989 resultados para mental deficiency


Relevância:

20.00% 20.00%

Publicador:

Resumo:

Two novel mutations were identified in a compound heterozygous male with lecithin:cholesterol acyltransferase (LCAT) deficiency. Exon sequence determination of the LCAT gene of the proband revealed two novel heterozygous mutations in exons one (C110T) and six (C991T) that predict non-conservative amino acid substitutions (Thr13Met and Pro307Ser, respectively). To assess the distinct functional impact of the separate mutant alleles, studies were conducted in the proband's 3-generation pedigree. The compound heterozygous proband had negligible HDL and severely reduced apolipoprotein A-I, LCAT mass, LCAT activity, and cholesterol esterification rate (CER). The proband's mother and two sisters were heterozygous for the Pro307Ser mutation and had low HDL, markedly reduced LCAT activity and CER, and the propensity for significant reductions in LCAT protein mass. The proband's father and two daughters were heterozygous for the Thr13Met mutation and also displayed low HDL, reduced LCAT activity and CER, and more modest decrements in LCAT mass. Mean LCAT specific activity was severely impaired in the compound heterozygous proband and was reduced by 50% in individuals heterozygous for either mutation, compared to wild type family members. It is also shown that the two mutations impair both catalytic activity and expression of the circulating protein.

Relevância:

20.00% 20.00%

Publicador:

Relevância:

20.00% 20.00%

Publicador:

Resumo:

Most studies of conceptual knowledge in the brain focus on a narrow range of concrete conceptual categories, rely on the researchers' intuitions about which object belongs to these categories, and assume a broadly taxonomic organization of knowledge. In this fMRI study, we focus on concepts with a variety of concreteness levels; we use a state of the art lexical resource (WordNet 3.1) as the source for a relatively large number of category distinctions and compare a taxonomic style of organization with a domain-based model (associating concepts with scenarios). Participants mentally simulated situations associated with concepts when cued by text stimuli. Using multivariate pattern analysis, we find evidence that all Taxonomic categories and Domains can be distinguished from fMRI data and also observe a clear concreteness effect: Tools and Locations can be reliably predicted for unseen participants, but less concrete categories (e.g., Attributes, Communications, Events, Social Roles) can only be reliably discriminated within participants. A second concreteness effect relates to the interaction of Domain and Taxonomic category membership: Domain (e.g., relation to Law vs. Music) can be better predicted for less concrete categories. We repeated the analysis within anatomical regions, observing discrimination between all/most categories in the left middle occipital and temporal gyri, and more specialized discrimination for concrete categories Tool and Location in the left precentral and fusiform gyri, respectively. Highly concrete/abstract Taxonomic categories and Domain were segregated in frontal regions. We conclude that both Taxonomic and Domain class distinctions are relevant for interpreting neural structuring of concrete and abstract concepts.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

A good understanding of the different theoretical models is essential when working in the field of mental health. Not only does it help with understanding experiences of mental health difficulties and to find meaning, but it also provides a framework for expanding our knowledge of the field.

As part of the Foundations of Mental Health Practice series, this book provides a critical overview of the theoretical perspectives relevant to mental health practice. At the core of this book is the idea that no single theory is comprehensive on its own and each theory has its limitations. Divided in to two parts, Part I explores traditional models of mental health and covers the key areas: bio-medical perspectives, psychological perspectives and social perspectives, whilst Part II looks at contemporary ideas that challenge and push these traditional views. The contributions, strengths and limitations of each model are explored and, as a result, the book encourages a more holistic, open approach to understanding and responding to mental health issues.

Together, these different approaches offer students and practitioners a powerful set of perspectives from which to approach their study and careers. Each model is covered in a clear and structured way with supporting exercises and case studies. It is an essential text for anyone studying or practising in the field of mental health, including social workers, nurses and psychologists.