Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome

Background: Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS patients are unclassified. Reports on the pathogenicity of the c.1852_1853AA>GC (p.Lys618Ala) variant of the MLH1 gene are conflicting. In this study, we provide new evidence indicating that this variant has no significant implications for LS.Methods: The following approach was used to assess the clinical significance of the p.Lys618Ala variant: frequency in a control population, case-control comparison, co-occurrence of the p.Lys618Ala variant with a pathogenic mutation, co-segregation with the disease and microsatellite instability in tumours from carriers of the variant. We genotyped p.Lys618Ala in 1034 individuals (373 sporadic colorectal cancer [CRC] patients, 250 index subjects from families suspected of having LS [revised Bethesda guidelines] and 411 controls). Three well-characterized LS families that fulfilled the Amsterdam II Criteria and consisted of members with the p.Lys618Ala variant were included to assess co-occurrence and co-segregation. A subset of colorectal tumour DNA samples from 17 patients carrying the p.Lys618Ala variant was screened for microsatellite instability using five mononucleotide markers.Results: Twenty-seven individuals were heterozygous for the p.Lys618Ala variant; nine had sporadic CRC (2.41%), seven were suspected of having hereditary CRC (2.8%) and 11 were controls (2.68%). There were no significant associations in the case-control and case-case studies. The p.Lys618Ala variant was co-existent with pathogenic mutations in two unrelated LS families. In one family, the allele distribution of the pathogenic and unclassified variant was in trans, in the other family the pathogenic variant was detected in the MSH6 gene and only the deleterious variant co-segregated with the disease in both families. Only two positive cases of microsatellite instability (2/17, 11.8%) were detected in tumours from p.Lys618Ala carriers, indicating that this variant does not play a role in functional inactivation of MLH1 in CRC patients.Conclusions: The p.Lys618Ala variant should be considered a neutral variant for LS. These findings have implications for the clinical management of CRC probands and their relatives.

Metodología para el análisis de la opinión pública y la comunicación política en Internet

Para muchos tipos de investigación en ciencias sociales existe la necesidad deobtener información sobre la opinión pública. Internet puede ayudar a satisfacer esta necesidad porque es una fuente de información fácilmente accesible. Este trabajo pretende establecer una metodología de análisis completa y coherente y para ellodesarrolla un análisis de las herramientas, métodos y teorías utilizadas en el análisis de la opinión pública en Internet. Ya que la idea de opinión pública en que me baso sefundamenta en la organización temática de la misma, analizo las teorías clásicas de laagenda-setting y de la tematización. Sin embargo, la característica complejidad de lasociedad actual y la fragmentación de la agenda pública hacen necesario estudiar elnuevo sistema comunicativo desde perspectivas menos deterministas. La teoría de redes complejas permite analizar los fenómenos de emergencia temática y autoorganización desde una perspectiva más amplia que tiene en cuenta los numerosos factores que determinan el funcionamiento del sistema comunicativo actual

Características geológicas y geotécnicas de los lodos de flotación de la Sierra Minera de Cartagena-La Unión (SE España)

We present the results of a geological and geotechnical characterization of the metallurgic waste from the Sierra Minera de Cartagena-La Union. We have studied eight tailings dams from which we collected and analysed 42 samples of metallurgic waste. We measured grainsize distribution, the specific gravity of solid particles, plasticity index, permeability, both in situ and in the laboratory, direct shear characteristicsand moisture content. According to size distribution the tailings can be classified as sandy silt. Their plasticity index ranges from medium to nil. The internal friction angle varies between 28 and 42 degrees. Cohesion is between 0 and 2.2 t/m2. The specific gravity of the solid particles ranges widely from 1.8 to 4 g/cm3. The saturated hydraulic conductivity values vary between 1.3x 10-5 and 3.2x 10-9 m/s.The water content measured in situ shows that the degree of saturation remains relatively high despite low rainfall and high evaporation rates. Several tailings dams have failed. The leading causes of tailings-dam failure are: 1) slope instability; 2) overflow; 3) erosion; and 4) subsidence or collapse. The main factor leading to dam failure is that the tailings stored in the ponds are highly saturated

Group motivational intervention in overweight/obese patients in primary prevention of cardiovascular disease in the primary healthcare area

Background The global mortality caused by cardiovascular disease increases with weight. The Framingham study showed that obesity is a cardiovascular risk factor independent of other risks such as type 2 diabetes mellitus, dyslipidemia and smoking. Moreover, the main problem in the management of weight-loss is its maintenance, if it is achieved. We have designed a study to determine whether a group motivational intervention, together with current clinical practice, is more efficient than the latter alone in the treatment of overweight and obesity, for initial weight loss and essentially to achieve maintenance of the weight achieved; and, secondly, to know if this intervention is more effective for reducing cardiovascular risk factors associated with overweight and obesity. Methods This 26-month follow up multi-centre trial, will include 1200 overweight/obese patients. Random assignment of the intervention by Basic Health Areas (BHA): two geographically separate groups have been created, one of which receives group motivational intervention (group intervention), delivered by a nurse trained by an expert phsychologist, in 32 group sessions, 1 to 12 fortnightly, and 13 to 32, monthly, on top of their standard program of diet, exercise, and the other (control group), receiving the usual follow up, with regular visits every 3 months. Discussion By addressing currently unanswered questions regarding the maintenance in weight loss in obesity/overweight, upon the expected completion of participant follow-up in 2012, the IMOAP trial should document, for the first time, the benefits of a motivational intervention as a treatment tool of weight loss in a primary care setting.

La inclusió a l'aula a través de l'aprenentatge cooperatiu i "l'emoció de conèixer" : anàlisi de la incidència de les estructures cooperatives d'aprenentatge i del projecte amb "l'emoció de conèixer” a partir de dos anàlisi de casos

Aquest document vol exemplificar com mitjançant l’aplicació d’estratègies metodològiques inclusives concretes es pot millorar la situació d’inclusió de dos infants en les seves aules ordinàries. Per tal de dur a terme aquest objectiu el que es fa és oferir una proposta d’innovació didàctica a partir d’estructures cooperatives d’aprenentatge i de l’estratègia metodològica “L’emoció de conèixer” perquè aquests infants augmentin en presència, participació i progrés per acabar sent inclosos significativament dins dels seus grups-classe. Paral·lelament s’analitza la incidència sobre els dos infants de les propostes que s’han dut a la pràctica per valorar-ne el grau d’efectivitat en relació a la millora de la inclusió.

Group motivational intervention in overweight/obese patients in primary prevention of cardiovascular disease in the primary healthcare area

Background The global mortality caused by cardiovascular disease increases with weight. The Framingham study showed that obesity is a cardiovascular risk factor independent of other risks such as type 2 diabetes mellitus, dyslipidemia and smoking. Moreover, the main problem in the management of weight-loss is its maintenance, if it is achieved. We have designed a study to determine whether a group motivational intervention, together with current clinical practice, is more efficient than the latter alone in the treatment of overweight and obesity, for initial weight loss and essentially to achieve maintenance of the weight achieved; and, secondly, to know if this intervention is more effective for reducing cardiovascular risk factors associated with overweight and obesity. Methods This 26-month follow up multi-centre trial, will include 1200 overweight/obese patients. Random assignment of the intervention by Basic Health Areas (BHA): two geographically separate groups have been created, one of which receives group motivational intervention (group intervention), delivered by a nurse trained by an expert phsychologist, in 32 group sessions, 1 to 12 fortnightly, and 13 to 32, monthly, on top of their standard program of diet, exercise, and the other (control group), receiving the usual follow up, with regular visits every 3 months. Discussion By addressing currently unanswered questions regarding the maintenance in weight loss in obesity/overweight, upon the expected completion of participant follow-up in 2012, the IMOAP trial should document, for the first time, the benefits of a motivational intervention as a treatment tool of weight loss in a primary care setting.

Economic evaluation of the levonorgestrel-releasing intrauterine system for the treatment of dysfunctional uterine bleeding in Spain

To compare the cost and effectiveness of the levonorgestrel-releasing intrauterine system (LNG-IUS) versus combined oral contraception (COC) and progestogens (PROG) in first-line treatment of dysfunctional uterine bleeding (DUB) in Spain. STUDY DESIGN: A cost-effectiveness and cost-utility analysis of LNG-IUS, COC and PROG was carried out using a Markov model based on clinical data from the literature and expert opinion. The population studied were women with a previous diagnosis of idiopathic heavy menstrual bleeding. The analysis was performed from the National Health System perspective, discounting both costs and future effects at 3%. In addition, a sensitivity analysis (univariate and probabilistic) was conducted. RESULTS: The results show that the greater efficacy of LNG-IUS translates into a gain of 1.92 and 3.89 symptom-free months (SFM) after six months of treatment versus COC and PROG, respectively (which represents an increase of 33% and 60% of symptom-free time). Regarding costs, LNG-IUS produces savings of 174.2-309.95 and 230.54-577.61 versus COC and PROG, respectively, after 6 months-5 years. Apart from cost savings and gains in SFM, quality-adjusted life months (QALM) are also favourable to LNG-IUS in all scenarios, with a range of gains between 1 and 2 QALM compared to COC and PROG. CONCLUSIONS: The results indicate that first-line use of the LNG-IUS is the dominant therapeutic option (less costly and more effective) in comparison with first-line use of COC or PROG for the treatment of DUB in Spain. LNG-IUS as first line is also the option that provides greatest health-related quality of life to patients.

Políticas de información, bibliotecas universitarias y desarrollo: reflexiones desde la cooperación universitaria

Reflexión sobre la interacción entre políticas nacionales de información y proyectos de cooperación al desarrollo en el campo de las bibliotecas universitarias y de investigación. Se analiza la evolución del concepto políticas de información, su relación con la cooperación al desarrollo, y el papel central que durante casi setenta años ha tenido en la Unesco en dicha dinámica. Finalmente se reflexiona sobre escenarios de cooperación en los que los profesionales de las bibliotecas universitarias y de investigación de países en desarrollo podrían desarrollar proyectos alineados con las políticas nacionales de información.

Economic evaluation of the levonorgestrel-releasing intrauterine system for the treatment of dysfunctional uterine bleeding in Spain

To compare the cost and effectiveness of the levonorgestrel-releasing intrauterine system (LNG-IUS) versus combined oral contraception (COC) and progestogens (PROG) in first-line treatment of dysfunctional uterine bleeding (DUB) in Spain. STUDY DESIGN: A cost-effectiveness and cost-utility analysis of LNG-IUS, COC and PROG was carried out using a Markov model based on clinical data from the literature and expert opinion. The population studied were women with a previous diagnosis of idiopathic heavy menstrual bleeding. The analysis was performed from the National Health System perspective, discounting both costs and future effects at 3%. In addition, a sensitivity analysis (univariate and probabilistic) was conducted. RESULTS: The results show that the greater efficacy of LNG-IUS translates into a gain of 1.92 and 3.89 symptom-free months (SFM) after six months of treatment versus COC and PROG, respectively (which represents an increase of 33% and 60% of symptom-free time). Regarding costs, LNG-IUS produces savings of 174.2-309.95 and 230.54-577.61 versus COC and PROG, respectively, after 6 months-5 years. Apart from cost savings and gains in SFM, quality-adjusted life months (QALM) are also favourable to LNG-IUS in all scenarios, with a range of gains between 1 and 2 QALM compared to COC and PROG. CONCLUSIONS: The results indicate that first-line use of the LNG-IUS is the dominant therapeutic option (less costly and more effective) in comparison with first-line use of COC or PROG for the treatment of DUB in Spain. LNG-IUS as first line is also the option that provides greatest health-related quality of life to patients.

De Andrew Carnegie a OverDrive, Amazon y ¿algo más? Biblioteca pública y préstamo de libros digitales en Estados Unidos

Ressenya de: 2012 survey of ebook usage in U.S. public libraries: third annual survey. LJ/SLJ Library Research Syndicate (LRS). [New York, N.Y.]: Library Journal, 2012. 108 p. Disponible en línia a: [Consulta: 27 feb. 2013].

BCNdeporteymas

"www.BCNdeporteymas" es un proyecto concebido para web, aplicaciones móviles y tableta sobre la práctica deportiva en la ciudad de Barcelona y sus principales eventos deportivos.