[Contribution of Chilean research to the formulation of national clinical guidelines]. / ¿Se sustentan las Guías GES en trabajos científicos financiados por los fondos de CONICYT?

BACKGROUND: In Chile, 80 diseases were included in a health care system called Health Care Guarantees (GES) and clinical guidelines were elaborated for their management. AIM: To assess the scientific background of guidelines and if they were based on research financed by the Chilean National Commission for Science and Technology. MATERIAL AND METHODS: The references of the 82 guidelines developed for 80 diseases were reviewed, registering their number, authors, country of origin and funding source. RESULTS: The guidelines had a total of 6,604 references. Of these, only 185 were Chilean (2.8%) and five (0.08%) originated from research financed by the National Commission for Science and Technology. CONCLUSIONS: The contribution of research funded by national agencies to the formulation of clinical guidelines is minimal.

[Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. / Mutaciones del gen de la hemocromatosis en donantes de sangre voluntarios y en pacientes con porfiria cutánea tarda en Chile.

In patients with porphyria cutanea tarda (PCT), hepatic iron accumulation associated to hereditary hemochromatosis (HH) could play a role in the etiology and in the clinical expression of the disease. The H63D and C282Y mutations of the HFE gene frequency were studied in a PCT group of patients and compared with the frequency observed in a group of volunteer blood donors. PCT patients were cataloged as hereditary or acquired PCT carriers, whether or not they presented uroporphyrinogen decarboxilase gene mutations. Fifty percent of PCT patients were carriers of the disease's genetic type. Such percentage is significantly higher than what other authors have previously informed. H63D and C282Y mutations were present in 23% and 2.4% of the volunteer blood donors, respectively. Similar frequencies were informed by others authors in Chilean white ethnic populations, and also in Spaniard and Argentinean populations, but significantly higher than that observed in Chile's Araucanean aboriginal population. Probably the frequency of H63D and C283Y mutations are related to the Spaniard ascendancy dominance of Chile's white ethnic population. The frequency of HFE gene mutations in PCT patients was not different than what was observed in volunteer blood donors. Similarly, there was no statistical difference in the frequency of these mutations among patients with acquired or genetic PCT disease. With the obtained results, it is not possible postulate an association between PCT and the hereditary hemochromatosis of HFE gene mutations carrier conditions.