54% human leukocyte antigen (HLA)‐matched unrelated donors, 20% HLA‐matched sibling donors and HLA‐mismatched graft sources with 15% umbilical cord blood units, 8% HLA‐mismatched unrelated donors, and 4% HLA‐haploidentical donors. The most common reason for transplant disqualification in the 89 patients in whom it was initially recommended was persistent/relapsed disease (70%), followed by early patient death (10%). In this prospective study, we report a high allo‐HCT rate, which may be due to early transplant referral and workup. The main allo‐HCT barrier was disease control, followed by early patient death. With the increasing availability of HLA‐mismatched graft sources, the lack of donor availability was not a transplant barrier. Further development of novel transplant strategies for patients not achieving remission and improvements in induction regimens could result in increased allo‐HCT utilization.
Pd‐catalyzed Three‐component Cross‐coupling of Arylhydrazides with Arylboronic Acids and TFBen: Facile Access to Diaryl Ketones via Denitrogenative Carbonylation
Authors: Zhang Wei , Ai Chunxin , Wang Kaikai , Guo Jiao , Zhao Baoli 
Published: September 2023

AbstractCarbonylation with CO surrogates is one of the most common methods for introduction of carbonyl groups in ketone synthesis. However, arylhydrazides have not been used as an aryl source in this denitrogenative method even though they are cheap and accessible. Here, we report development of palladium catalysis for the three‐component reactions of arylboronic acids, CO‐surrogates (benzene‐1,3,5‐triyl triformate), and arylhydrazides under oxygen conditions to produce diaryl ketones. (Hetero)arylhydrazides, as well as (hetero)arylboronic acids are suitable reaction partners, and good functional group compatibility was achieved. This method could be used for streamlined synthesis of diaryl ketones, ketoprofen and fenofibrate.
TestDimorph: An R package for analysis of interpopulation sexual dimorphism differences using summary statistics
Authors: Abulnoor Bassam A. , Attia MennattAllah Hassan , Konigsberg Iain R. , Konigsberg Lyle W. 
Published: September 2023

AbstractObjectiveThe degree of sexual dimorphism in certain traits between males and females differ from one sample to another. Although trait differences by sex are often reported in bioanthropological research, few studies test for statistical significance or make raw data available. TestDimorph is the first R package dedicated to testing and comparing the degree of sexual dimorphism among different samples by leveraging summary statistics.Materials and MethodsWe provide two approaches of analysis of inter‐sample differences in degree of sexual dimorphism: univariate and multivariate for two or more samples. The methods follow upon publications primarily from the AJBA. Within‐sex size variability between samples is compared using one‐way ANOVA followed by control for multiple pairwise comparisons. In addition, we compute the overlapping area between the density functions of two normal distributions from the mixture intersection index or the non‐overlapping area using the dissimilarity index as well as Hedges' g with inferential support using the 95% confidence interval. Finally, we use a multivariate analysis of differences in patterning of sexual dimorphism between samples.ResultsWe demonstrate various results from applying TestDimorph functions to data supplied with the package.DiscussionThe package has many features including functionality for working with summary statistics, simulating data from summary statistics, and the extraction of summary statistics from raw data, so that the entire analysis can be performed through the package.
Ein Zweidimensionales Konjugiertes Poly(benzimidazobenzophenanthrolin) Leiter‐Covalent Organic Framework für schnelle Protonenspeicherung**
Authors: Wang Mingchao , Wang Gang , Naisa Chandrasekhar , Fu Yubin , Gali Sai Manoj , Paasch Silvia , Wang Mao , Wittkaemper Haiko , Papp Christian , Brunner Eike , Zhou Shengqiang , Beljonne David , Steinrück Hans‐Peter , Dong Renhao , Feng Xinliang 
Published: September 2023

AbstractDie elektrochemische Protonenspeicherung spielt eine wesentliche Rolle bei der Entwicklung von hochleistungsfähigen Energiespeichern der nächsten Generation, z. B. von wasserbasierten Batterien. Zweidimensionale konjugierte kovalente organische Gerüstverbindungen (2D c‐COFs) sind vielversprechende Elektrodenmaterialien, aber ihre Protonen‐ und Metallionen‐Insertionsmechanismen sind nach wie vor schwer zu beschreiben, die Protonenspeicherung in COFs ist kaum erforscht. Hier stellen wir ein auf Perinon‐basiertes Poly(benzimidazobenzophenanthrolin) (BBL)‐Leiter‐2D c‐COF zur schnellen Protonenspeicherung sowohl in einem milden wässrigen Zn‐Ionen‐Elektrolyt als auch in einer starken Säure vor. Wir zeigen, dass die entladenen C−O− Gruppen aufgrund der beträchtlichen π‐Delokalisierung in Perinon eine weitgehend reduzierte Basizität aufweisen, was dem 2D c‐COF eine besondere Affinität zu Protonen verleiht sowie in schneller Kinetik resultiert. Dadurch weist unsere 2D c‐COF‐Elektrode eine herausragende Ratenfähigkeit bis 200 A g−1 (über 2500 C) auf und übertrifft damit bisherige konjugierten Polymere, COFs und metallorganischen Gerüstverbindungen. Unsere Arbeit ist das erste Beispiel für reine Protonenspeicherung in COFs und unterstreicht das große Potenzial von konjugierten 2D‐BBL‐Leiterer‐Polymeren für zukünftige energetische Anwendungen.
Plasmon‐Induced Radical‐Radical Heterocoupling Boosts Photodriven Oxidative Esterification of Benzyl Alcohol over Nitrogen‐Doped Carbon‐Encapsulated Cobalt Nanoparticles
Authors: Hao Quanguo , Li Zhenhua , Shi Yiqiu , Li Ruizhe , Li Yuan , Wang Liang , Yuan Hong , Ouyang Shuxin , Zhang Tierui 
Published: September 2023

AbstractSelective oxidation of alcohols under mild conditions remains a long‐standing challenge in the bulk and fine chemical industry, which usually requires environmentally unfriendly oxidants and bases that are difficult to separate. Here, a plasmonic catalyst of nitrogen‐doped carbon‐encapsulated metallic Co nanoparticles (Co@NC) with an excellent catalytic activity towards selective oxidation of alcohols is demonstrated. With light as only energy input, the plasmonic Co@NC catalyst effectively operates via combining action of the localized surface‐plasmon resonance (LSPR) and the photothermal effects to achieve a factor of 7.8 times improvement compared with the activity of thermocatalysis. A high turnover frequency (TOF) of 15.6 h−1 is obtained under base‐free conditions, which surpasses all the reported catalytic performances of thermocatalytic analogues in the literature. Detailed characterization reveals that the d states of metallic Co gain the absorbed light energy, so the excitation of interband d‐to‐s transitions generates energetic electrons. LSPR‐mediated charge injection to the Co@NC surface activates molecular oxygen and alcohol molecules adsorbed on its surface to generate the corresponding radical species (e.g., ⋅O2−, CH3O⋅ and R‐⋅CH‐OH). The formation of multi‐type radical species creates a direct and forward pathway of oxidative esterification of benzyl alcohol to speed up the production of esters.
Modified lignin‐induced composite hydrogels with good mechanical properties, adhesion, and UV resistance for strain sensors
Authors: Chen Jing , Li Bengang , Ma Xiaofeng , Zhou Shuai , Gu Qun , Bian Hua , Luo Zhenyang 
Published: September 2023

AbstractThe flexibility and functionality of conductive hydrogels are crucial to applications under various scenarios and complex environments. Due to single functionality and weakness in mechanical properties, the application of conductive hydrogels in flexible wearable devices remains a challenge. In this study, lignin‐graft‐poly(acrylic acid) (LPAA) was incorporated into acrylamide (AM)/sodium chloride (NaCl) solution to fabricate composite conductive hydrogels. NaCl enhanced the conductivity of hydrogels. The hydrogen‐bond crosslinking network was formed by adding LPAA into the hydrogel, which enhanced the mechanical properties of the hydrogel (the tensile strength was 96 kPa and the compressive strength was 0.54 MPa). With LPAA added, the adhesion of hydrogels was improved to 11.3 kPa on glass, 14.2 kPa on plastic, and 17.3 kPa on metal. LPAA also provided excellent UV shielding ability (99.95%) for hydrogels while maintaining good transparency. The conductive hydrogels with good sensitivity (Gauge Factor = 2.51, 100%–500%) and stability can be used as strain sensors for monitoring physical activity. It is expected to be a candidate material for future flexible wearable electronic devices.
Synthesis and characterization of long‐chain (C20 ~ C48) fatty acid amides (FAAms) from soybean oil and alkyl amines for phase change material applications
Authors: Zheng Yue , Martinez Carlos J. , Youngblood Jeffrey P. 
Published: September 2023

AbstractBio‐based organic phase change materials (PCMs) have drawn attention considering their great value in environmental sustainability as a latent heat storage strategy. In this study, bio‐based fatty acid amides (FAAms) were synthesized directly from soybean oil and different amines through a solvent‐free reaction with a non‐toxic catalyst (DABCO). The chemical and thermal properties were confirmed by FT‐IR, NMR, DSC, and TGA measurements. The effects of oil saturation and chain length were investigated. FAAms were successfully synthesized from most of the primary alkyl amines with high purity and yield. Fifteen different FAAms exhibit high latent heat (up to 202 J/g) with a single‐phase transition peak. A general trend of increasing enthalpy of fusion, narrower phase transition temperature range, higher melting temperature, and better thermal stability was found with increasing FAAms chain length. An opposite trend was observed for some long‐chain FAAms (C > 42). Overall, a wide choice of green, organic PCMs with comparable thermal properties to petroleum based PCMs is provided in this work. Those FAAms with high working temperatures (>100°C) could expand the application of organic PCM to different fields such as steam generation, textile, rubber industry, etc.
Secretory production of 7‐dehydrocholesterol by engineered Saccharomyces cerevisiae
Authors: Ke Xia , Pan Zi‐Hao , Du Hong‐Fei , Shen Yi , Shen Ji‐Dong , Liu Zhi‐Qiang , Zheng Yu‐Guo 
Published: September 2023

AbstractBackground7‐Dehydrocholesterol (7‐DHC) can be directly converted to vitamin D3 by UV irradiation and de novo synthesis of 7‐DHC in engineered Saccharomyces cerevisiae has been recognized as an attractive substitution to traditional chemical synthesis. Introduction of sterol extracellular transport pathway for the secretory production of 7‐DHC is a promising approach to achieve higher titer and simplify the downstream purification processing.Methods and resultsA series of genes involved in ergosterol pathway were combined reinforced and reengineered in S. cerevisiae. A biphasic fermentation system was introduced and 7‐DHC was found to be enriched in oil‐phase with an increased titer by 1.5‐folds. Quantitative PCR revealed that say1, atf2, pdr5, pry1‐3 involved in sterol storage and transport were all significantly induced in sterol overproduced strain. To enhance the secretion capacity, lipid transporters of pathogen‐related yeast proteins (Pry), Niemann–Pick disease type C2 (NPC2), ATP‐binding cassette (ABC)‐family, and their homologues were screened. Both individual and synergetic overexpression of Plant pathogenesis Related protein‐1 (Pr‐1) and Sterol transport1 (St1) largely increased the de novo biosynthesis and secretory productivity of 7‐DHC, and the final titer reached 28.2 mg g−1 with a secretion ratio of 41.4%, which was 26.5‐folds higher than the original strain. In addition, the cooperation between Pr‐1 and St1 in sterol transport was further confirmed by confocal microscopy, molecular docking, and directed site‐mutation.ConclusionSelective secretion of different sterol intermediates was characterized in sterol over‐produced strain and the extracellular export of 7‐DHC developed in present study significantly improved the cell biosynthetic capacity, which offered a novel modification idea for 7‐DHC de novo biosynthesis by S. cerevisiae cell factory.