Miracle-dz/UniFAR-FTUs huggingface dataset:
De Novo Mutation of KAT6B Gene Causing Atypical Say–Barber–Biesecker–Young–Simpson Syndrome or Genitopatellar Syndrome

ABSTRACT Mutations in KAT6B gene are responsible for Say–Barber–Biesecker–Young–Simpson syndrome (SBBYSS) and genitopatellar syndrome (GPS), with most mutations occurring in exon 18. A 4-year-old Chinese boy presented with short stature but no other clinical features of SBBYSS or GPS had a de novo novel nonsense pathogenic mutation in exon 14 of the KAT6B gene at position c.2636T>A (p.Leu879X). The correlation analysis of genotype–phenotype indicated distinctive clinical features (short stature, growth hormone deficiency, and delayed bone age) compared with the classical mutations of KAT6B gene. To the best of our knowledge, this is the first report of KAT6B gene mutation in any Chinese individual. This work expands the mutant phenotypic spectrum of the KAT6B gene.
β‐Blocker Therapy: A Standard of Care for Heart Failure

β‐Adrenergic‐blocking agents underwent extensive research over the past 2 decades and emerged as a proven state‐of‐art therapy for the failing human heart. Through blockade of chronically elevated cardiac adrenergic stimulation, selective and nonselective agents with vasodilating properties prevent progression of myocardial dysfunction and cardiac remodeling. Most important, β‐adrenergic blockers added to conventional therapy of vasodilators and diuretics significantly increase survival to a 5‐year rate similar to that of cardiac transplantation. The agents also significantly reduce hospitalizations, improve quality of life, and are well tolerated in clinical trials. The challenge in treating heart failure is to ensure that every eligible patient receives these life‐saving drugs.
Two‐step consumption of yolk granules during the development of quail embryos

The mechanism of yolk consumption was studied morphologically and biochemically in Japanese quail Coturnix japonica. The amount of yolk granules in the yolk (or ‘yolk cell’) decreased in two steps during embryonic development. In the first step, during days 0–4 of incubation, the yolk‐granule weight decreased at a rate of 13 mg/day. This decrease was due to segregation by endodermal cells that were newly formed in the developing yolk sac. In the second step after day 6, the decrease was drastic at a rate of 29.8 mg/day during days 6–12 and very slow thereafter. The decrease at the second step was due to the enzymatic digestion of yolk granules by cathepsin D that coexisted in yolk spheres. This digesting reaction was triggered by the solubilization of the granules with high concentrations of salts that were supplied after disruption of the limiting membrane of yolk spheres. The ‘yolk cell’ seemed to die around day 5 of incubation. Thus the digestion products might be taken up together with yolk lipids by endocytosis into the endodermal cells and transported to blood vessels.
PTOV1 Enables the Nuclear Translocation and Mitogenic Activity of Flotillin-1, a Major Protein of Lipid Rafts

ABSTRACT PTOV1 is a mitogenic protein that shuttles between the nucleus and the cytoplasm in a cell cycle-dependent manner. It consists of two homologous domains arranged in tandem that constitute a new class of protein modules. We show here that PTOV1 interacts with the lipid raft protein flotillin-1, with which it copurifies in detergent-insoluble floating fractions. Flotillin-1 colocalized with PTOV1 not only at the plasma membrane but, unexpectedly, also in the nucleus, as demonstrated by immunocytochemistry and subcellular fractionation of endogenous and exogenous flotillin-1. Flotillin-1 entered the nucleus concomitant with PTOV1, shortly before the initiation of the S phase. Protein levels of PTOV1 and flotillin-1 oscillated during the cell cycle, with a peak in S. Depletion of PTOV1 significantly inhibited nuclear localization of flotillin-1, whereas depletion of flotillin-1 did not affect nuclear localization of PTOV1. Depletion of either protein markedly inhibited cell proliferation under basal conditions. Overexpression of PTOV1 or flotillin-1 strongly induced proliferation, which required their localization to the nucleus, and was dependent on the reciprocal protein. These observations suggest that PTOV1 assists flotillin-1 in its translocation to the nucleus and that both proteins are required for cell proliferation.
Head injury and brain ischaemia--implications for therapy.

Brain ischaemia is a frequent and important sequel to brain injury. Areas of ischaemic brain damage are an almost invariable finding at postmortem in patients who have sustained severe head injury— that is, injury associated with coma (Graham, Adams and Doyle, 1978). Sequential computerized tomography of the head in disabled survivors of severe head injury frequently reveals sizeable cerebral infarcts (Miller et al., 1980). Traumatic brain laceration results also in ischaemia in the territory of divided vessels. Herniation of the medial temporal lobe of the brain through the tentorial hiatus and downward axial shift of the brain stem produce stretching and distortion of the brain arterial supply with ischaemia and infarction in the brain stem and occipital lobes (Miller and Adams, 1984). Brain ischaemia may therefore be the single most important mechanism in the production of secondary brain dysfunction and damage after severe head injury.
Characterization of Transfluthrin Emissions Over Time in an Enclosed Space Over a Range of Discreet Temperatures

Abstract : The Armed Forces Pest Management Board (AFPMB) has expressed interest in using the commercially available pyrethroid, transfluthrin, as a spatial repellent in ongoing efforts to protect military personnel from vector-borne diseases. Transfluthrin is currently used in malaria endemic areas as an indoor residual spray. It is effective at significantly reducing the number of bites from mosquitoes. However, little is known about the actual amounts of transfluthrin in the air when effective repellency/bite reduction occurs, and if those concentrations are of concern to human health. The purpose of this research is to characterize airborne transfluthrin concentrations, when a known amount of transfluthrin liquid is applied to fabric and then subjected to a range of discrete temperatures. A l 7cm by 20 cm (340cm2) piece of transfluthrin treated fabric was placed in a temperature-controlled, enclosed space simulating a tent or hut. Air samples were taken at multiple locations within the space over an 8-hour day to track the movement of transfluthrin through the space. Experimentation was conducted at four temperatures (27-50) C. This research has demonstrated several relationships with the airborne concentration of transfluthrin. It increases as temperature and height are increased, it decreases as the distance from the source increases, and within the enclosed space used in this study, transfluthrin was well below the levels of current occupational exposure guidelines.
Ruderman-Kittel theory of oscillatory interlayer exchange coupling.

We present a Ruderman-Kittel approach to the problem of oscillatory exchange coupling between ferromagnetic layers separated by a nonmagnetic metal spacer. This model provides a very simple explanation for the occurrence of long periods as well as multiperiodic oscillations, and is valid for arbitrary crystal structure and Fermi surface. The role of defects, such as misfit dislocations and interfacial roughness, is discussed.
Alcohol use disorders in primary care: do gender-specific differences exist?

OBJECTIVE To describe how alcohol use disorders (AUDs) affect women, focusing on gender-specific implications for primary care physicians (PCPs). DESIGN An overview of literature from 1966 to 2000 identified by a medline, PsychINFO and HealthSTAR/Ovid Healthstar database search using key words "women,""alcohol" and "alcoholism. " MEASUREMENTS AND MAIN RESULTS Although the prevalence of AUDs is greater in men than in women, women with AUDs are more likely to seek help, but less likely to be identified by their physicians. Psychiatric comorbidities (especially depression and eating disorders) are more common in women with AUDs than in men with AUDs. A past history of sexual and/or physical abuse places a woman at increased risk for AUDs. Women have a greater sensitivity to alcohol, have an accelerated progression from alcohol toxicity, and have increased mortality at lower levels of consumption compared to men. Women and men who are light-to-moderate drinkers have lower coronary artery disease mortality than do abstainers or heavy drinkers. Risk of breast cancer is increased in women who drink >or=1 drinks daily. Common barriers to treatment include: fear of abandonment by partner; fear of loss of children; and financial dependency. Brief interventions have been shown to be effective in reduction of alcohol consumption in women with at-risk drinking. It is unclear if women-only treatment programs improve outcomes. CONCLUSION PCPs should be alert to gender-specific differences for women with AUDs.
A two-channel interleaved boost converter with reduced core loss and copper loss

A two-channel interleaved boost converter using an integrated magnetic component to reduce the core and copper losses is proposed in this paper. The integrated magnetic component functions as three inductors. All inductor windings are wound on a single EI or EE core. In the proposed winding arrangement, inductors can be designed to have smaller inductances and fewer turns. Some windings of the integrated magnetic component are inversely coupled, which helps to reduce the ripple of the magnetic flux. The equivalent circuit model of the proposed integrated magnetic component and its characteristics are discussed. Experimental results show that the proposed approach can offer significant improvement in efficiency.
Should there be an app for that? The case for text messaging in mHealth interventions

The promise of mHealth (mobile health) is to reduce health disparities by increasing reach to patients who have fewer resources and have been historically difficult to engage. App- and web-based interventions are increasingly the focus of mHealth behavior change interventions.1 Yet only a fraction of the 165,000 health-related apps (available as of 2015) are used; 12% of apps account for 90% of downloads.2 Nonetheless, the number of health-related apps continues to increase exponentially. Recently, physicians and experts in behavior change have begun collaborating to create apps with greater promise for improving outcomes. But are apps the best option for our most vulnerable patients? This article is protected by copyright. All rights reserved.
Subjective Well-Being Measures of Hemodialysis Patients

In recent years the frequency of intra-dialytic symptoms has been decreasing, improving the patient well-being during treatment sessions. This has mainly been due to technical advances, such as more reliable monitoring devices, better water quality, physiological bicarbonate-based dialysate and machines to control ultrafiltration. Nowadays during hemodialysis (HD), patients suffer less from hypotension, cramps, headache, dizziness, nausea and vomiting (Himmelfarb & Ikizler, 2010; Al-Hilali et al., 2004). However, instead of well-being during dialysis, this chapter examines the well-being of patients between sessions, in their daily lives, focusing on how they perceive their quality of life (QOL). Unfortunately, technical advances in HD have not brought changes in the characteristics of renal replacement therapy: severe dietary restrictions, lost time, dependence on a machine, common occurrence of clinical complications and high mortality. Treatment of end-stage renal disease (ESRD) with HD is thus inherently distressing, causing social and family changes, and interferes profoundly in patients’ well-being (Cukor et al., 2007; Tsutsui et al., 2009; Low et al., 2008). ESRD treated with HD should be highlighted among other chronic diseases concerning its treatment, evolution and life consequences. Treatment depends not only on polypharmacy, but also on artificial replacement of kidney function by a machine – still a deficient method that cannot prevent various complications: ostheodystrophy, atherosclerotic disease and risk for infections. This inefficacious replacement of kidney function causes these patients to have a twenty-fold higher chance of death than in the general population (Parmar, 2002). HD patients must adhere to a very restricted diet with controlled ingestion of water. In conventional HD, the patient is submitted to sessions of dialysis for approximately four hours three times a week in a renal unit (plus the time spent commuting to and from the renal unit), a time loss that influences employment, leisure and relationships. It is not surprising, then, that ESRD treated with HD affects QOL more intensely than heart failure, diabetes, chronic lung disease, arthritis and cancer (Mittal et al., 2001). Therefore dialytic therapy is associated with powerful stressors. The literature shows that successful adaptation to dialysis depends more on personal stress modulators than on objective treatment variables (Tsay et al., 2005; Curtin & Mapes, 2001). Personal modulators are mainly subjective, due to psychology, personality and behaviour (Cukor et al., 2007). These subjective factors cannot be discovered by traditional medical measures like physical signs, laboratory and radiological data. The assessment of these
Scoping workplace aggression in nursing: findings from an Australian study.

AIM This paper reports a study of workplace aggression among nurses in Tasmania, Australia. There is international concern about a perceived rise in occupational violence as a major worldwide public health problem, with associated financial costs. BACKGROUND There is reason to suspect that aggression towards nurses is increasing. For example, increased illicit drug use puts nurses at the sharp end in managing patients admitted with drug-related problems. Such people are often resistant to healthcare intervention, and often have associated disorders, including mental illness. Despite this increased awareness, comprehensive data on occupational violence in nursing are not available. METHOD A specially designed questionnaire was sent to all nurses registered with the Nursing Board of Tasmania (n = 6326) in November/December 2002, with 2407 usable questionnaires returned. The response rate was 38%. FINDINGS A majority of respondents (63.5%) had experienced some form of aggression (verbal or physical abuse) in the four working weeks immediately prior to the survey. Patients/clients or their visitors were identified as the main perpetrators, followed by medical and nursing colleagues. Abuse influenced nurses' distress, their desire to stay in nursing, their productivity and the potential to make errors, yet they were reluctant to make their complaints 'official'. As well as reporting high levels of verbal and physical abuse, nurses were distressed because they could not provide the appropriate care to meet patients' needs. Few working environments were free of aggression. CONCLUSION Future research should try to determine the specific factors, including staff characteristics and environment, associated with the high levels of aggression reported in 'hot spots' where, on the basis of the present results, many staff experience high levels of verbal and physical abuse. Unless managers take steps to improve the situation, attrition from the profession for this reason will continue.
A study on the route selection problem for ship evacuation

Evacuation in a large-scale passenger ship is a complex process. During the ship design stage, in order to ensure that evacuees can evacuate to safe areas efficiently, it's very important to select an optimum evacuation route and give evacuation training to each evacuee. For this purpose, we proposed a method to select an optimum evacuation route. From the perspective of simulation, each evacuee will select route considering the length of the passage, actual congestion and individual complex behavior attributes. Finally, we tested the feasibility of the proposed method in MATLAB software environment.
Analyzing Sustainability of SMEs in Automotive Component Industry in Bekasi Regency

This research aim to analyze sustainability of SMEs in automotive component industry. Specifically has two main objectives, finding the relationship between sustainability and each variable, and finding the current sustainability pattern of SME in automotive component industry. The topic addressed due to the nature of industry (material and waste) where sustainability is undeniable. Supported by the growing number of SME in industry, where the effect of collective SMEs can be as big as corporation. The result of this study help to understand the current sustainability practice and as input for companies in industry. This research specifically conducted in Bekasi Regency and used the YDBA definition for SME. There are six variables that used to analyze sustainability practice in the industry, they are energy consumption, water consumption, waste management, environment preservation, equality in society, and noise and emission management. This research is conducted quantitatively by conduct survey in 30 companies. The result then analyze by using multiple regression analysis (standard and stepwise) to test the hypothesis. The results of the research found that the current sustainability practice of SME in the automotive component industry have positive significance relationship in water consumption, waste management, and noise and emission management; negative un-significant relationship with energy consumption; and positive un-significant relationship with environment preservation and equality in society. The second analysis by using stepwise shows that there are three necessary variable contribute to the current sustainability, they are water consumption, waste management, and noise and emission management.
Improving the Fourier modal method for crossed gratings with C3 symmetry by using a group-theoretic approach

Following a group-theoretic approach that we have developed recently, we reformulate the Fourier modal method for crossed gratings with C3 symmetry, i.e., grating structures that are invariant after rotations about the normal of the mean grating plane through angles n(2π/3). By exploiting the structural symmetry of the grating, a general diffraction problem can be decomposed into a linear combination of three symmetrical basis problems. Hence the total diffracted field can be obtained as a superposition of the solutions of three symmetry modes. It is shown theoretically and numerically that when the incident mounting and the truncation scheme make the truncated reciprocal lattice of the diffracted field also have the C3 symmetry, the number of unknowns in each symmetrical basis problem is cut by 2/3. Therefore, the maximum effective truncation number of the new algorithm is tripled and the total computation time is reduced by a factor of 9. For the case of normal incidence with arbitrary polarization, the reduction factor can be further increased to 27/2. A numerical example is provided to illustrate the effectiveness of the new formulation.
At the Origins of the Non-Voting Shares ’ Discount : Investor Preferences vs . Fundamentals

An intense debate on the use of non-voting shares developed in the UK in the second half of the twentieth century. Using a unique hand-collected dataset, we ask to what extent variations in firms’ fundamentals, vis a vis changes in investor preferences toward non-voting shares, explain the relative price of voting and nonvoting shares (i.e., the voting premium). We show that negative news coverage of dual class firms is associated to an increase in the voting premium even if no new material information has been revealed. Furthermore, a higher voting premium and negative news for dual class firms are followed by lower returns for voting shares than for non-voting shares suggesting a reversion to fundamentals. These results indicate that, during this period, market participants may have started to consider nonvoting shares as inferior claims and that this limited firms’ ability to use dual class shares.
Hilbert regularity of ZZ-graded modules over polynomial rings

Let M be a finitely generated Z-graded module over the standard graded polynomial ringR= K[X1, . ,Xn] with K a field, and letHM(t) = QM(t)/(1− t)d be the Hilbert series of M. We introduce the Hilbert regularity of M as the lowest possible value of the Castelnuovo-Mumford regularity for an R-module with Hilbert seriesHM. Our main result is an arithmetical description of this invar iant which connects the Hilbert regularity ofM to the smallestk such that the power series QM(1− t)/(1− t)k has no negative coefficients. Finally we give an algorithm for the c omputation of the Hilbert regularity and the Hilbert depth of an R-module.
How Freemium Gets Consumers to Pay a Premium: The Role of Loss-Aversion

We consider the optimal pricing of a freemium product offered by a firm to consumers who are loss-averse with stochastic and endogenous reference points, and the role of the consumers' surprise on their purchase decision about the premium version, after experiencing the free version. We formulate the problem as a multistage Stackelberg game and investigate its equilibrium by determining the consumers' optimal purchase plan, the firm's optimal price to charge for the premium version, and the optimal quality level that the firm sets for the premium version. We show that a consumer becomes more willing to buy the premium version if he becomes somewhat dissatisfied to realize that the free version's value is lower than his expectation. This result goes against the common advice by practitioners that the firms must under-promise and over-deliver to ensure higher profitability. We show that the somewhat-dissatisfied consumer is not only more willing to buy the premium version, but he also could pay a price higher than its realized value. This is a result that does not occur when the consumer is satisfied or entirely dissatisfied with the free version. It also explains the real phenomenon in which many consumers run up massive bills in using freemium products. We show that, increasing the premium version's quality could cause the firm to optimally reduce its price, which is in contrast to our common quality-price intuition: a higher quality product should be sold more expensively. When the quality, price and the consumer's purchase plan are jointly optimized, we show that, the optimal price can increase in the order quantity. This behavior counters the common expectation that when the firm has more available units it should sell them cheaper to avoid the risk of unsold inventory.
An Integrated Trap-LCL Filter With Reduced Current Harmonics for Grid-Connected Converters Under Weak Grid Conditions

High-frequency current harmonics injected into the point of common coupling, mainly at the switching frequency and its multiples introduced by the modulation of grid-connected converters, should be limited to comply with grid codes. This requirement can be satisfied by using trap filters with LC-traps tuned at the switching frequency and its multiples in replacement of conventional L filters. However, all existing trap filters are subject to certain problems, e.g., sensitivity to grid impedance variation and decreased high-frequency roll-off rate. In view of this, this paper presents a trap-LCL filter with its parallel resonant LC-trap located on the converter side, named as LT-C-L filter. The modeling and analysis presented in this paper show that the LT-C-L filter can be the most promising trap filter due to its advantages such as high roll-off rate, robustness against parametric variations of grid impedance and passive damper, satisfactory harmonic attenuation at the switching frequency, reduction of converter current total-harmonic-distortion, and flexible design of filter components through magnetic integration. A single-phase ac/dc grid-connected converter prototype has been built and tested in the laboratory, and experimental results are presented to verify the superiority of the proposed filter.