julilili42/papers huggingface dataset:
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits
2010-09-16

Mental retardation affects 2-3% of the population and shows a high heritability.Neurodevelopmental disorders that include pronounced impairment in language and speech skills occur less frequently. For most cases, the molecular basis of mental retardation with or without speech and language disorder is unknown due to the heterogeneity of underlying genetic factors.We have used molecular karyotyping on 1523 patients with mental retardation to detect copy number variations (CNVs) including deletions or duplications. These studies revealed three heterozygous overlapping deletions solely affecting the forkhead box P1 (FOXP1) gene. All three patients had moderate mental retardation and significant language and speech deficits. Since our results are consistent with a de novo occurrence of these deletions, we considered them as causal although we detected a single large deletion including FOXP1 and additional genes in 4104 ancestrally matched controls. These findings are of interest with regard to the structural and functional relationship between FOXP1 and FOXP2. Mutations in FOXP2 have been previously related to monogenic cases of developmental verbal dyspraxia. Both FOXP1 and FOXP2 are expressed in songbird and human brain regions that are important for the developmental processes that culminate in speech and language.
Pelvic floor muscle training for stress urinary incontinence: A randomized, controlled trial comparing different conservative therapies
2010-09-16

Abstract Background and Purpose. Pelvic floor muscle training (PFMT) is an effective therapy for stress urinary incontinence (SUI). There is little and inconsistent data about different strategies of PFMT. Finding the right, patient‐oriented treatment decision seems to be essential in order to achieve good results in conservative management of SUI. It was the aim of this prospective randomized controlled trial (RCT) to compare three different strategies using electromyography (EMG) biofeedback‐assisted PFMT with and without electrical stimulation (ES) for treatment of SUI in women capable of voluntarily contracting the pelvic floor when a home‐training device with vaginal electrode was used. Method. Three‐arm RCT comparing 1) EMG biofeedback‐assisted PFMT and conventional ES; 2) EMG biofeedback‐assisted PFMT and dynamic ES; and 3) EMG biofeedback‐assisted PFMT. Primary outcome measures were quality of life (King's Health Questionnaire) and degree of suffering (rated on a visual analogue scale from 1 to 10). Secondary outcome measures were number of pads used, pad weight test, contractility of the pelvic floor measured by digital palpation and intra‐vaginal EMG. Results. The quality of life significantly increased over the 12‐week training. The number of pads used was reduced, the pad weight test and the contractility of the pelvic floor significantly improved. There were no significant differences between the three groups. Conclusion. This RCT shows significant improvement in patients' quality of life for conservative therapy of SUI. Differences between the three therapeutic options analyzed could not be found. Additional ES showed no benefit for patients with SUI, capable of voluntary pelvic floor contraction. Copyright © 2010 John Wiley &amp; Sons, Ltd.
Staphylococcal Major Autolysin (Atl) Is Involved in Excretion of Cytoplasmic Proteins
2010-09-17

Many microorganisms excrete typical cytoplasmic proteins into the culture supernatant. As none of the classical secretion systems appears to be involved, this type of secretion was referred to as "nonclassical protein secretion." Here, we demonstrate that in Staphylococcus aureus the major autolysin plays a crucial role in release of cytoplasmic proteins. Comparative secretome analysis revealed that in the wild type S. aureus strain, 22 typical cytoplasmic proteins were excreted into the culture supernatant, although in the atl mutant they were significantly decreased. The presence or absence of prophages had little influence on the secretome pattern. In the atl mutant, secondary peptidoglycan hydrolases were increased in the secretome; the corresponding genes were transcriptionally up-regulated suggesting a compensatory mechanism for the atl mutation. Using glyceraldehyde-3-phosphate dehydrogenase (GAPDH) as a cytoplasmic indicator enzyme, we showed that all clinical isolates tested excreted this protein. In the wall teichoic acid-deficient tagO mutant with its increased autolysis activity, GAPDH was excreted in even higher amounts than in the WT, confirming the importance of autolysis in excretion of cytoplasmic proteins. To answer the question of how discriminatory the excretion of cytoplasmic proteins is, we performed a two-dimensional PAGE of cytoplasmic proteins isolated from WT. Surprisingly, the most abundant proteins in the cytoplasm were not found in the secretome of the WT, suggesting that there exists a selection mechanism in the excretion of cytoplasmic proteins. As the major autolysin binds at the septum site, we assume that the proteins are preferentially released at and during septum formation.
Electronic Structure of Co-Phthalocyanine on Gold Investigated by Photoexcited Electron Spectroscopies: Indication of Co Ion−Metal Interaction
2010-09-17

The electronic properties of the interface between cobalt phthalocyanine and gold substrate were investigated by photoexcited electron spectroscopies (UPS, XPS, and XAES). The experimental data indicate a quite strong interaction between the organic molecules and the metallic substrate, which is concluded from the different shape of the XPS Co 2p and Co LVV Auger spectral lines, as well as a splitting of the HOMO in the UP spectra. Initial and final state effects in photoemission and a possible change of the crystal field symmetry at the interface are discussed.
Electromagnetic form factors of nucleons in the extended vector meson dominance model
2010-09-17

Extended vector meson dominance model, that allows to describe the electromagnetic form factors of nucleons obeying the asymptotic quark counting rule prescriptions and contains the minimal number of free parameters, is presented. We get a reasonable fit of form factors over experimentally available space-like region of momentum transfer and get also reasonable results in the time-like region.
Mutation pattern of lamivudine resistance in relation to hepatitis B genotypes: Hepatitis B genotypes differ in their lamivudine resistance associated mutation pattern
2010-09-17

Abstract Little is known about differences between individual hepatitis B genotypes and mutation patterns associated with lamivudine resistance. This study analyses the lamivudine‐associated mutation pattern in relation to the four major HBV genotypes A–D. The PubMed database was screened for keywords “HBV OR Hepatitis B,” “YMDD,” “genotype,” and “lamivudine”; all identified publications published till June 2009 were analyzed for differences in mutation pattern. To confirm the literature‐based findings the databases of two reference laboratories in Tübingen (Germany), and Melbourne (Australia) were analyzed. Twenty‐nine studies were identified reporting 827 patients with known hepatitis B genotype who underwent lamivudine treatment and developed resistance mutations. The literature data revealed that genotype A favors the rtM204V mutation unlike the other major genotypes ( P &lt; 0.001), which corresponds to a significant difference in the mutation pattern of genotypes endemic in Asian countries and those found in the rest of the world. These significant findings of the literature‐review could be reproduced in the analysis of the databases from Tübingen and Melbourne. Furthermore, the rtL180M mutation is significantly connected to the rtM204V mutation in genotypes A, B, and C, respectively. It is concluded that there is proof that HBV genotypes differ in their mutation pattern of lamivudine resistance. Future studies will need to evaluate whether this will translate into genotype‐specific differences in resistance emergence on either entecavir or telbivudine as these antivirals differ in their mutation profile, rtM204V for entecavir and rtM204I for telbivudine. J. Med. Virol. 82:1850–1858, 2010. © 2010 Wiley‐Liss, Inc.
Self-reference modulates the processing of emotional stimuli in the absence of explicit self-referential appraisal instructions
2010-09-18

Self-referential evaluation of emotional stimuli has been shown to modify the way emotional stimuli are processed. This study aimed at a new approach by investigating whether self-reference alters emotion processing in the absence of explicit self-referential appraisal instructions. Event-related potentials were measured while subjects spontaneously viewed a series of emotional and neutral nouns. Nouns were preceded either by personal pronouns ('my') indicating self-reference or a definite article ('the') without self-reference. The early posterior negativity, a brain potential reflecting rapid attention capture by emotional stimuli was enhanced for unpleasant and pleasant nouns relative to neutral nouns irrespective of whether nouns were preceded by personal pronouns or articles. Later brain potentials such as the late positive potential were enhanced for unpleasant nouns only when preceded by personal pronouns. Unpleasant nouns were better remembered than pleasant or neutral nouns when paired with a personal pronoun. Correlation analysis showed that this bias in favor of self-related unpleasant concepts can be explained by participants' depression scores. Our results demonstrate that self-reference acts as a first processing filter for emotional material to receive higher order processing after an initial rapid attention capture by emotional content has been completed. Mood-congruent processing may contribute to this effect.
Acoustic correlates of emotional dimensions in laughter: Arousal, dominance, and valence
2010-09-18

Although laughter plays an essential part in emotional vocal communication, little is known about the acoustical correlates that encode different emotional dimensions. In this study we examined the acoustical structure of laughter sounds differing along four emotional dimensions: arousal, dominance, sender's valence, and receiver-directed valence. Correlation of 43 acoustic parameters with individual emotional dimensions revealed that each emotional dimension was associated with a number of vocal cues. Common patterns of cues were found with emotional expression in speech, supporting the hypothesis of a common underlying mechanism for the vocal expression of emotions.
The Einstein Telescope: a third-generation gravitational wave observatory
2010-09-21

Advanced gravitational wave interferometers, currently under realization, will soon permit the detection of gravitational waves from astronomical sources. To open the era of precision gravitational wave astronomy, a further substantial improvement in sensitivity is required. The future space-based Laser Interferometer Space Antenna and the third-generation ground-based observatory Einstein Telescope (ET) promise to achieve the required sensitivity improvements in frequency ranges. The vastly improved sensitivity of the third generation of gravitational wave observatories could permit detailed measurements of the sources' physical parameters and could complement, in a multi-messenger approach, the observation of signals emitted by cosmological sources obtained through other kinds of telescopes. This paper describes the progress of the ET project which is currently in its design study phase
Hallmark Features of Immunosenescence Are Absent in Familial Longevity
2010-09-21

Abstract Seropositivity for CMV is one of the parameters of the “immune risk profile” associated with mortality in longitudinal studies of the very elderly and may accelerate immunosenescence. Thus, any genetic factors influencing human longevity may be associated with susceptibility to CMV and CMV-accelerated immunosenescence. To test this, we analyzed long-lived families in the Leiden Longevity Study (LLS) in which offspring enjoy a 30% reduced standardized mortality rate, possibly owing to genetic enrichment. Serum C-reactive protein levels and the frequency of different T cell subsets were compared between 97 LLS offspring and 97 controls (their partners, representing the normal population). We also determined the capacity of T cells to respond against immunodominant Ags from CMV in a smaller group of LLS subjects and controls. CMV infection was strongly associated with an age-related reduction in the frequency of naive T cells and an accumulation of CD45RA–re-expressing and late-differentiated effector memory T cells in the general population, but not in members of long-lived families. The latter also had significantly lower C-reactive protein levels, indicating a lower proinflammatory status compared with CMV-infected controls. Finally, T cells from a higher proportion of offspring mounted a proliferative response against CMV Ags, which was also of greater magnitude and broader specificity than controls. Our data suggest that these rare individuals genetically enriched for longevity are less susceptible to the characteristic CMV-associated age-driven immune alterations commonly considered to be hallmarks of immunosenescence, which might reflect better immunological control of the virus and contribute to their decreased mortality rate.
Does a low-pH microenvironment around phototrophic FeII-oxidizing bacteria prevent cell encrustation by FeIII minerals?
2010-09-21

Neutrophilic Fe(II) -oxidizing bacteria precipitate positively charged Fe(III) minerals that are expected to sorb to the negatively charged cell surface, leading to encrustation and thus limiting the cells' accessibility to substrates and nutrients. However, electron-microscopy analysis of phototrophic iron-oxidizing Thiodictyon sp. strain F4 cells showed no encrustation, but mineral precipitation at a distance from the cell surface. In situ fluorescence microscopy analysis of F4 cells using a pH-sensitive fluorescent dye revealed a low cell surface pH (6.0 ± 0.1) in contrast to the bulk pH (6.6 ± 0.1). Biogeochemical modeling showed that the pH difference reduces Fe(III) sorption and Fe(III) precipitation rates at the cell surface, therefore directing mineral formation away from the cells. The results from this study therefore suggest that the establishment of a low cell surface pH could provide a mechanism for photoferrotrophs to successfully prevent Fe(III) mineral precipitation on the cell surface.
System for dosing formaldehyde vapor at the ppb level
2010-09-21

Formaldehyde is one of the most relevant compounds for indoor air pollution. It is toxic, allergenic and carcinogenic and acts already at the ppb level. State-of-the-art detection methods are based on the wet chemical analysis of formaldehyde derivates. This is a complex and time-consuming approach and hinders the collection of real-time data. However, the use of wet chemistry allows for the simple calibration based on formalin solutions. By using gas sensors, online monitoring of indoor air quality is, in principle, possible. To find out whether their performance is good enough, calibration is the first issue to be resolved. Formaldehyde vapor at low concentrations has to be used, and temperature, humidity and flow rate have to be kept constant. This paper discusses the different possibilities of dosing formaldehyde and how to better meet the gas sensor calibration demands. The authors favor the use of an aqueous formaldehyde solution obtained by the depolymerization of paraformaldehyde in combination with a permeation tube used as external reference. Moreover, in the paper it is demonstrated that metal oxide sensors are appropriate detectors to calibrate the system for concentrations even down to 20 ppb. Consequently, the presented system is able to characterize gas sensors and can be used for the development of new devices which monitor indoor air quality.
Higher BDNF serum levels predict slower cognitive decline in Alzheimer's disease patients
2010-09-22

The neurotrophin brain-derived neurotrophic factor (BDNF) plays a critical role in neuronal survival, synaptic plasticity, and memory. Several recent studies have demonstrated altered BDNF serum levels in Alzheimer's disease (AD) patients. However, the association of BDNF serum levels with the rate of cognitive decline in AD patients is still unclear. We demonstrate that BDNF serum levels are significantly decreased in AD patients with fast cognitive decline [decrease of Mini-Mental State Examination (MMSE) score >4/yr; n=12] compared to AD patients with slow cognitive decline (decrease of MMSE score ≤4/yr, n=28) and show a significant correlation with the rate of cognitive decline during 1 yr follow-up. These results suggest that higher BDNF serum levels are associated with a slower rate of cognitive decline in AD patients. Further longitudinal studies are necessary to elucidate the kinetics and the potential role of serum BDNF as a surrogate marker of disease progression in AD patients.
Quasinormal modes, bifurcations, and nonuniqueness of charged scalar-tensor black holes
2010-09-23

In the present paper we study the scalar sector of the quasinormal modes of\\ncharged general relativistic, static and spherically symmetric black holes\\ncoupled to nonlinear electrodynamics and embedded in a class of scalar-tensor\\ntheories. We find that for certain domain of the parametric space there exist\\nunstable quasinormal modes. The presence of instabilities implies the existence\\nof scalar-tensor black holes with primary hair that bifurcate from the embedded\\ngeneral relativistic black-hole solutions at critical values of the parameters\\ncorresponding to the static zero-modes. We prove that such scalar-tensor black\\nholes really exist by solving the full system of scalar-tensor field equations\\nfor the static, spherically symmetric case. The obtained solutions for the\\nhairy black holes are non-unique and they are in one to one correspondence with\\nthe bounded states of the potential governing the linear perturbations of the\\nscalar field. The stability of the non-unique hairy black holes is also\\nexamined and we find that the solutions for which the scalar field has zeros\\nare unstable against radial perturbations. The paper ends with a discussion on\\npossible formulations of a new classification conjecture.\\n
Highly Pathogenic Influenza Virus Infection of the Thymus Interferes with T Lymphocyte Development
2010-09-23

Abstract Highly pathogenic avian influenza viruses (HPAIVs) cause severe disease in humans. Still, the basis for their increased pathogenesis remains unclear. Additionally, the high morbidity in the younger population stays inexplicable, and the recent pandemic H1N1v outbreak in 2009 demonstrated the urgent need for a better understanding about influenza virus infection. In the present study, we demonstrated that HPAIV infection of mice not only led to lung destruction but also to functional damage of the thymus. Moreover, respiratory dendritic cells in the lung functioned as targets for HPAIV infection being able to transport infectious virus from the lung into the thymus. The pandemic H1N1 influenza virus was able to infect respiratory dendritic cells without a proper transport to the thymus. The strong interference of HPAIV with the immune system is especially devastating for the host and can lead to lymphopenia. In summary, from our data, we conclude that highly pathogenic influenza viruses are able to reach the thymus via dendritic cells and to interfere with T lymphocyte development. Moreover, this exceptional mechanism might not only be found in influenza virus infection, but also might be the reason for the increased immune evasion of some new emerging pathogens.
PPARγ-Dependent Regulation of Adenylate Cyclase 6 Amplifies the Stimulatory Effect of cAMP on Renin Gene Expression
2010-09-23

The second messenger cAMP plays an important role in the regulation of renin gene expression. Nuclear receptor peroxisome proliferator-activated receptor-γ (PPARγ) is known to stimulate renin gene transcription acting through PPARγ-binding sequences in renin promoter. We show now that activation of PPARγ by unsaturated fatty acids or thiazolidinediones drastically augments the cAMP-dependent increase of renin mRNA in the human renin-producing cell line Calu-6. The underlying mechanism involves potentiation of agonist-induced cAMP increase and up-regulation of adenylate cyclase 6 (AC6) gene expression. We identified a palindromic element with a 3-bp spacer (Pal3) in AC6 intron 1 (AC6Pal3). AC6Pal3 bound PPARγ and mediated trans-activation by PPARγ agonist. AC6 knockdown decreased basal renin mRNA level and attenuated the maximal PPARγ-dependent stimulation of the cAMP-induced renin gene expression. AC6Pal3 decoy oligonucleotide abrogated the PPARγ-dependent potentiation of cAMP-induced renin gene expression. Treatment of mice with PPARγ agonist increased AC6 mRNA kidney levels. Our data suggest that in addition to its direct effect on renin gene transcription, PPARγ "sensitizes" renin gene to cAMP via trans-activation of AC6 gene. AC6 has been identified as PPARγ target gene with a functional Pal3 sequence.
Six-year follow-up of patients with functional bowel disorders, with and without previous psychotherapy
2010-09-23

Introduction: Long-term follow-up studies in patients with functional bowel disorders are rare. Methods: Of 85 patients with functional bowel disorders diagnosed in 2000, forty-eight patients responded to a postal questionnaire 6 years later (2006). Results: Gastrointestinal symptom severity was similar to that at the initial diagnosis. Anxiety and depression (HADS) were significantly decreased, however, depending on previous psychotherapy (PT) experience. Men but not women that had participated in PT exhibited reduced symptoms more pronounced than did patients without PT. Discussion: Anxiety and depression may determine consulting behaviour, but this appears unrelated to intestinal symptoms and their severity. Short-term PT contributes to long-term well-being especially in men.
Low-lying baryon decays in the3P0quark model
2010-09-23

The N? and N? decay widths of low-lying baryons are evaluated in the 3P0 quark model with all model parameters previously determined by other processes. In accord with the assumption that all baryons in question are made of three quarks, the effective coupling strength of the 3P0 vertex is determined by the decay processes of the ?(1385) baryons, which couple weakly to the ??, ?? and channels via P-wave and are likely to be 3q dominant particles. The predicted decay width of the ?(1405) is fairly consistent with the experimental data, which makes it uncomfortable to single out this particle from other low-lying baryons. The decay widths of the N(1440) and ?(1600) baryons are predicted much larger than experimental data.
Global effects of the small RNA biogenesis machinery on the Arabidopsis thaliana transcriptome
2010-09-24

In Arabidopsis thaliana , four different dicer-like (DCL) proteins have distinct but partially overlapping functions in the biogenesis of microRNAs (miRNAs) and siRNAs from longer, noncoding precursor RNAs. To analyze the impact of different components of the small RNA biogenesis machinery on the transcriptome, we subjected dcl and other mutants impaired in small RNA biogenesis to whole-genome tiling array analysis. We compared both protein-coding genes and noncoding transcripts, including most pri-miRNAs, in two tissues and several stress conditions. Our analysis revealed a surprising number of common targets in dcl1 and dcl2 dcl3 dcl4 triple mutants. Furthermore, our results suggest that the DCL1 is not only involved in miRNA action but also contributes to silencing of a subset of transposons, apparently through an effect on DNA methylation.