223 resultados para SMITH-MAGENIS-SYNDROME
Resumo:
The aim of this article is to provide an exploration how the work of two theorists with notably different stances could be used effectively to enhance critical research methods in relation to the history of child welfare social work. The design and implementation of child welfare policies, practices and discourses could considerably benefit from a more historically well grounded scholarship that enables actors to connect their present concerns with the broader historical dynamics of social regulation. The article reports on how the work of Michel Foucault and Dorothy E. Smith might be considered in parallel as two different perspectives to the same scene in time and place. The differences and similarities in their approaches are explored with an emphasis on concepts most relevant to researching child welfare archives including discourse, text, the subject and power-knowledge. The article concludes with a commentary on further development to take forward this methodological analysis.
Resumo:
Background: Observational and epidemiologic data indicate that the use of aspirin reduces the risk of colorectal neoplasia; however, the effects of aspirin in the Lynch syndrome (hereditary nonpolyposis colon cancer) are not known. Resistant starch has been associated with an antineoplastic effect on the colon.
Resumo:
Background: Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant cancer predisposition syndrome characterised by oro-facial pigmentation and hamartomatous polyposis of the gastrointestinal tract. A causal germline mutation in STK11 can be identified in 30% to 80% of PJS patients.
Resumo:
Background: Germline mutations or large-scale deletions in the coding region and splice sites of STK11/LKB1 do not account for all cases of Peutz-Jeghers syndrome (PJS). It is conceivable that, on the basis of data from other diseases, inherited variation in promoter elements of STK11/LKB1 may cause PJS.
Resumo:
The existence of familial de Lange syndrome has been documented in sibs and in parent-child families, but the inheritance pattern continues to be the cause of much debate. We describe a classically affected neonate with de Lange syndrome, an affected mother and probably affected maternal grandmother. These cases show evidence for a dominantly inherited syndrome with a de Lange phenotype.