bluuebunny/crossref_metadata_2025_split huggingface dataset:
RETRACTED: Forensic characteristics and genetic affinity analyses of Xinjiang Mongolian group using a novel six fluorescent dye‐labeled typing system including 41 Y‐STRs and 3 Y‐InDels
Authors: Liu Yanfang , Yu Tingting , Mei Shuyan , Jin Xiaoye , Lan Qiong , Zhou Yongsong , Fang Yating , Xie Tong , Huang Jiabin , Zhu Bofeng 
Published: December 2019

AbstractBackgroundY‐chromosomal genetic marker haplotypes of individuals can define the paternal kinship or genealogies to which they belong and further provide clues for forensic individual identifications. Studying the genetic structure of the Mongolian group will help to bring to light the Mongolian ethnic origin, and explicate the genetic affinities among the studied and compared populations. Some forensic scientists have studied the genetic background of the Mongolian group based on different molecular genetic markers. These studies were of very great reference significance for the Mongolian group genetic research, whereas the investigation of Y‐STR haplotype data in the Xinjiang Mongolian group is still insufficient.MethodsGenetic characteristics of 182 unrelated healthy male Mongolian individuals were revealed by 41 Y‐chromosomal short tandem repeat and 3 insertion/deletion molecular genetic markers. Furthermore, analyses of molecular variance programs, multi‐dimensional scaling plots, and phylogenetic tree reconstructions were operated to explore the genetic relationships of the Xinjiang Mongolian group with comparative 23 populations from China and 33 populations from worldwide nations.ResultsThe genetic diversity values ranged from 0.0641 (rs771783753) to 0.9502 (DYF387S1). A total of 165 distinct haplotypes were identified, of which 150 (90.91%) were unique. The discrimination capacity, match probability, and haplotype diversity of 44 loci were 0.9066, 0.0067, and 0.9988, respectively. Additionally, the Mongolian group had the most intimate relationship with Gansu Dongxiang (RST = 0.0165), followed by HulunBuir Mongolian (RST = 0.0187), Inner Mongolia Daur (RST = 0.0202) as well as other three minority ethnic groups from the Xinjiang region (RST < 0.05) in all compared Chinese populations, and clustered together with the majority of Asian populations in a worldwide scale.ConclusionsConsequently, the 44 loci could be well applied in forensic applications of the Mongolian group. The haplotypes available in here made new contributions to the existing population genetic information and would be of great value in population studies.
VPS13D‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia
Authors: Koh Kishin , Ishiura Hiroyuki , Shimazaki Haruo , Tsutsumiuchi Michiko , Ichinose Yuta , Nan Haitian , Hamada Shun , Ohtsuka Toshihisa , Tsuji Shoji , Takiyama Yoshihisa 
Published: December 2019

AbstractBackgroundAlterations of vacuolar protein sorting‐associated protein 13 (VPS13) family members including VPS13A, VPS13B, and VPS13C lead to chorea acanthocytosis, Cohen syndrome, and parkinsonism, respectively. Recently, VPS13D mutations were identified as a cause of VPS13D‐related movement disorders, which show several phenotypes including chorea, dystonia, spastic ataxia, and spastic paraplegia.MethodsWe applied whole‐exome analysis for a patient with a complicated form of hereditary spastic paraplegia (HSP) and her unaffected parents. Then, we screened the candidate genes in 664 Japanese families with HSP in Japan.ResultsWe first found a compound heterozygote VPS13D mutation and a heterozygote ABHD4 variation in a sporadic patient with spastic paraplegia. Then, we found three patients with VPS13D mutations in two Japanese HSP families. The three patients with homozygous mutations (p.Thr1118Met/p.Thr1118Met and p.Thr2945Ala/p.Thr2945Ala) in the VPS13D showed an adult onset pure form of HSP. Meanwhile, the patient with a compound heterozygous mutation (p.Ser405Arg/p.Arg3141Ter) in the VPS13D showed a childhood onset complicated form of HSP associated with cerebellar ataxia, cervical dystonia, cataracts, and chorioretinal dystrophy.ConclusionIn the present study, we found four patients in three Japanese families with novel VPS13D mutations, which may broaden the clinical and genetic findings for VPS13D‐related disorders.
Surface electrical stimulation for facial paralysis is not harmful
Authors: Puls Wiebke C. , Jarvis Jonathan C. , Ruck Anne , Lehmann Thomas , Guntinas‐Lichius Orlando , Volk Gerd Fabian 
Published: December 2019

AbstractIntroductionDoes electrical stimulation (ES) of denervated muscles delay or prevent reinnervation, or increase synkinesis? In this retrospective study we evaluate the outcome, with and without ES, of patients with acutely denervated facial muscles.MethodsThe effect of ES was analyzed in two experiments. In the first experiment, 39 patients (6 with home‐based ES, median 17.5 months) underwent facial nerve reconstruction surgery. Time to recovery of volitional movements was analyzed. The second experiment involved 13 patients (7 with ES, median 19 months) during spontaneous reinnervation. Sunnybrook and eFACE scores provided functional outcome measures.ResultsNo difference in time of reinnervation after facial nerve reconstruction surgery was seen between the patients with and without ES (median [interquartile range]: 4.5 [3.0‐5.25] vs 5.7 [3.5‐9.5] months; P = .2). After spontaneous reinnervation, less synkinesis was noted (Sunnybrook synkinesis score: 3.0 [2.0–3.0] vs 5.5 [4.75‐7.0]; P = .02) with ES.DiscussionWe find no evidence that ES prevents or delays reinnervation or increases synkinesis in facial paralysis.
A new parameter to discriminate amyotrophic lateral sclerosis patients from healthy participants by motor cortical excitability changes
Authors: Cengiz Bülent , Kuruoğlu Reha 
Published: December 2019

AbstractIntroductionWe sought a combination of abnormalities to define a more sensitive measure of cortical excitability in amyotrophic lateral sclerosis (ALS).MethodsThe automatic threshold tracking method was employed to assess the resting motor threshold, intracortical facilitation (ICF), short‐interval intracortical inhibition (SICI), and short‐interval intracortical faciilitation (SICF) in patients and controls.ResultsSICF at interstimulus intervals (ISI) between 1 and 1.8 ms and 2 and 3 ms as well as average SICI and SICI at ISIs of 1 and 2.5 ms were significantly reduced in ALS. The SICI curve was altered, displaying a solitary peak. Discriminant analysis revealed that the combination of SICI 2.5 ms and the mean SICF between 1 and 1.8 ms ISIs was the most sensitive parameter to distinguish patients with ALS from healthy participants.DiscussionAlong with the reduced SICI and its altered shape, connectivity between motor cortical circuits is changed in ALS. Combination with SICF increases the diagnostic utility of SICI in ALS.
Improvements in health status and utility associated with ataluren for the treatment of nonsense mutation Duchenne muscular dystrophy
Authors: Landfeldt Erik , Lindberg Christopher , Sejersen Thomas 
Published: December 2019

AbstractIntroductionLittle is known of the impact of ataluren on health status and utility in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). In this work we sought to investigate the clinical expert consensus of these topics in a Delphi panel study.MethodsSix Swedish neuromuscular experts participated in this study. Consensus was investigated for responses to the Health Utilities Index (HUI) and a visual analog scale (VAS) for ambulatory and nonambulatory patients treated with ataluren plus best supportive care vs best supportive care alone.ResultsConsensus was obtained after three panel rounds across treatments and disease stages, except for HUI question 10 (ability to use hands and fingers) for nonambulatory patients. Utility differences between treatments were 0.31 for ambulatory patients, and 0.15 to 0.18 for nonambulatory patients, respectively. The corresponding VAS differences were 12 and 13.DiscussionThe outcomes of this study support the association of ataluren for the treatment of nmDMD with improved health status and utility.
In-Stream Egg Incubators Produce Hatchery Chinook Salmon with Similarities to and Differences from Natural Juveniles
Authors: Conley Keats R. , Ebel Jonathan D. , Hargrove John S. , Petersen Wyatt , Denny Lytle P. 
Published: December 2019

Abstract
Supplementing fish populations at the egg stage is a low-cost alternative to hatchery rearing that is presumed to improve adaptation to local natural conditions. The Shoshone-Bannock Tribes began supplementing Chinook Salmon Onchorynchus tschwytscha in Panther Creek, Idaho, at the eyed egg stage in 2014. The Chinook Salmon eggs were artificially fertilized and reared to eye-up in the hatchery and then planted in custom-made in-stream incubators (egg boxes) for volitional release and natural rearing. Using data from three brood years, we evaluated the efficacy of this supplementation program solely in terms of juvenile production. We related juvenile production to the placement and retrieval of the egg boxes, assessed the relative contributions of offspring (parr and emigrants) from the egg boxes (HOR) to overall juvenile abundance, and compared the performance (length, condition, dispersal distance, and survival) of HOR versus natural-origin (NOR) juveniles. Brood year and box placement within the stream (distance upstream) were the best predictors of whether or not an egg box was retrieved from its original location. Meanwhile, the condition of the box (i.e., intact, damaged, or missing) was the best single predictor of juvenile production. Supplemented eggs represented an estimated 42, 50, and 42% of the total egg deposition in Panther Creek in brood years 2014, 2015, and 2016, respectively. A parentage analysis revealed that the egg boxes accounted for 6, 22, and 35%, respectively, of the parr production for the respective brood years when the data were normalized to the estimated egg deposition—less than the egg-to-parr production that was estimated for natural redds. As fall parr, the HOR fish differed from the NOR fish in terms of their length and dispersal behavior, but they were of similar length and condition at their emigration from Panther Creek and exhibited no significant difference in downstream survival through the Federal Columbia River Power System (FCRPS). Collectively, our results provide useful insights to fisheries managers who are interested in initiating or refining egg supplementation programs.
Clinical manifestations of Pacak‐Zhuang syndrome in a male pediatric patient
Authors: Abdallah Adel , Pappo Alberto , Reiss Ulrike , Shulkin Barry L. , Zhuang Zhengping , Pacak Karel , Bahrami Armita 
Published: December 2019

AbstractWe report an index case of a male patient who presented with all clinical manifestations of Pacak‐Zhuang syndrome, including early‐age polycythemia, multiple pheochromocytomas/paragangliomas, duodenal somatostatinoma, and ocular findings. Sequencing analysis detected an EPAS1 mutation in all tumors tested, but not in the germline.
Improving aramid pulp dispersion in epoxy resin via the in situ preparation of SiO2 on an aramid pulp surface
Authors: Ding Haiquan , Kong Haijuan , Sun Hui , Xu Qian , Zeng Juan , Yu Muhuo 
Published: December 2019

AbstractAramid pulp (AP) is a highly fibrillated form of fiber， with excellent heat resistance, wear resistance, size stability, and other beneficial properties, that can be dispersed in rubber or resin matrix systems. Its fibrillation results in a large surface area. However, AP easily tangles and aggregates between fibers because of its large surface area. Consequently, it experiences difficulty in dispersing in matrices, especially when a relatively large amount of pulp is needed to be mixed. In this study, a SiO2 nanoparticle was synthesized on the surface of AP through the hydrolysis of tetraethyl orthosilicate to improve the dispersion of AP in an epoxy matrix. Fourier transform infrared spectroscopy, X‐ray diffraction, thermogravimetric analysis, X‐ray photoelectron spectroscopy, and scanning electron microscopy showed that SiO2 nanoparticles coated on the pulp could improve the thermal and mechanical properties. The optimum treatment concentration was 0.15 mol/L. Dynamic mechanical analysis tests indicated when AP modified by SiO2, the E' is higher due to the uniformly diffusion and enhanced interfacial adhesion for load transfer from the epoxy to AP. But Tg is lower as the flexibility chain SiOSi in epoxy. In comparison with the properties of the unmodified AP, the tensile strength and modulus of modified pulp/epoxy composites increased by 53.5% and 160.4%, respectively. Therefore, the dispersion and interface combination of AP modified by SiO2 in the epoxy improved because of the interaction of AP with SiO2 through the hydrogen bonding and crosslinking of SiO2 with epoxy.
Data‐Independent Acquisition‐Based Quantitative Proteomics Analysis Reveals Dynamic Network Profiles during the Macrophage Inflammatory Response
Authors: Li Lei , Chen Li , Lu Xinya , Huang Chenyang , Luo Haihua , Jin Jingmiao , Mei Zhuzhong , Liu Jinghua , Liu Cuiting , Shi Junmin , Chen Peng , Jiang Yong 
Published: December 2019

AbstractUnderstanding of the molecular regulatory mechanisms underlying the inflammatory response is incomplete. The present study focuses on characterizing the proteome in a model of inflammation in macrophages treated with lipopolysaccharide (LPS). A total of 3597 proteins are identified in macrophages with the data‐independent acquisition (DIA) method. Bioinformatic analyses reveal discrete modules and the underlying molecular mechanisms, as well as the signaling network that modulates the development of inflammation. It is found that a total of 87 differentially expressed proteins are shared by all stages of LPS‐induced inflammation in macrophages and that 18 of these proteins participate in metabolic processes by forming a tight interaction network. Data support the hypothesis that ribosome proteins play a key role in regulating the macrophage response to LPS. Interestingly, conjoint analyses of the transcriptome and proteome in macrophages treated with LPS reveal that the genes upregulated at both the mRNA and protein levels are mainly involved in inflammation and the immune response, whereas the genes downregulated are significantly enriched in metabolism‐related processes. These results not only provide a more comprehensive understanding of the molecular mechanisms of inflammation mediated by bacterial infection but also provide a dynamic proteomic resource for further studies.
Solution structure of the nucleotide hydrolase BlsM: Implication of its substrate specificity
Authors: Kang Minhee , Doddapaneni Kiran , Sarni Samantha , Heppner Zach , Wysocki Vicki , Wu Zhengrong 
Published: December 2019

AbstractBiosynthesis of the peptidyl nucleoside antifungal agent blasticidin S in Streptomyces griseochromogenes requires the hydrolytic function of a nucleotide hydrolase, BlsM, to excise the free cytosine from the 5′‐monophosphate cytosine nucleotide. In addition to its hydrolytic activity, interestingly, BlsM has also been shown to possess a novel cytidine deaminase activity, converting cytidine, and deoxycytidine to uridine and deoxyuridine. To gain insight into the substrate specificity of BlsM and the mechanism by which it performs these dual function, the solution structure of BlsM was determined by multi‐dimensional nuclear magnetic resonance approaches. BlsM displays a nucleoside deoxyribosyltransferase‐like dimeric topology, with each monomer consisting of a five‐stranded β‐sheet that is sandwiched by five α‐helixes. Compared with the purine nucleotide hydrolase RCL, each monomer of BlsM has a smaller active site pocket, enclosed by a group of conserved hydrophobic residues from both monomers. The smaller size of active site is consistent with its substrate specificity for a pyrimidine, whereas a much more open active site, as in RCL might be required to accommodate a larger purine ring. In addition, BlsM confers its substrate specificity for a ribosyl‐nucleotide through a key residue, Phe19. When mutated to a tyrosine, F19Y reverses its substrate preference. While significantly impaired in its hydrolytic capability, F19Y exhibited a pronounced deaminase activity on CMP, presumably due to an altered substrate orientation as a result of a steric clash between the 2′‐hydroxyl of CMP and the ζ‐OH group of F19Y. Finally, Glu105 appears to be critical for the dual function of BlsM.
Flow regimes in coastal California steelhead trout streams: Spatiotemporal patterns in magnitude, duration and timing
Authors: Hwan Jason L. , Holmes Robert W. 
Published: December 2019

AbstractThe magnitude, timing and duration of precipitation events can vary considerably across spatial and temporal scales. In lotic ecosystems, such differences in precipitation patterns can strongly influence water availability, which in turn affects the population dynamics of stream biota. Connectivity flow thresholds were developed for the movement of juvenile steelhead trout using hydraulic modelling for 37 coastal California streams. Spatial patterns in magnitude, and spatiotemporal patterns in duration and timing of flows meeting threshold levels were analysed using long‐term flow gaging data. Flow thresholds for the movement of juvenile steelhead through riffle sites varied from 0.06 (San Luisito Creek, Elder Creek) to 0.82 (Redwood Creek) cms (cubic meters per second). Flow thresholds increased positively with mean bankfull width, indicating that more water is required for fish movement in wider streams. Precipitation was a dominant driver of flow duration, with flows meeting thresholds longer in wetter regions of the state when compared with drier regions. On the rising limb of the hydrograph, the onset of meeting flow thresholds was influenced by stream width, with thresholds being met earlier in wider streams when compared with narrower streams. On the receding limb of the hydrograph, flow threshold timing was influenced by precipitation, with flows remaining above the threshold later in wetter regions when compared with drier regions. Based on these findings, we recommend that the management of aquatic resources for a broad range of objectives consider regional scales that account for local patterns in precipitation, channel form and prevailing water year conditions to accommodate California's wide spatiotemporal diversity of water availability.
Invertebrate response to impacts of water diversion and flow regulation in high‐altitude tropical streams
Authors: Rosero‐López Daniela , Knighton James , Lloret Pablo , Encalada Andrea C. 
Published: December 2019

AbstractWater supply systems are critical infrastructure that provides food and energy security for developed societies. The operation of reservoirs (flow regulation) and water intakes (water diversion) has known negative impacts on aquatic ecosystems; however, quantification of ecological impacts and examination of these two types of flow alteration remain a developing area of research. We investigated the individual and combined impact of flow regulation and water diversion on stream ecosystem integrity, the freshwater macroinvertebrate community, and the population structure of flow‐sensitive insects. For 2 years, we monitored quarterly discharge, physical and chemical stream conditions, and benthic invertebrates of four high‐altitude tropical streams that are part of the water supply system of Quito, Ecuador. Flow regulation caused a loss of the hydrological seasonality of these streams, including a decrease in stream depth and biotic quality. Water diversion caused a decrease in dissolved oxygen and overall ecosystem integrity. Freshwater invertebrate density and richness decreased as a result of water diversion and flow regulation. The combined flow alteration in these streams decreased the density of nymphal stages of the widely distributed mayfly Andesiops peruvianus. Given the societal needs for food and energy security, water management for diversion (e.g., irrigation) and in‐line storage practices (e.g., hydroelectric dams) are anticipated to increase. This research suggests that the negative environmental impacts of flow alteration could be mitigated with discharge releases designed to approximate the natural hydrologic regime of undisturbed streams.
Seismic collapse risk assessment of super high‐rise buildings considering modeling uncertainty: A case study
Authors: Zhang Yantai , He Zheng 
Published: December 2019

SummaryBased on the multiple stripes analysis method and the first‐order second‐moment method, a seismic collapse risk assessment considering the modeling uncertainty is carried out for a 118‐story super high‐rise building with a typical mega‐frame/core‐tube/outrigger resisting system. The sensitivity of the median collapse capacity of the building to eight main parameters is analyzed, and then the modeling uncertainty is determined. Both the effects of the characterization methods of bidirectional ground motion intensities and the selection of the ground motion intensity measure (IM) on the aleatory randomness are investigated. The mean estimates approach and the confidence interval method are used to incorporate both the modeling uncertainty and the aleatory randomness, and then the annual collapse probability, the collapse probability at the maximum considered earthquake (MCE) intensity level and the acceptable values of the collapse margin ratios (CMRs) with different confidence levels for the building are calculated. The results show that the influence of the modeling uncertainty on the collapse capacity of the super high‐rise structure is negligible, the aleatory randomness caused by the record‐to‐record variability is significant, and an appropriate ground motion IM can significantly reduce the aleatory randomness.
An adapted vector autoregressive expectation maximization imputation algorithm for climate data networks
Authors: Washington Benjamin J. , Seymour Lynne 
Published: December 2019

AbstractMissingness in historical climate data networks is a pervasive phenomenon due to the conditions under which these measurements are made. Accurate estimation of these data is a critical issue as projections of future climate depend on a reliable historical climate record. After all, how can the impact of climate change be reliably forecasted when a large proportion of historical climate records are permeated with missing data? We propose an iterative multivariate infilling algorithm and explore its effectiveness on three United States temperature networks of varying densities (number of stations per unit area). Although other multivariate data are not explored here, the application of this infilling procedure is not restricted to climate networks exclusively. We also explore its utility as a function of the type of missing data (i.e., whether or not there is a mechanism or pattern behind the missing observations themselves) and the proportion of missing data within the network. As one may expect, we observe a slightly smaller root mean square error (RMSE) for temperature networks with more stations and less missingness. Somewhat surprisingly, the RMSE tends to be lower for data which is missing at random (there is some mechanism behind the missing data) rather than for data that is missing completely at random (no mechanism behind the missing data). Not surprisingly, the RMSE is largest for data which is missing not at random (missing data are directly related to the values of the observations themselves). Perhaps the most surprising result observed in these networks is that the inclusion of lagged temperature data does not necessarily improve the accuracy of data imputation. The typical RMSE for monthly minimum temperature networks varies from around 1.5 to 2.5°C.This article is categorized under:
Data: Types and Structure > Massive Data
Data: Types and Structure > Image and Spatial Data
Data: Types and Structure > Time Series, Stochastic Processes, and Functional Data
Applications of Computational Statistics > Computational Climate Change and Numerical Weather Forecasting