Multiple pulmonary artery aneurysms in tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is a rare genetic disorder characterised by multiple hamartomas, caused by inactivating mutations of the TSC1/TSC2 tumour suppressor genes. Classical pulmonary involvement in tuberous sclerosis complex (TSC) consists of lymphangioleiomyomatosis and/or multiple micronodular pneumocyte hyperplasia (MMPH). Association of TSC with pulmonary artery aneurysm (PAA) has been only exceptionally described. We report here the first case of TSC with multiple PAA in combination with MMPH, cardiac rhabdomyomas and bone, skin and brain involvement.

Apego adulto en mujeres adoptadas: un estudio de caso sobre su relación con la construcción de la identidad

En este estudio partimos de un posicionamiento constructivista relacional (Botella, Herrero, Pacheco y Corbella, 2004) y de la Teoría del Apego (Bowlby, 1969) para el análisis del apego adulto y de su relación con la construcción de la identidad de una mujer de treinta y cinco años (Sara), adoptada a los tres. Es una investigación metodológicamente plural, puesto que incluye tanto metodologías cuantitativas como cualitativas. Analizamos una narrativa de identidad de Sara, mediante el método cualitativo de Grounded Theory (Glaser y Strauss, 1967). Administramos también el cuestionario ECR-S (Alonso-Arbiol, Balluerka y Shaver, 2007) para evaluar el apego adulto y la Rejilla de Constructos Personales (Kelly, 1955/1991) referida a la construcción del sí mismo (Butt, Burr y Bell, 1997) analizada mediante el programa RECORD (Feixas y Cornejo, 1996). Los resultados confirman la literatura previa (por ejemplo, Grosso y Nagliero, 2004; Negre, Forns y Freixa, 2007) y muestran una reconstrucción positiva en el modelo de funcionamiento interno de Sara, a partir de la resolución de dudas sobre su origen biológico. Los resultados del análisis de la Rejilla confirman que las características del patrón de apego con la madre y con el padre no tienen por qué ser similares y que una mujer puede construir su posicionamiento como madre a partir de la relación con su padre. También indican la presencia de conflictos cognitivos en la construcción de la identidad. Los resultados se discuten a la luz de investigaciones previas.

Substrate-selective repair and restart of replication forks by DNA translocases

Stalled replication forks are sources of genetic instability. Multiple fork-remodeling enzymes are recruited to stalled forks, but how they work to promote fork restart is poorly understood. By combining ensemble biochemical assays and single-molecule studies with magnetic tweezers, we show that SMARCAL1 branch migration and DNA-annealing activities are directed by the single-stranded DNA-binding protein RPA to selectively regress stalled replication forks caused by blockage to the leading-strand polymerase and to restore normal replication forks with a lagging-strand gap. We unveil the molecular mechanisms by which RPA enforces SMARCAL1 substrate preference. E. coli RecG acts similarly to SMARCAL1 in the presence of E. coli SSB, whereas the highly related human protein ZRANB3 has different substrate preferences. Our findings identify the important substrates of SMARCAL1 in fork repair, suggest that RecG and SMARCAL1 are functional orthologs, and provide a comprehensive model of fork repair by these DNA translocases.

Análisis comparativo del "inventario de actitudes y creencias" (ABI) y la "escala de actitudes disfuncionales" (DAS)

De acuerdo con los planteamientos de la Terapia Cognitiva (TC) de Aaron Beck y la terapia Racional Emotivo Conductual (TREC) de Albert Ellis, el mantenimiento de creencias rígidas y actitudes disfuncionales constituyen factores de vulnerabilidad a los trastornos psicológicos. En base a estos planteamientos, la adecuada evaluación de las creencias y actitudes disfuncionales es fundamental, no sólo para saber cuáles están en el origen y mantenimiento de la perturbación emocional que puede aquejar a una persona, sino también para su cambio y prevención, e incluso para la promoción de actitudes más funcionales o saludables.El presente estudio se centra específicamente en el análisis de las similitudes y diferencias existentes entre los instrumentos de evaluación de las creencias y actitudes disfuncionales elaborados desde tales enfoques teóricos. Concretamente, entre el Inventario de Actitudes y Creencias (ABI) y la Escala de Actitudes Disfuncionales (DAS) desarrollados desde la perspectiva de la TREC y la TC, respectivamente. Para ello se han administrado sendos cuestionarios a una muestra de 156 estudiantes universitarios con un rango de edad comprendido entre los 19 y 57 años (media: 22.03; desviación típica: 5.09), y sus puntuaciones se han sometido a diversos análisis de correlación (de Spearman y canónica) y de regresión para verificar el grado de variancia compartida, así como a un análisis factorial de componentes principales (ACP) para comprobar la estructura de la agrupación de las escalas respectivas...

Rapid LC-MS/MS quantification of the major benzodiazepines and their metabolites on dried blood spots using a simple and cost-effective sample pretreatment.

BACKGROUND: Dried blood spots (DBS) sampling has gained popularity in the bioanalytical community as an alternative to conventional plasma sampling, as it provides numerous benefits in terms of sample collection and logistics. The aim of this work was to show that these advantages can be coupled with a simple and cost-effective sample pretreatment, with subsequent rapid LC-MS/MS analysis for quantitation of 15 benzodiazepines, six metabolites and three Z-drugs. For this purpose, a simplified offline procedure was developed that consisted of letting a 5-µl DBS infuse directly into 100 µl of MeOH, in a conventional LC vial. RESULTS: The parameters related to the DBS pretreatment, such as extraction time or internal standard addition, were investigated and optimized, demonstrating that passive infusion in a regular LC vial was sufficient to quantitatively extract the analytes of interest. The method was validated according to international criteria in the therapeutic concentration ranges of the selected compounds. CONCLUSION: The presented strategy proved to be efficient for the rapid analysis of the selected drugs. Indeed, the offline sample preparation was reduced to a minimum, using a small amount of organic solvent and consumables, without affecting the accuracy of the method. Thus, this approach enables simple and rapid DBS analysis, even when using a non-DBS-dedicated autosampler, while lowering the costs and environmental impact.

Oeuvres de Tacite ; 2-3. Annales de Tacite, en latin et en français. T. 2, 1 / Regnes de Tibère et de Caïus. Troisième édition, revue et corrigée ; par J. H. Dotteville,...

[Annales (français-latin). 1793]

Oeuvres de Tacite ; 2-3. Annales de Tacite, en latin et en français. T. 3, 2 / Regnes de Tibère et de Caïus. Troisième édition, revue et corrigée ; par J. H. Dotteville,...

[Annales (français-latin). 1793]

Investigation of classical epidemiological links between patients harbouring identical, non-predominant meticillin-resistant Staphylococcus aureus genotypes and lessons for epidemiological tracking.

According to molecular epidemiology theory, two isolates belong to the same chain of transmission if they are similar according to a highly discriminatory molecular typing method. This has been demonstrated in outbreaks, but is rarely studied in endemic situations. Person-to-person transmission cannot be established when isolates of meticillin-resistant Staphylococcus aureus (MRSA) belong to endemically predominant genotypes. By contrast, isolates of infrequent genotypes might be more suitable for epidemiological tracking. The objective of the present study was to determine, in newly identified patients harbouring non-predominant MRSA genotypes, whether putative epidemiological links inferred from molecular typing could replace classical epidemiology in the context of a regional surveillance programme. MRSA genotypes were defined using double-locus sequence typing (DLST) combining clfB and spa genes. A total of 1,268 non-repetitive MRSA isolates recovered between 2005 and 2006 in Western Switzerland were typed: 897 isolates (71%) belonged to four predominant genotypes, 231 (18%) to 55 non-predominant genotypes, and 140 (11%) were unique. Obvious epidemiological links were found in only 106/231 (46%) patients carrying isolates with non-predominant genotypes suggesting that molecular surveillance identified twice as many clusters as those that may have been suspected with classical epidemiological links. However, not all of these molecular clusters represented person-to-person transmission. Thus, molecular typing cannot replace classical epidemiology but is complementary. A prospective surveillance of MRSA genotypes could help to target epidemiological tracking in order to recognise new risk factors in hospital and community settings, or emergence of new epidemic clones.