Avaluació de la formació inicial dels mestres de música de la UAB en l’àmbit de la direcció musical

En aquest treball analitzem el procés de formació dels mestres de música de la UAB en l’àmbit de la direcció musical i avaluem si allò que han après els serveix per donar resposta a les necessitats que tindran com a professionals de l’educació. Igualment deixem les portes obertes a possibles estudis en altres universitats.

Interfaz web para mostrar los genes según las relaciones que mantienen sus expresiones

La investigació entre les relacions dels nivells d’expressió dels gens aporta molta informació sobre els processos biològics i patològics. Mitjançant la tècnica de les microarrays es possibilita la investigació de les relacions d’expressió de milers de gens a la vegada. La finalitat d’aquest projecte es fent ús de l’aplicatiu web PCOPGene-Net, permetre la identificació dels gens per les relacions d’expressió no lineals que tenen amb la resta de gens i permetre també la identificació de les relacions d’expressió no lineals entre els gens d’una microarray.

Desarrollo de una interfaz gráfica para la creación de sentencias SQL

Aquest treball tracta sobre la creació d'un projecte de programari lliure, portada a terme des del seu inici fins a la seva conversió, en un projecte que conta amb el suport d'una comunitat d'usuaris. Específicament, la finalitat del projecte de programari lliure generat, és la creació d'una aplicació que sigui capaç de guiar de forma gràfica, ràpida i intuïtiva a l'usuari a través del procés de creació de consultes SQL per a la base de dades postgreSQL.

Essential role of the N-terminal region of TFII-I in viability and behavior

Background: GTF2I codes for a general intrinsic transcription factor and calcium channel regulator TFII-I, with high and ubiquitous expression, and a strong candidate for involvement in the morphological and neuro-developmental anomalies of the Williams-Beuren syndrome (WBS). WBS is a genetic disorder due to a recurring deletion of about 1,55-1,83 Mb containing 25-28 genes in chromosome band 7q11.23 including GTF2I. Completed homozygous loss of either the Gtf2i or Gtf2ird1 function in mice provided additional evidence for the involvement of both genes in the craniofacial and cognitive phenotype. Unfortunately nothing is now about the behavioral characterization of heterozygous mice. Methods: By gene targeting we have generated a mutant mice with a deletion of the first 140 amino-acids of TFII-I. mRNA and protein expression analysis were used to document the effect of the study deletion. We performed behavioral characterization of heterozygous mutant mice to document in vivo implications of TFII-I in the cognitive profile of WBS patients. Results: Homozygous and heterozygous mutant mice exhibit craniofacial alterations, most clearly represented in homozygous condition. Behavioral test demonstrate that heterozygous mutant mice exhibit some neurobehavioral alterations and hyperacusis or odynacusis that could be associated with specific features of WBS phenotype. Homozygous mutant mice present highly compromised embryonic viability and fertility. Regarding cellular model, we documented a retarded growth in heterozygous MEFs respect to homozygous or wild-type MEFs. Conclusion: Our data confirm that, although additive effects of haploinsufficiency at several genes may contribute to the full craniofacial or neurocognitive features of WBS, correct expression of GTF2I is one of the main players. In addition, these findings show that the deletion of the fist 140 amino-acids of TFII-I altered it correct function leading to a clear phenotype, at both levels, at the cellular model and at the in vivo model.

Methods and representativeness of European surveys in children and adolescents: the KIDSCREEN study

Background: The objective of the present study was to compare three different sampling and questionnaire administration methods used in the international KIDSCREEN study in terms of participation, response rates, and external validity. Methods: Children and adolescents aged 8–18 years were surveyed in 13 European countries using either telephone sampling and mail administration, random sampling of school listings followed by classroom or mail administration, or multistage random sampling of communities and households with self-administration of the survey materials at home. Cooperation, completion, and response rates were compared across countries and survey methods. Data on non-respondents was collected in 8 countries. The population fraction (PF, respondents in each sex-age, or educational level category, divided by the population in the same category from Eurostat census data) and population fraction ratio (PFR, ratio of PF) and their corresponding 95% confidence intervals were used to analyze differences by country between the KIDSCREEN samples and a reference Eurostat population. Results: Response rates by country ranged from 18.9% to 91.2%. Response rates were highest in the school-based surveys (69.0%–91.2%). Sample proportions by age and gender were similar to the reference Eurostat population in most countries, although boys and adolescents were slightly underrepresented (PFR <1). Parents in lower educational categories were less likely to participate (PFR <1 in 5 countries). Parents in higher educational categories were overrepresented when the school and household sampling strategies were used (PFR = 1.78–2.97). Conclusion: School-based sampling achieved the highest overall response rates but also produced slightly more biased samples than the other methods. The results suggest that the samples were sufficiently representative to provide reference population values for the KIDSCREEN instrument.

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

Background: Aproximately 5–10% of cases of mental retardation in males are due to copy number variations (CNV) on the X chromosome. Novel technologies, such as array comparative genomic hybridization (aCGH), may help to uncover cryptic rearrangements in X-linked mental retardation (XLMR) patients. We have constructed an X-chromosome tiling path array using bacterial artificial chromosomes (BACs) and validated it using samples with cytogenetically defined copy number changes. We have studied 54 patients with idiopathic mental retardation and 20 controls subjects. Results: Known genomic aberrations were reliably detected on the array and eight novel submicroscopic imbalances, likely causative for the mental retardation (MR) phenotype, were detected. Putatively pathogenic rearrangements included three deletions and five duplications (ranging between 82 kb to one Mb), all but two affecting genes previously known to be responsible for XLMR. Additionally, we describe different CNV regions with significant different frequencies in XLMR and control subjects (44% vs. 20%). Conclusion:This tiling path array of the human X chromosome has proven successful for the detection and characterization of known rearrangements and novel CNVs in XLMR patients.

Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility

Background: Germline genetic variation is associated with the differential expression of many human genes. The phenotypic effects of this type of variation may be important when considering susceptibility to common genetic diseases. Three regions at 8q24 have recently been identified to independently confer risk of prostate cancer. Variation at 8q24 has also recently been associated with risk of breast and colorectal cancer. However, none of the risk variants map at or relatively close to known genes, with c-MYC mapping a few hundred kilobases distally. Results: This study identifies cis-regulators of germline c-MYC expression in immortalized lymphocytes of HapMap individuals. Quantitative analysis of c-MYC expression in normal prostate tissues suggests an association between overexpression and variants in Region 1 of prostate cancer risk. Somatic c-MYC overexpression correlates with prostate cancer progression and more aggressive tumor forms, which was also a pathological variable associated with Region 1. Expression profiling analysis and modeling of transcriptional regulatory networks predicts a functional association between MYC and the prostate tumor suppressor KLF6. Analysis of MYC/Myc-driven cell transformation and tumorigenesis substantiates a model in which MYC overexpression promotes transformation by down-regulating KLF6. In this model, a feedback loop through E-cadherin down-regulation causes further transactivation of c-MYC.Conclusion: This study proposes that variation at putative 8q24 cis-regulator(s) of transcription can significantly alter germline c-MYC expression levels and, thus, contribute to prostate cancer susceptibility by down-regulating the prostate tumor suppressor KLF6 gene.

Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder

Background: There is increasing evidence that impairment of mitochondrial energy metabolism plays an important role in the pathophysiology of autism spectrum disorders (ASD; OMIM number: 209850). A significant proportion of ASD cases display biochemical alterations suggestive of mitochondrial dysfunction and several studies have reported that mutations in the mitochondrial DNA (mtDNA) molecule could be involved in the disease phenotype. Methods: We analysed a cohort of 148 patients with idiopathic ASD for a number of mutations proposed in the literature as pathogenic in ASD. We also carried out a case control association study for the most common European haplogroups (hgs) and their diagnostic single nucleotide polymorphisms (SNPs) by comparing cases with 753 healthy and ethnically matched controls.Results: We did not find statistical support for an association between mtDNA mutations or polymorphisms and ASD.Conclusions: Our results are compatible with the idea that mtDNA mutations are not a relevant cause of ASD and the frequent observation of concomitant mitochondrial dysfunction and ASD could be due to nuclear factors influencing mitochondrion functions or to a more complex interplay between the nucleus and the mitochondrion/mtDNA.

Self-reported social class in adolescents: validity and relationship with gradients in self-reported health

Background: Analyzing social differences in the health of adolescents is a challenge. The accuracy of adolescent's report on familial socio-economic position is unknown. The aims of the study were to examine the validity of measuring occupational social class and family level of education reported by adolescents aged 12 to 18, and the relationship between social position and self-reported health.Methods: A sample of 1453 Spanish adolescents 12 to 18 years old from urban and rural areas completed a self-administered questionnaire including the Child Health and Illness Profile-Adolescent Edition (CHIP-AE), and data on parental occupational social class (OSC) and level of education (LE). The responsible person for a sub-sample of teenagers (n = 91) were interviewed by phone. Kappa coefficients were estimated to analyze agreement between adolescents and proxy-respondents, and logistic regression models were adjusted to analyze factors associated with missing answers and disagreements. Effect size (ES) was calculated to analyze the relationship between OSC, LE and the CHIP-AE domain scores.Results: Missing answers were higher for father's (24.2%) and mother's (45.7%) occupational status than for parental education (8.4%, and 8.1% respectively), and belonging to a non-standard family was associated with more incomplete reporting of social position (OR = 4,98; 95%CI = 1,3–18,8) as was agreement between a parent and the adolescent. There were significant social class gradients, most notably for aspects of health related to resilience to threats to illness.ConclusionAdolescents can acceptably self-report on family occupation and level of education. Social class gradients are present in important aspects of health in adolescents.

Array-CGH in patients with a clinical diagnosis of Kabuki syndrome: identification of two cases with terminal 2q37 deletion and no other recurrent rearrangement

Background: Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by specific facial features, mild to moderate mental retardation, postnatal growth delay, skeletal abnormalities, and unusual dermatoglyphic patterns with prominent fingertip pads. A 3.5 Mb duplication at 8p23.1-p22 was once reported as a specific alteration in KS but has not been confirmed in other patients. The molecular basis of KS remains unknown. Methods: We have studied 16 Spanish patients with a clinical diagnosis of KS or KS-like to search for genomic imbalances using genome-wide array technologies. All putative rearrangements were confirmed by FISH, microsatellite markers and/or MLPA assays, which also determined whether the imbalance was de novo or inherited. Results: No duplication at 8p23.1-p22 was observed in our patients. We detected complex rearrangements involving 2q in two patients with Kabuki-like features: 1) a de novo inverted duplication of 11 Mb with a 4.5 Mb terminal deletion, and 2) a de novo 7.2 Mb-terminal deletion in a patient with an additional de novo 0.5 Mb interstitial deletion in 16p. Additional copy number variations (CNV), either inherited or reported in normal controls, were identified and interpreted as polymorphic variants. No specific CNV was significantly increased in the KS group. Conclusion: Our results further confirmed that genomic duplications of 8p23 region are not a common cause of KS and failed to detect other recurrent rearrangement causing this disorder. The detection of two patients with 2q37 deletions suggests that there is a phenotypic overlap between the two conditions, and screening this region in the Kabuki-like patients should be considered.

Medidas cautelares en la Ley Concursal en relación con la calificación del concurso y la responsabilidad concursal: el embargo preventivo de bienes de los administradores o liquidadores de la persona jurídica

S’aborda, des d’una òptica processal, l’estudi de l’article 48.3 de la Llei Concursal relatiu a l’embargament preventiu dels béns dels administradors i liquidadors de la persona jurídica declarada en concurs de creditors. En particular, s’analitzen els problemes derivats de la connexió d’aquest precepte amb l’específic règim de responsabilitat d’administradors previst en l’article 172.3 de la Llei Concursal, i es fa referència a les diferents solucions interpretatives aportades pels òrgans judicials, doncs la de l’article 48.3 LC depèn en gran mesura de la concepció que es tingui respecte a la naturalesa i pressupostos de la responsabilitat concursal. Transcorreguts cinc anys des del començament de la vigència de la Llei 22/2003, de 9 de juliol, Concursal, i de la seva coetània, la Llei Orgànica 8/2003, per la Reforma Concursal i per la que es modifica la Llei Orgànica del Poder Judicial sembla adequat referir quin és l’estat de la nova legislació, reflectir com s’ha posat en pràctica, quins problemes ha suscitat i quines interpretacions han efectuat els diferents operadors jurídics. Centrem aquest anàlisi en una matèria concreta: dins dels efectes que produeix la declaració de concurs sobre el deutor persona jurídica, la nova font de responsabilitat que instaura sobre els seus administradors i liquidadors, i les mesures que propicia per assegurar la seva efectivitat, qualificades per la seva indubtable transcendència com una de les novetats més importants introduïdes en el nostre Dret per la Llei Concursal. S’estudia l’embargament de béns dels administradors societaris per assegurar la cobertura del dèficit resultant de la liquidació de la massa activa.

Del teatre líric a la cançó popular : construcció social a partir de la música en València (1900-1959)

El text que es mostra a continuació resumeix el treball realitzat en la primera fase de recerca del projecte titulat provisionalment "Del teatre líric a la cançó popular: construcció social a partir de la música en València (1900-1959)". Aquest treball ha tingut una durada de set mesos entre febrer i agost de 2009. El projecte pretén dibuixar les línies que uneixen teatre líric i cançó popular fent especial èmfasi en els mecanismes de creació d'identitat de gènere, que va envoltar tot aquest procés. Per aquests motius, la recerca está construïda sobre dos eixos: entrevistes amb les fonts orals i buidatge dels principals fons bibliogrífics per a l'estudi de les fonts primàries i secundàries del primer període analitzat (1931-1959), focalitzat en els pobles que envolten la ciutat de València. Les conclusions apunten cap a una clara vinculació entre teatre líric i cançó popular, així com la utilització dels esdeveniments musicals amb finalitats conformadores de rols socials per part de les institucions sociopolítiques. Les diferències entre fonts primàries i fonts orals assenyalen una naturalització de la desigualtat de gènere a través de la música que han arribat fins als nostres dies, per la qual cosa és necessari l'estudi i anàlisi de la memòria musical.

La busca de Jorge Luis Borges: metáfora, metafísica y misticismo

El presente trabajo se propone analizar el influjo de la cultura islámica y, muy especialmente, de su vertiente mística, en tres relatos de la ‘serie árabe’ de Jorge Luis Borges: El Zahir, La busca de Averroes y El acercamiento a Almotásim, analizados en torno a los conceptos básicos de metáfora, metafísica y misticismo, respectivamente. El objeto de este estudio es clarificar las fuentes empleadas en dichos textos para desentrañar las actitudes ideológicas de raigambre árabe que comprenden y la particular interpretación que el autor hace de éstas, dando así una idea más completa y global de la poética borgesiana

L'ús de la metodologia CUSUM pel control de qualitat i de l'efecte d'aprenentatge en els procediments endovasculars

El control de qualitat terapèutica i el monitoratge de l’efecte d’aprenentatge constitueixen dues responsabilitats ineludibles durant l’adquisició i manteniment de noves modalitats terapèutiques. L’objectiu d’aquest estudi va ser avaluar qualitat terapèutica i efecte d’aprenentatge a partir de corbes CUSUM, associats a la introducció i desenvolupament de procediments endovasculars incloent 553 pacients consecutius amb arteriopatia obliterant aorto-ilíaca, fémoro-poplítia o renal, tractats per cirurgians vasculars a l’Hospital del Mar entre 2003-2009, registrant-ne iatrogènia, no consecució tècnica i fracàs tècnic durant el primer mes i realitzant corbes CUSUM per a cada territori, que han acabat constituint un excel•lent sistema d’avaluació de qualitat terapèutica.

Three-dimensional morphological analysis of intracranial aneurysms: a fully automated method for aneurysm sac isolation and quantification

Morphological descriptors are practical and essential biomarkers for diagnosis andtreatment selection for intracranial aneurysm management according to the current guidelinesin use. Nevertheless, relatively little work has been dedicated to improve the three-dimensionalquanti cation of aneurysmal morphology, automate the analysis, and hence reduce the inherentintra- and inter-observer variability of manual analysis. In this paper we propose a methodologyfor the automated isolation and morphological quanti cation of saccular intracranial aneurysmsbased on a 3D representation of the vascular anatomy.