Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.

We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project. These data have been further integrated and augmented by a number of evolutionary and computational analyses. Together, our results advance the collective knowledge about human genome function in several major areas. First, our studies provide convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts, including non-protein-coding transcripts, and those that extensively overlap one another. Second, systematic examination of transcriptional regulation has yielded new understanding about transcription start sites, including their relationship to specific regulatory sequences and features of chromatin accessibility and histone modification. Third, a more sophisticated view of chromatin structure has emerged, including its inter-relationship with DNA replication and transcriptional regulation. Finally, integration of these new sources of information, in particular with respect to mammalian evolution based on inter- and intra-species sequence comparisons, has yielded new mechanistic and evolutionary insights concerning the functional landscape of the human genome. Together, these studies are defining a path for pursuit of a more comprehensive characterization of human genome function.

Mothers' and Fathers' Early Relationship With Their Infant: Similar Yet Temporally Discordant Themes [La relation initiale des parents avec leur nourrisson: Thèmes similaires quoique temporellement discordants]

Objective: To examine first-time mothers' and fathers' themes in their relationship with their infant, how these themes change during the first four months postpartum, and similarities and differences in mothers' and fathers' themes. Participants: Eighteen first-time mother-father couples were separately interviewed at one; six and 16 weeks postpartum. Data Analysis: Audio-taped, transcribed interviews were analysed using a Grounded Theory approach. Results: Our findings reveal a common set of themes for mothers and fathers in relation to the infant : 1: Discovery, 2: Physical Proximity, 3: Emotional Closeness, 4: Initiation of Complementary Interactions and 5: Commitment to Love and Care. However, there was a striking lack of concordance between mothers and fathers for these themes at each point in time. Conclusions: Mothers' and fathers' experience of the early relationship with their infant is unique. Focussing on maternal as well as paternal ways of experiencing the early relationship with their infant sets the way to understanding early developing relationships in the family context.

Reducció de despeses ineficients i sostenibilitat de l'Estat del Benestar: el cas de Catalunya

Malgrat que el debat de l’Estat del Benestar està en el bell mig de l’actualitat política i econòmica des de fa uns quants anys amb graus ben diversos i aproximacions diferents, la darrera gran crisi ha disparat com mai la seva actualitat. Fins el present moment, amb algunes notables excepcions, totes les tendències han conduit a desenvolupar l’Estat del Benestar fins a extrems insostenibles. Això té explicacions múltiples i variades com les que s’aborden al llarg del present text. Aquestes tendències tenen una dinàmica econòmica i social pròpia que s’ha constatat amb força durant els darrers anys. Fa unes dues dècades que aquest debat va ser encetat amb profunditat per pocs països, però amb conclusions estimulants. Suècia és l’exemple més reeixit. La reforma duta a terme en el país nòrdics és una referència de primer ordre per molts estudiosos del tema i hauria de ser font d’inspiració per a la resta de països. Seguidament, hem volgut descriure, de forma complementària i des d’una perspectiva econòmica i jurídica, un fenomen estrictament lligat al desenvolupament imparable de l’Estat del Benestar, el de la burocratització. La reflexió d’acadèmics d’escoles en diferents i, en particular, els de la Public Choice proporcionen una visió rica i complexa, que entenem fonamental per avaluar els problemes que se’n deriven. Finalment, dins el marc de la Hisenda Pública i entrant en l’estudi concret del cas català, hem volgut endinsar-nos en l’anàlisi del pressupost. Essent com és una eina indispensable per avaluar el conjunt de polítiques econòmiques i socials d’un país. Aquesta anàlisi es duu a terme des d’una doble perspectiva: la primera, mitjançant un estudi comparatiu de l’evolució del Pressupost de la Generalitat dels darrers anys i, en segon terme, el canvi que el Pressupost 2011 materialitza aquest any, prefigura el de l’any 2012 i les principals crítiques de l’oposició. Queden oberts els camins envers els possibles canvis. De fet, res està definitivament escrit, però la pretensió d’aquest treball és modesta i, alhora, clara. Sense embuts, si volem mantenir un grau de benestar sostenible, és fonamental deixar de banda l’actual concepció de l’Estat del Benestar i començar a treballar per implementar els profunds canvis necessaris que donin pas a l’únic model que, a parer nostre, aconseguirà que això sigui possible: la Societat del Benestar. Una concepció actual del paper que ha de tenir l’Estat, de caràcter liberal i, alhora, social.

Teleost fish larvae adapt to dietary arachidonic acid supply through modulation of the expression of lipid metabolism and stress response genes

Dietary fatty acid supply can affect stress response in fish during early development. Although knowledge on the mechanisms involved in fatty acid regulation of stress tolerance is scarce, it has often been hypothesised that eicosanoid profiles can influence cortisol production. Genomic cortisol actions are mediated by cytosolic receptors which may respond to cellular fatty acid signalling. An experiment was designed to test the effects of feeding gilthead sea-bream larvae with four microdiets, containing graded arachidonic acid (ARA) levels (0·4, 0·8, 1·5 and 3·0 %), on the expression of genes involved in stress response (steroidogenic acute regulatory protein, glucocorticoid receptor and phosphoenolpyruvate carboxykinase), lipid and, particularly, eicosanoid metabolism (hormone-sensitive lipase, PPARα, phospholipase A2, cyclo-oxygenase-2 and 5-lipoxygenase), as determined by real-time quantitative PCR. Fish fatty acid phenotypes reflected dietary fatty acid profiles. Growth performance, survival after acute stress and similar whole-body basal cortisol levels suggested that sea-bream larvae could tolerate a wide range of dietary ARA levels. Transcription of all genes analysed was significantly reduced at dietary ARA levels above 0·4 %. Nonetheless, despite practical suppression of phospholipase A2 transcription, higher leukotriene B4 levels were detected in larvae fed 3·0 % ARA, whereas a similar trend was observed regarding PGE2 production. The present study demonstrates that adaptation to a wide range of dietary ARA levels in gilthead sea-bream larvae involves the modulation of the expression of genes related to eicosanoid synthesis, lipid metabolism and stress response. The roles of ARA, other polyunsaturates and eicosanoids as signals in this process are discussed.

Neyraiella distinctus n. sp. (Oxyurida, Blattophilidae) Parasite of Nymphs of Gryllodes laplatae Sauss (Orthoptera, Gryllidae) in Argentina

Neyraiella distinctus n. sp. was found parasitizing nymphs of the cricket Gryllodes laplatae Sauss in City Bell, Argentina. This species was characterized by having the excretory pore in the posterior end of the basal bulb, vulva protruding with one lip well developed in the 1/3 end of the body, anus of the female with wings, male with a single spicule without any sculpture, gubernaculum and bursa are absent, six pairs of genital papillae arranged in two preanal pairs, one adanal pair and three postanal pairs, and the tail appendage in both sexes was short and conic.

Sistema d'Informació Geogràfica de Distribució d'Aigües

En aquest projecte es fa la implamantació d'un sistema d'informació geogràfica per la xarxa de distribució d'aigües de la població Bell-lloc d'Urgell. A més a més de tenir digitalitzada tota la zarza, s'incorpora un sistema de gestió, control i seguiment d'avaries.

Paralysie faciale: mise a jour pour le praticien [Facial palsy: update for the practitioner].

The clinical significance of facial palsy hinges on its psychosocial consequences. While its causes are very numerous, several infections account for a majority of cases: Lyme disease, geniculate zoster (Ramsay Hunt syndrome), while the role of HSV-1 in essential (Bell's) palsy remains controversial. Essentials of facial palsy management are discussed, including the importance of the functional grading of palsy, the complexity of Lyme disease serological diagnosis, and its treatment using doxycycline, antiviral and steroids treatment of geniculate zoster, while regarding essential facial palsy, only steroids, but not antiviral have been shown to improve functional recovery.

Malaise du nourrisson pensez à une intoxication à l'anis étoil [Apparent life-threatening event in infants: think about star anise intoxication!].

In previous years, several publications have reported cases of infants presenting neurological and gastrointestinal symptoms after ingestion of star anise tea. Such teas are sometimes given in various cultures for the treatment of infant colic pains. In most cases, the cause of intoxication was contamination of Chinese star anise (Illicium verum) by Japanese star anise (Illicium anisatum). Indeed, the toxicity of Illicium anisatum, also known as Shikimi, is caused by its content in potent neurotoxins (anisatin, neoanisatin, and pseudoanisatin), due to their activity as non-competitive antagonists of GABA receptors. The main reasons explaining the frequent contaminations are the strong macroscopic resemblance of the 2 substances, as well as the fact that the fruits are often sold partially broken or in ground form. Therefore, in most cases, chemical analysis is required to determine the possible adulterations. CASE REPORT: A 2-month-old infant, in good general health, was brought to the emergency unit after 3 consecutive episodes of central cyanosis and tetany of the limbs with spontaneous recovery the same afternoon. The child was also very irritable, regurgitated a lot, and positioned himself in opisthotonos. Between these episodes, the neurological exam showed some perturbations (horizontal nystagmus and Bell's phenomenon, hypertony of the extensor muscles, and mild hypotony of the axial flexor muscles) with slow improvement over the following hours. The remaining clinical exam, the laboratory work (complete blood count, renal, hepatic, and muscular tests, capillary blood gas, plasmatic amino acids, and urinary organic acids), and the electroencephalogram findings were all normal. In the course of a detailed interview, the parents reported having given 3 bottles to their child, each one containing 200 mL of an infusion with 4 to 5 fruits of star anise, in the hours preceding the symptoms to relieve colic pains. The last seizure-like event took place approximately 8h after the last ingestion. We could prove the ingestion of anisatin, the toxic substance found in Japanese star anise, and the contamination of Chinese star anise by the Japanese species. Indeed, the anisatin analysis by liquid chromatography and mass spectroscopy (LC-MS) in a urine sample taken 22 h after the last infusion ingestion showed trace amounts of the substance. In another urine sample taken 33 h after ingestion, no anisatin could be detected. Furthermore, the analysis of the fruit sample gave an anisatin concentration of 7800 μg/kg while the maximum tolerance value in Switzerland is 1000 μg/kg. CONCLUSION: The evaluation of ALTE in infants should always include the possibility of intoxication. Star anise is generally considered a harmless medicine. Nevertheless, it can sometimes cause a severe intoxication resulting in various neurological and gastrointestinal symptoms. To prevent such events, not only the parents, but also the care personnel and pharmacists must be informed about the possible adverse effects caused either by the overdose of Chinese star anise or by the eventual contamination of herbal teas with Japanese star anise. A better control of the substances by the health authorities is also necessary.

Caracterització dels materials de l’ Església de Sant Feliu de Girona

La finalitat del present projecte es l’estudi dels materials de construcció delcampanar de Sant Feliu de Girona, es a dir com son la pedra de Girona i el morter decalç del que esta fet, analitzant el seu comportament i l’evolució soferta en les sevesdiverses parts des de que va ser construït. En aquest projecte s’intenta analitzar la construcció del campanar, els materials que el formen, d’on provenen i les solucions que es poden adoptar a l’hora de restaurar un monument com aquest

Proposta d’una xarxa d’espais naturals protegits a Andorra

Andorra és un microestat situat al bell mig Pirineus, històricament la dinàmica de la població i els seus costums han estat lligats a l’entorn i als recursos que aquest els ofereix. A partir dels anys 50 però, Andorra pateix un increment demogràfic i un canvi en les activitats que s’hi desenvolupen, amb un descens del pes del sector primari i un increment de les activitats del terciari. Aquest fet porta a l'expansió dels nuclis de població i un augment de l’oferta de serveis per a potenciar el turisme i el comerç , augmentant així la pressió sobre el medi, que es veu incrementada per la manca de control i de regulació en l’àmbit de l’ordenament territorial. En els últims anys però, s’han realitzat diferents actuacions que han intentat esmenar aquestes mancances, creant, per exemple, legislació d’ordenació del territori i urbanisme (2001), i els Parcs Naturals de la Vall de Sorteny (1999) i del Comapedrosa (2006). Tot i això, és evident que en l’actualitat existeixen encara moltes mancances que cal resoldre urgentment. Per aquest motiu es fa la la proposta d’una xarxa d’espais naturals protegits a Andorra i la creació d’unes directrius que en facilitin la seva gestió. Situant Andorra a l’alçada d’altres països europeus en matèria de protecció del medi natural, i proporcionant unes bases que permetin la gestió unificada d’aquesta xarxa.

Calcium imaging of odor-evoked responses in the Drosophila antennal lobe.

The antennal lobe is the primary olfactory center in the insect brain and represents the anatomical and functional equivalent of the vertebrate olfactory bulb. Olfactory information in the external world is transmitted to the antennal lobe by olfactory sensory neurons (OSNs), which segregate to distinct regions of neuropil called glomeruli according to the specific olfactory receptor they express. Here, OSN axons synapse with both local interneurons (LNs), whose processes can innervate many different glomeruli, and projection neurons (PNs), which convey olfactory information to higher olfactory brain regions. Optical imaging of the activity of OSNs, LNs and PNs in the antennal lobe - traditionally using synthetic calcium indicators (e.g. calcium green, FURA-2) or voltage-sensitive dyes (e.g. RH414) - has long been an important technique to understand how olfactory stimuli are represented as spatial and temporal patterns of glomerular activity in many species of insects. Development of genetically-encoded neural activity reporters, such as the fluorescent calcium indicators G-CaMP and Cameleon, the bioluminescent calcium indicator GFP-aequorin, or a reporter of synaptic transmission, synapto-pHluorin has made the olfactory system of the fruitfly, Drosophila melanogaster, particularly accessible to neurophysiological imaging, complementing its comprehensively-described molecular, electrophysiological and neuroanatomical properties. These reporters can be selectively expressed via binary transcriptional control systems (e.g. GAL4/UAS, LexA/LexAop, Q system) in defined populations of neurons within the olfactory circuitry to dissect with high spatial and temporal resolution how odor-evoked neural activity is represented, modulated and transformed. Here we describe the preparation and analysis methods to measure odor-evoked responses in the Drosophila antennal lobe using G-CaMP. The animal preparation is minimally invasive and can be adapted to imaging using wide-field fluorescence, confocal and two-photon microscopes.

Acid sensing by the Drosophila olfactory system.

The odour of acids has a distinct quality that is perceived as sharp, pungent and often irritating. How acidity is sensed and translated into an appropriate behavioural response is poorly understood. Here we describe a functionally segregated population of olfactory sensory neurons in the fruitfly, Drosophila melanogaster, that are highly selective for acidity. These olfactory sensory neurons express IR64a, a member of the recently identified ionotropic receptor (IR) family of putative olfactory receptors. In vivo calcium imaging showed that IR64a+ neurons projecting to the DC4 glomerulus in the antennal lobe are specifically activated by acids. Flies in which the function of IR64a+ neurons or the IR64a gene is disrupted had defects in acid-evoked physiological and behavioural responses, but their responses to non-acidic odorants remained unaffected. Furthermore, artificial stimulation of IR64a+ neurons elicited avoidance responses. Taken together, these results identify cellular and molecular substrates for acid detection in the Drosophila olfactory system and support a labelled-line mode of acidity coding at the periphery.