bluuebunny/crossref_metadata_2025_split huggingface dataset:
Perturbation of cortical excitability in a conditional model of PCDH19 disorder
Authors: Lamers Didi , Landi Silvia , Mezzena Roberta , Baroncelli Laura , Pillai Vinoshene , Cruciani Federica , Migliarini Sara , Mazzoleni Sara , Pasqualetti Massimo , Passafaro Maria , Bassani Silvia , Ratto Gian Michele 
Published: March 2022

Abstract

PCDH19 epilepsy (DEE9) is an X linked epilepsy syndrome associated to cognitive and behavioural disturbances. Unlike in most other X linked diseases, heterozygous females are affected while hemizygous males are spared. It has been proposed that DEE9 pathogenesis is related to disturbed cell-to-cell communication associated with mosaicism and consequential erroneous network wiring. However, the effects of mosaic PCDH19 expression on cortical network activity are unknown. We mimicked the pathology of DEE9 by introducing a patch of mosaic protein expression in the cortex of conditional PCDH19 knockout mice. LFP recordings demonstrate transient episodes of hyperexcitability and disturbed slow wave activity – a crucial component of NREM sleep. These alterations were also observed if the mosaic patch was introduced in adult mice, demonstrating that PCDH19 is not merely a developmental disease. Our results indicate that a focal mosaic mutation of PCDH19 disrupts network cortical computation and broaden our current understanding of DEE9.
Learning from Explanations With Maximum Likelihood Inverse Reinforcement Learning
Authors: Tulli Silvia , Melo Francisco S. , Paiva Ana , Chetouani Mohamed 
Published: March 2022

Abstract
Our research effort takes inspiration from human social learning mechanisms to focus on situations in which an expert guides a learner through explanations. The proposed approach incorporates explanations into maximum likelihood inverse reinforcement learning. We computationally evaluate explanations against other teaching signals (reward, demonstration and explanation) in three navigational scenarios. The generated explanations are also evaluated in a user study with 150 participants. The user study investigates participants' preferences between the different types of teaching signals and the impact of contextual situations, i.e., distance from the task's goal, on their preferences. Our simulations' results show that explanations lead to better performance compared to reward and demonstration signals, and that explanations are preferred by human teachers in situations where the goal is far from the learner.
Estimation of hospital visits for respiratory diseases attributable to PM10 from vegetation fire smoke and health impacts of regulatory intervention in Upper Northern Thailand
Authors: Uttajug Athicha , Ueda Kayo , Honda Akiko , Takano Hirohisa 
Published: March 2022

Abstract
Background: The air quality in Upper Northern Thailand (UNT) deteriorates during seasonal vegetation fire events, causing adverse effects especially on respiratory health outcomes. This study aimed to quantitatively estimate respiratory morbidity from vegetation fire smoke exposure, and to assess the impact of a burning ban enforced in 2016 on morbidity burden in UNT. Methods: We computed daily population exposure to fire-originated PM10 and estimated its health burden during a 5-year period from 2014 to 2018 using daily fire-originated PM10 concentration and the concentration-response function for short-term exposure to PM10 from vegetation fire smoke and respiratory morbidity. In subgroups classified as children and older adults, the health burden of respiratory morbidity was estimated using specific effect coefficients from previous studies conducted in UNT. Finally, we compared the health burden of respiratory morbidity before and after burning ban enforcement. Results: Approximately 130,000 hospital visits for respiratory diseases were estimated to be attributable to fire-originated PM10 in UNT from 2014 to 2018. This estimation accounted for 1.3% of total hospital visits for respiratory diseases during the 5-year period, and 20% of those during burning events. Age-specific estimates revealed a larger impact of PM10 in the older adult group. The number of hospital visits for respiratory diseases attributable to fire-originated PM10 decreased from 1.8% to 0.5% after the burning ban policy was implemented in the area.Conclusion: Our findings suggest that PM10 released from vegetation fires is a health burden in UNT. The prohibition of the burning using regulatory measure had a positive impact on respiratory morbidity in this area.
Ligand/Receptor-mediated Cell Communication Alteration Causes the Lung Inflammation Microenvironment and the Redistribution of Inter-tissue Immune Cells in COVID-19 Patients
Authors: Qin Shijie , Yao Xiaohong , Li Weiwei , Wang Canbiao , Xu Weijun , Gan Zhenhua , Yang Yang , Zhong Aifang , Wang Bin , He Zhicheng , Wu Jian , Wu Qiuyue , Jiang Weijun , Han Ying , Wang Fan , Wang Zhihua , Ke Yuehua , Zhao Jun , Gao Junyin , Qu Liang , Jin Ping , Xia Xinyi , Bian Xiuwu 
Published: March 2022

Abstract
How SARS-CoV-2 causes disturbances of the lung microenvironment and systemic immune response remains a mystery. Here, we first analyze detailedly paired single-cell transcriptome data of the lungs, blood and bone marrow of two patients who died of COVID-19. Second, our results demonstrate that SARS-CoV-2 infection significantly increases the cellular communication frequency between AT1/AT2 cells and highly inflammatory myeloid cells, and induces the pulmonary inflammation microenvironment, and drives the disorder of fibroblasts, club and ciliated cells, thereby causing the increase of pulmonary fibrosis and mucus accumulation. Third, our works reveal that the increase of the lung T cell infiltration is mainly recruited by myeloid cells through certain ligands/receptors (ANXA1/FPR1, C5AR1/RPS19 and CCL5/CCR1), rather than AT1/AT2. Fourth, we find that some ligands and receptors such as ANXA1/FPR1, CD74/COPA, CXCLs/CXCRs, ALOX5/ALOX5AP, CCL5/CCR1, are significantly activated and shared among patients’ lungs, blood and bone marrow, implying that dysregulated ligands and receptors may cause the migration, redistribution and the inflammatory storm of immune cells in different tissues. Overall, our study reveals a latent mechanism by which the disorders of ligands and receptors caused by SARS-CoV-2 infection drive cell communication alteration, the pulmonary inflammatory microenvironment and systemic immune responses across tissues in COVID-19 patients.
Medical Evaluation of Unanticipated Monogenic Disease Risks Identified through
Newborn Genomic Screening: Findings from the BabySeq Project
Authors: Green Robert , Shah Nidhi , Genetti Casie , Yu Timothy , Zettler Bethany , Schwartz Talia , Uveges Melissa , Birsoy Ozge , Lebo Matthew , Pereira Stacey , Agrawal Pankaj , Parad Richard , McGuire Amy , Christensen Kurt , Rehm Heidi , Holm Ingrid , Beggs Alan 
Published: March 2022

Abstract
Genomic sequencing of healthy newborns to screen for medically important genetic information has long been anticipated but data around downstream medical consequences are lacking. Among 159 infants randomized to the sequencing arm in the BabySeq Project, an unanticipated monogenic disease risk (uMDR) was discovered in 18 (11.3%). We assessed uMDR actionability by visualizing scores from a modified ClinGen Actionability SemiQuantitative Metric and tracked medical outcomes in these infants for 3-5 years. All uMDRs scored as highly actionable (mean 9, range: 7-11 on a 0-12 scale) and had readily available clinical interventions. In 4 cases, uMDRs revealed unsuspected genetic etiologies for existing phenotypes, and in the remaining 14 cases provided risk stratification for future surveillance. In 8 cases, uMDRs prompted screening for multiple at-risk family members. These results suggest that actionable uMDRs are more common than previously thought and support ongoing efforts to evaluate population-based newborn genomic screening.
Elder Abuse Prevalence and Risk Factors: Findings from the Canadian Longitudinal Study on Aging
Authors: Burnes David , Pillemer Karl , Rosen Tony , Lachs Mark , McDonald Lynn 
Published: March 2022

Abstract
Elder abuse (EA) is a pervasive problem with serious consequences. Prior population-based EA risk factor research has largely used cross-sectional designs that limit causal inferences, or agency records to identify victims which threatens external validity. Based on a national, prospective, population-based cohort sample of older adults (n = 23,468) over a three-year period from the Canadian Longitudinal Study on Aging, the current study sought to estimate the prevalence of EA and identify risk and protective factors. Past-year prevalence of any EA was 10.0%. Older adults with greater vulnerability related to physical, cognitive and mental health, childhood maltreatment, and shared living were at higher EA risk, while social support was protective against EA. Older adults identifying as Black or reporting financial need were at heightened EA risk. This longitudinal, population-based study advances our understanding of EA risk/protective factors across several domains and informs the development of EA prevention strategies.
The Evaluation of Pediatric Malignancies Using Total-body PET/CT With Half Dose 18F-FDG
Authors: Chen Wan-Qi , Liu Lei , Li Ying-He , Li Sha-Tong , Li Zhi-Jian , Zhang Wei-Guang , Zhang Xu , Hu De-bin , Sun Hong-Yan , Zhou Yun , Fan Wei , Zhao Yu-mo , Zhang Yi-Zhuo , Hu Ying-Ying 
Published: March 2022

Abstract
PurposeTo explore the effect of half 18F-FDG dose on image quality of pediatric oncological patients using total-body PET/CT. and investigate the ultra-low dose of administered tracer activity. Methods100 pediatric oncological patients who underwent total-body PET/CT using the uEXPLORER scanner with half 18F-FDG dose (1.85 MBq/kg) were retrospectively enrolled. The PET images were firstly reconstructed using all the 600s data, and then split into 300s, 180s, 60s, 40s and 20s duration groups. The subjective analysis method was assessed using a 5-point Likert scales. Objective quantitative metrics included the maximum standard uptake value (SUVmax), SUVmean, standard deviation (SD), signal to noise ratio (SNR) and SNRnorm of the backgrounds. The variability in lesion SUVmean, SUVmax, and tumor-to-background ratio (TBR) were also calculated. ResultsThe overall image quality scores in Group 600s, 300s, 180s and 60s were 4.9 ± 0.2, 4.9 ± 0.3, 4.4±0.5 and 3.5±0.5 respectively. All the lesions identified in half-dose images were localised down to G60s (1/20-dose) images; while 56% of the lesion could be clearly identified in G20s (1/60-dose) images. With stimulated reduced doses, SUVmax and SD of backgrounds were gradually increased, while TBR values showed no statistically significant deviation among all the groups (all p > 0.1). Using the half-dose images as reference, the variability of lesion SUVmax gradually increased from G180s to G20s, while lesion SUVmean remained stable for all the age groups. SNRnorm was highly correlated with the age in a negative direction.ConclusionsThe total-body PET/CT with half 18F-FDG dose achieved good performance in pediatric patients considering the sufficient image quality and lesion conspicuity. Sufficient image quality and lesion conspicuity could be maintained with an administered dose reduced down to 1/20-dose (0.185 MBq/kg, , estimated effective dose: 0.18–0.26 mSv).
Examining the Independent and Interactive Association of Physical Activity and Sedentary Behaviour with Frailty in Chinese Community-Dwelling Older Adults
Authors: Li Na , Zhu Pengli , Hung Feng , Li Hong , Lin Siyang , Yuan Yin 
Published: March 2022

Abstract
Background
While physical inactivity or prolonged sitting has been linked to an increased risk of frailty, the interaction between sitting time (ST), physical activity (PA) and frailty is largely unknown. The aim of this study was to examine the independent and interactive association between PA, ST and frailty in Chinese community-dwelling older adults.
Methods
A cross-sectional analysis was performed on 1458 participants (age ≥ 60) enrolled from a prospective cohort study of frailty in elderly people of Fujian Province. PA and ST levels were assessed using the International Physical Activity Questionnaire. A 40-item frailty index (FI) quantified frailty. Multivariable logistic regression and linear regression models were applied to examine the independent association between PA or ST and frailty level. Interaction plots were used to visualise the interaction effects of PA and ST on frailty.
Results
Compared with light PA, the odds ratios (ORs) for frailty were significantly lower for moderate PA (OR, 0.609 [95% CI, 0.419, 0.885], P < .001) and vigorous PA (OR, 0.399 [95% CI, 0.236,0.673], P < .001). Comparing subjects with ST < 4 h/day, those with ST ≥ 8 h/day were significantly more likely to be diagnosed with frailty (OR, 3.140 [95% CI, 1.932, 5.106], P < .001), 6–8 h/day (OR, 1.289 [95% CI, 0.835, 1.989], P ༞0.05), and 4–6 h/day (OR, 1.400 [95% CI, 0.972, 2.018], P ༞0.05). Each one unit increase in metabolic equivalents (h/day) of PA was related to an average 0.928 (0.887, 0.971) decrease in prevalence of frailty, while each one unit increase in sitting time (h/day) was related to average 1.114 (1.046,1.185) increase in prevalence of frailty. Negative interactive effects of PA and ST on frailty were observed (P < 0.001).
Conclusion
PA can independently reduce the occurrence of frailty, while prolonged ST can significantly increase the occurrence of frailty. In addition, excess ST may counteract the beneficial effects of PA on frailty.
Evaluation of the quality of online colon cancer patient information in the Arabic language
Authors: alnaim lamya 
Published: March 2022

Abstract
Background and Study AimsWith the ever-expanding reach of Internet information, more people than ever are using online searches to obtain medical information, often before consulting a medical professional. This study aims to assess the quality of available Internet information on colon cancer in the Arabic language.Patients and MethodsA cross-sectional study was performed to assess the quality of Arabic language websites on colon cancer in Arabic using the DISCERN instrument, a validated 16-item questionnaire, and our assessment of the correctness, completeness, and transparency of each website.ResultsA total of 24 websites were identified, of which 12 (50%) were commercial, 9 (37.5%) were university-sponsored, 2 (8.3%) were governmental, and 1 (4.2%) was from a non-profit organization. The DISCERN instrument had an overall mean score of 42.5 (fair) out of a maximum score of 80, with 50% of commercial websites scoring 41 or below (poor) and only 11% scoring in the good range. Two-thirds (66.7%) of the university-sponsored sites were rated poor, the single non-profit website scored fair, and the two governmental sites were rated poor. The most accurate topics covered by the websites were surgical treatment, screening, and colonoscopy. Regarding correctness, 94.6% of the websites were accurate in the information provided, while only 55% scored high in Completeness, meaning that they provided comprehensive information. Transparency was poor for most websites, with only two providing sufficient information to verify their sources.ConclusionThis study demonstrated that while people use the Internet to access medical information about colon cancer, much of this information is incomplete in the Arabic language. This raises the question of how much benefit versus harm individuals receive from using websites to learn about colon cancer, and what can be done to improve the information available.
Terahertz Near-Field Vortex Beams with Variable Intensity Profiles Based on Geometric Metasurfaces
Authors: Zhu Yang , Zhou Yiwen , Yue Fuyong , Fan Zhiyuan , Zang Xiaofei , Zhu Yiming , Zhuang Songlin 
Published: March 2022

Abstract
Electromagnetic waves possessing orbital angular momentum, namely vortex beams, have attracted considerable attention in the fields ranging from optical communications to quantum science, due to their extraordinary information encoding capabilities. Vortex beams are traditionally exhibited with a donut-shaped intensity distribution, where a null intensity center surrounded by a bright ring, caused by the phase singularity. Here we propose and experimentally demonstrate geometric metasurface devices that can generate near-field vortex beams with variable intensity profiles. The generation of a vortex beam with tailored intensity profile is realized by integrating the azimuthal nonlinear phase and spiral phase into the ring-shaped anisotropic air-slit array. As proof-of-principle examples, multiple geometric metasurfaces that generate vortex beams with CN-fold rotational symmetric or asymmetric intensity profile in the near-field are demonstrated in the terahertz domain. This unique capability for terahertz near-field vortex transmutation based on geometric metasurface approach opens an avenue to develop multifunctional integrated systems and system-on-chip devices, holding potential applications in microscopy, integrated photonics, quantum information processing and optical communication.
Clinical Factors and Surgical Decision-Making when Managing Premenopausal Women with Adnexal Torsion
Authors: Vu Albert , Goh Amy 
Published: March 2022

Abstract
PurposeThe primary objective of this study is to identify if and which clinical factors may influence surgical decision-making when managing premenopausal women who present emergently with adnexal torsion (AT). MethodsThis retrospective cohort study was conducted at a single tertiary hospital. Medical records for all admissions for AT between 1 January 2010 and 30 June 2020 were reviewed and data regarding patient demographics, history of torsion, and the index admission were collected. Conservative surgery was defined as detorsion only or detorsion with cyst decompression. Interventional surgery was defined as ovarian cystectomy, salpingectomy, oophorectomy or salpingo-oopherectomy.Results126 women were included for final analysis. Of the 109 women diagnosed with AT at emergency surgery, 12 were postmenopausal (all had interventional surgery). In the 97 premenopausal women, 50 (52%) underwent conservative surgery. Pregnant women were more likely to undergo conservative surgery than non-pregnant women (Relative Risk [RR] 0.20, 95% confidence interval [CI] 0.5, 0.75, p=0.001). Women having laparoscopies were also more likely to undergo conservative surgery (RR 0.08, 95% CI 0.01, 0.53, p=0.001) than if they had laparotomies. Although not reaching statistical significance, women were more likely to undergo laparotomy if they were febrile or if a senior gynecology consultant was involved in their care. History of torsion, age, parity and ovarian size did not alter the risk of interventional surgery.ConclusionThis study identified that premenopausal women who presented emergently with AT were significantly more likely to have conservative surgery if they were pregnant or if they underwent laparoscopic surgery.
Rediscovery of a native freshwater shrimp, Neocaridina denticulata, and expansion of an invasive species in Lake Biwa, Japan: Genetic and morphological approach
Authors: Onuki Keisuke , Fuke Yusuke 
Published: March 2022

Abstract
Invasive species prevention involves the prevention of two aspects: introduction and secondary spread. The latter is important in places that can become hubs for the spread of invasive species. Lake Biwa, the largest lake in Japan, is an important area for biodiversity and fisheries. However, several invasive species of fish and crustaceans became established in the lake during the last century. One of the conservation problems in Lake Biwa is the unresolved suspicion that the native freshwater shrimp Neocaridina denticulata have been replaced with alien Neocaridina species. To verify whether the native Neocaridina population in Lake Biwa has been replaced by alien species, we estimated the population structure of Neocaridina spp., collected from 19 sites in and around Lake Biwa, based on genome-wide SNPs and mitochondrial DNA. The three detected genetic clusters were characterized by quantitative analysis of multiple morphological traits. Two clusters were identified as non-native N. davidi and the other as native N. denticulata. However, species discrimination based solely on morphological analysis was difficult, highlighting the importance of genetic analysis. We rediscovered the native populations in the region for the first time in a century; however, in 11 sites the invasive species were dominant. These findings suggest that the native populations are in a critical situation. Furthermore, stocking in Lake Biwa as a source for fishery resources throughout Japan can cause the secondary spread of the invasive shrimps from the lake, acting as a hub, to other parts of the country.
Melatonin Alleviates Cardiovascular Inflammation in Sedentary or Exercised Postmenopausal Rats by Upregulating SIRT1
Authors: Tamer Sevil Arabacı , Altınoluk Tülin , Emran Miray , Korkmaz Seda , Yüksel Rozerin Göze , Baykal Zeynep , Dur Zehra Sena , Levent Hilal Nişva , Ural Mürüvvet Abbak , Yüksel Meral , Çevik Özge , Ercan Feriha , Yıldırım Alper , Yegen Berrak Ç 
Published: March 2022

Abstract
We aimed to evaluate the impact of hormone replacement, melatonin, or exercise alone or their combination on oxidative damage and functional status of heart, brain, and aorta of postmenopausal rats and to determine whether the signaling pathway is dependent on sirtuin-1 (SIRT1). Ovariectomized Sprague Dawley rats were orally given either a hormone replacement therapy (1 mg/kg/day17β estradiol; HRT) or melatonin (4 mg/kg/day) or HRT + melatonin treatments or tap water, while each group was further divided into sedentary and exercise (30 min/5 days/week) groups. After the heart rate measurements and memory tests were performed, trunk blood was collected at the end of the 10th week to determine metabolic parameters in serum samples. Tissue samples of abdominal aorta, heart and brain were taken for biochemical measurements and histopathological evaluation. Heart rates and memory performances of the postmenopausal rats were not changed significantly by none of the applications. Melatonin treatment or its co-administration with HRT upregulated the expressions of IL-10 and SIRT1, reduced the expressions of IL-6 and TNF-α and reduced DNA damage in the hearts and thoracic aortae of non-exercised rats. Co-administration of melatonin and HRT to exercised post-menopausal rats reduced inflammatory response and upregulated SIRT1 expression in the aortic and cardiac tissues. The present study suggests that melatonin treatment, either alone or in combination with exercise and/or HRT, alleviates oxidative injury and inflammation in the hearts and aortas of postmenopausal rats via the activity of SIRT1 signaling. Melatonin should be considered in alleviating cardiovascular disease risk in postmenopausal women.