Franceschetti hereditary recurrent corneal erosion.

PURPOSE: To describe new affected individuals of Franceschetti's original pedigree of hereditary recurrent erosion and to classify a unique entity called Franceschetti corneal dystrophy. DESIGN: Observational case series. METHODS: Slit-lamp examination of 10 affected individuals was conducted. Biomicroscopic examinations were supplemented by peripheral corneal biopsy in 1 affected patient with corneal haze. Tissue was processed for light and electron microscopy and immunohistochemistry was performed. DNA analysis was carried out in 12 affected and 3 nonaffected family members. RESULTS: All affected individuals suffered from severe ocular pain in the first decade of life, attributable to recurrent corneal erosions. Six adult patients developed bilateral diffuse subepithelial opacifications in the central and paracentral cornea. The remaining 4 affected individuals had clear corneas in the pain-free stage of the disorder. Histologic and immunohistochemical examination of the peripheral cornea in a single patient showed a subepithelial, avascular pannus. There was negative staining with Congo red. DNA analysis excluded mutations in the transforming growth factor beta-induced (TGFBI) gene and in the tumor-associated calcium signal transducer 2 (TACSTD2) gene. CONCLUSION: We have extended the pedigree of Franceschetti corneal dystrophy and elaborated its natural history on the basis of clinical examinations. A distinctive feature is the appearance of subepithelial opacities in adult life, accompanied by a decreased frequency of recurrent erosion attacks. Its clinical features appear to distinguish it from most other forms of dominantly inherited recurrent corneal erosion reported in the literature.

El síndrome de burnout y los recortes sanitarios en los profesionales enfermeros del Hospital del Mar de Barcelona

El siguiente trabajo es un proyecto de un estudio cuantitativo observacional transversal sobreel personal enfermero del Hospital del Mar de Barcelona, con el objetivo de determinar de quéforman afectan la crisis económica y los recortes sanitarios en la aparición del síndrome delburnout y calidad de vida en los enfermeros/as. Este estudio puede servir de ayuda en unfuturo al diseño de una propuesta de intervención preventiva contextualizada a la situaciónlaboral que están viviendo los profesionales sanitarios de dicho hospital.Hipótesis: La crisis económica y los posteriores recortes sanitarios que han afectado a recursosmateriales, de personal y salariales, aumentan el síndrome de burnout en los profesionalesenfermeros.Metodología: Se utilizará un cuestionario como forma de recogida de datos, que constará dedos partes, la primera el MBI – HSS (Maslach Burnout Inventory)2, para poder identificar lossujetos con burnout, analizando tres dimensiones principales (cansancio emocional,despersonalización y realización personal). La segunda parte, es un cuestionario deelaboración propia, e incluirá variables de tipo sociodemográfico, además se realizaranpreguntas relacionadas con la crisis económica y los recortes sanitarios con tal decontextualizarlo al momento actual. Como medidas descriptivas se utilizarán la media, lamoda, desviación estándar y porcentaje de acuerdo al tipo de variable, estableciéndose laasociación entre variables mediante Spearman y Pearson. Para el análisis estadístico seutilizará el paquete estadístico SPSS versión 19 y triangulación con un grupo de profesionalesimplicados en el análisis de los resultados con tal de evaluar los riesgos psicosociales.

El discurs polític: la immigració com a pretext

El treball és una d’anàlisi del discurs polític que apareix en els programes electorals dels candidats a les presidencials franceses 2012, centrant l’atenció en el terme immigration. L’objectiu és identificar de quina manera expressen la seva ideologia, concretar les semblances, les divergències i els matisos que determinen en els seus discursos.

Isolation of cardiovascular precursor cells from the human fetal heart.

Weakening of cardiac function in patients with heart failure results from a loss of cardiomyocytes in the damaged heart. Cell replacement therapies as a way to induce myocardial regeneration in humans could represent attractive alternatives to classical drug-based approaches. However, a suitable source of precursor cells, which could produce a functional myocardium after transplantation, remains to be identified. In the present study, we isolated cardiovascular precursor cells from ventricles of human fetal hearts at 12 weeks of gestation. These cells expressed Nkx2.5 but not late cardiac markers such as α-actinin and troponin I. In addition, proliferating cells expressed the mesenchymal stem cell markers CD73, CD90, and CD105. Evidence for functional cardiogenic differentiation in vitro was demonstrated by the upregulation of cardiac gene expression as well as the appearance of cells with organized sarcomeric structures. Importantly, differentiated cells presented spontaneous and triggered calcium signals. Differentiation into smooth muscle cells was also detected. In contrast, precursor cells did not produce endothelial cells. The engraftment and differentiation capacity of green fluorescent protein (GFP)-labeled cardiac precursor cells were then tested in vivo after transfer into the heart of immunodeficient severe combined immunodeficient mice. Engrafted human cells were readily detected in the mouse myocardium. These cells retained their cardiac commitment and differentiated into α-actinin-positive cardiomyocytes. Expression of connexin-43 at the interface between GFP-labeled and endogenous cardiomyocytes indicated that precursor-derived cells connected to the mouse myocardium. Together, these results suggest that human ventricular nonmyocyte cells isolated from fetal hearts represent a suitable source of precursors for cell replacement therapies.

Análisis de las incoherencias entre texto e imagen en Los Simpson

En los productos audiovisuales, el canal oral y el visual transmiten información simultáneamente. Si la coherencia de sentido entre texto e imagen desaparece en el doblaje, el objetivo de verosimilitud no se satisface. En este trabajo analizo y clasifico las incoherencias texto-imagen y aporto posibles soluciones a este recurrente problema.

The Oncogene ATF3 Is Potentiated by Cyclosporine A and Ultraviolet Light A.

Cutaneous squamous cell carcinoma (SCC) represents the most important cutaneous complication following organ transplantation. It develops mostly on sun-exposed areas. A recent study showed the role of activating transcription factor 3 (ATF3) in SCC development following treatment with calcineurin inhibitors. It has been reported that ATF3, which may act as an oncogene, is under negative calcineurin/nuclear factor of activated T cells (NFAT) control and is upregulated by calcineurin inhibitors. Still, these findings do not fully explain the preferential appearance of SCC on chronically sun-damaged skin. We analyzed the influence of UV radiation on ATF3 expression and its potential role in SCC development. We found that ATF3 is a specifically induced AP1 member in SCC of transplanted patients. Its expression was strongly potentiated by combination of cyclosporine A and UVA treatment. UVA induced ATF3 expression through reactive oxygen species-mediated nuclear factor erythroid 2-related factor 2 (NRF2) activation independently of calcineurin/NFAT inhibition. Activated NRF2 directly binds to ATF3 promoter, thus inducing its expression. These results demonstrate two mechanisms that independently induce and, when combined together, potentiate the expression of ATF3, which may then force SCC development. Taking into account the previously defined role of ATF3 in the SCC development, these findings may provide an explanation and a mechanism for the frequently observed burden on SCCs on sun-exposed areas of the skin in organ transplant recipients treated by calcineurin inhibitors.

Entrenament d'un ciclista esprinter mitjançant la força explosiva: avaluació dels efectes d'un entrenament específic

La principal fita dels ciclistes ha estat sempre l’entrenament per millorar les seves condicions i prestacions fisiològiques. Al llarg dels anys, el ciclisme com pràcticament tot l’esport s’ha anat modernitzant, no només tecnològicament. Això ha provocat l’aparició d’especialistes, corredors destinats a destacar, només en unes determinades condicions, per sobre els demés. Una d’aquestes condicions més restringides son les arribades massives, terreny dels anomenats esprinters, els quals brillen per sobre els demés degut a la seva potència, velocitat punta i arrancada. L’entrenament d’aquesta tipologia d’especialitat ha deixat entreveure varies ambigüitats i algunes problemàtiques de fonament teòric. L’esprint en el ciclisme es dona després d’un gran desgast de les reserves energètiques i de fatiga muscular. Per tant, entrenar-lo amb blocs de velocitat no té lògica. Tampoc es una opció viable el recurs que molts equips utilitzen: agafar corredors joves de la pista, i que la seva genètica (fibres ràpides) i les seves característiques de pistard1 facin la resta, perquè al pas dels anys perden aquesta exclusivitat. Aquest estudi es proposa buscar una manera de treballar i potenciar l’esprint del ciclista a partir de la força explosiva, garantint preservar les condicions aeròbiques per tal de que no perjudiqui per altra banda la seva resistència. Per tal d’aconseguir-ho, s’efectuaran uns tests. Un focalitzat en mesurar les prestacions en un esprint dels subjectes. L’altra es basarà en avaluar la força explosiva d’aquets, a partir de salts verticals. Un cop obtinguts els resultats de la primera tanda, els subjectes seran sotmesos a un entrenament combinat de sobrecàrrega, per tal de observar, en la segona tanda, si els resultats son significatius. Com a conclusió, es podria destacar el fet de millora en la majoria d’aspectes en tots els tests per part de tots els subjectes, i que probablement, hi ha una correlació significativa entre la força explosiva i la capacitat per esprintar, tot i que s’haurien de corroborar els resultats amb una mostra més gran.

Enchondromatosis revisited: New classification with molecular basis.

The so-called "enchondromatoses" are skeletal disorders defined by the presence of ectopic cartilaginous tissue within bone tissue. The clinical and radiographic features of the different enchondromatoses are distinct, and grouping them does not reflect a common pathogenesis but simply a similar radiographic appearance and thus the need for a differential diagnosis. Recent advances in the understanding of their molecular and cellular bases confirm the heterogeneous nature of the different enchondromatoses. Some, like Ollier disease, Maffucci disease, metaphyseal chondromatosis with hydroxyglutaric aciduria, and metachondromatosis are produced by a dysregulation of chondrocyte proliferation, while others (such as spondyloenchondrodysplasia or dysspondyloenchondromatosis) are caused by defects in structure or metabolism of cartilage or bone matrix. In other forms (e.g., the dominantly inherited genochondromatoses), the basic defect remains to be determined. The classification, proposed by Spranger and associates in 1978 and tentatively revised twice, was based on the radiographic appearance, the anatomic sites involved, and the mode of inheritance. The new classification proposed here integrates the molecular genetic advances and delineates phenotypic families based on the molecular defects. Reference radiographs are provided to help in the diagnosis of the well-defined forms. In spite of advances, many cases remain difficult to diagnose and classify, implying that more variants remain to be defined at both the clinical and molecular levels. © 2012 Wiley Periodicals, Inc.

Increased trimipramine plasma levels during fluvoxamine comedication.

A depressive patient, a non-responder to trimipramine (TRI), was comedicated first with citalopram (CIT) and then with fluvoxamine (FLUV). Both the TRI-CIT and TRI-FLUV combination treatments led to a worsening of the depressive state and to the appearance of panic attacks. The addition of FLUV to TRI resulted in a twofold increase of the plasma levels of TRI and to a slight increase of its N-demethylated and 2-hydroxylated metabolites. These results suggest that the interaction between FLUV and TRI occurred at the level of cytochrome P-450IID6 and cytochrome P-450meph in this patient, phenotyped as an extensive metabolizer of both dextromethorphan and mephenytoin. The adverse effects were possibly due to (a) a pharmacokinetic interaction between CIT and FLUV with TRI and/or (b) alterations in serotonergic and/or dopaminergic neurotransmission.

The use of micro-XRD for the study of glaze color decorations

The compounds responsible for the colours and decorations in glass and glazed ceramics include: colouring agents (transition metal ions), pigments (micro-and nano-precipitates of compounds that either do not dissolve or recrystallize in the glassy matrix) and opacifiers (microcrystalline compounds with high light scattering capability). Their composition, structure and range of stability are highly dependent not only on the composition but also on the procedures followed to obtain them. Chemical composition of the colorants and crystallites may be obtained by means of SEM-EDX and WDX. Synchrotron Radiation micro-X-ray Diffraction has a small beam size adequate (10 to 50 microns footprint size) to obtain the structural information of crystalline compounds and high brilliance, optimal for determining the crystallites even when present in low amounts. In addition, in glass decorations the crystallites often appear forming thin layers (from 10 to 100 micrometers thick) and they show a depth dependent composition and crystal structure. Their nature and distribution across the glass/glazes decorations gives direct information on the technology of production and stability and may be related to the color and appearance. A selection of glass and glaze coloring agents and decorations are studied by means of SR-micro- XRD and SEM-EDX including: manganese brown, antimony yellow, red copper lusters and cobalt blue. The selection includes Medieval (Islamic, and Hispano Moresque) and renaissance tin glazed ceramics from the 10th to the 17th century AD.

Assessment of drug compliance in patients with high blood pressure resistant to antihypertensive therapy.

The persistence of high blood pressure under antihypertensive treatment (resistant hypertension) entails an increased cardiovascular risk. It occurs in three of ten treated hypertensive patients, and has several possible contributing factors, notably insufficient therapeutic adherence. There are a number of ways to evaluate whether patients take their medication as prescribed. These include interviewing the patient, pill counting, prescription follow-up, assay of drugs in blood or urine, and use of electronic pill dispensers. None is perfect. However, the essential is to discuss with the patient the importance of complying with the treatment as soon as it is prescribed for the first time, and not waiting for the appearance of resistant hypertension. The measurement of blood pressure outside the medical office and the monitoring of adherence may help to identify patients in whom hypertension is truly resistant and so to tailor the measures required to improve the control of blood pressure in the most appropriate manner.

Pattern dystrophy with high intrafamilial variability associated with Y141C mutation in the peripherin/RDS gene and successful treatment of subfoveal CNV related to multifocal pattern type with anti-VEGF (ranibizumab) intravitreal injections.

OBJECTIVE: To identify disease causing mutation in three generations of a Swiss family with pattern dystrophy and high intrafamilial variability of phenotype. To assess the effect of intravitreal ranibizumab injections in the treatment of subfoveal choroidal neovascularization associated with pattern dystrophy in one patient. METHODS: Affected family members were ascertained for phenotypic and genotypic characterization. Ophthalmic evaluations included fundus photography, autofluorescence imaging, optical coherence tomography, and International Society for Clinical Electrophysiology of Vision standard full-field electroretinography. When possible family members had genetic testing. The proband presented with choroidal neovascularization and had intravitreal injections as needed according to visual acuity and optical coherence tomography. RESULTS: Proband had a multifocal type pattern dystrophy, and his choroidal neovascularization regressed after four intravitreal injections. The vision improved from 0.8 to 1.0, and optical coherence tomography showed complete anatomical restoration. A butterfly-shaped pattern was observed in her cousin, whereas a fundus pulverulentus pattern was seen in a second cousin. Aunt had a multifocal atrophic appearance, simulating geographic atrophy in age-related macular degeneration. The Y141C mutation was identified in the peripherin/RDS gene and segregated with disease in the family. CONCLUSION: This is the first report of marked intrafamilial variation of pattern dystrophy because of peripherin/RDS Y141C mutation. Intravitreal ranibizumab injections might be a valuable treatment for associated subfoveal choroidal neovascularization.

Investigation of Highway Lighting, HR-154, 1976

The Iowa State Highway Commission initiated this research to evaluate a new lowering device for tower luminaires and a new concept of tower luminaire light distribution. Lighting at the West interchange of I-80, I-35, and I-235 in Polk County was also designated as an FHWA experimental project. As highway lighting has become more widely used, highway officials recognized the increasing importance of reducing safety hazards and improving aesthetic appearance of lighting installations. Also, lighting construction, energy, and maintenance costs were absorbing a larger share of the maintenance budget. A search began for a method of lighting whereby the fixed objects by the roadside could be eliminated or reduced in number, the costs could be reduced and the quality of lighting improved over existing methods. Lack of design data in this area illustrated the need for research.

RNA interference mitigates motor and neuropathological deficits in a cerebellar mouse model of machado-joseph disease.

Machado-Joseph disease or Spinocerebellar ataxia type 3 is a progressive fatal neurodegenerative disorder caused by the polyglutamine-expanded protein ataxin-3. Recent studies demonstrate that RNA interference is a promising approach for the treatment of Machado-Joseph disease. However, whether gene silencing at an early time-point is able to prevent the appearance of motor behavior deficits typical of the disease when initiated before onset of the disease had not been explored. Here, using a lentiviral-mediated allele-specific silencing of mutant ataxin-3 in an early pre-symptomatic cerebellar mouse model of Machado-Joseph disease we show that this strategy hampers the development of the motor and neuropathological phenotypic characteristics of the disease. At the histological level, the RNA-specific silencing of mutant ataxin-3 decreased formation of mutant ataxin-3 aggregates, preserved Purkinje cell morphology and expression of neuronal markers while reducing cell death. Importantly, gene silencing prevented the development of impairments in balance, motor coordination, gait and hyperactivity observed in control mice. These data support the therapeutic potential of RNA interference for Machado-Joseph disease and constitute a proof of principle of the beneficial effects of early allele-specific silencing for therapy of this disease.

El poblament rural del Camp de Tarragona en època tardo-republicana (segles II-I aC)

This project consists of a study of the settlement of population during the Late Republican period in the Camp de Tarragona, an extensive agricultural plain in the shape of a crescent moon opening out towards the sea which constitutes the area of land in closest proximity to the capital, Tarraco. It does not therefore include the entirety of the ager Tarraconensis, which covered a considerably larger area. After reviewing the preceding Iberian presence in the area, the study focuses on the archaeological evidence corroborating the settlement of population referred to above and its evolution during the course of the two centuries prior to the rule of Augustus. Attention is also given to certain speciic themes, such as the centuriation of certain sectors, the presence of military checkpoints, the production of ceramics during the Republican period (at Fontscaldes and Valls) and the appearance of the irst Roman villas (El Moro and El Mas d’en Gras).