[An analysis of essential health research in Chile]. / Reflexiones sobre la investigación esencial en Chile.

Essential research studies of health problems affecting the majority of the population, aiming at actions that are feasible to be taken, efficiently and effectively implementing there and seeking solutions to unsolved problems. This is a complex process, which requires long lasting participation and coordinated interaction between different relevant sectors, namely the academic world, health policymakers and health-related industries. An analysis of essential health research in Chile is presented, considering factors such as shared efforts between the academic and health care sectors and the role of the Ministry of Health in research promotion. The following suggestions are made: 1) The Ministry of Health, along with universities, should stimulate, guide and monitor research activities that enrich and update the work on priority health issues; 2) To strengthen the capacity building of clinical or public health specialists by training them in applied research within medical centers, mainly teaching centers; 3) To assess the performance of National Fund for Health Research and Development (FONIS) and, if necessary, increase its resources to stimulate applied research in health; 4) To establish priorities for essential research, more specific than those proposed in 2010; 5) To reactivate the National Council for Health Research (CONIS) as an autonomous entity that coordinates applied research within the Ministry of Health.

Reflexiones sobre la investigación esencial en Chile

Essential research studies of health problems affecting the majority of the population, aiming at actions that are feasible to be taken, efficiently and effectively implementing there and seeking solutions to unsolved problems. This is a complex process, which requires long lasting participation and coordinated interaction between different relevant sectors, namely the academic world, health policymakers and health-related industries. An analysis of essential health research in Chile is presented, considering factors such as shared efforts between the academic and health care sectors and the role of the Ministry of Health in research promotion. The following suggestions are made: 1) The Ministry of Health, along with universities, should stimulate, guide and monitor research activities that enrich and update the work on priority health issues; 2) To strengthen the capacity building of clinical or public health specialists by training them in applied research within medical centers, mainly teaching centers; 3) To assess the performance of National Fund for Health Research and Development (FONIS) and, if necessary, increase its resources to stimulate applied research in health; 4) To establish priorities for essential research, more specific than those proposed in 2010; 5) To reactivate the National Council for Health Research (CONIS) as an autonomous entity that coordinates applied research within the Ministry of Health.

[Porphyria and pregnancy. Review of 17 women]. / Porfiria y embarazo.

BACKGROUND: Hormonal changes, prolonged fasting due to vomiting and some medications used during pregnancy, may cause an acute crisis of porphyria, sometimes unveiling a latent disease. Porphyria may also affect the evolution of pregnancy. AIM: To study the reciprocal influence in the evolution of both pregnancy and porphyria. MATERIAL AND METHODS: Retrospective review of medical records of women with porphyria followed by the authors. If additional information was required, an additional visit to the clinic was scheduled. The characteristics of pregnancy, delivery and the newborn were analyzed. RESULTS: Information about 60 pregnancies in 17 women aged 18 to 43 years was gathered. Among women with acute porphyria, one with coproporphyria had four pregnancies, nine with variegate porphyria had a total of 34 pregnancies and two with acute intermittent porphyria had six pregnancies. Five women with porphyria cutánea had a total of 16 pregnancies. Influence of porphyria in pregnancy: Compared to the general population, no differences were observed in birth weight of newborns, frequency of gestational hypertension, term or preterm deliveries of live newborns, spontaneous abortions nor in tubal pregnancies; there was a high frequency of hyperemesis gravidarum. Influence of pregnancy in porphyria: 5 of the 12 patients with acute porphyria, had an acute porphyria crisis, 3 during the puerperal period and 2 during pregnancy (42% of women, 11% of pregnancies). All these crisis were associated to the administration of medications. All patients survived. Two of these women had six ulterior pregnancies without complications. CONCLUSIONS: Women with porphyria that become pregnant have a higher frequency of hyperemesis gravidarum. Crises among women with acute porphyrias, were always associated with the use of potentially dangerous medications.

Porfiria y embarazo / Porphyria and pregnancy. Review of 17 women

Hormonal changes, prolonged fasting due to vomiting and some medications used during pregnancy, may cause an acute crisis of porphyria, sometimes unveiling a latent disease. Porphyria may also affect the evolution of pregnancy. Aim: To study the reciprocal influence in the evolution of both pregnancy and porphyria. Material and methods: Retrospective review of medical records of women with porphyria followed by the authors. If additional information was required, an additional visit to the clinic was scheduled. The characteristics of pregnancy, delivery and the newborn were analyzed. Results: Information about 60 pregnancies in 17 women aged 18 to 43 years was gathered. Among women with acute porphyria, one with coproporphyria had four pregnancies, nine with variegate porphyria had a total of 34 pregnancies and two with acute intermittent porphyria had six pregnancies. Five women with porphyria cutánea had a total of 16 pregnancies. Influence of porphyria in pregnancy: Compared to the general population, no differences were observed in birth weight of newborns, frequency of gestational hypertension, term or preterm deliveries of live newbornss, spontaneous abortions nor in tubal pregnancies; there was a high frequency of hyperemesis gravidarum. Influence of pregnancy in porphyria: 5 of the 12 patients with acute porphyria, had an acute porphyria crisis, 3 during the puerperal period and 2 during pregnancy (42 percent of women, 11 percent of pregnancies). All these crisis were associated to the administration of medications. All patients survived. Two of these women had six ulterior pregnancies without complications. Conclusions: Women with porphyria that become pregnant have a higher frequency of hyperemesis gravidarum. Crises among women with acute porphyrias, were always associated with the use of potentially dangerous medications.

Las Porfirias / The Porphyrias

Las porfirias son un conjunto de enfermedades –genéticas (monogenicas) o adquiridas debidas a disminución de la actividad de al menos una de las enzimas que participan en la vía de síntesis del grupo hem. Según sea la o las enzimas defectuosas, se genera una enfermedad con un patrón típico de alteraciones en la circulación, excreción y acumulación tisular de porfirinas o sus precursores, produciendo manifestaciones clínicas características para cada variedad. Se han diagnosticado en animales y en hombres de todas las razas y áreas geográficas. Se reconocen diversas variedades: la aguda intermitente particularmente frecuente en Suecia, la variegata común en la población blanca de Sudáfrica, la coproporfiria, la porfiria de Dõss de la que se han descrito unos pocos casos en el mundo, la eritropoyética congénita de muy baja prevalencia, la cutánea tarda que es lo mas frecuente de todas y que puede ser hereditaria o adquirida, en cuyo caso se relaciona con la hepatitis por virus C o B y VIH, por último la protoporfiria que suele expresarse muy tempranamente y ser causa de enfermedad hepática aguda grave que requiere trasplante hepático. En Chile hemos identificado la mayor parte de las variedades, existiendo tanto casos de origen europeo como de pueblos originarios. Los portadores de mutaciones genéticas pueden presentar una enfermedad clínicamente evidente o una asintomática o latente, en la que incluso puede no haber alteraciones metabólicas detectables. Los periodos sintomáticos y de latencia pueden alternarse, pero la mayoría de los enfermos tiene la enfermedad latente a lo largo de toda su vida. Las manifestaciones clínicas que se pueden observar en las porfirias son: crisis agudas, alteraciones cutáneas y diversas complicaciones tales como hepatopatias. Las primeras consisten en episodios, dramáticos por su gravedad, de alteraciones neurológicas, psíquicas, cardiovasculares, digestivas, urinarias y de compromiso del estado general que incluye hiponatremia.

Insuficiencia hepática aguda en amiloidosis hepática asociada a mieloma múltiple. Caso clínico / Acute liver failure in a patient with liver amyloidosis associated to multiple myeloma

We report a 67 years old woman admitted to the hospital for the study of a cholestatic jaundice and massive hepatomegaly. On admission, the patient did not have liver failure. During hospital stay, the patient experienced a progressive deterioration of liver function and a monoclonal gammopathy was detected. An IgG Kappa myeloma was diagnosed. A fine needle liver biopsy disclosed the presence of amyloid. The patient developed acute liver failure and died three weeks after admission (Rev Méd Chile 2003; 131: 1301-04).

[Acute Liver Failure in patient with liver amyloidosis associated to multiple myeloma]. / Insuficiencia hepática aguda en amiloidosis hepática asociada a mieloma múltiple. Caso clínico.

We report a 67 years old woman admitted to the hospital for the study of a cholestatic jaundice and massive hepatomegaly. On admission, the patient did not have liver failure. During hospital stay, the patient experienced a progressive deterioration of liver function and a monoclonal gammopathy was detected. An IgG Kappa myeloma-was diagnosed. A fine needle liver biopsy disclosed the presence of amyloid. The patient developed acute liver failure and died three weeks after admission.

Las múltiples implicancias de los controles de calidad en medicina / Multiple implications of the quality controls in medicine

Los procesos de acreditación o certificación tienen ventajas e inconvenientes y creo que hay convencimiento de que son más las primeras que los segundos. Entre las ventajas, las hay de índole técnico, ético, comercial y social y entre los inconvenientes los hay de índole económico, del consumo de tiempo que representan y de la resistencia que provocan los procesos de evaluación externa.

Las múltiples implicancias de los controles de calidad en medicina / Multiple implications of the quality controls in medicine

Los procesos de acreditación o certificación tienen ventajas e inconvenientes y creo que hay convencimiento de que son más las primeras que los segundos. Entre las ventajas, las hay de índole técnico, ético, comercial y social y entre los inconvenientes los hay de índole económico, del consumo de tiempo que representan y de la resistencia que provocan los procesos de evaluación externa. (AU)

Las sociedades médicas científicas de Chile se agrupan en una entidad común / The Chilean medical scientific societies form a common entity

A recent law project pretended to improve the number and distribution of clinical specialists throughout the country. Several Medical Scientific Societies felt that the diagnosis and the treatment proposed for the problem were erroneous. In Chile, there is no such lack of specialists but, unfortunately, they are badly distributed and any solution should include their better geographical distribution. This was the beginning of a common action by 30 Medical Scientific Societies, which realized that they have several problems in common, deciding to create an entity to face them: the Chilean Association of Medical Scientific Societies (ASOCIMED). This association was formed last August. In a few months of work it has studied its bylaws to be submitted for aproval to the Member Societies. Also it has started to study, together with the Ministry of Public Health, the needs, number and distribution of specialists in the country and important information should be gathered from this study. ASOCIMED is already representing Medical Scientific Societies in the National Corporation for Medical Certification (CONACEM), together with the National Academy of Medicine is creating a National Award of Medicine and with the Health Insurance Companies is studying a way to face high cost diseases. During its short existence, ASOCIMED has faced a diversity of different issues and it seems reasonable to believe that it will play an important role in Chilean Medicine

El virus C de la hepatitis y las enfermedades que produce / Hepatitis C virus and the diseases that it produces

In 1989, the main agent causing non A non B hepatitis was identified as a RNA virus of the flavivirus family, with several serotypes, and was denominated virus C. At the present moment, the knowledge about the infection features and diseases that it causes has expanded thanks to the availability of reliable laboratory techniques to detect the antibody and the virus. The prevalence of infection and the frequency of serotypes varies in different regions of the world. Chile is a country with a low prevalence. The detection of infected blood in blood banks has reduced the spreading of the disease. Other means of infection such as the use of intravenous drugs, hemodialysis and transplantation have acquired greater importance. Sexual, maternal and familial transmission is exceptional. Infected people develop an acute hepatitis, generally asymptomatic. Eighty percent remain with a chronic hepatic disease, that can be mild or progressive, evolving to cirrhosis or hepatic carcinoma. Chronic hepatitis, closely resembling an autoimmune disease, can be caused by the virus. Alcohol intake increases viral activity causing severe hepatic diseases, refractory to treatments. Several non hepatic diseases are associated to hepatitis C virus infection such as essential mixed cryoglobulinemia, mesangiocapillary glomerulonephritis, porphyria cutanea tarda, dysglobulinemias and probably type 2 diabetes mellitus. The only available treatment is interferon, that is successful in a minority of patients, frequently causing a transient improvement. The use of ribaravine associated to interferon improve the effectiveness of therapy. Liver transplantation is the only therapy for severe hepatic disease. The use of new antiviral drugs should improve the prognosis of the disease

Crisis porfirica: experiencia con 30 episodios / Porphyric crisis: Experience of 30 episodes

Se revisa la experiencia con 30 crisis porfíricas en 25 pacientes atendidos a partir de 1967. Veintiún pacientes tuvieron 1 crisis, tres presentaron 2 y uno 3 de estos episodios. En todos los enfermos el diagnóstico de porfiria se planteó en relación a una crisis, aunque muchos de ellos tenían antecedentes familiares y/o manifestaciones clínicas previas de la enfermedad. Hubo claro predominio (80 por ciento) de mujeres, pero ellas son, también, mayoría entre las porfirias agudas. Los síntomas más fecuentes fueron: dolor abdominal, taquicardia, orína obscura, trastornos neuropsíquicos e hipertensión arterial.El compromiso neurológico obligó al uso de respirador en 9 episodios (33 por ciento) que se mantuvo en 2 pacientes por 4 meses. En 6 crisis (20 por ciento) no hubo manifestaciones neurológicas. Entre los exámenes de laboratorio destacó la hiponatremia por su frecuencia (53.4 por ciento) e intensidad. Se observó elevación del portobilinógeno urinario, requisito para el diagnóstico, entre 15 y 130 veces el valor normal. Las complicaciones sépticas, como neumonía, septicemia e infección urinaria, fueron frecuentes (50 por ciento). Factores sospechosos de haber desencadenado episodios de crisis, fueron: drogas, habitualmente más de 2, en el 50 por ciento de los casos; embarazo en el 30 por ciento de las mujeres y, en menor proporción, ejercícios intensos e intervenciones quirúrgicas. En 10 pacientes no se identificaron o informaron factores desencadenantes de crisis. No es claro el rol del embarazo, parto o puerperio en producir crisis, por cuanto las pacientes que presentaron crisis relacionadas con ellos tuvieron otros 15 embarazos sin incidentes. Además, en el embarazo que se acompañó de crisis siempre estuvo presente una o más drogas potencialmente desencadenantes. La primera medida terapéutica empleada fue la administración, oral o endovenosa, de sobrecarga de hidratos de carbono y, si no hubo respuesta, se indicó infusión endovenosa de Hematina. Cuatro (13.3 por ciento) pacientes fallecieron aunque recibieron Hematina, pero ésta fue administrada tardiamente por demora en el diagnóstico. En los pacientes que sobrevivieron no hubo secuelas orgánicas de ningún tipo.