bluuebunny/crossref_metadata_2025_split huggingface dataset:
Association of variants in the KIF1A gene with amyotrophic lateral sclerosis
Authors: Liao Panlin , Yuan Yanchun , Liu Zhen , Hou Xiaorong , Li Wanzhen , Wen Jin , Zhang Kexuan , Jiao Bin , Shen Lu , Jiang Hong , Guo Jifeng , Tang Beisha , Zhang Zhuohua , Hu Zhonghua , Wang Junling 
Published: October 2022

Abstract
Background
Amyotrophic lateral sclerosis (ALS) is a devastating progressive neurodegenerative disease that affects neurons in the central nervous system and the spinal cord. As in many other neurodegenerative disorders, the genetic risk factors and pathogenesis of ALS involve dysregulation of cytoskeleton and neuronal transport. Notably, sensory and motor neuron diseases such as hereditary sensory and autonomic neuropathy type 2 (HSAN2) and spastic paraplegia 30 (SPG30) share several causative genes with ALS, as well as having common clinical phenotypes. KIF1A encodes a kinesin 3 motor that transports presynaptic vesicle precursors (SVPs) and dense core vesicles and has been reported as a causative gene for HSAN2 and SPG30.

Methods
Here, we analyzed whole-exome sequencing data from 941 patients with ALS to investigate the genetic association of KIF1A with ALS.

Results
We identified rare damage variants (RDVs) in the KIF1A gene associated with ALS and delineated the clinical characteristics of ALS patients with KIF1A RDVs. Clinically, these patients tended to exhibit sensory disturbance. Interestingly, the majority of these variants are located at the C-terminal cargo-binding region of the KIF1A protein. Functional examination revealed that the ALS-associated KIF1A variants located in the C-terminal region preferentially enhanced the binding of SVPs containing RAB3A, VAMP2, and synaptophysin. Expression of several disease-related KIF1A mutants in cultured mouse cortical neurons led to enhanced colocalization of RAB3A or VAMP2 with the KIF1A motor.

Conclusions
Our study highlighted the importance of KIF1A motor-mediated transport in the pathogenesis of ALS, indicating KIF1A as an important player in the oligogenic scenario of ALS.
Synergetic Influence of Microcrystalline Quartz and Alkali Content in Aggregate on Deterioration of Concrete Railroad Ties Used for 15 Years in High-Speed Railways
Authors: Jeon Dongho , Yu Juan , Kim Jihwan , Yoon Seyoon , Bae Younghoon , Oh Jae Eun 
Published: October 2022

AbstractThis study investigated the deteriorations of precast prestressed concrete (PSC) ties that were used for 15 years in high-speed railways in Korea and its damaging mechanism. The collected PSC ties with longitudinal cracks on sides and map cracks on surfaces exhibited strength degradation. The deteriorations were likely related to alkali-silica reaction (ASR) and delayed ettringite formation (DEF) together, given that the presence of massive ettringite crystals and the decomposition of ASR gel were found from microstructural analyses. Although there were no typical reactive siliceous aggregates for ASR in this study, ASR cracks were generated in the PSC ties. This is because the aggregates in the PSC ties with cracks were potentially reactive, and its high alkali-silica reactivity was likely attributable to the presence of microcrystalline quartz, supplying reactive SiO2 to trigger ASR. Furthermore, the alkali content in aggregates was associated with the deterioration of the PSC ties. The alkali-bearing minerals in aggregates (i.e., alkali feldspars) likely supplied enough alkalis for ASR. Besides, micas in aggregates could promote ASR due to their porous structure, which helps easy water ingress.
Multi-light photogrammetric survey applied to the complex documentation of engravings in Palaeolithic rock art: the Cova de les Meravelles (Gandia, Valencia, Spain)
Authors: Cantó Ana , Lerma José Luis , Martínez Valle Rafael , Villaverde Valentín 
Published: October 2022

Abstract
The new phase of study and revision of the Palaeolithic art of the Cova de les Meravelles, as well as the advances made in the field of 3D documentation in recent years, have motivated a new documentation campaign on the main panel full of tiny engraved motifs. The difficulties involved in acquiring and processing data executed using fine and thin engraving techniques indoors, have been solved through a multi-light photogrammetric survey, photographing the main panel surface with five lighting directions, and applying principal component analysis (PCA). This procedure has allowed us to obtain a large corpus of two and three-dimensional data and to improve the documentation base produced 17 years ago after its discovery. In this paper, we present the procedure followed, the enhanced engraving results in the new documentation campaign, its most significant contributions to the complex archaeological survey, and the limits we have found along the procedure.
The influence of genetics on epilepsy syndromes in infancy and childhood
Authors: Yozawitz Elissa , Moshé Solomon L. 
Published: October 2022

AbstractGenetics is rapidly evolving and is actively playing a role in how we diagnose and manage epilepsy. The definition of an epilepsy syndrome has changed throughout the years. The International League Against Epilepsy (ILAE) has developed a classification of the epilepsies and has recently described specific epilepsy syndromes taking into account emerging genetic information which is rapidly evolving as well as etiology-specific syndromes. Understanding genetics can help clarify the syndrome and its treatment. This review provides a history of the definition of a syndrome, and the evolving contribution of genetic information that is part of the syndromic classification. We provide few examples of several phenotypes/genotypes of epilepsy syndromes in infancy and childhood and treatment issues that may arise from the available genetic information. Epilepsy syndromes and their genetics have been rapidly changing as new gene technologies are being developed. Understanding genetics can help clarify the syndrome, its treatment, and will help change the field of epilepsy to improve patients qualify of life by creating new means of preventing, controlling, and curing epilepsy.
Psychological adverse effects of COVID-19 pandemic on health service providers: an online survey
Authors: Somi Mohammad Hossein , Fakhari Ali , Azizi Hosein , Barzegar Habibeh , Norouzi Sanaz , Aslrahimi Vahab , Farahbakhsh Mostafa 
Published: October 2022

Abstract
Background
In the current situation of the COVID-19 pandemic, health service providers (HCPs) suffered from mental health consequences such as depression, anxiety, fear, and post-traumatic stress disorder (PTSD). The study aimed to evaluate the adverse psychological impacts of the COVID-19 pandemic on HSPs at the Tabriz University of Medical Science, North West of Iran. An online survey was conducted to assess the psychological adverse effects of COVID-19 during the pandemic of COVID-19 from May 2021 to February 2022. Psychological adverse effects including depression, anxiety, PTSD, and fear were measured using valid instruments. Overall, 298 HSPs responded to the questionnaires. Descriptive and multiple logistic regression analyses with crude and adjusted ORs were used to estimate mental health adverse effects.

Results
The overall prevalence of depressive symptoms, major depression disorder (MDD), anxiety, and probable PTSD were 58%, 9.1%, 61.7%, and 15%, respectively. The fear of COVID-19 scale (mean) was 17.6± 6.2. We found mental health adverse effects were higher in HSPs who worked in the treatment and health sections than HSPs in the support section. Having a history of mental disorder, HSP type (health and treatment), and female sex had a statistically significant association with MDD and depressive symptoms.

Conclusions
Mental health problems were high in HSPs. The study highlights the demand for support systems and appropriate interventions for improving HSPs’ mental health and well-being during the COVID-19 pandemic.
Self-efficacy as a mediator of the relationship between pain and disability in chronic pain patients: a narrative review
Authors: Raman Saikripa , Sharma Priyanshu 
Published: October 2022

AbstractSelf-efficacy is an important indicator of psychological wellness, devoted to prescribed medications, along with pain-coping strategies in individuals who have chronic pain, a psychological concept described as one’s confidence in performing a specific activity. Poor self-efficacy is an impediment to rehabilitation and predicts long-term impairment. Higher self-efficacy can improve function and prolong physical well-being in people who have chronic pain. Recent findings show that coping mechanisms play a major role in chronic pain adaptation. SE beliefs are a significant determinant of coping habits. This article reviews the theory of SE, the importance of application of SE in treating chronic pain and disability.
Cognitive and Behavioral Outcomes in Male and Female NCAA Soccer Athletes across Multiple Years: A CARE Consortium Study
Authors: CACCESE JACLYN B. , BRYK KELSEY N. , PORFIDO TARA , BRETZIN ABIGAIL C. , PEEK KERRY , KAMINSKI THOMAS W. , KONTOS ANTHONY P. , CHRISMAN SARA P. D. , PUTUKIAN MARGOT , BUCKLEY THOMAS A. , BROGLIO STEVEN P. , MCALLISTER THOMAS W. , MCCREA MICHAEL A. , PASQUINA PAUL F. , ESOPENKO CARRIE ,   the CARE Consortium Investigators
Published: October 2022

ABSTRACT

Purpose
The purpose of this study was to determine changes in neurocognitive, psychosocial, and balance functioning in collegiate male and female soccer players across three consecutive years of baseline testing compared with a control group of noncontact athletes.

Methods
Generalized estimating equations were used to compare changes in annual, preseason baseline measures of neurocognitive function, neurobehavioral and psychological symptoms, and postural stability between collegiate soccer players (n = 75; 51 [68%] female soccer players) and noncontact athletes (n = 210; 133 [63%] female noncontact athletes) across three consecutive years.

Results
Among all participants, the group–time interaction was not significant for any outcome measures. Overall, soccer players reported lower (better) Brief Symptom Inventory 18 Depression (P = 0.004, Exp(B) = 0.36, 95% confidence interval [CI] = 0.18–0.73), Global Severity Index (P = 0.006, Exp(B) = 0.53, 95% CI = 0.33–0.84), and Post-Concussion Symptom Scale Symptom Severity (P < 0.001, Exp(B) = 0.45, 95% CI = 0.22–0.95) scores than noncontact athletes. No other outcome measures were different between soccer players and noncontact athletes.

Conclusions
Among collegiate athletes, soccer players report similar or better psychosocial functioning and symptom scores than noncontact athletes. Importantly, neurocognitive functioning, neurobehavioral and psychological symptoms, and postural stability do not worsen over time in collegiate soccer players relative to their noncontact counterparts. Our findings suggest that despite possible exposure to repetitive head impacts, collegiate soccer players do not exhibit changes in observable function and symptoms across multiple seasons.
Government plans in the 2016 and 2021 Peruvian presidential elections: A natural language processing analysis of the health chapters
Authors: Carrillo-Larco Rodrigo M. , Castillo-Cara Manuel , Lovón-Melgarejo Jesús 
Published: October 2022

Background: While clinical medicine has exploded, electronic health records for Natural Language Processing (NLP) analyses, public health, and health policy research have not yet adopted these algorithms. We aimed to dissect the health chapters of the government plans of the 2016 and 2021 Peruvian presidential elections, and to compare different NLP algorithms. Methods: From the government plans (18 in 2016; 19 in 2021) we extracted each sentence from the health chapters. We used five NLP algorithms to extract keywords and phrases from each plan: Term Frequency–Inverse Document Frequency (TF-IDF), Latent Dirichlet Allocation (LDA), TextRank, Keywords Bidirectional Encoder Representations from Transformers (KeyBERT), and Rapid Automatic Keywords Extraction (Rake). Results: In 2016 we analysed 630 sentences, whereas in 2021 there were 1,685 sentences. The TF-IDF algorithm showed that in 2016, 26 terms appeared with a frequency of 0.08 or greater, while in 2021 27 terms met this criterion. The LDA algorithm defined two groups. The first included terms related to things the population would receive (e.g., ’insurance’), while the second included terms about the health system (e.g., ’capacity’). In 2021, most of the government plans belonged to the second group. The TextRank analysis provided keywords showing that ’universal health coverage’ appeared frequently in 2016, while in 2021 keywords about the COVID-19 pandemic were often found. The KeyBERT algorithm provided keywords based on the context of the text. These keywords identified some underlying characteristics of the political party (e.g., political spectrum such as left-wing). The Rake algorithm delivered phrases, in which we found ’universal health coverage’ in 2016 and 2021. Conclusion: The NLP analysis could be used to inform on the underlying priorities in each government plan. NLP analysis could also be included in research of health policies and politics during general elections and provide informative summaries for the general population.
Correlated Cashflow Shocks, Asset Prices, and the Term Structure of Equity
Authors: Hasler Michael , Khapko Mariana 
Published: October 2022

The term structure of equity risk premium is moderately downward-sloping unconditionally, markedly downward-sloping in good times, and markedly upward-sloping in bad times. An asset-pricing model featuring time-varying correlation between realized and expected cashflow shocks explains these puzzling empirical findings. Indeed, the model-implied slope of the equity term structure is in line with the data, both conditionally and unconditionally, because the estimated cashflow shock correlation is volatile, counter-cyclical, and negative on average. The model also generates realistic asset-pricing moments and a positive relation between the equity risk premium, slope of the equity term structure, and the dividend yield. This paper was accepted by David Sraer, finance. Funding: The authors thank the University of Texas at Dallas and the University of Toronto for financial support. Supplemental Material: The data files are available at https://doi.org/10.1287/mnsc.2022.4565 .
Asymptotically Optimal Inventory Control for Assemble-to-Order Systems
Authors: Reiman Martin I. , Wan Haohua , Wang Qiong 
Published: October 2022

We consider assemble-to-order (ATO) inventory systems with a general bill of materials and general deterministic lead times. Unsatisfied demands are always backlogged. We apply a four-step asymptotic framework to develop inventory policies for minimizing the long-run average expected total inventory cost. Our approach features a multistage stochastic program (SP) to establish a lower bound on the inventory cost and determine parameter values for inventory control. Our replenishment policy deviates from the conventional constant base stock policies to accommodate nonidentical lead times. Our component allocation policy differentiates demands based on backlog costs, bill of materials, and component availabilities. We prove that our policy is asymptotically optimal on the diffusion scale, that is, as the longest lead time grows, the percentage difference between the average cost under our policy and its lower bound converges to zero. In developing these results, we formulate a broad stochastic tracking model and prove general convergence results from which the asymptotic optimality of our policy follows as specialized corollaries. Funding: This study is based on work supported by the National Science Foundation [Grant CMMI-1363314].
Measured IOPs of Jerlov water types
Authors: Williamson Craig A. , Hollins Richard C. 
Published: October 2022

Inherent optical properties (IOPs) of typical ocean waters have been derived from a worldwide database of measured parameters. The optical quality of the world’s oceans can be described in terms of their Jerlov water type, ranging from the clearest Jerlov I to the most turbid Jerlov 9C. These Jerlov classifications are defined in terms of an apparent optical property known as the downwelling diffuse attenuation coefficient (

K
d

). There is a need to relate these Jerlov water types to their IOPs, namely their absorption coefficient,

a

, and scattering coefficient,

b

. However, robust values of

a

and

b

for Jerlov water types have not previously existed. This study used the World-wide Ocean Optics Database to derive a series of experimentally measured

a

and

b

values for six Jerlov water types. Using data science techniques to group measurements in time and space, over 13.5 million data points were consolidated into 53 measured values for

a

and

b

. Established models were subsequently applied to generate a complete table of absorption and scattering coefficients from 300 to 800 nm for Jerlov IB to Jerlov 5C. The analysis includes the influence of changes in the solar zenith angle and the scattering phase function. These data are recommended for use in applications where IOPs are required to describe Jerlov water types.
Temporal localized Turing patterns in mode-locked semiconductor lasers
Authors: Bartolo A. , Vigne N. , Marconi M. , Beaudoin G. , Pantzas K. , Sagnes I. , Huyet G. , Maucher F. , Gurevich S. V. , Javaloyes J. , Garnache A. , Giudici M. 
Published: October 2022

Spatiotemporal mode-locking is a promising lasing regime for developing
coherent sources for multimode nonlinear photonics. In this paper we
show that large-aspect-ratio vertical external-cavity surface-emitting
lasers (VECSELs) can be operated in this regime. The emitted pulses
exhibit a spatial profile resulting from the phase locking between an
axial plane wave and a set of tilted waves having a hexagonal
arrangement in the Fourier space. Moreover, we show that these
pulsating patterns are temporally localized, i.e., they can be
individually addressed by pulsing the optical pump. The theoretical
analysis discloses that the emergence of these pulsating patterns is a
signature of a Turing instability whose critical wave vector depends
on the spherical aberrations of the optical elements. Our result
reveals that large-aspect-ratio VECSELs offer unique opportunities for
studying fully developed spatiotemporal dynamics and for applications
to multidimensional control of light.
Transport-of-intensity Fourier ptychographic diffraction tomography: defying the matched illumination condition
Authors: Zhou Shun , Li Jiaji , Sun Jiasong , Zhou Ning , Ullah Habib , Bai Zhidong , Chen Qian , Zuo Chao 
Published: October 2022

Optical diffraction tomography (ODT) is a promising label-free
three-dimensional (3D) microscopic method capable of measuring the 3D
refractive index (RI) distribution of optically transparent samples
(e.g., unlabeled biological cells). In recent years,
non-interferometric ODT techniques have received increasing attention
for their system simplicity, speckle-free imaging quality, and
compatibility with existing microscopes. However, ODT methods for
implementing non-interferometric measurements in high numerical
aperture (NA) microscopy systems are often plagued by low-frequency
missing problems—a consequence of violating the matched illumination
condition. Here, we present transport-of-intensity Fourier
ptychographic diffraction tomography (TI-FPDT) to address this
challenging issue by combining ptychographic angular diversity with
additional “transport of intensity” measurements. TI-FPDT exploits the
defocused phase contrast to circumvent the stringent requirement on
the illumination NA imposed by the matched illumination condition. It
effectively overcomes the reconstruction quality deterioration and RI
underestimation problems in conventional FPDT, as demonstrated by
high-resolution tomographic imaging of various unlabeled transparent
samples (including microspheres, USAF targets, HeLa cells, and C2C12
cells). Due to its simplicity and effectiveness, TI-FPDT is
anticipated to open new possibilities for label-free 3D microscopy in
various biomedical applications.
An integrated multi-omics analysis of topoisomerase family in pan-cancer: Friend or foe?
Authors: Zhou Xin , Yao Guixiang , Zhang Jin , Bian Jiasheng , Li Guanghao , Xu Jianfeng 
Published: October 2022

Background
Topoisomerases are nuclear enzymes that get to the bottom of topological troubles related with DNA all through a range of genetic procedures. More and more studies have shown that topoisomerase-mediated DNA cleavage plays crucial roles in tumor cell death and carcinogenesis. There is however still a lack of comprehensive multi-omics studies related to topoisomerase family genes from a pan-cancer perspective.

Methods
In this study, a multiomics pan-cancer analysis of topoisomerase family genes was conducted by integrating over 10,000 multi-dimensional cancer genomic data across 33 cancer types from The Cancer Genome Atlas (TCGA), 481 small molecule drug response data from cancer therapeutics response portal (CTRP) as well as normal tissue data from Genotype-Tissue Expression (GTEx). Finally, overall activity-level analyses of topoisomerase in pan-cancers were performed by gene set variation analysis (GSVA), together with differential expression, clinical relevancy, immune cell infiltration and regulation of cancer-related pathways.

Results
Dysregulated gene expression of topoisomerase family were related to genomic changes and abnormal epigenetic modifications. The expression levels of topoisomerase family genes could significantly impact cancer progression, intratumoral heterogeneity, alterations in the immunological condition and regulation of the cancer marker-related pathways, which in turn caused the differences in potential drugs sensitivity and the distinct prognosis of patients.

Conclusion
It was anticipated that topoisomerase family genes would become novel prognostic biomarkers for cancer patients and provide new insights for the diagnosis and treatment of tumors.