bluuebunny/crossref_metadata_2025_split huggingface dataset:
The shared genetic basis of mood instability and psychiatric disorders: A cross‐trait genome‐wide association analysis
Authors: Hindley Guy , O'Connell Kevin S. , Rahman Zillur , Frei Oleksandr , Bahrami Shahram , Shadrin Alexey , Høegh Margrethe C. , Cheng Weiqiu , Karadag Naz , Lin Aihua , Rødevand Linn , Fan Chun C. , Djurovic Srdjan , Lagerberg Trine V. , Dale Anders M. , Smeland Olav B. , Andreassen Ole A. 
Published: July 2022

AbstractRecent genome‐wide association studies of mood instability (MOOD) have found significant positive genetic correlation with major depression (DEP) and weak correlations with other psychiatric disorders. We investigated the polygenic overlap between MOOD and psychiatric disorders beyond genetic correlation to better characterize putative shared genetic determinants. GWAS summary statistics for schizophrenia (SCZ, n = 105,318), bipolar disorder (BIP, n = 413,466), DEP (n = 450,619), attention‐deficit hyperactivity disorder (ADHD, n = 53,293), and MOOD (n = 363,705) were analyzed using the bivariate causal mixture model and conjunctional false discovery rate methods. MOOD correlated positively with all psychiatric disorders, but with wide variation in strength (rg = 0.10–0.62). Of 10.4 K genomic variants influencing MOOD, 4 K–9.4 K influenced psychiatric disorders. Furthermore, MOOD was jointly associated with DEP at 163 loci, SCZ at 110, BIP at 60 and ADHD at 25. Fifty‐three jointly associated loci were overlapping across two or more disorders, seven of which had discordant effect directions on psychiatric disorders. Genes mapped to loci associated with MOOD and all four disorders were enriched in a single gene‐set, “synapse organization.” The extensive polygenic overlap indicates shared molecular underpinnings across MOOD and psychiatric disorders. However, distinct patterns of genetic correlation and effect directions may relate to differences in the core clinical features of each disorder.
A phenome‐wide association study of polygenic scores for attention deficit hyperactivity disorder across two genetic ancestries in electronic health record data
Authors: Niarchou Maria , Sealock Julia M. , Straub Peter , Sanchez‐Roige Sandra , Sutcliffe James S. , Davis Lea K. 
Published: July 2022

AbstractTesting the association between genetic scores for Attention Deficit Hyperactivity Disorder (ADHD) and health conditions, can help us better understand its complex etiology. Electronic health records linked to genetic data provide an opportunity to test whether genetic scores for ADHD correlate with ADHD and additional health outcomes in a health care context across different age groups. We generated polygenic scores (ADHD‐PGS) trained on summary statistics from the latest genome‐wide association study of ADHD (N = 55,374) and applied them to genome‐wide data from 12,383 unrelated individuals of African‐American ancestry and 66,378 unrelated individuals of European ancestry from the Vanderbilt Biobank. Overall, only Tobacco use disorder (TUD) was associated with ADHD‐PGS in the African‐American ancestry group (Odds ratio [95% confidence intervals] = 1.23[1.16–1.31], p = 9.3 × 10−09). Eighty‐six phenotypes were associated with ADHD‐PGS in the European ancestry individuals, including ADHD (OR[95%CIs] = 1.22[1.16–1.29], p = 3.6 × 10−10), and TUD (OR[95%CIs] = 1.22[1.19–1.25], p = 2.8 × 10−46). We then stratified outcomes by age (ages 0–11, 12–18, 19–25, 26–40, 41–60, and 61–100). Our results suggest that ADHD polygenic scores are associated with ADHD diagnoses early in life and with an increasing number of health conditions throughout the lifespan (even in the absence of ADHD diagnosis). This study reinforces the utility of applying trait‐specific PGSs to biobank data, and performing exploratory sensitivity analyses, to probe relationships among clinical conditions.
Childhood stress and developmental instability: Comparing microscopic enamel defects and cranial fluctuating asymmetry in a colonial Mexican sample
Authors: Moes Emily , Willermet Cathy , Hunley Keith , Ragsdale Corey , Edgar Heather J. H. 
Published: July 2022

AbstractObjectivesRecent tests of the relationship between enamel defects, an indicator of early life stress, and fluctuating asymmetry (FA), a measure of cumulative developmental instability, have produced equivocal results. This may be because they use methods that underestimate the number of defects. We reinvestigate this relationship using high‐resolution microscopy images of tooth surfaces. Further, we test the hypothesis that developmental stresses during the earliest period of tooth development have a greater impact on FA than stresses during subsequent periods.Materials and MethodsThe sample consists of 48 individuals from two colonial‐era cemeteries in Mexico City. Using one canine from each individual, we created photomontages using a 2D light microscope. Tooth crowns were divided into three developmental periods. Defects were identified as widely spaced perikymata using moving z‐scores. We compared defect presence, frequency, and timing to FA calculated from 11 landmarks using geometric morphometrics from 3D models of each cranium.ResultsBoth the presence and frequency of enamel defects are significantly associated with an increase in FA. Contrary to our expectations, defects that formed in the latest developmental period (4–5.5 years) were uniquely associated with an increase in FA, relative to the other two periods.DiscussionThe presence and frequency of stress during childhood increases developmental instability. The time between 4 and 5.5 years may be a sensitive window of development in which disruptions to growth have a long‐lasting effect on developmental instability. Results indicate that research on developmental stress should consider the timing and frequency of stress events to more fully understand their impact on later life.
Dementia prevention: The potential long‐term cost‐effectiveness of the FINGER prevention program
Authors: Wimo Anders , Handels Ron , Antikainen Riitta , Eriksdotter Maria , Jönsson Linus , Knapp Martin , Kulmala Jenni , Laatikainen Tiina , Lehtisalo Jenni , Peltonen Markku , Sköldunger Anders , Soininen Hilkka , Solomon Alina , Strandberg Timo , Tuomilehto Jaakko , Ngandu Tiia , Kivipelto Miia 
Published: July 2022

AbstractIntroductionThe aim of this study was to estimate the potential cost‐effectiveness of the Finnish Geriatric Intervention Study to Prevent Cognitive Impairment and Disability (FINGER) program.MethodsA life‐time Markov model with societal perspective, simulating a cohort of people at risk of dementia reflecting usual care and the FINGER program.ResultsCosts were 1,653,275 and 1,635,346 SEK and quality‐adjusted life years (QALYs) were 8.636 and 8.679 for usual care and the FINGER program, respectively, resulting in savings of 16,928 SEK (2023 US$) and 0.043 QALY gains per person, supporting extended dominance for the FINGER program. A total of 1623 dementia cases were avoided with 0.17 fewer person‐years living with dementia. The sensitivity analysis confirmed the conclusions in most scenarios.DiscussionThe model provides support that programs like FINGER have the potential to be cost‐effective in preventing dementia. Results at the individual level are rather modest, but the societal benefits can be substantial because of the large potential target population.
Differences in the measurement of cognition for the assessment of dementia across geographic contexts: Recommendations for cross‐national research
Authors: Nichols Emma , Ng Derek K. , Hayat Shablina , Langa Kenneth M. , Lee Jinkook , Steptoe Andrew , Deal Jennifer A. , Gross Alden L. 
Published: July 2022

AbstractIntroductionMost cognitive assessments have been developed in high‐income countries but are used in diverse contexts. Differences in culture and context may affect the performance of cognitive items.MethodsWe used the Harmonized Cognitive Assessment Protocol (HCAP) surveys in the United States, Mexico, India, England, and South Africa (combined N = 11,364) to quantify associations across countries between cognitive items and cognitive impairment status using age‐ and sex‐adjusted logistic regression.ResultsAssociations were stronger in the United States (median odds ratio [OR] across items = 0.17) and England (median OR = 0.19), compared to South Africa (median OR = 0.23), India (median OR = 0.29), and Mexico (median OR = 0.28). Items assessing memory (e.g., delayed recall tasks) had the most consistent associations of the largest magnitudes across contexts.DiscussionTransporting cognitive items among countries and cultures warrants caution. Our results can guide the design of future instruments by identifying items that performed well either in individual contexts or across the range of contexts considered.HIGHLIGHTS
Little quantitative evidence exists to guide the design of cognitive assessments in cross‐national studies.
The performance of cognitive items for the measurement of dementia varied across countries.
Items with lower variation across countries (e.g., delayed word recall) should be used in future cross‐national assessments.
Across countries, there was variability in the performance of language assessments, with the exception of the animal naming task.
Results can be used to design future cross‐national or location‐specific cognitive assessments.
A Dihydroazulene‐Based Photofluorochromic AIE System for Rewritable 4D Information Encryption
Authors: Zhang Jianyu , Shen Hanchen , Liu Xinyue , Yang Xueqin , Broman Søren Lindbæk , Wang Haoran , Li Qiyao , Lam Jacky W. Y. , Zhang Haoke , Cacciarini Martina , Nielsen Mogens Brøndsted , Tang Ben Zhong 
Published: July 2022

AbstractDynamic patterns based on luminescent materials play an essential role in the digital age. However, it is still challenging to develop highly emissive photofluorochromic materials with dynamic behaviors to store information with multiple characteristics. Here, we report a series of dihydroazulene‐based compounds which show typical aggregation‐induced emission (AIE) effect. Moreover, the photo‐switching ability of the dihydroazulene units, undergoing light‐induced ring‐opening, enables photofluorochromic properties. The photofluorochromism also shows quantitively described responses to time and temperature via a reverse ring‐closing process. Ultimately, a rewritable 4D information system, embedded with a quick response code, dot matrix with microstructures, color matrix of fluorescence, and time/temperature‐dependent intensity change, is established with dynamic patterns. This work not only develops a dynamic AIE skeleton with photofluorochromic properties but also provides a new strategy for information encryption and cybernetics.
The oldest evidence of Testudo graeca (Testudinidae) in the Iberian Peninsula
Authors: Boneta Jiménez Iratxe , Pérez‐García Adán , Liesau von Lettow‐Vorbeck Corina 
Published: July 2022

AbstractThe Testudo graeca (i.e., Greek Tortoise or Spur‐thighed Tortoise) origin in Western Europe is a subject of debate within the scientific community. The species is a part of the current Spanish biodiversity, with three isolated populations, located in the south‐eastern (Almeria and Murcia) and south‐western (Doñana National Park, Andalusia) areas of the Iberian Peninsula, and in the Mallorca Island (Balearic Islands). Throughout the 19th and 20th centuries, putative references to the presence of Testudo graeca in the Iberian paleontological and archaeozoological records were relatively common. However, many of them were refuted in subsequent papers and, those that were not, are currently considered as doubtful. The aim of this work is to present and describe the oldest indisputable remains of Testudo graeca in the Iberian Peninsula. They correspond to several individuals, hitherto unpublished, recovered as grave goods in two tombs at the Plaza Marqués de Busianos 5 site (Valencia, eastern Spain), dated between the first and second centuries AD.
Hydrogen Generation from Organic Hydrides under Continuous‐Flow Conditions Using Polymethylphenylsilane‐Aluminum Immobilized Platinum Catalyst
Authors: Miyamura Hiroyuki , Suzuki Aya , Zhu Zhiyuan , Kobayashi Shū 
Published: July 2022

AbstractHydrogen is an important resource for realizing the goal of a hydrogen‐based society as well as for synthetic organic chemistry. Catalytic dehydrogenation of organic hydrides such as methyl cyclohexane is attractive for hydrogen storage and transportation in terms of reversibility and selectivity of catalytic reactions and hydrogen storage density. We developed a highly active polymethylphenylsilane‐aluminum immobilized platinum catalyst (Pt/MPPSi‐Al2O3) for dehydrogenation of organic hydrides. Organic hydrides were fully converted into the corresponding aromatic compounds under reactive distillation conditions at 200 °C or under circulation‐flow conditions using the Pt/MPPSi‐Al2O3 catalyst packed in a column at 260 °C. The dehydrogenation reaction reached a maximum conversion at equilibrium (ca. 60%) under continuous‐flow conditions at 260 °C. This catalytic continuous‐flow dehydrogenation was applied to a formal hydrogen transfer from organic hydrides to unsaturated organic substrates under sequential and continuous‐flow conditions for practical flow hydrogenation reactions by connecting two different heterogeneous catalysts packed in columns.
HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
Authors: Chuanfen Li , Xiaoling Wang , Wen Jing , Bingzhen Cao , Min Wang 
Published: July 2022

AbstractAimsCerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a life‐threatening, inherited, nonhypertensive arteriole disease of the brain. Therapeutic strategy for CARASIL is limited because its pathogenesis is not clear. We previously reported the first family with CARASIL in China, which involves a high‐temperature requirement serine protease gene mutation (HtrA1L364P). Based on this previous study, we constructed a CARASIL mouse model (Mut‐hHtrA1L364P mouse, hereinafter referred to as Mut). This paper aimed to systematically study the behavior, pathology, and molecular biology of Mut mice and explore the pathogenesis and possible therapeutic strategies of CARASIL.MethodsFood maze and water maze experiments were used in the behavioral studies. Pathological studies were carried out by arteriole labeling staining and electron microscopy. The mRNA and protein expression levels of the key factors of TGF‐β/Smad signaling pathway (TGF‐β, Smad2, Smad3, and Smad4) in the brain of the model mice were detected by immunohistochemistry, real‐time quantitative polymerase chain reaction (RT‐PCR), and Western blot assay.ResultsThe food maze and water maze experiment data showed significant differences between the Mut and wild‐type (WT) mice in the first time to find food, the time to contact the escape table for the first time, and the number of times to travel in the escape table quadrant (p < 0.001). The results of vascular labeling staining showed that some small arteries in the brain of Mut mice lost normal structure. The results of electron microscopy showed that the cell morphologies in the cortex and hippocampus of Mut mice were abnormal; the number of synapses was reduced; the walls of capillaries, venules, and arterioles thickened; lumen stenosis and other abnormal phenomenon occurred; and lipofuscin deposition and autophagosomes were found in the hippocampus. Immunohistochemistry, RT‐PCR, and Western Blot results showed that the mRNA and protein expression levels of TGF‐β, Smad2, and Smad3 in the brain of Mut mice increased to different degrees.ConclusionsThe most significant innovation of this study is the first study on the pathogenesis of CARASIL disease using model animals. The Mut mice can well simulate the pathogenesis of CARASIL in behavioral and pathological aspects. The TGF‐β/Smad signaling pathway, which is involved in the pathogenesis of CARASIL, is abnormally upregulated in the brain of Mut mice.
Kidney disease in very long‐term survivors of Wilms tumor: A nationwide cohort study with sibling controls
Authors: Høgsholt Stine , Asdahl Peter Haubjerg , Rechnitzer Catherine , Winther Jeanette Falck , Birn Henrik , Hasle Henrik 
Published: July 2022

AbstractBackgroundSurvival after Wilms tumor has significantly increased and focus on late effects has become increasingly important. However, knowledge about long‐term renal function in survivors of Wilms tumor is missing. Our aim was to investigate evidence of kidney disease in 20‐ or more‐year survivors of Wilms tumor in a clinical setting, with siblings as comparisons.MethodsIn this cross‐sectional study, we established a cohort of Danish 20‐plus‐year survivors of Wilms tumor and siblings as controls. Participants answered a comprehensive health questionnaire supplemented by measurements of estimated glomerular filtration rate (eGFR), urine albumin‐to‐creatinine ratio, and blood pressure and were categorized according to the chronic kidney disease classification. Multiple linear regression analysis, taking family membership into account, was used to describe the differences in eGFR. Logistic regression analysis was performed to describe risk factors for the development of kidney disease.ResultsWe included 99 survivors of Wilms tumor and 38 sibling controls with a median of 37 years of follow‐up. The eGFR of Wilms tumor survivors was 13 ml/min/1.73 m2 (95% CI –20; −5) lower when compared to sibling control. Evidence of kidney disease, with risk factors as hypertension and diabetes, was found in 19% of the Wilms tumor survivors and 2% developed end‐stage renal disease. Ninety‐two percent of the Wilms tumor survivors had an eGFR >60 ml/min/1.732.ConclusionLong‐term Wilms tumor survivors have on average a significantly decreased renal function along with the increased prevalence of kidney disease and end‐stage renal disease when compared to sibling controls. Still, most survivors had kidney function within the normal range.
Development and validation of tumor‐size‐stratified prognostic nomograms for patients with uterine sarcoma: A SEER database analysis
Authors: Cao Shiyu , Liao Xianzhen , Xu Kekui , Xiao Haifan , Shi Zhaohui , Zou Yanhua , Li Can , Hu Yingyun , Yan Shipeng 
Published: July 2022

AbstractBackgroundTumor‐size‐stratified analysis on the prognosis of uterine sarcoma is insufficient. This study aimed to establish the tumor‐size‐stratified nomograms to predict the 3‐ and 5‐year overall survival (OS) of patients with uterine sarcoma.MethodsThe data analyzed in this study were obtained from the Surveillance, Epidemiology, and End Results (SEER) database. We collected data from patients with uterine sarcoma diagnosed between 2004 and 2015. According to the median tumor size of 7.8 cm, the enrolled patients were divided into two tumor size (TS) groups: TS <7.8 cm and TS ≥7.8 cm. Patients in each group were randomly divided into the training and validation cohorts with a ratio of 7:3. Chi‐square test was used to compare differences between categorical variables. Multivariate Cox regression models were used to identify significant predictors. We calculated the concordance index (C‐index) and the area under the receiver operating characteristics curve (AUC) to validate the nomograms.ResultsCompared with TS <7.8 cm group, TS ≥7.8 cm group had more patients of 45–64 years group, higher black race prevalence, higher proportion of myometrium tumor, higher stage, and higher grade; In the TS <7.8 cm training cohort, six variables (age, race, marital status, tumor primary site, stage, and grade) were identified as significantly associated with OS in multivariate analysis. However in the TS ≥7.8 cm training cohort, only four variables (surgery on primary site, tumor size, stage, and grade) were significantly identified; The C‐index of two nomograms were 0.80 and 0.73 in training cohorts, respectively, and the AUC values for 3‐ and 5‐year OS predictions in training cohorts were all above 0.80. Similar results were observed in validation cohorts.ConclusionsThis study found that the significant prognostic factors were different between two tumor size groups of uterine sarcoma patients. The tumor‐size‐stratified nomograms, which we constructed and validated, might be useful to predict the probability of survival for patients with uterine sarcoma.
Potential Chemoprevention of Paeoniflorin in Colitis‐Associated Colorectal Cancer by Network Pharmacology, Molecular Docking, and In Vivo Experiment
Authors: Si Xiao‐Li , Wang Yan , Song Bo‐Ni , Zhang Yan , Yang Qing‐Xia , Li Zhi , Luo Yan‐Ping , Duan Yong‐Qiang , Ma Xing‐Ming , Zhang Yan‐Ying 
Published: July 2022

AbstractChronic inflammation plays a positive role in the development and progression of colitis‐associated colorectal cancer (CAC). Medicinal plants and their extracts with anti‐inflammatory and immunoregulatory properties may be an effective treatment and prevention strategy for CAC. This research aimed to explore the potential chemoprevention of paeoniflorin (PF) for CAC by network pharmacology, molecular docking technology, and in vivo experiments. The results showed that interleukin‐6 (IL‐6) is a key target of PF against CAC. In the CAC mouse model, PF increased the survival rate of mice and decreased the number and size of colon tumors. Moreover, reduced histological score of colitis and expression of Ki‐67 and PCNA were observed in PF‐treated mice. In addition, the chemoprevention mechanisms of PF in CAC may be associated with suppression of the IL‐6/STAT3 signaling pathway and the IL‐17 level. This research provides experimental evidence of potential chemoprevention strategies for CAC treatment.
Multi‐objective optimization of drainage‐plates in wave‐plate mist eliminators using experiment and data‐driven modelling for lower water loss and energy requirement
Authors: Tang Ya , Xu Yuting , He Chang , Shu Yidan , Zhang Bing Jian , Chen Qing Lin 
Published: July 2022

AbstractWave‐plate mist eliminators are widely employed as gas–liquid separation devices to prevent the liquid escaping from thermal power plants or other cooling towers. In this study, the wave‐plate mist eliminator with drainage plates was numerically analyzed and the effects between geometrical variables on two objectives, namely, pressure drop (ΔP) and separation efficiency (η), were revealed. Plate spacing, width, and length, as well as the relative position of the drainage plate, were thoroughly investigated. A combined strategy was developed for multi‐objective optimization of the wave‐plate mist eliminator by integrating computational fluid dynamics (CFD) simulation, response surface methodology (RSM), non‐dominated sorting genetic algorithm‐II (NSGA‐II), and a technique for order of preference by similarity to ideal solution (TOPSIS) method. The results demonstrated that the relative position of drainage plates has a greater impact on the overall performance, whereas the width of drainage plates has the minimum effect. With the implementation of NSGA‐II and the TOPSIS method, an optimal solution for the design of the mist eliminator was obtained. After comparing with the baseline case, the optimized case presents promising characteristics with high separation efficiency (enhanced by 3.6%~9.06%) and a low energy consumption coefficient (reduced by 72.30% at η = 45%).