Mendelian inheritance, linkage and linkage disequilibrium in microsatellite loci of Copaifera langsdorffii Desf.

Copaifera langsdorffii is a Neotropical tree with wide distribution in the Brazilian Atlantic rain forest and savanna. Although eight microsatellite loci (SSR) were developed in 2000 and have been widely used since then, there is yet no information about their inheritance, linkage and linkage disequilibrium (LD). Through the analysis of 28 open-pollinated (OP) progenies, the SSR loci revealed Mendelian inheritance and independent assortment. Using these progenies, young and adult trees LD was mainly detected in OP progenies. Our results show clear evidence that the eight SSR loci can be used without restriction in genetic diversity, mating system and parentage analysis.

Granulocyte-Colony Stimulating Factor (G-CSF) induces mechanical hyperalgesia via spinal activation of MAP kinases and PI(3)K in mice

Granulocyte-colony stimulating factor (G-CSF) is a current pharmacological approach to increase peripheral neutrophil counts after anti-tumor therapies. Pain is most relevant side effect of G-CSF in healthy volunteers and cancer patients. Therefore, the mechanisms of G-CSF-induced hyperalgesia were investigated focusing on the role of spinal mitogen-activated protein (MAP) kinases ERK (extracellular signal-regulated kinase). JNK (Jun N-terminal Kinase) and p38, and PI(3)K (phosphatidylinositol 3-kinase). G-CSF induced dose (30-300 ng/paw)-dependent mechanical hyperalgesia, which was inhibited by local post-treatment with morphine. This effect of morphine was reversed by naloxone (opioid receptor antagonist). Furthermore, G-CSF-induced hyperalgesia was inhibited in a dose-dependent manner by intrathecal pre-treatment with ERK (PD98059), JNK (SB600125), p38 (SB202190) or PI(3)K (wortmanin) inhibitors. The co-treatment with MAP kinase and PI(3)K inhibitors, at doses that were ineffective as single treatment, significantly inhibited G-CSF-induced hyperalgesia. Concluding, in addition to systemic opioids, peripheral opioids as well as spinal treatment with MAP kinases and PI(3)K inhibitors also reduce G-CSF-induced pain. (C) 2011 Elsevier Inc. All rights reserved.

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

We previously reported a Vietnamese-American family with isolated autosomal dominant occipital cephalocele. Upon further neuroimaging studies, we have recharacterized this condition as autosomal dominant Dandy-Walker with occipital cephalocele (ADDWOC). A similar ADDWOC family from Brazil was also recently described. To determine the genetic etiology of ADDWOC, we performed genome-wide linkage analysis on members of the Vietnamese-American and Brazilian pedigrees. Linkage analysis of the Vietnamese-American family identified the ADDWOC causative locus on chromosome 2q36.1 with a multipoint parametric LOD score of 3.3, while haplotype analysis refined the locus to 1.1 Mb. Sequencing of the five known genes in this locus did not identify any protein-altering mutations. However, a terminal deletion of chromosome 2 in a patient with an isolated case of Dandy-Walker malformation also encompassed the 2q36.1 chromosomal region. The Brazilian pedigree did not show linkage to this 2q36.1 region. Taken together, these results demonstrate a locus for ADDWOC on 2q36.1 and also suggest locus heterogeneity for ADDWOC.

Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity

Auriculo-condylar syndrome (ACS), an autosomal dominant disorder of first and second pharyngeal arches, is characterized by malformed ears (`question mark ears`), prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle hypoplasia. Penetrance seems to be complete, but there is high inter-and intra-familial phenotypic variation, with no evidence of genetic heterogeneity. We herein describe a new multigeneration family with 11 affected individuals (F1), in whom we confirm intra-familial clinical variability. Facial asymmetry, a clinical feature not highlighted in other ACS reports, was highly prevalent among the patients reported here. The gene responsible for ACS is still unknown and its identification will certainly contribute to the understanding of human craniofacial development. No chromosomal rearrangements have been associated with ACS, thus mapping and positional cloning is the best approach to identify this disease gene. To map the ACS gene, we conducted linkage analysis in two large ACS families, F1 and F2 (F2; reported elsewhere). Through segregation analysis, we first excluded three known loci associated with disorders of first and second pharyngeal arches (Treacher Collins syndrome, oculo-auriculo-vertebral spectrum, and Townes-Brocks syndrome). Next, we performed a wide genome search and we observed evidence of linkage to 1p21.1-q23.3 in F2 (LOD max 3.01 at theta = 0). Interestingly, this locus was not linked to the phenotype segregating in F1. Therefore, our results led to the mapping of a first locus of ACS (ACS1) and also showed evidence for genetic heterogeneity, suggesting that there are at least two loci responsible for this phenotype.

Moho map of South America from receiver functions and surface waves

We estimate crustal structure and thickness of South America north of roughly 40 degrees S. To this end, we analyzed receiver functions from 20 relatively new temporary broadband seismic stations deployed across eastern Brazil. In the analysis we include teleseismic and some regional events, particularly for stations that recorded few suitable earthquakes. We first estimate crustal thickness and average Poisson`s ratio using two different stacking methods. We then combine the new crustal constraints with results from previous receiver function studies. To interpolate the crustal thickness between the station locations, we jointly invert these Moho point constraints, Rayleigh wave group velocities, and regional S and Rayleigh waveforms for a continuous map of Moho depth. The new tomographic Moho map suggests that Moho depth and Moho relief vary slightly with age within the Precambrian crust. Whether or not a positive correlation between crustal thickness and geologic age is derived from the pre-interpolation point constraints depends strongly on the selected subset of receiver functions. This implies that using only pre-interpolation point constraints (receiver functions) inadequately samples the spatial variation in geologic age. The new Moho map also reveals an anomalously deep Moho beneath the oldest core of the Amazonian Craton.

p38 alpha MAP Kinase Controls IL-17 Synthesis in Vogt-Koyanagi-Harada Syndrome and Experimental Autoimmune Uveitis

PURPOSE. Interleukin (IL)-17, which is responsible for the initial influx of leukocytes into the target tissue, was recently described as the main cytokine involved in autoimmune diseases. Vogt-Koyanagi-Harada (VKH) syndrome is a significant cause of noninfectious blindness in the world. Herein the authors aimed at unraveling the involvement of IL-17 in VKH and in experimental autoimmune uveitis, focusing on the signaling pathways involved in IL-17 synthesis. METHODS. Mice were immunized with 161-180 peptide and pertussis toxin. Draining lymph node cells, harvested 21 days after immunization, were cultured in the presence or absence of p38 alpha mitogen-activated protein kinase (MAPK) inhibitor (SB203580) and assayed for cytokine production and quantification of CD4(+)IL-17(+) cells. Mice received intraocular injections of SB203580, and disease severity was evaluated by histologic examination of the enucleated eyes at day 21. CD4(+) lymphocytes from MSK-1/2-deficient mice, human CD4(+) cells silenced with MSK1 siRNA, or peripheral blood mononuclear cells (PBMCs) from VKH patients were cultured in the presence or absence of p38 alpha MAPK inhibitor and then assayed for IL-17, IFN-gamma, and IL-4 production. RESULTS. The inhibition of p38 alpha MAPK fully blocked the synthesis of IL-17 by PBMCs from VKH patients and lymphocytes from EAU mice. The absence of the msk1/2 gene resulted in failure to produce IL-17 by murine and human lymphocytes. Interestingly, intraocular injections of SB203580 in EAU mice did not suppress development of the disease. CONCLUSIONS. These data show that p38 alpha MAPK-MSK1/2 is involved in the control of IL-17 synthesis by CD4(+) T cells and that inhibition of p38 alpha MAPK in vitro suppresses IL-17 synthesis but that inhibition of this kinase in vivo did not protect from EAU. (Invest Ophthalmol Vis Sci. 2010;51:3567-3574) DOI: 10.1167/iovs.09-4393

Finite determinacy and Whitney equisingularity of map germs from C(n) to C(2n-1)

We show that a holomorphic map germ f : (C(n), 0) -> (C(2n-1), 0) is finitely determined if and only if the double point scheme D(f) is a reduced curve. If n >= 3, we have that mu(D(2)(f)) = 2 mu(D(2)(f)/S(2))+C(f)-1, where D(2)(f) is the lifting of the double point curve in (C(n) x C(n), 0), mu(X) denotes the Milnor number of X and C(f) is the number of cross-caps that appear in a stable deformation of f. Moreover, we consider an unfolding F(t, x) = (t, f(t)(x)) of f and show that if F is mu-constant, then it is excellent in the sense of Gaffney. Finally, we find a minimal set of invariants whose constancy in the family f(t) is equivalent to the Whitney equisingularity of F. We also give an example of an unfolding which is topologically trivial, but it is not Whitney equisingular.

The doodle of a finitely determined map germ from R(2) to R(3)

Let f : U subset of R(2) -> R(3) be a representative of a finitely determined map germ f : (R(2), 0) -> (R(3), 0). Consider the curve obtained as the intersection of the image of the mapping f with a sufficiently small sphere s(epsilon)(2) centered at the origin in R(3), call this curve the associated doodle of the map germ f. For a large class of map germs the associated doodle has many transversal self-intersections. The topological classification of such map germs is considered from the point of view of the associated doodles. (C) 2009 Elsevier Inc. All rights reserved.

A note on finite determinacy for corank 2 map germs from surfaces to 3-space

We study properties of finitely determined corank 2 quasihomogeneous map germs f: (C(2), 0) -> (C(3), 0). Examples and counter examples of such map germs are presented.

Real map germs and higher open book structures

The paper focusses on the existence of higher open book structures defined by real map germs psi : (R(m), 0) -> (R(p), 0) such that Sing psi boolean AND psi(-1)(0) subset of {0}. A general existence criterion is proved, with view to weighted-homogeneous maps.

The non-twist standard map with robust tori

The non-twist standard map occurs frequently in many fields of science specially in modelling the dynamics of the magnetic field lines in tokamaks. Robust tori, dynamical barriers that impede the radial transport among different regions of the phase space, are introduced in the non-twist standard map in a conservative fashion. The resulting non-twist standard map with robust tori is an improved model to study transport barriers in plasmas confined in tokamaks.

Clustering and diffusion in a symplectic map lattice with non-local coupling

We study a symplectic chain with a non-local form of coupling by means of a standard map lattice where the interaction strength decreases with the lattice distance as a power-law, in Such a way that one can pass continuously from a local (nearest-neighbor) to a global (mean-field) type of coupling. We investigate the formation of map clusters, or spatially coherent structures generated by the system dynamics. Such clusters are found to be related to stickiness of chaotic phase-space trajectories near periodic island remnants, and also to the behavior of the diffusion coefficient. An approximate two-dimensional map is derived to explain some of the features of this connection. (C) 2008 Elsevier Ltd. All rights reserved.

A novel MAP-MRF approach for multispectral image contextual classification using combination of suboptimal iterative algorithms

In this paper we present a novel approach for multispectral image contextual classification by combining iterative combinatorial optimization algorithms. The pixel-wise decision rule is defined using a Bayesian approach to combine two MRF models: a Gaussian Markov Random Field (GMRF) for the observations (likelihood) and a Potts model for the a priori knowledge, to regularize the solution in the presence of noisy data. Hence, the classification problem is stated according to a Maximum a Posteriori (MAP) framework. In order to approximate the MAP solution we apply several combinatorial optimization methods using multiple simultaneous initializations, making the solution less sensitive to the initial conditions and reducing both computational cost and time in comparison to Simulated Annealing, often unfeasible in many real image processing applications. Markov Random Field model parameters are estimated by Maximum Pseudo-Likelihood (MPL) approach, avoiding manual adjustments in the choice of the regularization parameters. Asymptotic evaluations assess the accuracy of the proposed parameter estimation procedure. To test and evaluate the proposed classification method, we adopt metrics for quantitative performance assessment (Cohen`s Kappa coefficient), allowing a robust and accurate statistical analysis. The obtained results clearly show that combining sub-optimal contextual algorithms significantly improves the classification performance, indicating the effectiveness of the proposed methodology. (C) 2010 Elsevier B.V. All rights reserved.

Groundwater favorability map using GIS multicriteria data analysis on crystalline terrain, Sao Paulo State, Brazil

This paper presents the groundwater favorability mapping on a fractured terrain in the eastern portion of Sao Paulo State, Brazil. Remote sensing, airborne geophysical data, photogeologic interpretation, geologic and geomorphologic maps and geographic information system (GIS) techniques have been used. The results of cross-tabulation between these maps and well yield data allowed groundwater prospective parameters in a fractured-bedrock aquifer. These prospective parameters are the base for the favorability analysis whose principle is based on the knowledge-driven method. The mutticriteria analysis (weighted linear combination) was carried out to give a groundwater favorabitity map, because the prospective parameters have different weights of importance and different classes of each parameter. The groundwater favorability map was tested by cross-tabulation with new well yield data and spring occurrence. The wells with the highest values of productivity, as well as all the springs occurrence are situated in the excellent and good favorabitity mapped areas. It shows good coherence between the prospective parameters and the well yield and the importance of GIS techniques for definition of target areas for detail study and wells location. (c) 2008 Elsevier B.V. All rights reserved.

Spacelike Surfaces in L(4) with Degenerate Gauss Map

In this paper we study and present a complete classification of spacelike surfaces with degenerate Gauss map in the Lorentz-Minkowski space L(4).