Caracterització estructural i funcional del gen de la miogenia en l’orada (Sparus aurata )

Report for the scientific sojourn at the University of Maryland Biotechnology Institute from February to August 2007. Myogenesis of skeletal muscles in vertebrates is controlled by extracellular signalling molecules together with intracellular transcription factors. Among the transcriptional factors, the members of the myogenic regulatory family play important roles regulating skeletal muscle development and growth. To characterize the gene structure and expression of fish myogenin, we have isolated the myogenin genomic gene and cDNA from gilthead seabream (Sparus aurata) and analyzed the genomic structure, pattern of expression and the regulation of musclespecific expression. Sequence analysis revealed that the seabream myogenin shares a similar gene structure with other fish myogenins, with three exons, two introns and the highly conserved bHLH domain. Expression studies demonstrated that myogenin is expressed in both slow and fast muscles as well as in muscle cells in primary culture. In situ hybridization showed that myogenin was specifically expressed in developing somites of seabream embryos. Promoter activity analysis demonstrated that the myogenin promoter could drive green fluorescence protein expression in muscle cells of zebrafish embryos, as well as in myofibers of adult zebrafish and juvenile seabream.

Male dominance linked to size and age, but not to 'good genes' in brown trout (Salmo trutta).

BACKGROUND: Males that are successful in intra-sexual competition are often assumed to be of superior quality. In the mating system of most salmonid species, intensive dominance fights are common and the winners monopolise most mates and sire most offspring. We drew a random sample of mature male brown trout (Salmo trutta) from two wild populations and determined their dominance hierarchy or traits linked to dominance. The fish were then stripped and their sperm was used for in vitro fertilisations in two full-factorial breeding designs. We recorded embryo viability until hatching in both experiments, and juvenile survival during 20 months after release into a natural streamlet in the second experiment. Since offspring of brown trout get only genes from their fathers, we used offspring survival as a quality measure to test (i) whether males differ in their genetic quality, and if so, (ii) whether dominance or traits linked to dominance reveal 'good genes'. RESULTS: We found significant additive genetic variance on embryo survival, i.e. males differed in their genetic quality. Older, heavier and larger males were more successful in intra-sexual selection. However, neither dominance nor dominance indicators like body length, weight or age were significantly linked to genetic quality measured as embryo or juvenile survival. CONCLUSION: We found no evidence that females can improve their offspring's genetic viability by mating with large and dominant males. If there still were advantages of mating with dominant males, they may be linked to non-genetic benefits or to genetic advantages that are context dependent and therefore possibly not revealed under our experimental conditions - even if we found significant additive genetic variation for embryo viability under such conditions.

Lamella formation and emigration from the water by a laboratory colony of Biomphalaria glabrata (SAY) in flow-through system

Lamella formation and emigration from the water were investigated in juvenile Biomphalaria glabrata reared at two temperatures in aquaria with a constant water flow. Most snails (97.4%) reared at the lower temperature (21- C) formed lamella at the shell aperture and emigrated from the water, whereas only 10.1% did so at 25- C. Eighty percent of emigrations at 21- C occurred within a period of 15 days, 70-85 days after hatching. A comparison of the studies done so far indicates that the phenomenon may be affected by the ageing of snail colonies kept in the laboratory and their geographic origin, rather than the rearing conditions. This hypothesis, however, requires experimental confirmation.

Delinquency in male adolescents: the role of alexithymia and family structure

The purpose of this study was to examine the linkages between alexithymia and delinquency in male adolescents (age ranging from 14 to 18 years), and to investigate whether alexithymia was a good discriminatory factor for juvenile delinquency. Thirty-six offender adolescents and 46 non-offender control adolescents participated in the study and completed the 20-item Toronto Alexithymia Scale (TAS-20) (alexithymia), the Revised Children's Manifest Anxiety Scale (R-CMAS) (anxiety), the Liste d'Adjectifs Bipolaires et en Echelles de Likert (LABEL) (personality-Big Five) and demographic data. Findings revealed that the adolescents of the offender group scored high on alexithymia and that proportion of disrupted family structure in the offender group is higher than in the control group. Logistic regressions confirmed that alexithymia and family structure are the strongest discriminatory factors for juvenile delinquency. Limitations and clinical implications are discussed, and recommendations for future research are provided

Bimodal magmatism as a consequence of the post-collisional readjustment of the thickened Variscan continental lithosphere (Aiguilles Rouges - Mont Blanc Massifs, Western Alps)

High Precision U-Pb zircon and monazite dating in the Aiguilles Rouges-Mont Blanc area allowed discrimination of three short-lived bimodal magmatic pulses: the early 332 Ma Mg-K Pormenaz monzonite and associated 331 Ma peraluminous Montees Pelissier monzogranite; the 307 Ma cordierite-bearing peraluminous Vallorcine and Fully intrusions; and the 303 Fe-K Mont Blanc syenogranite. All intruded syntectonically along major-scale transcurrent faults at a time when the substratum was experiencing tectonic exhumation, active erosion recorded in detrital basins and isothermal decompression melting dated at 327-320 Ma. Mantle activity and magma mixing are evidenced in all plutons by coeval mafic enclaves, stocks and synplutonic dykes. Both crustal and mantle sources evolve through time, pointing to an increasingly warm continental crust and juvenile asthenospheric mantle sources. This overall tectono-magmatic evolution is interpreted in a scenario of post-collisional restoration to normal size of a thickened continental lithosphere. The latter re-equilibrates through delamination and/or erosion of its mantle root and tectonic exhumation/erosion in an overall extensional regime. Extension is related to either gravitational collapse or back-are extension of a distant subduction zone.

Differential distribution of tau proteins in developing cat cerebellum.

The differential distribution and phosphorylation of tau proteins in cat cerebellum was studied with two well characterized antibodies, TAU-1 and TAU-2. TAU-1 detects tau proteins in axons, and the epitope in perikarya and dendrites is masked by phosphorylation. TAU-2 detects a phosphorylation-independent epitope on tau proteins. The molecular composition of tau proteins in the range of 45 kD to 64 kD at birth changed after the first postnatal month to a set of several adult variants of higher molecular weights in the range of 59 kD to 95 kD. The appearance of tau proteins in subsets of axons corresponds to the axonal maturation of cerebellar local-circuit neurons in granular and molecular layers and confirms previous studies. Tau proteins were also identified in synapses by immunofluorescent double-staining with synapsin I, located in the pinceau around the Purkinje cells, and in glomeruli. Dephosphorylation of juvenile cerebellar tissue by alkaline phosphatase indicated indirectly the presence of differentially phosphorylated tau forms mainly in juvenile ages. Additional TAU-1 immunoreactivity was unmasked in numerous perikarya and dendrites of stellate cells, and in cell bodies of granule cells. Purkinje cell bodies were stained transiently at juvenile ages. During postnatal development, the intensity of the phosphate-dependent staining decreased, suggesting that phosphorylation of tau proteins in perikarya and dendrites may be essential for early steps in neuronal morphogenesis during cat cerebellum development.

Tasas de reincidencia 2008 de justícia juvenil: actualización de la tasa de reincidencia de los jóvenes sometidos a medidas de libertad vigilada e internamiento en centro

El estudio actualiza por cuarto año las tasas de reincidencia juvenil en las medidas de libertad vigilada e internamiento en Catalunya. En este caso se ha seguido a la población que finalizó una medida el año 2005 y se les ha seguido hasta el 31 de diciembre de 2008. Los resultados nos dicen que se mantiene la tasa de libertad vigilada (23,0%) y sube ligeramente aunque sin ser significativamente diferente respecto del año pasado la de internamiento (62,3%). The study updates the rates for the fourth year of recidivism in the juvenile probation and confinement in Catalunya. In this case, the population that ends a punishment in 2005 were followed until December 31, 2008. The results tell us that maintaining the rate of probation (23.0%) and rises slightly but not significantly different from last year the rate of confinement (62.3%). El estudio actualiza por cuarto año las tasas de reincidencia juvenil en las medidas de libertad vigilada e internamiento en Catalunya. En este caso se ha seguido a la población que finalizó una medida el año 2005 y se les ha seguido hasta el 31 de diciembre de 2008. Los resultados nos dicen que se mantiene la tasa de libertad vigilada (23,0%) y sube ligeramente aunque sin ser significativamente diferente respecto del año pasado la de internamiento (62,3%)

Taxes de reincidència 2006 de justícia juvenil: actualització de la taxa de reincidència dels joves sotmesos a mesures de llibertat vigilada i internament en centre

L’estudi actualitza les taxes de reincidència dels menors sotmesos a una mesura d’internament o de llibertat vigilada que van ser publicades a la recerca “La reincidència en el delicte en la justícia de menors” l’any 2005. Si en aquell estudi es recollien per primer cop dades sobre la reincidència dels joves infractors que havien entrat en el circuit de la justícia de menors després de la posada en marxa de la Llei Orgànica 5/2000, de 12 de gener, reguladora de la responsabilitat penal dels menors (LORPM), en aquest s’actualitzen les dades pel col•lectiu de joves que van ser sotmesos a mesures de llibertat vigilada i internament i que les van finalitzar durant l’any 2003. Es fa un seguiment als joves fins a finals del 2006 per saber si han reincidit. També s’ha seguit als joves que hagin arribat a la majoria d’edat per saber si han entrat novament en el sistema d’execució penal, en aquest cas sentenciat al compliment d’una mesura penal alternativa, o a una mesura de privació de llibertat. L’estudi pretén iniciar una sèrie que permeti comparar els resultats anualment, de manera que puguem veure l’evolució de l’execució penal juvenil en algunes de les variables estudiades.

Taxes de reincidència 2007 de justícia juvenil Actualització de la taxa de reincidència dels joves sotmesos a mesures de llibertat vigilada i internament en centre

L’estudi actualitza les taxes de reincidència dels menors sotmesos a una mesura d’internament o de llibertat vigilada que van ser publicades a la recerca “La reincidència en el delicte en la justícia de menors” finalitzada l’any 2005 i que van iniciar la sèrie. Aquesta recerca ja és la tercera del mateix tipus i en aquest cas estudia els joves que van finalitzar una mesura de llibertat vigilada i d’internament l’any 2004 i els segueix fins el 31 de desembre de 2007, per saber si han comès un nou delicte que hagi estat detectat per la Xarxa d’execució penal, tant de joves com d’adults. S’ha estudiat tota la població de joves desinternats de centres (N=169 subjectes l’any 2004). En el cas de llibertat vigilada, del total de joves que finalitzaren mesura l’any 2004 (N= 718), s’ha fet una mostra de 558 subjectes (interval de confiança:95,5%; marge d’error±2;p=q=50). Els resultats en llibertat vigilada apunten un descens significatiu en la taxa de reincidència, que ha passat del 31,9% al 2005 al 22,0% el 2007. En canvi en internament la fluctuació de la taxa no dona diferències significatives tot i que el 2005 era del 62,8%, va augmentar al 66,9% el 2006 i ha tornat a baixar al 56,2% l’any 2007. L’estudi permet comparar de forma seriada ja tres anys d’evolució de la taxa de reincidència juvenil després de la posada en marxa de la Llei Orgànica 5/2000, de 12 de gener, reguladora de la responsabilitat penal dels menors (LORPM).

Tasas de reincidencia 2007 de justicia juvenil: actualización de la tasa de reincidencia de los jóvenes sometidos a medidas de libertad vigilada y internamiento en centro

El estudio actualiza las tasas de reincidencia que se publicaron en 2005 en la investigación “La reincidencia en el delito en la justicia de menores”, relativas al colectivo de jóvenes que finalizaron medidas de libertad vigilada e internamiento durante el año 2004. Para ello se ha realizado un seguimiento de estos sujetos hasta finales de 2007. Este es ya el tercer estudio que se realiza de forma seriada sobre esta materia, y permite comparar los tres años de evolución de la tasa de reincidencia juvenil tras la puesta en marcha de la Ley Orgánica 5/2000, reguladora de la responsabilidad penal de los menores.

Estudi de l'organogènesi del sistema reproductor de la cabra de mar (Maja brachydactyla) i efecte dels factors ambientals sobre la reproducció en captivitat

Diferents aspectes de la reproducció de la cabra de mar Maja brachydactyla s’han estudiat amb l’objectiu d’obtenir coneixements bàsics i aplicats al cultiu en captivitat d’aquesta espècie de gran interès comercial i aqüícola. L’anatomia interna de l’aparell reproductor masculí, el procés d’espermatogènesi, amb especial èmfasi amb la formació de l’acrosoma, i l’estructura i organització l’espermatozoide s’han descrit amb tècniques microscòpiques avançades. El desenvolupament de les gònades durant els primeres fases del desenvolupament post- embrionari (fases larvàries i primer cranc juvenil) han estat descrites mitjançant la quantificació de l’expressió del gen vasa, el qual és expressat específicament per les cèl•lules de la línia germinal. Aquests coneixements són bàsics per a la comprensió del paper dels mascles en la la reproducció i la seva aplicació posterior en condicions de captivitat. La reproducció en captivitat s’ha estudiat amb una sèrie d’experiments amb l’objectiu de determinar la quantitat, pes sec i composició bioquímica proximal de les larves acabades d’eclosionar en condicions de captivitat i l’efecte de les condicions ambientals, com ara el fotoperíode i la salinitat, sobre aquests paràmetres. Aquests experiments demostren què es poden obtenir larves de la cabra de mar en condicions de captivitat què podrien ser utilitzades per a la producció i l’efecte sobre la reproducció del fotoperíode i salinitat.

Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis.

OBJECTIVE: Familial cold urticaria (FCU) and Muckle-Wells syndrome (MWS) are dominantly inherited autoinflammatory disorders that cause rashes, fever, arthralgia, and in some subjects, AA amyloidosis, and have been mapped to chromosome 1q44. Sensorineural deafness in MWS, and provocation of symptoms by cold in FCU, are distinctive features. This study was undertaken to characterize the genetic basis of FCU, MWS, and an overlapping disorder in French Canadian, British, and Indian families, respectively. METHODS: Mutations in the candidate gene NALP3, which has also been named CIAS1 and PYPAF1, were sought in the study families, in a British/Spanish patient with apparent sporadic MWS, and in matched population controls. Identified variants were sought in 50 European subjects with uncharacterized, apparently sporadic periodic fever syndromes, 48 subjects with rheumatoid arthritis (RA), and 19 subjects with juvenile idiopathic arthritis (JIA). RESULTS: Point mutations, encoding putative protein variants R262W and L307P, were present in all affected members of the Indian and French Canadian families, respectively, but not in controls. The R262W variant was also present in the subject with sporadic MWS. The V200M variant was present in all affected members of the British family with MWS, in 2 of the 50 subjects with uncharacterized periodic fevers, and in 1 of 130 Caucasian and 2 of 48 Indian healthy controls. No mutations were identified among the subjects with RA or JIA. CONCLUSION: These findings confirm that mutations in the NALP3/CIAS1/PYPAF1 gene are associated with FCU and MWS, and that disease severity and clinical features may differ substantially within and between families. Analysis of this gene will improve classification of patients with inherited or apparently sporadic periodic fever syndromes.

Spondylarthropathies in children--are they different from those in adults?

Juvenile spondylarthropathies (JSpAs) comprise a group of rheumatic diseases distinct from other categories of juvenile arthritis. Several classification systems have been applied, and some are specific for children, such as the seronegative enthesopathy and arthropathy (SEA) syndrome and the enthesitis-related arthritis, diagnostic forms in the International League of Associations for Rheumatism (ILAR) classification. JSpA seems more frequent than was previously believed, but actual epidemiological data show important variations between studies. Compared to adult patients, children with JSpA present with peripheral arthritis and enthesitis early in disease but sacroiliac and spine joints involvement many years later. A multidisciplinary team in a paediatric environment should be responsible for the management of children with spondylarthropathies to ensure the best care for these children with their chronic disease and risk of long-term disability. Recent advances in the treatment of rheumatic diseases with biological agents show promising results in children with JSpA. Further research needs to be conducted to increase our knowledge of the long-term outcome of these patients, to improve management, and to prevent long-term consequences of the disease.

Spectrum of Morphologic Changes of Lymph Nodes in HIV Infection

Cervical lymph nodes biopsies from 31 HIV positive patients (with or without AIDS) were studied by histologic methods and immunohistochemistry (StreptABC staining of paraffin sections) to identify cellular and extracellular matrix components. The results were the following: (1) the biopsies were included in the stages of follicular hyperplasia without fragmentation FH-FF (4 cases); follicular hyperplasia with follicular fragmentation FH+FF (16 cases); follicular involution FI (6 cases) and diffuse pattern DP (5 cases); (2) the most important alteration was the germinal centers disruption due to follicle lysis, which began in the light zone; (3) there was coincidence between intrafollicular hemorrhages and segmental hyaline mycroangiopathy; (4) during the progression of the disease occurred: (a) an increase in the number of mast cells, CD68+ and Mac387+ macrophages; (b) a diffuse augment of collagen III, elastic fibers, laminin, fibronectin and proteoglycans; (c) maintenance of Factor VIII - related antigens in the vascular endothelial cells, with decrease in the expression of Ulex-Europeus I lectin. Follicular hyperplasia (FH-FF or FH+FF) was the most common histologic pattern recognized in the lymph nodes of patients without AIDS and follicular involution and difuse pattern were seen in those who had AIDS. The results indicate that the lymph node biopsies may provide important information about the evolutive stage of the disease and its prognosis.