bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cutaneous Neurofibromas and Quality of Life in Adults With Neurofibromatosis Type 1
Authors: Lin Michelle Jade , Yao Hanqi , Vera Katya , Patel Ekshika , Johnson Mandi , Caroline Peter , Ramos Jeanie , Mehta Jasmine , Hu Xing , Blakeley Jaishri O. , Romo Carlos G. , Sarin Kavita Y. 
Published: August 2024

ImportanceThere is a burgeoning interest in therapeutic development for cutaneous neurofibromas (cNFs), a major cause of morbidity in persons with neurofibromatosis type 1 (NF1). To determine meaningful clinical trial outcomes, deeper understanding is needed regarding how cNFs are associated with quality of life (QoL). However, this understanding has been hampered by challenges in recruiting participants with this rare genetic disease.ObjectiveTo develop a large, crowdsourced validated registry of persons with NF1 and determine the association of specific cNF features with QoL, pain, and itch.Design, Setting, and ParticipantsFrom May 2021 to December 2023, a decentralized platform was developed and recruited persons 40 years or older with NF1 and at least 1 cNF from 49 states and 12 countries, who provided clinical survey data, detailed photographs, and genetic sequencing data. Photographs from 583 participants were scored on 12 features of cNFs, including general severity, number, size, facial severity, color, and subtypes.ExposurecNF features derived from participant-supplied photographs.Main Outcomes and MeasuresTotal Skindex scores and subdomain scores (symptoms, emotion, function, pain, and itch).ResultsOf 583 participants, 384 (65.9%) were female, and the mean (range) age was 51.7 (40.0-83.0) years. Female sex, general severity, number, size, and facial severity of cNFs were negatively associated with QoL, as demonstrated by increased total Skindex scores. QoL had the largest association with the number of cNFs and presence of facial cNFs. Increasing number of cNFs was associated with worse QoL, and even individuals with a low cNF burden (&amp;lt;10 total cNFs) experienced a decrease in QoL.Conclusions and RelevanceThe results of this study suggest that reducing cNF number, particularly on the face, may be associated with improved QoL in individuals with NF1. In addition, early intervention before the development of numerous tumors may lead to the highest benefit in QoL. These data potentially provide insight into which individuals and cNF tumors may benefit most from therapy and highlights the utility of a completely decentralized, photograph-validated and age-controlled study for rare genetic disease. This cohort will allow analysis of disease and tumor heterogeneity after full phenotypic expression is achieved in NF1 and potentially serves as an example in its design for other rare diseases that struggle from poor recruitment.
Polygenic Risk Scores and Twin Concordance for Schizophrenia and Bipolar Disorder
Authors: Song Jie , Pasman Joëlle A. , Johansson Viktoria , Kuja-Halkola Ralf , Harder Arvid , Karlsson Robert , Lu Yi , Kowalec Kaarina , Pedersen Nancy L. , Cannon Tyrone D. , Hultman Christina M. , Sullivan Patrick F. 
Published: August 2024

ImportanceSchizophrenia and bipolar disorder are highly heritable psychiatric disorders with strong genetic and phenotypic overlap. Twin and molecular methods can be leveraged to predict the shared genetic liability to these disorders.ObjectiveTo investigate whether twin concordance for psychosis depends on the level of polygenic risk score (PRS) for psychosis and zygosity and compare PRS from cases and controls from several large samples and estimate the twin heritability of psychosis.Design, Setting, and ParticipantsIn this case-control study, psychosis PRS were generated from a genome-wide association study (GWAS) combining schizophrenia and bipolar disorder into a single psychosis phenotype and compared between cases and controls from the Schizophrenia and Bipolar Twin Study in Sweden (STAR) project. Further tests were conducted to ascertain if twin concordance for psychosis depended on the mean PRS for psychosis. Structural equation modeling was used to estimate heritability. This study constituted an analysis of existing clinical and population datasets with genotype and/or twin data. Included were twins from the STAR cohort and from the Swedish Twin Registry. Data were collected during the 2006 to 2013 period and analyzed from March 2023 to June 2024.ExposuresPRS for psychosis based on the most recent GWAS of combined schizophrenia/bipolar disorder.Main Outcomes and MeasuresPsychosis case status was assessed by clinical interviews and/or Swedish National Register data.ResultsThe final cohort comprised 87 pairs of twins with 1 or both affected and 59 unaffected pairs from the STAR project (for a total of 292 twins) as well as 443 pairs with 1 or both affected and 20 913 unaffected pairs from the Swedish Twin Registry. Among the 292 twins (mean [SD] birth year, 1960 [10.8] years; 158 female [54.1%]; 134 male [45.9%]), 134 were monozygotic twins, and 158 were dyzygotic twins. PRS for psychosis was higher in cases than in controls and associated with twin concordance for psychosis (1-SD increase in PRS, odds ratio [OR], 2.12; 95% CI, 1.23-3.87 on case status in monozygotic twins and OR, 2.74; 95% CI, 1.56-5.30 in dizygotic twins). The association between PRS for psychosis and concordance was not modified by zygosity. The twin heritability was estimated at 0.73 (95% CI, 0.30-1.00), which overlapped with the estimate in the full Swedish Twin Registry (0.69; 95% CI, 0.43-0.85).Conclusions and RelevanceIn this case-control study, using the natural experiment of twins, results suggest that twins with greater inherited liability for psychosis were more likely to have an affected co-twin. Results from twin and molecular designs largely aligned. Even as illness vulnerability is not solely genetic, PRS carried predictive power for psychosis even in a modest sample size.
Initial stiffness estimation method for wooden house considering non‐structural elements using design information and microtremor measurement
Authors: Yoshitomi Shinta , Sada Takahiro , Habara Takuro 
Published: August 2024

AbstractIn this paper, a previously proposed method for story stiffness estimation of steel residential house is extended to estimate story stiffness of wooden residential houses considering non‐structural walls based on the available design information, that is, story weights, wall type, wall length, and wall opening type. Microtremor measurement data of several newly constructed buildings are used to determine unknown model parameters of stiffness estimation function, which minimize the estimation error of eigen frequency. The proposed method can simultaneously estimate the standard stiffness of wall element common to the same specification and the effects of wall opening and wall shape. The validity of the proposed method is examined by using measured actual microtremor records and drawing information of wall types and wall lengths of 19 wooden residential houses.
Promoting Surface Conduction through Scalable Structure Engineering of Flexible Topological Insulator Thin Films
Authors: Moreira Mafalda , Pires Ana L. , Ferreira‐Teixeira Sofia , Iurkevich Oksana , Vilarinho Rui , Castro Eduardo V. , Pereira André M. 
Published: August 2024

AbstractSpintronics, micro/nanofabrication, and the semiconductor industry are undergoing significant transformations, highlighting the need for flexible technologie. This study examines the possibility of integrating topological insulators (TIs), specifically Bi2Te3 thin films (13–191 nm), into flexible spintronic applications through scalable magneto‐sputtering techniques, and investigates how structural organization influences electrical and topological properties through post‐thermal annealing. Films annealed above 250 °C display improved polycrystalline structure, larger crystallites, fewer local defects, and higher a room‐temperature Seebeck coefficient (S) and resistivity (ρ), suggesting decreased bulk electronic contributions. A metastable transport regime is identified in the temperature‐dependent resistivity of films annealed at 300 °C between 20–100 K; in this range, the thinnest film exhibits markedly metallic behavior, signaling the presence of topological surface states (TSS). Magnetoresistance measurements of as‐grown and annealed films, between 3–20 K, demonstrate weak antilocalization. Applying the Hikami‐Larkin‐Nagaoka model, α‐coefficients are found to scale with thickness from 0.5–1, indicating thickness‐controlled coupling of the TSS. Post‐annealing at 300 °C, the phase coherence length, Lϕ, of the thinner films increases, while the temperature dephasing rate shifts from ∼0.7 (as‐grown) to ∼0.5 (post‐annealing), aligning with expected values for 2D TSS. These are encouraging findings for large‐scale manufacturing flexible TI technologies, without sacrificing tunabilit.
Metamorphic InGaAs/InAsPSb Quantum Well Light Emitting Diodes for Operation in the Short‐Wave Infrared Region
Authors: Park Suho , Nguyen Phuc Dinh , Kim Yeongho , Jeon Jiyeon , McCartney Martha R. , Smith David J. , Kim Minkyeong , Kim Dongwan , Chun Byong Sun , Lee Sang Jun 
Published: August 2024

AbstractSolid‐state infrared sources designed to emit wavelengths above 2 µm often face challenges in achieving high emission efficiency, minimizing power consumption, and reducing fabrication costs. In response, a 2.4 µm wavelength light emitting diode (LED) is developed using metamorphic In0.83Ga0.17As/InAs0.3P0.65Sb0.05 multiple quantum well (MQW) heterostructures. The substantial conduction (94 meV) and valence band offsets (300 meV) within this type‐I MQW LED architecture result in strong carrier confinement, improving electron and hole wavefunction overlap. Despite a notable lattice mismatch of 2.0% between the MQWs and InP substrate, the resulting LED wafer exhibits exceptionally low surface roughness (1.1 nm) and well‐defined, sharp interfaces within the heterostructures. Furthermore, this MQW LED exhibits favorable emission properties, including a low turn‐on field, minimal efficiency droop, and stable emission wavelength across varying injection currents. These advancements underscore the potential of such short‐wave infrared emitters for scalable applications in fields such as inspection, optical on‐chip communication, and biomedical diagnostics.
An Efficient Trifunctional Spinel‐Based Electrode for Oxygen Reduction/Evolution Reactions and Nonoxidative Ethane Dehydrogenation on Protonic Ceramic Electrochemical Cells
Authors: Xu Yangsen , Zhang Hua , Xu Kang , Zhang Xirui , Zhu Feng , Deng Wanqing , He Fan , Liu Ying , Chen Yu 
Published: August 2024

AbstractProtonic ceramic electrochemical cells (PCECs) have received considerable attention as they can directly generate electricity and/or produce chemicals. Development of the electrodes with the trifunctionalities of oxygen reduction/evolution and nonoxidative ethane dehydrogenation is yet challenging. Here these findings are reported in the design of trifunctional electrodes for PCECs with a detailed composition of Mn0.9Cs0.1Co2O4‐δ (MCCO) and Co3O4 (CO) (MCCO–CO, 8:2 mass ratio). At 600 °C, the MCCO–CO electrode exhibits a low area‐specific resistance of 0.382 Ω cm2 and reasonable stability for ≈105 h with no obvious degradation. The single cell with the MCCO–CO electrode shows an encouraging peak power density of 1.73 W cm−2 in the fuel cell (FC) mode and a current density of ‐3.93 A cm−2 at 1.3 V in the electrolysis cell (EC) mode at 700 °C. Moreover, the MCCO–CO cell displays promising operational stability in FC mode (223 h), EC mode (209 h), and reversible cycling stability (52 cycles, 208 h) at 650 °C. The MCCO–CO single cell shows an encouraging ethane conversion to ethylene (with a conversion of 40.3% and selectivity of 94%) and excellent H2 production rates of 4.65 mL min−1 cm−2 at 1.5 V and 700 °C, respectively, with reasonable Faradaic efficiencies.
Enabling Sustainable Ammonia Synthesis: From Nitrogen Activation Strategies to Emerging Materials
Authors: Li Wen‐Qian , Xu Miao , Chen Jie‐Sheng , Ye Tian‐Nan 
Published: August 2024

AbstractAmmonia (NH3) is one of the most important precursors of various chemicals and fertilizers. Given that ammonia synthesis via the traditional Haber–Bosch process requires high temperatures and pressures, it is critical to explore effective strategies and catalysts for ammonia synthesis under mild reaction conditions. Although electrocatalysis and photocatalysis can convert N2 to NH3 under mild conditions, their efficiencies and production scales are still far from the requirements for industrialization. Thermal catalysis has been proven to be the most direct and effective approach for ammonia synthesis. Over the past few decades, significant efforts have been made to develop novel catalysts capable of nitrogen fixation and ammonia generation via thermal catalytic processes. In parallel with catalyst exploration, new strategies such as self‐electron donation, hydride fixation, hydridic hydrogen reduction, and anionic vacancy promotion have also been explored to moderate the operating conditions and improve the catalytic efficiency of ammonia synthesis. In this review, the emergence of new materials and strategies for promoting N2 activation and NH3 formation during thermal catalysis is briefly summarized. Moreover, challenges and prospects are proposed for the future development of thermal catalytic ammonia synthesis.
A Biomimetic Autophagosomes‐Based Nanovaccine Boosts Anticancer Immunity
Authors: Qu Liping , Cui Guanhong , Sun Yinping , Ye Ruonan , Sun Yu , Meng Fenghua , Wang Shenqiang , Zhong Zhiyuan 
Published: August 2024

AbstractPersonalized cancer vaccines based on tumor cell lysates offer promise for cancer immunotherapy yet fail to elicit a robust therapeutic effect due to the weak immunogenicity of tumor antigens. Autophagosomes, obtained from pleural effusions and ascites of cancer patients, have been identified as abundant reservoirs of tumor neoantigens that exhibit heightened immunogenicity. However, their potential as personalized cancer vaccines have been constrained by suboptimal lymphatic‐targeting performances and challenges in antigen‐presenting cell endocytosis. Here,a reinforced biomimetic autophagosome‐based (BAPs) nanovaccine generated by precisely amalgamating autophagosome‐derived neoantigens and two types of adjuvants capable of targeting lymph nodes is developed to potently elicit antitumor immunity. The redox‐responsive BAPs facilitate cytosolic vaccine opening within antigen‐presenting cells, thereby exposing adjuvants and antigens to stimulate a strong immune response. BAPs evoke broad‐spectrum T‐cell responses, culminating in the effective eradication of 71.4% of established tumors. Notably, BAPs vaccination triggers enduring T‐cell responses that confer robust protection, with 100% of mice shielded against tumor rechallenge and a significant reduction in tumor incidence by 87.5%. Furthermore, BAPs synergize with checkpoint blockade therapy to inhibit tumor growth in the poorly immunogenic breast cancer model. The biomimetic approach presents a powerful nanovaccine formula with high versatility for personalized cancer immunotherapy.
Cu‐promoted Access to 1,4‐Diazine‐Fused Isoindoles Through Concomitant Csp3−N and Csp2−N Bonds Formation Starting from Constrained N,O‐acetals
Authors: Safi Christine , Othman Mohamed , Lawson Ata Martin , Moncol Ján , Oulyadi Hassan , Shova Sergiu , Waterlot Christophe , Ghinet Alina , Daïch Adam 
Published: August 2024

AbstractScarce dihydro‐1,4‐diazinoisoindole framework bearing two points of diversity was prepared through a cascade process based on concomitant Csp3−N and Csp2−N bond formation. This approach consists of an amidation in basic medium of a tosyl group by nucleophilic substitution followed by Cu‐mediated Goldberg reaction in the same operation. The required β‐bromoenamide bearing a tosyl group was obtained by tosylation of fused brominated N,O‐acetals for the first time in acidic medium using submolar amounts of PTSA. The obtained piperazines are useful building blocks as illustrated by the formation of a pentacyclic product via the intramolecular interception of the enamide function.
Blood‐based multivariate methylation risk score for cognitive impairment and dementia
Authors: Koetsier Jarno , Cavill Rachel , Reijnders Rick , Harvey Joshua , Homann Jan , Kouhsar Morteza , Deckers Kay , Köhler Sebastian , Eijssen Lars M. T. , van den Hove Daniel L. A. , Demuth Ilja , Düzel Sandra ,   for the Alzheimer's Disease Neuroimaging Initiative, Smith Rebecca G. , Smith Adam R. , Burrage Joe , Walker Emma M. , Shireby Gemma , Hannon Eilis , Dempster Emma , Frayling Tim , Mill Jonathan , Dobricic Valerija , Johannsen Peter , Wittig Michael , Franke Andre , Vandenberghe Rik , Schaeverbeke Jolien , Freund‐Levi Yvonne , Frölich Lutz , Scheltens Philip , Teunissen Charlotte E. , Frisoni Giovanni , Blin Olivier , Richardson Jill C. , Bordet Régis , Engelborghs Sebastiaan , de Roeck Ellen , Martinez‐Lage Pablo , Tainta Mikel , Lleó Alberto , Sala Isabel , Popp Julius , Peyratout Gwendoline , Verhey Frans , Tsolaki Magda , Andreasson Ulf , Blennow Kaj , Zetterberg Henrik , Streffer Johannes , Vos Stephanie J. B. , Lovestone Simon , Visser Pieter‐Jelle , Lill Christina M. , Bertram Lars , Lunnon Katie , Pishva Ehsan 
Published: August 2024

AbstractINTRODUCTIONThe established link between DNA methylation and pathophysiology of dementia, along with its potential role as a molecular mediator of lifestyle and environmental influences, positions blood‐derived DNA methylation as a promising tool for early dementia risk detection.METHODSIn conjunction with an extensive array of machine learning techniques, we employed whole blood genome‐wide DNA methylation data as a surrogate for 14 modifiable and non‐modifiable factors in the assessment of dementia risk in independent dementia cohorts.RESULTSWe established a multivariate methylation risk score (MMRS) for identifying mild cognitive impairment cross‐sectionally, independent of age and sex (P = 2.0 × 10−3). This score significantly predicted the prospective development of cognitive impairments in independent studies of Alzheimer's disease (hazard ratio for Rey's Auditory Verbal Learning Test (RAVLT)‐Learning = 2.47) and Parkinson's disease (hazard ratio for MCI/dementia = 2.59).DISCUSSIONOur work shows the potential of employing blood‐derived DNA methylation data in the assessment of dementia risk.Highlights
We used whole blood DNA methylation as a surrogate for 14 dementia risk factors.
Created a multivariate methylation risk score for predicting cognitive impairment.
Emphasized the role of machine learning and omics data in predicting dementia.
The score predicts cognitive impairment development at the population level.
How fiber bundle alterations differ in presumed LATE and amnestic Alzheimer's disease
Authors: Lebrun Aurélie , Leprince Yann , Lagarde Julien , Olivieri Pauline , Moussion Martin , Noiray Camille , Bottlaender Michel , Sarazin Marie 
Published: August 2024

AbstractINTRODUCTIONTypical Alzheimer's disease (AD) and limbic‐predominant age‐related TAR DNA‐binding protein 43 (TDP‐43) encephalopathy (LATE) are two neurodegenerative diseases that present with a similar initial amnestic clinical phenotype but are associated with distinct proteinopathies.METHODSWe investigated white matter (WM) fiber bundle alterations, using fixel‐based analysis, a state‐of‐the‐art diffusion magnetic resonance imaging model, in early AD, presumed LATE, and controls. We also investigated regional cortical atrophy.RESULTSBoth amnestic AD and presumed LATE patients exhibited WM alterations in tracts of the temporal and limbic lobes and in callosal fibers connecting superior frontal gyri. In addition, presumed LATE patients showed alterations in callosal fibers connecting the middle frontal gyri and in the cerebello–thalamo–cortical tract. Cortical thickness was reduced in regions connected by the most altered tracts.DISCUSSIONThese findings, the first to describe WM fiber bundle alterations in presumed LATE, are consistent with results on cortical atrophy and with the staging system of tau or TDP‐43 accumulation.Highlights
Fixel‐based analysis revealed white matter (WM) fiber bundle alterations in presumed limbic‐predominant age‐related TAR DNA‐binding protein 43 encephalopathy (LATE) patients identified by isolated episodic/limbic amnesia, the absence of positive Alzheimer's disease (AD) biomarkers, and no other neurological diagnosis after 2 years of follow‐up.
Presumed LATE and amnestic AD shared similar patterns of WM alterations in fiber bundles of the limbic and temporal lobes, in congruence with their similar limbic cognitive phenotype.
Presumed LATE differed from AD by the alteration of the callosal fibers connecting the middle frontal gyri and of the cerebello–thalamo–cortical tract.
WM fiber bundle alterations were consistent with results on regional cortical atrophy.
The different anatomical patterns of WM degeneration could provide information on the propagation pathways of distinct proteinopathies.
Alzheimer's disease CSF biomarkers correlate with early pathology and alterations in neuronal and glial gene expression
Authors: Ropri Ali S. , Lam Tiffany G. , Kalia Vrinda , Buchanan Heather M. , Bartosch Anne Marie W. , Youth Elliot H. H. , Xiao Harrison , Ross Sophie K. , Jain Anu , Chakrabarty Jayanta K. , Kang Min Suk , Boyett Deborah , Spinazzi Eleonora F. , Iodice Gail , McGovern Robert A. , Honig Lawrence S. , Brown Lewis M. , Miller Gary W. , McKhann Guy M. , Teich Andrew F. 
Published: August 2024

AbstractINTRODUCTIONNormal pressure hydrocephalus (NPH) patients undergoing cortical shunting frequently show early Alzheimer's disease (AD) pathology on cortical biopsy, which is predictive of progression to clinical AD. The objective of this study was to use samples from this cohort to identify cerebrospinal fluid (CSF) biomarkers for AD‐related central nervous system (CNS) pathophysiologic changes using tissue and fluids with early pathology, free of post mortem artifact.METHODSWe analyzed Simoa, proteomic, and metabolomic CSF data from 81 patients with previously documented pathologic and transcriptomic changes.RESULTSAD pathology on biopsy correlates with CSF β‐amyloid‐42/40, neurofilament light chain (NfL), and phospho‐tau‐181(p‐tau181)/β‐amyloid‐42, while several gene expression modules correlate with NfL. Proteomic analysis highlights seven core proteins that correlate with pathology and gene expression changes on biopsy, and metabolomic analysis of CSF identifies disease‐relevant groups that correlate with biopsy data.DISCUSSIONAs additional biomarkers are added to AD diagnostic panels, our work provides insight into the CNS pathophysiology these markers are tracking.Highlights
AD CSF biomarkers correlate with CNS pathology and transcriptomic changes.
Seven proteins correlate with CNS pathology and gene expression changes.
Inflammatory and neuronal gene expression changes correlate with YKL‐40 and NPTXR, respectively.
CSF metabolomic analysis identifies pathways that correlate with biopsy data.
Fatty acid metabolic pathways correlate with β‐amyloid pathology.