Miracle-dz/UniFAR-FTUs huggingface dataset:
Association of the connexin36 gene with juvenile myoclonic epilepsy

Epilepsy is one of the most common and serious neurological disorders, with up to 60 million people affected worldwide.1 Juvenile myoclonic epilepsy (JME) is a common familial form that accounts for 5–10% of all epilepsy cases.2 This form belongs to the idiopathic epilepsy group, due to the absence of detectable structural or metabolic abnormalities. Clinically, JME is mainly characterised by isolated myoclonic jerks on awakening that usually begin during adolescence. It is also highly drug-dependent, since a 90% recurrence is reported after interruption of pharmacological treatment.3 Studies on the incidence of epilepsy in relatives of probands with JME, as well as on twins, have provided strong evidence for a genetic contribution.4,5 Autosomal dominant, autosomal recessive, two locus, monogenic, and polygenic models of inheritance have been suggested.6 So far, three genes that are mutated in different forms of JME have been identified, namely CACNB4 ,7 GABRA1 ,8 and CLCN2 . 9 In addition, two different susceptibility loci have been identified by linkage analysis. The first locus, termed EJM1 (OMIM 254770), is on the human leukocyte antigen region of chromosome 6p.10 Although no trait-causing mutation has yet been identified at this locus, association with a haplotype of the BRD2 gene has been recently reported.11 The second locus, termed EJM2 (OMIM 604827), is in the region of chromosome 15q that contains the gene coding for the α7-nicotinic acetylcholine receptor subunit. Genetic mapping of the EJM2 locus defined a 15.1 cM candidate region on chromosome 15q14, flanked by the D15S165 and D15S971 loci.6 Interestingly, this region includes the CX36 gene, which codes for the first connexin identified in neurons.12 Connexins are integral membrane proteins, encoded by a family of at least 20 genes in humans, which form the subunits of gap junction …
“None of the above” as a correct and incorrect alternative on a multiple-choice test: Implications for the testing effect

Both positive and negative testing effects have been demonstrated with a variety of materials and paradigms (Roediger & Karpicke, 2006b). The present series of experiments replicate and extend the research of Roediger and Marsh (2005) with the addition of a “none-of-the-above” response option. Participants (n=32 in both experiments) read a set of passages, took an initial multiple-choice test, completed a filler task, and then completed a final cued-recall test (Experiment 1) or multiple-choice test (Experiment 2). Questions were manipulated on the initial multiple-choice test by adding a “none-of-the-above” response alternative (choice “E”) that was incorrect (“E” Incorrect) or correct (“E” Correct). The results from both experiments demonstrated that the positive testing effect was negated when the “none-of-the-above” alternative was the correct response on the initial multiple-choice test, but was still present when the “none-of-the-above” alternative was an incorrect response.
Recent advances in plant cell wall proteomics

The plant extracellular matrix contains typical polysaccharides such as cellulose, hemicelluloses, and pectins that interact to form dense interwoven networks. Plant cell walls play crucial roles during development and constitute the first barrier of defense against invading pathogens. Cell wall proteomics has greatly contributed to the description of the protein content of a compartment specific to plants. Around 400 cell wall proteins (CWPs) of Arabidopsis, representing about one fourth of its estimated cell wall proteome, have been described. The main points to note are that: (i) the diversity of enzymes acting on polysaccharides suggests a great plasticity of cell walls; (ii) CWPs such as proteases, polysaccharide hydrolytic enzymes, and lipases may contribute to the generation of signals; (iii) proteins of unknown functions were identified, suggesting new roles for cell walls. Recently, the characterization of PTMs such as N‐ and O‐glycosylations improved our knowledge of CWP structure. The presence of many glycoside hydrolases and proteases suggests a complex regulation of CWPs involving various types of post‐translational events. The first 3‐D structures to be resolved gave clues about the interactions between CWPs, or between CWPs and polysaccharides. Future work should include: extracting and identifying CWPs still recalcitrant to proteomics, describing the cell wall interactome, improving quantification, and unraveling the roles of each of the CWPs.
Analyzing the ingredients of a telephone counseling intervention for traumatic brain injury

Abstract Purpose: To develop reliable coding for five treatment ingredients hypothesized to be “active” in a scheduled telephone intervention (STI) for traumatic brain injury (TBI); to examine factors associated with delivery of ingredients over the first year post-injury. Method: Operational definitions of directive and non-directive action planning; TBI education; reinforcement; and reframing, were refined until kappa >0.80 across multiple coders. Codes were assigned for presence/absence of ingredients in 253 recorded calls delivered to 49 participants in a randomized controlled trial on effects of STI versus usual care. Using multivariate analyses, we tested hypotheses about effects of TBI severity, time and other factors on delivery of ingredients. Results: Longitudinal analyses revealed that TBI education decreased over time, as expected. Non-directive action planning increased over time, according to hypotheses; unexpectedly, directive action planning did not concurrently decline. Reinforcement and reframing both increased over time, with reframing also increasing with TBI severity. Therapist differences were pronounced, despite extensive supervision designed to promote uniform treatment delivery. Conclusions: Reliable operational definitions of therapist behavior for each ingredient were achieved, but at the sacrifice of sensitivity in the coding scheme. Behavioral operational definitions of ingredients may be useful for treatment specification, for therapist training and supervision, and for testing hypotheses about the strength of specific components within the “black box” of rehabilitation. Implications for Rehabilitation Operationally defining active ingredients of rehabilitation can allow measurement of adherence to specified treatment protocols, and can facilitate the study of the relationship between delivery of specific ingredients and resulting outcomes. In this study, there were strong differences in delivery of ingredients by different clinicians despite frequent joint supervision and a shared treatment philosophy. Defining active ingredients in advance may help focus training and supervision on specific clinician behaviors that convey key ingredients of treatment. Complex treatments such as counseling, where the therapist’s behavior is partly determined by the client’s behavior and vice versa, are particularly challenging to define operationally since the opportunity to deliver certain ingredients varies with the problems the client presents and the way they are presented.
Dichloromethane fraction of Cimicifuga heracleifolia decreases the level of melanin synthesis by activating the ERK or AKT signaling pathway in B16F10 cells

Abstract: Cimicifuga rhizoma has long been used in traditional Korean medicine. In particular, a Cimicifuga heracleifolia extract (CHE) was reported to inhibit the formation of glutamate and the glutamate dehydrogenase activity in cultured rat islet. Glutamate activates melanogenesis by activating tyrosinase. Accordingly, it was hypothesized that a CHE might inhibit the melanogenesis‐related signal pathways including the inhibition of microphthalmia‐associated transcription factor (MITF)‐tyrosinase signaling and/or the activation of extracellular signal‐regulated kinase (ERK)‐Akt signaling. The results showed that CHE inhibits the cellular melanin contents, tyrosinase activity and expression of melanogenesis‐related proteins including MITF, tyrosinase and tyrosinase‐related protein (TRP)s in α‐melanocyte‐stimulating hormone‐stimulated B16 cells. Moreover, CHE phosphorylates MEK, ERK1/2 and Akt, which are melanogenesis inhibitory proteins. The data suggest that CHE inhibits melanogenesis signaling by both inhibiting the tyrosinase directly and activating the MEK‐ERK or Akt signal pathways‐mediated suppression of MITF and its downstream signal pathway, including tyrosinase and TRPs. Therefore, C. heracleifolia would be a useful therapeutic agent for treating hyperpigmentation and an effective component in whitening and/or lightening cosmetics.
Outdoor insulation coordination with artificial neural network

Based on the tests carried out by simulating icing conditions and low pressure in an artificial climate chamber, this paper presents a new method of outdoor insulation coordination with artificial neural network (ANN). This method employs an ANN model to map the climatic condition and the flashover voltage of an insulator. After the appropriate model is established with training and validating, it can forecast the flashover voltage of an insulator in complex ambient conditions. Then, it puts forwards that using this ANN model is helpful in studying outdoor insulation coordination and analyzing the electrical performance of insulator in complex ambient climatic conditions.
Title Bayesian Hierarchical Model of the Browsing Behavior of World Wide Web Users Permalink

We consider the case of surfing within a single large Web site, which is important from the point of view of site design, web server proxy efficiency and search engine optimal ranking of pages. The site used as an example to illustrate a method for clustering user sessions that we propose is msnbc.com. We use a random sample from a publicly available server log data on the Web pages chosen by 989818 users in a twenty-five hour period, where the response measure for each user is an ordered sequence of choices among 17 categories (UCI KDD Archive). A common way to model the browsing behavior of users is to assume that the decision of users is a random walk with a probability distribution of first passage time to a threshold that is a two-parameter inverse-gaussian distribution. Another hypothesis examined in the literature is that users at each page conduct an independent Bernoulli trial to make a stopping decision, which implies a geometric distribution. Mixtures of first-order Markov processes or model-based clustering with and without a Bayesian flavor have offered very useful exploratory data analysis. All these studies have shown evidence that web-surfing behavior may be non-Markov in nature and have illustrated how hard it is to capture dependencies in the data. The performance of the models over a wide range of Web Site formats is still inconclusive. This performance has been measured by the ability to predict page hits, by the resulting distribution of page hits, and by the contribution to efficient web caching schemes. Some models have been tested with server log data of AOL or similar Sites and others have been tested within a single Web site like msnbc.com. The levels of aggregation of pages and clustering of user behavior have also varied within studies. In this paper, we assume that for the case of browsing within a news portal like msnbc.com, where contents are continually changing, the server-log data is only meaningful when categories are aggregated, like they are for the msnbc.com data set, and the order of the browsing may not be relevant. We use a Bayesian hierarchical model of the page counts per user to obtain posterior distributions of page access frequency that allow us to cluster user sessions in a relatively small number of groups. The model has the ability to have enough parameters to fit the data well, while using a population distribution that can structure dependence in the parameters. The model can be generalized to different types of Web sites, different levels of aggregation of pages and different clustering schemes.
Numerical comparisons of two formulations of the logistic regressive models with the mixed model in segregation analysis of discrete traits

Segregation analysis of discrete traits can be conducted by the classical mixed model and the recently introduced regressive models. The mixed model assumes an underlying liability to the disease, to which a major gene, a multifactorial component, and random environment contribute independently. Affected persons have a liability exceeding a threshold. The regressive logistic models assume that the logarithm of the odds of being affected is a linear function of major genotype effects, the phenotypes of older relatives, and other covariates. A formulation of the regressive models, based on an underlying liability model, has been recently proposed. The regression coefficients on antecedents are expressed in terms of the relevant familial correlations and a one‐to‐one correspondence with the parameters of the mixed model can thus be established. Computer simulations are conducted to evaluate the fit of the two formulations of the regressive models to the mixed model on nuclear families. The two forms of the class D regressive model provide a good fit to a generated mixed model, in terms of both hypothesis testing and parameter estimation. The simpler class A regressive model, which assumes that the outcomes of children depend solely on the outcomes of parents, is not robust against a sib–sib correlation exceeding that specified by the model, emphasizing testing class A against class D. The studies reported here show that if the true state of nature is that described by the mixed model, then a regressive model will do just as well. Moreover, the regressive models, allowing for more patterns of family dependence, provide a flexible framework to understand gene–environment interactions in complex diseases. © 1992 Wiley‐Liss, Inc.
An Improved Algorithm for Reliability Optimization

This paper proposes a modification of the Aggarwal et al. algorithm for reliability optimization by introducing a new heuristic criterion for selecting the subsystem where redundancy is to be added. This criterion accounts for the relative decrement in unreliability versus the largest of the relative increments in resources. The method applies to multiple separable constraint problems (which need not be linear) and to systems which may be complex or series. The method is simple, fast, and easily programmed. The results are compared with those of the Aggarwal et al. algorithm and are better in many problems.
Effects of various ballast water treatment methods on the survival of phytoplankton and bacteria

Aquatische invasieve soorten zijn een van de grootste bedreigingen voor de biodiversiteit in de oceanen. Een van de transportroutes voor deze invasieve soorten is ballastwater. Om dit tegen te gaan heeft de Internationale Maritieme Organisatie richtlijnen geformuleerd die grenzen stellen aan de hoeveelheid organismen in ballastwater. Om aan deze richtlijnen te voldoen zijn zogenaamde ballastwater behandelingssystemen ontwikkeld door verschillende fabrikanten. Deze behandelingssystemen gebruiken verschillende methoden zoals filtratie, chloor-toevoeging of UV-licht om organismen te verwijderen of doden. In dit proefschrift werd de effectiviteit van deze behandelingsmethoden getest en ook het potentiaal van de organismen om na behandeling te hergroeien. Daarnaast werden verschillende analysemethoden getest om de hergroeiende organismen te identificeren. Alle ballastwater behandelingssystemen die getest werden reduceerden organisme aantallen tot onder de internationale standaarden, maar bij alle behandelingssystemen vond ook hergroei plaats na behandeling. Met een combinatie van flow-cytometrie, mikroskopie en DGGE/sequencing werden de hergroeiende soorten geidentificeerd. De hergroeiende organismen waren vergelijkbaar bij behandelingssystemen die hetzelfde type behandeling gebruikten, maar verschillend voor behandelingssystemen die verschillende typen behandeling gebruikten. hergroei vond vooral plaats bij organismen <10 µm, dit formaat organismen is geen deel van de internationale ballastwater richtlijnen. Dit betekent dat er een omissie is in de internationale richtlijnen wat gecorrigeerd zou moeten worden.
Nitrogen Isotope Analysis of Ammonium and Glycine Method Development for Aqueous Solutions and Soil Extracts

Norlin, E. , 2005. Nitrogen Isotope Analysis of Ammonium and Glycine. Method Development for Aqueous Solutions and Soil Extracts. Doctor s dissertation. ISSN 1652-6880, ISBN 91-576-6983-X Stable isotope techniques can be used as a tool in nitrogen cycling studies of different ecosystems. The studies are based on measurement of the heavy (N)tolight (N) isotopic ratios of nitrogen in different biospheric pools. Isotope ratio mass spectrometry (IRMS) is the most precise technique to use for analysis of nitrogen isotopic ratios. This thesis deals with the development of methods for compound-specific nitrogen isotope analysis of ammonium and glycine in aqueous solutions and soil extracts using Gas Chromatography Combustion (GC-C) IRMS. For ammonium, three different techniques were developed: equilibrium headspace analysis, solid phase microextraction (SPME) and the purge and trap (P & T) technique, which were all based on conversion of ammonium to ammonia with subsequent separation of ammonia for analysis. In the SPME and P & T approaches, custom-made absorbents were used for pre-concentration, followed by thermal desorption into the GC-C-IRMS system. For the equilibrium headspace technique, high precision measurements of the nitrogen isotopic ratio were obtained for concentrations above 420 mg N L. With further improvements and the use of suitable equipment, the method has the potential to be used for solutions containing ammonium in the low mg N L range. The SPME technique increased the sensitivity by a factor of ≈ 3 compared to the headspace technique, but was less precise. In addition, the Nafion material used for absorption showed a memory effect in the desorption step. With the P & T technique a large variation in the measured isotopic value was observed (using solutions containing 2 mg N L) which was due to a non-quantitative thermal desorption. However, with further improvements, the P & T technique has the potential to be used for samples containing below 1.0 μg N, which is a much lower amount than that possible with any method used today. A method for determination of the nitrogen isotopic ratio in free glycine in soil extracts was also developed. By a combination of sample pre-concentration and Isotope Dilution Mass Spectrometry (IDMS), it was possible to determine isotopic ratio in soil extracts with a glycine concentration of only 3 μM (0.042 mg N L). The precision obtained was sufficient for use with tracer studies and was higher by an order of magnitude than the precision obtained with conventional GC-MS.
Los estudios de género de los hombres y las masculinidades: ¿qué son y qué estudian?

En este articulo se presenta una vision comprensiva de los estudios de genero de los varones y las masculinidades a partir de dos reflexiones relacionadas: a) el vinculo con el feminismo y los estudios LGBTTI, y b) el objeto de estudio. La propuesta se realiza desde la epistemologia constructivista realista y desde el planteo teorico posestructuralista. Se plantea que estos estudios son un subcampo de los estudios de genero y que su objeto no son ni los hombres, ni las masculinidades por si solos, sino los procesos socioculturales y de poder (androcentrico y/o heterosexista), de inscripcion/resistencia/transformacion del genero en los cuerpos/subjetividades de los humanos machos y/o socialmente “hombres”, y en el tejido social todo.
Assessment of pressure-pain thresholds and central sensitization of pain in lateral epicondylalgia.

OBJECTIVE. : To assess pain sensitivity and spreading hyperalgesia in lateral epicondylalgia (LE). SUBJECTS. : Twenty-two women with LE, and 38 controls were included. OUTCOME MEASURES. : Computerized cuff pressure algometry was used for assessment of pressure-pain threshold and tolerance. The stimulus was applied using a single (stimulation-area: 241 cm(2) ) or double-chambered (stimulation-area: 482 cm(2) ) tourniquet on the arm and leg. Spatial summation was expressed as the ratio between pressure-pain thresholds to single and double cuff-chamber stimulation. During 10-minute constant pressure stimulation at intensity relative to the individual pain threshold, the pain intensity was continuously recorded using an electronic visual analogue scale (VAS), and from this the degree of temporal summation was estimated. For LE, a Doppler ultrasound examination of the elbow was made to identify inflammation. RESULTS. : In LE compared with controls the pressure-pain threshold and tolerance were on average reduced by respectively 31% (nonsignificant) and 18% (nonsignificant) on the lower arm and by 32% (P < 0.05) and 22% (P < 0.05) on the lower leg (spreading sensitization). Within the LE group, pressure-pain thresholds were on average reduced by 20% (P < 0.05) and pain tolerance by 10% (nonsignificant) on the painful compared with the asymptomatic side. Spatial summation (P < 0.01) and temporal summation (P < 0.05) was facilitated in LE compared with controls. In LE patients without signs of peripheral inflammation assessed by Doppler ultrasound, temporal summation was significantly stronger than in patients with ongoing inflammation (P < 0.01). CONCLUSION. : Patients with LE may be subgrouped based on pain hypersensitivity and Doppler ultrasound into clinically meaningful subgroups with varying duration of symptoms and different degrees of central sensitization. These groups may require different pain management strategies.
Reducing Cogging Torque in Surface-Mounted Permanent-Magnet Motors by Nonuniformly Distributed Teeth Method

This paper proposed a novel method for reducing cogging torque in surface-mounted permanent-magnet (PM) motors with nonuniformly distributed teeth. In this method, the width of one tooth tip is different from that of the others while all slot openings are the same. By suitable selection of the teeth width ratio, i.e., the width ratio of the one tooth tip to others, the cogging torque can be greatly reduced. First, the analytical expression of cogging torque was deduced and used to analyze the cogging torque qualitatively. Based on the above, analytical method was proposed to determine the teeth width ratio. To determine the teeth width ratio accurately, numerical method was proposed. Calculation of cogging torque by finite element method (FEM) shows that cogging torque can be greatly reduced by teeth width ratio determined by analytical method, and the teeth width ratio determined by numerical method can reduce the cogging torque further, which proved the effectiveness of the proposed methods. At last, the influences of the stator asymmetry resulted by this method on PM motors were discussed.