Miracle-dz/UniFAR-FTUs huggingface dataset:
15q13.3 microdeletion identified by High-density array in a Turner syndrome female with intellectual disability, significant language delay and autism

Absence of the second X chromosome in Turner syndrome is generally well tolerated, but in cases of small fragments or rings derived from the X chromosome, the incidence of mental retardation and other unusual congenital abnormalities can be significantly higher. This investigation focuses on a 9-year-old female who was referred for molecular analysis of the karyotype because of dysmorphic features uncharacteristic of Turner’s syndrome such as moderate psychomotor retardation, significant language delay and autism. Karyotype analysis by Affymetrix CytoScanTM high-density (HD) array allowed to identify a small fragment derived from the X chromosome which was detected in 70% of cells. The fragment appeared to be made mainly of alphoid sequences with breakpoints in the juxtacentromeric region Xp11.1 and Xq13.2. The fragment did not include the XIST locus and might not, therefore, be subject to X-inactivation. Interestingly we also detected a 15q13.3 microdeletion of 1.84 Mb, including the genes: FAN1, TRPM1, MIR211, KLF13, OTUD7A, CHRNA7 and ARHGAP11A. The 15q13.3 microdeletion syndrome (OMIM#612001) is characterized by a wide range of phenotypic features, including intellectual disability, autism and psychiatric conditions. Correspondence to: Rosa M Fernández, Department of Psychology, Facultad Ciencias de la Educación, Universidade da Coruña. 15071 A Coruña, Spain, Tel: 981167000; E-mail: rosa.fernandez@udc.es
Differences in Reaction to Immediate Feedback and Opportunity to Revise Answers for Multiple-Choice and Open-Ended Questions

There are many reasons to believe that open-ended (OE) and multiple-choice (MC) items elicit different cognitive demands of students. However, empirical evidence that supports this view is lacking. In this study, we investigated the reactions of test takers to an interactive assessment with immediate feedback and answer-revision opportunities for the two types of items. Eighth-grade students solved mathematics problems, both MC and OE, with standard instructions and feedback-and-revision opportunities. An analysis of scores based on revised answers in feedback mode revealed gains in measurement precision for OE items but not for MC items. These results are explained through the concept of effortful engagement—the OE format encourages more mindful engagement with the items in interactive mode. This interpretation is supported by analyses of response times and test takers’ reports.
Relevance of the Mathematics Education Programmes of the Nigerian Colleges of Education to the Teaching of Junior Secondary Mathematics

The education system in Nigeria is faced with a mirage of defects which hinged on man power used in carrying out the teaching and learning process. This study considers the relevance of the mathematics education programmes of the Nigerian Colleges of Education (NCE) to the teaching of junior secondary mathematics. This was with a view to providing necessary information for later mathematics education curriculum revision in NCE. The subjects of the study included Heads of departments of mathematics in five Colleges of Education in Southwestern Nigeria as well as 179 teachers of 49 secondary schools with the region. The employed a survey design with two instruments namely: Content Analysis Discrepancy Model (CADM) and Mathematics Teachers’ Questionnaire (MTQ) used to obtain the closeness of Colleges of Education mathematics curriculum with that of NCE and used to enquire which of the mathematics contents in JSS the teachers were equipped to teach, respectively. Findings from the descriptive analysis of data revealed that mathematics education programme run by the Colleges of Education was 96.36% relevant to the junior secondary mathematics curriculum. It is also revealed that all the NCE teachers can teach up to 70% of the JSS mathematics topics. The findings bring into focus the need that 82% of the experienced NCE and 18% less experienced NCE teachers wanted a review of the mathematics education programme of the Nigerian Colleges of Education. Key Words: Students’ Achievement, Mathematics Education Programme, Junior Secondary School
Mitochondrial membrane potential and reactive oxygen species in liquid stored and cryopreserved turkey (Meleagris gallopavo) spermatozoa1

The extensive use of artificial insemination in turkeys has led to the development of in vitro semen storage. However, fertility rates from liquid stored and frozen/thawed turkey semen are still unsatisfactory. The aim of the study was to assess spermatozoa viability, mitochondrial membrane potential (MMP), and reactive oxygen species production (ROS) in liquid stored and cryopreserved turkey semen with the use of flow cytometry. Moreover, motility and adenosine triphosphate (ATP) content in sperm were monitored at the same time to link flow cytometry data with sperm movement and energetics. Liquid storage led to a decrease in sperm motility (80.6 vs. 55.6%, for fresh and stored for 48 h), live sperm with an intact MMP (59.9 vs. 30.5% for fresh and stored for 48 h), and a 20-fold decrease in ATP content after 24 h of storage. A 3-fold increase in ROS+ sperm was observed after 48 h of storage (9.3 vs. 26.8% for fresh and stored for 48 h). Semen equilibration before cryopreservation affected only ATP content. However, freezing/thawing led to a dramatic decrease in all of the studied semen quality parameters. A 5-fold decrease in live sperm with intact MMP (59.8 vs. 11.9%) and a 7-fold increase in sperm ROS+ (10.8 vs. 74.4%) were recorded between fresh and frozen/thawed semen. The results strongly suggested that a significant loss of MMP and a disturbance in sperm ATP production during semen storage can be the main reason for the decline in sperm motility. The disturbance of mitochondria activity during storage seems to be associated with the increase in oxidative stress in turkey semen. Turkey sperm mitochondria also appear to be very sensitive to cryodamage. Diminished energy production in turkey spermatozoa, visible as the low percentage of sperm with an intact MMP and low level of ATP after freezing/thawing, which is associated with high ROS generation, could be responsible for the low fertilizing ability of cryopreserved turkey semen.
Effect of Vitamin D Supplementation on Markers of Vascular Function: A Systematic Review and Individual Participant Meta‐Analysis

Background Low 25‐hydroxyvitamin D levels are associated with an increased risk of cardiovascular events, but the effect of vitamin D supplementation on markers of vascular function associated with major adverse cardiovascular events is unclear. Methods and Results We conducted a systematic review and individual participant meta‐analysis to examine the effect of vitamin D supplementation on flow‐mediated dilatation of the brachial artery, pulse wave velocity, augmentation index, central blood pressure, microvascular function, and reactive hyperemia index. MEDLINE, CINAHL, EMBASE, Cochrane Central Register of Controlled Trials, and http://www.ClinicalTrials. gov were searched until the end of 2016 without language restrictions. Placebo‐controlled randomized trials of at least 4 weeks duration were included. Individual participant data were sought from investigators on included trials. Trial‐level meta‐analysis was performed using random‐effects models; individual participant meta‐analyses used a 2‐stage analytic strategy, examining effects in prespecified subgroups. 31 trials (2751 participants) were included; 29 trials (2641 participants) contributed data to trial‐level meta‐analysis, and 24 trials (2051 participants) contributed to individual‐participant analyses. Vitamin D3 daily dose equivalents ranged from 900 to 5000 IU; duration was 4 weeks to 12 months. Trial‐level meta‐analysis showed no significant effect of supplementation on macrovascular measures (flow‐mediated dilatation, 0.37% [95% confidence interval, −0.23 to 0.97]; carotid‐femoral pulse wave velocity, 0.00 m/s [95% confidence interval, −0.36 to 0.37]); similar results were obtained from individual participant data. Microvascular function showed a modest improvement in trial‐level data only. No consistent benefit was observed in subgroup analyses or between different vitamin D analogues. Conclusions Vitamin D supplementation had no significant effect on most markers of vascular function in this analysis.
Control functions within large cities and foreign direct investment in the transport sector: Empirical evidence from Poland

On the basis of inventory research carried out by the authors on single transport FDI, a hierarchy of the ten largest Polish cities is created, and then related to the number of inhabitants. The paper focuses on the location of corporate headquarters (HQs) serving various control (decision-making) functions and simultaneously playing an urban-creative role. The analysis confirms in part only the idea that the more advanced the branch of the economy, the more the city in which a corporate HQ is located is likely to occupy a higher rank in the administrative hierarchy, with a simultaneous large number of affiliates. The findings arise out of in-depth research, albeit on the basis of a relatively small number of incidences of foreign investment in the Polish transport sector. Whether it is the criteria of absolute amount of capital invested, number of employees or number of controlled investments, it is consistently the city of Warsaw and its metropolitan area that tops the rankings. Alongside inter-urban differentiation in transport FDI, analysis also confirms substantial intra-urban variation.
Deconflicted Air-Traffic Planning With Speed-Dependent Fuel-Consumption Formulation

This paper discusses a unique formulation for the en-route flight planning problem in a constrained airspace with the objective to minimize costs incurred from earliness, lateness, and fuel-consumption, and to ensure flight safety. Mid-air conflict and collision avoidance, and also minimum separation distance between aircraft and speed-dependent fuel-consumption-rate, are explicitly formulated. A 3D mesh network consisting of waypoints is used to provide alternative routing options for aircraft. The formulation of fuel-consumption-rate as a function of speed as part of the air-traffic planning (ATP) problem is unique in the literature. Moreover, this paper is the first attempt to model the mid-air conflict and collision avoidance as part of the ATP problem. In order to demonstrate the capabilities of the mathematical model, test instances were generated and solved by three different solution strategies. The proposed centralized solution strategy can optimally solve small size instances, similar to the air-traffic around airports to help air-traffic control authorities to manage arrival and departure sequences. Larger networks that include several airports can be solved by the proposed two sequential solution strategies (decentralized and hybrid solution strategies) to help air-traffic planning authorities to manage air-traffic safely and more economically.
Magnetic Resonance Neurography of the Lumbosacral Plexus in Failed Back Surgery Syndrome

Lumbar MRIs were inconclusive in 36% (8/22). MRN detected Study Design. Retrospective clinical case series. Objective. To study the role of magnetic resonance neurography (MRN) of the lumbosacral plexus in management of patients with failed back surgery syndrome (FBSS). Summary of Background Data. FBSS is one of the major problems in health care, affecting up to 40% of patients after spine surgery. To date, no imaging modality has been used to effectively classify nerve compression, because nerve injuries are challenging to detect on conventional lumbar spine magnetic resonance imaging (MRI). To our knowledge, no previous studies have addressed the use of MRN in FBSS or compared it to lumbar spine MRI. Methods. From 203 consecutive 3 T MRN studies of lumbosacral plexus in 1 year, 12% (25/203) presented as FBSS. Demographic data, number of previous lumbar MRIs and their findings, MRN findings, interval between MRI and MRN, pre-and post-MRN diagnosis, pain levels, and treatments were recorded. Changes in diagnosis, treatment, and outcomes after MRN were determined. Results. The final sample of 25 patients had a mean age 62 15 and male to female ratio 1:1.08. Approximately 88% (22/25) had previous lumbar MRI, of which 27% had 3 or more. Most common imaging findings were neuroforaminal stenosis 22.6% (7/31) on MRI and neuropathy 22.9% (19/83) on MRN. Mean interval between MRI and MRN was 13.9 28.3 months.
Magnitude and Temporal Variability of Inter-stimulus EEG Modulate the Linear Relationship Between Laser-Evoked Potentials and Fast-Pain Perception

The level of pain perception is correlated with the magnitude of pain-evoked brain responses, such as laser-evoked potentials (LEP), across trials. The positive LEP-pain relationship lays the foundation for pain prediction based on single-trial LEP, but cross-individual pain prediction does not have a good performance because the LEP-pain relationship exhibits substantial cross-individual difference. In this study, we aim to explain the cross-individual difference in the LEP-pain relationship using inter-stimulus EEG (isEEG) features. The isEEG features (root mean square as magnitude and mean square successive difference as temporal variability) were estimated from isEEG data (at full band and five frequency bands) recorded between painful stimuli. A linear model was fitted to investigate the relationship between pain ratings and LEP response for fast-pain trials on a trial-by-trial basis. Then the correlation between isEEG features and the parameters of LEP-pain model (slope and intercept) was evaluated. We found that the magnitude and temporal variability of isEEG could modulate the parameters of an individual's linear LEP-pain model for fast-pain trials. Based on this, we further developed a new individualized fast-pain prediction scheme, which only used training individuals with similar isEEG features as the test individual to train the fast-pain prediction model, and obtained improved accuracy in cross-individual fast-pain prediction. The findings could help elucidate the neural mechanism of cross-individual difference in pain experience and the proposed fast-pain prediction scheme could be potentially used as a practical and feasible pain prediction method in clinical practice.
Possible Sources of Bias in Primary Care Electronic Health Record Data Use and Reuse

Background Enormous amounts of data are recorded routinely in health care as part of the care process, primarily for managing individual patient care. There are significant opportunities to use these data for other purposes, many of which would contribute to establishing a learning health system. This is particularly true for data recorded in primary care settings, as in many countries, these are the first place patients turn to for most health problems. Objective In this paper, we discuss whether data that are recorded routinely as part of the health care process in primary care are actually fit to use for other purposes such as research and quality of health care indicators, how the original purpose may affect the extent to which the data are fit for another purpose, and the mechanisms behind these effects. In doing so, we want to identify possible sources of bias that are relevant for the use and reuse of these type of data. Methods This paper is based on the authors’ experience as users of electronic health records data, as general practitioners, health informatics experts, and health services researchers. It is a product of the discussions they had during the Translational Research and Patient Safety in Europe (TRANSFoRm) project, which was funded by the European Commission and sought to develop, pilot, and evaluate a core information architecture for the learning health system in Europe, based on primary care electronic health records. Results We first describe the different stages in the processing of electronic health record data, as well as the different purposes for which these data are used. Given the different data processing steps and purposes, we then discuss the possible mechanisms for each individual data processing step that can generate biased outcomes. We identified 13 possible sources of bias. Four of them are related to the organization of a health care system, whereas some are of a more technical nature. Conclusions There are a substantial number of possible sources of bias; very little is known about the size and direction of their impact. However, anyone that uses or reuses data that were recorded as part of the health care process (such as researchers and clinicians) should be aware of the associated data collection process and environmental influences that can affect the quality of the data. Our stepwise, actor- and purpose-oriented approach may help to identify these possible sources of bias. Unless data quality issues are better understood and unless adequate controls are embedded throughout the data lifecycle, data-driven health care will not live up to its expectations. We need a data quality research agenda to devise the appropriate instruments needed to assess the magnitude of each of the possible sources of bias, and then start measuring their impact. The possible sources of bias described in this paper serve as a starting point for this research agenda.
Guineafowl hind limb function. I: Cineradiographic analysis and speed effects

Avian striding bipedalism was studied in the helmeted guineafowl, Numida meleagris. High‐speed cineradiographs, light films, and videos were used to record hind limb movements across a wide range of speeds. In particular, direct visualization of the skeleton in X‐ray images allowed changes in pelvic and femoral position to be quantified with great accuracy for the first time. With the exception of limb protraction angle, all stride parameters are speed‐dependent. During the stance phase, guineafowl primarily employ knee flexion at very low speeds. At higher speeds, the magnitudes of hip and knee extension in the second half of stance progressively increase. Pelvic rotations are relatively small, but birds gradually pitch further forward with speed. An aerial phase is not present at speeds less than 2.0 m/sec, but discontinuities in the relationship of some parameters to speed indicate a gait transition near 0.9 m/sec.
Pharmaceutical films made from the waste material from the preparation of propolis extracts: development and characterization

Este estudo investigou o desenvolvimento e as caracteristicas fisico-quimicas de filmes obtidos com o residuo (BP), normalmente descartado, advindo da preparacao de extratos de propolis. Os filmes foram produzidos com e sem adjuvantes polimericos (gelatina ou etilcelulose) e propilenoglicol, pelo metodo de evaporacao de solvente. Foram determinadas a densidade, a topografia de superficie usando microscopia eletronica de varredura, as propriedades mecânicas (resistencia a dobra, tensao e elongacao), transmissao de vapor de agua (WVP), capacidade de absorcao de umidade, termogravimetria, calorimetria exploratoria diferencial e espectroscopia de infravermelho com transformada de Fourier (FTIR). Os filmes demonstraram coloracao verde-amarelada, transparencia, uniformidade de superficie, homogeneidade, flexibilidade e facil manuseio. A espessura e a densidade das preparacoes indicaram que os compostos estavam dispersos de forma homogenea. As propriedades mecânicas foram influenciadas pela composicao dos filmes e aqueles que continham gelatina apresentaram-se mais resistentes enquanto os compostos por etilcelulose demonstraram maior flexibilidade. Com o aumento da concentracao polimerica, a resistencia e a elasticidade diminuiam, porem aumentou a capacidade de absorcao de agua e a WVP das formulacoes. BP apresentou estabilidade termica assim como os filmes. Os testes de FTIR sugeriram interacoes entre o BP e os adjuvantes utilizados. Este trabalho pode contribuir com a utilizacao de BP na preparacao de filmes para uso alimenticio e farmaceutico.
Perception-aware modeling and fabrication of digital drawing tools

Digital drawing is becoming a favorite technique for many artists. It allows for quick swaps between different materials, reverting changes, and applying selective modifications to finished artwork. These features enable artists to be more efficient and creative. A significant disadvantage of digital drawing is poor haptic feedback. Artists are usually limited to one surface and a few different stylus nibs, and while they try to find a combination that suits their needs, this is typically challenging. In this work, we address this problem and propose a method for designing, evaluating, and optimizing different stylus designs. We begin with collecting a representative set of traditional drawing tools. We measure their physical properties and conduct a user experiment to build a perceptual space that encodes perceptually-relevant attributes of drawing materials. The space is optimized to both explain our experimental data and correlate it with measurable physical properties. To embed new drawing tool designs into the space without conducting additional experiments and measurements, we propose a new, data-driven simulation technique for characterizing stylus-surface interaction. We finally leverage the perceptual space, our simulation, and recent advancements in multi-material 3D printing to demonstrate the application of our system in the design of new digital drawing tools that mimic traditional drawing materials.
Telomere Length and Magnetic Resonance Imaging Findings of Vascular Brain Injury and Central Brain Atrophy: The Strong Heart Study

Telomeres are repeating regions of DNA that cap chromosomes. They shorten over the mammalian life span, especially in the presence of oxidative stress and inflammation. Telomeres may play a direct role in cell senescence, serving as markers of premature vascular aging. Leukocyte telomere length (LTL) may be associated with premature vascular brain injury and cerebral atrophy. However, reports have been inconsistent, especially among minority populations with a heavy burden of illness related to vascular aging. We examined associations between LTL and magnetic resonance imaging in 363 American Indians aged 64-93 years from the Strong Heart Study (1989-1991) and its ancillary study, Cerebrovascular Disease and Its Consequences in American Indians (2010-2013). Our results showed significant associations of LTL with ventricular enlargement and the presence of white matter hyperintensities. Secondary models indicated that renal function may mediate these associations, although small case numbers limited inference. Hypertension and diabetes showed little evidence of effect modification. Results were most extreme among participants who evinced the largest decline in LTL. Although this study was limited to cross-sectional comparisons, it represents (to our knowledge) the first consideration of associations between telomere length and brain aging in American Indians. Findings suggest a relationship between vascular aging by cell senescence and severity of brain disease.
Reflux laryngitis: an Otolaryngologist's perspective

Refl ux laryngitis is recognized as an extra-digestive manifestation of gastroesophageal refl ux. It has beco- me one of the most frequent reasons patients consult with otolaryngologists. In this review we present the otolaryngologist's point of view on this disease, and discuss the continuing controversy about its pathophysio- logy, diagnosis and treatment.