Miracle-dz/UniFAR-FTUs huggingface dataset:
A Human Severe Combined Immunodeficiency (SCID) Condition with Increased Sensitivity to Ionizing Radiations and Impaired V(D)J Rearrangements Defines a New DNA Recombination/Repair Deficiency

The products of recombination activating gene (RAG)1 and RAG2 initiate the lymphoid-specific phase of the V(D)J recombination by creating a DNA double-strand break (dsb), leaving hairpin-sealed coding ends. The next step uses the general DNA repair machinery of the cells to resolve this dsb. Several genes involved in both V(D)J recombination and DNA repair have been identified through the analysis of in vitro mutants (Chinese hamster ovary cells) and in vivo situations of murine and equine severe combined immunodeficiency (scid). These studies lead to the description of the Ku–DNA-dependent protein kinase complex and the XRCC4 factor. A human SCID condition is characterized by an absence of B and T lymphocytes. One subset of these patients also demonstrates an increased sensitivity to the ionizing radiation of their fibroblasts and bone marrow precursor cells. This phenotype is accompanied by a profound defect in V(D)J recombination with a lack of coding joint formation, whereas signal joints are normal. Functional and genetic analyses distinguish these patients from the other recombination/repair mutants, and thus define a new group of mutants whose affected gene(s) is involved in sensitivity to ionizing radiation and V(D)J recombination.
Modulation by K+ channels of action potential‐evoked intracellular Ca2+ concentration rises in rat cerebellar basket cell axons

1 Action potential‐evoked [Ca2+]i rises in basket cell axons of rat cerebellar slices were studied using two‐photon laser scanning microscopy and whole‐cell recording, to identify the K+ channels controlling the shape of the axonal action potential. 2 Whole‐cell recordings of Purkinje cell IPSCs were used to screen K+ channel subtypes which could contribute to axonal repolarization. α‐Dendrotoxin, 4‐aminopyridine, charybdotoxin and tetraethylammonium chloride increased IPSC rate and/or amplitude, whereas iberiotoxin and apamin failed to affect the IPSCs. 3 The effects of those K+ channel blockers that enhanced transmitter release on the [Ca2+]i rises elicited in basket cell axons by action potentials fell into three groups: 4‐aminopyridine strongly increased action potential‐evoked [Ca2+]i; tetraethylammonium and charybdotoxin were ineffective alone but augmented the effects of 4‐aminopyridine; α‐dendrotoxin had no effect. 4 We conclude that cerebellar basket cells contain at least three pharmacologically distinct K+ channels, which regulate transmitter release through different mechanisms. 4‐Aminopyridine‐sensitive, α‐dendrotoxin‐insensitive K+ channels are mainly responsible for repolarization in basket cell presynaptic terminals. K+ channels blocked by charybdotoxin and tetraethylammonium have a minor role in repolarization. α‐Dendrotoxin‐sensitive channels are not involved in shaping the axonal action potential waveform. The two last types of channels must therefore exert control of synaptic activity through a pathway unrelated to axonal action potential broadening.
Autocrine abscisic acid plays a key role in quartz‐induced macrophage activation

Inhalation of quartz induces silicosis, a lung disease where alveolar macrophages release inflammatory mediators, including prostaglandin‐E2 (PGE2) and tumor necrosis factor α (TNF‐a). Here we report the pivotal role of abscisic acid (ABA), a recently discovered human inflammatory hormone, in silica‐induced activation of murine RAW264.7 macrophages and of rat alveolar macrophages (AMs). Stimulation of both RAW264.7 cells and AMs with quartz induced a significant increase of ABA release (5‐ and 10‐fold, respectively), compared to untreated cells. In RAW264.7 cells, autocrine ABA released after quartz stimulation sequentially activates the plasma membrane receptor LANCL2 and NADPH oxidase, generating a Ca2+ influx resulting in NFκ B nuclear translocation and PGE2 and TNF‐α release (3‐, 2‐, and 3.5‐fold increase, respectively, compared to control, unstimulated cells). Quartz‐stimulated RAW264.7 cells silenced for LANCL2 or preincubated with a monoclonal antibody against ABA show an almost complete inhibition of NFκ B nuclear translocation and PGE2 and TNF‐α release compared to controls electroporated with a scramble oligonucleotide or preincubated with an unrelated antibody. AMs showed similar early and late ABA‐induced responses as RAW264.7 cells. These findings identify ABA and LANCL2 as key mediators in quartz‐induced inflammation, providing possible new targets for antisilicotic therapy. —Magnone, M. , Sturla, L. , Jacchetti, E. , Scarfì, S. , Bruzzone, S. , Usai, C. , Guida, L. , Salis, A. , Damonte, G. , De Flora, A. , Zocchi, E. Autocrine abscisic acid plays a key role in quartz‐induced macrophage activation. FASEB J. 26, 1261‐1271 (2012). www.fasebj. org
Speech prosody in musical notation: Spanish, Portuguese and English

This study uses musical notation to describe speech prosody in connected speech in Brazilian Portuguese and Mexican Spanish, using English as a comparison where needed. Through this research we establish the basis on which to expand our future work on speech prosody, from methodology to data collection and analyses, and then make initial observations regarding potentially significant prosodic patterns. This study shows that musical notation can inform us about: 1) the pitch ranges of the speakers in connected speech; 2) speech rate; 3) patterns of moraic and non-moraic syllables; 4) syllable timing; 5) intonation patterns, especially speakers’ tessitura. The methodology that we have developed in this exploratory study may help solve unpredictable patterns of speech prosody, especially in regards to intonation, and consequently lead to the improvement of current speech prosody models.
Out‐patient cataract surgery: First experiences from a large hospital department

Abstract Out‐patient cataract surgery was recently introduced as a routine procedure in our department. Background population, selection criteria and practical‐administrative procedures for the first 33 patients are described. 19 females and 14 males, age range 45 to 90 years, were offered ambulatory surgery; 19 had extracapsular surgery and 27 intraocular lenses. Insignificant complications occurred in four cases, one of them related to the out‐patient procedure. It definitely seems possible to offer this modality to selected patients without compromising medical ethics, and the results have been met with unanimous satisfaction by the patients.
An adaptive nonlinear prefilter for compensation of distortion in nonlinear systems

This article concerns the linearization of a nonlinear system by connecting a nonlinear Volterra prefilter tandemly with the nonlinear system and by adaptively adjusting the coefficients of the prefilter. "A nonlinear filtered-x LMS algorithm" for updating the coefficients of a nonlinear prefilter, as proposed, is shown to be viewed as an extension of the well-known filtered-x LMS algorithm.
Fluid mechanics of electroosmotic flow and its effect on band broadening in capillary electrophoresis

Electroosmotic flow (EOF) usually accompanies electrophoretic migration of charged species in capillary electrophoresis unless special precautions are taken to supress it. The presence of the EOF provides certain advantages in separations. It is an alternative to mechanical pumps, which are inefficient and difficult to build at small scales, for transporting reagents and analytes on microfluidic chips. The downside is that any imperfection that distorts the EOF profile reduces the separation efficiency. In this paper, the basic facts about EOF are reviewed from the perspective of fluid mechanics and its effect on separations in free solution capillary zone electrophoresis is discussed in the light of recent advances.
New insights of altered lipid profile in Fragile X Syndrome

Background Fragile X Syndrome (FXS) is the main genetic cause of autism and intellectual deficiency resulting the absence of the Fragile X Mental Retardation Protein (FMRP). Clinical picture is characterized by cognitive impairment associated with a broad spectrum of psychiatric comorbidities including autism spectrum disorders and attention-deficit/hyperactivity disorders. Some of these disorders have been associated with lipid abnormalities and lower cholesterol levels. Since lipids are important for neuronal development, we aim to investigate the lipid profile of French Canadian-FXS individuals and to identify the altered components of cholesterol metabolism as well as their association with clinical profile. Methods Anthropometric data were collected from 25 FXS individuals and 26 controls. Lipid assessment included: total cholesterol (TC), triglycerides, LDL, HDL, ApoB, ApoA1, PCSK9, Lp(a) and lipoprotein electrophoresis. Aberrant and adaptive behaviour of affected individuals was respectively assessed by the ABC-C and ABAS questionnaires. Results FXS participants had a higher body mass index as compared to controls while 38% of them had TC<10th percentile. Lower levels of LDL, HDL and apoA1 were observed in FXS group as compared to controls. However, PCSK9 levels did not differ between the two groups. As expected, PCSK9 levels correlated with total cholesterol (rs = 0.61, p = 0.001) and LDL (rs = 0.46, p = 0.014) in the control group, while no association was present in the FXS group. An inverse relationship was observed between total cholesterol and aberrant behaviour as determined by ABC-C total score. Conclusion Our results showed the presence of hypocholesterolemia in French Canadian-FXS population, a condition that seems to influence their clinical phenotype. We identified for the first time a potential underlying alteration of PCSK9 function in FXS that could result from the absence of FMRP. Further investigations are warranted to better understand the association between cholesterol metabolism, PCSK9, FMRP and clinical profile.
Lamivudine therapy for spontaneously occurring severe acute exacerbation in chronic hepatitis B virus infection: a preliminary study

OBJECTIVE:The nucleoside analogue lamivudine, a potent inhibitor of hepatitis B virus replication, has shown notable results in treating chronic hepatitis B. However, lamivudine has not been specifically tested for effectiveness against spontaneously occurring severe acute exacerbations of hepatitis in patients chronically infected with this virus. We addressed this issue in a pilot study.METHODS:Ten patients with chronic hepatitis B developed severe acute exacerbation spontaneously during follow-up; 3 of them developed hepatic failure shortly before entering the trial. Lamivudine was administered long-term to the 10 patients at a daily oral dose of 100 or 300 mg.RESULTS:All 3 patients with hepatic failure at initiation of treatment recovered dramatically. Of the remaining 7 patients, 5 recovered rapidly with lamivudine, but 2 progressed quickly to hepatic failure despite treatment. One died of sepsis and the other of multiorgan failure. In the 8 survivors, serum alanine transaminase activity decreased rapidly to normal with lamivudine therapy, and serum hepatitis B virus DNA level declined rapidly to undetectable levels. Serum total bilirubin concentrations normalized somewhat later. Prothrombin time improved steadily and gradually. Hepatitis B e antigen elimination or seroconversion was achieved in 3 survivors. No adverse effects were noted in any patient. All survivors had good quality of life with long-term lamivudine monotherapy.CONCLUSIONS:Lamivudine is effective, safe, and well tolerated by patients with spontaneous, severe, acute exacerbation complicating chronic hepatitis B virus infection, even in the presence of hepatic failure. Lamivudine appears to be an attractive therapeutic option and may represent the best choice.
Customer Engagement

In today’s highly dynamic and interactive business environment, the role of “customer engagement” (CE) in cocreating customer experience and value is receiving increasing attention from business practitioners and academics alike. Despite this interest, systematic scholarly inquiry into the concept and its conceptual distinctiveness from other, associated relational concepts has been limited to date. This article explores the theoretical foundations of CE by drawing on relationship marketing theory and the service-dominant (S-D) logic. The analysis also examines the use of the term “engagement” in the social science, management, and marketing academic literatures, as well as in specific business practice applications. Five fundamental propositions (FPs) derived from this analysis are used to develop a general definition of CE, and distinguish the concept from other relational concepts, including “participation” and “involvement. ” The five propositions are used in the development of a framework for future research, the undertaking of which would facilitate the subsequent refinement of the conceptual domain of CE. Overall, CE, based on its relational foundations of interactive experience and the cocreation of value, is shown to represent an important concept for research in marketing and service management.
Income Distribution and Macroeconomics

This paper analyzes the role of income distribution in macroeconomic analysis. The study demonstrates that the long-run equilibrium depends on the initial distribution of income. In accordance with empirical evidence concerning the correlation between income distribution and output, an economy that is characterized by a relatively equal distribution of wealth is likely to be wealthier in the long run. The study may, therefore, provide an additional explanation for the persistent differences in per-capita output across countries. Furthermore, the paper may shed light on cross-countries differences macroeconomic adjustment to aggregate shocks.
Emotional Intelligence and Teaching Self-Efficacy as Predictors of Teaching Ability

Emotional Intelligence (EI) has proved to be a promising concept in the fields of psychology and education. EI is still being regarded cautiously as a ‘gold standard’ for measurement and prediction for acceptance for teacher training program. This study examines the potential contribution of four measures – EI, teaching self-efficacy (TSE), psychometric exam grades, and grades of teaching skills during field training. The research population comprised 100 student teachers from college in northern Israel. The findings will help to shed more light on the implications of EI and point to future directions in the evaluation, selection and training of excellent teachers. Keywords: emotional intelligence, psychometric exam grades, teaching self-efficacy, teaching skills grades
Gaze-Centered Updating of Visual Space in Human Parietal Cortex

Single-unit recordings have identified a region in the posterior parietal cortex (PPC) of the monkey that represents and updates visual space in a gaze-centered frame. Here, using event-related functional magnetic resonance imaging, we identified an analogous bilateral region in the human PPC that shows contralateral topography for memory-guided eye movements and arm movements. Furthermore, when eye movements reversed the remembered horizontal target location relative to the gaze fixation point, this PPC region exchanged activity across the two cortical lobules. This shows that the human PPC dynamically updates the spatial goals for action in a gaze-centered frame.
The Effect of TV and Online Shopping Value on Online Patronage Intention in a Multi-channel Retail Context

With the proliferation of multi-channel retailing, developing a better understanding of the factors that affect customers’ purchase behaviors within a multi-channel retail context has become an important topic for practitioners and academics. While many studies have investigated the various customer behaviors associated with brick-and-mortar retailing, online retailing, and brick-and-click retailing, little research has explored how customer shopping value perceptions influence online purchase behaviors within the TV-and-online retail environment. The main purpose of this study is to investigate the influence of TV and online shopping values on online patronage intention. Data collected from 116 respondents in Taiwan are tested against the research model using the partial least squares (PLS) approach. The results indicate that utilitarian and hedonic TV shopping values have indirect, positive influences on online patronage intention through their online counterparts in the TV-and-online retail context. The findings of this study provide several important theoretical and practical implications for multi-channel retailing. Keywords—Multi-channel retailing; utilitarian shopping value; hedonic shopping value; online purchase
Investigating the Putative Glycine Hinge in Shaker Potassium Channel

The crystal structure of an open potassium channel reveals a kink in the inner helix that lines the pore (Jiang, Y.X., A. Lee, J.Y. Chen, M. Cadene, B.T. Chait, and R. MacKinnon. 2002. Nature 417:523–526). The putative hinge point is a highly conserved glycine residue. We examined the role of the homologous residue (Gly466) in the S6 transmembrane segment of Shaker potassium channels. The nonfunctional alanine mutant G466A will assemble, albeit poorly, with wild-type (WT) subunits, suppressing functional expression. To test if this glycine residue is critical for activation gating, we did a glycine scan along the S6 segment in the background of G466A. Although all of these double mutants lack the higher-level glycosylation that is characteristic of mature Shaker channels, one (G466A/V467G) is able to generate voltage-dependent potassium current. Surface biotinylation shows that functional and nonfunctional constructs containing G466A express at comparable levels in the plasma membrane. Compared with WT channels, the shifted-glycine mutant has impairments in voltage-dependent channel opening, including a right-shifted activation curve and a decreased rate of activation. The double mutant has relatively normal open-channel properties, except for a decreased affinity for intracellular blockers, a consequence of the loss of the side chain of Val467. Control experiments with the double mutants M440A/G466A and G466A/V467A suggest that the flexibility provided by Gly466 is more important for channel function than its small size. Our results support roles for Gly466 both in biogenesis of the channel and as a hinge in activation gating.
Day centres for severe mental illness.

BACKGROUND The number of people with severe mental illness who receive treatment whilst living at home has increased greatly over the last 30 years. Day centres and day hospitals frequently supplement this treatment. OBJECTIVES To determine the effects of non-medical day centre care for people with severe mental illness. SEARCH STRATEGY The Allied and Complementary Medicine Database (1985-1999), The British Nursing Index (1994-1998), The Cochrane Library (Issue 2, 1999), The Cochrane Schizophrenia Group's Register (May 1999), EMBASE (1980-1999), MEDLINE (1966-1999), PsycLIT (1887-1999), The Royal College of Nurses Database (1985-1996), and Sociological Abstracts (1963-1999) were searched. References of all identified studies were also inspected for more studies. SELECTION CRITERIA All randomised controlled trials where seriously mentally ill people were allocated to non-medical day centre care. DATA COLLECTION AND ANALYSIS Studies were reliably selected, quality rated and data extracted. For dichotomous data, it had been hoped to estimate the Peto odds ratios (OR) with 95% confidence intervals (CI) and the number needed to treat statistic (NNT). Analysis was to have been by intention-to-treat. Normal continuous data were to have been summated using the weighted mean difference (WMD) and scale data presented only for those tools that had attained pre-specified levels of quality. MAIN RESULTS Despite extensive searching, no trials were found of non-medical day centres. The electronic search identified over 300 citations but none was relevant to this review. REVIEWER'S CONCLUSIONS The reviewers feel that the inclusion of any studies less rigorous than randomised trials would result in misleading findings and that it is not unreasonable to expect well designed, conducted and reported randomised controlled trials of day centre care. More precise nomenclature would greatly help identify relevant work. At present non-randomised comparative studies give conflicting messages about the roles provided by day centres and the clinical and social needs they are able to meet. It is therefore probably best that people with serious mental illness and their carers, if given the choice, take a pragmatic decision on which type of unit best meets their needs. There is a clear need for randomised controlled trials of day centre care compared to other forms of day care, such as day hospitals.
Sketching via hashing: from heavy hitters to compressed sensing to sparse fourier transform

Sketching via hashing is a popular and useful method for processing large data sets. Its basic idea is as follows. Suppose that we have a large multi-set of elements S = {a1, . as} ⊂ {1 . n}, and we would like to identify the elements that occur “frequently” in S. The algorithm starts by selecting a hash function h that maps the elements into an array c[1 . m]. The array entries are initialized to 0. Then, for each element a ∈ S, the algorithm increments c[h(a)]. At the end of the process, each array entry c[j] contains the count of all data elements a ∈ S mapped to j. It can be observed that if an element a occurs frequently enough in the data set S, then the value of the counter c[h(a)] must be large. That is, “frequent” elements are mapped to “heavy” buckets. By identifying the elements mapped to heavy buckets and repeating the process several times, one can efficiently recover the frequent elements, possibly together with a few extra ones (false positives).
Zero-latency tapping: using hover information to predict touch locations and eliminate touchdown latency

A method of reducing the perceived latency of touch input by employing a model to predict touch events before the finger reaches the touch surface is proposed. A corpus of 3D finger movement data was collected, and used to develop a model capable of three granularities at different phases of movement: initial direction, final touch location, time of touchdown. The model is validated for target distances >= 25.5cm, and demonstrated to have a mean accuracy of 1.05cm 128ms before the user touches the screen. Preference study of different levels of latency reveals a strong preference for unperceived latency touchdown feedback. A form of 'soft' feedback, as well as other uses for this prediction to improve performance, is proposed.