Miracle-dz/UniFAR-FTUs huggingface dataset:
Pseudometabolic presentation of dystrophinopathy due to a missense mutation

Exercise intolerance with myalgia, muscle stiffness, and recurrent rhabdomyolysis due to mutations in the DMD gene can mimic metabolic myopathies leading to delayed or inaccurate diagnoses. In this retrospective chart review, we report 3 unrelated boys with exertional myalgia, muscle stiffness, myoglobinuria, and normal neurological examination due to an identical point mutation in the DMD gene: a hemizygous T‐to‐C change in exon 15 (c.1724T>C) resulting in an amino acid substitution of leucine to proline at codon 575. Two of the 3 boys had normal dystrophin immunostaining and Western blot analysis in muscle. This missense mutation has been reported twice before, with at least 1 patient exhibiting rhabdomyolysis. Our report, however, is the first to describe in detail the clinical findings associated with this specific mutation. Further studies and clinical reports are needed to better understand the pathogenicity of the mutation. Muscle Nerve 42: 975–979, 2010
What Have 17-Year-Olds Known in the Past?

Calls by many for excellence in the 1980s were predicated upon and reinforced the perception that American education has declined; these calls stimulated the use of testing to assess the nation’s students. The results of a national test on American history and literature, reported in 1987 by Diane Ravitch and Chester Finn in What Do Our 17-Year-Olds Know? , seem to support a view of decline. This study attempts to determine how much American history high school students knew in the past and how this compares with Ravitch and Finn’s results. Several bases for comparison are reported: results of the earliest large-scale history test administrations, the content and difficulty of past nationally administered tests, and past student performance on individual test questions similar in content to questions in Ravitch and Finn’s test. The results suggest that students of the 1980s may not be demonstrably different from students in the past.
Moral Disengagement in Business and Humanities Majors: An Exploratory Study.

This study measures moral disengagement of undergraduate business and humanities students with a focus on differences in moral disengagement between genders. Students completed a survey that consisted of 32 statements and were asked to determine the degree to which they agreed with each, using a 7-point Likert scale. The questions measured moral justification, euphemistic labeling, advantageous comparisons, diffusion of responsibility, distortion of consequences, attribution of blame, and dehumanization. Only one significant difference was found between the business majors and the humanities majors. However, several differences were found when comparing responses from males and females both for the total sample and within each major classification. Finally, when comparing females between majors, no differences were found. However, three differences were found when comparing males by major. The results suggest gender differences exist in moral disengagement tendencies.
Age and preoperative pain are major confounders for sex differences in postoperative pain outcome: A prospective database analysis

Objectives Current literature is in disagreement regarding female sex as a risk factor for pain after surgery. We hypothesized, that sex differences exist but that they are influenced by certain factors. Here, we investigated the influence of sex for different clinically relevant postoperative pain (POP) outcome parameters and evaluated the role of assumed confounders for sex differences. Methods From 1372 screened patients undergoing orthopedic surgery at the university hospital of Muenster between March 2010 and June 2011, 890 patients were included. The validated International Pain Outcomes questionnaire was used to assess the role of sex for several aspects of POP including pain severity, physical and emotional functional interference as well as the patient’s perceptions of the care they received on the first day after surgery. Assessed confounders were age, preoperative chronic pain, anesthetic technique employed and surgical procedure. All statistical analyses were performed with SPSS Statistics Software 22. Results Linear regression analysis demonstrated that sex was a statistically significant risk factor for “worst pain since surgery”. Additionally, significant sex differences in “time spent in severe pain”, “feeling anxious due to pain”, “feeling helpless due to pain” and “opioid consumption since surgery” could be identified. An univariate general linear model showed that “age” and “preoperative pain” were significant confounders for sex differences. Further descriptive subgroup analysis revealed consistent sex differences for several POP outcome variables especially in patients older than 50 years or patients with preoperative chronic pain. However, sex differences disappeared in younger patients and in patients without preoperative pain. Discussion Our data confirmed that sex differences exist in pain intensity and frequency, pain interference with feelings and opioid consumption during the first 24 hours postoperatively. However, sex differences were significantly influenced by the factors “age” and “preoperative pain”. These findings may in part explain why clinical studies get different results related to sex differences and renders specific awareness in older women and female patients with preoperative chronic pain.
Informed RRT*: Optimal sampling-based path planning focused via direct sampling of an admissible ellipsoidal heuristic

Rapidly-exploring random trees (RRTs) are popular in motion planning because they find solutions efficiently to single-query problems. Optimal RRTs (RRT*s) extend RRTs to the problem of finding the optimal solution, but in doing so asymptotically find the optimal path from the initial state to every state in the planning domain. This behaviour is not only inefficient but also inconsistent with their single-query nature.
The development of an assistive robot for improving the joint attention of autistic children

In this paper, an assistive robot is proposed for children with autism to enhance their joint attention, the main focus of which is an interactive scenario with potential modalities to establish a learning environment for children with autism. In order to implement the above interactive scenario, the robot has to detect a child's intention at every time segment. For this purpose, a novel attention detection algorithm is proposed which is based on a Mixture Gaussian based unsupervised-clustering. A unique aspect of the proposed approach is does not require the use of any training data or models to detect a child' intention. Indeed, our algorithm is capable of detecting a child's intention when that child has a complex eye gaze pattern. These features are essential in the development of a robotic system for children with autism. The system was tested with autistic children who were attending a School for the Disabled. The results were quite impressive, revealing that the children were indeed attracted to the robot and had engaged in interactions with it for a lengthy period of time. Overall, the results showed that the children's joint attention skills improved when the number of interactive trials with them was processed. In addition, taking into account its joint attention performance with the children, the robot was able to change the interactive scenarios autonomously. The proposed unsupervised model was capable of detecting a child's intention at every time segment with a recognition rate of over 75%.
Lesions of nucleus accumbens affect morphine‐induced release of ascorbic acid and GABA but not of glutamate in rats

Our previous studies have shown that local perfusion of morphine causes an increase of extracellular ascorbic acid (AA) levels in nucleus accumbens (NAc) of freely moving rats. Lines of evidence showed that glutamatergic and GABAergic were associated with morphine‐induced effects on the neurotransmission of the brain, especially on the release of AA. In the present study, the effects of morphine on the release of extracellular AA, γ‐aminobutyric acid (GABA) and glutamate (Glu) in the NAc following bilateral NAc lesions induced by kainic acid (KA) were studied by using the microdialysis technique, coupled to high performance liquid chromatography with electrochemical detection (HPLC‐ECD) and fluorescent detection (HPLC‐FD). The results showed that local perfusion of morphine (100 µM, 1 mM) in NAc dose‐dependently increased AA and GABA release, while attenuated Glu release in the NAc. Naloxone (0.4 mM) pretreated by local perfusion to the NAc, significantly blocked the effects of morphine. After NAc lesion by KA (1 µg), morphine‐induced increase in AA and GABA were markedly eliminated, while decrease in Glu was not affected. The loss effect of morphine on AA and GABA release after KA lesion could be recovered by GABA agonist, musimol. These results indicate that morphine‐induced AA release may be mediated at least by µ‐opioid receptor. Moreover, this effect of morphine possibly depend less on the glutamatergic afferents, but more on the GABAergic circuits within this nucleus. Finally, AA release induced by local perfusion of morphine may be GABA‐receptor mediated and synaptically localized in the NAc.
Understanding Students' Perceptions of Difficulty with Academic Writing for Teacher Development: A Case Study of the University of Tokyo Writing Program

Summary This paper examines students’ perceptions of difficulty with academic writing in English. Writing seems to be one of the most important, yet difficult, academic skills for university students to learn. This is particularly the case with foreign or second language (L2) learners. While it is often claimed that the understanding of students’ difficulties is a necessary condition for becoming an ideal L2 teacher, few implications have been offered for teacher development in the literature of academic writing. The present study aims to deal with this issue using data obtained from 95 first-year Japanese university students. The results of the study show that the students tended to perceive academic writing to be difficult. In particular, they perceived language-related components of academic writing to be more difficult than structure/content-related components. Moreover, it was found that a great number of students expressed a high degree of difficulty with research design. This paper concludes with a discussion of some of the implications for teacher development.
Isoprenoid emission in trees of Quercus pubescens and Quercus ilex with lifetime exposure to naturally high CO2 environment

The long-term effect of elevated atmospheric CO 2 on iso- prenoid emissions from adult trees of two Mediterranean oak species (the monoterpene-emitting Quercus ilex L. and the isoprene-emitting Quercus pubescens Willd.) native to a high-CO 2 environment was investigated. During two con- secutive years, isoprenoid emission was monitored both at branch level, measuring the actual emissions under natural conditions, and at leaf level, measuring the basal emissions under the standard conditions of 30 ∞ C and at light intensity of 1000 m mol m - 2 s - - - 1 . Long-term exposure to high atmo- spheric levels of CO 2 did not significantly affect the actual isoprenoid emissions. However, when leaves of plants grown in the control site were exposed for a short period to an elevated CO 2 level by rapidly switching the CO 2 con- centration in the gas-exchange cuvette, both isoprene and monoterpene basal emissions were clearly inhibited. These results generally confirm the inhibitory effect of elevated CO 2 on isoprenoid emission. The absence of a CO 2 effect on actual emissions might indicate higher leaf temperature at elevated CO 2 , or an interaction with multiple stresses some of which (e.g. recurrent droughts) may compensate for the CO 2 effect in Mediterranean ecosystems. Under elevated CO 2 , isoprene emission by Q. pubescens was also uncoupled from the previous day's air temperature. In addi- tion, pronounced daily and seasonal variations of basal emission were observed under elevated CO 2 underlining that correction factors may be necessary to improve the realistic estimation of isoprene emissions with empirical algorithms in the future. A positive linear correlation of isoprenoid emission with the photosynthetic electron trans- port and in particular with its calculated fraction used for isoprenoid synthesis was found. The slope of this relation- ship was different for isoprene and monoterpenes, but did not change when plants were grown in either ambient or elevated CO 2 . This suggests that physiological algorithms may usefully predict isoprenoid emission also under rising CO 2 levels.
Motivations of farm tourism hosts and guests in the South West Tapestry Region, Western Australia: A phenomenological study

This paper describes a phenomenological investigation of the experience of farm tourism in the South West Tapestry Region of Western Australia from the perspective of both hosts and guests. The purpose of the study was to gain an understanding of what motivates people to operate a farm tourism business, and what motivates people to seek farm tourism holidays. In this context, phenomenology was applied as action research into the human dynamics of tourism. The study employs a combined methodological research model drawn from the work of distinguished phenomenologists to explicate the experience of hosts and guests. The phenomenological descriptions derived through the explication process encapsulate the invariant structures or essence of meaning for each group. The most significant of these structural meanings for guests was the desire to relax in the tranquility of the rural landscape and so recover from the stresses of their busy city lifestyle. Hosts were highly motivated to meeting new people, especially those with whom they shared a common interest. The motivations for the two groups were found to be highly compatible which augurs well for the future of farm tourism in the region.
Impact of the media and the internet on oncology: survey of cancer patients and oncologists in Canada.

PURPOSE To evaluate the use of the news media and the Internet as sources of medical information by patients and oncologists in Canada and to investigate the impact on patients' treatment decisions and the patient-doctor relationship. PATIENTS AND METHODS During a 2-week period, 191 ambulatory patients participated in the survey. Questionnaires were also mailed to Canadian oncologists: 410 of 686 questionnaires were returned (response rate = 60%). RESULTS Of the 191 patients, 86% wanted as much information as possible about their illness, 54% reported receiving insufficient information, 83% cited physicians as their primary information source, and 7% cited the Internet. Seventy-one percent of patients actively searched for information, and 50% used the Internet. Patients' opinions about the balance, accuracy, and relevance of news media reports were evenly split. English as the first language, access to the Internet, and use of alternative treatments predicted a higher rate of information seeking. Most oncologists routinely pay some attention to medical news and believe that it is difficult for patients to interpret medical information in the media and on the Internet accurately. Both patients and oncologists agree that information seeking does not affect the patient-physician relationship. CONCLUSION Information searching is common among cancer patients in Canada. It does not affect the patient-doctor relationship. The media and the Internet are powerful means of medical information dissemination. Strategic efforts are needed to improve the quality of medical news reporting by the media, and to provide guidance for patients to understand their disease and interpret such information better.
Chapter 6: Cooperative Activities in the Classroom

Cooperation is an important part of group life. Its benefits range from the autotelic quality of working along with others on a shared task to its perceived function as the cornerstone of modern democracy. In the classroom, cooperation is both a skill necessary for the accomplishment of learning activities and a general norm to be learned. However, the average classroom in the United States (and probably elsewhere) exposes students to instructional activities and evaluation systems that foster their dependence on the teacher, restrict productive interactions among students, and enhance divisive status distinctions among peers. Despite the concern of some educators, teacherdirected and whole-class activities persist in schools. The cooperative learning methods movement has been an attempt to rectify this situation. During the last 15 years, several important cooperative learning techniques have been developed and tested, and hundreds of accompanying studies have sought to document the value of one or another cooperative learning approach over "traditional" instruction. In general, the research has successfully demonstrated that student achievement is at least as high, and often higher, in cooperative learning activities as in traditional classrooms. At the same time, cooperative learning methods seem to promote positive interpersonal relations, motivation to learn, and self-esteem among students. Recent meta-analyses suggest that the benefits of cooperative learning activities hold for students at all age levels, for all subject areas, and for a wide range of tasks, such as those involving rote-decoding, retention, and memory skills, as well as problem-solving ability (Johnson, Johnson, & Maruyama, 1983; Johnson, Maruyama, Johnson, Nelson, & Skon, 1981; Slavin, 1983).
Molecular Neuroscience Review Article

The physiological functions and pathological roles of the Glycogen synthase kinase-type 3 (GSK3) kinases in peripheral and central systems are diverse and complex, and therefore hard to unravel in molecular detail in vivo. Our assignment to review and discuss available data to clarify the actual position of these kinases in the pathology of Alzheimer's dementia (AD) was both ambitious and easy. On the one hand, numerous studies are available in isolated, recombinant, or cell-based systems, which have resulted in very diverse data-sets that are hardly informative for the brain in vivo. At the other extreme, reliable, and relevant models for the role of GSK3 in CNS are rare, if not lacking. Moreover, (too) many in vivo studies used Li + as " specific " inhibitor of GSK3, which is factually not valid because lithium ions are neither specific nor potent inhibitors of GSK3 in vivo. More specific pharmacological inhibitors of GSK3 have met with considerable problems, and are reviewed by others in this issue or elsewhere. We concentrate here on AD-related aspects of GSK3 in brain in vivo, mainly studied in transgenic mice and highlight some of the more important issues, among many remaining: activation of GSK3 by amyloid, phosphorylation of protein tau, effects on or interference with synaptic activity, differentiation between both GSK3 isoforms. These relate directly to brain function, and brain dysfunction in AD, and are to be resolved if we want to understand the molecular pathology of this dreadful disease. ALZHEIMER'S DISEASE The term dementia stems from latin words meaning " without mind " or " de-humanized, " without any doubt the most horrifying condition a human being can experience. Dementia comprises the age-related deterioration of cognitive abilities and memory, associated with severe changes in personality, in character, in interests (or rather lack thereof), in social, and in general behavior. Progressive dementia closely connects to aging and is therefore rapidly becoming a prime problem for the aging populations of any nation where life expectancy exceeds 65 years. In parallel with improved health and medical care, the ever increasing life expectancy promotes age-related dementia as a major medical and socioeconomic problem, next to vascular disease and cancer. It is estimated that already over 10 million people suffer dementia in Europe, and about 40 million worldwide (data 2010). These numbers will likely double every next 20 years (Alzheimer's disease International; World Alzheimer Report, 2009). Because dementing patients are to …
TakeLab: Systems for Measuring Semantic Text Similarity

This paper describes the two systems for determining the semantic similarity of short texts submitted to the SemEval 2012 Task 6. Most of the research on semantic similarity of textual content focuses on large documents. However, a fair amount of information is condensed into short text snippets such as social media posts, image captions, and scientific abstracts. We predict the human ratings of sentence similarity using a support vector regression model with multiple features measuring word-overlap similarity and syntax similarity. Out of 89 systems submitted, our two systems ranked in the top 5, for the three overall evaluation metrics used (overall Pearson -- 2nd and 3rd, normalized Pearson -- 1st and 3rd, weighted mean -- 2nd and 5th).
p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi–Goutières syndrome

Aicardi–Goutières syndrome is an early‐onset severe neurological disorder characterized by intracranial calcification, white matter abnormalities, hepatosplenomegaly, cerebrospinal fluid lymphocytosis, and elevated interferon‐α levels, thus mimicking congenital viral infections. It is a genetically heterogeneous condition and autosomal recessive and autosomal dominant forms with variations in seven genes known till date. Variations in RNASEH2C cause an autosomal recessive form of AGS. Here we report three Indian families with variant, c.205C>T (NM_032193.3, p.Arg69Trp) in RNASEH2C gene identified by whole‐exome sequencing and targeted molecular testing of the variant. Review of literature and our data suggest this is likely to be a founder variant in Asians and it would be a good initial variant to screen in patients with Aicardi–Goutières syndrome in Indians.
Reflective practice as a determinant of performance outcomes in services

Purpose – The purpose of this paper is to examine the outcomes of reflective practices in services. The paper contributes to the current understanding of the relationship between reflective practice and outcomes by presenting a description of the internal (i.e. what kind of reflection is required to attain the desired outcomes) and external (i.e. under what kind of circumstances does reflection result in the desired outcomes) factors of reflective practices. Design/methodology/approach – The results of this investigation are based on a mixed-method research approach that utilises both quantitative and qualitative data collection methods. Findings – According to the results, reflective practices are indeed connected to outcomes. Reflective practices foster better outcomes when they are more explicit and targeted through different organisational levels. The role of performance management and measurement is important in connecting the reflective practices with performance. Performance management must be cons.