Patología psiquiátrica en una muestra de pacientes alcohólicos abstinentes.

En una muestra de pacientes alcohólicos abstinentes, se estudia la presencia de patología psiquiátrica, por medio del Cuestionario de Salud General de Goldberg, resultando que los pacientes alcohólicos estudiados tienen una menor proporción de patología psiquiátrica en el primer año de abstinencia que la población general y que una muestra de pacientes con patología reumática

Patología psiquiátrica en una muestra de pacientes alcohólicos abstinentes.

En una muestra de pacientes alcohólicos abstinentes, se estudia la presencia de patología psiquiátrica, por medio del Cuestionario de Salud General de Goldberg, resultando que los pacientes alcohólicos estudiados tienen una menor proporción de patología psiquiátrica en el primer año de abstinencia que la población general y que una muestra de pacientes con patología reumática

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population

BACKGROUND: Retinitis pigmentosa (RP), a clinically and genetically heterogeneous group of retinal degeneration disorders affecting the photoreceptor cells, is one of the leading causes of genetic blindness. Mutations in the photoreceptor-specific gene RP1 account for 3–10% of cases of autosomal dominant RP (adRP). Most of these mutations are clustered in a 500 bp region of exon 4 of RP1. METHODS: Denaturing gradient gel electrophoresis (DGGE) analysis and direct genomic sequencing were used to evaluate the 5' coding region of exon 4 of the RP1 gene for mutations in 150 unrelated index adRP patients. Ophthalmic and electrophysiological examination of RP patients and relatives according to pre-existing protocols were carried out. RESULTS: Three novel disease-causing mutations in RP1 were detected: Q686X, K705fsX712 and K722fsX737, predicting truncated proteins. One novel missense mutation, Thr752Met, was detected in one family but the mutation does not co-segregate in the family, thereby excluding this amino acid variation in the protein as a cause of the disease. We found the Arg677Ter mutation, previously reported in other populations, in two independent families, confirming that this mutation is also present in a Spanish population. CONCLUSION: Most of the mutations reported in the RP1 gene associated with adRP are expected to encode mutant truncated proteins that are approximately one third or half of the size of wild type protein. Patients with mutations in RP1 showed mild RP with variability in phenotype severity. We also observed several cases of non-penetrant mutations

pitx2 Deficiency Results in Abnormal Ocular and Craniofacial Development in Zebrafish

Human PITX2 mutations are associated with Axenfeld-Rieger syndrome, an autosomal-dominant developmental disorder that involves ocular anterior segment defects, dental hypoplasia, craniofacial dysmorphism and umbilical abnormalities. Characterization of the PITX2 pathway and identification of the mechanisms underlying the anomalies associated with PITX2 deficiency is important for better understanding of normal development and disease; studies of pitx2 function in animal models can facilitate these analyses. A knockdown of pitx2 in zebrafish was generated using a morpholino that targeted all known alternative transcripts of the pitx2 gene; morphant embryos generated with the pitx2ex4/5 splicing-blocking oligomer produced abnormal transcripts predicted to encode truncated pitx2 proteins lacking the third (recognition) helix of the DNA-binding homeodomain. The morphological phenotype of pitx2ex4/5 morphants included small head and eyes, jaw abnormalities and pericardial edema; lethality was observed at ∼6–8-dpf. Cartilage staining revealed a reduction in size and an abnormal shape/position of the elements of the mandibular and hyoid pharyngeal arches; the ceratobranchial arches were also decreased in size. Histological and marker analyses of the misshapen eyes of the pitx2ex4/5 morphants identified anterior segment dysgenesis and disordered hyaloid vasculature. In summary, we demonstrate that pitx2 is essential for proper eye and craniofacial development in zebrafish and, therefore, that PITX2/pitx2 function is conserved in vertebrates

Spleen transcriptome response to infection with avian pathogenic Escherichia coli in broiler chickens

<p>Abstract</p> <p>Background</p> <p>Avian pathogenic <it>Escherichia coli </it>(APEC) is detrimental to poultry health and its zoonotic potential is a food safety concern. Regulation of antimicrobials in food-production animals has put greater focus on enhancing host resistance to bacterial infections through genetics. To better define effective mechanism of host resistance, global gene expression in the spleen of chickens, harvested at two times post-infection (PI) with APEC, was measured using microarray technology, in a design that will enable investigation of effects of vaccination, challenge, and pathology level.</p> <p>Results</p> <p>There were 1,101 genes significantly differentially expressed between severely infected and non-infected groups on day 1 PI and 1,723 on day 5 PI. Very little difference was seen between mildly infected and non-infected groups on either time point. Between birds exhibiting mild and severe pathology, there were 2 significantly differentially expressed genes on day 1 PI and 799 on day 5 PI. Groups with greater pathology had more genes with increased expression than decreased expression levels. Several predominate immune pathways, Toll-like receptor, Jak-STAT, and cytokine signaling, were represented between challenged and non-challenged groups. Vaccination had, surprisingly, no detectible effect on gene expression, although it significantly protected the birds from observable gross lesions. Functional characterization of significantly expressed genes revealed unique gene ontology classifications during each time point, with many unique to a particular treatment or class contrast.</p> <p>Conclusions</p> <p>More severe pathology caused by APEC infection was associated with a high level of gene expression differences and increase in gene expression levels. Many of the significantly differentially expressed genes were unique to a particular treatment, pathology level or time point. The present study not only investigates the transcriptomic regulations of APEC infection, but also the degree of pathology associated with that infection. This study will allow for greater discovery into host mechanisms for disease resistance, providing targets for marker assisted selection and advanced drug development.</p

Study of behaviour on simulated daylight ageing of artists¿ acrylic and poly(vinyl acetate) paint films

[EN] This work proposes a multi-method approach that combines advanced microscopy (SEM/EDX, AFM) and spectroscopy (UV-vis and FTIR) techniques. This approach not only characterises the behaviour of the additives of two commercial poly(vinyl acetate) (PVAc) and acrylic emulsion paints but also simultaneously characterises the changes in chemical composition and morphology observed in the paint films as a result of ageing due to the paints being exposed to an intense source of simulated daylight. In parallel, a series of mechanical tests were performed that correlate the chemical changes in composition and the changes observed in the films' mechanical properties. This work was a comparative study between both types of acrylic and PVAc paints. The results obtained are of great interest for the modern paint conservation field as they provide valuable information on the mid- and long-term behaviours of these synthetic paints.Financial support is gratefully acknowledged from the Spanish "I+D+I MICINN" project CTQ2008-06727-C03-01/BQU supported by ERDEF funds and from the "Generalitat Valenciana" I+D project ACOMP/2009/171 and the AP2006-3223 project ascribed to the Predoctoral Stages Programme of Universitary Researchers in Spanish Universities and Research Centres from the Spanish Ministry of Science and Innovation (MICINN). The authors wish to thank Mr. Manuel Planes i Insausti and Dr. Jose Luis Moya Lopez, the technical supervisors responsible for the Electron Microscopy Service at the Polytechnic University of Valencia.Domenech Carbo, MT.; Silva, MF.; Aura Castro, E.; Fuster López, L.; Kröner ., SU.; Martínez Bazán, ML.; Mas Barberà, X.... (2011). Study of behaviour on simulated daylight ageing of artists¿ acrylic and poly(vinyl acetate) paint films. Analytical and Bioanalytical Chemistry. 399:2921-2937. https://doi.org/10.1007/s00216-010-4294-3S2921293739