bluuebunny/crossref_metadata_2025_split huggingface dataset:
Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype
Authors: Ewing Adam D. , Cheetham Seth W. , McGill James J. , Sharkey Michael , Walker Rick , West Jennifer A. , West Malcolm J. , Summers Kim M. 
Published: May 2021

AbstractBasal cell nevus syndrome (also known as Gorlin Syndrome; MIM109400) is an autosomal dominant disorder characterized by recurrent pathological features such as basal cell carcinomas and odontogenic keratocysts as well as skeletal abnormalities. Most affected individuals have point mutations or small insertions or deletions within the PTCH1 gene on human chromosome 9, but there are some cases with more extensive deletion of the region, usually including the neighboring FANCC and/or ERCC6L2 genes. We report a 16‐year‐old patient with a deletion of approximately 400,000 bases which removes only PTCH1 and some non‐coding RNA genes but leaves FANCC and ERCC6L2 intact. In spite of the small amount of DNA for which he is haploid, his phenotype is more extreme than many individuals with longer deletions in the region. This includes early presentation with a large number of basal cell nevi and other skin lesions, multiple jaw keratocysts, and macrosomia. We found that the deletion was in the paternal chromosome, in common with other macrosomia cases. Using public databases, we have examined possible interactions between sequences within and outside the deletion and speculate that a regulatory relationship exists with flanking genes, which is unbalanced by the deletion, resulting in abnormal activation or repression of the target genes and hence the severity of the phenotype.
Death rates in the U.S. due to Leukodystrophies with pediatric forms
Authors: Barczykowski Amy L. , Langan Thomas J. , Vanderver Adeline , Jalal Kabir , Carter Randy L. 
Published: May 2021

AbstractTo use national mortality and state death certificate records to estimate disease specific mortality rates among pediatric and adult populations for 23 leukodystrophies (LDs) with pediatric forms. Additionally, to calculate yearly prevalence and caseload of the most severe LD cases that will eventually result in pediatric death (i.e., pediatric fatality cases). Death certificate records describing cause of death were collected from states based on 10 ICD‐10 codes associated with the 23 LDs. Deaths in the U.S. with these codes were distributed into categories based on proportions identified in state death certificate data. Mortality rates, prevalence, and caseload were calculated from resulting expected numbers, population sizes, and average lifetimes. An estimated 1.513 per 1,000,000 0–17 year old's died of these LDs at average age 5.2 years and 0.194 for those ≥18 at an average age of 42.3 years. Prevalence of pediatric fatality cases of these LDs declined from 1999 through 2007 and then remained constant at 6.2 per million children per year through 2012. Epidemiological information, currently lacking for rare diseases, is useful to newborn screening programs, research funding agencies, and care centers for LD patients. Methods used here are generally useful for studying rare diseases.
Bamboo‐like π‐Nanotubes with Tunable Helicity and Circularly Polarized Luminescence
Authors: Wang Yuan , Wan Kaiwei , Pan Fei , Zhu Xuefeng , Jiang Yuqian , Wang Hui , Chen Yuli , Shi Xinghua , Liu Minghua 
Published: May 2021

AbstractWe report the fabrication of an exotic bamboo‐like π‐nanotube via the hierarchical self‐assembly of a dipeptide‐substituted naphthalenediimide gelator with tunable helicity and circularly polarized luminescence (CPL). It was found that in the presence of trifluoroacetic acid (TFA) the gelator molecules self‐assembled into a bamboo‐like π‐nanotube, which is composed of truncated nanocones and CPL active. When defining the diameter ratio of the lower to upper edge of each nanocone as a parameter to express the helicity of different nanotubes, it was found that both the helicity and CPL of these nanotubes can be adjusted by the amount of TFA. Moreover, the helicity of the nanotube can be conveyed to the achiral quantum dots (QDs) and produce a hybrid nanotube/QDs CPL active materials with adjustable dissymmetry factor. This work finds a new type self‐assembled bamboo‐like π‐nanotube and unveils their helicity and CPL control.
Reply to a Comment on “The Nature of Chalcogen‐Bonding‐Type Tellurium–Nitrogen Interactions”
Authors: Vishnevskiy Yury V. , Mitzel Norbert W. 
Published: May 2021

AbstractWe reply to the comment by J.‐M. Mewes, A. Hansen and S. Grimme (MHG), who challenged the accuracy of our re value for the N⋅⋅⋅Te distance in (C6F5)Te(CH2)3NMe2 determined by gas electron diffraction (GED). We conclusively demonstrate that MHG′s quoted reference calculations are less accurate than they claim for solid state and gas phase. We show by higher level calculations, that we did not miss substantial contributions from open‐chain conformers. Refinements on simulated scattering data show that such contributions would have had only an almost negligible effect on re(N⋅⋅⋅Te). MHG suggested the use of a H0‐tuned GFN method for calculating vibrational corrections ra−re, but this did not change these values substantially. Alternative amplitude calculations using higher level analytic harmonic and numeric cubic force fields (PBE0‐D3BJ/def2‐TZVP) yield a GED value for re(N⋅⋅⋅Te)=2.852(25) Å that is well within the experimental error of our original value 2.918(31) Å but far from the 2.67(8) Å predicted by MHG. A now improved error estimation accounts for inaccuracies in the calculated auxiliary values. The gas/solid difference of the weak N⋅⋅⋅Te interaction is in a realistic range compared to other systems involving weak chemical interactions.
Local government performance and democratic consolidation: Explaining ordinance proposal in Busan Metropolitan Council
Authors: Lee Byung‐Jae , Kim Tae Wan , Suh Jaekwon , Yap O. Fiona 
Published: May 2021

AbstractThis article assesses the role of local councils as a conduit for democratic consolidation through the examination of the legislative performance of the members of a South Korean metropolitan city council. We collected data on ordinance proposals in Busan Metropolitan Council from 2006 to 2018 (the 5th to 7th Councils) and analysed, first, the effects of individual attributes of local council members on legislative performance through negative binomial model analysis and, second, the effects of legislative networks on council members' performance. Three findings contribute to the literature: first, the number of proposed ordinances by council members increased over time, while those by the mayor decreased in the same period, suggesting an erosion of executive dominance of policymaking in local councils. Second, female and newly elected council members are most active in legislative proposals, which underlines that these members are more connected to the electorate than long‐serving incumbents. Third, network analyses show increasingly diverse and multi‐centred communities behind ordinance proposals; this suggests a move from personalistic politics to institutionalised politics.
Peri‐urbanisation in Papua: A participatory and geospatial impact assessment of peri‐urban development and transmigration in Port Numbay
Authors: Korwa Johni R. V. , Metherall Nicholas , Rumabar Barrisen , Mampioper John Herman , Ranathunga Tironi 
Published: May 2021

AbstractThis article aims to shed light on the impacts of peri‐urbanisation processes across two case studies in Port Numbay within the Province of Papua. Five methods were used to gather data: focus group discussions, semi‐structured interviews, archival research, ethnographic observations, and remote sensing imagery and geospatial analysis tools. The results generated insights into: (1) the lasting legacy of historical transmigration and decentralisation policies that have influenced the processes of peri‐urbanisation in shaping the social and economic conditions within peripheral communities; (2) how peri‐urbanisation has impacted biophysical environments including social‐ecological systems and environmental health systems; (3) a range of peri‐urbanisation trends (land clearing, deforestation and expansion of settlements over time). The article tests an interdisciplinary method for monitoring processes of peri‐urbanisation. It concludes that approaches to decentralisation, health service delivery and sustainable development interventions into peri‐urban zones should consider local conditions. Recommendations for policy and further research are also provided.
Formation of Dehydrohexahydroxydiphenoyl Esters by Oxidative Coupling of Galloyl Esters in an Aqueous Medium Involved in Ellagitannin Biosynthesis
Authors: Yamashita Takako , Matsuo Yosuke , Saito Yoshinori , Tanaka Takashi 
Published: May 2021

AbstractHexahydroxydiphenoyl (HHDP) and dehydrohexahydroxydiphenoyl (DHHDP) groups are the major acyl components of ellagitannins, which are polyphenols whose biosynthesis have attracted considerable attention; however, the mechanisms of the production of HHDP and DHHDP in the ellagitannin biosynthesis have not been clarified. With the aim of elucidating such a mechanism, this study investigates the CuCl2‐mediated oxidation of simple galloyl derivatives in an aqueous medium. It is shown that the oxidation of methyl gallate affords a DHHDP‐type dimer, whose reduction with Na2S2O4 yields an HHDP‐type dimer. However, the oxidation of the HHDP‐type product over CuCl2 does not afford the parent DHHDP ester. The oxidation of 1,4‐butanediol digallate under the same conditions produces a DHHDP‐type product via the intramolecular coupling of galloyl groups. These results strongly suggest that the DHHDP group is the initial product of the oxidative coupling of two galloyl groups in the ellagitannin biosynthesis, and subsequent reductive metabolism affords HHDP esters.
Selective Construction of Trefoil knots and a Molecular Borromean Ring Induced by Steric Hindrance of Thioether Ligands
Authors: Zhang Hai‐Ning , Lin Yue‐Jian , Jin Guo‐Xin 
Published: May 2021

AbstractTwo Cp*−RhIII based trefoil knots were obtained in high yield under ambient conditions via the coordination‐driven self‐assembly of semi‐rigid thioether dipyridyl ligand 1,4‐bis[(pyridin‐4‐ylthio)methyl]benzene (L1), ligand chloranilic acid (H2−CA) and 6,11‐dihydroxytetracene‐5,12‐dione (H2‐TtDo) with Cp*RhIII metal corner units, respectively. Furthermore, using the bulkier 4,4′‐{[(2,5‐dimethyl‐1,4‐phenylene)bis(methylene)]bis(sulfanediyl)}dipyridine (L2) in the place of ligand L1 in the construction process resulted in the formation of a teranuclear metallacycle and a template‐free Borromean ring in high yields thanks to significantly altered intermolecular forces between the constituent ligands induced by the sterically‐hindering methyl groups of L2, as demonstrated via a detailed X‐ray crystallographic analysis and NMR spectroscopy.
Effects of self–other decision‐making on time‐based intertemporal choice
Authors: Zhao Cui‐Xia , Shen Si‐Chu , Li Yan , Liu Xin , Li Shu 
Published: May 2021

AbstractThe effects of self–other decision‐making on intertemporal choice have been revealed in many studies using a monetary outcome. However, the outcome of intertemporal choice is not restricted to money; time is also a scarce and nonrenewable resource outcome. Thus, we conducted a series of experiments to address the effects of self–other decision‐making on time‐based intertemporal choice, a type of intertemporal choice that uses time as an outcome. Over the course of three experiments, differences in self–other decision‐making were evidenced. Participants who made decisions for others were more likely to prefer the smaller but sooner (SS) option over the larger but later (LL) option and considered the gain of the SS option to be significantly greater than that of the LL option. Participants who made decisions for themselves were likely to prefer the LL option over the SS option. However, they considered the gains of the LL and the SS option to be indifferent. Changing the role of decision‐making could affect the ability of individuals to consider the future consequences of their decisions. The effects of self–other decision‐making on time‐based intertemporal choice could be explained by the accounts of economic reasoning and construal level theory. The findings indicated that the effects of self–other decision‐making on time‐based intertemporal choice, which could be generated simply by rewording questions, can help individuals make optimal long‐term choices without the need for increased control.
Assessing mediating effects of high‐dimensional microbiome measurements in dietary intervention studies
Authors: Binder Nadine , Lederer Ann‐Kathrin , Michels Karin B. , Binder Harald 
Published: May 2021

AbstractHabitual diet can influence health‐related outcomes directly, but such effects may also be modulated indirectly by gut microbiota. We consider randomized trials and the question to what extent the effect of diet on an outcome of interest is mediated through the gut microbiome or whether there is a diet–microbiome interaction identifying subgroups of individuals who are more susceptible to specific dietary effects. The baseline microbiome by itself may be a modifier of the effects of diet on health. Yet, the high dimensionality of microbiome data requires innovative statistical approaches to identify potential mediating or moderating effects. To motivate our proposal for an appropriate analysis workflow, we consider a randomized trial that investigates the effect of a 4‐week vegan diet on the diversity of gut microbiota and branched‐chain amino acid metabolism in healthy omnivorous volunteers. To address the challenge of compositional microbiome data, we consider an adaptation of the lasso for penalized estimation of multivariable regression models with a large number of microbiotic taxa. This is plugged into a classical regression mediation effect analysis strategy. The interaction effects are obtained via an approach that can directly estimate them without having to deal with main effects. As a result we obtain signatures comprised of microbiotic taxa with potential mediating and moderating effects. Some taxa no longer show up as mediating, when taking moderating effects into account. Thus, the proposed analysis strategy allows to identify specific mediating effects, while avoiding potential erroneous conclusions, where moderating effects might have believed to be mediating effects.
Cognitive deficit is correlated with sleep stability in insomnia: A cardiopulmonary coupling study
Authors: Zhang Xuan , Song Bingxin , Liu Yanyan , Wan Yahui , Zhou Kaili , Xue Rong 
Published: May 2021

AbstractObjectivesTo assess the correlation of cognitive function with sleep stability and depressive‐anxious symptoms in insomnia patients.MethodsTwenty‐two insomnia patients with cognitive impairment (insomnia‐CI), 21 insomnia patients with normal cognition (insomnia‐CN), and 15 matched healthy control subjects (HCs) were enrolled and completed neuropsychological tests, the Hamilton Depression and Anxiety Scales (HAMD and HAMA), the Epworth Sleepiness Scale, the Pittsburgh Sleep Quality Index (PSQI),the Insomnia Severity Index (ISI), and the cardiopulmonary coupling (CPC) examination. Ratios of high‐frequency coupling (HFC), low‐frequency coupling (LFC), and very low‐frequency coupling (VLFC) measured by CPC analysis represent stable sleep, unstable sleep, and wake/rapid eye movement (REM) sleep, respectively.ResultsThe HAMD, HAMA, PSQI, and ISI scores were higher in the insomnia‐CN patients than in the HCs (all p < .01). However, no differences were found in the HFC, LFC, and VLFC ratio between the HCs and insomnia‐CN groups. Compared with the insomnia‐CN patients, insomnia‐CI patients exhibited higher scores on the HAMD, HAMA (all p < .01), and PSQI (p < .05), performed worse on the Auditory Verbal Learning Test, Trial Making Test B, and Stroop Test B (all p < .01), had a lower HFC ratio, and had a higher LFC ratio in the CPC analysis (all p < .01). Furthermore, in the insomnia patients, poorer cognition was correlated with a decreased HFC ratio and an increased VLFC ratio (r = .356, p = .019; r = −.339, p =.026, respectively) and increased HAMD and HAMA scores (r = −.507, p < .001; r = −.561, p < .001, respectively); a higher VLFC ratio was correlated with an increased ISI score (r = .346, p = .023).ConclusionsCognitive deterioration in insomnia patients was associated with a decreased stable sleep ratio, an increased wake/REM sleep ratio and more severe symptoms of depression and anxiety. CPC analysis can reflect the severity of insomnia.
Does clean technology weaken the environmental impact on the financial performance? Insight from global oil and gas companies
Authors: Brahmana Rayenda Khresna , Kontesa Maria 
Published: May 2021

AbstractThis study aims to clarify the relationship between environmental performance and financial performance by introducing clean technology as the moderating variable. We contest two major theories, natural resource‐based view theory and neoclassical theory, to reveal a comprehensive understanding of environmental performance's impact on financial performance. The hypotheses are tested on 111 global oil and gas companies using dynamic panel generalized method of moments (GMM). Our analysis reveals three key findings. First, lower environmental performance leads to lower financial performance confirming the natural resource‐based view theory. Second, clean technology has no significant effect on financial performance, arguing the marginal abatement cost. Finally, our results report that clean technology has no impact on increasing financial performance during high waste spills or high emissions. Theoretical and practical implications resulting from the adoption of clean technology to moderate the environmental impact on financial performance are also discussed.
Hydrolysis of lignocellulose by anaerobic fungi produces free sugars and organic acids for two‐stage fine chemical production with Kluyveromyces marxianus
Authors: Hillman Ethan T. , Li Mengwan , Hooker Casey A. , Englaender Jacob A. , Wheeldon Ian , Solomon Kevin V. 
Published: May 2021

AbstractDevelopment of the bioeconomy is driven by our ability to access the energy‐rich carbon trapped in recalcitrant plant materials. Current strategies to release this carbon rely on expensive enzyme cocktails and physicochemical pretreatment, producing inhibitory compounds that hinder subsequent microbial bioproduction. Anaerobic fungi are an appealing solution as they hydrolyze crude, untreated biomass at ambient conditions into sugars that can be converted into value‐added products by partner organisms. However, some carbon is lost to anaerobic fungal fermentation products. To improve efficiency and recapture this lost carbon, we built a two‐stage bioprocessing system pairing the anaerobic fungus Piromyces indianae with the yeast Kluyveromyces marxianus, which grows on a wide range of sugars and fermentation products. In doing so we produce fine and commodity chemicals directly from untreated lignocellulose. P. indianae efficiently hydrolyzed substrates such as corn stover and poplar to generate sugars, fermentation acids, and ethanol, which K. marxianus consumed while producing 2.4 g/L ethyl acetate. An engineered strain of K. marxianus was also able to produce 550 mg/L 2‐phenylethanol and 150 mg/L isoamyl alcohol from P. indianae hydrolyzed lignocellulosic biomass. Despite the use of crude untreated plant material, production yields were comparable to optimized rich yeast media due to the use of all available carbon including organic acids, which formed up to 97% of free carbon in the fungal hydrolysate. This work demonstrates that anaerobic fungal pretreatment of lignocellulose can sustain the production of fine chemicals at high efficiency by partnering organisms with broad substrate versatility.
Stage‐dependent conditional survival and failure hazard of non‐metastatic nasopharyngeal carcinoma after intensity‐modulated radiation therapy: Clinical implications for treatment strategies and surveillance
Authors: Wang Jingbo , Huang Xiaodong , Sun Shiran , Wang Kai , Qu Yuan , Chen Xuesong , Wu Runye , Zhang Ye , Liu Qingfeng , Zhang Jianghu , Luo Jingwei , Xiao Jianping , Gao Li , Xu Guozhen , Hu Chen , Li Ye‐Xiong , Yi Junlin 
Published: May 2021

AbstractPurposeConditional survival (CS) and failure hazard estimations can provide important dynamic prognostic information for clinical decision‐making and surveillance counseling. The current study aimed to investigate the CS and dynamic failure hazard in non‐metastatic nasopharyngeal carcinoma (NPC) treated with intensity‐modulated radiotherapy (IMRT).MethodsConditional overall survival (COS) and progression‐free survival (CPFS) estimates adjusted for age and gender against each AJCC 8th stage were calculated. Multivariable Cox regression (MCR) models were fitted in the entire population at baseline and subsequently separate MCR models were fitted in patients who have maintained event‐free time of 1 to 10 years to generate respective hazard ratio (HR). Annual hazard rates of death and progression over 10 years for each stage were also estimated.ResultsA total of 1993 patients were eligible for analysis. The estimated 5‐year OS and PFS for entire cohort were 79.0% and 70.7% at initial diagnosis. After 5 years of event‐free follow‐up, additional 5‐year COS and CPFS increased to 85.9% and 85.5%, respectively. Stage I/II maintained dramatically favorable CS and low hazard (< 5%) of death and progression over time. Relative to stage I/II, stage III manifested non‐significantly higher failure hazard for the first 3 years of survivorship and approached to similar level of stage I/II afterwards. Stage IVA presented most impressive improvement in terms of both COS (∆=9.8%) and CPFS (∆ = 16.8%) whereas still drastically inferior to that of stage I‐III across all conditional time points. After 4 years of follow‐up, progression hazard of stage IVA became relatively steady of approximate 6%.ConclusionsSurvival prospect of non‐metastatic NPC improves over years with distinct dynamic patterns across stages, providing important implications for personalized decision‐making in terms of both clinical management and surveillance counseling. Stage‐dependent and hazard‐adapted clinical management and surveillance are warranted.