57 research outputs found
Pycnogonids (Arthropoda: Pycnogonida) of Portofino, Ligurian Sea (North-Western Mediterranean Sea)
Pycnogonida collected monthly from September 2017 to August 2018 in the Portofino Marine Protected Area at
0\u20135 m depth were studied. A total of 499 specimens were collected, 457 of which were identified to species level. These
were classified as belonging to 10 species: Achelia echinata*, Ascorhynchus castelli, Neotrygaeus communis*, Tanystylum
conirostre*, Anoplodactylus angulatus, A. petiolatus, A. pygmaeus*, A. virescens, Callipallene phantoma and C. tiberi*. For
five dominant species (those marked with an asterisk) the annual phenology was outlined. Four hundred and seventeen
additional specimens, collected from the same area and depth range mainly during the 1970s and 1980s were identified to
species level for completeness of information, leading to the addition of Pycnogonum pusillum and Endeis spinosa
Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation
Abstract
Background
Obsessive-compulsive disorder (OCD) is a heterogeneous neuropsychiatric condition, thought to have a significant genetic component. When onset occurs in childhood, affected individuals generally exhibit different characteristics from adult-onset OCD, including higher prevalence in males and increased heritability. Since neuropsychiatric conditions are associated with copy number variations (CNVs), we considered their potential role in the etiology of OCD.
Methods
We genotyped 307 unrelated pediatric probands with idiopathic OCD (including 174 that were part of complete parent-child trios) and compared their genotypes with those of 3861 population controls, to identify rare CNVs (<0.5 % frequency) of at least 15 kb in size that might contribute to OCD.
Results
We uncovered de novo CNVs in 4/174 probands (2.3 %). Our case cohort was enriched for CNVs in genes that encode targets of the fragile X mental retardation protein (nominal p = 1.85 × 10−03; FDR=0.09), similar to previous findings in autism and schizophrenia. These results also identified deletions or duplications of exons in genes involved in neuronal migration (ASTN2), synapse formation (NLGN1 and PTPRD), and postsynaptic scaffolding (DLGAP1 and DLGAP2), which may be relevant to the pathogenesis of OCD. Four cases had CNVs involving known genomic disorder loci (1q21.1-21.2, 15q11.2-q13.1, 16p13.11, and 17p12). Further, we identified BTBD9 as a candidate gene for OCD. We also sequenced exomes of ten “CNV positive” trios and identified in one an additional plausibly relevant mutation: a 13 bp exonic deletion in DRD4.
Conclusions
Our findings suggest that rare CNVs may contribute to the etiology of OCD.http://deepblue.lib.umich.edu/bitstream/2027.42/134675/1/11689_2016_Article_9170.pd
Indagini Geofisiche
Nell'ambito del progetto per la Microzonazione sismica dell'area aquilana, coordinata dal DPC, il Gruppo di Lavoro ha condotto le indagini di MS nella Conca di Roio.Published336-3854T. Sismologia, geofisica e geologia per l'ingegneria sismic
Il lavoro e la sua regolazione: la terza crisi
La pandemia ha aggravato le disuguaglianze nei mercati del lavoro e, contemporaneamente, ha accelerato i cambiamenti della transizione economica sociale e tecnologica già in corso da qualche tempo, delineando uno scenario di doppia distruzione del lavoro. La terza crisi del lavoro, che colpisce a poca distanza dalla seconda, pone di fronte nuovi scenari e nuove sfide. L'articolo focalizza, in particolare, alcune trasformazioni nell'ambito del lavoro e della sua regolazione. Tra queste sono indagate, anche sulla base di esperienze e studi di caso, le nuovi istituti integrazione tra diversi settori delle politiche, quale risposta attivata dallo Stato, dagli enti locali e da altri attori. In prospettiva, potrebbe riproporsi un assetto delle relazioni industriali di tipo plurale, legato al "ritorno" dei territori, al decentramento contrattuale e insieme soprattutto un nuovo paradigma relazionale tra capitale e lavoro non necessariamente sostenuto dai conflitti tradizionali
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