Miracle-dz/UniFAR-FTUs huggingface dataset:
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6

Pseudoxanthoma elasticum (PXE) is a systemic heritable disorder that affects the elastic tissue in the skin, eye, and cardiovascular system. Mutations in the ABCC6 gene cause PXE. We performed a mutation screen in ABCC6 using haplotype analysis in conjunction with direct sequencing to achieve a mutation detection rate of 97%. This screen consisted of 170 PXE chromosomes in 81 families, and detected 59 distinct mutations (32 missense, eight nonsense, and six likely splice‐site point mutations; one small insertion; and seven small and five large deletions). Forty‐three of these mutations are novel variants, which increases the total number of PXE mutations to 121. While most mutations are rare, three nonsense mutations, a splice donor site mutation, and the large deletion comprising exons 23–29 (c.2996_4208del) were identified as relatively frequent PXE mutations at 26%, 5%, 3.5%, 3%, and 11%, respectively. Chromosomal haplotyping with two proximal and two distal polymorphic markers flanking ABCC6 demonstrated that most chromosomes that carry these relatively frequent PXE mutations have related haplotypes specific for these mutations, which suggests that these chromosomes originate from single founder mutations. The types of mutations found support loss‐of‐function as the molecular mechanism for the PXE phenotype. In 76 of the 81 families, the affected individuals were either homozygous for the same mutation or compound heterozygous for two mutations. In the remaining five families with one uncovered mutation, affecteds showed allelic compound heterozygosity for the cosegregating PXE haplotype. This demonstrates pseudo‐dominance as the relevant inheritance mechanism, since disease transmission to the next generation always requires one mutant allelic variant from each parent. In contrast to other previous clinical and molecular claims, our results show evidence only for recessive PXE. This has profound consequences for the genetic counseling of families with PXE. Hum Mutat 26(3), 235–248, 2005. © 2005 Wiley‐Liss, Inc.
Why Induction Matters

Retention of a competent teaching force is a growing concern among the nation’s educators and policy makers. Providing new teachers with quality induction programs may mitigate significant teacher attrition and teacher staffing issues now facing many school districts in the United States. This article reports positive results in the long-term retention of novice teachers who participated in an induction partnership jointly administered by the University of Colorado and six school districts. The study tracks 10 cohorts of inductees into their 5th year of teaching and researches components of the program that impact retention. The article also describes program characteristics— initially developed from prior research and refined by data from ongoing program evaluations— that have proven effective in raising teacher competence and retention rates. Finally, the author suggests how this induction research might inform the decisions of local and national policy makers.
Sequence Change and Phylogenetic Signal in Muscoid COII DNA Sequences

The complete DNA sequence of the mtDNA cytochrome oxidase II gene from house fly, Musca domestica, face fly, Musca autumnalis, stable fly, Stomoxys calcitrans, horn fly, Haematobia irritans, and black garbage fly, Hydrotaea aenescens, are reported. The nucleotide sequence codes for a 229 amino acid peptide. The COII sequence is A+T rich (74.1%), with up to 12.3% nucleotide and 8.4% amino acid divergence among the five taxa. Of the 688 nucleotides encoding for the gene, 135 nucleotide sites (19.6%) are variable, and 55 (8.0%) are phylogenetically informative. A phylogenetic analysis using three calliphorids as the outgroup taxa, indicates that the two haematophagus species, horn fly and stable fly, form a sister group.
Strategic Alignment: Leveraging Information Technology for Transforming Organizations

It is cleaaar that eventhough information technology (I/T) has evolved form its traditional orientation of administrative support toward a more strategic role within an organization, there is still a glaring lack of fundamental frameworks within which to understand the potential of I/T for tomorrow's organizations. In this paper, we develop a model for conceptualizing and directing the emerging area of strategic management of information technology. This model, termed the Strategic Allgnment Model, is defined in terms of four fundamental domains of strategic choice: business strategy, information technology strategy, organlzational infrastructure and processes, and information technology Infrastuvture and processes--each with its own underlying dimenslons. We illustrate the power of this model in terms of two fundamental characteristics fo strategic management: strategic fit (the interrelationships between external and internal components) and functional Integration (integration between business and functional domains). More specifically, we derive foru perspectives for gulding management practice in this Important area.
Effects of cognitive bias modification on social anxiety: A meta-analysis

Background Cognitive bias modification (CBM), a set of techniques for modifying bias in information processing—is considered a novel intervention for social anxiety disorder (SAD), which has drawn considerable interest from researchers. However, the effects of CBM on SAD are not consistent. Some studies have demonstrated significant positive effects compared to control groups, while others have found no such effects. Aims We conducted a meta-analysis aimed at quantitatively assessing the effects of CBM on SAD at post-test. Method Through a systematic literature search by two independent raters, 34 articles (36 randomized studies) including 2,550 participants were identified. A multilevel modeling approach was employed to assess the effects of CBM on SAD, and to explore the potentially crucial procedures and sample characteristics that enhance the effectiveness of benign training. Results In general, there were small but significant effects of CBM on the primary symptoms of SAD (g = 0.17), cognitive bias (CB) toward threat (g = 0.32), and reactivity in stressful situations (g = 0.25), but non-significant effects on secondary symptoms. However, the interpretation modification program was more effective than was attentional bias modification in reducing SAD primary symptoms and negative CB. Laboratory training procedures produced larger primary symptom reductions compared to Internet-based training, whereas the percentage of contingency and feedback about training performance boosted cognitive effects only. Finally, the following groups were more likely to benefit from CBM: younger participants (primary symptoms and cognitive effects), women (primary symptom effects), and samples with stronger CB (stressor effects). The quality of the randomized controlled trials was less than desirable, as there was some indication of publication bias in our study. Conclusions Current findings broadly supported cognitive theories of SAD that consider a bidirectional or mutually reinforcing relationship between symptoms and CBs. However, the small therapeutic effect observed here indicates that it is necessary to develop more reliable and efficient CBM interventions that are specific to SAD.
Hypoxia enhances CXCR 4 expression in human microvascular endothelial cells and human melanoma cells

The influence of environmental factors (cytokines, matrix components, serum factors and O2 level) on expression of receptors for angiogenic versus angiostatic CXC chemokines in human microvascular endothelial cells has not been extensively investigated. Our semi-quantitative RT-PCR analysis demonstrated that TNF-a and IFN-c repressed CXCR4 mRNA levels in immortalized human microvascular endothelial HMEC-1 cells after 4 h, whereas only TNF-a displayed inhibitory activity in primary human microvascular endothelial cells (HMVEC). CXCR4 mRNA expression was not affected by VEGF, GM-CSF, IL-1b or various basal membrane matrix components, but was significantly up-regulated after serum starvation and/or hypoxic treatment of the microvascular endothelial cells. The alternative CXCL12 receptor, CXCR7/RDC1, was also up-regulated by hypoxia in HMEC-1 cells, although less consistently than CXCR4. Furthermore, hypoxia and serum starvation were required for cell surface display of CXCR4 and CXCL12 induction of ERK activation in HMEC-1 cells. In contrast, CXCR2 and CXCR3 mRNA levels remained, respectively, low and undetectable under all the conditions tested, and surface expression of CXCR2, CXCR3 and CXCR7 on the HMEC1 cells could not be demonstrated by FACS. In the human SK-MEL-5 melanoma cell line, CXCR4 mRNA expression was also increased under hypoxic conditions, whereas CXCR2 mRNA levels remained low and levels of CXCR3 and CXCR7 were undetectable. However, immunohistochemical staining of human metastatic melanoma sections demonstrated that CXCR2, CXCR3, CXCR4 and CXCR7 are expressed on tumor cells and, to a lesser extent, on endothelial cells. These results demonstrate that the tumor microenvironment regulates chemokine receptor expression through both cytokine and oxygen levels.
Macrophages promote benzopyrene-induced tumor transformation of human bronchial epithelial cells by activation of NF-κB and STAT3 signaling in a bionic airway chip culture and in animal models

We investigated the role of macrophages in promoting benzopyrene (BaP)-induced malignant transformation of human bronchial epithelial cells using a BaP-induced tumor transformation model with a bionic airway chip in vitro and in animal models. The bionic airway chip culture data showed that macrophages promoted BaP-induced malignant transformation of human bronchial epithelial cells, which was mediated by nuclear factor (NF)-κB and STAT3 pathways to induce cell proliferation, colony formation in chip culture, and tumorigenicity in nude mice. Blockage of interleukin (IL)-6 or tumor necrosis factor (TNF)-α signaling or inhibition of NF-κB, STAT3, or cyclinD1 expression abrogated the effect of macrophages on malignant transformation in the bionic airway chip culture. In vivo, macrophages promoted lung tumorigenesis in a carcinogen-induced animal model. Similarly, blockage of NF-κB, STAT3, or cyclinD1 using siRNA transfection decreased the carcinogen-induced tumorigenesis in rats. We demonstrated that macrophages are critical in promoting lung tumorigenesis and that the macrophage-initiated TNF-α/NF-κB/cyclinD1 and IL-6/STAT3/cyclinD1 pathways are primarily responsible for promoting lung tumorigenesis.
Two-wire nuisance attribute projection

This paper addresses the task of nuisance reduction in two-wire speaker recognition applications. Besides channel mismatch, two-wire conversations are contaminated by extraneous speakers which represent an additional source of noise in the supervector domain. It is shown that two-wire nuisance manifests itself as undesirable directions in the inter-speaker subspace. For this purpose, we derive two alternative Nuisance Attribute Projection (NAP) formulations tailored for two-wire sessions. The first formulation generalizes the NAP framework based on a model of two-wire conversations. The second formulation explicitly models the four- vs. two-wire supervector variability. Preliminary experiments show that two-wire NAP significantly outperforms regular NAP in varied two-wire tasks.
Local Glutamate Level Dictates Adenosine A2A Receptor Regulation of Neuroinflammation and Traumatic Brain Injury

During brain injury, extracellular adenosine and glutamate levels increase rapidly and dramatically. We hypothesized that local glutamate levels in the brain dictates the adenosine–adenosine A2A receptor (A2AR) effects on neuroinflammation and brain damage outcome. Here, we showed that, in the presence of low concentrations of glutamate, the A2AR agonist 3-[4-[2-[[6-amino-9-[(2R,3R,4S,5S)-5-(ethylcarbamoyl)-3,4-dihydroxy-oxolan-2-yl]purin-2-yl]amino]ethyl]phenyl]propanoic acid (CGS21680) inhibited lipopolysaccharide (LPS)-induced nitric oxide synthase (NOS) activity of cultured microglial cells, an effect that was dependent on the protein kinase A (PKA) pathway. However, in high concentrations of glutamate, CGS21680 increased LPS-induced NOS activity in a protein kinase C (PKC)-dependent manner. Thus, increasing the local level of glutamate redirects A2AR signaling from the PKA to the PKC pathway, resulting in a switch in A2AR effects from antiinflammatory to proinflammatory. In a cortical impact model of traumatic brain injury (TBI) in mice, brain water contents, behavioral deficits, and expression of tumor necrosis factor-α, interleukin-1 mRNAs, and inducible NOS were attenuated by administering CGS21680 at post-TBI time when brain glutamate levels were low, or by administering the A2AR antagonist ZM241385 [4-(2-{[5-amino-2-(2-furyl)[1,2,4]triazolo[1,5-a][1,3,5]triazin-7-yl]amino}ethyl)phenol] at post-TBI time when brain glutamate levels were elevated. Furthermore, pre-TBI treatment with the glutamate release inhibitor (S)-4C3HPG [(S)-4-carboxy-3-hydroxyphenylglycine] converted the debilitating effect of CGS21680 administered at post-TBI time with high glutamate level to a neuroprotective effect. This further indicates that the switch in the effect of A2AR activation in intact animals from antiinflammatory to proinflammatory is dependent on glutamate concentration. These findings identify a novel role for glutamate in modulation of neuroinflammation and brain injury via the adenosine–A2AR system.
Increased Risk of Falling in Older Community-Dwelling Women With Mild Cognitive Impairment

Background: Falls are a major health care problem for older people and are associated with cognitive dysfunction. Mild cognitive impairment (MCI) is an increasingly recognized clinical problem. No study has comprehensively compared people with and without MCI for fall risk factors in both the physiological and cognitive domains. Objective: The purpose of this cross-sectional study was to comprehensively compare fall risk factors in community-dwelling older women with and without MCI. Design: A cross-sectional design was used in the study. Methods: Community-dwelling women (N=158) with Folstein Mini Mental State Examination scores of ≥24 participated in the study. The Montreal Cognitive Assessment (MoCA) was used to categorize participants as either having or not having MCI. Each participant's fall risk profile was assessed with the Physiological Profile Assessment (PPA). Three central executive functions were assessed: (1) set shifting was assessed with the Trail Making Test (part B), (2) updating (ie, working memory) was assessed with the Verbal Digits Backward Test, and (3) response inhibition was assessed with the Stroop Colour-Word Test. Results: Both the composite PPA score and its subcomponent, postural sway performance, were significantly different between the 2 groups; participants with MCI had higher composite PPA scores and greater postural sway compared with participants without MCI. Participants with MCI performed significantly worse on all 3 central executive function tests compared with participants without MCI. Limitations: A screening tool was used to categorize participants as having MCI, and fall risk factors were compared rather than the actual incidence of falls. Conclusions: Fall risk screening may be prudent in older adults with MCI.
DNA barcoding the floras of biodiversity hotspots

DNA barcoding is a technique in which species identification is performed by using DNA sequences from a small fragment of the genome, with the aim of contributing to a wide range of ecological and conservation studies in which traditional taxonomic identification is not practical. DNA barcoding is well established in animals, but there is not yet any universally accepted barcode for plants. Here, we undertook intensive field collections in two biodiversity hotspots (Mesoamerica and southern Africa). Using >1,600 samples, we compared eight potential barcodes. Going beyond previous plant studies, we assessed to what extent a “DNA barcoding gap” is present between intra- and interspecific variations, using multiple accessions per species. Given its adequate rate of variation, easy amplification, and alignment, we identified a portion of the plastid matK gene as a universal DNA barcode for flowering plants. Critically, we further demonstrate the applicability of DNA barcoding for biodiversity inventories. In addition, analyzing >1,000 species of Mesoamerican orchids, DNA barcoding with matK alone reveals cryptic species and proves useful in identifying species listed in Convention on International Trade of Endangered Species (CITES) appendixes.
One‐Dimensional Conducting Polymer Nanostructures: Bulk Synthesis and Applications

This Progress Report provides a brief overview of current research activities in the field of one‐dimensional (1D) conducting polymer nanostructures. The synthesis, properties, and applications of these materials are outlined with a strong emphasis on recent literature examples. Chemical methods that can produce 1D nanostructures in bulk quantities are discussed in the context of two different strategies: 1) procedures that rely on a nanoscale template or additive not inherent to the polymer and 2) those that do not. The different sub‐classifications of these two strategies are delineated and the virtues and vices of each area are discussed. Following this discussion is an outline of the properties and applications of 1D conducting polymer nanostructures. This section focuses on applications in which nanostructured conducting polymers are clearly advantageous over their conventional counterparts. We conclude with our perspective on the main challenges and future research directions for this new class of nanomaterials. This Progress Report is not intended as a comprehensive review of the field, but rather a summary of select contributions that we feel will provide the reader with a strong basis for further investigation into this fast emerging field.
Speaker State Classification Based on Fusion of Asymmetric SIMPLS and Support Vector Machines

This paper describes a Speaker State Classification System (SSCS) for the INTERSPEECH 2011 Speaker State Challenge. Our SSC system for the Intoxication and Sleepiness SubChallenges uses fusion of several individual sub-systems. We make use of three standard feature sets per corpus given by organizers. Modeling is based on our own developed classification method - Asymmetric simple partial least squares (ASIMPLS) and Support Vector Machines (SVMs), followed by the calibration and multiple fusion methods. The advantage of asymmetric SIMPLS is prone to protect the minority class from being misclassified and boosts the performance on the majority class. Our experimental results show that our SSC system performs better than baseline system. Our final fusion results in 1:8% absolute improvement on the unweighted accuracy value for the Alcohol Language Corpus (ALC) and about 0:7% for the Sleepy Language Corpus (SLC) on the development set over the baseline. On the test set, we obtain 1:1% and 1:4% absolute improvement, respectively. Index Terms: Speaker State Challenge, Asymmetric SIMPLS, SVMs, Fusion, Intoxication, Sleepiness
A Representation of Relationships in Temporal Spaces

Time is probably one of the most essential and paradoxical concepts that human beings face. Time is always present in our everyday life from the perception of events to the development of human thinking behaviours. However, time is still a difficult concept to describe and formalise as it has no obvious physical characteristics and properties. We can only establish a temporal statement from the observation or prevision of changes. The relationship between time and space is a consequence of the observation of changes as the perception of spatial alterations denotes the existence of time. The representation of time within Geographical Information Systems (GIS) is still an important and expected development to make these systems more suited to the temporal analysis of real-world phenomena. Over the past years, the representation of spatio-temporal data has been extensively discussed by different research communities such as the Artificial Intelligence domain that provides a mathematical foundation to the representation of changes in space (Vieu, 1997), temporal database approaches that develop database models and query languages for the description and manipulation of spatio-temporal objects (Wu et al., 1997) and studies oriented to the temporal extension of current spatial data models within GIS This chapter proposes a new reasoning and computational approach that integrates space and time within an integrated temporal space referential. The principles underlying temporal spaces are derived from time geography concepts, spatial and temporal reasoning formalisms. A set of minimal relationships and configurations in a temporal space are identified from the possible combinations of relationships in time and geographical space. Such a model allows the representation and computational study of independent trajectories in space and time. The algebra is illustrated with a case study that outlines some potential benefits of the temporal space model. The remainder of this chapter is organised as follows. The next section briefly reviews current approaches in the combined representation of space and time. Then we introduce temporal and spatial relationships used for the development of our model. The following sections develop the concept of temporal space, propose a formal model for representing relationships in a temporal space, and illustrate the application of the
DROPWISE CONDENSATION LIFE TESTING OF SELF ASSEMBLED MONOLAYERS

The increasing thermal demand of electronics devices has pushed the limits of current two-phase thermal technologies such as heat pipes and vapor chambers. The most obvious area for thermal improvement is centered around the high heat flux generating chips including improved evaporators, thermal interfaces, etc. However, heat fluxes in the sink/condensing regions have also risen as the size of electronics packages has decreased. One way to reduce the thermal resistance associated with condensation is to promote dropwise condensation. In previous work, the condensation performance improvement using self-assembled monolayer coated surfaces (to promote hydrophobicity) has been shown. However, the question of the life of the self-assembled monolayer coatings needs to be addressed before the technology is adopted, as this has plagued other dropwise condensation coatings in the past. Presented here is a general use of self-assembled monolayer coatings to promote dropwise condensation in electronics device applications, including a summary of recent work regarding dropwise condensation on gradient surfaces. Also presented is experimental data from a life test of selfassembled monolayers on copper and gold plated surfaces. In the life test, the surfaces have been continuously exposed to saturated steam at 60°C. Both surfaces have continued to promote dropwise condensation for over 9 months under conditions representative of heat pipe electronics cooling applications. BACKGROUND