Miracle-dz/UniFAR-FTUs huggingface dataset:
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11–17 distinct from the GAP related domain

Neurofibromatosis type 1 (NF1), formerly known as Von Recklinghausen Neurofibromatosis, is a common genetic disorder affecting approximately 1 in 3000–5000 people. It is a fully penetrant autosomal dominant disorder. Strict diagnostic criteria that include cafe au lait spots, neurofibromas, plexiform neurofibromas, freckling in the axillary or inguinal regions, Lisch nodules (iris haematomas), optic or chiasma glioma, pseudoarthrosis, and sphenoid dysplasia define NF1. Most disease features are present in more than 90% of patients at puberty.1 Further manifestations are known to occur in this disorder, including macrocephaly, short stature, learning difficulties, scoliosis and certain malignancies.2–4 There is, however, great intra and interfamilial phenotypic variability. In addition a number of patients who have a clinical picture suspected to be NF1 do not fulfil the diagnostic criteria particularly in the younger age groups. As a consequence genetic testing would have a major impact on the diagnosis and management of these families. The NF1 gene maps to chromosome 17q11.2 and is thought to be a tumour suppressor gene because loss of heterozygosity is associated with the occurrence of benign and malignant tumours in tissues derived from the neural crest5–7 as well as myeloid malignancies.8 It spans a region of about 350 kb of genomic DNA and contains 60 exons.9–11 It harbours at least three other embedded genes—EV12A, EV12B, and ONGP—transcribed from the opposite strand of NF1 intron 27b. The NF1 gene transcribes several mRNAs in the size range 11–13 kb expressed in neurones, oligodendrocytes and non-myelinating Schwann cells.12 The most common transcript codes for a polypeptide of 2818 amino acids called neurofibromin.13–15 A 360 amino acid region of the predicted protein product shows homology with the GTPase activating (GAP) family of proteins in yeast and mammals.16 The GAP related domain (GRD) is …
Should I Pay More? The Relationship Between Normative Beliefs and Willingness-to-Pay for Organic and Local Products

Messages promoting the environmental movement try to establish normative beliefs (NBs), stressing that consumers should purchase and be willing to pay more for products that do not harm the environment. Through two studies measuring willingness-to-pay (WTP) intentions and WTP behavior, NBs do relate positively to WTP intentions for organic products. However, NBs do not relate positively to actual WTP directly, nor do they relate indirectly through the mediating role of WTP intentions. These same results are found for locally produced offerings, suggesting that those who rely on NBs to bioect WTP behavior may only be successful in increasing WTP intentions.
Lernen mit Multimedia

Zusammenfassung. Paradigmatisch fur die kognitive Multimediaforschung ist der sog. Modalitatseffekt, der besagt, dass das Lernen mit Bildern und Texten besser gelingt, wenn Texte auditiv und nicht visuell dargeboten werden. In den einschlagigen Multimediatheorien wird dieser Effekt damit erklart, dass Bilder und visuelle Texte das gleiche Arbeitsgedachtnissystem belasten, wahrend auditive Texte eine zusatzliche Ressource erschliesen. Wir diskutieren diese Annahme kritisch anhand einschlagiger Arbeitsgedachtnismodelle und stellen eine alternative Konzeption vor, nach der der oben beschriebene Modalitatseffekt einerseits auf unterschiedliche Restriktionen der Wahrnehmungssysteme und andererseits auf den in der Gedachtnispsychologie bekannten Modalitatseffekt (also auf die Nutzung akustisch-sensorischer Information fur die letzten ein bis zwei Items einer Liste) zuruckgefuhrt wird.
This Work Is Licensed under a Creative Commons Attribution 3.0 Unported License Date Deposited: Eeg Potentials Associated with Artificial Grammar Learning in the Primate Brain

associated with artificial grammar learning in the primate brain. a b s t r a c t Electroencephalography (EEG) has identified human brain potentials elicited by Artificial Grammar (AG) learning paradigms, which present participants with rule-based sequences of stimuli. Nonhuman animals are sensitive to certain AGs; therefore, evaluating which EEG Event Related Potentials (ERPs) are associated with AG learning in nonhuman animals could identify evolutionarily conserved processes. We recorded EEG potentials during an auditory AG learning experiment in two Rhesus macaques. The animals were first exposed to sequences of nonsense words generated by the AG. Then surface-based ERPs were recorded in response to sequences that were 'consistent' with the AG and 'violation' sequences containing illegal transitions. The AG violations strongly modulated an early component, potentially homologous to the Mismatch Negativity (mMMN), a P200 and a late frontal positivity (P500). The macaque P500 is similar in polarity and time of occurrence to a late EEG positivity reported in human AG learning studies but might differ in functional role. To better understand the neurobiology of human language requires distinguishing language-specific processes from cognitive, domain-general processes not restricted to language Thus insights into how the human brain has specialised for language could come from cross-species comparative neurobiology. However, all comparative efforts depend on first finding evidence for shared abilities on tasks thought to be associated with language-related processes in humans and second, testing nonhuman animals using neurobiological techniques commonly used in humans. AG learning paradigms have been used to explore the abilities of adult humans, pre-verbal infants and nonhuman animals to process different AG learning studies the participant is exposed to exemplary sequences of stimuli generated by the AG. In a subsequent testing phase, the participant's responses to 'consistent' sequences that follow the AG are evaluated relative to those that violate it. Different responses to 'violation' versus consistent sequences can provide evidence that the participant is sensitive to the properties of the AG. The behavioural literature has highlighted potentially conserved capabilities associated with AG learning in humans and other animals. Nonhuman animals, including primates, have been shown to be sensitive to a range of simple and moderate complex
“Sensible” Suicide, Brutal Selfishness, and John Hughes’s Queer Bonds

Queer bonds conceptualize inventive and resistant modes of belonging, sociability, and relation that push at, through, and outside normative relational systems and their normative commitments. The essay juxtaposes contemporary gay suicide discourse, specifically the “It Gets Better” campaign and 2009’s Prayers for Bobby with the 1985 Molly Ringwald made-for-TV film Surviving: A Family in Crisis, examining how normative familial bonds in discourses of heterosexual suicide produce a resistant and relational discourse of brutal selfishness. Contrary to a rhetoric of selfishness, mediated representation of gay youth suicide reproduces a discursive link between gay identity and suicide that constructs gay suicide as problematically logical, sensible, and intelligible. Conceptualizing a queered rhetoric of selfishness, resisting gay suicidal logics, the essay looks to queer bonds forged in John Hughes’s ‘Brat Pack” films of otherness as maps of relational resistance and inventive articulations of non-normative modes of queer selfishness and belonging.
Bacteriophage T4 resistance to lysis-inhibition collapse.

Lysis inhibition is a mechanism of latent-period extension and burst-size increase that is induced by the T4 bacteriophage adsorption of T4-infected cells. Mutants of T4 genes imm, sp and 5 (specifically the ts1 mutant of 5) display some lysis inhibition. However, these mutants experience lysis-inhibition collapse, the lysis of lysis-inhibited cells, earlier than wild-type-infected cells (i.e. their collapse occurs prematurely). Lysis from without is a lysis induced by excessive T4 adsorption. Gp5 is an inducer of lysis from without while gpimm and gpsp effect resistance to lysis from without. This paper shows that interfering with the adsorption of phages to imm-, sp- or 5ts1-mutant-infected cells, in a variety of contexts, inhibits premature lysis-inhibition collapse. From these data it is inferred that wild-type T4-infected cells display resistance to lysis-inhibition collapse by a mechanism resembling resistance to lysis from without.
THE AFTER-EFFECTS OF A PROLONGED PERIOD OF DAY-SLEEP ON SUBJECTIVE SLEEP QUALITY

Abstract The effects of day-sleep on the quality ofsleep are not restricted to the night-work period itself. Effects can be measured during night-sleep in the period following night-work. A study on these after-effects, using a self-report instrument to measure sleep quality, is described. A total of N=7O operators wcrc observed over five consecutive undisturbed nights after a working period of seven morning shifts (N= 35) and after a working period of seven night-shifts (N= 35). The quality of sleep during the third night after the night-shift period was still significantly worse than the third night after the rnorning-shift period. No differential (after-)effects were observed with respect to differences in sleep duration.
Nonlinear modeling of power-factor-correction converter

Recently, power factor correction (PFC) boost converters have been reported as exhibiting a wide range of bifurcations and chaos under specific conditions [1]. In this paper, we derived a nonlinear model from one point of observation to the next. Analysis of this model shows that chaos and bifurcations may occur along with the changing values of some system parameters. A current-mode controlled PFC boost converter in chaotic behavior is chosen as an application example. A numerical simulation using MATLAB confirms the predicted bifurcations. Finally, a blockset model using Simulink/Matlab is designed to conclude the validity of the numerical simulation.
On the Design of Minimum Length Fault Tests for Combinational Circuits

Techniques for deriving the minimum length tests are developed for irredundant combinational circuits that contain single faults. The development is based on the Boolean difference function. The Boolean difference function is expanded to form two analytical expressions that can be used to calculate the tests for any stuck-at-zero and stuck-at-one fault within combinational circuits.
Decision trees, protocols and the entropy-influence conjecture

Given ƒ : {--1, 1}n → {-- 1, 1}, define the spectral distribution of ƒ to be the distribution on subsets of [n] in which the set S is sampled with probability ƒ(S)2. Then the Fourier Entropy-Influence (FEI) conjecture of Friedgut and Kalai [2] states that there is some absolute constant C such that H[ƒ2] ≤ C ⋅ Inf[ƒ]. Here, H[ƒ2] denotes the Shannon entropy of ƒ's spectral distribution, and Inf[ƒ] is the total influence of ƒ. This conjecture is one of the major open problems in the analysis of Boolean functions, and settling it would have several interesting consequences. Previous results on the FEI conjecture have been largely through direct calculation. In this paper we study a natural interpretation of the conjecture, which states that there exists a communication protocol which, given subset S of [n] distributed as ƒ2, can communicate the value of S using at most C⋅Inf[ƒ] bits in expectation. Using this interpretation, we are able show the following results: First, if ƒ is computable by a read-k decision tree, then H[ƒ2] ≤ 9k ⋅ Inf[ƒ]. Next, if ƒ has Inf[ƒ] ≥ 1 and is computable by a decision tree with expected depth d, then H[[ƒ2] ≤ 12d⋅ Inf[ƒ]. Finally, we give a new proof of the main theorem of O'Donnell and Tan [8], i.e. that their FEI+ conjecture composes. In addition, we show that natural improvements to our decision tree results would be sufficient to prove the FEI conjecture in its entirety. We believe that our methods give more illuminating proofs than previous results about the FEI conjecture.
WAVELET-BASED SIGNAL ANALYSIS WITH MULTIPLE SAMPLING RATES

We suggest an adaptive sampling rule for obtaining information from noisy signals using wavelet methods. The technique involves increasing the sampling rate when relatively high-frequency terms are incorporated into the wavelet estimator, and decreasing it when, again using thresholded terms as an empirical guide, signal complexity is judged to have decreased. Through sampling in this way the algorithm is able to accurately recover relatively complex signals without increasing the long-run average expense of sampling. It achieves this level of performance by exploiting the opportunities for near-real time sampling that are available if one uses a relatively high primary resolution level when constructing the basic wavelet estimator. In the practical problems that motivate the work, where signal to noise ratio is particularly high and the long-run average sampling rate may be several hundred thousand operations per second, high primary resolution levels are quite feasible.
Searching for Safe Schools

Violence in the United States has reached epidemic proportions, with a predictable spillover into public schools. The national concern over the problem of school violence has led to federal, state, and local efforts to address this issue by creating new laws and policies, which include adopting zero-tolerance approaches, conducting targeted and random searches of students and their property, using metal detectors, and preventing violence through education. In this article, we begin by examining these laws and policies.Then, we separate school district reactions to violence into three categories: tertiary, secondary, and primary prevention and describe procedures within each category. We end by proposing a framework within which school districts may develop legally correct policies and procedures to address school violence.
Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations

The aim of this study was to gain information about disease prevalence and to identify the responsible genes for inherited retinal dystrophies (IRD) in Japanese populations. Clinical and molecular evaluations were performed on 349 patients with IRD. For segregation analyses, 63 of their family members were employed. Bioinformatics data from 1,208 Japanese individuals were used as controls. Molecular diagnosis was obtained by direct sequencing in a stepwise fashion utilizing one or two panels of 15 and 27 genes for retinitis pigmentosa patients. If a specific clinical diagnosis was suspected, direct sequencing of disease-specific genes, that is, ABCA4 for Stargardt disease, was conducted. Limited availability of intrafamily information and decreasing family size hampered identifying inherited patterns. Differential disease profiles with lower prevalence of Stargardt disease from European and North American populations were obtained. We found 205 sequence variants in 159 of 349 probands with an identification rate of 45.6%. This study found 43 novel sequence variants. In silico analysis suggests that 20 of 25 novel missense variants are pathogenic. EYS mutations had the highest prevalence at 23.5%. c. 4957_4958insA and c.8868C>A were the two major EYS mutations identified in this cohort. EYS mutations are the most prevalent among Japanese patients with IRD.
A universal lattice code decoder for fading channels

We present a maximum-likelihood decoding algorithm for an arbitrary lattice code when used over an independent fading channel with perfect channel state information at the receiver. The decoder is based on a bounded distance search among the lattice points falling inside a sphere centered at the received point. By judicious choice of the decoding radius we show that this decoder can be practically used to decode lattice codes of dimension up to 32 in a fading environment.
Mediascape: A Web-Based Media Space

Mediascape provides a Web-based media space--an audio, video, and computing environment that supports distributed groups. Using Web standards and protocols it supports creating a software infrastructure that incorporates three important design principles: integrability, flexibility, and privacy. The Videoserver component handles digital video communication. This Web-based environment offers benefits to users and developers greater than traditional media spaces.
How does direct-to-consumer advertising (DTCA) affect prescribing? A survey in primary care environments with and without legal DTCA.

BACKGROUND Direct-to-consumer advertising (DTCA) of prescription drugs has increased rapidly in the United States during the last decade, yet little is known about its effects on prescribing decisions in primary care. We compared prescribing decisions in a US setting with legal DTCA and a Canadian setting where DTCA of prescription drugs is illegal, but some cross-border exposure occurs. METHODS We recruited primary care physicians working in Sacramento, California, and Vancouver, British Columbia, and their group practice partners to participate in the study. On pre- selected days, patients aged 18 years or more completed a questionnaire before seeing their physician. We asked these patients' physicians to complete a brief questionnaire immediately following the selected patient visit. By pairing individual patient and physician responses, we determined how many patients had been exposed to some form of DTCA, the frequency of patients' requests for prescriptions for advertised medicines and the frequency of prescriptions that were stimulated by the patients' requests. We measured physicians' confidence in treatment choice for each new prescription by asking them whether they would prescribe this drug to a patient with the same condition. RESULTS Seventy-eight physicians (Sacramento n = 38, Vancouver n = 40) and 1431 adult patients (Sacramento n = 683, Vancouver n = 748), or 61% of patients who consulted participating physicians on pre-set days, participated in the survey. Exposure to DTCA was higher in Sacramento, although 87.4% of Vancouver patients had seen prescription drug advertisements. Of the Sacramento patients, 7.2% requested advertised drugs as opposed to 3.3% in Vancouver (odds ratio [OR] 2.2, 95% confidence interval [CI] 1.2-4.1). Patients with higher self- reported exposure to advertising, conditions that were potentially treatable by advertised drugs, and/or greater reliance on advertising requested more advertised medicines. Physicians fulfilled most requests for DTCA drugs (for 72% of patients in Vancouver and 78% in Sacramento); this difference was not statistically significant. Patients who requested DTCA drugs were much more likely to receive 1 or more new prescriptions (for requested drugs or alternatives) than those who did not request DTCA drugs (OR 16.9, 95% CI 7.5-38.2). Physicians judged 50.0% of new prescriptions for requested DTCA drugs to be only "possible" or "unlikely" choices for other similar patients, as compared with 12.4% of new prescriptions not requested by patients (p < 0.001). INTERPRETATION Our results suggest that more advertising leads to more requests for advertised medicines, and more prescriptions. If DTCA opens a conversation between patients and physicians, that conversation is highly likely to end with a prescription, often despite physician ambivalence about treatment choice.
Mechanisms of Diastolic Dysfunction in Cardiovascular Disease Baroreflex failure increases the risk of pulmonary edema in conscious rats with normal left ventricular function

Kazuo Sakamoto, Kazuya Hosokawa, Keita Saku, Takafumi Sakamoto, Tomoyuki Tobushi, Yasuhiro Oga, Takuya Kishi, Tomomi Ide, and Kenji Sunagawa Department of Cardiovascular Medicine, Kyushu University Graduate School of Medical Sciences, Fukuoka, Japan; Department of Therapeutic Regulation of Cardiovascular Homeostasis, Center for Disruptive Cardiovascular Medicine, Kyushu University, Fukuoka, Japan; and Collaborative Research Institute of Innovative Therapeutics for Cardiovascular Diseases, Center for Disruptive Cardiovascular Medicine, Kyushu University, Fukuoka, Japan
Cognitive Demands of Semi-Natural Virtual Locomotion

There is currently no fully natural, general-purpose locomotion interface. Instead, interfaces such as gamepads or treadmills are required to explore large virtual environments (VEs). Furthermore, sensory feedback that would normally be used in real-world movement is often restricted in VR due to constraints such as reduced field of view (FOV). Accommodating these limitations with locomotion interfaces afforded by most virtual reality (VR) systems may induce cognitive demands on the user that are unrelated to the primary task to be performed in the VE. Users of VR systems often have many competing task demands, and additional cognitive demands during locomotion must compete for finite resources. Two studies were previously reported investigating the working memory demands imposed by semi-natural locomotion interfaces (Study 1) and reduced sensory feedback (Study 2). This paper expands on the previously reported results and adds discussion linking the two studies. The results indicated that locomotion with a less natural interface increases spatial working memory demands, and that locomotion with a lower FOV increases general attentional demands. These findings are discussed in terms of their practical implications for selection of locomotion interfaces when designing VEs.
Cognitive development in Dutch primary education, the impact of individual background and classroom composition

A sample of 815 Dutch pupils from 49 classes was followed from age 6 (Dutch Grade 3) through age 11 (Grade 7) to estimate growth trajectories for pupils with different socio-ethnic backgrounds. The results indicate that the disadvantage for spelling already present in Grade 3 increases more strongly for Dutch low-socioeconomic status (SES) pupils than for low-SES minority pupils. With regard to mathematics, the initial disadvantage of Dutch low-SES pupils hardly changes, whereas the gap is clearly reduced for low-SES minorities. Effects of classroom composition appear to be quite modest, but classes with very high proportions of low-SES minority pupils show a clear disadvantage for both spelling and mathematics at age 6. In subsequent grades, the spelling gap between advantaged and disadvantaged classroom populations disappears completely. For mathematics, the gap is initially reduced to some extent, but at age 11 the disadvantage increases again.
Some Determinants of Work Alienation

This study represents an attempt to examine the nature and sources of self-estrangement in work. The concept is defined using a discrepancy approach. Questionnaire data were collected from 1,313 employees representing seven occupational groups. The results suggest that individual work values interact with perceptions of the work situation to produce different levels of self-estrangement within each occupational group. Furthermore, multiple regression analysis indicates that job conditions are significantly more important than background factors for explaining feelings of self-estrangement. In particular, lack of control over task activities (powerlessness) and lack of meaningful work (meaninglessness) are found to be the most powerful predictors across all occupational groups. The implications of these findings are discussed.