ASPETTI CRISTALLOCHIMICI E STRUTTURALI DELLA FUKALITE

La struttura reale della fukalite, silico-carbonato idrato di calcio, formula chimica Ca4Si2O6(CO3)(OH), è stata determinata con l’aiuto dell’applicazione della teoria OD ed è stata raffinata attraverso dati di diffrazione ottenuti da un cristallo singolo, con radiazione di sincrotrone. Il campione esaminato proviene dal deposito di Gumeshevsk ed il suo diffrattogramma è caratterizzato da una serie di riflessi intensi, corrispondenti ad una substruttura ortorombica (la struttura di famiglia nella terminologia OD), ed una serie di riflessi più deboli addizionali che corrispondono ad una struttura reale monoclina. I parametri di cella raffinati sono: a = 7.573(3), b = 23.364(5), c = 11.544(4) Å, β= 109.15(1)°, ed il gruppo spaziale è P21/c. Questa cella unitaria corrisponde ad uno dei sei possibili politipi MDO (cioè politipi a “massimo grado di ordine”) che abbiamo ottenuto applicando la teoria OD. I dati d'intensità sono stati raccolti al sincrotrone Elettra (Trieste, Italia) su due distinti cristalli di fukalite, ed il raffinamento del modello strutturale ha portato ad indici di accordo R = 0.0352 per 1958 riflessi ed R = 0.0587 per 7507 riflessi, rispettivamente. La struttura della fukalite può essere descritta come formata da distinti moduli strutturali: (1) un modulo poliedrico di calcio, formato da strati poliedrici tipo tobermorite alternati lungo b con strati poliedrici a zig zag tipo tilleyite; (2) catene silicatiche con ripetizioni ogni cinque tetraedri, che corrono lungo a, che connettono gli strati di poliedri di calcio; ed infine (3) gruppi carbonato CO3 paralleli a (100), che si susseguono lungo a

Neurofibromatosis type 1: Splicing mutation detected by MLPA and DNA sequencing in Argentina

La neurofibromatosis tipo 1 (NF1) es un desorden genético autosómico dominante, con una prevalenciade 1 en 2500-3000 nacidos vivos. La dificultad diagnóstica se debe al tamaño extenso delgen NF1 con pocos sitios hot-spot, la ausencia de una clara relación genotipo-fenotipo y rasgos clínicos conun espectro muy heterogéneo. Un caso sospechoso de NF1 procedente de la provincia de Jujuy fue analizadopor MLPA (multiplex ligation-dependent probe amplification) en nuestro laboratorio. Mujer, adolescente mestiza(Amerindia/Europea), con un osteoma maxilar, lordosis lumbar, neurofibromas cutáneos y manchas café conleche. Por MLPA se detectó una alteración en el exón 13 del gen NF1. Por secuenciación del exón 13 se identificóuna mutación ?missense? en la posición 1466 del ARNm (NM_000267.3:c.1466A>G) que introduce un sitio desplicing aberrante. La patogenicidad de la mutación fue corroborada en la base de datos de variantes clínicasdel National Center for Biotechnology Information. En nuestro conocimiento, este es el primer registro de unamutación NF1 en un paciente proveniente de poblaciones mestizas del Noroeste Argentino. La alteración hasido reportada en individuos de otras poblaciones de origen muy disímil al del caso presentado, como la europea,sugiriendo que el sitio podría considerarse un sitio hot-spot del gen. Donde exista baja disponibilidad dediagnósticos moleculares, como en nuestro caso, se puede aplicar un algoritmo que comience por el estudio delgen NF1 por MLPA, metodología relativamente sencilla y de costo accesible. Con ella se evita enviar muestrasal extranjero para análisis genéticos.Neurofibromatosis type 1 (NF1) is a dominant autosomic genetic disorder, with a birth incidence of 1 in 2500-3000. Diagnosis is difficult because of the size of gene NF1 that has few hot-spots sites, the absence of a clear genotype-phenotype relation, and a heterogeneous clinical manifestation. A NF1 suspected case from Jujuy province was analyzed by multiplex ligation-dependent probe amplification (MLPA). Mestizo female teenage (Amerindian/European), with a maxilar osteoma, lumbar lordosis, cutaneous neurofibromas and café au lait spots. MLPA detected an alteration in exon 13 of the NF1 gene. By sequencing of exon 13, a missense mutation (NM_000267.3:c.1466A>G) was found which introduces an aberrant splicing site and is registered as pathogenic in the clinical variants database of NCBI. As far as we are aware, this is the first report of a NF1 mutation in mestizo population of Northwest Argentina. 1466A>G has been described before in patients of European origin, suggesting that the affected site could be a hot-spot site of the gene. For countries as Argentina, with limited availability of molecular diagnostic methods, we propose a diagnosis algorithm by starting the mutational analysis of NF1 with MLPA. This methodology is relatively simple and of low cost, avoiding to send samples abroad for genetic analyses.Fil: Laurito, Sergio Roberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos. Universidad Nacional de Cuyo. Facultad de Cienicas Médicas. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos; ArgentinaFil: Dipierri, Jose Edgardo. Universidad Nacional de Jujuy. Instituto de Biología de la Altura; ArgentinaFil: Roqué, María. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos. Universidad Nacional de Cuyo. Facultad de Cienicas Médicas. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos; Argentin

SAVERS: SAR ATR with Verification Support Based on Convolutional Neural Network

We propose a new convolutional neural network (CNN) which performs coarse and fine segmentation for end-to-end synthetic aperture radar (SAR) automatic target recognition (ATR) system. In recent years, many CNNs for SAR ATR using deep learning have been proposed, but most of them classify target classes from fixed size target chips extracted from SAR imagery. On the other hand, we proposed the CNN which outputs the score of the multiple target classes and a background class for each pixel from the SAR imagery of arbitrary size and multiple targets as fine segmentation. However, it was necessary for humans to judge the CNN segmentation result. In this report, we propose a CNN called SAR ATR with verification support (SAVERS), which performs region-wise (i.e. coarse) segmentation and pixel-wise segmentation. SAVERS discriminates between target and non-target, and classifies multiple target classes and non-target class by coarse segmentation. This report describes the evaluation results of SAVERS using the Moving and Stationary Target Acquisition and Recognition (MSTAR) dataset.Comment: Technical Report, 6 pages, 8 figures, 5 tables, Copyright(C)2018 IEICE. arXiv admin note: substantial text overlap with arXiv:1801.0855

Isonymic Relations In The Bolivia-Argentina Border

When migrating, people carry their cultural and genetic history, changing both, the transmitting and the recipient populations. This phenomenon changes the structure of the population of a country. The question is how to analyze the impact on the border region. A demographic and geopolitical analysis of borders requires an interdisciplinary approach. An isonymic analysis can be a useful tool. Surnames are part of cultural history, socio-cultural features transmitted from ancestors to their descendants through a vertical mechanism similar to that of genetic inheritance. The analysis of surname distribution can give quantitative information about the genetic structure of populations. The isonymic relations between border communities in southernBoliviaand northernArgentinawere analyzed from electoral registers. This comprised 89 sections included in 4 major administrative divisions, 2 from each country, which includes the international frontier. The Euclidean and geographic distance matrices where estimated for all possible pair wise comparisons between sections. The average isonymic distance was lower between Argentine than between Bolivian populations. Argentine sections formed three clusters, of which only one included a Bolivian section. The remaining clusters were exclusively formed by sections fromBolivia. The isonymic distance was greater along the border. Regardless of the intense human mobility in the past as in the present, and the presence of three major trans-border conurbations, the Bolivian-Argentine international boundary functions as a geographical and administrative barrier that affects differentially the distribution and frequency of surnames. The observed pattern could possibly be a continuity of pre-Columbian regional organization

Jujuy Province (NW Argentina): STR Markers Unveil Microgeographic Differentiation Over a Steep Mountainous Landscape

This study explores potential signals of microdifferentiation on the gene pool of three high-altitude populations from Jujuy province (NW Argentina) using highly polymorphic markers. These human communities are characterized by extreme living conditions and very low population densities owing to considerable height above sea level and steep orography. A set of autosomal STRs located at chromosome 6 (6p21.3) was typed in samples from Quebrada Baja (~2,500 m), Quebrada Alta (~ 3,300 m), and Puna (\u3e 3,500 m). Genetic diversity was estimated through the observed (Ho) and expected (He) heterozygosities, and the haplotype diversity. Analyses of the molecular variance (AMOVA) and population differentiation tests based on allele and haplotype frequencies were performed to assess genetic heterogeneity among subgroups. No deviation from HWE expectations was detected for each separate subpopulation; yet, significant departures were detected in the analysis considering the whole area (D6S2792 and D6S105 loci). Overall, genetic diversity showed a decreasing trend as the altitude increases. Thus, allele and haplotype frequencies showed the most significant differences between Puna and Quebrada Baja, which are the populations sited at the edges of the altitude range. The trend to the reduction of the heterozygosity with altitude proves to be compatible with historical patterns of colonization, interregional migration trends, population density, and genetic admixture. The main consequence of the complex mountainous landscape of Jujuy would be an imbalance in the interplay gene flow-genetic drift favoring the latter. The combined effect of restricted gene flow with intense genetic drift would have promoted local genetic differentiation between Jujuy highlands\u27 subpopulations, leading to spatial patterning of the allele frequencies not entirely attributable to geographic distance. Our findings corroborate the effectiveness of STRs to identify microevolutionary changes

Crecimiento longitudinal en poblaciones de altura andinas. ¿Existe un patrón propio de estos ecosistemas?

The objective of the present study is to verify if the classical growth pattern described for Andean highaltitude populations is equally applicable to all of them. Stature and longitudinal growth pattern is analyzed in scholars between 6 and 18 years old belonging to three human groups of the province of Jujuy, located in the Argentine noroccidental furthest end. One of these groups is Susques (3675 m.s.n.m.) and the other two, ubicated in San Salvador de Jujuy (1250m.s.n.m.), differs in socioeconomic level and genetic background. These populations are also compared with neighboring countries other ones. The results show that socioeconomic level or autochthony degree has more relative importance than geographic altitude per sé as childhood and youth growth determinants. Consequently, it does’nt seem appropriate to talk about a specific high altitude peoples morphophysiology.El objetivo del presente trabajo es comprobar si el patrón de crecimiento clásicamente descrito para las poblaciones andinas de altura es igualmente aplicable a todas ellas. Se analiza la estatura y el modelo de crecimiento longitudinal en escolares entre 6 y 18 años pertenecientes a tres grupos humanos de la provincia de Jujuy, situada en el extremo noroccidental argentino. Uno de Susques (3675 m.s.n.m.) y dos de San Salvador de Jujuy (1250m.s.n.m.), capital de la provincia, que difieren en nivel socioeconómico y composición genética. Así mismo se comparan estas poblaciones con otras de países vecinos. Los resultados muestran que el nivel socioeconómico o grado de autoctonía tienen más importancia relativa como determinantes del crecimiento infantil y juvenil que la altitud geográfica per sé. En consecuencia, no parece apropiado hablar de una morfofisiología específica para las poblaciones humanas de altitud elevada

Nutritional status of adults in Northwest Argentina: an observational study

Background: Northwestern Argentina (NWA) is a region with geographic, ethnic, socioeconomic, and cultural characteristics that set it apart from the rest of the country. The present study aimed to analyze both the anthropometry and nutritional status of adults in this region and establish its recent secular trend. Methods: This was an observational cross-sectional study that utilized the National Risk Factor Survey (NRFS) 2018. We calculated the body mass index (BMI), waist-to-height ratio (WHtR), and relative fat mass (RFM) by sex in the six provinces that comprise the NWA region based on the weight, height, and waist circumference data of 3,283 individuals. We also calculated the prevalence of underweight, overweight, and obesity. Furthermore, we evaluated the correlation and correspondence between measurements and anthropometric indexes. Joinpoint regression analyses were performed to identify trend changes, which were then compared with that established for the rest of the country. Results: The regional population presented a heterogeneous distribution of anthropometric variables, in which the Andean provinces of Salta and Jujuy presented the lowest height and weight and highest percentage of body fat. These anthropometric differences were not evident in the prevalence of nutritional status determined by the BMI, which did not exhibit significant variations between the region and the rest of the country. Excess body weight, as measured by any of the indexes, reached over 65% of the population, and the prevalence of obesity in both sexes was higher than that established for Argentina overall. The secular trend in obesity was positive and higher in some provinces compared to the region and the rest of the country. These differences are interpreted according to the geographic, ethnic, socioeconomic, and cultural characteristics of the region. Conclusions: The anthropometric variables registered in some provinces vary significantly compared to those of the country as a whole, and these differences are not captured by the traditionally used obesity indices.Fil: Andrade, Lautaro Daniel. Universidad Nacional de Jujuy. Instituto de Ecorregiones Andinas. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Salta. Instituto de Ecorregiones Andinas; ArgentinaFil: Martinez, Jorge Ivan. Universidad Nacional de Jujuy. Instituto de Ecorregiones Andinas. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Salta. Instituto de Ecorregiones Andinas; ArgentinaFil: Alfaro Gómez, Emma Laura. Universidad Nacional de Jujuy. Instituto de Ecorregiones Andinas. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Salta. Instituto de Ecorregiones Andinas; ArgentinaFil: Dipierri, Jose Edgardo. Universidad Nacional de Jujuy. Instituto de Ecorregiones Andinas. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Salta. Instituto de Ecorregiones Andinas; Argentin

Effect of high altitude on birth weight and adverse perinatal outcomes in two argentine populations

Introducción: existe poca información sobre la relación entre tamaño al nacer y altura geográfica ajustada para factores maternos y obstétricos potencialmente confusores. Objetivo: analizar la variación, en función de la altitud geográfica, del Peso al Nacimiento (PN) y resultados perinatales adversos, en dos poblaciones argentinas. Material y Métodos: 4000 registros de recién nacidos (RN) de Jujuy y 4000 de Buenos Aires (Maternidad Sardá) (1996-2000), seleccionados y aleatorizados del Sistema Informático Perinatal. Los datos provenían de la Maternidad Sarda (20 msnm) y las regiones jujeñas: Ramal (500 msnm), Valle (1200 msnm), Quebrada (2500 msnm) y Puna (3500 msnm). Variables resultado: PN >3000 g, PN 3000 g, PN 3000 g, BW 3000 g, BW<2500g and PI were negatively associated with altitude (p <0.001). Prematurity, SGA and FGR showed an opposite trend (p <0.001). Adjusted for confounding variables BW <3000 g, SGA, FGR<0.90 and PI <2.53 showed an increased risk with geographical altitude (p <0.05). Conclusions: Altitude was independently associated with BW restriction and adverse perinatal outcomes. Given the impact of BW reduction in the risk of chronic no communicable diseases this relationship in other populations, regardless of their location altitude, should be assess.Fil: Grandi, Carlos. Gobierno de la Ciudad de Buenos Aires. Maternidad Sardá; ArgentinaFil: Dipierri, Jose Edgardo. Universidad Nacional de Jujuy. Facultad de Humanidades y Ciencias Sociales; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Luchtenberg, Guillermo. Gobierno de la Ciudad de Buenos Aires. Maternidad Sardá; ArgentinaFil: Moresco, Angélica. Gobierno de la Ciudad de Buenos Aires. Maternidad Sardá; ArgentinaFil: Alfaro Gómez, Emma Laura. Universidad Nacional de Jujuy; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentin

Mortalidade infantil devido à microcefalia antes do surto de zika no Brasil

Introducción: Presentamos la variación temporal y espacial de las muertes por microcefalia en niños menores de 1 año de edad que se analizan a nivel regional, estatal y municipal en el período pre-Zika en Brasil. Materiales y métodos: Los datos sobre nacimientos y muertes de niños con microcefalia se obtuvieron de DATASUS de 1996 a 2013. La tasa de mortalidad infantil por microcefalia (TMI-M) se estimó a nivel de Región, Unidad de Federativa (UF) y Municipio. La tendencia secular (TS) y la variación del riesgo de muerte se estimaron utilizando un modelo de regresión de Poisson. El análisis estadístico espacial fue realizado por un modelo de Poisson utilizando el software Satscan. Resultados: La TMI-M muestra un TS negativo no significativo en las regiones sudeste, sur y centro-oeste de Brasil. Una mayor variación de riesgo de muerte se encuentra en las regiones Norte y Noreste. La mayoría de las UF en las regiones Sureste, Sur y Centro-Oeste mostraron un TS negativa, en contraste con lo que ocurre en las UF de las Regiones Norte y Noreste mostraron una TS positiva. Se encontraron seis agrupamientos significativos de alto riesgo: 3 en el Norte-Noreste y 3 en el Sur-SurOeste-Centro-Oeste. Conclusiones: Las regiones Norte y Noreste mostraron una TS positiva para la TMI-M y un mayor riesgo de muerte, que no se observó en las otras regiones. La distribución de los agrupamientos de mayor TMI-M y riesgo se asemeja a la distribución de los casos de microcefalia y Zika en el período del brote.Introduction: We present temporal and spatial variation of deaths from microcephaly in children under 1 year of age is analyzed at regional, state, and municipal level in the preZika period in Brazil. Materials and Methods: Data on births and deaths of infants with microcephaly was obtained from DATASUS from 1996 to 2013. Infant mortality rate from microcephaly (IMR-M) was estimated at Region, Federative Unit (UF), and Municipality level. Secular trend (ST) and risk of death variation were estimated using a Poisson regression model. Satscan software was used to obtain a statistic spatial scan for the Poisson model. Results: IMR-M shows a non-significant negative ST in the Southeast, South and Central West Regions of Brazil. A greater IMR-M risk of death variation is found in the North and Northeast Regions. Most UFs in the Southeast, South and Central West Regions showed a negative ST, in contrast to what occurs in the UFs of the North and Northeast Regions showed a positive ST. Six high risk significant clusters were found: 3 in the NorthNortheast and 3 in the South-SouthWest-Center-West. Conclusions: The North and Northeast Regions showed positive ST for IRM-M and higher death risk, which was not observed in the other regions. Cluster distribution for higher IMR-M and risk resembles the distribution of the microcephaly and Zika cases in the outbreak period.Introdução: Apresentamos a variação temporal e espacial das mortes por microcefalia em crianças menores de um ano de idade analisadas nos níveis regional, estadual e municipal no período pré-zika no Brasil. Materiais e métodos: Os dados sobre o nascimento e morte de crianças com microcefalia é obtido DATASUS 1996 a 2013. A taxa de mortalidade infantil por microcefalia (IMR-M) foi estimada região nível, UF (UF) e município. A tendência secular (ST) e a variação do risco de morte foram estimadas usando um modelo de regressão de Poisson. A análise estatística espacial foi realizada por um modelo de Poisson utilizando o software Satscan. Resultados: O IMR-M mostra um ST negativo não significativo nas regiões sudeste, sul e centro-oeste do Brasil. Uma maior variação no risco de morte da IMR-M é encontrada nas regiões Norte e Nordeste. A maioria das UF nas regiões Sudeste, Sul e CentroOeste apresentou um ST negativo, ao contrário do que ocorre na UF das Regiões Norte e Nordeste, que apresentou um ST positivo. Seis grupos significativos de alto risco foram encontrados: 3 no Norte-Nordeste e 3 no Sul-Sul-Oeste-Centro-Oeste. Conclusões: As regiões Norte e Nordeste apresentaram um ST positivo para RM e um aumento do risco de morte, o que não foi observado nas demais regiões. A distribuição dos grupos de maior IMR-M e risco assemelha-se à distribuição dos casos de microcefalia e zika no período do surtoFil: Dipierri, Jose Edgardo. Universidad Nacional de Jujuy. Instituto de Biología de la Altura; ArgentinaFil: Schüler-Faccini, Lavinia. Universidade Federal do Rio Grande do Sul; BrasilFil: Chapur, Valeria Fernanda. Universidad Nacional de Jujuy. Instituto de Ecorregiones Andinas. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Salta. Instituto de Ecorregiones Andinas; ArgentinaFil: Bronberg, Ruben Adrian. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentin