RESUMO
Previo a 1992, había riesgo de contaminación por los hemoderivados. La vacunación obligatoria y el tratamiento de los liofilizados han descendido la posibilidad de infección. Se debe tamizar a todos los pacientes que se expusieron a infección con hemoderivados no tratados y vacunar a todos los niños, prefiriendo vacunas subcutáneas.
Before 1992, there was a risk of contamination for blood products. The obligatory vaccination and lyophilized treatment have decreased the possibility of infection. All patients being exposed to non-treated blood products infection must be sieved and all children must be vaccinated, preferably with subcutaneous vaccines.
Assuntos
Hemofilia A/diagnóstico , Vírus da Hepatite B/efeitos dos fármacosRESUMO
The Committee of Latin America on the Therapeutics of Inhibitor Groups (CLOTTING) is composed of a number of hemophilia specialists from Latin America. The group aims to encourage the adoption of a good standard of care for Latin American patients with hemophilia. The occurrence of inhibitors in patients with hemophilia poses clinical challenges, and it is estimated that between 1000 and 3 000 patients in Latin America are affected by hemophilia with inhibitors. There is an urgent need to establish a regional consensus and clinical guidelines for the diagnosis and treatment of these patients. We present an extensive review based on best current clinical practice and published literature, as seen from a Latin American perspective, taking into account the variable nature of hemophilia care available in the various countries in this Region.
El Comité Latinoamericano sobre la Terapéutica de Personas con Inhibidores (CLOTTING) está compuesto por un grupo de especialistas en hemofilia de Latinoamérica. El objetivo del grupo es promover la adopción de un estándar de tratamiento óptimo para los pacientes con hemofilia en Latinoamérica. La prevalencia de inhibidores en pacientes con hemofilia en Latinoamérica determina desafíos clínicos y se estima que de 1000 a 3000 pacientes en esta región están afectados con hemofilia e inhibidores. Existe una necesidad urgente de establecer un consenso regional y guías clínicas para el diagnóstico y tratamiento de estos pacientes. Nosotros presentamos una revisión exhaustiva basada en las mejores prácticas clínicas vigentes y en los datos publicados en la literatura, con una perspectiva latinoamericana, tomando en cuenta la variabilidad existente de los tratamientos de la hemofilia disponibles en los diferentes países de esta Región.
Assuntos
Adulto , Criança , Humanos , Coagulantes/administração & dosagem , Fator IX/administração & dosagem , Fator VIII/administração & dosagem , Hemofilia A/tratamento farmacológico , Hemofilia B/tratamento farmacológico , Fatores de Coagulação Sanguínea/administração & dosagem , Relação Dose-Resposta a Droga , Esquema de Medicação , Quimioterapia Combinada , Hemofilia A/classificação , Hemofilia A/diagnóstico , Hemofilia B/classificação , Hemofilia B/diagnóstico , América Latina , Guias de Prática Clínica como Assunto , Índice de Gravidade de DoençaRESUMO
Hemophilia A and B are X-chromosome linked bleeding disorders caused by deficiency of the respective coagulation factor VIII and IX. Affected individuals develop a variable phenotype of hemorrhage caused by a broad range of mutations within the Factor VIII or Factor IX gene. Here, were report the results of the molecular diagnosis in a five Costa Rican families affected with Hemophilia. Methods of indirect and direct molecular diagnosis are applied in three Hemophilia A and two Hemophilia B families from Costa Rica as well as preconditions, practicability and facilities of this diagnosis. In two families with Hemophilia A and both families with Hemophilia B the causative mutation could be detected by Southern blotting, polymerase chain reaction or sequence analysis. One Hemophilia A family could only analyzed by linkage analysis using genomic markers.
Assuntos
Humanos , Masculino , Feminino , Fator IX/genética , Fator VIII/genética , Hemofilia A/diagnóstico , Hemofilia B/diagnóstico , Mutação/genética , Costa Rica , Hemofilia A/genética , Hemofilia B/genética , Linhagem , Marcadores Genéticos , Reação em Cadeia da Polimerase , Southern BlottingRESUMO
Hemophilia A and B are X-chromosome linked bleeding disorders caused by deficiency of the respective coagulation factor VIII and IX. Affected individuals develop a variable phenotype of hemorrhage caused by a broad range of mutations within the Factor VIII or Factor IX gene. Here, were report the results of the molecular diagnosis in a five Costa Rican families affected with Hemophilia. Methods of indirect and direct molecular diagnosis are applied in three Hemophilia A and two Hemophilia B families from Costa Rica as well as preconditions, practicability and facilities of this diagnosis. In two families with Hemophilia A and both families with Hemophilia B the causative mutation could be detected by Southern blotting, polymerase chain reaction or sequence analysis. One Hemophilia A family could only analyzed by linkage analysis using genomic markers.
Assuntos
Fator IX/genética , Fator VIII/genética , Hemofilia A/diagnóstico , Hemofilia B/diagnóstico , Mutação/genética , Southern Blotting , Costa Rica , Feminino , Marcadores Genéticos , Hemofilia A/genética , Hemofilia B/genética , Humanos , Masculino , Linhagem , Reação em Cadeia da PolimeraseRESUMO
Chromosome analyses were performed on bone marrow and peripheral blood leucocytes of 117 patients with acute and chronic leukemias and myelodysplastic, myeloproliferative and hypereosinophilic syndromes, diagnosed in a Costa Rican hospital from May 1990 to July 1992. Cytogenetic diagnosis was achieved in 69.5 per cent of the 131 samples, the karyotype was normal in half of them. The most common chromosomal defect was the Philadelphia translocation, found in 80.5 per cent of the patients with chronic myelocitic leukemia as referral diagnosis and in some other cases. Other primary and secondary chromosomal abnnormalities were less frequent. The karotype analysis proved useful in clinical evaluation and management.
Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Adolescente , Adulto , Pessoa de Meia-Idade , Leucemia/genética , Bandeamento Cromossômico , Costa Rica , Cariótipo XYYRESUMO
Se analizan los resultados obtenidos en 42 pacientes con leucemia aguda no linfocítica, tratados con citocina arabinósido, 6-tioguanina y doxorrubicina o epirrubicina. Se obtuvo un 50 por ciento de remisión, una probabilidad de sobrevida libre de enfermedad de 18,43 por ciento, a los 56 meses, en los pacientes en los que se logró remisión. El 38 por ciento de los enfermos tratados falleció antes de completar la inducción por causas de sangrado o infección. En nuestro medio, es necesario una mejor infraestructura de Banco de Sangre, que permita la obtención más fácil de concentrados de plaquetas y mejores sistemas de prevención de infección, para evitar la alta mortalidad durante la fase de inducción de remisión. El estudio demuestra la posibilidad de curación para esta enfermedad en Costa Rica