Supporting persons with developmental disability--a new model

The way we think about and care for people with developmental disability has changed. Twenty-five years ago, society believed that caregivers always knew what was best for their individual and that he or she must be shielded, even shut away from, the harms that could occur in society. Now, people with disability participate in all aspects of community life. They are educated in local schools, live at home or in their own home, and compete with others in the job market. Caregiving for people with developmental disability is no longer modeled on medicine or stigmatizing labels. Instead, caregivers have become support persons who focus on identifying community resources and making the environment friendlier and safer for persons with disability.     

Identification of a new mutation,S305C,in exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemia

DNA analysis of the low-density lipoprotein receptor gene of a young Brazilian man, suffering from an extreme form of hypercholesterolemia, revealed the presence of two mutations, thereby confirming the diagnosis of homozygous familial hypercholesterolemia (FH). The first mutation was a mutation frequently found in Brazilian patients with FH, termed C660X or FHLebanese. The second mutation, in which a serine residue was replaced by a cysteine at amino acid position 305 (S305C) was a new mutation never described before. S305C was inherited from the proband's mother, who was of Italian descent. The occurrence of LDL receptor gene mutations of Lebanese and Italian origin in Brazil underlines the genetic heterogeneity of the Brazilian population.     

Chronic ethanol feeding impairs endothelin-1-stimulated glucose uptake via decreased G alpha 11 expression in rat adipocytes

Chronic ethanol feeding decreases insulin-stimulated glucose uptake in rat adipocytes. Here, we show that chronic ethanol also decreases endothelin-stimulated glucose uptake. Endothelin-1 increased uptake of 2-deoxyglucose 2.4-fold in adipocytes isolated from pair-fed rats. However, in adipocytes isolated from rats that had consumed a diet containing 35% ethanol for 4 wk, endothelin-1 did not increase glucose uptake. Although endothelin-1 increased GLUT4 quantity at the plasma membrane in adipocytes from pair-fed rats, there was no increase in GLUT4 after chronic ethanol feeding. Loss of endothelin-1-stimulated glucose uptake after ethanol feeding was associated with a specific decrease in the quantity of Galpha11 in plasma membranes, with no change in Galphaq quantity. Activation of proline-rich tyrosine kinase 2 (PYK2), a downstream target of Galphaq/11 that is required for endothelin-1-stimulated GLUT4 translocation in 3T3-L1 adipocytes, was also suppressed after chronic ethanol feeding. In contrast, activation of p38 MAPK by endothelin-1 was not affected by chronic ethanol exposure. These data demonstrate that chronic ethanol feeding suppresses endothelin-1-stimulated glucose uptake and suggest that decreased expression of Galpha11 coupled to impaired endothelin-1-dependent activation of PYK2 contributes to this response.