Miracle-dz/UniFAR-FTUs huggingface dataset:
Fetal Congenital Heart Disease Caused by Compound Heterozygous Mutations in the DNAH9 Gene: A Case Report

Background: Fetal congenital heart disease (CHD) is the most common congenital defect, with an incidence of 0.6–0.8%, accounting for 30–50% of infant congenital disease deaths. The pathogenesis of CHD is still unclear, so an active and effective prenatal diagnosis is very important for the prevention and control of CHD. Herein, a Chinese CHD patient with rare compound heterozygous mutations in the DNAH9 gene was reported, and the 3D structure and functional changes of DNAH9 protein were predicted. Case presentation: A 23-year-old pregnant woman came to our hospital for prenatal diagnosis at 27 weeks of gestation. Both she and her partner were unaffected. Fetal CHD was detected by ultrasound screening. Copy number variation sequencing (CNV-seq) revealed an 81 kb deletion at chr17p12 (11,486,795–11,568,385), including exons 1–15 of DNAH9 gene, which plays a key role in cardiac development. Then, whole exome sequencing (WES) was used and identified a nonsense mutation (c.10975C>T) in DNAH9, which resulted in the mutation of amino acid 3,659 from glutamine to termination. The 3D mutant protein structures were predicted using SWISS-MODEL and showed structural changes from functional β-sheet and α-helix to termination, respectively. Conclusion: We describe a case of fetal CHD caused by DNAH9 mutations and provide an effective diagnostic technique for identifying intragenic deletions. This diagnostic process can be implicated in prenatal diagnosis of CHD.
Spreading to Localized Targets in Signed Social Networks

Inspired by lots of applications like viral marketing of products and transmitting information in a network, ranking the spreading ability of nodes in the network has been widely studied. At present, the above problem is mostly studied on unsigned networks which only contain positive relationships (e.g., friend or trust) between users. In real-world networks, there usually exist both positive relationships and negative relationships (e.g., foe or distrust) between users. Based on this, we aim to find the influential spreaders in a signed network which meet the requirement of real scene. Moreover, when the spreading only aims to affect a specific group of nodes instead of all nodes, such as promoting cigarette, a new problem called localized targets spreading problem was come up with. Localized targets spreading problem has been studied on unsigned networks, but it is still open for signed networks. Thus, in this paper, we propose a new method, called local influence matrix (LIM) method, which aims to find the seed nodes set with maximum positive influence on a specific group of targets but with minimum influence on the non-target nodes in signed social networks. Simulation results show that our method performs well on real networks.
Psychic Income Associated With Shanghai Tennis Masters and Residents’ Attitude

Using Shanghai Tennis Masters as an example, this study seeks to explore the psychic income associated with major sports events hosting and whether the psychic income would predict the attitudes of local residents toward events hosting. In addition, the moderating effect of sport involvement on the relationship between psychic income and attitude is also tested. In this study, a questionnaire survey is adopted. The structured questionnaire was developed based on 4 parts, including the demographics of the residents, involvement in the sport event, psychic income from the sport event, and their attitudes toward the sports event, there were 47 items in total. Data were collected from the local residents of Shanghai (including 16 districts or counties), as a result, 1,302 valid questionnaires were collected. A series of statistical analyses were conducted by using SPSS25.0 and AMOS 24.0 to examine the reliability and validity of the scales and to test the hypotheses. The results showed that the event has brought a significant level of psychic income to the local community, and the perceived psychic income would predict the attitudes of the residents toward the event hosting. The moderating effect of sports involvement on the relationship between psychic income and attitude is also confirmed.
Protein Phosphatase 2A Deficiency in Macrophages Increases Foam Cell Formation and Accelerates Atherosclerotic Lesion Development

Protein phosphatase 2A (PP2A), a crucial serine/threonine phosphatase, has recently been reported to play an important role in cardiovascular disease. Previous studies have hinted that PP2A is involved in atherosclerosis formation, but the associated mechanisms remain poorly understood. In this study, we investigate the role of PP2A in the pathogenesis of atherosclerosis. In human atherosclerotic coronary arteries, we found that the expression and activity of PP2A decreased significantly when compared to non-atherosclerotic arteries. Additional experiments demonstrated that pharmacological inhibition of PP2A aggravated atherosclerosis of ApoE−/− mice. Considering the central role of macrophages in atherosclerosis, mice with conditional knockout of the PP2A-Cα subunit in myeloid cells were produced to investigate the function of PP2A in macrophages. Results showed that PP2A deficiency in myeloid cells aggravated atherosclerotic lesions in mice. in vitro experiments indicated that PP2A-deficient macrophages had an enhanced ability of lipid uptake and foam cell formation. Mechanistically, the deficiency of the PP2A in macrophages led to an increase in the phosphorylation level of p38, which contributed to the elevated expression of scavenger receptor CD36, a key factor involved in lipoprotein uptake. Our data suggest that PP2A participates in the pathophysiological process of atherosclerosis. The decrease of PP2A expression and activity in macrophages is a crucial determinant for foam cell formation and the initiation of atherosclerosis. Our study may provide a potential novel approach for the treatment of atherosclerosis.
Traditional Chinese Medicine Targeting Heat Shock Proteins as Therapeutic Strategy for Heart Failure

Heart failure (HF) is the terminal stage of multifarious heart diseases and is responsible for high hospitalization rates and mortality. Pathophysiological mechanisms of HF include cardiac hypertrophy, remodeling and fibrosis resulting from cell death, inflammation and oxidative stress. Heat shock proteins (HSPs) can ameliorate folding of proteins, maintain protein structure and stability upon stress, protect the heart from cardiac dysfunction and ameliorate apoptosis. Traditional Chinese medicine (TCM) regulates expression of HSPs and has beneficial therapeutic effect in HF. In this review, we summarized the function of HSPs in HF and the role of TCM in regulating expression of HSPs. Studying the regulation of HSPs by TCM will provide novel ideas for the study of the mechanism and treatment of HF.
Kinin B1 Receptor Mediates Renal Injury and Remodeling in Hypertension

Despite many readily available therapies, hypertensive kidney disease remains the second most prevalent cause of end-stage renal disease after diabetes, and continues to burden patient populations and escalate morbidity and mortality rates. Kinin B1 receptor (B1R) activation has been shown to have a role in the development of hypertension, one of the major etiologies for chronic kidney disease. However, the role of B1R in hypertension induced renal injury and remodeling remains unexplored. Using a DOCA-salt-induced hypertensive mouse model, we investigated whether B1R deficiency reduces hypertensive renal injury and fibrosis. To further recognize the translational role of B1R, we examined the expression of B1R and its correlation with collagen deposition in renal biopsies from control and hypertensive kidney disease patients. Our data indicates that renal B1R expression was upregulated in the kidneys of DOCA-salt hypertensive mice. Genetic ablation of B1R protected the mice from DOCA-salt-induced renal injury and fibrosis by preventing inflammation and oxidative stress in the kidney. Cultured human proximal tubular epithelial cells expressed B1R and stimulation of B1R with an agonist resulted in increased oxidative stress. In human kidney biopsy samples, we found that the B1R immunoreactivity was not only significantly increased in hypertensive patients compared to normotensive patients, but also there is a positive correlation between B1R expression and renal fibrosis levels. Taken together, our results identify a critical role of B1R in the development of inflammation and fibrosis of the kidney in hypertension.
Prevalence and Developmental Profiles of Autism Spectrum Disorders in Children With Global Developmental Delay

Background Previous studies have mostly explored the comorbidities of Global developmental delay (GDD) in children with Autism Spectrum Disorders (ASD) from the perspective of ASD. The study focus on the perspective of GDD to investigate the prevalence and developmental profiles of ASD in GDD and to explore the correlation between the developmental level and symptoms of autism. Methods Clinical data of 521 children with GDD aged from 24 to 60 months were retrospectively analyzed. Analyses were performed first for the whole sample and then subdivided into two subgroups (GDD+ASD−, GDD+ASD+) according to whether had ASD. Symptoms of autism were evaluated by the Autism Behavior Checklist and the Childhood Autism Rating Scale. The Chinese version of the Gesell Developmental Schedules was used to evaluate the level of children's mental development. Result The prevalence of ASD in children with GDD was 62.3%. The total average developmental quotient (DQ) of GDD was mildly deficient and was negatively correlated with symptoms of autism (p < 0.05); language ability was severe and extremely severe deficient (P < 0.05). GDD+ASD− group and GDD+ASD+ group have some common points as well as differences in the developmental features. The language delay of children in both subgroups was the most obviously defected, thereafter followed by the item of personal social activity. In the GDD+ASD+ group, the DQ of gross motor skills>fine motor skills>adaptability (p < 0.05). There were no significant differences among the DQ of gross motor skills, fine motor skills and adaptability in GDD+ASD− group (p > 0.05). The GDD+ASD−group had better adaptability, fine motor skills, language ability, personal social activity than that of the GDD+ASD+ group, but the gross motor skills in GDD+ASD− group were worse (p < 0.05). Conclusion GDD children have a high proportion of comorbid ASD, and GDD children with poorer developmental levels are more likely to have ASD symptoms. Development profiles in both GDD+ASD− children and GDD+ASD+ children have common features but there are also differences. GDD+ASD+ group is worse than GDD+ASD− group in terms of the overall development level.
Sensorimotor Underpinnings of Mathematical Imagination: Qualitative Analysis

Many mathematicians have a rich internal world of mental imagery. Using elementary mathematical skills, this study probes the mathematical imagination's sensorimotor foundations. Mental imagery is perturbed using body position: having the head and vestibular system in different positions with respect to gravity. No two mathematicians described the same imagery. Eight out of 11 habitually visualize, one uses sensorimotor imagery, and two do not habitually used mental imagery. Imagery was both intentional and partly autonomous. For example, coordinate planes rotated, drifted, wobbled, or slid down from vertical to horizontal. Parabolae slid into place or, on one side, a parabola arm reached upward in gravity. The sensorimotor foundation of imagery was evidenced in several ways. The imagery was placed with respect to the body. Further, the imagery had a variety of relationships to the body, such as the body being the coordinate system or the coordinate system being placed in front of the eyes for easy viewing by the mind's eye. The mind's eye, mind's arm, and awareness almost always obeyed the geometry of the real eye and arm. The imagery and body behaved as a dyad, so that the imagery moved or placed itself for the convenience of the mind's eye or arm, which in turn moved to follow the imagery. With eyes closed, participants created a peripersonal imagery space, along with the peripersonal space of the unseen environment. Although mathematics is fundamentally abstract, imagery was sometimes concrete or used a concrete substrate or was placed to avoid being inside concrete objects, such as furniture. Mathematicians varied in the numbers of components of mental imagery and the ways they interacted. The autonomy of the imagery was sometimes of mathematical interest, suggesting that the interaction of imagery habits and autonomy can be a source of mathematical creativity.
Generic change detection (almost entirely) in the dataplane

Identifying traffic changes accurately sits at the core of many network tasks, from congestion analysis to intrusion detection. Modern systems leverage sketch-based structures that achieve favourable memory-accuracy tradeoffs by maintaining compact summaries of traffic data. Mainly used to detect heavy-hitters (usually the major source of network congestion), some can be adapted to detect traffic changes, but they fail on generality. As their core data structures track elephant flows, they miss to identify mice traffic that may be the main cause of change (e.g., microbursts or low-volume attacks). We present k-meleon, an in-network online change detection system that identifies heavy-changes - instead of changes amongst heavy-hitters only, a subtle but crucial difference. Our main contribution is a variant of the k-ary sketch (a well-known heavy-change detector) that runs on the data plane of a switch. The challenge was the batch-based design of the original. To address it, k-meleon features a new stream-based design that matches the pipeline computation model and fits its tough constraints. A preliminary evaluation shows that k-meleon achieves the same level of accuracy for online detection as the offline k-ary, detecting changes for any type of flow: be it an elephant, or a mouse.
The Cost of Stateless Network Functions in 5G

The adoption of a cloud-native architecture in 5G networks has facilitated rapid deployment and update of cellular services. An important part of this architecture is the implementation of 5G network functions statelessly. However, statelessness and its associated serialization and de-serialization of data and database interaction significantly increase latency. In this work, we take the first steps towards quantifying the cost of statelessness in a cloud-native 5G system. We compare the cost of different state management paradigms, and propose a number of optimizations to reduce this cost. Our preliminary results indicate that sharing user state among 5G functions reduces the overall cost by on an average of 10% in experiments with 100 to 1000 simultaneous requests. Optimizations such as non-blocking calls and custom database APIs also reduce cost, albeit to a lower extent. We believe that the paradigms proposed in this paper can aid operators and software vendors as they design cloud-native 5G networks.
DESIGNE OF ALU USING REVERSIBLE LOGIC GATES

: Reversible logic is one of the most vital issue at present time and it has different areas for its application, those are low power CMOS, quantum computing, nanotechnology, cryptography, optical computing, DNA computing, digital signal processing (DSP), quantum dot cellular automata, communication, computer graphics. It is not possible to realize quantum computing without implementation of reversible logic. The main purposes of designing reversible logic are to decrease quantum cost, depth of the circuits and the number of garbage outputs. This paper provides the basic reversible logic gates, which in designing of more complex system having reversible circuits as a primitive component and which can execute more complicated operations using quantum computers. The reversible circuits form the basic building block of quantum computers as all quantum operations are reversible. This paper presents the data relating to the primitive reversible gates which are available in literature and helps researches in designing higher complex computing circuits using reversible gates.
JISEA Research Highlight: Integrated Model of Natural Gas Pipelines and the Electricity Grid

This study developed a market-based coordination framework that allows for exchanging information on gas offtakes as well as constraints between gas network and power sector models. The framework—which includes unit commitment and economic dispatch for power plants as well as a dynamic gas network simulation model—was then tested using real powerand gas-system data from Colorado. This study was sponsored by a consortium including Kinder Morgan, Midcontinent Independent System Operator, Hewlett Foundation, Environmental Defense Fund, American Gas Association, and American Electric Power.
Occupancy Detection Chair Sensor: An Energy Conservation Tool

Occupants’ behavior inside buildings is a vital parameter in determining the building energy consumption. Occupancy density distribution is a wide uncertain parameter due to the difficulty in predicting the attendants’ behavior. Currently, occupancy detection tools and technologies have been insufficient of determining the exact number of occupants and, thus, the space ventilation requirements are not set at its optimized values. This capstone project was part of a bigger project conducted at Purdue Polytechnic Kokomo to better improve the energy consumption used for ventilation and AC in buildings. The objective of this capstone project was testing potential energy savings in an office space by using an occupancy seat sensor. An experimental and parametric approach were followed. The project was led by one MET student (Mechanical Engineering Technology). The project built and tested a seat occupancy chair sensor that detects a seated occupant of 40 lbf and above. The chair was tested inside a controlled office room. The transmitter of the sensor was connected to a programmable logic controller (PLC) unit that detected and recorded the chair status along with changes in temperature. To investigate potential savings due to the usage of occupancy detection sensors in an office, a parametric case study was conducted. The study compared the cooling load required based on actual number of occupants present versus the peak load when no chair sensors were used. It was found that the case with chair sensors that detects the variable occupancy level can save 15% every month (May through September) of the required cooling load and of the power consumed. This figure can significantly double to higher values when considering higher occupancy density spaces such as theaters, class rooms, and large meeting rooms. The project revealed high impact on the level of understanding for students. Students performance and project outcomes were assessed against ABET learning outcomes: (a) apply knowledge, techniques and skills to engineering technology activities, (b) apply knowledge of mathematics, science, and engineering to engineering technology programs, (c) Conduct tests, measurements, calibration and improve processes, (e) Problem Solving: ability to identify, formulate, and solve engineering problems, and (f) Effective Communication: ability to communicate effectively.
The leaf-spring seismometer: Design and performance

abstract A small vertical seismometer whose inertial mass is supported by a leaf spring has been developed as a replacement for conventional long-period (LP) seismometers. The mechanical sensor has a virtually infinite natural period and is operated in a force-balance feedback configuration with an overall response identical to that of a 20-sec LP seismometer. Main considerations in the design were economic production and efficient shielding against environmental disturbances. The sensor is thermally coupled to the ground and protected from atmospheric pressure variations by a vacuum bell. This allows increasing the useful gain at very long periods by two orders of magnitude compared to a standard LP seismograph. The instruments resolve ground noise at least from a 0.3- to 300-sec period (typically, from about 0.1 to 3000 sec) and have a dynamic range of 140 dB. Leaf-spring seismometers have been tested since 1976 as part of wideband, LP, and very LP seismographs. Matching horizontal sensors are also available. This paper discusses the design principles and the initial calibration, and presents test results and typical seismograms.
Fault Direction Estimation for DFIG Integrated Distribution System

In Recent years, Distributed energy sources such as wind generators, PV generators, fuel cells have become more attractive to integrate in power system at distribution level because of environmental issues and to replace the fossil fuels which are decreasing day by day. The distributed generation is expected to play a major role in future power systems. The solar and wind energy forms are the two main formsof the renewable energy resources. But, the presence of renewable energy resources will change the traditional distribution system in terms of short circuit power, fault current level and the characteristics of fault currents. These will disturb already existing protection system and cause the entire system to become active. The impact will be majorly on short circuit currents, protection and control.
On the Formation of Dynamic Key Power of High-tech Enterprises and Its Updating Mechanism

In the model of formation of high-tech enterprises' dynamic key power,learning,soft resources,innovation and management have different workingmechanisms.From the dynamic management and power dynamic transformation,this paper discusses the updating mechanism of high-tech enterprises' dynamic key power in order to set up the working platform of sustained development in dynamic and indeterminate circumstances.
Analysis of the Hidden Troubles of Piercing Clips in the Application of Distribution System

The development history,service conditions,construction and advantages /disadvantaes of piercing clips are presented.The hidden troubles of piercing clips in the application of distribution system were analyzed.A com-parison was made between the prefab branched cables and traditional distribution cables in terms of merits /defects.The merits /defects of prefab branched cables and piercing clips were discussed.The object is to make the designers and end-users well informed about the actual application and hidden troubles of piercing clips in the application of distribution system.
System to test sensitivity to head tracking error in virtual environments

The design and implementation of a system to test human sensitivity to head tracking error in virtual environments is discussed. Head tracking error corresponds to inaccuracies in the head tracking methods used. A superior head tracking device with minimal intrinsic error is used as the control for these experiments. Error is then induced in software to simulate common types of head tracking error. A psychophysics model is used to create tests to determine the threshold point of human sensitivity to each type of error. As part of this model an adaptive testing method is used in conjunction with a two-alternative forced-choice test. Experiments are also conducted in situations both with and without cognitive loading. A graphical user interface (GUI) has been created to handle all interaction during the threshold experiments. Thesis Supervisor: Nathaniel Durlach Title: Senior Research Scientist, Research Laboratory of Electronics