Miracle-dz/UniFAR-FTUs huggingface dataset:
Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients

Objective To examine rare KCNJ18 variations recently reported to cause sporadic and thyrotoxic hypokalaemic periodic paralysis (TPP). Methods We sequenced KCNJ18 in 474 controls (400 Caucasians, 74 male Asians) and 263 unrelated patients with periodic paralysis (PP), including 30 patients with TPP without mutations in established PP genes. Results In 10 patients without TPP, we identified 9 heterozygous, novel variations (c.–3G>A, L15S, R81C, E273X, T309I, I340T, N365S, G394R, R401W) and a questionable heterozygous causative R399X stop variant. Studies on 40 relatives of these 10 patients showed that none of the variants were de novo in the patients and that R399X occurred in 3 non-affected relatives. Most affected amino acids lacked conservation and several clinically affected relatives did not carry the patient’s variant. T309I, however, could be pathogenic under the pre-requisite of strongly reduced penetrance in females. Of the controls, 17 revealed 12 novel rare variants including the heterozygous E273X stop variant in three individuals. Conclusions Our study shows many different, rare KCNJ18 alterations in patients as well as controls. Only perhaps one meets the requirements of a disease-causing mutation. Therefore, KCNJ18 alterations are seldom pathogenic. Additional studies are required before patients with PP can be genetically diagnosed on the basis of a KCNJ18 variant alone.
FROM A DIFFERENT VANTAGE: INTERGROUP ATTITUDES AMONG CHILDREN FROM LOW- AND INTERMEDIATE-STATUS RACIAL GROUPS

Social groups are often described as hierarchically ordered in terms of social status. Intergroup research has generally focused on the relationship between the highest-status group and a single lower-status group, leaving relationships among nondominant groups relatively unexplored. Focusing on low-status Black and intermediate-status Coloured (multiracial) South African elementary school-children, we examined the attitudes members of these two groups hold toward one another and toward a range of other locally salient groups, as well as their wealth-related stereotypes and preferences. Results indicated that both Coloured and Black children implicitly preferred Coloured over Black, and also strongly associated Coloured (vs. Black) with wealth, suggesting a powerful tendency to internalize the status quo. However, Black children exhibited stronger preferences for other social groups, as well as stronger preferences for wealth in general, possibly as a means of compensating for their devalued status in the.
How IELTS preparation courses support students: IELTS and academic socialisation

IELTS scores are widely used in combination with academic results as a way of judging whether non-English background students should be admitted to degree-level courses in Anglophone contexts. However, successful study at university requires more than language competence and intellectual ability and international students often seem to start from a different place from similarly qualified local students. This study investigated how an IELTS preparation course helped Chinese students taking an Economics A-level course to achieve a similar level of academic socialisation to local students. The participants were six students on the programme, their Economics teacher and their English teacher. The data sets were field notes of the Economics and IELTS classes, interviews with the students and teachers, teaching materials and students’ writing. We found that the IELTS classes helped expand the students’ vocabulary and developed their confidence in speaking. Other features of the courses such as the use of local accents, colloquial language, the ability to use sources, extensive reading and, more generally, independent study were less obviously addressed. Despite these gaps, the students completed their pre-university and university studies successfully, at least partly because of three factors unrelated to the IELTS course: (1) interaction with a range of groups that supported academic socialisation, (2) the Economics teacher’s attitude to the students’ participation and (3) the students’ resources, which meant they were aware of what was needed for academic success, had a desire to succeed and had, or could develop, the appropriate skills for appropriate academic socialisation.
The Mental Health of Multiethnic Lesbian and Bisexual Adolescent Females: The Role of Self-Efficacy, Stress and Behavioral Risks

Multiethnic lesbian and bisexual adolescent females (MLBAF) are vulnerable to health and mental health risks, such as depression, suicide, self-harm, family and school concerns, and stress resulting from a “triple jeopardy” of marginalization, yet these risks remain virtually unstudied. Based on minority stress theory, this pilot study found that for a sample of MLBAF (n = 116), the odds of self-reported poor mental health were more than five times higher for each unit increase in stress and almost seven times higher for sexual abuse. The presence of youth substance abuse academic problems and younger age made a significant contribution to poor self-reported mental health while high self-efficacy scores resulted in significantly fewer mental health concerns. Implications for practice are discussed.
A dual band-notched UWB monopole antenna with C-shaped slot and hairpin slot

This paper presents a design of dual band-notched monopole antenna for ultra-wideband applications. The antenna consists of a disc-like radiator and is fed by a microstrip line. By using C- shaped slot and hairpin slot, the dual rejected band characteristics are successfully obtained. A practical example for a UWB antenna (from 2.90 to 12 GHz) is demonstrated, with two notched frequency bands at 3.5 GHz and other at 5.5 GHz. Simulation and measurement results show that the antenna impedance bandwidth covers the frequency range of 3.1 to 10.6 GHz, which meets the requirements of UWB application well. Moreover, the proposed antenna has almost omnidirectional radiation pattern.
The smallest singular value of a random rectangular matrix

We prove an optimal estimate on the smallest singular value of a random subgaussian matrix, valid for all fixed dimensions. For an N by n matrix A with independent and identically distributed subgaussian entries, the smallest singular value of A is at least of the order \sqrt{N} - \sqrt{n-1} with high probability. A sharp estimate on the probability is also obtained.
Software Defined Traffic Measurement with OpenSketch

Most network management tasks in software-defined networks (SDN) involve two stages: measurement and control. While many efforts have been focused on network control APIs for SDN, little attention goes into measurement. The key challenge of designing a new measurement API is to strike a careful balance between generality (supporting a wide variety of measurement tasks) and efficiency (enabling high link speed and low cost). We propose a software defined traffic measurement architecture OpenSketch, which separates the measurement data plane from the control plane. In the data plane, OpenSketch provides a simple three-stage pipeline (hashing, filtering, and counting), which can be implemented with commodity switch components and support many measurement tasks. In the control plane, OpenSketch provides a measurement library that automatically configures the pipeline and allocates resources for different measurement tasks. Our evaluations of real-world packet traces, our prototype on NetFPGA, and the implementation of five measurement tasks on top of OpenSketch, demonstrate that OpenSketch is general, efficient and easily programmable.
Origin and fate of particulate and dissolved organic matter in a naturally iron-fertilized region of the Southern Ocean

Abstract. Natural iron fertilization of high-nutrient low-chlorophyll (HNLC) waters induces annually occurring spring phytoplankton blooms off the Kerguelen Islands (Southern Ocean). To examine the origin and fate of particulate and dissolved organic matter (POM and DOM), D- and L-amino acids (AA) were quantified at bloom and HNLC stations. Total hydrolyzable AA accounted for 21–25% of surface particulate organic carbon (%POCAA) at the bloom sites, but for 10% at the HNLC site. A marked decrease in %POCAA with depth was observed at the most productive stations leading to values between 3 and 5% below 300 m depth. AA contributed to only 0.9–4.4% of dissolved organic carbon (%DOCAA) at all stations. The only consistent vertical trend was observed at the most productive station (A3-2) where %DOCAA decreased from ~ 2% in the surface waters to 0.9% near 300 m. These AA yields revealed that POM and DOM were more rapidly altered or mineralized at the bloom sites compared to the HNLC site. Alteration state was also assessed by trends in C / N ratio, %D-AA and degradation index. Different molecular markers indicated that POM mostly originated from diatoms and bacteria. The estimated average proportion of POM from intact phytoplankton cells in surface waters was 45% at the bloom station A3-2, but 14% at the HNLC site. Estimates based on D-AA yields indicated that ~ 15% of POM and ~ 30% of DOM was of bacterial origin (cells and cell fragments) at all stations. Surprisingly, the DOM in HNLC waters appeared less altered than the DOM from the bloom, had slightly higher dissolved AA concentrations, and showed no sign of alteration within the water column. Unfavorable conditions for bacterial degradation in HNLC regions can explain these findings. In contrast, large inputs of labile organic molecules and iron likely stimulate the degradation of organic matter (priming effect) and the production of more recalcitrant DOM (microbial carbon pump) during iron-fertilized blooms.
Dissociation between intracellular Ca2+ and modulation of [3H]noradrenaline release in chick sympathetic neurons.

1. We studied the relation between cyclic AMP, intracellular Ca2+ concentration and release of [3H]noradrenaline ([3H]NA) in sympathetic neurons cultured from chick embryos. 2. Forskolin (10 microM) and vasoactive intestinal polypeptide (VIP, 3 microM) increased cellular levels of cyclic AMP 8‐ and 3‐fold, respectively, either in the absence or presence of electrical stimulation. Electrical stimulation (1 Hz for 10 s) alone had no effect on cyclic AMP levels. 3. Electrically evoked (1 Hz for 10 s) release of [3H]NA was facilitated by 10 microM‐forskolin, 3 microM‐VIP and by the non‐hydrolysable cyclic AMP analogue, 8‐bromoadenosine 3': 5'‐cyclic monophosphate (8‐Br‐cyclic AMP). The inactive analogue of forskolin, dideoxyforskolin, had no effect on [3H]NA release. 4. The stimulation‐evoked release of [3H]NA was completely inhibited by the neuronal blocking drugs guanethidine (1 microM) and bretylium (3 microM). 5. Whole‐cell voltage‐clamp studies showed that forskolin and VIP did not facilitate and guanethidine and bretylium did not block voltage‐activated Ca2+ currents in the cell bodies of sympathetic neurons. 6. Fluorescence measurements using the Ca(2+)‐sensitive dye Indo‐1 revealed that forskolin and guanethidine had no effect on the electrically stimulated increase in intracellular Ca2+ concentration recorded from the cell bodies and the growth cones. 7. We conclude that release of [3H]NA can be enhanced or blocked without affecting the increase in intracellular Ca2+ concentration produced by electrical stimulation. Therefore, it is possible that pharmacological agents enhance or depress the release of [3H]NA by acting on steps of exocytosis that are down‐stream from Ca2+ mobilization.
Workshop on prototyping to support the interaction designing in mobile application development (PID-MAD 2013)

Recent changes in the mobile environment; such as the addition of multi-touch gestures, usage of sensors, or single-focused mobile apps; brought several challenges for interaction designers in communicating their ideas and thoughts enduring early design activities. Traditional prototyping techniques may not provide sufficient support due to the lack of current mobile interaction paradigms in them. Therefore, a shift is required in prototyping techniques and approaches in order to support properly the interaction design process of mobile application development for the current mobile environment. Targeting these concerns, the workshop envisions that the research must address the need for a change in existing prototyping techniques as well as focusing on novel prototyping approaches and frameworks that would support not only the interaction design process but the whole development process of mobile application development.
Light-cone sum rules for the Nγ ∆ transitions for real photons

We examine the radiative ∆ → γN transition at the real photon point Q 2 = 0 using the framework of light-cone QCD sum rules. In particular, the sum rules for the transition form factors G M (0) and R EM are determined up to twist 4. The result for G M (0) agrees with experiment within 10% accuracy. The agreement for R EM is also reasonable. In addition, we derive new light-cone sum rules for the magnetic moments of nucleons, with a complete account of twist-4 corrections based on a recent reanalysis of photon distribution amplitudes.
Network-resource isolation for virtualization nodes

Two methods for NRI for virtualization networks are proposed in this paper: per-slice shaping and per-link policing. The former enables NRI with 80-90% less queues compared to the per-link shaping. The latter enables less strict isolation between tens or hundreds of slices using only one queue. Evaluations of these methods show that the former performs slightly better in terms of delay and packet-drop ratio. Accordingly, the former with/without policing is effective for delay-sensitive services while the latter may be sufficiently used for the other types of services.
Do Stomata Respond to CO(2) Concentrations Other than Intercellular?

Most studies on stomatal responses to CO(2) assume that guard cells respond only to intercellular CO(2) concentration and are insensitive to the CO(2) concentrations in the pore and outside the leaf. If stomata are sensitive to the CO(2) concentration at the surface of the leaf or in the stomatal pore, the stomatal response to intercellular CO(2) concentration will be incorrect for a ;normally' operating leaf (where ambient CO(2) concentration is a constant). In this study asymmetric CO(2) concentrations for the two surfaces of amphistomatous leaves were used to vary intercellular and leaf surface CO(2) concentrations independently in Xanthium strumarium L. and Helianthus annuus L. The response of stomata to intercellular CO(2) concentration when the concentration at the leaf surface was held constant was found to be the same as the response when the surface concentration was varied. In addition, stomata did not respond to changes in leaf surface CO(2) concentration when the intercellular concentration for that surface was held constant. It is concluded that stomata respond to intercellular CO(2) concentration and are insensitive to the CO(2) concentration at the surface of the leaf and in the stomatal pore.
A survey study on the associations between misperceptions on substance use by peers and health and academic outcomes in university students in North-West Europe

Abstract Introduction: The basis of Social Norms Theory is that behavior is influenced by the perception of peer behavior. This implies that an overestimation (misperception) of substance use by peers would lead to an increase in personal substance use. It is hypothesized that the misperception of substance use by peers is negatively associated with health and academic performance, and that this association can be explained by an increase in personal substance use. The aim of this study is to investigate the associations of misperception of consumption of tobacco, alcohol, and recreational drugs with health and academic performance, and to test whether or not this association could be explained by substance use in a sample of university students. Methods: Data of 6403 university students in five European countries were gathered through a questionnaire about substance use by themselves and by peers, physical and mental health, and academic functioning. Misperception is defined as an overestimation of the estimated prevalence of substance use among students. Multivariate models are built with misperception regarding tobacco, alcohol and recreational drugs, and personal use of substances as independent variables, and health and academic performance as dependent variables. Results: Misperception is significantly associated with health and academic functioning. This association could not be explained by personal substance use. Conclusions: This study subscribes to an earlier work on the importance of social norms, which indicates a negative influence of misperceptions on health and academic outcomes.
Craniopharyngiomas express embryonic stem cell markers (SOX2, OCT4, KLF4, and SOX9) as pituitary stem cells but do not coexpress RET/GFRA3 receptors.

CONTEXT Adult stem cells maintain some markers expressed by embryonic stem cells and express other specific markers depending on the organ where they reside. Recently, stem/progenitor cells in the rodent and human pituitary have been characterized as expressing GFRA2/RET, PROP1, and stem cell markers such as SOX2 and OCT4 (GPS cells). OBJECTIVE Our objective was to detect other specific markers of the pituitary stem cells and to investigate whether craniopharyngiomas (CRF), a tumor potentially derived from Rathke's pouch remnants, express similar markers as normal pituitary stem cells. DESIGN We conducted mRNA and Western blot studies in pituitary extracts, and immunohistochemistry and immunofluorescence on sections from normal rat and human pituitaries and 20 CRF (18 adamantinomatous and two papillary). RESULTS Normal pituitary GPS stem cells localized in the marginal zone (MZ) express three key embryonic stem cell markers, SOX2, OCT4, and KLF4, in addition to SOX9 and PROP1 and β-catenin overexpression. They express the RET receptor and its GFRA2 coreceptor but also express the coreceptor GFRA3 that could be detected in the MZ of paraffin pituitary sections. CRF maintain the expression of SOX2, OCT4, KLF4, SOX9, and β-catenin. However, RET and GFRA3 expression was altered in CRF. In 25% (five of 20), both RET and GFRA3 were detected but not colocalized in the same cells. The other 75% (15 of 20) lose the expression of RET, GFRA3, or both proteins simultaneously. CONCLUSIONS Human pituitary adult stem/progenitor cells (GPS) located in the MZ are characterized by expression of embryonic stem cell markers SOX2, OCT4, and KLF4 plus the specific pituitary embryonic factor PROP1 and the RET system. Redundancy in RET coreceptor expression (GFRA2 and GFRA3) suggest an important systematic function in their physiological behavior. CRF share the stem cell markers suggesting a common origin with GPS. However, the lack of expression of the RET/GFRA system could be related to the cell mislocation and deregulated growth of CRF.
Methamphetamine‐induced changes in the mice hippocampal neuropeptide Y system: implications for memory impairment

Methamphetamine (METH) is a psychostimulant drug that causes irreversible brain damage leading to several neurological and psychiatric abnormalities, including cognitive deficits. Neuropeptide Y (NPY) is abundant in the mammalian central nervous system (CNS) and has several important functions, being involved in learning and memory processing. It has been demonstrated that METH induces significant alteration in mice striatal NPY, Y1 and Y2 receptor mRNA levels. However, the impact of this drug on the hippocampal NPY system and its consequences remain unknown. Thus, in this study, we investigated the effect of METH intoxication on mouse hippocampal NPY levels, NPY receptors function, and memory performance. Results show that METH increased NPY, Y2 and Y5 receptor mRNA levels, as well as total NPY binding accounted by opposite up‐ and down‐regulation of Y2 and Y1 functional binding, respectively. Moreover, METH‐induced impairment in memory performance and AKT/mammalian target of rapamycin pathway were both prevented by the Y2 receptor antagonist, BIIE0246. These findings demonstrate that METH interferes with the hippocampal NPY system, which seems to be associated with memory failure. Overall, we concluded that Y2 receptors are involved in memory deficits induced by METH intoxication.
A Study on Glyph-based Visualisation with Dense Visual Context

In a focus+context visualization, one often finds it difficult to overlay focus information on top of a dense visual context. This work is motivated by a need for visualizing search results (i.e., focus) in relation to a treemap representation of a large file system (i.e., context). We thus consider that the focus consists of a collection of visual objects discretely-distributed over a background featuring dense context information. The conventional approach for showing such objects in focus is to use colored dots, which can encode limited information and may be difficult to discern from the context background. In this paper, we report a study on three alternative approaches, namely (a) cyclically-animated dot, (b) static glyph and (c) cyclically-animated glyph. We conducted a focus group study for qualitative evaluation and found that cyclically-animated dots and static glyphs are the preferred alternatives. While fine tuning cyclic animation is feasible, cyclically-animated glyphs do not offer an attractive solution in
The relationship between object manipulation and language development in Broca's area: A connectionist simulation of Greenfield's hypothesis

In her Behavioral and Brain Sciences target article, Greenfield (1991) proposed that early in a child's development Broca's area may serve the dual function of coordinating object assembly and organizing the production of structured utterances. As development progresses, the upper and lower regions of Broca's area become increasingly specialized for motor coordination and speech, respectively. This commentary presents a connectionist simulation of aspects of this proposal. The results of the simulation confirm the main thrust of Greenfield's argument and suggest that an important impetus for the developmental differentiation in Broca's area may be the increasing complexity of the computational demands made upon it.
Heritable circadian period length in a wild bird population

Timing is essential, but circadian clocks, which play a crucial role in timekeeping, are almost unaddressed in evolutionary ecology. A key property of circadian clocks is their free-running period length (τ), i.e. the time taken for a full cycle under constant conditions. Under laboratory conditions, concordance of τ with the ambient light–dark cycle confers major fitness benefits, but little is known about period length and its implications in natural populations. We therefore studied natural variation of circadian traits in a songbird, the great tit (Parus major), by recording locomotor activity of 98 hand-raised, wild-derived individuals. We found, unexpectedly, that the free-running period of this diurnal species was significantly shorter than 24 h in constant dim light. We furthermore demonstrate, to our knowledge for the first time in a wild vertebrate, ample genetic variation and high heritability (h2 = 0.86 ± 0.24), implying that period length is potentially malleable by micro-evolutionary change. The observed, short period length may be a consequence of sexual selection, as offspring from extra-pair matings had significantly shorter free-running periods than their half-siblings from within-pair matings. These findings position circadian clocks in the ‘real world’ and underscore the value of using chronobiological approaches in evolutionary ecology. Evolutionary ecologists study variation and its fitness consequences, but often have difficulties relating behavioural variation to physiological mechanisms. The findings presented here open the possibility that properties of internal, circadian clocks affect performance in traits that are relevant to fitness and sexual selection.