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

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.

Principales características de la investigación biomédica actual, en Chile / Main characteristics of current biomedical research, in Chile

Background: Biomedical research is a fundamental tool for the development of a country, requiring human and financial resources. Aim: To define some current characteristics of biomedical research, in Chile. Methods: Data on entities funding bio-medical research, participant institutions, and the number of active investigators for the period 2007-2009 were obtained from institutional sources; publications indexed in PubMedfor2008-2009 were analysed. Results: Mostfinancial resources invested in biomedical research projects (approximately US$ 19 million per year) came from the "Comisión Nacional de Investigación Científica y Tecnológica" (CONICYT), a state institution with 3 independent Funds administering competitive grant applications open annually to institutional or independent investigators in Chile. Other sources and universities raised the total amount to US$ 26 million. Since 2007 to 2009, 408 investigators participated in projects funded by CONICYT. The main participant institutions were Universidad de Chile and Pontificia Universidad Católica de Chile, both adding up to 84% of all funded projects. Independently, in 2009,160 research projects -mainly multi centric clinical trials- received approximately US$ 24 million from foreign pharmaceutical companies. Publications listed in PubMed were classified as "clinical research" (n = 879, including public health) or "basic biomedical research" (n = 312). Conclusions: Biomedical research in Chile is mainly supported by state funds and university resources, but clinical trials also obtained an almost equivalent amount from foreign resources. Investigators are predominantly located in two universities. A small number of MD-PhD programs are aimed to train and incorporate new scientists. Only a few new Medical Schools participate in biomedical research. A National Registry of biomedical research projects, including the clinical trials, is required among other initiatives to stimulate research in biomedical sciences in Chile.

Definición actual de la medicina interna y el internista / A consensus definition of internal medicine and the internist

Internal Medicine is a basic clinical specialty in Medicine, but due to it’s vast field of action it is quite difficult to define. This consensus article analyzes different definitions and proposes a current definition while analyzing several aspects of the specialty along with its strengths and weaknesses. We propose to define Internal Medicine as a clinical specialty devoted to the comprehensive care of adults, from adolescence to senility, particularly the diagnosis and non surgical treatment as well as primary and secondary prevention of their diseases, in hospital or ambulatory settings. We propose to define Internal Medicine as a clinical specialty devoted to the comprehensive care of adults in hospital or ambulatory settings, from adolescence to end of life, in terms of prevention, diagnosis and non-surgical treatments of disease.

Ictericia obstructiva secundaria a migración de fragmentos de hepatocarcinoma a la vía biliar / Obstructive jaundice secondary to hepatocellular carcinoma fragments migrated to common bile duct

Obstructive j aundice is a rare presentation of hepatocellular carcinoma (HC), and when it occurs, usually is due to progressive damage from cirrhosis, or extensive tumor infiltration. Tumor growth through the bile duct is being described with increasing frequency as a cause of obstructive j aundice. Rarely, it may be hepatocarcinoma fragments that migrate to the bile duct, obstructing it. We present a case of obstructive jaundice due to migration of fragments of hepatocellular carcinoma to the bile duct in a patient treated 7 years before, for an HC with a curative resection.

La ictericia obstructiva es una presentación poco común en un hepatocarcinoma (HC). Cuando en estos casos existe ictericia, habitualmente se debe a daño progresivo por cirrosis, o a infiltración tumoral extensa. El crecimiento o vaciamiento tumoral hacia la vía biliar se ha descrito ocasionalmente como causa de ictericia obstructiva. En raras ocasiones, puede tratarse de fragmentos de hepatocarcinoma que migran hacia la vía biliar, obstruyéndola. Presentamos un caso de ictericia obstructiva por migración de fragmentos de hepatocarcinoma a la vía biliar, en un paciente tratado 7 años antes por un HC, con resección curativa.

Proceso para priorizar las líneas de investigación esencial de interés para el Ministerio de Salud de Chile / Definition of priorities in health research for the Ministry of Health

Health research oriented to solve the most relevant sanitary problems in Chile must be encouraged. In 2001, the National Health Research Fund (FONIS) was created by the National Research Council of the Ministry of Health and the National Scientifc Research Commission, to stimulate relevant health research that contributes to develop health care policies. In 2008 an experts meeting proposed eighty research areas. These areas were grouped in twelve thematic containers. Each of these containers were classifed as having maximal, intermediate or minimal priority. The seven most important containers were grouped in three areas. Among the latter, two were selected. One is evaluation of the Ministry programs and, within this area, with the following priorities in decreasing importance: primary prevention, health care priorities, and diseases included in the Explicit Guarantees plan. The second area corresponds to diseases with high prevalence, incidence, costs or impact, including the following priorities in diminishing importance: mental health, diseases of high prevalence and problems with social impact.

Consenso elaborado por la Sociedad Chilena de Endocrinología y Diabetes sobre resistencia a la insulina(RI) y síndrome metabólico (SM): aspectos clínicos y terapéuticos / Chilean society of endocrinology and diabetes consensus on clinical and therapeutic aspects of insulin resistance and metabolic syndrome

Background: The concept insulin resistance as the basis for a series of metabolic alterations and diseases was introduced by Gerald Reaven in 1988, when he described a cluster of alterations that named syndrome X. Aim: To review and discuss the present information about insulin resistance (IR) and metabolic syndrome (MS). Material and methods: The IR concept is defined,the affected metabolic ways, its consequences and relationship with different diseases are presented. The importance of central obesity with its metabolic, inflammatory and prothrombotic consequences playing a key role in cardiovascular risk, is discussed. The cluster of factors focused on cardiovascular disease and eventually diabetes is named MS. Several definitions of MS are analyzed and compared. A proposition is made about the definition to be used in the Chilean population. Differences between IR syndrome and MS are discussed. Diagnostic methods of IR and MS are presented, recommendations are made about their usefulness and reliability. Non pharmacological and pharmacological treatments of IR and MS are analyzed. Other related diseases, such as polycystic ovary syndrome, non alcoholic steatohepatitis and sleep apnea are discussed. Conclusions. Until further studies are made to define a local waist circumference cut-off associated with high risk, the ATPIII MS definition is preferred. A clinical approach is recommended for diagnosis. A search for all components of the MS is important. There is no evidence about the benefits of MS treatment on the prevention of cardiovascular diseases or diabetes. Evidence supports the use of lifestyle changes and some drugs, such as metformin on the prevention of diabetes in prediabetic states.

Diagnóstico y tratamiento de las várices esófago gástricas en Chile: realidad nacional / Management of bleeding esophageal varices in public and private institutions in Chile

Background: The better treatment modalities for bleeding esophageal varices have improved the prognosis of cirrhosis. Aim: To inquire about diagnostic and treatment modalities for esophageal bleeding in Chile. Material and methods: An enquiry about diagnosis and treatment of esophageal bleeding was designed and electronically sent to public and private health institutions that could admit patients and were located in cides with more than 100,000 inhabitants. Results: The enquiry was answered by 31 of 35 public and 17 of 19 private health institutionis that were consulted. Emergency endoscopy was available in 6 of 27 public and in the 16 private institutionis that had an emergency room. Rubber band ligation was available in 16 public (52 percent) and in all private institutions. Cyanoacrylate injections were done in 10 public (32 percent) and 11 (65 percent) private institutions. No public institution installed transjugular intrahepatic portosystemic shunts, but 8 had occasional access to this technique. This procedure was done in 7 (41 percent) private institutions and all had access to it. Surgical treatment was feasible in 20 public (65 percent) and all private institutions. Primary prophylaxis was done in 18 public (58 percent) and 14 private (82 percent) institutions. Secondary prophylaxis was carried out in 26 public (84 percent) and 16 private (94 percent) institutions. Conclusions: Public health institutions have poor access to adequate diagnostic and treatment methods for esophageal bleeding. The primary and secondary prophylaxis of esophageal varices must be improved in both types of institutions.

Bacteriemia primaria por Listeria monocytogenes en paciente con cirrosis hepática: Caso clínico / Primary Listeria monocytogenes infection in a cirrhotic woman: Report of one case

L. monocytogenes infections are infrequent. Sepsis in pregnant women and newborns and central nervous system infections in the elderly are the most common clinical manifestations. We report a 61 years old woman with diabetes Mellitus and a Child B hepatic cirrhosis, admitted for persistent fever. Blood cultures were positive for Listeria monocytogenes. Cerebrospinal fluid was normal and sterile. She was treated with ampicillin and amikacin with a good response. Control blood cultures were negative. She was discharged 14 days after in good conditions.

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

La acumulación de hierro hepático asociada a mutaciones en el gen HFE de la hemocromatosis hereditaria (HH) en los pacientes con porfiria cutánea tarda (PCT) podría tener un papel en la etiología y en la expresión clínica de esta enfermedad. Se estudió la frecuencia de las mutaciones H63D y C282Y en un grupo de pacientes con PCT y se la comparó con la observada en un grupo de donantes voluntarios desangre. Los pacientes con PCT fueron catalogados como portadores de la forma hereditaria o adquirida de laenfermedad, según presentaran o no mutaciones en el gen uroporfirinógeno decarboxilasa (UROD). El 50% delos pacientes con PCT eran portadores de la forma genética de la enfermedad, porcentaje significativamentemayor que lo informado en otras series. El 23% de los donantes voluntarios de sangre eran portadores de lamutación H63D y 2.4% lo era de la mutación C282Y. Frecuencias similares a lo encontrado por otros autoresen población chilena de etnia blanca, en población argentina y española, pero significativamente más alta quelo encontrado en estudios en población aborigen araucana. Esto tiene, probablemente, relación con el predominio de ascendencia española en la población blanca chilena. La frecuencia de mutación en el gen HFE en pacientes con PCT no fue significativamente diferente que la observada en donantes voluntarios de sangre. Tampoco hubo diferencias significativas en la frecuencia de estas mutaciones entre los casos con PCT adquirida respecto de aquellos en que ésta era de origen genético. Los resultados obtenidos no permiten afirmar que exista asociación entre la PCT y la condición de portador de mutaciones del gen HFE de la hemocromatosis hereditaria

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 significantlyhigher than what other authors have previously informed. H63D and C282Y mutations were present in23% 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 higherthan 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

Medicamentos según riesgo de desencadenar crisis en pacientes con porfirias agudas / Drugs according to risk of to unchain crisis in patients with acute porphyries

Las variedades agudas de porfirias suelen presentar episodios conocidos como crisis agudas, que pueden ser muy graves y aún fatales. La causa desencadenante más frecuente de estas crisis es el consumo de ciertos medicamentos. Así como algunos fármacos están identificados como productores de estas crisis, otros no tienen ese riesgo. Se puede así distinguir medicamentos sin peligro o "seguros", otros que conllevan el riesgo de desencadenar crisis o "no seguros" y otros en que la información es contradictoria. Esta publicación tiene por objeto facilitar, tanto a pacientes como a médicos tratantes, el listado de principios activos, incluyendo los fármacos que los contienen, ordenados según sean "seguros", "no seguros" y con "información contradictoria" y clasificados según acción farmacológica. A fin de facilitar aún más la selección de medicamentos a usar, se incorpora una segunda lista de productos farmacéuticos que se expenden en el mercado chileno, ordenados también según su riesgo de producir crisis agudas. El mercado de medicamentos es muy dinámico, constantemente están incorporándose nuevos y retirando otros que se dejan de usar, por lo que nuestra Unidad mantiene actualizadas estas listas en nuestra página Web (http://porfiria.med.uchile.cl)