Anemia diseritropoyética congénita tipo I: una mirada actualizada de sus bases moleculares, diagnóstico y tratamiento / Congenital dyserythropoietic anemia type I: an updated review about its molecular bases, diagnosis and treatment

Introducción: Las anemias diseritropoyéticas congénitas constituyen un grupo de trastornos hereditarios caracterizados por anemia refractaria, eritropoyesis ineficaz y alteraciones morfológicas de los eritroblastos. La anemia diseritropoyética congénita tipo I es la más frecuente, no obstante, constituye una rara enfermedad con particularidades morfológicas y moleculares. Objetivo: Analizar los aspectos más novedosos en cuanto a la patogenia molecular, el diagnóstico genético y el tratamiento de la anemia diseritropoyética congénita tipo I. Métodos: Se realizó una revisión de la literatura, en inglés y español. Se utilizaron motores de búsqueda como Google académico y Pubmed que permitió el acceso a artículos actualizados del tema. Se hizo un análisis y resumen de la bibliografía revisada. Análisis y síntesis de la información: La anemia diseritropoyética congénita tipo I es una enfermedad hereditaria autosómica recesiva. Se caracteriza por anemia de grado variable, reticulocitopenia, alteraciones morfológicas de la serie roja en la lámina periférica y un número elevado de eritroblastos binucleados conectados por puentes internucleares en el aspirado de médula ósea. Se han identificado múltiples alteraciones moleculares que involucran fundamentalmente a los genes CDAN1 y C15orf41. Las proteínas codificadas por estos genes participan en proceso vitales como el ciclo celular, la reparación del ADN y la transcripción de ARN. Conclusiones: El estudio de las bases moleculares de la anemia diseritropoyética congénita tipo I ha cambiado la perspectiva en el diagnóstico de esta enfermedad. Los protocolos de tratamiento son similares a otras anemias hemolíticas hereditarias aunque se destaca el uso del Interferón-α(AU)

Introduction: Congenital dyserythropoietic anemias belong to a group of hereditary disorders characterized by refractory anemia, ineffective erythropoiesis and morphological alterations of erythroblasts. Congenital dyserythropoietic anemia type I is the most frequent; however, it is a rare disease with morphological and molecular characteristics. Objective: To analyze the most updated aspects regarding molecular pathogenesis, genetic diagnosis and treatment of congenital dyserythropoietic anemia type I. Methods: A review of the literature in English and Spanish was carried out. Search engines such as Google Scholar and Pubmed were used, which allowed access to updated articles on the subject. An analysis and summary of the revised bibliography was carried out. Information analysis and synthesis: Congenital dyserythropoietic anemia type I is an autosomal recessive hereditary disease. It is characterized by anemia of variable degree, reticulocytopenia, morphological alterations of the red series in the peripheral lamina, and high number of binucleated erythroblasts connected by internuclear bridges in the bone marrow aspirate. Multiple molecular alterations have been identified, mainly involving the CDAN1 and C15orf41 genes. The proteins encoded by these genes participate in vital processes, such as the cell cycle, DNA repair, and RNA transcription. Conclusions: The study of the molecular bases of congenital dyserythropoietic anemia type I has changed the perspective concerning the diagnosis of this disease. Treatment protocols are similar to other hereditary hemolytic anemias, although the use of Interferon-α stands out(AU)

[Controversial and so-called alternative therapeutic approaches]. / Umstrittene und sogenannte ausserschulische Therapieansätze.

In spite of intensive research, it has not yet been possible to produce a complete explanation of the aetiology and pathology of rheumatoid arthritis (R.A.). Therapeutic measures are possible in many phases of the pathogenetic concept, and often produce good, modifying results, improving the course of the disease. No causal therapy of R.A. exists--we do not know the aetiology of this disease. Frustration with conventional medicine on the one side, and the predominating spirit of the times on the other--back to biological methods and the old forms of therapy--are the reasons why chronic polyarthritics drift into the sphere of para-medicine. In the judgement of para-medical methods, "risk/benefit relationship", "superfluous and no longer up-to-date", "controversial--absence of scientific evidence", "controversial", and "controversial--not scientifically acceptable" present some of the decision criteria. Treatment with mussel extracts, beta-sitosterins, THX, and substitution with various substances, as well as anthroposophically-oriented high-potency homeopathy, are to be allocated to the "controversial--not scientifically acceptable" category. If one weighs up the "risk/benefit relationship" of cell therapy, this treatment concept also cannot be supported. Moreover, precisely documented scientific results of this form of therapy do not exist. Methods standing on scientifically-hypothetically interesting ground, but which were tested on too small a group and cannot yet be accepted as sufficiently proven, are therapy with Vitamin E, the use of Thymopoietin, in which, for example, dose-finding and mode of application are not yet firmly established, and therapy with enzyme mixtures. Interferon results, initially extolled in the lay press, have not been confirmed in the most recent studies. Thymopoietin treatments, via the laborious road to the correct application (oral, subcutaneous, intramuscular, intravenous as bolus, intravenous--fractionated), show encouraging successes. As tissue-localized immune complexes (which sort?) play a role in the pathogenesis of R.A., but enzyme mixtures, apart from the problems of absorption, only influence circulating immune complexes, and moreover, in many diseases neither the aetiology nor the pathogenesis is connected with the immune complexes, this therapy concept can be regarded neither as causal nor as scientifically guaranteed. In summary: from the start-point that healing is the ideal aim, it has been forgotten that there are many human sufferings which medicine can ease and ameliorate, but not yet cure.(ABSTRACT TRUNCATED AT 400 WORDS)

Comparative evaluation of hepatitis C virus RNA quantitation by branched DNA, NASBA, and monitor assays.

Several studies have shown a relationship between pretreatment hepatitis C virus (HCV) viral load and the response to interferon (IFN) therapy, creating a need for quantitative HCV-RNA assays. Here, we compared three commercial methods: nucleic acid sequence-based amplification NASBA (Organon), branched DNA 2.0 (bDNA) (Chiron), and Monitor (Roche), with reverse-transcription polymerase chain reaction (RT-PCR) as the reference. We assessed sensitivity and reproducibility on a well-characterized panel of sera (EUROHEP), a Chimp Rodney plasma pool, and samples from IFN-treated and -untreated patients with chronic hepatitis C caused by different HCV genotypes. The reproducibility of the NASBA and bDNA methods was slightly better than that of Monitor, especially for genotypes 2 and 4. NASBA had the highest sensitivity (99% vs. 94% and 88% with Monitor and bDNA, respectively), especially for the follow-up of patients on IFN. NASBA gave the highest HCV-RNA concentrations, which were approximately 10-fold more than with the bDNA assay and 100-fold more than with the Monitor kit. The linearity, tested on the chimp Rodney plasma pool, was better with bDNA for high viral load than with NASBA and Monitor, although for low concentration of HCV RNA, bDNA was negative. Pretreatment viral load was lower in patients who had a sustained virological response to IFN, although the bDNA method was not sensitive enough to quantify all pretreatment samples. This study indicates that gene amplification methods (NASBA or Monitor) have better sensitivity than bDNA assays for quantification of HCV RNA in patients with chronic HCV infection, although the bDNA and NASBA methods are more likely to quantify all genotypes. Prospective studies are needed to demonstrate the usefulness of quantitative assays for the follow-up of patients with chronic hepatitis C.

Interferon dinamizado en un caso clinico de uveitis no granulomatosa / Dinamized interferon in a case of non granulamatosis uveitis

Se presenta un caso clinico de patologia oftalmologica-uveitis no granulomatosa- tratado previamente con farmacologia clasica y con diversos farmacos homeopaticos; con constantes recidivas de los sintomas visuales y oculares (lapso de dos anos), con el consecuente deterioro en la vision y elementos anatomicos de ambos ojos - sinequias posteriores del iris al cristalino. El estudio de farmacologia clinica homeopatica se fundamento en las pruebas inmunologicas realizadas en laboratorios especializados sobre los efectos de las dosis sebiles de inmunoduladores como suero timico e interferon.

Interferon dinamizado en un caso clinico de uveitis no granulomatosa / Dinamized interferon in a case of non granulamatosis uveitis

Se presenta un caso clinico de patologia oftalmologica-uveitis no granulomatosa- tratado previamente con farmacologia clasica y con diversos farmacos homeopaticos; con constantes recidivas de los sintomas visuales y oculares (lapso de dos anos), con el consecuente deterioro en la vision y elementos anatomicos de ambos ojos - sinequias posteriores del iris al cristalino. El estudio de farmacologia clinica homeopatica se fundamento en las pruebas inmunologicas realizadas en laboratorios especializados sobre los efectos de las dosis sebiles de inmunoduladores como suero timico e interferon. (AU)