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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.

Assuntos

RESUMO

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.

RESUMO

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.

Assuntos

RESUMO

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.

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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.

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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).

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RESUMO

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.

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