The Finnish lapphund retinal atrophy locus maps to the centromeric region of CFA9

<p>Abstract</p> <p>Background</p> <p>Dogs have the second largest number of genetic diseases, after humans. Among the diseases present in dogs, progressive retinal atrophy has been reported in more than a hundred breeds. In some of them, the mutation has been identified and genetic tests have allowed the identification of carriers, thus enabling a drastic reduction in the incidence of the disease. The Finnish lapphund is a dog breed presenting late-onset progressive retinal atrophy for which the disease locus remains unknown.</p> <p>Results</p> <p>In this study we mapped the progressive retinal atrophy locus in the Finnish lapphund using a DNA pooling approach, assuming that all affected dogs within the breed share the same identical-by descent-mutation as the cause of the disease (genetic homogeneity). Autosomal recessive inheritance was also assumed, after ruling out, from pedigree analysis, dominant and X-linked inheritance. DNA from 12 Finnish lapphund cases was mixed in one pool, and DNA from 12 first-degree relatives of these cases was mixed to serve as the control pool. The 2 pools were tested with 133 microsatellite markers, 3 of which showed a shift towards homozygosity in the cases. Individual genotyping with these 3 markers confirmed homozygosity for the GALK1 microsatellite only (chromosome 9). Further individual genotyping with additional samples (4 cases and 59 controls) confirmed the association between this marker and the disease locus (p < 0.001). Closely related to this breed are the Swedish lapphund and the Lapponian herder for which a small number of retinal atrophy cases have been reported. Swedish lapphund cases, but not Lapponian herder cases, had the same GALK1 microsatellite genotype as Finnish lapphund cases.</p> <p>Conclusion</p> <p>The locus for progressive rod-cone degeneration is known to be close to the GALK1 locus, on the telomeric region of chromosome 9, where the retinal atrophy locus of the Finnish lapphund has been mapped. This suggests that the disease in this breed, as well as in the Swedish lapphund, may correspond to progressive rod-cone degeneration. This would increase the number of known dog breeds having this particular form of progressive retinal atrophy.</p

Tamaño y estructura poblacional de crocodylus acutus (cuvier 1807) (reptilia: crocodylidae) en el estero La Ventanilla, Oaxaca, México

A population of the American crocodile (Crocodylus acutus) protected through local participation was studied at La Ventanilla estuary in the coast of Oaxaca, during 8 months (October 2003-May 2004). Size, structure and sex ratio of this population were evaluated in order to provide demographic information of the American crocodile using two capturerecapture methods. A total of 21 adults (8 females, 13 males), 11 subadults (5 females, 6 males), 88 juveniles (14 females, 62 males) and 23 neonates were captured, measured and individually marked. Goodness-of-fit tests for the Jolly-Seber model showed that our population data violated the assumption of equal probability of capture and resulted in a skewed estimate of population size. However, goodness-of- fit tests for the geometric estimator of the capture frequency model applied to the same capture-recapture data showed recapture frequencies conform to it. Population size estimates for this model were 29.6 ± 9.1 adults, 37.1 ± 6.6 subadults, and 682.5 ± 39.2 juveniles. Population structure does not fit the normal distribution (d=39.5,P&gt;0.05), most individuals belonging to lower size classes (16.2% in class I, 61.5% in class II), with few subadults (9.1% in class III) and adults (13.3 %, I class IV). Overall sex ratio was significantly skewed towards males (3 males: 1 female). This analysis provides information for future management strategies for the C. acutus population at La Ventanilla estuary.Se estudió una población del cocodrilo de río (Crocodylus acutus) protegida por medio de la participación local en el estero La Ventanilla, Oaxaca, México, entre octubre del 2003 y mayo del 2004. Se estimó el tamaño, estructura y proporción de sexos de esta población para aportar información demográfica del cocodrilo de río mediante la aplicación de dos métodos de captura-recaptura. Se capturaron, midieron y marcaron 21 adultos (8 hembras, 13 machos), 11 subadultos (5 hembras, 6 machos), 88 juveniles (14 hembras, 62 machos) y 23 neonatos. La estimación del tamaño de la población mediante el modelo de Jolly-Seber resultó sesgada debido a que las pruebas de bondad de ajuste detectaron que las historias de captura no se ajustaron al supuesto de igual probabilidad de captura de este modelo. Las mismas historias de captura mostraron un ajuste significativo al modelo del estimador geométrico de frecuencia de capturas y las estimaciones de tamaño poblacional con este modelo fueron de 29.6 ± 9.1 adultos, 37.1 ± 6.6 subadultos y 682.5 ± 39.2 juveniles. La estructura por clases de tamaño de la población de C. acutus no sigue una distribución normal y la mayor parte de los organismos están distribuidos en las clases de menor tamaño (clase I=16.1%, clase II=61.5%), con poca representación de subadultos (clase III= 9.19%) y de adultos (clase IV=13.3%). La proporción de sexos esta significativamente sesgada hacia los machos (3 machos:1 hembra). Este análisis proporciona información para el futuro diseño de estrategias de manejo de la población de C. acutus en el estero La Ventanilla

Orientação para o mercado da indústria colombiana de licores

This research study provides a review of the importance of both reactive and proactive market orientation (MO) of industrially active liquor manufacturing companies in Colombia. This topic is addressed because it is valuable for the strategic planning of organizations that seek a competitive advantage, as it leads to improving customer satisfaction, achieving greater engagement on the part of employees, and producing increased profitability. The study was carried out at six companies where interviews were conducted with 45 employees, including directors, professionals, and technicians. The study findings show that this proved to be a valid, reliable instrument for this industry on a national level. They also demonstrated that reactive and proactive MO in the liquor industry in Colombia is now at an intermediate level of development.En la presente investigación se analiza la importancia de la orientación al mercado (OM), tanto reactiva como proactiva, en las licoreras colombianas activas industrialmente; se asume este tema por su valor en la formulación estratégica de las organizaciones para obtener una ventaja competitiva, pues conduce a una mayor satisfacción del cliente, un mayor compromiso de los empleados y una mayor rentabilidad. El estudio se realiza en seis empresas en las cuales se llevó a cabo una encuesta a 45 empleados entre directivos, profesionales y técnicos. Los resultados muestran que el instrumento resultó válido y confiable para el sector en el contexto nacional y arrojó hallazgos que muestran que la OM, tanto reactiva como proactiva en la industria de licores del país se encuentra en un nivel medio de desarrollo.No presente estudo é analisada a importância da orientação para o mercado (OM), tanto reativa como proativa, nas licoreiras colombianas industrialmente ativas. Esse tópico é assumido por seu valor na formulação estratégica das organizações para obter uma vantagem competitiva, pois conduz a uma maior satisfação do cliente, a um maior engajamento dos empregados e a uma maior rentabilidade. O estudo foi realizado em seis empresas onde foram entrevistados 45 empregados, incluindo gestores, profissionais e técnicos. Os resultados mostram que o instrumento obteve resultados válidos e de confiança para o setor no contexto nacional e apresentou constatações que mostram que a OM, tanto reativa como proativa na indústria de licores do país se encontra em um nível médio de desenvolvimento

Reproducibilidad del diagnóstico histopatológico de lesiones precursoras del carcinoma gástrico en tres países latinoamericanos

Objetivo. Evaluar la concordancia en el diagnóstico de lesiones precursoras del carcinoma gástrico de tipo intestinal entre observadores con diferente experiencia. Material y métodos. Se estudiaron 1 056 casos de biopsias gástricas: 341 de Colombia, 382 de México y 333 de Paraguay. En el diagnóstico de cada caso participaron patólogos sin experiencia en patología gastrointestinal (A), patólogos con experiencia en patología gastrointestinal (B) y expertos que trabajan en un centro de referencia internacional (C). Resultados. La concordancia (k) entre patólogos inexpertos y expertos fue pobre en el diagnóstico de gastritis atrófica (k=0.04 a 0.12) y displasia (k=0.11 a 0.05) y buena en el diagnóstico de metaplasia intestinal (k=0.52 a 0.58); la supervisión de un patólogo inexperto por un experto mejoró notablemente la concordancia en el diagnóstico de gastritis atrófica (k=0.65) y metaplasia intestinal (k=0.91) y, en un menor grado, de displasia (k=0.28). Al comparar la concordancia entre expertos antes y después de la reunión de consenso no hubo variación en el diagnóstico de gastritis atrófica (k=0.57); la concordancia varió de buena a excelente en el de metaplasia intestinal (k=0.67 a 0.81) y de pobre a buena en el de displasia (k=0.18 a 0.66). Conclusión. Los principales problemas se presentan en el diagnóstico de la gastritis crónica atrófica y la displasia. La concordancia interobservador depende de la experiencia del observador y la lectura de consenso.Objective. The aim was to evaluate the concordance in the diagnosis of precursor lesions of intestinal-type gastric carcinoma among observers with different levels of experience. Material and Methods. Gastric biopsies from 1 056 cases were studied: 341 from Colombia, 382 from Mexico, and 333 from Paraguay. Pathologists without experience (A) and with experience (B) in gastrointestinal pathology, as well as experts working in an international reference center (C) participated in the diagnosis of each case. Results. The concordance (k) between pathologists with experience and those without was poor for the diagnosis of atrophic gastritis (k=0.04 to 0.12) and dysplasia (k=0.11 to 0.05), and good for the diagnosis of intestinal metaplasia (k=0.52 to 0.58). Supervision of pathologists without experience by those with experience remarkably improved the concordance in the diagnosis of atrophic gastritis (k=0.65) and intestinal metaplasia (k=0.91), and to a lesser degree, of dysplasia (k=0.28). The concordance among experts before and after the consensus meeting showed no variation in the diagnosis of atrophic gastritis (k=0.57); the concordance varied from good to excellent in the diagnosis of intestinal metaplasia (k=0.67 to 0.81) and from poor to good in that of dysplasia (k=0.18 to 0.66). Conclusion. The greatest differences arose in the diagnosis of chronic atrophic gastritis and dysplasia. The interobserver concordance depended on the experience of the observer and the consensus reading

Disruption of chromosome 11 in canine fibrosarcomas highlights an unusual variability of CDKN2B in dogs.

BACKGROUND: In dogs in the western world neoplasia constitutes the most frequently diagnosed cause of death. Although there appear to be similarities between canine and human cancers, rather little is known about the cytogenetic and molecular alterations in canine tumours. Different dog breeds are susceptible to different types of cancer, but the genetic basis of the great majority of these predispositions has yet to be discovered. In some retriever breeds there is a high incidence of soft tissue sarcomas and we have previously reported alterations of chromosomes 11 and 30 in two poorly differentiated fibrosarcomas. Here we extend our observations and present a case report on detail rearrangements on chromosome 11 as well as genetic variations in a tumour suppressor gene in normal dogs. RESULTS: BAC hybridisations on metaphases of two fibrosarcomas showed complex rearrangements on chromosome 11, and loss of parts of this chromosome. Microsatellite markers on a paired tumour and blood DNA pointed to loss of heterozygosity on chromosome 11 in the CDKN2B-CDKN2A tumour suppressor gene cluster region. PCR and sequencing revealed the homozygous loss of coding sequences for these genes, except for exon 1beta of CDKN2A, which codes for the N-terminus of p14ARF. For CDKN2B exon 1, two alleles were observed in DNA from blood; one of them identical to the sequence in the dog reference genome and containing 4 copies of a 12 bp repeat found only in the canine gene amongst all species so far sequenced; the other allele was shorter due to a missing copy of the repeat. Sequencing of this exon in 141 dogs from 18 different breeds revealed a polymorphic region involving a GGC triplet repeat and a GGGGACGGCGGC repeat. Seven alleles were recorded and sixteen of the eighteen breeds showed heterozygosity. CONCLUSION: Complex chromosome rearrangements were observed on chromosome 11 in two Labrador retriever fibrosarcomas. The chromosome alterations were reflected in the loss of sequences corresponding to two tumour suppressor genes involved in cell-cycle progression. Sequencing of CDKN2B across many different breeds revealed a widespread polymorphism within the first exon of the gene, immediately before the ankyrin coding sequences

Variación temporal de la morfología funcional del fitoplancton en una planicie inundable del Caribe colombiano

We analyzed temporal variation of morphology-based functional groups of phytoplankton (MBFG) in the Ayapel floodplain system, through the comparison of two previous samplings carried out between 2005 and 2007 and a new one made in 2015. The biovolume (mm3.l-1) and morphological features such as volume, surface area: volume ratio (S/V) and maximum linear dimension (MLD) were performed. Temporal analysis was carried out according to pluvial precipitation levels, and by means of a grouping analysis two previous periods (dry season and transition period) and a new one corresponding to 2015 (msENSO: dry season with ENSO influence) were defined. In the dry and transition seasons, the predominant group was GFBM III with high MLD (108.77 μm) and S/V ratios (1.44 μm), while in msENSO low biovolumes (0.016 mm3.l-1) and the predominance of GFBM V were observed. The comparison of functional morphology between years showed a transition from filamentous forms to flagellated forms of phytoplankton, allowing a better fit to the environmental pressure of the study area.Analizamos la variación temporal de los grupos funcionales basados en la morfología del fitoplancton (GFBM) en el sistema inundable de Ayapel a través de la comparación de dos muestreos previos realizados entre los 2005 y  2007 y uno nuevo hecho en el 2015. Se estimó el biovolumen (mm3.l-1) y los rasgos morfológicos como volumen, relación superficie/volumen (S/V) y dimensión linear máxima (DLM). El análisis temporal fue realizado acorde con los niveles de precipitación pluvial, y mediante un análisis de agrupamiento se definieron dos períodos previos (época seca y época de transición) y uno nuevo correspondiente al año 2015 (msENSO: época seca con influencia ENSO). En las épocas seca y de transición, el grupo predominante fue el GFBM III con altas DLM (108.77 µm) y relaciones S/V (1.44 µm), mientras que en el msENSO se observaron bajos biovolumenes (0.016 mm3.l-1) y la predominancia del GFBM V. La comparación de la morfología funcional entre los años evidenció la transición de formas filamentosas a formas flageladas del fitoplancton, permitiéndole un mejor ajuste ante las presiones ambientales del área de estudio

Ansiedad por la Imagen Corporal en Universitarios de Ciencias de la Salud Comparaciones por Sexo

El objetivo de esta investigación consistió comparar los perfiles de ansiedad por la imagen corporal de mujeres y hombres universitarios de ciencias de la salud. La muestra total fue de 443 universitarios; 201 mujeres y 242 hombres, con edades entre los 17 y 20 años. El abordaje adoptado en la investigación se enmarcó dentro de un enfoque cuantitativo con un diseño descriptivo tipo encuesta. Los resultados del análisis multivariante de la varianza, seguido por los análisis de varianza univariados, muestran que en general las mujeres manifiestan una mayor ansiedad en relación a las partes de su cuerpo que tienen que ver con peso corporal (F = 20.87, p &lt; .001) mientras que los hombres lo hacen por partes de su aspecto físico que no guardan relación con su peso corporal (F = 17.74, p &lt; .001). No obstante, es preciso desarrollar más investigación al respecto pues el tema trasciende del todo los alcances de la presente investigación. This paper focuses on comparing the anxiety profiles of body image in women and men of health sciences university students. A total sample of 443 university students (201 women and 242 men) aged between 17 to 20 years was used in this study. The approach adopted in the research was framed within a quantitative approach with a descriptive survey-type design. The results of the multivariate analysis of variance, followed by the univariate analyzes of variance, show that in general women manifest greater anxiety in relation to the parts of their body that have to do with body weight (F = 20.87, p &lt;. 001), while men do so for parts of their physical appearance that are not related to their body weight (F = 17.74, p &lt;.001). It is, therefore, important to carry out more research in this regard since the subject completely transcends the scope of the present study. &nbsp

Towards a Combined Use of Geophysics and Remote Sensing Techniques for the Characterization of a Singular Building: “El Torreón” (the Tower) at Ulaca Oppidum (Solosancho, Ávila, Spain)

This research focuses on the study of the ruins of a large building known as “El Torreón” (the Tower), belonging to the Ulaca oppidum (Solosancho, Province of Ávila, Spain). Different remote sensing and geophysical approaches have been used to fulfil this objective, providing a better understanding of the building’s functionality in this town, which belongs to the Late Iron Age (ca. 300–50 BCE). In this sense, the outer limits of the ruins have been identified using photogrammetry and convergent drone flights. An additional drone flight was conducted in the surrounding area to find additional data that could be used for more global interpretations. Magnetometry was used to analyze the underground bedrock structure and ground penetrating radar (GPR) was employed to evaluate the internal layout of the ruins. The combination of these digital methodologies (surface and underground) has provided a new perspective for the improved interpretation of “El Torreón” and its characteristics. Research of this type presents additional guidelines for better understanding of the role of this structure with regards to other buildings in the Ulaca oppidum. The results of these studies will additionally allow archaeologists to better plan future interventions while presenting new data that can be used for the interpretation of this archaeological complex on a larger scale

Aquatic and semiacuatic plants in three high andean rivers and its relationship with water physicochemistry

Los ríos de alta montaña presentan presiones antrópicas por la necesidad de abastecimiento de agua debido al crecimiento demográfico. En ese sentido, los elementos bióticos asociados a estos sistemas como la vegetación riparia y acuática, pueden verse afectados dados los cambios que la actividad humana ocasionan sobre las corrientes naturales de montaña. La presente investigación se desarrolló en tres ríos altoandinos, en jurisdicción del municipio de El Carmen de Viboral en el departamento de Antioquia, se establecieron cuatro muestreos para las tres estaciones, se midieron algunas variables fisicoquímicas para determinar su influencia en la estructura de la comunidad de hidrófitos y vegetación riparia. Se encontró que las variables más influyentes sobre la vegetación fueron caudal, pH, conductividad eléctrica, nutrientes, temperatura del agua y turbiedad. Por lo anterior se corroboró la hipótesis planteada, de que las variables fisicoquímicas influyen en la distribución de plantas acuáticas en los ríos andinos.High Andean Rivers have anthropic pressures due to the need for water supply due to population growth. Thus, the biotic elements associated with these systems, such as aquatic and semiaquatic vegetation, may be affected by the changes that human activity causes on natural mountain currents. This research was carried out in three rivers, in El Carmen de Viboral municipality, Antioquia department, four samples were established for the three stations, some physicochemical variables were measured to determine their influence on the structure of the hydrophyte community. In this investigation it was found that the most influence on variables for vegetation were flow, pH, electrical conductivity, nutrients, water temperature and turbidity. Due to the above, the hypothesis that the physicochemical variables influence the distribution of aquatic plants in the Andean rivers was corroborated.High Andean Rivers have anthropic pressures due to the need for water supply due to population growth. Thus, the biotic elements associated with these systems, such as aquatic and semiaquatic vegetation, may be affected by the changes that human activity causes on natural mountain currents. This research was carried out in three rivers, in El Carmen de Viboral municipality, Antioquia department, four samples were established for the three stations, some physicochemical variables were measured to determine their influence on the structure of the hydrophyte community. In this investigation it was found that the most influence on variables for vegetation were flow, pH, electrical conductivity, nutrients, water temperature and turbidity. Due to the above, the hypothesis that the physicochemical variables influence the distribution of aquatic plants in the Andean rivers was corroborated.Los ríos altoandinos presentan presiones antrópicas por la necesidad de abastecimiento de agua debido al crecimiento demográfico. En ese sentido, los elementos bióticos asociados a estos sistemas como la vegetación acuática y semiacuática, pueden verse afectados dados los cambios que la actividad humana ocasiona sobre las corrientes naturales de montaña. La presente investigación se desarrolló en tres ríos, en jurisdicción del municipio de El Carmen de Viboral en el departamento de Antioquia, se establecieron cuatro muestreos para las tres estaciones, se midieron algunas variables fisicoquímicas para determinar su influencia sobre la estructura de la comunidad de hidrófitos. Se encontró que las variables más influyentes sobre la vegetación fueron caudal, pH, conductividad eléctrica, nutrientes, temperatura del agua y turbiedad. Por lo anterior se corroboró la hipótesis planteada, de que las variables fisicoquímicas influyen en la distribución de plantas acuáticas en los ríos andino