An advertisement for Applebox Productions depicts the new youth consumer: his scraggly dishwater blonde hair hangs down into his glaring eyes, his chin is thrust out, his mouth is turned down into a challenging sneer, and his finger posed over the remote. One false move and he'll zap us. He's young, male, and in control. No longer a couch potato, he determines what, when, and how he watches med...

Farnesoid X receptor (FXR) is a transcription factor that controls bile acid homeostasis. The phenotype of Fxr null mice is characterized by hypercholanaemia, impaired secretion of bile acids and failure to thrive. Human disorders with these characteristics include FIC1 disease (caused by mutations in ATP8B1, which encodes a putative aminophospholipid translocase, FIC1, whose function in bile h...

In this paper, we present the results from a field experiment in the Netherlands in which single mothers on welfare were stimulated to find a job. Two policy instruments were introduced: an earnings disregard and job creation. The experiment was performed at the level of municipalities. In our analysis we make a distinction between native and immigrant welfare recipients. For immigrant single m...

This article investigates the effects of the quality of the relationship between maternal caregivers and their adult child with disabilities on maternal well-being and whether this effect is mediated by dispositional optimism. Mothers caring for an adult child with Down syndrome (n=126), schizophrenia (n=292), or autism (n=102) were surveyed. Mothers of adults with schizophrenia and autism had ...

This study evaluates the impact in the stability and management of the marriage of parents of a child with Down or Rett Syndrome. Morbidity of the syndromes and the marital status of the couples before and after the birth of the affected children were considered variables. The divorce rate in families with Down syndrome was 10%, similar to the Brazilian rate population. In Rett Syndrome, the di...

Farnesoid X receptor (FXR) is a transcription factor that controls bile acid homeostasis. The phenotype of Fxr null mice is characterized by hypercholanaemia, impaired secretion of bile acids and failure to thrive. Human disorders with these characteristics include FIC1 disease (caused by mutations in ATP8B1, which encodes a putative aminophospholipid translocase, FIC1, whose function in bile h...

Certain congenital disorders that are rare in the general population are quite common in individuals with trisomic conditions. For example, complete atrioventricular septal defect occurs in about 20% of individuals with Down syndrome, an approximately 500-fold increase in risk as compared to individuals without Down syndrome. Genetic variation on the chromosome involved in the trisomy may affec...

AIM The purpose of the present research was a presentation of case report of Robertsonian translocation composed of homologous chromosomes 21q;21q and reproductive risk found in the family affected by this type oftranslocation. METHODS Cytogenetic diagnosis has been done on chromosome preparations of lymphocytes cultured from peripheral blood by Moorhead method. RESULTS Analyses of cytogene...

Firstly, research addressing early intervention in Down syndrome is discussed. It is argued, in contrast to prior reviewers, that early intervention in Down syndrome does seem to yield positive effects in different developmental domains. However, the evidence of long-term effects appears to be mixed, albeit the implications of this state of affairs are arguable. Secondly, some recent trends in ...

BACKGROUND Children with Down syndrome suffer from recurrent respiratory tract and ear-nose-throat complaints that influence daily life. Little is known about the frequency of these complaints, as well as their relation to co-morbidity and ageing. METHODS/DESIGN A prospective web-based parent-reported observational study was designed for parents having a child with Down syndrome (age 0 to 18 ...