WNT5A Mutations in Patients With Autosomal Dominant Robinow Syndrome

Robinow syndrome is a skeletal dysplasia with both autosomal dominant and autosomal recessive inheritance patterns. It is characterized by short stature, limb shortening, genital hypoplasia, and craniofacial abnormalities. The etiology of dominant Robinow syndrome is unknown; however, the phenotypically more severe autosomal recessive form of Robinow syndrome has been associated with mutations in the orphan tyrosine kinase receptor, ROR2, which has recently been identified as a putative WNT5A receptor. Here, we show that two different missense mutations in WNT5A, which result in amino acid substitutions of highly conserved cysteines, are associated with autosomal dominant Robinow syndrome. One mutation has been found in all living affected members of the original family described by Meinhard Robinow and another in a second unrelated patient. These missense mutations result in decreased WNT5A activity in functional assays of zebrafish and Xenopus development. This work suggests that a WNT5A/ROR2 signal transduction pathway is important in human craniofacial and skeletal development and that proper formation and growth of these structures is sensitive to variations in WNT5A function. Developmental Dynamics 239:327-337, 2010. (C) 2009 Wiley-Liss, Inc.

Interaction of Mycoplasma genitalium with host cells: evidence for nuclear localization

Mycoplasma genitalium (Mg) is a mollicute that causes a range of human urogenital infections. A hallmark of these bacteria is their ability to establish chronic infections that can persist despite completion of appropriate antibiotic therapies and intact and functional immune systems. Intimate adherence and surface colonization of mycoplasmas to host cells are important pathogenic features. However, their facultative intracellular nature is poorly understood, partly due to difficulties in developing and standardizing cellular interaction model systems. Here, we characterize growth and invasion properties of two Mg strains (G37 and 1019V). Mg G37 is a high-passage laboratory strain, while Mg 1019V is a low-passage isolate recovered from the cervix. The two strains diverge partially in gene sequences for adherence-related proteins and exhibit subtle variations in their axenic growth. However, with both strains and consistent with our previous studies, a subset of adherent Mg organisms invade host cells and exhibit perinuclear targeting. Remarkably, intranuclear localization of Mg proteins is observed, which occurred as early as 30 min after infection. Mg strains deficient in adherence were markedly reduced in their ability to invade and associate with perinuclear and nuclear sites.

On the variations of the Betti numbers of regular levels of Morse flows

We generalize results in Cruz and de Rezende (1999) [7] by completely describing how the Beth numbers of the boundary of an orientable manifold vary after attaching a handle, when the homology coefficients are in Z, Q, R or Z/pZ with p prime. First we apply this result to the Conley index theory of Lyapunov graphs. Next we consider the Ogasa invariant associated with handle decompositions of manifolds. We make use of the above results in order to obtain upper bounds for the Ogasa invariant of product manifolds. (C) 2011 Elsevier B.V. All rights reserved.

Enhanced visualization of histological samples with an adjustable RGB contrast system with application for tissue used in photodynamic therapy

The analysis of histological sections has long been a valuable tool in the pathological studies. The interpretation of tissue conditions, however, relies directly on visual evaluation of tissue slides, which may be difficult to interpret because of poor contrast or poor color differentiation. The Chromatic Contrast Visualization System (CCV) combines an optical microscope with electronically controlled light-emitting diodes (LEDs) in order to generate adjustable intensities of RGB channels for sample illumination. While most image enhancement techniques rely on software post-processing of an image acquired under standard illumination conditions, CCV produces real-time variations in the color composition of the light source itself. The possibility of covering the entire RGB chromatic range, combined with the optical properties of the different tissues, allows for a substantial enhancement in image details. Traditional image acquisition methods do not exploit these visual enhancements which results in poorer visual distinction among tissue structures. Photodynamic therapy (PDT) procedures are of increasing interest in the treatment of several forms of cancer. This study uses histological slides of rat liver samples that were induced to necrosis after being exposed to PDT. Results show that visualization of tissue structures could be improved by changing colors and intensities of the microscope light source. PDT-necrosed tissue samples are better differentiated when illuminated with different color wavelengths, leading to an improved differentiation of cells in the necrosis area. Due to the potential benefits it can bring to interpretation and diagnosis, further research in this field could make CCV an attractive technique for medical applications.

Atmospheric effects on extensive air showers observed with the surface detector of the Pierre Auger observatory

Atmospheric parameters, Such as pressure (P), temperature (T) and density (rho proportional to P/T), affect the development of extensive air showers initiated by energetic cosmic rays. We have Studied the impact of atmospheric variations on extensive air showers by means of the surface detector of the Pierre Auger Observatory. The rate of events shows a similar to 10% seasonal modulation and similar to 2% diurnal one. We find that the observed behaviour is explained by a model including the effects associated with the variations of P and rho. The former affects the longitudinal development of air showers while the latter influences the Moliere radius and hence the lateral distribution of the shower particles. The model is validated with full simulations of extensive air showers using atmospheric profiles measured at the site of the Pierre Auger Observatory. (C) 2009 Elsevier B.V. All rights reserved.

Holocene fires in East Amazonia (Caraja`s), new evidences, chronology and relation with paleoclimate

Past studies have evidenced the presence of charcoal in soils and lacustrine sediments of Amazonia region and suggested occurrences of widespread fires during the Middle Holocene. However, the available records do not indicate the changes in fire regime with enough time resolution. We quantified charcoal fragments in lacustrine sediments in a lake of North Carajas plateau in East Amazonia (5 degrees 50`-6 degrees 35`S and 49 degrees 30`-52 degrees 00`W). The charcoal quantification was compared to other sediment proxies, allowing a connection between paleofires and climate changes. Large variations in sediment characteristics led to distinct stages of sedimentation. From 11,800 (base of CSN 93/4) to 4750 cal yr B.P., low accumulation rates of organic matter are observed. Between 7600 cal yr B.P. (base of CSN 93/3 core) and 4750 cal yr B.P., this initial phase of sedimentation is characterized by low chlorophyll derivate accumulation rates and high accumulation rates of Botryococcus braunii, an alga resistant to episodic drought. The first phase of sedimentation would therefore correspond to, a low take level and a drier climate than today. Large biomass burning events occurred between 7450 cal yr B.P. and 4750 cal yr B.P., as indicated by the high charcoal particle concentration. From 4750 cal yr B.P. to 2800 cal yr B.P., accumulation rates of charcoal particles decreased, and the accumulation rate of chlorophyll derivate was low. From 2800 cal yr B.P. to 1300 cal yr B.P., the charcoal accumulation rates reached their lowest values in the core and a rapid increase in lacustrine production is evidenced by the increase in chlorophyll derivates and carbon accumulation rate. From 1300 cal yr B.P. to the last century, the charcoal accumulation rates increased. During the most recent period, the record is characterized by high accumulation rates of chlorophyll derivates while the charcoal particle accumulation rate decreased. This region is still unaffected by the current increase of anthropogenic fires. (c) 2007 Elsevier B.V. All rights reserved.

Performance evaluation of routing protocols for MANETs with known connectivity patterns using evolving graphs

The assessment of routing protocols for mobile wireless networks is a difficult task, because of the networks` dynamic behavior and the absence of benchmarks. However, some of these networks, such as intermittent wireless sensors networks, periodic or cyclic networks, and some delay tolerant networks (DTNs), have more predictable dynamics, as the temporal variations in the network topology can be considered as deterministic, which may make them easier to study. Recently, a graph theoretic model-the evolving graphs-was proposed to help capture the dynamic behavior of such networks, in view of the construction of least cost routing and other algorithms. The algorithms and insights obtained through this model are theoretically very efficient and intriguing. However, there is no study about the use of such theoretical results into practical situations. Therefore, the objective of our work is to analyze the applicability of the evolving graph theory in the construction of efficient routing protocols in realistic scenarios. In this paper, we use the NS2 network simulator to first implement an evolving graph based routing protocol, and then to use it as a benchmark when comparing the four major ad hoc routing protocols (AODV, DSR, OLSR and DSDV). Interestingly, our experiments show that evolving graphs have the potential to be an effective and powerful tool in the development and analysis of algorithms for dynamic networks, with predictable dynamics at least. In order to make this model widely applicable, however, some practical issues still have to be addressed and incorporated into the model, like adaptive algorithms. We also discuss such issues in this paper, as a result of our experience.

Versatile microanalytical system with porous polypropylene capillary membrane for calibration gas generation and trace gaseous pollutants sampling applied to the analysis of formaldehyde, formic acid, acetic acid and ammonia in outdoor air

The analytical determination of atmospheric pollutants still presents challenges due to the low-level concentrations (frequently in the mu g m(-3) range) and their variations with sampling site and time In this work a capillary membrane diffusion scrubber (CMDS) was scaled down to match with capillary electrophoresis (CE) a quick separation technique that requires nothing more than some nanoliters of sample and when combined with capacitively coupled contactless conductometric detection (C(4)D) is particularly favorable for ionic species that do not absorb in the UV-vis region like the target analytes formaldehyde formic acid acetic acid and ammonium The CMDS was coaxially assembled inside a PTFE tube and fed with acceptor phase (deionized water for species with a high Henry s constant such as formaldehyde and carboxylic acids or acidic solution for ammonia sampling with equilibrium displacement to the non-volatile ammonium ion) at a low flow rate (8 3 nLs(-1)) while the sample was aspirated through the annular gap of the concentric tubes at 25 mLs(-1) A second unit in all similar to the CMDS was operated as a capillary membrane diffusion emitter (CMDE) generating a gas flow with know concentrations of ammonia for the evaluation of the CMDS The fluids of the system were driven with inexpensive aquarium air pumps and the collected samples were stored in vials cooled by a Peltier element Complete protocols were developed for the analysis in air of NH(3) CH(3)COOH HCOOH and with a derivatization setup CH(2)O by associating the CMDS collection with the determination by CE-C(4)D The ammonia concentrations obtained by electrophoresis were checked against the reference spectrophotometric method based on Berthelot s reaction Sensitivity enhancements of this reference method were achieved by using a modified Berthelot reaction solenoid micro-pumps for liquid propulsion and a long optical path cell based on a liquid core waveguide (LCW) All techniques and methods of this work are in line with the green analytical chemistry trends (C) 2010 Elsevier B V All rights reserved

Sample stacking in CZE using dynamic thermal junctions II: Analytes with high dpK(a)/dT crossing a single thermal junction in a BGE with low dpH/dT

In a previous work [M. Mandaji, et al., this issue] a sample stacking method was theoretically modeled and experimentally demonstrated for analytes with low dpK(a)/dT (analytes carrying carboxylic groups) and BGEs with high dpH/dT (high pH-temperature-coefficients). In that work, buffer pH was modulated with temperature, inducing electrophoretic mobility changes in the analytes. In the present work, the opposite conditions are studied and tested, i.e. analytes with high dpK(a)/dT and BGEs that exhibit low dpH/dT. It is well known that organic bases such as amines, imidazoles, and benzimidazoles exhibit high dpK(a)/dT. Temperature variations induce instantaneous changes on the basicity of these and other basic groups. Therefore, the electrophoretic velocity of some analytes changes abruptly when temperature variations are applied along the capillary. This is true only if BGE pH remains constant or if it changes in the opposite direction of pK(a) of the analyte. The presence of hot and cold sections along the capillary also affects local viscosity, conductivity, and electric field strength. The effect of these variables on electrophoretic velocity and band stacking efficacy was also taken into account in the theoretical model presented. Finally, this stacking method is demonstrated for lysine partially derivatized with naphthalene-2,3-dicarboxaldehyde. In this case, the amino group of the lateral chain was left underivatized and only the alpha amino group was derivatized. Therefore, the basicity of the lateral amino group, and consequently the electrophoretic mobility, was modulated with temperature while the pH of the buffer used remained unchanged.

Piano Performance at a New York Trade School Commencement

Six piano players spread across the front of the stage at the New York Trade School perform at a commencement ceremony. The graduates can be seen sitting in the first few rows of the auditorium with guests filling up the rest of the space. On the dais several administrators from the New York Trade School are shown. Black and white photograph.

Gloss and gloss variations inelectrophotographic print = Glans och glansvariationer i elektrofotografiskt tryck

This degree project was performed at M-real Technology Centre in Örnsköldsvik. The perpose was to investigate thedifferences in gloss and gloss variations between chemical and ground toner and different paper grades in electrophotographicprints. Gloss is a property that gives the impression of a higher quality of a product. Therefore it is of great importance toaccomplish high gloss in advertising print.A test chart was printed on three different uncoated paper grades on three different printers. Thereafter, gloss, glossvariation, surface topography, print mottle and density were measured. A visual evalution was also performed. A multivariateanalysis was acheived of the data in order to find correlations between the measured variations.The results showed that paper grades with large surface roughness gave more variations in surface topography and glossvariations (both visual and measured) in print. A rough surface also gave more print mottle. Ground toner gave moresurface topography variations and mottle which increased with the amount of silicone used.

Processes and variations in language economisation

This article analyses the processes of reducing language in textchats produced by non-native speakers of English. We propose that forms are reduced because of their high frequency and because of the discourse context. A wide variety of processes are attested in the literature, and we find different forms of clippings in our data, including mixtures of different clippings, homophone respellings, phonetic respellings including informal oral forms, initialisms (but no acronyms), and mixtures of clipping together with homophone and phonetic respellings. Clippings were the most frequent process (especially back-clippings and initialisms), followed by homophone respellings. There were different ways of metalinguistically marking reduction, but capitalisation was by far the most frequent. There is much individual variation in the frequencies of the different processes, although most were within normal distribution. The fact that nonnative speakers seem to generally follow reduction patterns of native speakers suggests that reduction is a universal process.

Building a Piano

Four students in the Piano Crafts Department at the New York Trade School are shown working on building a piano. Notice the aprons worn by the students are embroidered with the department name. Black and white photograph.

Interview with Louise "Lou" Trucks

In her December 2014 interview with Michelle Dubert-Bellrichard, Louise “Lou” Trucks detailed her thoughts and memories of her time at Winthrop. Trucks spoke of the time period from 1960-1964 as a music and music education double major. Trucks shared the benefits of being a music major, her involvement in campus traditions and organizations, and the rigor of her studies. Trucks concludes her interview detailing her life after Winthrop in Bloomington, IN and Rochester, NY. This interview was conducted for inclusion into the Louise Pettus Archives and Special Collections Oral History Program.

Towards a measure of income inequality freed from the volatility caused by variations in the rate of unemployment

By mixing together inequalities based on cyclical variables, such as unemployment, and on structural variables, such as education, usual measurements of income inequality add objects of a di§erent economic nature. Since jobs are not acquired or lost as fast as education or skills, this aggreagation leads to a loss of relavant economic information. Here I propose a di§erent procedure for the calculation of inequality. The procedure uses economic theory to construct an inequality measure of a long-run character, the calculation of which can be performed, though, with just one set of cross-sectional observations. Technically, the procedure is based on the uniqueness of the invariant distribution of wage o§ers in a job-search model. Workers should be pre-grouped by the distribution of wage o§ers they see, and only between-group inequalities should be considered. This construction incorporates the fact that the average wages of all workers in the same group tend to be equalized by the continuous turnover in the job market.