Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca.

BACKGROUND: Variant transthyretin amyloidosis (A-ATTRv) is an autosomal dominant disease caused by a range of TTR gene variants which entail great phenotypical heterogeneity and penetrance. In Majorca, the A-ATTRv caused by the V30M gene variant (A-ATTRV30M) is the most common. Since asymptomatic carriers are at risk of developing the disease, estimating age of onset is vital for proper management and follow-up. Thus, the aim of this study was to estimate age-related penetrance in ATTRV30M variant carriers from Majorca. METHODS: The disease risk among carriers from ATTRV30M families from Majorca was estimated by Non-parametric survival estimation. Factors potentially involved in the disease expression, namely gender and parent of origin were also analysed. RESULTS: A total of 48 heterozygous ATTRV30M families (147 affected patients and 123 were asymptomatic carriers) were included in the analysis. Penetrance progressively increased from 6% at 30 years to 75% at 90 years of age. In contrast to other European populations, we observe a similar risk for both males and females, and no difference of risk according to the parent of origin. CONCLUSIONS: In this first study assessing the age-related penetrance of ATTRV30M variant in Majorcan families, no effect of gender or parent of origin was observed. These findings will be helpful for improving management and follow-up of TTR variant carrier individuals.

Relative Age Effect and Biological Maturation on Inhibitory Control of Motor Response in Basketball / Efecto de la edad relativa y la maduración biológica sobre el control inhibitorio de la respuesta motora en el baloncesto

In the context of sports, relative age effect (RAE) generates transitional differences on maturational development non-linear at chronological age. This leads to a lack of selection opportunities in sport teams during pubertal stage. Biological maturation (BM) is the main modulator of these drastic changes in maturation, which affect sport performance. 34 young male basketball players [Mage= 10,94 (±1,51) years] are evaluated on inhibitory control of motor response through the computerized Go/no-go task. The study uses two BM indices: “maturity offset” and “percentage of adult height”. Results found significant differences on cognitive performance between two different chronological age groups (under10 / top10 years old.). Top10 players show a lower response time (RT) and accuracy adjusted response time than under10. However, the study does not find RAE (birth semester) on cognition. Percentage of adult height predicts both RT and accuracy adjusted RT performance in the entire sample, while maturity offset also did it, but only in the greater chronological age group (top10). Sports field research should consider BM control to explain RAE, and the influence on executive functions, that are crucial for interactive sport performance.(AU)

Inclusion of dietary Ulva ohnoi 5% modulates Solea senegalensis immune response during Photobacterium damselae subsp. piscicida infection.

Macroalgae represent valuable sources of functional ingredients for fish diets, and the influence of supplemented aquafeeds on growth performance has been studied for some fish and seaweed species. In the present work, the potential immunomodulation exerted by U. ohnoi (5%) as dietary ingredient was investigated in Senegalese sole. After feeding with the experimental diets for 90 d, fish immune response before and after challenge with Photobacterium damselae subsp. piscicida (Phdp) was assessed. In absence of infection, systemic immune response was not modified by 5% U. ohnoi dietary inclusion for 90 d. Thus, no differences in liver and head kidney immune gene transcription or serum lysozyme, peroxidase, antiprotease and complement activities were observed based on the diet received by Senegalese sole specimens. Regarding mucosal immune parameters, no changes in gene transcription were detected in the skin and gills, whilst only tnf, cd4 and cd8 were significantly up-regulated in the intestine of fish fed with U. ohnoi, compared to the values obtained with control diet. On the contrary, when S. senegalensis specimens were challenged with Phdp, modulation of the immune response consisting in increased transcription of genes encoding complement (c1q4, c3, c9), lysozyme g (lysg), tumor necrosis factor alpha (tnfα) as well as those involved in the antioxidant response (gpx, sodmn) and iron metabolism (ferrm, hamp-1) was observed in the liver of fish fed with U. ohnoi. In parallel, decreased inflammatory cytokine and complement encoding gene transcription was displayed by the spleen of fish receiving the algal diet. Though mortality rates due to Phdp challenge were not affected by the diet received, lower pathogen loads were detected in the liver of soles receiving U. ohnoi diet. Further research to investigate the effects of higher inclusion levels of this seaweed in fish diets, feeding during short periods as wells as to assess the response against other pathogens needs to be carried out.

Modulation of Intestinal Microbiota in Solea senegalensis Fed Low Dietary Level of Ulva ohnoi.

Gastrointestinal (GI) microbiota has a relevant role in animal nutrition, modulation of the immune system and protection against pathogen invasion. Interest in algae as source of nutrients and functional ingredients for aquafeeds is increasing in order to substitute conventional feedstuffs by more sustainable resources. The diet is an important factor in the modulation of the microbiota composition, and functional ingredients have been proposed to shape the microbiota and contribute benefits to the host. However, fish microbiome research is still limited compared to other hosts. Solea senegalensis is a flat fish with high potential for aquaculture in South Europe. In this study, a characterization of the microbiome of S. senegalensis (GI) tract and the effects of feeding Ulva ohnoi supplemented diet has been carried out. Differences in the composition of the microbiota of anterior and posterior sections of S. senegalensis GI tract have been observed, Pseudomonas being more abundant in the anterior sections and Mycoplasmataceae the dominant taxa in the posterior GI tract sections. In addition, modulation of the GI microbiota of juvenile Senegalese sole fed for 45 days a diet containing low percentage of U. ohnoi has been observed in the present study. Microbiota of the anterior regions of the intestinal tract was mainly modulated, with higher abundance of Vibrio spp. in the GI tract of fish fed dietary U. ohnoi.

Desarrollo de lenguaje en niños con implante coclear en centro terciario de salud: serie clínica / Language development in children with cochlear implant at a tertiary health care center: clinical series

Resumen Introducción: Desde la década de los 90, los implantes cocleares han progresado desde aplicaciones experimentales a un uso clínico estandarizado en niños con pérdida auditiva severa y profunda. Las investigaciones han producido cambios en la tecnología de los implantes y ha dado lugar a la expansión de los candidatos a implante para incluir a los niños menores de 2 años de edad. El objetivo principal de la implantación coclear pediátrica es facilitar el desarrollo del lenguaje hablado. A pesar de los avances en la tecnología de implantes y los cambios en el manejo de la pérdida auditiva, los resultados de lenguaje en niños son todavía muy variables, participando de este proceso tanto el tratamiento oportuno, la red familiar y nivel socioeconómico entre algunos de ellos. Objetivo: Describir resultados de niños menores 6 años sometidos a cirugía de implante coclear en un centro terciario de salud. Material y método: Estudio longitudinal de cohorte retrospectivo, análisis a 99 pacientes implantados en centro terciario de salud desde inicio programa en 1994 a 2015. Resultados: 99 pacientes, 57% hombres 43% mujeres, edad promedio implantación 16,3 meses. 54,8% casos origen congénito no especificado o prematurez. En 74,4% se objetivó presencia de lenguaje auditivo verbal. El nivel socioeconómico (NSE) mostró asociación con no desarrollo de lenguaje (p =0,009) evidenciando que pacientes de bajo NSE 20% no desarrolla lenguaje. La variable discapacidad asociada (p <0,001) y la variable NSE (p =0,036) se asociaron de manera independiente a lenguaje de señas o no desarrollo de lenguaje oral. Conclusión: Los implantes cocleares ofrecen una opción en la rehabilitación auditiva en hipoacusia sensorio neural profunda, para candidatos de todo el espectro de edad, sin embargo los resultados dependen en gran medida del entorno en el que se utilizan los implantes cocleares.

ABSTRACT Introduction: Since the 90s, cochlear implantation has progressed from experimental to standard clinical practice for children with severe and profound hearing loss. Research has produced changes in implant technology and has led to the expansion of implant candidacy to include children younger than 2 years of age. The primary goal of pediatric cochlear implantation is to facilitate spoken language development. Despite the advances in implant technology and the changes to the management of hearing loss, language outcomes for children are still highly variable, participating in this process both timely treatment, the family network and socio economic level among others. Aim: describe outcomes of patients younger than 6 years undergoing cochlear implant surgery in a tertiary care center. Material and method: retrospective longitudinal cohort study, 99 patients implanted in a tertiary health center since the program's inception in 1994 to 2015 was analyzed. Results: 99 patients, 57 % men 43 % women, average age of implantation 16.3 months. 54.8 % of cases were congenital or prematurity. In 74.4 % they had auditory verbal language. Socioeconomic status (SES) showed association with the lack of language development (p =0.009) demonstrating that low SES patients (20%) do not develop language. The disability associated variable (p <0.001) and the SES variable (p =0.036) were independently associated with sign language or no oral language development. Conclusions: Cochlear implants offer an option for hearing rehabilitation in profound hearing loss, for candidates of all ages, however the results depend largely on the environment in which cochlear implants are used.

Resultados del programa de implantes cocleares de Clínica Las Condes a 20 años de su inicio: serie clínica 1994-2015 / Cochlear implant program results in Clinica Las Condes 20 years since the beginning: clinical series 1994-2015

RESUMEN Introducción: La hipoacusia sensorioneural es la tercera causa de discapacidad en Chile, con incidencia en recién nacidos de 1 a 3 casos cada 1.000 recién nacidos vivos, y prevalencia en adultos de hasta 70%, siendo muchos casos susceptibles de ser tratados mediante implante coclear. Objetivo: Describir resultados de los pacientes sometidos a cirugía de implante coclear en Clínica Las Condes (CLC). Material y método: Estudio longitudinal de cohorte retrospectiva, se analizaron a 237 pacientes implantados en Clínica Las Condes desde 1994 al año 2015. Resultados: Se analizan 237 pacientes, 106 mujeres (44,7%) y 131 hombres (55,3%). El 65,5% de los pacientes se implantaron entre los 2-6 años de vida. Las etiologías más frecuentes fueron hipoacusia congénita no sindrómica (45,9%), genética tardía (11,8%) y posmeningitis (11,4%). Se encontró asociación significativa entre promedio tonal de la palabra (PTP) y presencia de malformación coclear (p =0,008). Sólo 9,9% de los pacientes presentaron otra discapacidad asociada a la hipoacusia. La tasa de reimplante fue 16,3% y sólo la variable malformación coclear se asoció a ella (p =0,016). Conclusión: El implante coclear es una herramienta beneficiosa en pacientes hipoacúsicos que no se benefician de otros dispositivos auditivos ofreciendo la posibilidad de reinsertarlos social y laboralmente con bajo riesgo quirúrgico y alta tasa de éxito.

ABSTRACT Introduction: Sensorineural hearing loss is the third leading cause of disability in Chile, with incidence in infants 1 to 3 cases per 1,000 newborn and prevalence in adult up to 70%, with many cases that can be treated with cochlear implant. Aim: to describe outcomes of our series of patients undergoing cochlear implant surgery at Clinica Las Condes (CLC). Material and method: Retrospective longitudinal cohort study, 237 patients implanted in our center since 1994 to 2015 were analyzed. Results: 237 patients, 106 women (44.7%) and 131 men (55.3%) received a cochlear implant during this period. 65.5% of patients were implanted between 2-6 years of age. The most common etiologies were; non-syndromic congenital deafness (45.9%), late genetic onset (11.8%) and meningitis (11.4%). A significant association between the average pure tone average and presence of cochlear malformation (p =0.008) was demonstrated. Only 9.9% of patients had other disabilities associated with hearing loss. Re-implantation rate was 16.3% and only the variable cochlear malformation was associated to it (p =0.016) Conclusions: The cochlear implant provides clear benefits to patients with hearing impairment who do not benefit from other hearing devices offering the possibility of social and labor reintegrating, with low surgical risk and high success rate.

Feed pellets containing chitosan nanoparticles as plasmid DNA oral delivery system for fish: In vivo assessment in gilthead sea bream (Sparus aurata) juveniles.

The aim of this study was the assessment of preloaded feed pellets as a delivery system for plasmid DNA (pDNA), with the purpose of evaluating the potential administration of DNA vaccines orally in aquacultured fish. Pellets were made up by usual feed ingredients, which were mixed with chitosan nanoparticles entrapping a model plasmid (pCMVß) expressible in eukaryotic cells before being elaborated. The plasmid is characterized by the insertion of the reporter gene lacZ, encoding for the bacterial enzyme ß-galactosidase (ß-gal). The possible in vivo expression of the exogenous gene was measured in different fish tissues of gilthead sea bream (Sparus aurata) juveniles by two different procedures. On the one hand, the activity of the enzyme ß-gal was detected and quantified in muscle, liver and intestine; on the other, specific IgM against ß-gal antigen was titrated in blood samples. Intramuscular (i.m.) injection of equal amounts of plasmid was also carried out for the purpose of comparison with oral administration. The expression of the reporter gene was detected in fish tissues following both oral and i. m. administration of pDNA up to 60 days. However, organ distribution of the gene expression was more evident after oral (ß-gal activity measured in gut, liver and muscle) than after parenteral administration (restricted to adjacent muscle tissues). In agreement, specific IgM titration indicated that humoral immune response was more intense and sustained throughout the experimental period after oral than after i. m. delivery of equal amounts of pDNA. These results suggest that feed pellets containing chitosan nanoparticles might enable efficient oral delivery of pDNA, a fact that might imply valuable applications in terms of on-farm mass immunization purposes, especially with regard to DNA-based vaccines and small size fish, in which i. m. administration remains unfeasible.

Growth performance, body composition, and digestive functionality of Senegalese sole (Solea senegalensis Kaup, 1858) juveniles fed diets including microalgae freeze-dried biomass.

Senegalese sole is one of the most promising fish species cultivated in the Southern European countries. This study was aimed at assessing the effects of microalgae biomass added to diets for Senegalese sole juveniles on fish growing and condition status. Three isoproteic (52%) and isolipidic (10%) were formulated containing 15% Tisochrysis lutea (TISO), Nannochloropsis gaditana (NAN), or Scenedesmus almeriensis (SCE) biomass, respectively. An experimental microalgae-free diet (CT) and a commercial diet (COM) were used as controls. Fish were fed at 3% of their body weight for 85 days. Final body weight of fish fed microalgae-supplemented diets did not differ from group fed CT diet. Fish-fed CT, TISO, NAN, and SCE showed higher growth performance and nutrient utilization figures than specimen-fed COM diet. The highest carcass lipid content was found in COM group (141 g kg-1), and no differences were observed in body protein content. Ash was significantly higher in TISO, NAN, and SCE groups compared to fish-fed CT. Muscle EPA and DHA contents were not modified owing to the different dietary treatments. The n3/n6 and EPA/DHA ratios in muscle were similar in all the experimental groups. The quantification of digestive proteolytic activities did not differ among experimental groups, although differences in the protease pattern in digestive extracts by zymography were revealed in those fish fed on COM diet. Both α-amylase activity in the intestinal lumen and leucine aminopeptidase in the intestinal tissue were significantly lower in COM fish. Specimens fed on SCE diet showed a higher leucine aminopeptidase activity associated to the intestinal tissue compared to NAN-fed fish (0.40 and 0.25 U g tissue-1, respectively). The ultrastructural study revealed that the dietary inclusion of algal biomass, especially T. lutea and N. gaditana, had a positive impact on the absorptive capacity of the intestinal mucosa. The highest values for the parameters microvilli length and microvilli absorption surface were observed in fish fed on NAN diet (1.99 µm and 45.93 µm2, respectively). Even though further studies aimed at optimizing commercial formulas for Senegalese sole are required prior to any large-scale practical utilization, the results obtained clearly suggest the potential of microalgae as dietary ingredients for this fish species.

Coarse-grained simulations of the salt dependence of the radius of gyration of polyelectrolytes as models for biomolecules in aqueous solution.

The salt dependent radius of gyration of a polyelectrolyte in aqueous solution is calculated in an environment where the polyelectrolyte is surrounded by a permeable membrane that exchanges only solvent particles with the bulk. We obtain additionally the scaling exponent of the gyration radius as a function of the polymerization degree, and find that the polyelectrolyte retains a stretched conformation during the condensation and re-expansion process, indicating that these effects are of an electrostatic nature. The solvent quality is also shown to affect the polyelectrolyte conformation, especially for the poor solvent case. These results are obtained using a hybridized Monte Carlo technique with the coarse-grained, dissipative particle dynamics method with fluctuating number of solvent particles. The full range of the electrostatic interactions is included in the simulations, using the Ewald sum method, and the counterions and solvent molecules are included explicitly. In the complex systems mentioned above, the electrostatic interactions and the solvent quality play a key role in understanding phenomena that do not occur in uncharged systems. Our results are compared and validated with the behavior of some biomolecules under similar environments.

Digestive enzyme activities during early ontogeny in Common snook (Centropomus undecimalis).

Common snook (Centropomus undecimalis) is one of the most important marine species under commercial exploitation in the Gulf of Mexico; for this reason, interest in developing its culture is a priority. However, larviculture remains as the main bottleneck for massive production. In this sense, our objective was to determine the changes of digestive enzymes activities using biochemical and electrophoretic techniques during 36 days of Common snook larviculture fed with live preys (microalgae, rotifers, and Artemia). During larviculture, all digestive enzymatic activities were detected with low values since yolk absorption, 2 days after hatching (dah) onwards. However, the maximum values for alkaline protease (6,500 U mg protein(-1)), trypsin (0.053 mU × 10(-3) mg protein(-1)), and Leucine aminopeptidase (1.4 × 10(-3) mU mg protein(-1)) were detected at 12 dah; for chymotrypsin at 25 dah (3.8 × 10(-3) mU mg protein(-1)), for carboxypeptidase A (280 mU mg protein(-1)) and lipase at 36 dah (480 U mg protein(-1)), for α-amylase at 7 dah (1.5 U mg protein(-1)), for acid phosphatases at 34 dah (5.5 U mg protein(-1)), and finally for alkaline phosphatase at 25 dah (70 U mg protein(-1)). The alkaline protease zymogram showed two active bands, the first (26.3 kDa) at 25 dah onwards, and the second (51.6 kDa) at 36 dah. The acid protease zymogram showed two bands (RF = 0.32 and 0.51, respectively) at 34 dah. The digestive enzymatic ontogeny of C. undecimalis is very similar to other strictly marine carnivorous fish, and we suggest that weaning process should be started at 34 dah.

Movimientos anormales identificados en pacientes con tuberculomas intracraneales / Movement disorders identified in patients with intracranial tuberculomas

Introducción: los movimientos involuntarios anormales (MIA) se han asociado con lesiones en estructuras profundas del cerebro. El objetivo del estudio fue describir la frecuencia y características de MIA en pacientes con tuberculomas intracraneales. Métodos: se incluyeron los pacientes ingresados consecutivamente en el Servicio de Neurología del Hospital Eugenio Espejo (Quito-Ecuador) entre 1989 y 2004 con diagnóstico de tuberculomas intracraneales. Todos los pacientes fueron examinados clínicamente, se realizaron exámenes de laboratorio y estudios de imagen. El período de seguimiento se prolongó hasta un año después del tratamiento antituberculoso. Dentro de la cohorte se diferenció dos grupos: casos incidentes con MIA y controles. Se compararon las características clínicas, número y localización de los tuberculomas. Resultados: se estudiaron 49 pacientes (edad media 31,7±20,5 años; sexo masculino 53,1%). Hubo 16 casos incidentes (32,6%; IC 95%=19,9% - 47,5%) de MIA: corea (n=7; 43,8%), temblor (n=5; 31,3%), distonía (n=3; 18,8%) y mioclonías (n=1; 6,3%). La mayoría de casos (87,6%) se desarrollaron tempranamente (10,4±5,2 días de hospitalización). Al ingreso los pacientes con MIA mostraron mayor severidad de la enfermedad que los controles (68,7 vs. 30,3%; p=0,01), tuvieron mayor déficit motor (75,% vs. 39,4%; p=0,01) y sensitivo (43,8 vs. 9.1%; p=0,01). En los casos fueron más frecuentes los tuberculomas múltiples (68,7 vs. 364%), la localización supratentorial profunda (31,3 vs. 21,2%) y las secuelas motoras (25,0 vs. 12,1%). Conclusiones: los resultados sugieren una relación causal entre tuberculomas y MIA. La localización profunda y la presencia de tuberculomas múltiples incrementarían el riesgo para desarrollar MIA (AU)

Introduction: Movement disorders have been associated with deep brain lesions. This study was performed to describe the frequency and characteristics of movement disorders in patients with intracranial tuberculomas. Methods: patients admitted consecutively between 1989 and 2004 to the Neurology Service of Eugenio Espejo Hospital (Quito, Ecuador), with a diagnosis of intracranial tuberculomas. All patients were examined clinically, and laboratory tests and imaging studies performed. Follow-up continued up to one year after the tuberculosis treatment was completed. A nested case-control analysis was performed to compare clinical characteristics, number and location of tuberculomas, between cases with movement disorders and controls. Results: forty-nine patients with tuberculomas (31.7±20.5 years; males 53.1%) were studied. We found 16 cases (32.6%; 95%CI=19.9% - 47.5%) of movement disorders: chorea (n=7; 43.8%), tremor (n=5; 31.3%), dystonia (n=3; 18.8%) and myoclonus (n=1; 6.3%). Most cases (87.6%) developed early (10.4±5.2 days of hospitalization). On admission, patients with movement disorders showed higher severity of the illness than controls (68.7 vs. 30.3%; p=.01), along with greater motor impairment (75.0 vs. 39.4%; p=.01) and sensitivity impairment (43.8 vs. 9.1%; p=.01). The cases showed higher frequency of multiple tuberculomas (68.7 vs. 36.4%), with deep brain deep (31.3 vs. 21.2%) and more severe motor impairment (25.0 vs. 12.1%). Conclusions: our results suggest a causal relationship between tuberculomas and movement disorders. Deep location and multiple tuberculomas may increase the risk of develop movement disorders (AU)

Movement disorders identified in patients with intracranial tuberculomas.

INTRODUCTION: movement disorders have been associated with deep brain lesions. This study was performed to describe the frequency and characteristics of movement disorders in patients with intracranial tuberculomas. METHODS: patients admitted consecutively between 1989 and 2004 to the Neurology Service of Eugenio Espejo Hospital (Quito, Ecuador), with a diagnosis of intracranial tuberculomas. All patients were examined clinically, and laboratory tests and imaging studies performed. Follow-up continued up to one year after the tuberculosis treatment was completed. A nested case-control analysis was performed to compare clinical characteristics, number and location of tuberculomas, between cases with movement disorders and controls. RESULTS: forty-nine patients with tuberculomas (31.7±20.5 years; males 53.1%) were studied. We found 16 cases (32.6%; 95%CI=19.9% - 47.5%) of movement disorders: chorea (n=7; 43.8%), tremor (n=5; 31.3%), dystonia (n=3; 18.8%) and myoclonus (n=1; 6.3%). Most cases (87.6%) developed early (10.4±5.2 days of hospitalization). On admission, patients with movement disorders showed higher severity of the illness than controls (68.7 vs. 30.3%; p=.01), along with greater motor impairment (75.0 vs. 39.4%; p=.01) and sensitivity impairment (43.8 vs. 9.1%; p=.01). The cases showed higher frequency of multiple tuberculomas (68.7 vs. 36.4%), with deep brain deep (31.3 vs. 21.2%) and more severe motor impairment (25.0 vs. 12.1%). CONCLUSIONS: our results suggest a causal relationship between tuberculomas and movement disorders. Deep location and multiple tuberculomas may increase the risk of develop movement disorders.

Shape at the cross-roads: homoplasy and history in the evolution of the carnivoran skull towards herbivory.

Patterns of skull shape in Carnivora provide examples of parallel and convergent evolution for similar ecomorphological adaptations. However, although most researchers report on skull homoplasies among hypercarnivorous taxa, evolutionary trends towards herbivory remain largely unexplored. In this study, we analyse the skull of the living herbivorous carnivorans to evaluate the importance of natural selection and phylogenetic legacy in shaping the skulls of these peculiar species. We quantitatively estimated shape variability using geometric morphometrics. A principal components analysis of skull shape incorporating all families of arctoid carnivorans recognized several common adaptations towards herbivory. Ancestral state reconstructions of skull shape and the reconstructed phylogenetic history of morphospace occupation more explicitly reveal the true patterns of homoplasy among the herbivorous carnivorans. Our results indicate that both historical constraints and adaptation have interplayed in the evolution towards herbivory of the carnivoran skull, which has resulted in repeated patterns of biomechanical homoplasy.

Características de las dimensiones y subdimensiones de la personalidad en jóvenes jugadores de baloncesto / No disponible

Los trabajos que han destacado y predominado en las dos últimas décadas, en relación con el estudio de la personalidad, tanto en el ámbito deportivo (Hoyt, Rhodes, Hausenblas, Giacobbi, 2009; Ruiz, 2005) como extradeportivo: en psicología de las organizaciones, en psicología de la educación y en psicología clínica, confluyen en el modelo de los “Cinco Grandes Factores de la Personalidad” (MPBFQ). Para medirlos se han aplicado, principalmente, el modelo NEO- Personality Inventory (NEO-PI) y el cuestionario de personalidad Big Five (BFQ) de Caprara, Barbaranelli, Borgogni y Perugini (1993). El objetivo del presente trabajo es conocer los rasgos de la personalidad de los jóvenes jugadores de baloncesto a través del cuestionario de personalidad BFQ (Bermúdez, 1995) (AU)

La participación del jugador de minibasket en situaciones reducidas de juego en competición / No disponible

Los trabajos que han destacado y predominado en las dos últimas décadas, en relación con el estudio de la personalidad, tanto en el ámbito deportivo (Hoyt, Rhodes, Hausenblas, Giacobbi, 2009; Ruiz, 2005) como extradeportivo: en psicología de las organizaciones, en psicología de la educación y en psicología clínica, confluyen en el modelo de los “Cinco Grandes Factores de la Personalidad” (MPBFQ). Para medirlos se han aplicado, principalmente, el modelo NEO- Personality Inventory (NEO-PI) y el cuestionario de personalidad Big Five (BFQ) de Caprara, Barbaranelli, Borgogni y Perugini (1993). El objetivo del presente trabajo es conocer los rasgos de la personalidad de los jóvenes jugadores de baloncesto a través del cuestionario de personalidad BFQ (Bermúdez, 1995) (AU)

Influencia de un programa de entrenamiento sobre la mejora de la toma de decisiones en jugadores de baloncesto / No disponible

En los deportes de equipo el conocimiento que necesita el juegador está relacionado con la lógica de juego (Grehaigne, Godbout y Bouthier, 1999). Esta lógica dará lugar a los principios de juego, siendo uno de ellos conservar el balón (Bayer, 1992). Para su cumplimiento es necesario facilitar el pase al jugador con balón (Cárdenas y Alarcón 2009). De los diferentes modelos de enseñanza en educación física que buscan la mejora de la toma de decisiones del jugador es el modelo constructivista el que mejor se adapta a las necesidades de aprendizaje que tiene el jugador de baloncesto, ya que utiliza una intervención reflexiva que ayuda al jugador a interiorizar los conocimientos relacionados con la lógica del juego (Grehaigne, Wallian y Godbout, 2005). El objetivo de este estudio fue analizar la influencia de un programa de entrenamiento basado en la presentación de los objetivos y principios de juego mediante una intervención reflexiva, sobre la toma de decisiones relacionada con la capacidad de facilitar el pase al jugador con balón durante el juego real de un equipo de baloncesto (AU)

Relación entre la ansiedad y la eficacia de un equipo de baloncesto durante la competición / No disponible

El baloncesto, como cualquier deporte, es una actividad multidimensional donde se relacionan las emociones, cogniciones y conductas del deportista. Conocer los motivos de su excelencia ha llevado a los investigadores a analizar el efecto de emociones sobre el rendimiento deportivo (Arent y Landers, 2003). Según Spielberger (1966) los deportistas con un alto grado de ansiedad rasgo tendrán, a su vez, un mayor nivel de ansiedad estado y en consecuencia, mayor riesgo de rendir por debajo de su potencial en la competición.El objetivo de este estudio fue analizar si existía alguna relación entre la ansiedad un grupo de jugadores y su rendimiento durante la competición, además de evaluar si los valores de ansiedad de los jugadores variaban según el nivel del equipo rival (AU)

Más allá de la neurosis. Bases teóricas para la comprensión de los pacientes límite / Beyond neurosis; theoretic basis for the understanding of patientes with severe pathology

He tratado de mostrar los dos momentos clave del desarrollo de la teoría psicoanalítica: el modelo de la neurosis y de la interpretación de los sueños y la introducción del narcisismo y la teoría estructural de Freud. El psicoanálisis nació como psicoterapia de la histeria y como extensión, de las demás neurosis, fobia y neurosis obsesiva. En este terreno se muestra muy eficaz la fórmula de mediante la interpretación clásica. Durante mucho tiempo se intentó tratar las patologías más graves (bordeline y psicóticos) con esta misma técnica. De hecho, el mismo Freud en su caso clásico del , se empeña en esta dirección con unos resultados terapéuticos bastante cuestionados. La introducción de la teoría del narcisismo y la segunda tópica (estructural) permiten entender las patologías graves desde otra perspectiva. No sólo hay que tener en cuenta el contenido representacional en claves de inconsciente y preconsciente-consciente, hay que ver también el daño estructural y el conflicto con la realidad. En estos casos graves lo inconsciente (no percibido conscientemente) no es la pulsión sino la realidad. Los psicóticos crean una neo-realidad mediante el delirio y la alucinación, los bordeline perciben la realidad pero no son realistas. Son conscientes de sus pulsiones pero no las controlan. Consecuentemente el trabajo analítico tiene que discurrir por otros parámetros (AU)

I have tried to show the two man highlights of the evolution of the psychoanalytic theory: the model of the neurosis and of the interpretation of dreams, as well as the introduction of narcissism and the structural theory of Freud. Psychoanalysis was born as a psychotherapy for hysteria and by extension, for the treatment of the other neurosis, phobia and obsessive neurosis. In this ground the formula is quite severe pathologies (borderline and psychotic) were treated by this method of classic interpretation. As a matter of fact, Freud, in his classic case follows this method with dubious results. The introduction of the theory of narcissism as well as the second topic, allows for an understanding of the severe pathologies form another perspective. Here, we must study the structural damage as well as the conflict with reality and not only the representational content in terms of unconscious, preconscious-conscious. In these severe cases the unconscious (which is not perceived consciously), it is not the instinctual objective, it is reality. Psychotics create a new reality by means of hallucinations and delusion. The borderline patient perceives reality but he is not realistic. They are conscious of their impulses but do not control them. Because of this, the analytic work has to function within other parameters (AU)

PEL: an unbiased method for estimating age-dependent genetic disease risk from pedigree data unselected for family history.

Providing valid risk estimates of a genetic disease with variable age of onset is a major challenge for prevention strategies. When data are obtained from pedigrees ascertained through affected individuals, an adjustment for ascertainment bias is necessary. This article focuses on ascertainment through at least one affected and presents an estimation method based on maximum likelihood, called the Proband's phenotype exclusion likelihood or PEL for estimating age-dependent penetrance using disease status and genotypic information of family members in pedigrees unselected for family history. We studied the properties of the PEL and compared with another method, the prospective likelihood, in terms of bias and efficiency in risk estimate. For that purpose, family samples were simulated under various disease risk models and under various ascertainment patterns. We showed that, whatever the genetic model and the ascertainment scheme, the PEL provided unbiased estimates, whereas the prospective likelihood exhibited some bias in a number of situations. As an illustration, we estimated the disease risk for transthyretin amyloid neuropathy from a French sample and a Portuguese sample and for BRCA1/2 associated breast cancer from a sample ascertained on early-onset breast cancer cases.

A nonparametric method for penetrance function estimation.

In diseases caused by a deleterious gene mutation, knowledge of age-specific cumulative risks is necessary for medical management of mutation carriers. When pedigrees are ascertained through at least one affected individual, ascertainment bias can be corrected by using a parametric method such as the Proband's phenotype Exclusion Likelihood, or PEL, that uses a survival analysis approach based on the Weibull model. This paper proposes a nonparametric method for penetrance function estimation that corrects for ascertainment on at least one affected: the Index Discarding EuclideAn Likelihood or IDEAL. IDEAL is compared with PEL, using family samples simulated from a Weibull distribution and under alternative models. We show that, under Weibull assumption and asymptotic conditions, IDEAL and PEL both provide unbiased risk estimates. However, when the true risk function deviates from a Weibull distribution, we show that the PEL might provide biased estimates while IDEAL remains unbiased.