cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5005556.v1
title: A novel nonsense NBEAL2 gene mutation causing severe bleeding in a patient with gray platelet syndrome

description: Gray platelet syndrome (GPS) is a rare, inherited bleeding disorder characterized by the defect of platelet α-granule. Up to date, these are only four studies identifying NBEAL2 gene correlated with GPS. In the current report, we present a Chinese GPS patient who had severe bleeding tendency, abnormalities of platelet functions, and absence of platelet α-granules. Genomic DNA sequencing for the patient identified a nonsense mutation (g.27713C&gt;A) of NBEAL2 gene (g.NG__031914.1) resulting in a premature protein (p.Glu1726*). In comparison with the reported patients, we conclude that homozygotes with nonsense or deletion mutation leading to a premature stop codon exhibit more serious bleeding problem than those with missense mutations.
DOI: 10.6084/m9.figshare.5011892
title: Molecular composition and distribution of gap junctions in the sensory epithelium of the human cochlea—a super-resolution structured illumination microscopy (SR-SIM) study

description: <b>Background:</b> Mutations in the GJB2 gene, which encodes the Connexin26 (Cx26) protein, are the most common cause of childhood hearing loss in American and European populations. The cochlea contains a gap junction (GJ) network in the sensory epithelium and two connective tissue networks in the lateral wall and spiral limbus. The syncytia contain the GJ proteins beta 2 (<i>GJB2</i>/Cx26) and beta 6 (<i>GJB6</i>/Cx30). Our knowledge of their expression in humans is insufficient due to the limited availability of tissue. Here, we sought to establish the molecular arrangement of GJs in the epithelial network of the human cochlea using surgically obtained samples. <b>Methods:</b> We analyzed Cx26 and Cx30 expression in GJ networks in well-preserved adult human auditory sensory epithelium using confocal, electron, and super-resolution structured illumination microscopy (SR-SIM). <b>Results:</b> Cx30 plaques (&lt;5 μm) dominated, while Cx26 plaques were subtle and appeared as ‘mini-junctions’ (2–300 nm). 3-D volume rendering of Z-stacks and orthogonal projections from single optical sections suggested that the GJs are homomeric/homotypic and consist of assemblies of identical GJs composed of either Cx26 or Cx30. Occasionally, the two protein types were co-expressed, suggesting functional cooperation. <b>Conclusions:</b> Establishing the molecular composition and distribution of the GJ networks in the human cochlea may increase our understanding of the pathophysiology of Cx-related hearing loss. This information may also assist in developing future strategies to treat genetic hearing loss.
DOI: 10.6084/m9.figshare.5011892.v1
title: Molecular composition and distribution of gap junctions in the sensory epithelium of the human cochlea—a super-resolution structured illumination microscopy (SR-SIM) study

description: <b>Background:</b> Mutations in the GJB2 gene, which encodes the Connexin26 (Cx26) protein, are the most common cause of childhood hearing loss in American and European populations. The cochlea contains a gap junction (GJ) network in the sensory epithelium and two connective tissue networks in the lateral wall and spiral limbus. The syncytia contain the GJ proteins beta 2 (<i>GJB2</i>/Cx26) and beta 6 (<i>GJB6</i>/Cx30). Our knowledge of their expression in humans is insufficient due to the limited availability of tissue. Here, we sought to establish the molecular arrangement of GJs in the epithelial network of the human cochlea using surgically obtained samples. <b>Methods:</b> We analyzed Cx26 and Cx30 expression in GJ networks in well-preserved adult human auditory sensory epithelium using confocal, electron, and super-resolution structured illumination microscopy (SR-SIM). <b>Results:</b> Cx30 plaques (&lt;5 μm) dominated, while Cx26 plaques were subtle and appeared as ‘mini-junctions’ (2–300 nm). 3-D volume rendering of Z-stacks and orthogonal projections from single optical sections suggested that the GJs are homomeric/homotypic and consist of assemblies of identical GJs composed of either Cx26 or Cx30. Occasionally, the two protein types were co-expressed, suggesting functional cooperation. <b>Conclusions:</b> Establishing the molecular composition and distribution of the GJ networks in the human cochlea may increase our understanding of the pathophysiology of Cx-related hearing loss. This information may also assist in developing future strategies to treat genetic hearing loss.
DOI: 10.6084/m9.figshare.5012339
title: A single-step reverse transcription loop-mediated isothermal amplification assay for rapid and accurate detection of <i>Pepper vein yellows virus</i>

description: Pepper vein yellows virus (PeVYV) is a member of Polerovirus and infects solanaceous crops worldwide. In this study, a highly efficient and easy-to-use single-step reverse transcription loop-mediated isothermal amplification (RT-LAMP) assay was developed for PeVYV detection. This assay used two outer (F3 and B3), two inner (FIP and BIP) and two loop (LF and LB) primers in a single reaction. The optimized reaction was determined to be at 62°C for 45 min and the whole reaction took less than 1 h. This assay was about 10 times more sensitive than the conventional one-step RT-PCR. This RT-LAMP assay should allow specific detection of PeVYV in plant tissues. We recommend this PeVYV-specific RT-LAMP assay for large scale field studies of PeVYV infection.
DOI: 10.6084/m9.figshare.5024408
title: Liver-to-abdominal area ratio for predicting the in-hospital mortality in advanced liver cirrhosis

description: <b>Objectives</b>: To identify the value of liver-to-abdominal area ratio (LAAR) score for predicting the in-hospital mortality in advanced cirrhotic patients. <b>Methods</b>: All cirrhotic patients with Child-Pugh class B or C who were admitted between July 2012 and June 2014 and underwent abdominopelvic CT scans were considered in this retrospective observational study. The association of LAAR with in-hospital death was calculated. Receiver operating characteristic curve analysis was performed. The area under curve (AUC) was calculated. <b>Results</b>: In the overall analysis of 128 cirrhotic patients with Child-Pugh class B or C, LAAR score was significantly associated with the risk of in-hospital death (p = 0.012). The AUC of LAAR score for predicting the in-hospital mortality was 0.764 (p &lt; 0.0001). The best cut-off value was 0.29 with a sensitivity of 75% and a specificity of 73.33%. In the subgroup analysis of 37 patients with Child-Pugh class C, LAAR score was significantly associated with the risk of in-hospital death (p = 0.008). The AUC of LAAR score was 0.821. The best cut-off value was 0.29 with a sensitivity of 85.71% and a specificity of 80%. In the subgroup analysis of 80 patients with moderate-severe ascites, LAAR score was not significantly associated with the risk of in-hospital death (p = 0.072). The AUC of LAAR score was 0.684 (p = 0.0158). The best cut-off value was 0.29 with a sensitivity of 75% and a specificity of 63.89%. <b>Conclusion</b>: LAAR score might be effective for predicting the in-hospital death of advanced cirrhosis.
DOI: 10.6084/m9.figshare.5024408.v1
title: Liver-to-abdominal area ratio for predicting the in-hospital mortality in advanced liver cirrhosis

description: <b>Objectives</b>: To identify the value of liver-to-abdominal area ratio (LAAR) score for predicting the in-hospital mortality in advanced cirrhotic patients. <b>Methods</b>: All cirrhotic patients with Child-Pugh class B or C who were admitted between July 2012 and June 2014 and underwent abdominopelvic CT scans were considered in this retrospective observational study. The association of LAAR with in-hospital death was calculated. Receiver operating characteristic curve analysis was performed. The area under curve (AUC) was calculated. <b>Results</b>: In the overall analysis of 128 cirrhotic patients with Child-Pugh class B or C, LAAR score was significantly associated with the risk of in-hospital death (p = 0.012). The AUC of LAAR score for predicting the in-hospital mortality was 0.764 (p &lt; 0.0001). The best cut-off value was 0.29 with a sensitivity of 75% and a specificity of 73.33%. In the subgroup analysis of 37 patients with Child-Pugh class C, LAAR score was significantly associated with the risk of in-hospital death (p = 0.008). The AUC of LAAR score was 0.821. The best cut-off value was 0.29 with a sensitivity of 85.71% and a specificity of 80%. In the subgroup analysis of 80 patients with moderate-severe ascites, LAAR score was not significantly associated with the risk of in-hospital death (p = 0.072). The AUC of LAAR score was 0.684 (p = 0.0158). The best cut-off value was 0.29 with a sensitivity of 75% and a specificity of 63.89%. <b>Conclusion</b>: LAAR score might be effective for predicting the in-hospital death of advanced cirrhosis.
DOI: 10.6084/m9.figshare.5033396
title: A spectral power analysis of driving behavior changes during the transition from nondistraction to distraction

description: <b>Objective</b>: This article investigated and compared frequency domain and time domain characteristics of drivers' behaviors before and after the start of distracted driving. <b>Method</b>: Data from an existing naturalistic driving study were used. Fast Fourier transform (FFT) was applied for the frequency domain analysis to explore drivers' behavior pattern changes between nondistracted (prestarting of visual–manual task) and distracted (poststarting of visual–manual task) driving periods. Average relative spectral power in a low frequency range (0–0.5 Hz) and the standard deviation in a 10-s time window of vehicle control variables (i.e., lane offset, yaw rate, and acceleration) were calculated and further compared. Sensitivity analyses were also applied to examine the reliability of the time and frequency domain analyses. <b>Results</b>: Results of the mixed model analyses from the time and frequency domain analyses all showed significant degradation in lateral control performance after engaging in visual–manual tasks while driving. Results of the sensitivity analyses suggested that the frequency domain analysis was less sensitive to the frequency bandwidth, whereas the time domain analysis was more sensitive to the time intervals selected for variation calculations. Different time interval selections can result in significantly different standard deviation values, whereas average spectral power analysis on yaw rate in both low and high frequency bandwidths showed consistent results, that higher variation values were observed during distracted driving when compared to nondistracted driving. <b>Conclusions</b>: This study suggests that driver state detection needs to consider the behavior changes during the prestarting periods, instead of only focusing on periods with physical presence of distraction, such as cell phone use. Lateral control measures can be a better indicator of distraction detection than longitudinal controls. In addition, frequency domain analyses proved to be a more robust and consistent method in assessing driving performance compared to time domain analyses.
DOI: 10.6084/m9.figshare.5033396.v2
title: A spectral power analysis of driving behavior changes during the transition from nondistraction to distraction

description: <b>Objective</b>: This article investigated and compared frequency domain and time domain characteristics of drivers' behaviors before and after the start of distracted driving. <b>Method</b>: Data from an existing naturalistic driving study were used. Fast Fourier transform (FFT) was applied for the frequency domain analysis to explore drivers' behavior pattern changes between nondistracted (prestarting of visual–manual task) and distracted (poststarting of visual–manual task) driving periods. Average relative spectral power in a low frequency range (0–0.5 Hz) and the standard deviation in a 10-s time window of vehicle control variables (i.e., lane offset, yaw rate, and acceleration) were calculated and further compared. Sensitivity analyses were also applied to examine the reliability of the time and frequency domain analyses. <b>Results</b>: Results of the mixed model analyses from the time and frequency domain analyses all showed significant degradation in lateral control performance after engaging in visual–manual tasks while driving. Results of the sensitivity analyses suggested that the frequency domain analysis was less sensitive to the frequency bandwidth, whereas the time domain analysis was more sensitive to the time intervals selected for variation calculations. Different time interval selections can result in significantly different standard deviation values, whereas average spectral power analysis on yaw rate in both low and high frequency bandwidths showed consistent results, that higher variation values were observed during distracted driving when compared to nondistracted driving. <b>Conclusions</b>: This study suggests that driver state detection needs to consider the behavior changes during the prestarting periods, instead of only focusing on periods with physical presence of distraction, such as cell phone use. Lateral control measures can be a better indicator of distraction detection than longitudinal controls. In addition, frequency domain analyses proved to be a more robust and consistent method in assessing driving performance compared to time domain analyses.
DOI: 10.6084/m9.figshare.5033396.v1
title: A spectral power analysis of driving behavior changes during the transition from non-distraction to distraction

description: <b>Objective</b>: This paper investigated and compared frequency-domain and time-domain characteristics of drivers' behavior before and after the start of distracted driving. <b>Method</b>: Data from an existing naturalistic driving study were used. Fast Fourier transform (FFT) was applied for the frequency domain analysis to explore drivers' behavior pattern changes between non-distracted (pre-starting of visual-manual task) and distracted (post-starting of visual-manual task) driving periods. Average relative spectral power in a low frequency range (0∼0.5 Hz) and the standard deviation in a 10-s time window of vehicle control variables (i.e., lane offset, yaw rate and acceleration) were calculated and further compared. Sensitivity analyses were also applied to examine the reliability of the time and frequency domain analyses. <b>Results</b>: Results of the mixed model analyses from the time and frequency domain analyses all showed significant degradation in lateral control performance after engaging in visual-manual tasks while driving. Results of the sensitivity analyses suggested that the frequency domain analysis was less sensitive to the frequency bandwidth while the time domain analysis was more sensitive to the time intervals selected for variation calculations. Different time intervals selections can result in significantly different standard deviation values, while average spectral power analysis on yaw rate in both low and high frequency bandwidths showed consistently results, that higher variation values were observed during distracted driving when compared to non-distracted driving. <b>Conclusions</b>: This study suggests that driver state detection needs to consider the behavior changes during the pre-starting periods, instead of only focusing on periods with physical presence of distraction, such as cell phone use. Lateral control measures can be a better indicator of distraction detection than longitudinal controls. In addition, frequency domain analyses proved to be a more robust and consistent method in assessing driving performances, when compared to time domain analyses.
DOI: 10.6084/m9.figshare.25467667
title: <b>Effect of Osteopathic Manipulation Using SSDV Protocol on Improving Motor Coordination and Hand Eye Coordination in Children with Developmental Coordination Disorder: A Protocol for Randomized Controlled Trial</b> completed_SPIRIT_checklist.docx

description: SPIRIT CHECKLIST
DOI: 10.6084/m9.figshare.5035589
title: Estimating freeway travel time and its reliability using radar sensor data

description: Travel time and its reliability are intuitive system performance measures for freeway traffic operations. This paper proposes a method to estimate travel times based on data collected from roadside radar sensors, considering spatially correlated traffic conditions. Link-level and corridor-level travel time distributions are estimated using these travel time estimates and compared with the ones estimated based on probe vehicle data. The maximum likelihood estimation is used to estimate the parameters of Weibull, gamma, normal, and lognormal distributions. According to the log-likelihood values, lognormal distribution is the best fit among all the tested distributions. Corridor-level travel time reliability measures are extracted from the travel time distributions. The proposed travel time estimation model can well capture the temporal pattern of travel time and its distribution.
DOI: 10.6084/m9.figshare.5035727
title: Zircon U–Pb–Hf isotopes and geochemistry analyses of the Huyu igneous rocks in northwestern Beijing, China: possible new evidence for the initial destruction of the North China Craton

description: The timing and extent of cratonic destruction are crucial to understanding the crustal evolution of the North China Craton (NCC). Zircon U–Pb–Hf isotope data and the whole-rock major and trace element characteristics of the Huyu igneous rocks in northwestern Beijing, China, provide possible new evidence for the initial destruction of the NCC. The igneous rocks occur as several sills and dikes, including lamprophyre, monzonite porphyry, and aplite. The lamprophyres have high Mg<sup>#</sup> and K<sub>2</sub>O contents. The monzonite porphyries have high Mg<sup>#</sup>, high K<sub>2</sub>O contents, and negative <i>ε</i><sub>Hf</sub>(<i>t</i>) values with zircon U–Pb ages of 225.5–227.7 Ma. These two types of rocks are both enriched in large ion lithosphere elements (LILEs) and light rare earth elements (LREEs) but are depleted in high field strength elements (HFSEs) and high rare earth elements (HREEs) and have almost no Eu anomalies and relatively high total rare earth element (ΣREE) contents. In contrast, the aplites exhibit high silica and K<sub>2</sub>O contents, low MgO contents, and more negative <i>ε</i><sub>Hf</sub>(<i>t</i>) values with a zircon U–Pb age of 206.2 Ma. The aplites are also enriched in LILEs and LREEs but are depleted in HFSEs and HREEs, with strongly negative Eu, Ti, P, La, Ce, and Sr anomalies and relatively low ΣREE contents. These results indicate that the lamprophyres and monzonite porphyries represent a continuous cogenetic magma evolution series after melt derived from an enriched metasomatized lithospheric mantle experienced crust assimilation and fractional crystallization. The aplites were produced by the fractional crystallization of low-Mg parental magma derived from melting of the ancient Archaean crust. The occurrence of the Huyu intrusive rocks with many other plutons of similar ages on the northern margin of the NCC suggests that the northern NCC entered an intraplate extensional tectonic environment in the Late Triassic.
DOI: 10.6084/m9.figshare.5035727.v1
title: Zircon U–Pb–Hf isotopes and geochemistry analyses of the Huyu igneous rocks in northwestern Beijing, China: possible new evidence for the initial destruction of the North China Craton

description: The timing and extent of cratonic destruction are crucial to understanding the crustal evolution of the North China Craton (NCC). Zircon U–Pb–Hf isotope data and the whole-rock major and trace element characteristics of the Huyu igneous rocks in northwestern Beijing, China, provide possible new evidence for the initial destruction of the NCC. The igneous rocks occur as several sills and dikes, including lamprophyre, monzonite porphyry, and aplite. The lamprophyres have high Mg<sup>#</sup> and K<sub>2</sub>O contents. The monzonite porphyries have high Mg<sup>#</sup>, high K<sub>2</sub>O contents, and negative <i>ε</i><sub>Hf</sub>(<i>t</i>) values with zircon U–Pb ages of 225.5–227.7 Ma. These two types of rocks are both enriched in large ion lithosphere elements (LILEs) and light rare earth elements (LREEs) but are depleted in high field strength elements (HFSEs) and high rare earth elements (HREEs) and have almost no Eu anomalies and relatively high total rare earth element (ΣREE) contents. In contrast, the aplites exhibit high silica and K<sub>2</sub>O contents, low MgO contents, and more negative <i>ε</i><sub>Hf</sub>(<i>t</i>) values with a zircon U–Pb age of 206.2 Ma. The aplites are also enriched in LILEs and LREEs but are depleted in HFSEs and HREEs, with strongly negative Eu, Ti, P, La, Ce, and Sr anomalies and relatively low ΣREE contents. These results indicate that the lamprophyres and monzonite porphyries represent a continuous cogenetic magma evolution series after melt derived from an enriched metasomatized lithospheric mantle experienced crust assimilation and fractional crystallization. The aplites were produced by the fractional crystallization of low-Mg parental magma derived from melting of the ancient Archaean crust. The occurrence of the Huyu intrusive rocks with many other plutons of similar ages on the northern margin of the NCC suggests that the northern NCC entered an intraplate extensional tectonic environment in the Late Triassic.
DOI: 10.6084/m9.figshare.5035751
title: Palaeoproterozoic granitic magmatism in the northern segment of the Jiao-Liao-Ji Belt: implications for orogenesis along the Eastern Block of the North China Craton

description: As the northern segment of the Jiao-Liao-Ji Belt (JLJB), the Palaeoproterozoic Liaoji Belt is a key region for deciphering the formation and evolution of the North China Craton (NCC). In this study, we present the geochronology, geochemical, and isotopic studies on the monzogranitic gneiss, which is one of the major lithotectonic elements of the Liaoji Belt. LA-ICP-MS zircon U–Pb dating reveals that the studied monzogranitic gneisses were formed in the period of 2213–2178 Ma. They are in tectonic contact with the Palaeoproterozoic volcano-sedimentary rocks in the field. The monzogranitic gneisses belong to the high-K calc-alkaline series, and are metaluminous to peraluminous. They have 10,000 Ga/Al ratios of 2.63–3.14 with an average of 2.90, and are thus classified as aluminous A-type granites. Their <i>ε</i><sub>Nd</sub>(<i>t</i>) values vary from −3.4 to +2.5, indicating heterogeneous source region. The monzogranitic gneisses are characterized by enrichment in LREE and LILE (e.g. Rb, Ba, Th, and K) and depletion in HREE and HFSE (such as Nb, Ta, and Ti), and are typical to magmatism in active continental margins formed in a subduction-related tectonic setting. Taking into account their A-type affinity and regional geological data, we suggest that the monzogranitic gneisses were most probably generated in a local extensional back-arc environment during subduction.