bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mechanisms of persistent atrial fibrillation and recurrences within 12 months post-ablation: Non-invasive mapping with electrocardiographic imaging
Authors: Vijayakumar Ramya , Faddis Mitchell N. , Cuculich Phillip S. , Rudy Yoram 
Published: November 2022

IntroductionCatheter ablation of persistent AF has not been consistently successful in terminating AF or preventing arrhythmia recurrences. Non-invasive Electrocardiographic Imaging (ECGI) can help to understand recurrences by mapping the mechanisms of pre-ablation AF and comparing them with the patterns of recurrent arrhythmias in the same patient.MethodsSeventeen persistent AF patients underwent ECGI before their first catheter ablation. Time-domain activation maps and phase progression maps were obtained on the bi-atrial epicardium. Location of arrhythmogenic drivers were annotated on the bi-atrial anatomy. Activation and phase movies were examined to understand the wavefront dynamics during AF. Eight patients recurred within 12 months of ablation and underwent a follow-up ECGI. Driver locations and movies were compared for pre- and post-ablation AF.ResultsA total of 243 focal drivers were mapped during pre-ablation AF. 62% of the drivers were mapped in the left atrium (LA). The pulmonary vein region harbored most of the drivers (43%). 35% of the drivers were mapped in the right atrium (RA). 59% (10/17) and 53% (9/17) of patients had repetitive sources in the left pulmonary veins (LPV) and left atrial appendage (LAA), and the lower half of RA, respectively. All patients had focal drivers. 29% (5/17) of patients had macro-reentry waves. 24% (4/17) of patients had rotors. Activation patterns during persistent AF varied from single macro-reentry to complex activity with multiple simultaneous wavefronts in both atria, resulting in frequent wave collisions. A total of 76 focal driver activities were mapped in 7/8 patients during recurrence. 59% of the post-ablation AF drivers were mapped in the LA. The pulmonary vein region harbored 50% of total drivers. 39% of sources were mapped in the RA. AF complexity remained similar post-ablation. 58% (44/76) of pre-ablation sources persisted during recurrence. 38% (3/8) of patients had macro-reentry and one patient had rotors.ConclusionECGI provides patient-specific information on mechanisms of persistent AF and recurrent arrhythmia. More than half pre-ablation sources repeated during post-ablation recurrence. This study provides direct evidence for drivers that persist days and months after the ablation procedure. Patient-tailored bi-atrial ablation is needed to successfully target persistent AF and prevent recurrence. ECGI can potentially predict recurrence and assist in choice of therapy.
Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
Authors: Zhang Jin , Woo Kwan Leong , Hai Yongxiong , Wang Shimin , Lin Ying , Huang Ying , Peng Xiaofang , Wu HongShi , Zhang Shaoling , Yan Li , Li Yan 
Published: November 2022

ObjectiveTo raise awareness of Cytochrome P450 Oxidoreductase Deficiency (PORD, a rare form of congenital adrenal hyperplasia (CAH), through a case of pregnant woman with virilization symptoms.Case descriptionA 30-year-old Chinese woman was referred to hospital after 7 years of presenting signs of virilization, including voice deepening, acromegaly, hirsutism, clitoromegaly, and acne. These symptoms appeared since her third gestation. Her second birth died 9 hours after birth and had signs of clitoris hypertrophy. Her third born was a son who presented with flat nose, radius and humerus bone malformation, and small penis at birth. Panel of POR-related genetic tests revealed that the patient carried c.1370 G&gt;A (p.R457H), which is a POR heterozygous gene, while her husband carried a POR heterozygous gene as well, c.1379 C&gt;A (p.S460Y). Two heterozygous mutations of the POR were found in her son: c.1370 G&gt;A and c.1379 C&gt;A. In PORD, c.1370 G&gt;A (p.R457H) was reported as a susceptible gene, while c.1379 C&gt;A (p.S460Y) has not been reported as responsible for the disease so far.Discussion and literature reviewPORD is a rare form of CAH and caused by POR gene mutations. Most PORD patients are identified and diagnosed in pediatrics department. Internal medicine and obstetrics physicians are unfamiliar with the disease. As clinical manifestations are diverse, PORD could be easy to miss or to be misdiagnosed. Typical clinical manifestation includes adrenal insufficiency-related symptoms, such as bone malformations and sexual development disorders. PORD is diagnosed through genetic testing. Investigations of steroid metabolic products in urine through gas chromatography-mass spectrometry or liquid chromatography-mass spectrometry are also helpful for the diagnosis, but neither of them are widely available in China. In this case, the patient had a history of infertility, and her third child was born with congenital defect and carried a PORD-related gene. In general clinical practice, if a pregnant woman presents with abnormal virilization symptoms, CAH possibilities should be considered, including rare causes such as PORD.ConclusionPORD is a rare autosomal recessive genetic disease. We summarised the clinical characteristics and genotypes that were previously reported in the Chinese population and identified a novel mutation.
Association of maternal triglyceride responses to thyroid function in early pregnancy with gestational diabetes mellitus
Authors: Zhang Chen , Bai Lilian , Sun Kuan , Ding Guolian , Liu Xinmei , Wu Yanting , Huang Hefeng 
Published: November 2022

IntroductionThe prevalence of Gestational Diabetes Mellitus (GDM) is increasing globally, and high levels of triglyceride (TG) and low levels of free thyroxine (FT4) in early pregnancy are associated with an increased risk of GDM; however, the interaction and mediation effects remain unknown. The aim of the present study is to examine the impact of FT4 and TG combined effects on the prevalence of GDM and the corresponding casual paths among women in early pregnancy.Materials and methodsThis study comprised 40,156 pregnant women for whom early pregnancy thyroid hormones, fasting blood glucose as well as triglyceride were available. GDM was diagnosed using a 2-hour 75-g oral glucose tolerance test (OGTT) according to the American Diabetes Association guidelines, and the pregnant women were grouped and compared according to the results.ResultsAn L-shaped association between FT4 and GDM was observed. The prevalence of GDM increased with increasing TG levels. After accounting for multiple covariables, the highest risk for GDM was found among pregnant women of lower FT4 with the highest TG concentrations (odds ratio, 2.44, 95% CI, 2.14 to 2.80; P&lt;0.001) compared with mothers of higher FT4 with the TG levels in the lowest quartile (Q1). There was a significant interaction effect of maternal FT4 and TG levels on the risk for GDM (P for interaction = 0.036). The estimated proportion of the mediating effect of maternal TG levels was 21.3% (95% CI, 15.6% to 36.0%; P &lt; 0.001). In the sensitivity analysis, the mediating effect of TG levels was stable across subgroups.ConclusionThis study demonstrated an L-shaped association between maternal FT4 levels and GDM and the benefit of low TG levels, in which maternal TG levels act as an important mediator in this association. Our findings suggested that pregnant women who treat hypothyroidism should also reduce triglycerides levels in early pregnancy to prevent GDM development.
Landscape ecological risk assessment and driving mechanism of coastal estuarine tidal flats—A case study of the liaohe estuary wetlands
Authors: Li Haifu , Su Fangli , Guo Chengjiu , Dong Linlin , Song Fei , Wei Chao , Zheng Yunlong 
Published: November 2022

Estuarine tidal flats are located in the land-sea crisscross-sensitive zone. The degraded and shrinking state of major tidal flat landscapes weakens their ecological role in maintaining the safety of coastal wetlands in the world. However, little attention has been paid to tidal flat landscape evolution and ecological risks due to the tidal flats being located in the periphery of estuarine wetlands. This study was conducted in the tidal flats of the Liaohe estuary wetlands. The GIS spatial analysis and a transition matrix were combined to explore the tidal flat landscape evolution characteristics. The ecological risk faced by the tidal flats was evaluated by a landscape ecological risk model constructed by landscape indexes. The key driving factors and threshold values that affect the ecological risks were clarified using geographical detectors and regression analysis methods. The results showed that the tidal flats mainly evolved into a natural wetland before 2000 and rapidly changed into an artificial landscape between 2000 and 2010; the proportion of artificial landscapes then began to decline after 2010. Over the past 30 years, the landscape ecological risk in this area has generally been at a medium risk level. The ecological risk index showed a decreasing trend with the increases in landscape diversity. The low-risk artificial plaques have gradually replaced high-risk and medium-risk plaques of exposed tidal flats and natural wetlands. The study showed that human development activities were the key factors affecting the landscape ecological risks of the tidal flats. River sediment discharge was the key natural factor in maintaining the landscape ecological risk at a stable level. Therefore, the human development activities should be controlled within an appropriate limit, and the material supply of the upstream basin should be guaranteed to maintain the stability of the tidal flat landscape form in the protection and utilization of estuarine tidal flats in the future.
Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis
Authors: Zhou Jianrong , Wu Yueheng , Xu Xiaoli , Zhang Yong , Zhang Xiong , Chen Haisheng , Zhuang Jian , Chen Jimei , Teng Yun 
Published: November 2022

Background: Supravalvular aortic stenosis (SVAS) is a rare congenital heart disease affecting approximately 1 in 25,000 live births. In some patients it is accompanied by pulmonary artery stenosis, particularly of pulmonary artery branches. Chronic stenosis can lead to cardiac hypertrophy and even circulatory failure. Familial autosomal dominant SVAS is frequently associated with elastin (ELN) gene mutations, whereas Williams-Beuren syndrome is a complex developmental disorder caused by heterozygous microdeletions of 26–28 genes at 7q11.23, including ELN.Methods: Whole-exome sequencing was performed in 42 individuals from 11 Chinese families with SVAS to identify the pathogenic gene mutations involved. Aortic tissue was obtained for histological analyses, and quantitative reverse-transcription-PCR and western blotting were used to verify the expression of elastin molecules.Results: Five point mutations and six frameshift mutations in the ELN gene were detected in the peripheral blood of all investigated families. Nine were nonsense mutations that result in premature stop codons, and the other two were missense mutations. All variants were heterozygous. Nine of the variants were novel, and have not been included in databases or previously reported. One mutation occurred in individuals from two different families. Reduced elastin protein expression was evident in patients’ aortic tissue.Conclusions: The novel mutations of ELN were found to be pathogenic, which confirmed by reduced elastin expression and leads to SVAS. Thus, detailed cardiac testing and genetic counseling are warranted for patients and asymptomatic individuals with these mutations.
AKR1B8 deficiency drives severe DSS-induced acute colitis through invasion of luminal bacteria and activation of innate immunity
Authors: Deng Qiulin , Yao Yichen , Yang Jing , Khoshaba Ramina , Shen Yi , Wang Xin , Cao Deliang 
Published: November 2022

BackgroundDysfunction of intestinal epithelial cells (IECs) promotes inflammatory bowel disease (IBD) and associated colorectal cancer (CRC). AKR1B8 deficiency impairs the IEC barrier function, leading to susceptibility to chronic colitis induced by dextran sulfate sodium (DSS), yet it remains unclear how acute colitic response is in AKR1B8 deficient mice.MethodsAKR1B8 knockout (KO) and littermate wild type mice were exposed to oral 1.5% DSS in drinking water for 6 days. Disease activity index and histopathological inflammation scores by H&amp;E staining were calculated for colitic severity; permeability was assessed by fluorescein isothiocyanate dextran (FITC-Dextran) probes and bacterial invasion and transmission were detected by in situ hybridization in mucosa or by culture in blood agar plates. Immunofluorescent staining and flow cytometry were applied for immune cell quantification. Toll-like receptor 4 (TLR4) and target gene expression was analyzed by Western blotting and qRT-PCR.ResultsAKR1B8 KO mice developed severe acute colitis at a low dose (1.5%) of DSS in drinking water compared to wild type controls. In AKR1B8 KO mice, FITC-dextran was penetrated easily and luminal bacteria invaded to the surface of IEC layer on day 3, and excessive bacteria translocated into the colonic mucosa, mesenteric lymph nodes (MLNs) and liver on day 6, which was much mild in wild type mice. Hyper-infiltration of neutrophils and basophils occurred in AKR1B8 KO mice, and monocytes in spleen and macrophages in colonic mucosa increased markedly compared to wild type mice. TLR4 signaling in colonic epithelial cells of AKR1B8 KO mice was activated to promote great IL-1β and IL-6 expression compared to wild type mice.ConclusionsAKR1B8 deficiency in IECs drives severe acute colitis induced by DSS at a low dose through activation of the innate immunity, being a novel pathogenic factor of colitis.
Involvement of D2-like dopaminergic receptors in contextual fear conditioning in female rats: influence of estrous cycle
Authors: de Oliveira Alves Camila , Reimer Adriano Edgar , de Oliveira Amanda Ribeiro 
Published: November 2022

Introduction: Dopamine has been increasingly recognized as a key neurotransmitter regulating fear/anxiety states. Nevertheless, the influence of sex and estrous cycle differences on the role of dopamine in fear responses needs further investigation. We aimed to evaluate the effects of sulpiride (a dopaminergic D2-like receptor antagonist) on contextual fear conditioning in females while exploring the influence of the estrous cycle.Methods: First, using a contextual fear conditioning paradigm, we assessed potential differences in acquisition, expression, and extinction of the conditioned freezing response in male and female (split in proestrus/estrus and metestrus/diestrus) Wistar rats. In a second cohort, we evaluated the effects of sulpiride (20 and 40 mg/kg) on contextual conditioned fear in females during proestrus/estrus and metestrus/diestrus. Potential nonspecific effects were assessed in motor activity assays (catalepsy and open-field tests).Results: No sex differences nor estrous cycle effects on freezing behavior were observed during the fear conditioning phases. Sulpiride reduced freezing expression in female rats. Moreover, females during the proestrus/estrus phases of the estrous cycle were more sensitive to the effects of sulpiride than females in metestrus/diestrus. Sulpiride did not cause motor impairments.Discussion: Although no sex or estrous cycle differences were observed in basal conditioned fear expression and extinction, the estrous cycle seems to influence the effects of D2-like antagonists on contextual fear conditioning.
The correlation between serum Cyclophilin A level and severity, prognosis of craniocerebral injury
Authors: Li Peng-Fei , Zhang Jing-Chen , He Xu-Jian , Niu Jian-Hua , Wu Wei-Fang , Li Tong 
Published: November 2022

BackgroundTo investigate the value of serum Cyclophilin A(Cyp A) in evaluating the prognosis of patients with different severity of craniocerebral injury.MethodsThe clinical data of patients with craniocerebral injury treated in the Department of Emergency from July 2014 to August 2017 were collected. The patients were divided into survival group and death group, good neurological function group and poor neurological function group with 28-day prognosis and were divided into mild (13–15) group, moderate (9–12) group, and severe (3–8) group with Glasgow Coma Scale (GCS) score. Clinical parameters such as Cyp A and mortality in groups and the relationship between Cyp A and GCS score were compared and its predictive value for prognosis was analyzed with Binary Logistics regression, Cox proportional hazards model and kaplan-meier survival curve.ResultsIn a single-center retrospective study, 503 patients were enrolled, including 365 males and 138 females; serum Cyp A in the survival group was significantly smaller than the death group [18.7 (10.1, 51.5) ng/mL vs. 149.8 (79.5, 194.4) ng/mL, P &lt; 0.005]. There were significant differences in mortality and Cyp A levels between patients with different severity of craniocerebral injury (P &lt; 0.001). Serum Cyp A levels were negatively correlated with GCS scores in all patients with craniocerebral injury, mild, moderate, or severe craniocerebral injury (r = −0.844, r = −0.256, r = −0.540, r = −0.531, P &lt; 0.001). Predictive value of Serum Cyp A level for all patients with craniocerebral injury, mild, moderate, and severe craniocerebral injury is 0.890, 0.789, 0.806, and 0.833, respectively. Logistics regression analysis showed that lactate (OR = 1.260, 95%CI: 1.023–1.551) and Cyp A (OR = 1.021, 95%CI: 1.011–1.031) were positively correlated with death (P &lt; 0.05), Lactic acid (HR 1.115; 95%CI:1.001–1.243; P = 0.048), GCS score (HR 0.888; 95% CI: 0.794–0.993; P = 0.038), Cyp A levels (HR 1.009; 95% CI: 1.004–1.013; P &lt; 0.001) had a significant effect on short-term mortality. Similar results were seen when neurologic function was used as the outcome. Kaplan-meier survival curve analysis found survival rate of patients with Cyp A level below the cut-off value was significantly higher.ConclusionSerum Cyp A has a certain predictive value for the prognosis of patients with different severity of craniocerebral injury. Among them, patients with severe craniocerebral injury have the highest predictive value and mild craniocerebral injury patients have the least.
Reliability of MUSE 2 and Tobii Pro Nano at capturing mobile application users' real-time cognitive workload changes
Authors: Zhang Limin , Cui Hong 
Published: November 2022

IntroductionDespite the importance of cognitive workload in examining the usability of smartphone applications and the popularity of smartphone usage globally, cognitive workload as one attribute of usability tends to be overlooked in Human-Computer Interaction (HCI) studies. Moreover, limited studies that have examined the cognitive workload aspect often measured some summative workloads using subjective measures (e.g., questionnaires). A significant limitation of subjective measures is that they can only assess the overall, subject-perceived cognitive workload after the procedures/tasks have been completed. Such measurements do not reflect the real-time workload fluctuation during the procedures. The reliability of some devices on a smartphone setting has not been thoroughly evaluated.MethodsThis study used mixed methods to empirically study the reliability of an eye-tracking device (i.e., Tobii Pro Nano) and a low-cost electroencephalogram (EEG) device (i.e., MUSE 2) for detecting real-time cognitive workload changes during N-back tasks.ResultsResults suggest that the EEG measurements collected by MUSE 2 are not very useful as indicators of cognitive workload changes in our setting, eye movement measurements collected by Tobii Pro Nano with mobile testing accessory are useful for monitoring cognitive workload fluctuations and tracking down interface design issues in a smartphone setting, and more specifically, the maximum pupil diameter is the preeminent indicator of cognitive workload surges.DiscussionIn conclusion, the pupil diameter measure combined with other subjective ratings would provide a comprehensive user experience assessment of mobile applications. They can also be used to verify the successfulness of a user interface design solution in improving user experience.
E-prop on SpiNNaker 2: Exploring online learning in spiking RNNs on neuromorphic hardware
Authors: Rostami Amirhossein , Vogginger Bernhard , Yan Yexin , Mayr Christian G. 
Published: November 2022

IntroductionIn recent years, the application of deep learning models at the edge has gained attention. Typically, artificial neural networks (ANNs) are trained on graphics processing units (GPUs) and optimized for efficient execution on edge devices. Training ANNs directly at the edge is the next step with many applications such as the adaptation of models to specific situations like changes in environmental settings or optimization for individuals, e.g., optimization for speakers for speech processing. Also, local training can preserve privacy. Over the last few years, many algorithms have been developed to reduce memory footprint and computation.MethodsA specific challenge to train recurrent neural networks (RNNs) for processing sequential data is the need for the Back Propagation Through Time (BPTT) algorithm to store the network state of all time steps. This limitation is resolved by the biologically-inspired E-prop approach for training Spiking Recurrent Neural Networks (SRNNs). We implement the E-prop algorithm on a prototype of the SpiNNaker 2 neuromorphic system. A parallelization strategy is developed to split and train networks on the ARM cores of SpiNNaker 2 to make efficient use of both memory and compute resources. We trained an SRNN from scratch on SpiNNaker 2 in real-time on the Google Speech Command dataset for keyword spotting.ResultWe achieved an accuracy of 91.12% while requiring only 680 KB of memory for training the network with 25 K weights. Compared to other spiking neural networks with equal or better accuracy, our work is significantly more memory-efficient.DiscussionIn addition, we performed a memory and time profiling of the E-prop algorithm. This is used on the one hand to discuss whether E-prop or BPTT is better suited for training a model at the edge and on the other hand to explore architecture modifications to SpiNNaker 2 to speed up online learning. Finally, energy estimations predict that the SRNN can be trained on SpiNNaker2 with 12 times less energy than using a NVIDIA V100 GPU.