Blepharocheilodontic (BCD) syndrome: Expanding the phenotype?

We describe affected individuals in three generations of a family and another sporadic case, all Brazilian patients, with a combination of signs that diagnose the BCD syndrome. In addition to the cardinal signs, the sporadic case has hypothyroidism and imperforate anus, which was observed previously in one patient. The broadened phenotype and the possibility of involvement of p63 and IRF6 genes in this condition are discussed. © 2003 Wiley-Liss, Inc.

A new and threatened species of Scinax (Anura: Hylidae) from Queimada Grande Island, southeastern Brazil

We describe a new species of hylid frog, Scinax peixotoi, from Queimada Grande Island, southeastern Brazil. The new species belongs to the Scinax perpusillus species group, in which all known forms inhabit bromeliads, and is diagnosed by the following set of characters: moderate-size (males 18.8-20.7 mm SVL, females 22.4-25.1 mm SVL); canthus rostralis distinct; dorsal skin slightly rugose; and a distinct advertisement call with relatively low dominant frequency. The new species is known from a single population on Queimada Grande, an island of 43 ha, approximately 33 km distant from the coast of São Paulo State, where it inhabits scattered patches of bromeliads. The highly specialized and patchy habitat of S. peixotoi, associated with its small range size, make this species highly susceptible to stochastic or anthropogenic habitat disturbances, which could lead it to extinction. Copyright © 2007 Magnolia Press.

Clinical and molecular phenotype of Aicardi-Goutières syndrome

Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3′→5′ exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, and RNASEH2C were observed in 31, 3, 47, and 18 families, respectively. In five families, we identified an RNASEH2A or RNASEH2B mutation on one allele only. In one child, the disease occurred because of a de novo heterozygous TREX1 mutation. In 22 families, no mutations were found. Null mutations were common in TREX1, although a specific missense mutation was observed frequently in patients from northern Europe. Almost all mutations in RNASEH2A, RNASEH2B, and RNASEH2C were missense. We identified an RNASEH2C founder mutation in 13 Pakistani families. We also collected clinical data from 123 mutation-positive patients. Two clinical presentations could be delineated: an early-onset neonatal form, highly reminiscent of congenital infection seen particularly with TREX1 mutations, and a later-onset presentation, sometimes occurring after several months of normal development and occasionally associated with remarkably preserved neurological function, most frequently due to RNASEH2B mutations. Mortality was correlated with genotype; 34.3% of patients with TREX1, RNASEH2A, and RNASEH2C mutations versus 8.0% RNASEH2B mutation-positive patients were known to have died (P = .001). Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified. © 2007 by The American Society of Human Genetics. All rights reserved.

Spatial and temporal variability in soil CO2-C emissions and relation to soil temperature at King George Island, maritime Antarctica

Few studies have examined the effects of temperature on spatial and temporal trends in soil CO2-C emissions in Antarctica. In this work, we present in situ measurements of CO2-C emissions and assess their relation with soil temperature, using dynamic chambers. We found an exponential relation between CO2 emissions and soil temperature, with the value of Q10 being close to 2.1. Mean emission rates were as low as 0.026 and 0.072 g of CO2-C m-2 h-1 for bare soil and soil covered with moss, respectively, and as high as 0.162 g of CO2-C m-2 h-1 for soil covered with grass, Deschampsia antarctica Desv. (Poaceae). A spatial variability analysis conducted using a 60-point grid, for an area with mosses (Sannionia uncianata) and D. antarctica, yielded a spherical semivariogram model for CO2-C emissions with a range of 1 m. The results suggest that soil temperature is a controlling factor on temporal variations in soil CO2-C emissions, although spatial variations appear to be more strongly related to the distribution of vegetation types. © 2010 Elsevier B.V. and NIPR.

Automatic segmentation of the secondary austenite-phase island precipitates in a superduplex stainless steel weld metal

Duplex and superduplex stainless steels are class of materials of a high importance for engineering purposes, since they have good mechanical properties combination and also are very resistant to corrosion. It is known as well that the chemical composition of such steels is very important to maintain some desired properties. In the past years, some works have reported that γ 2 precipitation improves the toughness of such steels, and its quantification may reveals some important information about steel quality. Thus, we propose in this work the automatic segmentation of γ 2 precipitation using two pattern recognition techniques: Optimum-Path Forest (OPF) and a Bayesian classifier. To the best of our knowledge, this if the first time that machine learning techniques are applied into this area. The experimental results showed that both techniques achieved similar and good recognition rates. © 2012 Taylor & Francis Group.

Spin-resolved local density of states for an Anderson adatom in a ferromagnetic island

In this work, we investigate theoretically the spin-resolved local density of states (SR-LDOS) of a ferromagnetic (FM) island hybridized with an adatom, which is described by the Single Impurity Anderson Model (SIAM). Our results are comparable with Scanning Tunneling Microscope (STM) experimental data. © 2012 Springer Science+Business Media, LLC.

Evaluation of the psychrotrophic specific signatures for cspA gene and 16S rDNA on the phenotype of Bacillus cereus sensu strictu

This study characterised the psychrotrophic genotypes and phenotypes behaviour of 63 strains of Bacillus cereus sensu stricto isolated from dairy products. The presence of the cspA gene signature and the 16S rDNA mesophilic and/or psychrotrophic specific signatures was evaluated. Among the strains, 25 (39.7%) had the cspA gene signature, 38 (60.3%) had both mesophilic and psychrotrophic 16S rDNA signatures, 24 (38.1%) had only mesophilic and one exhibited only psychrotrophic. No strain grew at 7 °C. The results indicate that the presence of psychrotrophic signatures for cspA gene or the 16S rDNA did not ensure a psychrotrophic behaviour on a B. cereus phenotype. © 2013 Society of Dairy Technology.

La mujer en el comercio interinsular de productos agrícolas en el Caribe Oriental = Women in the inter-island trade in agricultural produce in the Eastern Caribbean

Incluye Bibliografía

Programa de Apoyo a los Pequeños Países Insulares en Desarrollo: algunas consideraciones iniciales = Programme of Support for Small Island Developing Countries: some initial considerations = Programme d'Aide aux Pays en Développement sur de Petites Iles: quelques considerations initiales

Aborda los problemas especificos que enfrentan los pequenos paises insulares en desarrollo, como sus limitados recursos, altos costos de produccion y de niveles de dependencia del comercio exterior, los problemas en la provision de servicios sociales, etc. Plantea algunas consideraciones iniciales para elaborar programas y proyectos de apoyo encaminados a superar dichos problemas.