RESUMO
OBJECTIVE: To determine the prevalence of JAK2 V617F mutation and its clinical correlation in patients with chronic myeloproliferative disorders (CMD): polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). MATERIALS AND METHODS: Detection of JAK2 V617F mutation by allele specific-PCR. RESULTS: One hundred and three patients with CMD were included in the study. JAK2 V617F distribution was PV 40/45 (89%), ET 30/43 (69%), and IMF 7/15 (47%). In PV and ET patients only, 18 had thrombosis at diagnosis and 12 during follow-up (these were microvascular: 11, venous: 7 and arterial: 12); of these 28/70 (40%) were JAK2pos versus 2/18 (11%) JAK2neg; P=0.02. In a median of 4 years, two patients with PV JAK2pos evolved to myelofibrosis and one patient with PV presented in leukemic transformation (JAK2pos before and after transformation); six patients died: four patients with IMF and two patients with PV. CONCLUSIONS: We found an association between JAK2 V617F and thrombotic events in patients with PV and ET.
Assuntos
Alelos , Janus Quinase 2/genética , Mutação de Sentido Incorreto , Transtornos Mieloproliferativos/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Substituição de Aminoácidos , Doença Crônica , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos Mieloproliferativos/complicações , Reação em Cadeia da Polimerase , Estudos Prospectivos , Trombose/etiologia , Trombose/genéticaRESUMO
PURPOSE: We describe a program for the promotion of hearing conservation aimed at the adolescent population. The intent of our program is to (a) detect hearing disorders early, as well as to establish their relation to psychosocial and acoustic factors; (b) devise a follow-up procedure to study relevant variables; (c) evaluate the relation between hearing disorders and genetic factors, and (d) raise the social awareness of the effects of noise and its consequences. METHOD: This program, designed to be carried out over a 7-year period, focuses on participants from technical schools in the city of Cordoba, Argentina. Every student will be examined at age 14-15 years and will be reexamined at age 17-18. There will be a yearly follow-up in those cases in which disorders are detected. RESULTS AND CONCLUSIONS: We discuss the organization and planning of this program, together with its launching in the first of the selected schools. We also describe the findings on the following topics: (a) the hearing data on adolescents (age 14-15 years); (b) their recreational habits, personality traits, and attitudes; and (c) the sound immision characteristics these individuals are exposed to during recreational activities.
Assuntos
Promoção da Saúde , Transtornos da Audição/prevenção & controle , Desenvolvimento de Programas , Adolescente , Feminino , Humanos , Percepção Sonora , Masculino , Música , Avaliação de Programas e Projetos de Saúde , RecreaçãoRESUMO
Current diagnosis of chronic Chagas disease relies on serologic detection of specific immunoglobulin G against Trypanosoma cruzi. However, the presence of parasites detected by polymerase chain reaction (PCR) in patients without positive conventional serologic testing has been observed. We determined the prevalence and clinical characteristics of persons with seronegative results and T. cruzi DNA detected by PCR in a population at high risk for chronic American trypanosomiasis. We studied a total of 194 persons from two different populations: 110 patients were recruited from an urban cardiology clinic, and 84 persons were citizens from a highly disease-endemic area. Eighty (41%) of persons had negative serologic findings; 12 (15%) had a positive PCR. Three patients with negative serologic findings and positive PCR results had clinical signs and symptoms that suggested Chagas cardiomyopathy. This finding challenges the current recommendations for Chagas disease diagnosis, therapy, and blood transfusion policies.
Assuntos
Doença de Chagas/parasitologia , Trypanosoma cruzi/isolamento & purificação , Adolescente , Adulto , Idoso , Animais , Anticorpos Antiprotozoários/sangue , Argentina/epidemiologia , Doença de Chagas/epidemiologia , Estudos Transversais , DNA de Protozoário/química , DNA de Protozoário/genética , Ensaio de Imunoadsorção Enzimática , Feminino , Técnica Indireta de Fluorescência para Anticorpo , Testes de Inibição da Hemaglutinação , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , População Rural , Estudos Soroepidemiológicos , Trypanosoma cruzi/genética , População UrbanaAssuntos
Humanos , Masculino , Feminino , RESEARCH SUPPORT, NON-U.S. GOVT , Fosfatase Alcalina/diagnóstico , Isoenzimas/diagnóstico , Biomarcadores Tumorais/diagnóstico , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/secundário , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/secundário , Linfoma/diagnóstico , Sensibilidade e Especificidade , Valor Preditivo dos Testes , Teorema de BayesRESUMO
En el plasma humano pueden encontrarse las isoenzimas ósea, hepática e intestinal de fosfatasa alcalina (EC 3.1.3.1). En el plasma de mujeres embarazadas, durante el último trimestre de gestación puede encontrarse otra isoenzima, la fosfatasa alcalina placentaria. Además, en extractos butanólicos de tejido placentario se ha encontrado una isoenzima unida a membrana, la fosfatasa alcalina placentaria de alto peso molecular. En suero de mujeres embarazadas se ha determinado la actividad de fosfatasa alcalina placentaria soluble pero, hasta el momento, no se ha detectado la presencia de la isoenzima de alto peso molecular. En nuestro laboratorio hemos desarrollado un método que permite la detección de fosfatasa alcalina de alto peso molecular en el pellet de plasma centrifugado a 100.000xg. Utilizando el mencionado método hemos determinado la actividad de fosfatasa alcalina placentaria de alto peso molecular en plasma de mujeres embarazadas durante el último trimestre de gestación (AU)
Assuntos
Humanos , Feminino , RESEARCH SUPPORT, NON-U.S. GOVT , Gravidez , Fosfatase Alcalina/sangue , Placenta/enzimologia , Gravidez/sangue , Terceiro Trimestre da Gravidez , Peso Molecular , Fosfatase Alcalina/isolamento & purificação , Fosfatase Alcalina/metabolismoAssuntos
Humanos , Masculino , Feminino , Fosfatase Alcalina , Isoenzimas , Linfoma/diagnóstico , Biomarcadores Tumorais , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/secundário , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/secundário , Teorema de Bayes , Valor Preditivo dos Testes , Sensibilidade e EspecificidadeRESUMO
En el plasma humano pueden encontrarse las isoenzimas ósea, hepática e intestinal de fosfatasa alcalina (EC 3.1.3.1). En el plasma de mujeres embarazadas, durante el último trimestre de gestación puede encontrarse otra isoenzima, la fosfatasa alcalina placentaria. Además, en extractos butanólicos de tejido placentario se ha encontrado una isoenzima unida a membrana, la fosfatasa alcalina placentaria de alto peso molecular. En suero de mujeres embarazadas se ha determinado la actividad de fosfatasa alcalina placentaria soluble pero, hasta el momento, no se ha detectado la presencia de la isoenzima de alto peso molecular. En nuestro laboratorio hemos desarrollado un método que permite la detección de fosfatasa alcalina de alto peso molecular en el pellet de plasma centrifugado a 100.000xg. Utilizando el mencionado método hemos determinado la actividad de fosfatasa alcalina placentaria de alto peso molecular en plasma de mujeres embarazadas durante el último trimestre de gestación