Hipertrigliceridemias de origen genético / Hypertriglyceridemias of genetic origen

Hypertriglyceridemia (HTG) is defined as plasma triglycerides (TG) > 150 mg/dL, and it is a frequent disease in the general population. When plasma TG reach concentrations > 500 mg/dL (severe HTG), there is usually a genetic defect involved. This defect can involve a single gene or be of polygenic inheritance. In polygenic HTG, the phenotypic expression of the disease is usually associated to the presence of certain diseases such as diabetes, obesity or insulin resistance. The most common known genes associated with monogenic hypertriglyceridemia are LPL and APOC2, but in recent years a few cases caused by mutant APOA5, GPIHBP1 and LMF1, have been identified. Furthermore, genome wide association studies (GWA) have brought up new genes that are related to discrete changes in triglyceride plasma levels of the general population. Among them, it is worth mentioning GCKR, TRIB1, MLXIPL, GALNT2, APOB, APOC2, APOA5, APOE, LPL, ANGPTL3 and NCAN. It is remarkable that most severe hypertriglyceridemias are of polygenic origin, and they could involve a major susceptibility gene. Only in a few cases of severe or very severe HTG (TG > 2.000 mg/dL) the genetic cause is known.

Evaluación de 1497 adultos mayores institucionalizados, usando el sistema de clasificación de pacientes RUG T-18 / Assessment of 1497 Chilean nursing home residents, using the Resource Utilization Group method, RUG T-18

Background: There is little information about Chilean elderly residents of long term care facilities, regarding their characteristics and need for resources. Aim: To describe main characteristics and resource utilization of residents of one of the largest nursing homes in Chile, Fundación Las Rosas de Ayuda Fraterna. Material and Methods: In a cross sectional and descriptive study, all residents were evaluated using the RUG T-18 method, that assess activities of daily living and the complexity of their clinical situation. Results: We assessed 1497 subjects 60 years old and over (73 percent women), with an age range of 60-106 years. Thirty six percent had urinary incontinence, 19 percent required assistance for feeding, and 38 percent needed help for walking or moving. Fifty seven percent were in the lowest category of complexity, ½Institutionalization¼. Very few residents were in the most demanding categories, no one classified as ½Rehabilitation¼, and only 0.7 percent were in ½Special Care¼. Conclusions: This study is an important start point to learn more about elderly subjects living in nursing homes in Chile (Rev Méd Chile 2004; 132: 701-6).