Miracle-dz/UniFAR-FTUs huggingface dataset:
Four novel mutations in the GCH1 gene of Chinese patients with dopa‐responsive dystonia

Mutation detection in the guanosine triphosphate cyclohydrolase I gene (GCH1) was performed from 4 female patients with dopa‐responsive dystonia (DRD). DNA sequencing revealed the presence of four novel mutations including c.2T>C(M1T), c.239G>A(S80N), c.245T>C(L82P), and IVS5+3 del AAGT. These four mutations were not found in 100 genetically unrelated healthy controls with the same ethnic background band. In all 3 childhood‐onset patients, DRD started in the legs, and missense mutations were located in the coding region of GCH1. Deletion mutation in the fifth exon–intron boundary of GCH1 was detected in the adult‐onset patient. Although the data presented here do not provide sufficient evidence to establish a genotype–phenotype correlation of DRD, it is important to know the clinic features and genetic defects of DRD patients, which will help prenatal diagnosis, early diagnosis, evaluate the prognosis, and facilitate causal therapy with levodopa. © 2010 Movement Disorder Society
Phage display of a CTL epitope elicits a long‐term in vivo cytotoxic response

Abstract The Ovalbumin257–264 CTL epitope on the major coat protein of the filamentous bacteriophage in different antigen formulations was displayed and the immune response in C57BL6/J mice studied. The display of single cytotoxic epitope on the surface of the virion is sufficient to induce priming and sustain long‐term major histocompatibility complex class I restricted cytotoxic T lymphocytes response in vivo. The filamentous bacteriophage is a versatile carrier able to display simultaneously either single or multiple epitopes and can elicit a cellular response carrying very little peptide (<1.5 μg).
S kin or S kim ? I nside I nvestment and H edge F und P erformance ∗

Using a comprehensive and survivor bias-free dataset of US hedge funds, we document the role that inside investment plays in managerial compensation and fund performance. We find that funds with greater investment by insiders outperform funds with less “skin in the game” on a factor-adjusted basis, exhibit greater return persistence, and feature lower fund flow-performance sensitivities. These results suggest that managers earn outsize rents by operating trading strategies further from their capacity constraints when managing their own money. Our findings have implications for optimal portfolio allocations of institutional investors and models of delegated asset management. JEL classification: G23, G32, J33, J54
Kommunikation und Kooperation : theoretische u. empirische Untersuchungen zur kommunikativen Organisation kooperativer Prozesse

Kooperative (Arbeits-)Prozesse erfordern zu ihrem Zustandekommen und Gelingen Kommunikation und werden von den Beteiligten entsprechend auch kommunikativ organisiert. Die vorliegende Arbeit, die theoretisch dem linguistischen Funktionalismus und der Tatigkeitstheorie verpflichtet ist, untersucht detailliert die systematischen Zusammenhange zwischen Kommunikation und Kooperation. In einem ersten Schritt wird definiert, welche Tatigkeitszusammenhange als Kooperationen gelten, und es wird ein Begriffsinstrumentarium zur Beschreibung und Analyse von Kooperationen eingefuhrt. Anschliesend wird das Konzept des Kommunikationsbedarfs von Kooperationen entwickelt sowie die kommunikative Organisation singularer faktischer Kooperationen - z.T. vergleichend - untersucht. Im Anhang finden sich Transkriptionen von vier Kooperationen.
Timetable Scheduling Using Particle Swarm Optimization

In timetable scheduling problems, examination subjects must be slotted to certain times that satisfy several of constraints. They are NP-completeness problems, which usually lead to satisfactory but suboptimal solutions. As PSO has many successful applications in continuous optimization problems, the main contribution of this paper is to utilize PSO to solve the discrete problem of timetable scheduling. Experimental results confirm that PSO can be utilized to solve discrete problem as well
Assessment of Adherence to Highly Active Antiretroviral Therapy in a Cohort of African HIV-Infected Children in Abidjan, Côte d'Ivoire

African HIV-infected children benefit from access to antiretroviral treatments but little is known about their adherence. A cross-sectional assessment of adherence to highly active antiretroviral therapy was conducted among a group of children recruited in an observational cohort in Abidjan, Côte d'Ivoire. Adherence was determined by a 1-month recall by child or caregiver, with full adherence signifying no interruptions in the prior month. One-third reported less than full adherence. Undetectable viral load was associated with full adherence in a subset of children with a P value <10% (P = 0.098). As compared with children with full adherence, those with less than full adherence were significantly older and more likely to be taking efavirenz. These findings underscore the necessity of assessing and supporting children's adherence routinely in AIDS care institutions.
Chimpanzee adenoviral vectors as vaccines – challenges to move the technology into the fast lane

ABSTRACT Introduction: In recent years, replication-defective chimpanzee-derived adenoviruses have been extensively evaluated as genetic vaccines. These vectors share desirable properties with human adenoviruses like the broad tissue tropism and the ease of large-scale manufacturing. Additionally, chimpanzee adenoviruses have the advantage to overcome the negative impact of pre-existing anti-human adenovirus immunity. Areas covered: Here the authors review current pre-clinical research and clinical trials that utilize chimpanzee-derived adenoviral vectors as vaccines. A wealth of studies are ongoing to evaluate different vector backbones and administration routes with the aim of improving immune responses. The challenges associated with the identification of an optimal chimpanzee vector and immunization strategies for different immunological outcomes will be discussed. Expert commentary: The demonstration that chimpanzee adenoviruses can be safely used in humans has paved the way to the use of a whole new array of vectors of different serotypes. However, so far no predictive signature of vector immunity in humans has been identified. The high magnitude of T cell responses elicited by chimpanzee adenoviruses has allowed dissecting the qualitative aspects that may be important for protective immunity. Ultimately, only the results from the most clinically advanced products will help establish the efficacy of the vaccine vector platform in the field of disease prevention.
Characterization of the ferrous iron uptake system of Escherichia coli

Escherichia coli has an iron(II) transport system (feo) which may make an important contribution to the iron supply of the cell under anaerobic conditions. Cloning and sequencing of the iron(II) transport genes revealed an open reading frame (feoA) possibly coding for a small protein with 75 amino acids and a membrane protein with 773 amino acids (feoB). The upstream region of feoAB contained a binding site for the regulatory protein Fur, which acts with iron(II) as a corepressor in all known iron transport systems of E. coli. In addition, a Fnr binding site was identified in the promoter region. The FeoB protein had an apparent molecular mass of 70 kDa in sodium dodecyl sulfate-polyacrylamide gel electrophoresis and was localized in the cytoplasmic membrane. The sequence revealed regions of homology to ATPases, which indicates that ferrous iron uptake may be ATP driven. FeoA or FeoB mutants could be complemented by clones with the feoA or feoB gene, respectively.
Type I pleuropulmonary blastoma: a report from the International Pleuropulmonary Blastoma Registry.

PURPOSE Type I pleuropulmonary blastoma (PPB) is a rare, cystic lung neoplasm in infants characterized by subtle malignant changes and a good prognosis. Recurrences after type I PPB are usually advanced type II or type III neoplasms with a poor prognosis. This article describes the first collection of type I PPB cases, analyzes outcome based on treatments of surgery or surgery plus chemotherapy, and presents type I PPB management recommendations. PATIENTS AND METHODS Type I PPB cases from the International PPB Registry and literature were evaluated using standard statistical methods for outcomes based on age at diagnosis, sex, thoracic side, surgical extent, length of follow-up, constitutional/familial disease, pre-existing lung cysts, intrathoracic findings, and treatments (surgery or surgery and chemotherapy). RESULTS Thirty-eight type I PPB cases were identified: Registry (n = 30) and literature (n = 8). Twenty children had surgery alone; eight (40%) experienced recurrence; and four died. Eighteen children had surgery and adjuvant chemotherapy; one experienced recurrence and died. All recurrences were type II or III PPB. Recurrence-free survival was higher in the surgery + chemotherapy group (P = .01); overall survival did not differ (P = .18). The improved recurrence-free survival was found only in males. Four of nine children with recurrence survived. CONCLUSION Adjuvant chemotherapy appears to benefit type I PPB patients. Benefit limited to males requires broader substantiation. Salvage after types II and III recurrence is poor (four of nine; 44%). A rigorous surveillance schedule after type I PPB diagnosis might detect early recurrence and be an acceptable alternative to adjuvant chemotherapy.
Low rates of PTSD in men attending childbirth: a preliminary study.

OBJECTIVES To investigate whether men experience symptoms of post-traumatic stress disorder (PTSD) after attending their partner's labour and delivery and the prevalence and predictors of symptoms of PTSD, anxiety, and depression. DESIGN This quantitative study involved a large sample, within-participants design with questionnaires completed at recruitment and six weeks follow-up. METHODS Within 72 hours of attending their partner giving birth, 199 men provided demographic details and completed questions about their partner's pregnancy, labour and delivery. Six weeks later they completed a second questionnaire booklet containing measures of symptoms of post-traumatic stress, anxiety, and depression. RESULTS No men reported symptoms at significant levels on all three dimensions of PTSD (intrusions, avoidance, and hyperarousal) although 12% reported clinically significant symptoms on at least one dimension. The dimension with the highest frequency was hyperarousal. Linear regression indicated more PTSD symptoms were predicted by trait anxiety, fewer children, the pregnancy being unplanned, being present at actual delivery, and feeling less confident about coping, less prepared, and more distressed during the process of childbirth. Prevalence of clinically significant symptoms of depression and anxiety was 8 and 7%, respectively, and was predicted by higher trait anxiety. CONCLUSIONS In this sample there was little evidence for the full constellation of PTSD in men attending their partner giving birth. Using a trauma perspective in this context may not be supported. Those symptoms most commonly reported could be viewed primarily as anxiety and were linked with less previous experience of attending childbirth. Attendance at actual delivery was a key predictor of symptoms.
Adaptive Multidimensional Neuro-Fuzzy Inference System for Time Series Prediction

This paper introduces a novel approach to forecast nonlinear time series using an adaptive multidimensional neuro-fuzzy inference system (AMNFIS), developed originally for processes control. In relation to other neuro-fuzzy systems, AMNFIS has a lower number of parameters avoiding the course of dimensionality problem. In addition, several strategies for fitting and model specification are discussed. In this paper, AMNFIS is used to forecast two well-known nonlinear time series and the results are compared against the forecasts obtained using the ARIMA approach and artificial neural networks. Empirical evidences indicate that AMNFIS is more accurate for forecasting the considered time series than the other two models.
Effects of bovine lactoferrin on the immature porcine intestine

Bioactive milk proteins may be important in protecting preterm infants from developing inflammation and necrotising enterocolitis (NEC). A preterm pig model was used to investigate the protective effects of enteral bovine lactoferrin (bLF) against NEC development and inflammation. Caesarean-delivered preterm pigs were fed parenteral and minimal enteral nutrition for the first 2 d followed by 2 d of total enteral nutrition before euthanasia. Pigs were stratified into two groups and fed with either a control formula (CON, n 15) or a 10 g/l of bLF-enriched formula (LF, n 13). NEC incidence, gut functions and inflammatory cytokines were analysed. NEC incidence and nutrient absorption were similar between the two groups. In pigs that developed NEC, disease outcome was more severe in the colon accompanied by increased intestinal permeability in LF pigs. In contrary, the LF pigs had a lowered IL-1β level in the proximal small intestine. Dose-dependent effects of bLF on cell proliferation, intracellular signalling and cytokine secretion were tested in porcine intestinal epithelial cells (PsIc1) in vitro. Low doses (0·1–1 g/l) increased cell proliferation via extracellular signal-regulated kinase (ERK), limited IL-8 secretion and prevented NF-κB and hypoxia-inducible factor-1α (HIF-1α) activation, suggesting anti-inflammatory effects. In contrast, at a higher dose (10 g/l), bLF exerted adverse effects by reducing cell proliferation, stimulating IL-8 release, inhibiting ERK activation and up-regulating NF-κB and HIF-1α activation. Overall, at a dose of 10 g/l, bLF exacerbated disease severity in pigs that developed NEC, while the in vitro studies indicated the positive effects of bLF at low doses (0·1–1 g/l). Supplementation of infant formulas with bLF should therefore be optimised carefully.
High Temperature Affects Photosynthetic and Molecular Processes in Field‐Cultivated Vitis vinifera L. × Vitis labrusca L.

High‐temperature stress markedly influences grape growth and development. However, how high‐temperature stress response differs between controlled and field‐cultivated grape is poorly understood. In this study, the effects of heat treatment on grapevines were studied for changes in photosystem II (PSII) activity and expression levels of heat‐responsive genes and heat shock protein HSP21. July 31st, 2015 was considered as the post high‐temperature treatment (“42°C”; temperatures above 40°C for a period of time each day ranging from 1–7 h) under field cultivation in our experiment. The recovery of chlorophyll fluorescence indicators and the increasing expression of heat‐responsive genes and the heat shock protein HSP21 suggested the development of heat tolerance in the form of acclimation in grape. Changes in various parameters of photosynthetic pigment fluorescence and of the electron transport chain (Fv/Fm, PIABS, Wk, RCQA, ΦPo, and ΦEo) between “42°C” and the 45°C treatment demonstrated that the donor side, reaction center, and acceptor side of PSII were influenced by a critical high temperature. Furthermore, the difference between the two cultivation conditions studied was attributed to other environmental factors and inherent tree vigor.
Coexistence of Creutzfeldt‐Jakob disease and Alzheimer's disease in the same patient

We report the case of a 73-year-old patient in whom a diagnosis of Creutzfeldt-Jakob disease, suggested by the clinical course, was verified by the neuropathologic finding of widespread spongiform change and astrogliosis, the presence of proteinase-resistant protein in brain extracts, and the experimental transmission of spongiform encephalopathy to primates inoculated with brain tissue. However, neuropathologic examination also revealed a profusion of senile and neuritic plaques and neurofibrillary tangles that reacted with antibody to the amyloid β-protein characteristic of Alzheimer's disease, but not with antibody to the scrapie amyloid protein characteristic of Creutzfeldt-Jakob disease.
Application of a time varying elastance model to right ventricular performance in man.

To evaluate instantaneous right ventricular pressure-volume relations we studied nine patients with normal coronary anatomy and ventricular function with simultaneous high fidelity pressure, flow-velocity, and biplane cineventriculographic volumes (60 frames.s-1) during atrial pacing at 93(SD5) beats-min-1, partial autonomic blockade, and pharmacologically altered ventricular loading. The maximum time varying elastance, Emax, was defined as the maximum slope of isochronal, simultaneous pressure-volume data points derived by linear regression analysis from three loading conditions. The slope of the non-isochronal maximum pressure/volume ratio, pressure at minimum volume, end ejection pressure/volume, and peak right ventricular pressure/minimum volume were also derived from the three loading conditions. The mean slope for Emax was 1.30(0.84) mm Hg.ml-1 (range 0.62-2.87) and the volume axis intercept at zero pressure (Vo) was 46(21) ml (range 24-89 ml). Time dependent Emax was characterised by a series of parallel shifting lines of best fit with large changes in Vo in addition to changes in the slope of the pressure volume relations. Only maximum pressure/volume ratio and peak pressure/minimum volume were linearly related to Emax (r = 0.82 and 0.84 respectively, p = 0.05) while pressure at minimum volume and end ejection pressure/volume did not correlate with Emax. We conclude that in normal human subjects (1) right ventricular systolic function may be approximated using a time varying elastance model characterised by a time dependent Vo; (2) end systolic pressure-volume relations using maximum pressure/volume ratio and peak pressure/minimum volume systematically estimate Emax; and (3) other right ventricular end systolic pressure-volume relations near end ejection bear no obvious relation to Emax because of the wide temporal separation between peak systolic elastance and end ejection in this chamber.
Compact micromachined dipole antenna for 24 GHz differential SiGe integrated circuits

A compact micromachined meander dipole antenna, suitable for on-chip integration with 24 GHz differential SiGe circuits, is presented. By implementing the antenna on a 2.5 mm2 large, low loss BCB membrane close to free space radiation properties are obtained, despite the presence of a low resistivity silicon substrate.
Retail Pharmacy Market Structure and Performance

Substantial variation has been observed in the use of prescription drugs from retail pharmacies, the level of services provided by retail pharmacies, and the prices paid for prescriptions from retail pharmacies. It is not clear whether local area retail pharmacy market structures affect these pharmacy outcomes. The goal of this paper is to discuss the potential research avenues to address these issues. The discussion provides: 1) background on the retail pharmacy and its place within the pharmaceutical supply chain; 2) a discussion of the data that are available to address these issues and the measures that can be developed from these data; and 3) a review of existing research findings and gaps in knowledge.
The Critical Role of Velocity Storage in Production of Motion Sickness

We propose that motion sickness is mediated through the orientation properties of velocity storage in the vestibular system that tend to align eye velocity produced by the angular vestibulo‐ocular reflex (aVOR) with gravito‐inertial acceleration (GIA). (GIA is the sum of the linear accelerations acting on the head. In the absence of translational accelerations, gravity is the GIA.) We further postulate that motion sickness produced by cross‐coupled vestibular stimulation can be characterized by a metric composed of the disparity between the axis of eye rotation and the GIA, the strength of the response to angular motion, and the response duration, as determined by the central vestibular time constant, that is, by the time constant of velocity storage. The nodulus and uvula of the vestibulocerebellum are likely to be the central sites where the disparity is sensed, where the vestibular time constants are habituated, and where links are made to the autonomic system to produce the symptoms and signs.
In vitro Study of Bifidobacterium lactis BL-99 With Fructooligosaccharide Synbiotics Effected on the Intestinal Microbiota

Probiotics and prebiotics relieve constipation by altering the composition of the intestinal microbiota. However, their synergistic mechanism of action remains unclear. Herein, an in vitro fermentation model was constructed to examine the synergistic effects of Bifidobacterium lactis BL-99 and fructooligosaccharide (FOS) on the regulation of intestinal microbiota from a population with constipation. The utilization of FOS was promoted by BL-99, and the increase rate being 22.33%. Relative to the BL-99 and the FOS groups, the BL-99_FOS group showed a highly significant increase in acetic acid content (P < 0.01) and a marked decrease in CO2 and H2S contents (P < 0.01) in the fermentation broth. In addition, the BL-99_FOS combination significantly changed the structure of the intestinal microbiota, enhanced the relative abundances of beneficial bacteria that relieved constipation, including Bifidobacterium, Fecalibacterium, Lactobacillus, Subdoligranulum, and Blautia, and decreased those of the harmful bacteria, including Bilophila and Escherichia-Shigella. These findings suggested that BL-99 and FOS synergistically regulated the composition and structure of the intestinal microbiota from the population with constipation and increased acetic acid and decreased CO2 and H2S levels, thereby providing a theoretical basis for the application of synbiotics.
In Vitro Activity of the Oxazolidinone RWJ-416457 against Linezolid-Resistant and -Susceptible Staphylococci and Enterococci

ABSTRACT RWJ-416457, a novel oxazolidinone, had modal MICs of 0.5 to 1 μg/ml for linezolid-susceptible staphylococci and enterococci, versus linezolid MICs for these organisms of 1 or 2 μg/ml. RWJ-416457 MICs for mutants with 23S rRNA mutations were 2 to 32 μg/ml, versus linezolid MICs of 8 to 64 μg/ml; actual values reflected the proportion of gene copies mutated.