Search results for "intellectual"
showing 10 items of 578 documents
Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer
2019
Este es el artículo que se ha publicado de forma definitiva en: https://molecularautism.biomedcentral.com/articles/10.1186/s13229-019-0262-8 En este artículo también participa Joan Climent, Vera Pancaldi, Lourdes Fañanás, Celso Arango, Mara Parellada, Anaïs Baudot, Daniel Vogt, John L. Rubenstein, Alfonso Valencia y Rafael Tabarés-Seisdedos. Background: Epidemiological and clinical evidence points to cancer as a comorbidity in people with autism spectrum disorders (ASD). A significant overlap of genes and biological processes between both diseases has also been reported. Methods: Here, for the first time, we compared the gene expression profiles of ASD frontal cortex tissues and 22 cancer t…
In light of the ends. Copyright hysteresis and private copy exception after the British Academy of Songwriters, Composers and Authors (BASCA) and oth…
2015
In British Academy of Songwriters, Composers and Authors (BASCA) and others v Secretary of State for Business, Innovation and Skills, the High Court of Justice in matter of private copy exception provides the twofold prime opportunity to shed light on the state of the art of copyright in the UK and to flesh out the idea of 'legal hysteresis’. I support the reintroduction of the private copy exception, possibly in a less narrow fashion, and I explain the reasons why I am confident that my expectations will be fulfilled.
Verso la rappresentazione e valutazione dello sviluppo delle aziende : i limiti dell'informativa economico-finanziaria e il contributo di alcuni appr…
2009
Firms are dynamic entities in continuous change. This dynamism can lead to an improvement or worsening of the firm. Only in the first situation we can say that a firm is developing. The notion of firm's development does not have in literature an univocal interpretation and for this reason the first aim of the article is to illustrate an interpretation for a better understanding of this notion, which remains incomplete without appropriate instruments for the representation and evaluation of firm's development. The main purpose of this article is to reflect upon the manner to represent and to value this complex phenomenon. The analysis highlights, on the one hand, the limits of the financial …
Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome
2015
Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (<em>NIPBL</em>, <em>SMC3</em> and <em>SMC1A</em>), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the pro…
Intellectual capital reporting: A knowledge tool to coordinate a group of regional non-profit organisations
2017
Whilst many organizations worldwide have stopped disclosing Intellectual Capital (IC), to the best of our knowledge, the only longstanding NPO still measuring, managing and reporting its IC is a large Italian non-profit organization (NPO), ANPAS Piemonte. The main aim of the article is thus to investigate the reasons why ANPAS Piemonte continues to deal with IC, to examine the determinants of this choice, the costs and the benefits management gets from IC measurement, management and reporting. In other words, the paper aims to explore the intellectual capital (IC) reporting process from an internal, managerial point of view. The paper employ a case study methodology to address its aim, and …
History of education and the struggle for intellectual liberation in post-Soviet Baltic space after the fall of the Berlin Wall
2014
This study on a “new” history of education is written from the perspective of a participant in the process of discarding Soviet intellectual and physical boundaries. The fall of the Berlin Wall has, over the past two decades, become a continuous process in post-Soviet societies, when the now liberated historians of education were faced with a new challenge, namely integration into the newly opened world. The only allowed theory, Marxism-Leninism, reduced historians of education to superficial methodology and its trivialisation. However, the collapse of the USSR did not immediately result in new theoretical concepts, because historians were busy discovering fresh facts in newly accessed arch…
Array CGH defined interstitial deletion on chromosome 14: a new case
2009
Interstitial deletions of the long arm of chromosome 14 are relatively rare. We report a 8.5-year-old girl with dysmorphic facial features and mental retardation associated with a de novo interstitial deletion of chromosome 14. The comparison between our patient and all published patients is reviewed. The genetic investigations have allowed us to define the critical chromosomal region and to start an accurate follow-up.
Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures
2020
Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CNTNAP2 gene has also been suggested to have a causative role in individuals with a wide phenotypic spectrum, including Pitt-Hopkins syndrome, cortical dysplasia–focal epilepsy syndrome, Tourette syndrome, language dysfunction, and abnormal behavioral manifestations. Case presentation: A 10-years-old boy was referred to the hospital with mild intellectual disability and language impairment. Moreove…
International network of cancer genome projects
2010
International audience; The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumors from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of over 25,000 cancer genomes at the genomic, epigenomic, and transcriptomic levels will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically-relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies.
Cannabis Users and Premorbid Intellectual Quotient (IQ)
2017
• The chapter focuses on premorbid Intellectual Quotient (IQ) in cannabis users, one of the most controversial topics in studies on the harmful effects of cannabis use on cognition. • Several studies have ascertained acute and residual effects of cannabis use in the memory domain, but only a minimal general cognitive effect after a long-term period of abstinence. • A number of longitudinal studies were able to obtain IQ measures before and after cannabis consumption, but they yielded discordant findings. • Authors, however, observed a relationship between higher premorbid IQ and recreational or discontinued use while a lower premorbid IQ resulted as a predictor for regular or heavy cannabis…