Portal veins of mice infected with Schistosoma mansoni exhibit an increased reactivity to 5-hydroxytryptamine

In chronic severe infection with Schistosoma mansoni, portal hypertension and related vascular alterations usually develop as a consequence of granulomatous response to eggs. In order to investigate a putative direct effect of worms on the reactivity of their host portal vein, mice infected only with male worms were used in the present study. An higher reactivity to 5-hydroxytryptamine (5-HT) characterized by an increase in the maximal contraction and sensitivity was observed in portal vein from infected mice compared to healthy mice. Blockade of NO-synthase with l-NAME induced a small increase in 5-HT potency in portal vein from non-infected mice without changing the amplitude of the contractions, whereas it did not alter the reactivity of veins from infected mice. The present results show that unisexual infection of mice with male S. mansoni increased the reactivity of the portal vein to 5-HT which seems to be partially related to an alteration in the nitric oxide release by endothelium.

De la baja de un buque de la Armada como recurso socio-económico y ambiental: estrategias para la cohesión y formación del tejido social, el futuro pesquero y la protección ambiental

En la actualidad, la Armada española cuenta con un total de 103 buques (LOBA, 2009). Cada uno de ellos tiene una misión específica de acuerdo a sus características. Dicha misión condicionará la vida útil del navío. Cuando un buque es dado de baja, surgen las siguientes preguntas: ¿Qué hacer con ellos? ¿Tienen alguna utilidad? ¿Generan un impacto ambiental? En este proyecto, se presentan diferentes propuestas que tienen como finalidad obtener el mayor beneficio del recurso. Cada una de ellas buscará el máximo rédito en aspectos como la cohesión en el tejido social y la socio-economía de una zona determinada y la protección del medio marino junto al futuro de la pesca de arrastre en nuestro país. A lo largo del trabajo, se verá la dificultad de desguazar buques con gran eslora en nuestros astilleros, así como también los problemas administrativos y políticos a los que se enfrentan asociaciones y ayuntamientos que quieren adquirir un buque, para convertirlo en un museo o en un pecio, respectivamente. El objetivo principal es dar a conocer cuál es la situación, pero sin entrar a determinar qué opción sería mejor para cada tipo de navío.

Molecular genetics of "PRPF31" dominant mutations linked to retinitis pigmentosa

ABSTRACT : The retina is one of the most important human sensory tissues since it detects and transmits all visual information from the outside world to the brain. Retinitis pigmentosa (RP) is the name given to a group of inherited diseases that affect specifically the photoreceptors present in the retina and in many instances lead to blindness. Dominant mutations in PRPF31, a gene that encodes for a pre-mRNA splicing factor, cause retinitis pigmentosa with reduced penetrance. We functionally investigated a novel mutation, identified in a large family with autosomal dominant RP, and 7 other mutations, substitutions and microdeletions, in 12 patients from 7 families with PRPF31-linked RP. Seven mutations lead to PRPF31 mRNA with premature stop codons and one to mRNA lacking the exon containing the initiation codon. Quantification of PRPF31 mRNA and protein levels revealed a significant reduction in cell lines derived from patients, compared to non carriers of mutations in PRPF31. Allelic quantification of PRPF31 mRNA indicated that the level of mutated mRNA is very low compared to wild-type mRNA. No mutant protein was detected and the subnuclear localization of wild-type PRPF31 remains the same in cell lines from patients and controls. Blocking nonsense-mediated mRNA decay in cell lines derived from patients partially restored PRPF31 mutated mRNA but derived proteins were still undetectable, even when protein degradation pathways were inhibited. Our results demonstrated that the vast majority of PRPF31 mutations result in null alleles, since they are subject to surveillance mechanisms that degrade mutated mRNA and possibly block its translation. Altogether, these data indicate that the likely cause of PRPF31-linked RP is haploinsufficiency, rather than a dominant negative effect. Penetrance of PRPF31 mutations has been previously demonstrated to be inversely correlated with the level of PRPF31 mRNA, since high expression of wild-type PRPF31 mRNA protects from the disease. Consequently, we have investigated the genetic modifiers that control the expression of PRPF31 by quantifying PRPF31 mRNA levels in cell lines derived from 200 individuals from 15 families representative of the general population. By linkage analyses we identified a 8.2Mb-region on chromosome 14q21-23 that contains a gene involved in the modulation of PRPF31 expression. We also assessed apreviously-mapped penetrance factor invariably located on the wild-type allele and linked to the PRPF31 locus in asymptomatic patients from different families with RP. We demonstrated that this modifier increases the expression of both PRPF31 alleles already at the pre-mRNA level. Finally, our data suggest that PRPF31 mRNA expression and consequently the penetrance of PRPF31 mutations is modulated by at least 2 diffusible compounds, which act on both PRPF31 alleles during their transcription.

Sex determination: why so many ways of doing it?

Sexual reproduction is an ancient feature of life on earth, and the familiar X and Y chromosomes in humans and other model species have led to the impression that sex determination mechanisms are old and conserved. In fact, males and females are determined by diverse mechanisms that evolve rapidly in many taxa. Yet this diversity in primary sex-determining signals is coupled with conserved molecular pathways that trigger male or female development. Conflicting selection on different parts of the genome and on the two sexes may drive many of these transitions, but few systems with rapid turnover of sex determination mechanisms have been rigorously studied. Here we survey our current understanding of how and why sex determination evolves in animals and plants and identify important gaps in our knowledge that present exciting research opportunities to characterize the evolutionary forces and molecular pathways underlying the evolution of sex determination.

DIP-STR: A new marker for resolving unbalanced DNA mixtures

The genetic characterization of unbalanced mixed stains remains an important area where improvementis imperative. Most cases of aggression, homicide and sexual assault produce biological traces withrelatively large amount of the victim's DNA and small amount of the aggressor's DNA. If this ratio issmaller than 1:10 it is currently not possible to obtain a conventional autosomal DNA profile of the minorcontributor, with potential loss of crucial DNA evidence. Y-STR analysis represents a solution for somecases but has several limitations. We propose here a method based on a new compound genetic markerformed by a Deletion/Insertion Polymorphism (DIP) linked to a Short Tandem Repeat polymorphism(STR), that we name DIP-STR. By means of allele-specific amplifications of DIP-STR haplotypes, we canproduce a high resolution autosomal DNA profile of a donor that contributes less than 0.1% to a DNAmixture. Based on these features DIP-STR markers may outperform conventional Y-STR markers inmixed stain analysis.

Phylogenetic Code in the Cloud - Can it Meet the Expectations?

Cloud computing has recently become very popular, and several bioinformatics applications exist already in that domain. The aim of this article is to analyse a current cloud system with respect to usability, benchmark its performance and compare its user friendliness with a conventional cluster job submission system. Given the current hype on the theme, user expectations are rather high, but current results show that neither the price/performance ratio nor the usage model is very satisfactory for large-scale embarrassingly parallel applications. However, for small to medium scale applications that require CPU time at certain peak times the cloud is a suitable alternative.

La ópera como integración de las artes : LSP 3.1

Embarcarse en la aventura de componer una ópera y llegar a materializarla con los mínimos recursos requiere de mucha imaginación e ilusión, de un trabajo constante y meditado, de un buen equipo de colaboradores, de fe ciega en que todo acabará funcionando y de lo más básico: un buen libreto. La serva padrona de Pergolesi nos demuestra cómo una historia sencilla y de recursos austeros puede llegar a ser tan tremendamente fresca, divertida y entretenida. Este intermezzo representará el punto de partida de una creación en la que la escena teatral y el discurso musical se fundirán de manera indivisible. Al fin y al cabo, la creación de una ópera supone asimilar desde buen principio que en ella convergen diferentes artes de índole muy diversa. Conseguir trabajar dentro de este marco de encuentro multidisciplinar es un privilegio que, sin duda, se debe aprovechar.

Les Variacions Goldberg

L’Ària amb diverses variacions BWV 988, quarta part dels Clavier-übung, de Johann Sebastian Bach, és una obra que ha estat objecte de molts estudis. La seva extrema bellesa, el sobrenom amb què avui la coneixem, Variacions Goldberg -a partir de la llegenda que explica Forkel sobre un comte que patia insomni i el seu clavecinista Goldberg- i la seva estructura interna tan perfectament calculada, alhora que generadora de grans preguntes complexes de respondre, fan d’aquesta obra un mite indiscutible de la literatura per a teclat que, des de fa més 250 anys, ens continua fascinant i la fa immortal. Aquest treball és una humil aproximació a aquests aspectes, que ens faran acostar-nos al món interior d’aquesta obra.

Seminar Report: Translating Research into Better Public Health: What Does it Mean for the CoE(NI)?

The workshop was attended by 13 people excluding facilitators. Most were from outside QUB (including Belfast City Council, NHSSB, BHSCT, Centre for Public Health, NICR, Institute of Agri-food and Land Use (QUB), etc).Programme was:Introductions Part 1: What’s “knowledge brokerage” all about?Presentation and Q&A (Kevin Balanda)Small group discussions Part 2: What the Centre of Excellence is doingPresentation and Q&A (Kevin Balanda)Small group discussions

Chronic Airflow Obstruction Briefing

The Chronic Conditions Hub is a website that brings together information on chronic health conditions. It allows you to easily access, manage and share relevant information resources. The Chronic Conditions Hub includes the Institute of Public Health in Ireland’s (IPH) estimates and forecasts of the number of people living with chronic conditions. On the Chronic Conditions Hub you will find: - A Briefing for each condition - Detailed technical documentation - Detailed national and sub-national data that can be downloaded or explored using online data tools - A prevalence tool that allows you to calculate prevalence figures for your population data Chronic airflow obstruction (CAO) is a chronic lung condition that interferes with normal breathing. For the purpose of this briefing, CAO includes chronic obstructive pulmonary disease (COPD), chronic bronchitis and emphysema. CAO is responsible for a substantial amount of early deaths, reduced quality of life and significant costs to the health and social care system and to the economy. The World Health Organization estimates that COPD is the fourth leading cause of death worldwide and predicts that it will soon become the third leading cause of death.

Diabetes Briefing

Diabetes mellitus is a group of metabolic disorders characterised by too much glucose in the blood. The body breaks down digested food into a sugar called glucose from which it derives energy. The hormone insulin allows the body to use that sugar by helping glucose to enter the cells. When a person has diabetes, either the pancreas fails to produce enough insulin or the body cannot properly use the insulin it has. As a result there is a build-up of glucose in the blood causing the cells to be starved of energy. The Chronic Conditions Hub is a website that brings together information on chronic health conditions. It allows you to easily access, manage and share relevant information resources. The Chronic Conditions Hub includes the Institute of Public Health in Ireland’s (IPH) estimates and forecasts of the number of people living with chronic conditions. On the Chronic Conditions Hub you will find:- A Briefing for each condition - Detailed technical documentation - Detailed national and sub-national data that can be downloaded or explored using online data tools