Miracle-dz/UniFAR-FTUs huggingface dataset:
Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis

ABSTRACT Background Next-generation sequencing has been proven to be a reliable method for the detection of genetic causes in heterogeneous ocular disorders. In this report an NGS-based diagnostic approach was taken to uncover the genetic etiology in a patient with coloboma and microphthalmia, a highly heterogeneous disease with intrafamilial phenotypic variability. Materials and methods Next generation sequencing using a targeted panel of 316 genes, was carried out in the proband. Prioritized variants were then identified and confirmed using Sanger sequencing. Prenatal diagnosis of the detected variant was then performed in the family. Results A novel de novo frameshift variant c. 157_164delTTCACTCG (p.Phe53fs) in OTX2, leading to a truncated protein, was identified. Prenatal diagnosis identified the same variant in the fetus. Conclusions This report demonstrates the importance of genetic counseling and underscores the efficiency and effectiveness of targeted NGS as a means of detecting variants in inherited eye disorders.
Effects and Compensation of Magnetic Saturation in Flux-Weakening Controlled Permanent Magnet Synchronous Motor Drives

Permanent magnet synchronous (PM) motors can be applied to applications requiring constant power operation, such as traction and spindle drives by means of flux-weakening control. In a PM motor drive system with flux-weakening control, the motor parameters are used to produce the current vector command. The motor parameters vary because of magnetic saturation and as a result, the control performances are affected by the magnetic saturation. In this paper, the effects of magnetic saturation are examined and the control system considering the magnetic saturation is proposed. The performances of the proposed control system are examined by simulations and the experimental results with respect to the prototype interior permanent magnet synchronous motor
High Speed Reconfigurable FIR Filter using Russian Peasant Multiplier with Sklansky Adder

The Reconfigurable FIR filters are commonly used digital filters which find its major applications in digital signal processing and multi-standard wireless communica tions. The Direct form of FIR filter used in DSP application which consumes more area and power. To overcome this problem Multiplier Control Signal Decision (MCSD) window schemes is incorporated into direct form FIR filter in order to dynamically change the filter order. Conventional reconfigurable FIR filter is designed using Russian Peasant Multiplier which consumes more area and delay due to poor performance of adder used in multiplication unit. In this study, modified reconfigurable FIR filter is designed to further reduce the area, power and time. In proposed Reconfigurable FIR filter, a Wallace adder is replaced by carry select adder with sklansky adder in Russian Peasant Multiplication technique. Hence, modified Reconfigurable FIR filter with carry select adder with sklansky adder consumes less area, delay and power than the conventional Reconfigurable FIR architecture with Russian Peasant Multiplication technique.
Architects and contractors: a comparative study of organizational cultures

Conflicts between project participants have been identified in various construction industry reports as being one of the principal causes of poor performance on construction projects. These conflicts occur at the interface level in one respect because participants have different objectives and different organizational cultures which define their approach to work and relationship with the other project participants. This research was therefore undertaken to investigate and identify the organizational cultures of two significant players in the project coalition – architects and contractors – on the premise that by revealing specific cultural characteristics and orientations, establishing significant areas of difference and initiating discussion on some of the implications for conflicts and project performance, the context would have been set for assessing and understanding the behaviour of these project participants. A questionnaire survey based on some specific indices of organizational culture conducted on these two groups of participants revealed that in terms of specific traits, significant differences exist in task organization, sources of power and influence, control and coordination, formality, people issues and nature of tasks. The implications are that conflicts are likely to occur within the project coalition at the interface level where human interaction elements occur and this could detract from achieving project objectives. Awareness of these differences, however, improves the chances of achieving the right balance when constructing the team and this could lead to the development of synergy and good ‘project chemistry’ with positive consequences for overall project performance.
Showing Legitimacy: The Strategic Employment of Visuals in the Legitimation of New Organizations

Entrepreneurs commonly engage in discursive activities to pursue the legitimacy of their new organizations. Previous studies on this pursuit have essentially been focused on verbal language and there is limited understanding of how other communication modes, such as the visual, offer specific potentials for influencing legitimation audiences. With the contemporary pervasiveness of digital documents and online environments that often employ the visual mode, this gap has become more relevant. To address it, this study is guided by the following research question: how do entrepreneurs use the visual mode of communication to legitimize their new ventures? Building on the case of a new organization, this study shows that specific features of the visual mode of communication are especially well suited to sustaining legitimation in particular ways. While previous research has mostly remained on a conceptual level, this study empirically advances the understanding of visual discursive legitimation.
Power-frequency control for VSC-HVDC during island operation

This paper presents a control system for the VSC-HVDC during island operation. Three-phase balanced faults are applied to investigate the dynamic performance of the system. Simulation results obtained by using PSCAD/EMTDC illustrate that the proposed control strategy can significantly improve the power quality of the system during faults. The current limit of the converters of the VSC-HVDC has a significant influence on the dynamic response of the system.
The Influence of Microplastics from Ground Tyres on the Acute, Subchronical Toxicity and Microbial Respiration of Soil

As a rubber annular coat of rim wheels, tyres are inevitable parts of all vehicles in modern times. As to their composition, however, they represent a risk for the environment. During the use of tyres, tyre tread patterns become abraded, which results in its gradual wear and necessary re- placement. These micro and nano particles are then gradually extracted into the environment, namely soils and waters. Our research study was focused on the assessment of subchronical phytotoxicity (pot trial with a mixture of substrate and predetermined ratio of abrasion products lasting 28 days) and biological tests (testing phytotoxicity of leaches with predetermined ratio of abrasion products on Petri dishes). The biological tests were comprised two plant species—seeds of white mustard (Sinapis alba L.) and garden cress (Lepidium sativum L.). In the mixtures of substrate with determined shares of abrasion products (5%, 25%, 50% and 75%), respiration of CO2 was also established by means of soil microbial respiration (Solvita CO2-Burst). Substrates with 5% and 25% abrasion proportions showed increased biological activity as well as increased CO2-C emissions. The increasing share of abrasion products resulted in decreasing biological activity and decreasing CO2-C emissions. The results of subchronical phytotoxicity ranged from 62% to 94% with values below 90% indicating substrate phytotoxicity. The results of biological tests focused on the phytotoxicity of tested samples exhibiting values from 35% to 70% with respect to the germination index with values below 66% indicating the phytotoxicity of tyre abrasion products.
Physical activity participation among older adults with diabetes: Applying the World Health Organization’s International Classification of Functioning, Disability and Health (ICF) Guidelines

Physical activity (PA) is a known benefit to older adults with diabetes; however, the determinants of PA are less well studied in this population. Applying the World Health Organization’s International Classification of Functioning, Disability and Health (ICF), a well-established biopsychosocial framework, we explored PA participation among older adult with type 2 diabetes. Using data from the Health and Retirement Study and the RAND Center for the Study of Aging (N = 2,016; mean age = 73.19; SD = 6.16), we conducted hierarchical stepwise regression analysis to evaluate the relative contribution of different biopsychosocial predictors to PA – namely, body functions and structure, activity and participation, personal, and environmental factors. Altogether, biopsychosocial factors accounted for 20% of the variance in PA participation. Of the personal factors, high extraversion and low neuroticism explained approximately 54% of the variance in PA among the older adults – beyond sociodemographics. Low body mass index, reduced pain, reduced depression, and higher cognitive functioning also had good explanatory power (25% of explained variance), whereas activity participation and environment did not (10% each). Aligning care with components of the ICF will help to ensure a focus on person-centric practices and, in turn, optimize participation outcomes such as PA.
Valoración holística de la sostenibilidad en los sistemas lecheros de la España húmeda

The aim of this work was to develop a holistic scoring system that would assess aspects related to product quality (ICPs) and the process (ICPr) in the milk production from dairy farms on the Cantabrian coast, using the simulation model DairyCant. The scoring system is made up of 66 variables grouped into the indicators: environment (19), soil (9), slurry (11), feed (14) for the ICPs; nutritional (5) and nutraceutical (8) for the ICPr. Each variable within its indicator was scored from 1 to 4 according to its interquartile Salcedo y Salcedo-Rodríguez ITEA-Inf. Tec. Econ. Agrar. (en prensa), Vol. xx: 1-31 1 * Autor para correspondencia: gregoriosal57@gmail.com Cita del artículo: Salcedo G, Salcedo-Rodríguez D (en prensa). Valoración holística de la sostenibilidad en los sistemas lecheros de la España húmeda. ITEA-Información Técnica Económica Agraria. Vol. xx: 1-31. https://doi.org/10.12706/itea.2021. 032
Development of a Machine Learning Model for the Prediction of the Real Time Mortality in Patients in the Intensive Care Unit

BackgroundPrediction of mortality in intensive care units is very important. Thus, various mortality prediction models have been developed for this purpose. However, they do not accurately reflect the changing condition of the patient in real time. The aim of this study was to develop and evaluate a machine learning model that predicts short-term mortality in the intensive care unit using four easy-to-collect vital signs.MethodsTwo independent retrospective observational cohorts were included in this study. The primary training cohort included the data of 1968 patients admitted to the intensive care unit at the Veterans Health Service Medical Center, Seoul, South Korea, from January 2018 to March 2019. The external validation cohort comprised the records of 409 patients admitted to the medical intensive care unit at Seoul National University Hospital, Seoul, South Korea, from January 2019 to December 2019. Datasets of four vital signs (heart rate, systolic blood pressure, diastolic blood pressure, and peripheral capillary oxygen saturation [SpO2]) measured every hour for 10 h were used for the development of the machine learning model. The performances of mortality prediction models generated using five machine learning algorithms, Random Forest (RF), XGboost, perceptron, convolutional neural network, and Long Short-Term Memory, were calculated and compared using area under the receiver operating characteristic curve (AUROC) values and an external validation dataset.ResultsThe machine learning model generated using the RF algorithm showed the best performance. Its AUROC was 0.922, which is much better than the 0.8408 of the Acute Physiology and Chronic Health Evaluation II. Thus, to investigate the importance of variables that influence the performance of the machine learning model, machine learning models were generated for each observation time or vital sign using the RF algorithm. The machine learning model developed using SpO2 showed the best performance (AUROC, 0.89). ConclusionsThe mortality prediction model developed in this study using data from only four types of commonly recorded vital signs is simpler than any existing mortality prediction model. This simple yet powerful new mortality prediction model could be useful for early detection of probable mortality and appropriate medical intervention, especially in rapidly deteriorating patients.
Implementation of an Integrated Controller for a Robot Hand Base on a Vehicle Communication System

Intelligent robots commonly adopt Network-Based Control Systems (NBCS). For control of a robot hand or a robot head, many sensor data and control commands need to be transmitted in real time, so they have necessitated communication systems with high transmission capability. Traditionally, CAN is widely used for intelligent robots, but it presents bandwidths that are too low for the control of a high performance system. In this paper, the relation between the transmission period and the performance of a multi-motor control system is analyzed, and a multi-motor control system for a human robot hand is implemented based on the FlexRay communication system, which is an emerging in-vehicle communication network system. FlexRay parameter optimization for a robot system is studied, and a real position control test is conducted, to validate the implemented system.
Complex Regional Pain Syndrome in Athletes: Scoping Review

Background and Objectives: Complex regional pain syndrome (CRPS) is a chronic condition characterized by disproportionate regional pain, usually affecting distal limbs, that follows trauma or surgery. Athletes may develop CRPS because of exposure to traumatic or overuse injuries. The aim of the present study is to review the available literature about CRPS type 1 in athletes. Materials and Methods: We searched two online databases (PubMed and Web of Science), selecting papers aiming at investigating CRPS type 1 (algodystrophy) in athletes. The analysis of databases was made considering original articles published until 30 June 2021, written in English. Results: Fifteen papers (12 case reports, 3 case series) were selected for a total of 20 clinical cases (15 females, 5 males), aged between 10 and 46 years (mean age 18.4 ± 9.8 standard deviation years). Patients included practiced different types of sport (soccer, athletics, gymnastics, basketball). The most involved anatomical sites were lower limbs, and time to diagnosis ranged from 2 days to 4 years. The most used treatments were pharmacological and physical therapies, but sometimes invasive approaches, as regional nerve, or lumbar sympathetic blocks, were provided. The main assessed outcomes were return to activity and pain. Conclusions: Our review suggests a higher prevalence of CRPS type 1 in younger people and in lower limbs than in general population but confirms the higher prevalence in females. However, the number of studies addressing CRPS in athletes is limited, as well as the number of involved patients, considering that only few and heterogeneous case reports were published about this topic. Moreover, the high prevalence of old studies (only 5 available studies in the last 10 years) might have influenced the choice of both assessment tools and management strategies. Despite these limitations, athletes showing disproportionate pain after sport-related injury should be promptly evaluated and treated through a multidimensional approach to avoid long-term consequences of algodystrophy.
Elevational Patterns of Blowfly Parasitism in Two Hole Nesting Avian Species

Climate change is predicted to cause shifts in parasite distributions, leading to encounters with new hosts. Mountains offer a natural experimental background to study how parasite distributions vary across climatic gradients. Parasite abundance is generally assumed to decrease with ascending elevation, as colder climates may preclude several parasites to complete their life cycles. The present study analyses the elevational variation in the prevalence and intensity of the blowfly Protocalliphora azurea found in the nests of two hosts—the coal tit (Periparus ater) and great tit (Parus major)—in Sierra Nevada (SE Spain). Protocalliphora azurea adults are free-living flies, while their larvae are nest-dwelling parasites that feed on nestling blood. In contrast to initial predictions, P. azurea larvae were less prevalent at lower elevations. In Mediterranean environments, the colder and damper climate of medium and high elevations might favour this parasite. Alternatively, greater anthropogenic perturbation in lowland environments may have a negative impact on the parasite. The findings also show that the two host species had similar parasite loads. As coal tits are half the size of great tits, this suggests that the coal tits were more severely parasitised. In conclusion, the generalised assumption that parasite abundance decreases with elevation does not hold true for the present case and elevational parasite patterns probably depend on specific host–parasite systems and climatic conditions in the mountains.
Seasonal Vegetation Response to Climate Variability on Land use Land Cover Changes using In-Situ and Satellite Imagery Observation Data for Semi-Arid Maasai Mara National Reserve Rangeland Ecosystem, Kenya

Monitoring vegetation response through enhanced change detection by remote sensing and geographical information systems has tremendously improved real time information on surface features. Over the last few decades biomass monitoring at large scale has been made possible from information and metrics derived from satellite sensors. Maasai Mara National Reserve has been utilized in many decades as Kenyan natural grassland for wildlife grazing without periodic assessment of biomass production as affected by impact of climate variability yet it’s a tourism hub and one Kenyan economic contributor. This research evaluates the use of high spatial resolution satellite imagery such as the Moderate Resolution Imaging Spectro-radiometer or the Project for On-Board Autonomy–Vegetation and latest SENTINEL-2 for deriving the Normalized Difference Vegetation Index values in relations to in-situ measurements of biomass production between 2009 and 2019 in Mara, Kenya. Area frame sampling of biomass per unit area in Kgha-1clipped from 50cm by 50cm quadrats were used in destructive sampling. The reserve grassland area coverage was estimated to be 717.203km2 (46.75%) where the in-situ total above ground grass biomass projected in dry season was 35.094 tonha-1. This was approximated as 2,516,952.208 tonnes per the season reserve cover while in wet season, 42.123 tonha-1 was approximated as 3,021,074.197 tonnes. The error matrices developed to assess the accuracies of the ecosystem classification indicated values that ranged between 80-100% and 87.5-100% for producer’s and user’s accuracy respectively. 3 out of 7 satellite imagery maps (2017, 2018, and 2019) were assessed for accuracy using reference data collected during fieldwork in 2018 and 2019 in ecosystem. The overall accuracy was 95.22% with Kappa index of 0.94 for 14 land cover classes shown in table 7. From the findings, potential factors influencing vegetation growth in different climatic regions are varied and complex. It can be noted that climate variability influence vegetation response in spatial scale to supply sustainable quality vegetation/pasture for wildlife feeds and ecosystem development. Vegetation mapping and monitoring of ecosystem behavior help stakeholders with information of vegetation characteristics Decision policy formulation and wildlife planning.
A 2-DIMENSIONAL VIDEO BASED MODEL FOR USE IN ERGOMETER ROWING KINEMATICS

Motion capture of the rowing stroke using accurate 3D opto-reflective systems has been limited by the constraints of the surrounding hydrodynamic environment. As a consequence 2D lower-extremity kinematic models have been used in an attempt to counter these logistical issues (Lamb, 1989). Despite this, there is limited research supporting the accuracy of a 2D video based model (2DVBM) for motion capture of the rowing stroke. The purpose of this study was to assess the accuracy of a 2DVBM against the conventional gait model using a 3D opto-reflective system.
DATA GOVERNANCE MECHANISMS IN INDONESIA’S COVID-19 DATA INTEGRATION SYSTEM

During a pandemic, policy decisions are made quickly and correctly. The need for COVID-19 data becomes an absolute basis for policymaking. This paper focuses on the mechanism of COVID-19 data management in the national COVID-19 task forces to be able to provide valid and realtime data. Researchers used qualitative analysis, with primary and secondary data collection. Researchers interview 3 information from the ministry of communication and informatics as a public communication team in the task force to accelerate the handling of COVID-19. The results showed that even data management was based on structural, procedural, and relational mechanisms. Structure mechanism has been formed strongly through the task force team from the national to the regions. Procedural data mechanisms, although changing procedures are now at the point of data integration. The relation mechanism shows that the coordination and communication relationship between member task forces has been done quite well where coordination is always done quickly.
Combining EEG and eye tracking: Identification, characterization and correction of eye movement artifacts in electroencephalographic data

Sensory processing under natural conditions has recently moved into the focus of neuroscience studies. This step necessitates solving a set of complex problems before the approach can be used to its full potential. One important aspect is the development of mobile recording techniques and their combination. On one hand is EEG a prime candidate for mobile physiological recordings while behavioural measurements include tracking of eye movements. These, however, introduce large artifacts to EEG recordings and thus render data analysis difficult or even impossible. To overcome this restriction, several correction methods including regression and blind source separation have been proposed. Yet, there is no automated standard procedure established, usable for evoked as well as induced activity in all frequency bands. Here we present a procedure based on Independent Component Analysis (ICA) in combination with high temporal resolution eye tracking. This procedure uses eye tracker information to reliably and objectively identify eye-artifact related ICA-components in an automated manner. We demonstrate that this approach allows removing or substantially reducing ocular artifacts including microsaccades without affecting the signal originating from brain sources. In conclusion the proposed method does not only provide a tool for detecting and correcting eye artifacts in standard EEG-paradigms but it also permits to study EEG-activity during eye tracking experiments and thus to investigate neural mechanisms of eye movement control and visual attention under natural conditions. Biomed Tech 2012; 57 (Suppl. 1) © 2012 by Walter de Gruyter · Berlin · Boston. DOI 10.1515/bmt-2012-4542