Miracle-dz/UniFAR-FTUs huggingface dataset:
Compliance to Care Guidelines for Duchenne Muscular Dystrophy

Background International care guidelines for Duchenne muscular dystrophy (DMD) were published in 2010, but compliance in clinical practice is unknown. Objective The objective of our study was to compare real-world DMD care in Germany, Italy, the UK, and the US with the clinical recommendations. Methods DMD patients from Germany, Italy, the UK, and the US were identified through Translational Research in Europe – Assessment & Treatment of Neuromuscular Diseases (TREAT-NMD) registries and invited with a caregiver to complete a questionnaire with questions regarding DMD-related healthcare. Estimates of care were stratified by disease stage (early/late ambulatory/non-ambulatory) and compared against the care guidelines. Results A total of 770 patients (173 German, 122 Italian, 191 UK, and 284 US) completed the questionnaire. Poor compliance to guidelines of routine follow-up by neuromuscular, cardiac, and respiratory specialists, physiotherapy, and access to medical devices and aids were observed in all countries. Less than 27% (209 of 770) of patients met all absolute recommendations, ranging from 9% (11 of 122) in Italy to 37% (70 of 191) in the UK, and from 49% (76 of 155) in the early ambulatory class to 16% (33 of 205) in the late non-ambulatory class. Conclusions We show that the medical management of DMD varies substantially between Germany, Italy, the UK, and the US. Experience of real-world DMD care appears to be in poor agreement with the DMD clinical guidelines and increased compliance is urgently needed to improve treatment outcomes and enable patients to lead fulfilling, independent lives into adulthood.
Acute and Chronic 1-Methyl-4-Phenyl-1,2,3,6-Tetrahydropyridine Administrations Elicit Similar Microglial Activation in the Substantia Nigra of Monkeys

Increasing evidence suggests a pivotal role for neuroinflammation in the pathogenesis of Parkinson disease, but whether activated microglia participate in disease progression remains unclear. To clarify this issue, we determined the numbers of activated microglial cells in the substantia nigra pars compacta and ventral tegmental area of monkeys subacutely and chronically exposed to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP). Monkeys in the subacute MPTP treatment group were killed 1 week after the last MPTP injection; chronically treated monkeys were killed either 6 or 35 months after the last MPTP injection. Subacute MPTP administration induced loss of dopaminergic neurons in the substantia nigra pars compacta and ventral tegmental area and microglial activation in the same areas. Chronic MPTP treatment resulted in greater dopaminergic neuron depletion in both treatment groups. Both groups of chronic MPTP-treated monkeys showed increased numbers of activated microglial cells in the substantia nigra pars compacta that were similar to those of the subacute MPTP treatment group. These results indicate that microglial activation seems to be induced mainly by the toxic effects of MPTP and that it does not further progress once the toxin administration has been terminated. This suggests that the progressive degeneration of nigral cells in Parkinson disease may not necessarily be associated with progressively increased microglial activation.
Local Tenomodulin Absence, Angiogenesis, and Matrix Metalloproteinase Activation Are Associated With the Rupture of the Chordae Tendineae Cordis

Background— Rupture of the chordae tendineae cordis (CTC) is a well-known cause of mitral regurgitation. Despite its importance, the mechanisms by which the CTC is protected and the cause of its rupture remain unknown. CTC is an avascular tissue. We investigated the molecular mechanisms underlying the avascularity of CTC and the correlation between avascularity and CTC rupture. Methods and Results— We found that tenomodulin, which is a recently isolated antiangiogenic factor, was expressed abundantly in the elastin-rich subendothelial outer layer of normal rodent, porcine, canine, and human CTC. Conditioned medium from cultured CTC interstitial cells strongly inhibited tube formation and mobilization of endothelial cells; these effects were partially inhibited by small-interfering RNA against tenomodulin. The immunohistochemical analysis was performed on 12 normal and 16 ruptured CTC obtained from the autopsy or surgical specimen. Interestingly, tenomodulin was locally absent in the ruptured areas of CTC, where abnormal vessel formation, strong expression of vascular endothelial growth factor-A and matrix metalloproteinases, and infiltration of inflammatory cells were observed, but not in the normal or nonruptured area. In anesthetized open-chest dogs, the tenomodulin layer of tricuspid CTC was surgically filed, and immunohistological analysis was performed after several months. This intervention gradually caused angiogenesis and expression of vascular endothelial growth factor-A and matrix metalloproteinases in the core collagen layer in a time-dependent manner. Conclusions— These findings provide evidence that tenomodulin is expressed universally in normal CTC in a concentric pattern and that local absence of tenomodulin, angiogenesis, and matrix metalloproteinase activation are associated with CTC rupture.
Current status of dental caries diagnosis using cone beam computed tomography

Purpose The purpose of this article is to review the current status of dental caries diagnosis using cone beam computed tomography (CBCT). Materials and Methods An online PubMed search was performed to identify studies on caries research using CBCT. Results Despite its usefulness, there were inherent limitations in the detection of caries lesions through conventional radiograph mainly due to the two-dimensional (2D) representation of caries lesions. Several efforts were made to investigate the three-dimensional (3D) image of lesion, only to gain little popularity. Recently, CBCT was introduced and has been used for diagnosis of caries in several reports. Some of them maintained the superiority of CBCT systems, however it is still under controversies. Conclusion The CBCT systems are promising, however they should not be considered as a primary choice of caries diagnosis in everyday practice yet. Further studies under more standardized condition should be performed in the near future.
One-Shot Lossy Quantum Data Compression

We provide a framework for one-shot quantum rate distortion coding, in which the goal is to determine the minimum number of qubits required to compress quantum information as a function of the probability that the distortion incurred upon decompression exceeds some specified level. We obtain a one-shot characterization of the minimum qubit compression size for an entanglement-assisted quantum rate-distortion code in terms of the smooth max-information, a quantity previously employed in the one-shot quantum reverse Shannon theorem. Next, we show how this characterization converges to the known expression for the entanglement-assisted quantum rate distortion function for asymptotically many copies of a memoryless quantum information source. Finally, we give a tight, finite blocklength characterization for the entanglement-assisted minimum qubit compression size of a memoryless isotropic qubit source subject to an average symbolwise distortion constraint.
Environmental Risk Factors in Han and Uyghur Children with Dyslexia: A Comparative Study

Background Several studies have been conducted to explore risk factors for dyslexia. However, most studies examining dyslexia have been skewed toward Western countries, and few have considered two nationalities simultaneously. This study focused on differences in dyslexia prevalence and potential environmental risk factors between Han and Uyghur children. Methods A cross-sectional study was conducted in Kashgar and Aksu, cities in Xinjiang province, China. A two-stage sampling strategy was used to recruit 2,854 students in grades 3–6 from 5 primary schools in 5 districts; 2,348 valid student questionnaires were included in the analysis. Dyslexia checklists for Chinese and Uyghur children and pupil rating scales were used to identify children with dyslexia. Questions related to the home literacy environment and reading ability were used to evaluate potential environmental risk factors. Single factor analysis and multivariate logistic regression were used to examine prevalence and risk factors for dyslexia. Results Dyslexia prevalence differed significantly between Han (3.9%) and Uyghur (7.0%) children (P < 0.05), and the boy-to-girl diagnosis ratio was almost 2:1. Multiple logistic regression analysis showed that ethnic differences in dyslexia prevalence between Han and Uyghur children could have occurred because of factors such as mother’s occupation (P = 0.02, OR = 0.04, 95% CI = 0.01–0.68) and the frequency with which parents told stories (P = 0.00, OR = 4.50, 95% CI = 1.67–12.11). Conclusions The prevalence of dyslexia was high in all children, particularly those in the Uyghur group. Environmental factors could have been responsible for some of the differences observed. The results contribute to the early identification and management of dyslexia in children from these two groups and research examining developmental dyslexia and differences in racial genetics.
Risk of congenital anomalies in relation to the uptake of trihalomethane from drinking water during pregnancy

Objectives Congenital anomalies have been inconsistently associated with maternal crude estimated exposure to drinking water trihalomethane (THM). We investigated the relationship between individual THM uptake during the first trimester of pregnancy and congenital anomalies. Methods We estimated maternal THM uptake for 3074 live births using residential tap water concentrations, drinking water ingestion, showering and bathing, and uptake factors of THM in the blood. Multiple logistic regression was used to investigate the association of THM exposure with congenital anomalies. Results We observed no statistically significant relationships between congenital anomalies and the total THM internal dose. We found little indication of a dose-response relationship for brominated THM and congenital heart anomalies. The relationship was statistically significant for bromodichloromethane (BDCM) (OR=2.16, 95% CI 1.05 to 4.46, highest vs lowest tertile) during the first month of pregnancy. During the first trimester of pregnancy, the probability of developing heart anomalies increased for every 0.1 μg/d increase in the BDCM and for every 0.01 μg/d increase in the internal dibromochloromethane (DBCM) dose (OR 1.70, 95% CI 1.09 to 2.66, and OR 1.25, 95% CI 1.01 to 1.54, respectively). A dose-response relationship was evident for musculoskeletal anomalies and DBCM exposure during the first and second months of pregnancy, while BDCM exposure tended to increase the risk of urogenital anomalies. Conclusions This study shows some evidence for an association between the internal dose of THM and the risk of congenital anomalies. In particular, increased prenatal exposure to brominated THM might increase the risk of congenital heart and musculoskeletal anomalies.
A measurement study regarding quality of service and its impact on multiplayer online games

In this paper we study the impact of network parameters including delay, delay jitter, and packet loss on the outcome of multiplayer online games. We use a measurement methodology that allows for automating game experiments using an artificial intelligence that runs on the game clients and eliminates the need for human interaction. Thus, we were able to perform thousands of experiments with different network configurations to investigate their influence on the game outcome systematically. Complementary to previous studies, we provide a solid data basis for statistical analysis. We derive probabilistic models that allow for calculating score and win probabilities and verify their accuracy using our measurements. As a result we are able to predict the outcome statistics of an ideal game with respect to network conditions.
Linkage analysis using sex-specific recombination fractions with GENEHUNTER-MODSCORE

MOTIVATION Sex-specific marker maps have become increasingly available. We have implemented the usage of sex-specific recombination frequencies in the GENEHUNTER-MODSCORE program that performs multipoint linkage analysis. Furthermore, we have devised a consistent method to choose the combinations of male and female genetic positions at which linkage scores should be calculated. Marker coordinates can be read automatically from publicly available genetic maps. RESULTS In a MOD-score analysis of the COGA dataset provided for Genetic Analysis Workshop 14, the highest linkage peak on chromosome 1 further increases when using sex-specific maps, while some smaller peaks are decreased. Simulations confirm that the MOD score can be biased when a sex-averaged instead of the correct sex-specific map is employed. This shows that an adequate modeling of the female:male ratio of genetic distances is important, especially for complex traits. AVAILABILITY The new version of GENEHUNTER-MODSCORE can be downloaded from the following website: http://www.staff. uni-marburg.de/~strauchk/software.html
Leukemia in Acute Lymphoblastic α Stromal-Derived Factor-1 Impairs Chemotaxic but not Proliferative Responses to Defective p 38 Mitogen-Activated Protein Kinase Signaling

The chemokine stromal-derived factor-1A (SDF-1A) regulates leukemic cell motility and proliferation; however, the importance of these functions in the growth and dissemination of leukemia is unclear. We examined SDF-1A–mediated responses of cells from 27 cases of acute lymphoblastic leukemia (ALL). Although cells from the majority of cases showed chemotactic and proliferative responses to SDF-1A, a subset of cases did not undergo chemotaxis in response to SDF-1A, while still demonstrating dependence on SDF-1A for proliferation in stroma-supported cultures. This chemotactic defect was associated with an absence of phosphorylation ofp38 mitogen-activated protein kinase (MAPK) induced by SDF-1A, and of SDF-1A–induced augmentation of B1 integrin– mediated adhesion. Signaling through phosphoinositide 3kinase and MEKwas not affected. No correlation was observed between CXCR4 expression and chemotactic function, in vitro migration into bone marrow stromal layers, and engraftment of leukemic cells in nonobese diabetic/severe combined immunodeficient (NOD/SCID) mice. This study suggests that signaling through p38 MAPK is required for ALL cell chemotaxis but not for proliferation, and that the loss of a chemotactic response to SDF-1A does not impede engraftment in NOD/SCID mice. (Cancer Res 2005; 65(8): 3290-8)
Decentralized human milk banking with ODK sensors

Developing countries are faced with the daunting challenge of lowering their neonate and child mortality rates. Studies have indicated that up to 13% of the deaths of children under the age of five could be prevented by breastfeeding alone. One key barrier is the availability of breast milk for vulnerable infants (those born pre-term, with low birth-weight, to HIV-positive mothers, or orphaned at birth). One strategy to increase availability of breast milk is establishing human milk banks that process donor milk. However, it has been difficult to provide safe, pasteurized donor breast milk to infants in developing countries due to cost and lack of infrastructure. Low-cost pasteurization methods require rigorous temperature monitoring and quality assurance processes for adoption at scale. In this paper, we present an affordable system to monitor breast milk pasteurization. It leverages mobile and sensing technologies to enhance an existing, low-cost pasteurization method called flash heat pasteurization. A mobile application, running on an Android phone that is connected to a temperature probe, monitors milk temperatures during pasteurization, and provides audiovisual feedback to guide users performing the procedure. At the end of the procedure, users are able to print a pasteurization report, and labels for pasteurized milk jars from the mobile application. The pasteurization temperature curve is also uploaded to a server that enables supervisors to remotely review procedures and perform audits to ensure that procedures are being performed correctly. We discuss the lessons learned from ongoing deployments at two locations in Durban, South Africa. To date they have processed microbial assays for 40 donor milk samples in which 31 samples showed microbial activity pre-pasteurization, while none of the post-pasteurized samples show any microbial growth. We are currently working with the Human Milk Banking Association of South Africa to scale up the use of the system to more sites.
SPHARM-Based Spatial fMRI Characterization With Intersubject Anatomical Variability Reduction

It has been recently shown that spatial patterns of activation within regions of interest (ROIs) in functional magnetic resonance imaging (fMRI) data can be used as sensitive markers of brain activation differences. In this paper, we propose novel invariant features for characterizing such spatial activation patterns based on spherical harmonic (SPHARM) data representations. The proposed three dimensional (3-D) spatial features are novel in that; first, they provide a unique representation of any ROI's functional data; second, they simultaneously account for inherent inter-subject anatomical variability that may influence any spatial characterization; third, they are invariant to similarity transformations and hence allow for direct comparisons between ROIs without any requirement for normalization to an atlas. We present quantitative validation demonstrating our method's improved sensitivity in performing group analysis when compared to traditional spatial normalization using synthetic data at the ROI level. We also use the proposed technique along with traditional normalization approach on real fMRI data collected from PD patients and normal subjects. The proposed features provide a powerful means to sensitively detect group-wise changes in ROI-based fMRI activation patterns even in the presence of anatomical variability.
Mental health practitioners' attitudes towards transgender people: A systematic review of the literature

ABSTRACT Background: A systematic review was conducted to critically evaluate and synthesize literature investigating mental health practitioners' attitudes towards transgender people. Objective: Three primary objectives were outlined; first, establish whether overall attitudes are positive or negative. Second, explore whether training, education or experience influences attitudes and finally, examine participant demographics in relation to attitude trends. Method: A systematic electronic search was carried out in March 2017 using Medline, PsycINFO, PsycArticles, CINAHL, ASSIA, and Web of Science electronic databases. Manual citation and ancestral searches were conducted on identified papers. Qualitative, quantitative and mixed method studies were eligible for inclusion. A total of 13 papers of mixed quality were identified. Results: Existing literature is limited to cross-sectional, quantitative data and fails to investigate differences between implicit and explicit attitudes. Small to moderate convenience samples reduce the generalizability of data. Overall attitudes were positive although negative attitudes were more frequent in male, Caucasian, heterosexual, religious, conservative mental health professionals. Conclusions: Refined scales are needed to address the unique heterogeneity within transgender populations. Future research should focus on how attitudes impact care provided and employ longitudinal designs to explore the sustainability of targeted attitudinal training.
Automatic graphical abstraction in intent-based 3D-illustrations

The purpose of this paper is to present models, methods and techniques to control automatically the degree of details in graphics or animation in an intelligent way. Instead of just aiming at the technical advantages of such a reduction (i.e. saving computer memory and computational load), this work focuses on clarifying the intention of graphics or animation with the means of abstraction. The goal is to direct the viewer's attention to relevant parts of the graphics, without using metaobjects or - colours (e.g. arrows, blinking objects etc.) and to reduce the probability of distracting the viewer's attention by unimportant details.The paper describes the major problems of this task and provides a knowledge-based solution to yield an intelligent control of the level of detail, improving the expressivity of the graphics or animation and saving computational resources at the same time. To emphasize the plausibility of these ideas the graphical abstraction system ARP is presented and its results are discussed.
Effectiveness of Audio Information for Note-Taking and Learning Activities During a Fully Online Course

Audio information plays a key role in the learning environment. The effectiveness of audio information on note-taking and learning performance was examined using survey data from a fully online course. First, metrics of note-taking activities were measured using the relationships between these lexical features, and their contributions to learning performance were then examined. In particular, the effectiveness of learning materials presented as slide contents or audio information was compared. Second, some relationships between these metrics and the scores of learning performance evaluations were analysed, and the effectiveness of audio information was qualified using regression analysis. The results indicate that audio information significantly affects both the contents of notes taken and learning performance.
Microevolution of Outbreak-Associated Middle East Respiratory Syndrome Coronavirus, South Korea, 2015

During the 2015 Middle East respiratory syndrome coronavirus outbreak in South Korea, we sequenced full viral genomes of strains isolated from 4 patients early and late during infection. Patients represented at least 4 generations of transmission. We found no evidence of changes in the evolutionary rate and no reason to suspect adaptive changes in viral proteins.
Justice at risk! An evaluation of a pseudoscientific analysis of a witness’ nonverbal behavior in the courtroom

Abstract Psychology and law have developed as disciplines through rigorous data collection, exploration and analysis, and the publication of findings through peer-review processes. Such findings are then used to implement evidence-based practices within a variety of settings. However, in parallel to factually and scientifically based knowledge, ‘alternative’ science, or pseudoscience, has gained in popularity. The present case study aims to evaluate the empirical evidence and theoretical underpinnings of a publically accessible analysis of a suspected serial killer’s nonverbal behavior during a bond hearing published online by two ‘synergologists’. The case study emphasizes how a ‘synergological’ analysis to understanding and interpreting human behavior fails to use empirical data, making generalized inferences based on erroneous assumptions. The case study also highlights the detrimental effects such assumptions may have within the justice system and why pseudoscientific analytical approaches should be vigorously challenged by research scientists.
A complete algorithm to find exact minimal polynomial by approximations

Based on an improved parameterized integer relation construction method, a complete algorithm is proposed for finding an exact minimal polynomial from its approximate root. It relies on a study of the error controlling for its approximation. We provide a sufficient condition on the precision of the approximation, depending only on the degree and the height of its minimal polynomial. Our result is superior to the existent error controlling on obtaining an exact rational or algebraic number from its approximation. Moreover, some applications are presented and compared with the subsistent methods.