bluuebunny/crossref_metadata_2025_split huggingface dataset:
Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long‐read sequencing
Authors: Mehinovic Elvisa , Gray Teddi , Campbell Meghan , Ekholm Jenny , Wenger Aaron , Rowell William , Grudo Ari , Grimwood Jane , Korlach Jonas , Gurnett Christina , Constantino John N. , Turner Tychele N. 
Published: April 2022

AbstractCurrently, protein‐coding de novo variants and large copy number variants have been identified as important for ~30% of individuals with autism. One approach to identify relevant variation in individuals who lack these types of events is by utilizing newer genomic technologies. In this study, highly accurate PacBio HiFi long‐read sequencing was applied to a family with autism, epileptic encephalopathy, cognitive impairment, and mild dysmorphic features (two affected female siblings, unaffected parents, and one unaffected male sibling) with no known clinical variant. From our long‐read sequencing data, a de novo missense variant in the KCNC2 gene (encodes Kv3.2) was identified in both affected children. This variant was phased to the paternal chromosome of origin and is likely a germline mosaic. In silico assessment revealed the variant was not in controls, highly conserved, and predicted damaging. This specific missense variant (Val473Ala) has been shown in both an ortholog and paralog of Kv3.2 to accelerate current decay, shift the voltage dependence of activation, and prevent the channel from entering a long‐lasting open state. Seven additional missense variants have been identified in other individuals with neurodevelopmental disorders (p = 1.03 × 10−5). KCNC2 is most highly expressed in the brain; in particular, in the thalamus and is enriched in GABAergic neurons. Long‐read sequencing was useful in discovering the relevant variant in this family with autism that had remained a mystery for several years and will potentially have great benefits in the clinic once it is widely available.
Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability
Authors: Tayeh Marwan K. , DeVaul Janean , LeSueur Kristin , Yang Chen , Bedoyan Jirair K. , Thomas Peedikayil , Hannibal Mark C. , Innis Jeffrey W. 
Published: April 2022

AbstractMultilocus imprinting disturbances (MLID) have been associated with up to 12% of patients with Beckwith‐Wiedemann syndrome, Silver‐Russell syndrome, and pseudohypoparathyroidism type 1B (PHP1B). Single‐gene defects affecting components of the subcortical maternal complex (SCMC) have been reported in cases with multilocus hypomethylation defects. We present a patient with speech and language impairment with mild Angelman syndrome (AS) features who demonstrates maternal hypomethylation at 15q11.2 (SNRPN) as well as 11p15.5 (KCNQ1OT1) imprinted loci, but normal methylation at 6q24.2 (PLAGL1), 7p12.1 (GRB10), 7q32.2 (MEST), 11p15.5 (H19), 14q32.2 (MEG3), 19q13.43 (PEG3), and 20q13.32 (GNAS and GNAS‐AS1). The proband also has no copy number nor sequence variants within the AS imprinting center or in UBE3A. Maternal targeted next generation sequencing did not identify any pathogenic variants in ZPF57, NLRP2, NLRP5, NLRP7, KHDC3L, PADI6, TLE6, OOEP, UHRF1 or ZAR1. The presence of very delayed, yet functional speech, behavioral difficulties, EEG abnormalities but without clinical seizures, and normocephaly are consistent with the 15q11.2 hypomethylation defect observed in this patient. To our knowledge, this is the first report of MLID in a patient with mild, likely mosaic, Angelman syndrome.
See many, do one, teach many more: Assessing quality and reliability of publicly available endoscopic videos in rhinology
Authors: Bitner Benjamin F. , Gowda Sanjita , Mark Michelle E. , Warner Danielle C. , Tajudeen Bobby A. , Kuan Edward C. 
Published: April 2022

AbstractObjectivesThe use of video recording is commonplace in rhinology given the increased use of endoscopes when evaluating patients in the office and the operating room and for its educational potential. This study aimed to determine the quality of publicly available endoscopic videos in rhinology.MethodsA video search was performed on YouTube in April 2020 and included all videos since its inception in 2005 using terms related to rhinology found in the Accreditation Council for Graduate Medical Education (ACGME) Case Log Coding Guide. Videos which met inclusion criteria were evaluated for video metrics and quality using validated scoring systems: Video Power Index (VPI), modified Journal of American Medical Association (JAMA) benchmark criteria, modified global quality score (GQS), and modified DISCERN criteria.ResultsA total of 138 videos were evaluated, 114 of which were uploaded independently, and 24 videos were uploaded by an academic institution. Academic‐affiliated videos have higher like ratio at 91.7 ± 7.55% compared with 86.27 ± 17.44% (p = 0.018). Academic‐affiliated videos have higher JAMA benchmark scores, DISCERN criteria scores, and GQS values (1.71 ± 0.55 vs. 1.66 ± 0.49 [p = 0.66]), (3.33 ± 0.56 vs. 2.85 ± 0.65 [p < 0.001]), (4.38 ± 0.81 vs. 3.43 ± 1.01 [p < 0.001])], respectively. There was no significant difference in VPI (p = 0.73).ConclusionsEndoscopic videos are rapidly growing in prominence and remain an important part of surgical education, but overall are heterogeneous in quality and reliability, necessitating an effort to establish both video sharing regulations and objective standards of quality.
Functional characterization of two different decaprenyl diphosphate synthases in the vetch aphid Megoura viciae
Authors: Song Xuan , Li Zheng‐Xi 
Published: April 2022

AbstractLong‐chain polyprenyl diphosphate synthases play a critical role in the formation of the prenyl side‐chain of ubiquinones, but up to date, their functions have scarcely been characterized in insects. Here, we first cloned the complementary DNAs encoding the subunits of decaprenyl diphosphate synthase (DPPS) in the vetch aphid Megoura viciae, an important agricultural pest insect. The results showed that there existed three DPPS subunits, designated as MvDPPS1, MvDPPS2a, and MvDPPS2b, with an open reading frame of 1218, 1275, and 1290 bp, and a theoretical isoelectric point of 7.91, 6.63, and 9.62, respectively. The sequences of MvDPPS1s from different aphid species were nearly identical, while the sequences of MvDPPS2a and MvDPPS2b shared only moderate sequence similarity. Phylogenetic analysis clearly separated MvDPPS2a and MvDPPS2b, indicating a functional differentiation between them. Functional coexpression analysis in Escherichia coli showed that MvDPPS1 plus MvDPPS2a and MvDPPS1 plus MvDPPS2b, respectively, catalyzed the formation of the prenyl side‐chain of the ubiquinone coenzyme Q10 (CoQ10). Interestingly, MvDPPS1 plus MvDPPS2b catalyzed the formation of the prenyl side‐chain of a ubiquinone other than CoQ10. RNA interference‐mediated knockdown of MvDPPS2a imposed no significant effect on MvDPPS2b, and vice versa, suggesting no compensatory action between them. In the end, we detected the product CoQ10 in the aphid, the first identification of CoQ10 in an insect species. Taken together, we characterized two functional DPPSs in M. viciae, one of which might be multifunctional. Our study helps to understand the functional plasticity of the terpenoid backbone biosynthesis pathway in insects.
Bis‐diamine administration during pregnancy induces developmental and reproductive toxicities in rats
Authors: Lee Jinsoo , Jeong Ji‐Seong , Kim Sang Yun , Kim Woojin , Lee Sun‐Young , Park Jeong‐Dong , Oh Jung‐Hwa , Park Daeui , Lee Seung‐Jin , Baek Sang‐Ki , Quah Yixian , Nam Sang‐Yoon , Yu Wook‐Joon 
Published: April 2022

AbstractBackgroundBis‐diamine was developed as amebicidal and male contraceptive agents; however, it is also reported to induce characteristic congenital heart defects especially in the cardiac conotruncal area of rats. Because of its characteristic congenital heart defects, bis‐diamine‐induced animal models can be used for studying congenital heart defects. However, comprehensive toxicological information regarding bis‐diamine‐induced congenital heart defects in this animal model is not available.MethodsIn this study, we investigated and characterized an animal model for bis‐diamine‐induced congenital heart defects. A single dose of 200‐mg bis‐diamine was administered by oral gavage to pregnant rats on gestation day 10, and then observed the representative toxicological endpoints for general systemic health of pregnant rats, embryo‐fetal development, and parturition.ResultsCharacteristic congenital heart defects and other birth defects similar to DiGeorge syndrome were observed in bis‐diamine‐administered pregnant rats. In addition, developmental and reproductive toxicity findings, including increased postimplantation loss, decreased fetal weight, increased perinatal death, and increased gestation period, were observed in bis‐diamine‐administered pregnant rats. In particular, these developmental and reproductive toxicities were observed without maternal toxicity findings.ConclusionThese results will be useful to use this animal model for further studies in congenital heart defects, cardiovascular defects, and understanding their mechanisms.
Nerve branches to the anterior tibial artery: Clinical application
Authors: Umemoto Kanae , Otsuka Shun , Mizuno Daisuke , Nanizawa Eri , Fukushige Kaori , Hatayama Naoyuki , Naito Munekazu 
Published: April 2022

AbstractArteries receive vascular branches (VBs) from peripheral nerves. VBs are thought to be involved in arterial constriction. Although the anterior tibial artery (ATA) receives VBs, information on their branching patterns and distribution areas remains limited. The aim of this study was to investigate the anatomical structures of the VBs reaching the ATA. Forty cadaver limbs were examined to assess the branching patterns and distribution areas of the VBs reaching the ATA. The VBs reaching the ATA ramified from the deep fibular nerve (DFN), and the ATA received two or three VBs in each limb. The following mean distances from the head of fibula to the points at which the VBs reached the ATA were measured: all the VBs, 1st VB, 2nd VB and 3rd VB. The measurements were 51.5 ± 23.2 mm, 33.3 ± 3.7 mm, 53.3 ± 18.6 mm, and 72.2 ± 24.5 mm, respectively. In all limbs, the DFN and the ATA converged after the DFN branched into the 1st VB. The 2nd VB in 38 of 40 limbs and the 3rd VB in 20 of 32 limbs were distributed in the ATA proximal to the convergence point of the ATA and the DFN. These findings revealed that all VBs reaching the ATA ramified from the DFN in all limbs. The ATA received two or three VBs, and all the 1st VBs distributed to the ATA proximal to the convergence point.
Age‐specific prevalence and genotype distribution of human papillomavirus in women from Northwest China
Authors: Lin Xiaohong , Chen Liu , Zheng Yunyun , Yan Feng , Li Jia , Zhang Jianfang , Yang Hong 
Published: April 2022

AbstractBackgroundHuman papillomavirus (HPV) is the leading cause of cervical cancer with more than 200 genotypes. Different genotypes have different potentials in causing premalignant lesions and cervical cancers. In this study, we investigated the age‐specific prevalence and genotype distribution of HPV genotypes in Northwest China.Materials and MethodsWe recruited 145,918 unvaccinated women from Northwest China for population‐based HPV DNA screening test during June 2015 to December 2020. And a lab‐based test was performed for each volunteer by flow fluorescent technology to identify the genotypes of HPV.ResultsThe overall infection rate of HPV was 22.97%. With the participants divided into 12 groups according to age, a bimodal curve of infection rate was obtained. And the two peaks appeared in the younger than 20 group and 61–65 group, respectively. The five most common HPV genotypes included HPV 16, 58, 52, 53 and 61 in all participants, which were in descending order of frequency. Among women younger than 25 years old, HPV 6 and 11 were more common and even higher than some genotypes mentioned above. Among women older than 65 years old, HPV 18 and 66 were more common than or as high as the six most common genotypes in all populations. Additionally, the distribution of single and multiple infections in each age group was also different.ConclusionThe baseline prevalence and genotype distribution of HPV in Northwest China was uncovered for the first time. Age was related to the epidemiology of different HPV genotypes. All the results would be of great significance for future healthcare services.
Permutation tests for ASCA in multivariate longitudinal intervention studies
Authors: Camacho José , Díaz Caridad , Sánchez‐Rovira Pedro 
Published: April 2022

AbstractPermutation tests are the standard technique for significance testing in Analysis of Variance Simultaneous Component Analysis. However, there is a vast number of alternative approaches for permutation testing, and the number of choices grows in relation to the complexity of the study design. In this paper, we focus on longitudinal intervention studies with multivariate outcomes, a relevant experimental design in clinical studies where the outcome is an omics profile (such as in genomics, metabolomics, and the like). We propose a new technique to derive power curves tailored to the size and (un)balanced nature of the data set in the study. This technique is useful to identify misleading permutation tests, with lack of power or overly optimistic outcomes. We found that choosing the best permutation approach is far from intuitive and that there is a significant risk of deriving incorrect conclusions in real‐life analyses. Our approach avoids this risk and can be extended to other complex designs of interest. The code is available for free use.
Inflammation, coronary plaque progression, and statin use: A secondary analysis of the Risk Stratification with Image Guidance of HMG CoA Reductase Inhibitor Therapy (RIGHT) study
Authors: Scott Colin , Lateef Sundus S. , Hong Christin G. , Dey Amit K. , Manyak Grigory A. , Patel Nidhi H. , Zhou Wunan , Sorokin Alexander V. , Abdelrahman Khaled , Uceda Domingo , Teklu Meron , Wu Colin , Parel Philip M. , Sandfort Veit , Chen Marcus Y. , Mallek Marissa , Ahlman Mark , Bluemke David , Mehta Nehal N. 
Published: April 2022

AbstractBackgroundStatin treatment is a potent lipid‐lowering therapy associated with decreased cardiovascular risk and mortality. Recent studies including the PARADIGM trial have demonstrated the impact of statins on promoting calcified coronary plaque.HypothesisThe degree of systemic inflammation impacts the amount of increase in coronary plaque calcification over 2 years of statin treatment.MethodsA subgroup of 142 participants was analyzed from the Risk Stratification with Image Guidance of HMG CoA Reductase Inhibitor Therapy (RIGHT) study (NCT01212900), who were on statin treatment and underwent cardiac computed tomography angiography (CCTA) at baseline and 2‐year follow‐up. This cohort was stratified by baseline median levels of high‐sensitivity hs‐CRP and analyzed with linear regressions using Stata‐17 (StataCorp).ResultsIn the high versus low hs‐CRP group, patients with higher baseline median hs‐CRP had increased BMI (median [IQR]; 29 [27–31] vs. 27 [24–28]; p < .001), hypertension (59% vs. 41%; p = .03), and LDL‐C levels (97 [77–113] vs. 87 [75–97] mg/dl; p = .01). After 2 years of statin treatment, the high hs‐CRP group had significant increase in dense‐calcified coronary burden versus the low hs‐CRP group (1.27 vs. 0.32 mm2 [100×]; p = .02), beyond adjustment (β = .2; p = .03).ConclusionsStatin treatment over 2 years associated with a significant increase in coronary calcification in patients with higher systemic inflammation, as measured by hs‐CRP. These findings suggest that systemic inflammation plays a role in coronary calcification and further studies should be performed to better elucidate these findings.
Wood‐Derived Monolithic Carbon Materials and Their Functional Applications
Authors: Sun Yating , He Zhaocai , Wei Yuan , Liu Gonggang , Liu Rukuan , Hu Jinbo , Liu Huaifei , Zhang Xiang , Yuan Guangming 
Published: April 2022

AbstractWood‐derived monolithic carbon materials have attracted increasing attention because of the unique porous structure, renewability, and easy processing. They are frequently used as a structural functional material in energy, environment, catalysis, and other applications recently. Wood‐derived monolithic carbon materials still exhibit the interconnected capillary array structure of wood which is in favor of mass transfer and energy storage/conversion offering application performance and prospect. Herein, wood‐derived monolithic carbon materials, from preparation to function application, are summarized. Various wood raw materials and carbonization methods are described in this work, as well as their impressive application performance in different fields. The aim is to provide an overview of the different monolithic carbon materials obtained from bulk wood which are employed for various functional applications, including energy storage/conversion, environmental conservation, solar steam generation devices, catalysis, and microwave absorption. This review will deepen the understanding of wood‐derived monolithic carbon utilization and inspire new ideas in the area of designing advanced wood‐based materials.
Are older adults with hip fractures a specific risk group for vitamin B12 deficiency?
Authors: Dinamarca‐Montecinos José Luis , Vásquez‐Leiva Alejandra 
Published: April 2022

AbstractBackgroundHip fractures (HF) are a high‐impact geriatric syndrome. Vitamin B12 deficiency is an HF risk factor. There are few studies on prevalence of B12 deficiency in older adults with HF. The objectives are as follows: in older adults with HF, to describe/characterize plasma levels of vitamin B12 (PL‐B12); to verify presence/absence of a subgroup with borderline, near‐deficient PLB12; to describe HF incidence; and to analyse relationships between PL‐B12 and studied variables.MethodsCross‐sectional, observational study, analytical component. Complete Collection sample (01.08.2016–31.08.2018). Variables: PL‐B12, age, sex, HF location, time of year, in‐hospital stay length. Medians/percentiles, non‐parametric tests. PL‐B12 cut‐off points according to the WHO, proposing new cut‐off points to capture borderline values.ResultsA total of 580 subjects. HF incidence = 264/100 000 ≥ 65 years, 79% female, 72% extracapsular HF. Medians: age = 83 years; PL‐B12 = 349 pg/cc; hospitalization = 13 days. Significantly lower PL‐B12 in males (P = 0.023) and extracapsular fractures (P = 0.013). No significant differences between age groups, length of hospitalization, and season of the year. Thirty‐five per cent B12 deficiency (16% deficiency and 19% mild deficiency). By increasing cut‐off point for deficiency to 400 pg/cc, prevalence increased to 58%.ConclusionsHigh prevalence of vitamin B12 deficiency among older adults with HF, significantly higher in men and extracapsular HF. Twenty‐four per cent normal PL‐B12 according to WHO criteria, but with borderline, near‐deficient levels, at the time of HF. In older adults with HF, we recommend measuring PL‐B12 and raising the cut‐off level required to diagnose deficiency. We consider that older adults with HF are a specific risk group for vitamin B12 deficiency.
Towards sustainable development: Environmental innovation, cleaner production performance, and reputation
Authors: Quintana‐García Cristina , Marchante‐Lara Macarena , Benavides‐Chicón Carlos G. 
Published: April 2022

AbstractThe growing concerns regarding sustainability and a firm's effects on the environment explain the important role that environmental management may play in corporate reputation. Following the premises of the stakeholder approach and dynamic capability theory, we explore how a comprehensive environmental management (environmental innovation [EI] and cleaner production [CP]) impacts a firm's reputation. By analyzing a panel data of European manufacturing firms, we show that EIs benefit corporate reputation. Results also confirm that the higher effectiveness of CP initiatives, the higher a firm's reputation. Both dynamic capabilities improve the firm's legitimacy and stakeholders' perceptions concerning the firm's commitment to environmental sustainability. We offer relevant insights for the academic community as to how EI and CP represent proactive strategies that enhance reputation and provide practical implications for managers in order to respond to stakeholders' demands.
Biomass‐Derived Lenthionine Enhanced by Radical Receptor for Rechargeable Lithium Battery
Authors: Gao Mengnan , Lan Jiaqi , Fu Yongzhu , Guo Wei 
Published: April 2022

AbstractOrganic compounds with tunable structures and high capacities are promising electrode materials for batteries. Cyclic organosulfide (i. e., lenthionine), as a natural material that can provide excellent ratio of effective atoms (S) and non‐efficient atoms (C, H, and others), has a high theoretical specific capacity of 853.6 mAh g−1. However, the multiphase transformation causes rapid capacity decay and hysteresis of charge/discharge voltage plateaus. To overcome these issues, a receptor, phenyl disulfide (PDS), was introduced to truncate subsequent transformations directly from the source and change the reaction path, inhibit the capacity decay, and improve the cycling stability. After 500 cycles, the capacity retention was 81.1 % with PDS, which was in sharp contrast to that (35.6 %) of the control cell. This study helps to understand the electrochemistry mechanism of biomass‐derived lenthionine used as a high‐capacity cathode material for rechargeable lithium batteries, also offering a strategy to overcome its inherent issues.
Geographical POI recommendation for Internet of Things: A federated learning approach using matrix factorization
Authors: Huang Jiwei , Tong Zeyu , Feng Zihan 
Published: April 2022

SummaryWith the popularity of Internet of Things (IoT), Point‐of‐Interest (POI) recommendation has become an important application for location‐based services (LBS). Meanwhile, there is an increasing requirement from IoT devices on the privacy of user sensitive data via wireless communications. In order to provide preferable POI recommendations while protecting user privacy of data communication in a distributed collaborative environment, this paper proposes a federated learning (FL) approach of geographical POI recommendation. The POI recommendation is formulated by an optimization problem of matrix factorization, and singular value decomposition (SVD) technique is applied for matrix decomposition. After proving the nonconvex property of the optimization problem, we further introduce stochastic gradient descent (SGD) into SVD and design an FL framework for solving the POI recommendation problem in a parallel manner. In our FL scheme, only calculated gradient information is uploaded from users to the FL server while all the users manage their rating and geographic preference data on their own devices for privacy protection during communications. Finally, real‐world dataset from large‐scale LBS enterprise is adopted for conducting extensive experiments, whose experimental results validate the efficacy of our approach.