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Id: biblio-1051370
Autor: Pérez N, Claudio; León V, Liliam; Pinto L, Araceli; Muñoz G, Gabriela; Alfaro L, Jorge; Larrondo L, Milton.
Título: Estandarización de la técnica Real Time PCR para la detección molecular de la mutación V617F en el gen de JAK-2 en neoplasias mieloproliferativas crónicas / Standardization of the Real Time PCR technique for the molecular detection of the V617F mutation in the JAK-2 gene in chronic myeloproliferative neoplasms
Fonte: Rev. Hosp. Clin. Univ. Chile;30(3):207-217, 2019. tab, graf, ilus.
Idioma: es.
Resumo: V617F mutation in exon 14 of Janus Kinase 2 gene (jak-2) is used as a molecular marker for the diagnosis of Philadelphia negative myeloproliferative neoplasms (Phi-) such as Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Primary Myelofibrosis (MFP). To detect this mutation, we used conventional polymerase chain reaction technique (PCR), a simple and inexpensive technique, however, has some drawbacks that current technology allows to solve. During the last years, more sensitive molecular techniques have been incorporated in clinical practice to support the diagnosis, prognosis and follow-up of hematological patients. For its implementation in the clinical routine should be considered technical and economic aspects, so in this work, we evaluate the Real Time PCR technique as a diagnostic method for the detection of the Jak-2-V617F mutation, using in house primers design. Our result show that the technique implemented has a concordance index of 0.87 with the conventional PCR used in the molecular diagnosis of myeloproliferative neoplasms. In addition, it has the same specificity, greater sensitivity and, shorter execution time in relation to conventional PCR. The implementation of this diagnostic method in our Hospital is technically possible and commercially convenient. (AU)
Descritores: Janus Quinase 2/análise
Reação em Cadeia da Polimerase em Tempo Real/métodos
Transtornos Mieloproliferativos/diagnóstico
-Reação em Cadeia da Polimerase em Tempo Real/tendências
Limites: Humanos
Tipo de Publ: Estudo de Validação
Responsável: CL36.1 - Biblioteca Hospital Clínico


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Id: biblio-1049708
Autor: Silveira, Simone; .Máximo, Claudia; .Miranda, Heloisa; .Wendling, Patrícia; .Madeira, Tania; .Boquimpani, Carla; .Monteiro, Marcos.
Título: Síndrome mieloproliferativa crônica: policitemia vera, mielofibrose e trombocitemia essencial: orientações básicas aos pacientes e familiares / Chronic myeloproliferative syndrome: polycythemia vera, myelofibrosis and essential thrombocythemia: basic guidelines for patients and families.
Fonte: Rio de Janeiro; HEMORIO; 2014. 9 p.
Idioma: pt.
Descritores: Policitemia Vera
Trombocitopenia
Mielofibrose Primária
Assistência ao Paciente
-Síndrome
Doença Crônica
Transtornos Mieloproliferativos
Limites: Humanos
Tipo de Publ: Guia de Prática Clínica
Responsável: BR454.4


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Id: biblio-983087
Autor: Basquiera, Ana Lisa.
Título: Supervivencia a largo plazo de pacientes con síndromes mieloproliferativos crónicos filadelfia negativos y su relación con variables clínico-patológicas.
Fonte: Córdoba; s.n; 2017. 120 p. ilus, graf.
Idioma: es.
Tese: Apresentada a Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Dr. en Medicina y Cirugía para obtenção do grau de Doutor.
Resumo: RESUMEN: Los sindromes mieloproliferativos crónicos (SMP) Filadelfia negativosclásicos incluyen tres neoplasias hematológicas caracterizadas por exceso deproliferación de progenitores del linaje mieloide: policitemia vera (PV),trombocitemia esencial (TE) y mielofibrosis primaria (MFP).En el presente estudio multicéntrico y prospectivo se incluyeron 102pacientes con diagnóstico de SMP con el objetivo de estudiar variables clínicas ypatológicas asociadas con supervivencia a largo plazo. Al momento de la inclusiónse estudió la presencia de la mutación V617F del gen JAK2 y otras mutaciones delgen JAK2. En una mediana de seguimiento de 11,5 años, se registraron eventostrombóticos, hemorrágicos, progresión hematológica y otros tumores primarios.Los resultados obtenidos demostraron que los pacientes positivos para lamutación JAK2V617F tuvieron mayor edad, mayor prevalencia de hipertensiónarterial, mayor valor de glóbulos blancos y fosfatasa alcalina leucocitaria. Lamutación se asoció a mayor riesgo de trombosis y ello se trasladó a unasupervivencia libre de eventos trombóticos inferior para los pacientes JAK2V617Fpositivos. La incidencia de transformación fibrótica a 10 años para los pacientes conPV y TE fue de 5,9%. La incidencia de progresión a mielodisplasia y leucemia agudapara todos los pacientes fue de 2,5% a 10 años. Para todos los pacientes la edadmayor o igual a 60 años se asoció a inferior supervivencia global y en pacientes conPV también la trombosis arterial. Se demostró que las causas de muerte de estospacientes no sólo estuvieron relacionadas a la progresión de la malignidad primariasino también a causas no malignas (eventos cardiovasculares) o malignidadessecundarias no hematológicas.En conclusión, los SMP Filadelfia negativos son patologías complejas deevolución variable. Los datos obtenidos en este trabajo y las asociacionesencontradas permitirán mejorar las estrategias de seguimiento y tratamiento deestos pacientes.

SUMMARY: Philadelphia chromosome-negative chronic myeloproliferative neoplasms(MPN) are hematological malignancies characterized by excessive proliferation ofmyeloid progenitor cells. The three classical entities are: polycythemia vera (PV),essential thrombocythemia (ET) and primary mielofibrosis (PMF).In this multicenter and prospective study 102 patients with diagnosis ofclassical MPN were included. The purpose of this study was to analyze the impact ofclinical and pathological variable on long-term survival. At inclusion, JAK2V617F andothers JAK2 mutations were studied in all patients. In a median of follow-up of 11.5years, vascular events, hematological progression and others primary tumors wereregistered.The results showed that JAK2V617F mutation positive patients were olderand had a higher rate of arterial hypertension, white cell counts, and alkalinephosphatase score. JAK2V61F was associated with a higher risk of thrombosis and alower thrombotic event free survival. The 10-year cumulative incidence of fibrotictransformation for patients with PV and ET was 5.9% and the 10-year cumulativeincidence of myelodysplasia and leukemia transformation was 2.5%. For all patients,age equal or more than 60 years old was associated with inferior overall survival; inpatients with PV also the arterial thrombosis affected the overall survival. Causes ofdeath of this cohort were related not only to the progression of hematologicalmalignancy but also to vascular events and others primary tumors.In conclusion MPN are complex diseases with variable clinical outcome. Thepresent study offers important insights about the natural history of this group ofmalignancies and provides information for developing treatment and follow-upstrategies.
Descritores: Células da Medula Óssea
Leucemia Mielogênica Crônica BCR-ABL Positiva/sangue
Transtornos Mieloproliferativos/diagnóstico
Patologia Clínica
Limites: Masculino
Feminino
Humanos
Tipo de Publ: Estudo de Validação
Responsável: AR32.1 - Biblioteca Prof. Dr. J. M. Allende
AR32.1; T, B-98 2017


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Id: biblio-884798
Autor: Martínez, Roxana; Fernández, Areli.
Título: Reacciones leucemoides en el recién nacido / Leukemoid reactions in the newborn
Fonte: Acta pediátr. hondu;1(1):26-29, abr.-sept. 2010. tab.
Idioma: es.
Resumo: Presentamos el caso de una recién nacida prematura y de bajo peso al nacer que desarrolló cuentas leucocitarias elevadas hasta más de 100,000 x mmc, sin otras anormalidades hematológicas y que resolvió espontáneamente. A propósito del caso se revisó las ca usas de reacciones leucemoides en el período neonatal. En primer lugar la causa más conocida: síndrome míeloprollferatlvo transitorio, descrito en trisomía 21. En pacientes sin anomalías cromosómicas el uso de esteroides para inducir la maduración pulmonar , la corioamnlonitls y la prematurez extrema son exploradas como causas de RL. Luego revisamos el desarrollo de dlsplasia broncopulmonar y el síndrome de respuesta inflamatoria slstémlca en relación a RL...(AU)
Descritores: Displasia Broncopulmonar
Síndrome de Down/complicações
Reação Leucemoide/congênito
Transtornos Mieloproliferativos/diagnóstico
Limites: Humanos
Feminino
Recém-Nascido
Tipo de Publ: Ensaio Clínico
Responsável: HN1.1 - Biblioteca Médica Nacional


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Id: biblio-837123
Autor: Campos, Paula de Melo.
Título: Primary myelofibrosis: current therapeutic options
Fonte: Rev. bras. hematol. hemoter;38(3):257-263, 2016. tabela, figura.
Idioma: en.
Resumo: Primary myelofibrosis is a Philadelphia-negative myeloproliferative neoplasm characterized by clonal myeloid expansion, followed by progressive fibrous connective tissue deposition in the bone marrow, resulting in bone marrow failure. Clonal evolution can also occur, with an increased risk of transformation to acute myeloid leukemia. In addition, disabling constitutional symptoms secondary to the high circulating levels of proinflammatory cytokines and hepatosplenomegaly frequently impair quality of life. Herein the main current treatment options for primary myelofibrosis patients are discussed, contemplating disease-modifying therapeutics in addition to palliative measures, in an individualized patient-based approach
Descritores: Janus Quinase 2
Transtornos Mieloproliferativos
Mielofibrose Primária
Limites: Humanos
Tipo de Publ: Revisão
Responsável: BR408.1 - Biblioteca da Faculdade de Medicina - BFM


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Texto completo SciELO Brasil
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Id: lil-735987
Autor: Mirheydar, Hossein S.; Banapour, Pooya; Massoudi, Rustin; Palazzi, Kerrin L.; Jabaji, Ramzi; Reid, Erin G.; Millard, Frederick E.; Kane, Christopher J.; Sur, Roger L..
Título: What is the Incidence of Kidney Stones after Chemotherapy in Patients with Lymphoproliferative or Myeloproliferative Disorders?
Fonte: Int. braz. j. urol;40(6):772-780, Nov-Dec/2014. tab, graf.
Idioma: en.
Resumo: Introduction This study describes the incidence and risk factors of de novo nephrolithiasis among patients with lymphoproliferative or myeloproliferative diseases who have undergone chemotherapy. Materials and Methods From 2001 to 2011, patients with lymphoproliferative or myeloproliferative disorders treated with chemotherapy were retrospectively identified. The incidence of image proven nephrolithiasis after chemotherapy was determined. Demographic and clinical variables were recorded. Patients with a history of nephrolithiasis prior to chemotherapy were excluded. The primary outcome was incidence of nephrolithiasis, and secondary outcomes were risk factors predictive of de novo stone. Comparative statistics were used to compare demographic and disease specific variables for patients who developed de novo stones versus those who did not. Results A total of 1,316 patients were identified and the incidence of de novo nephrolithiasis was 5.5% (72/1316; symptomatic stones 1.8% 24/1316). Among patients with nephrolithiasis, 72.2% had lymphoproliferative disorders, 27.8% had myeloproliferative disorders, and 25% utilized allopurinol. The median urinary pH was 5.5, and the mean serum uric acid, calcium, potassium and phosphorus levels were 7.5, 9.6, 4.3, and 3.8 mg/dL, respectively. In univariate analysis, mean uric acid (p=0.013), calcium (p<0.001)), and potassium (p=0.039) levels were higher in stone formers. Diabetes mellitus (p<0.001), hypertension (p=0.003), and hyperlipidemia (p<0.001) were more common in stone formers. In multivariate analysis, diabetes mellitus, hyperuricemia, and hypercalcemia predicted stone. Conclusions We report the incidence of de novo nephrolithiasis in patients who have undergone chemotherapy. Diabetes mellitus, hyperuricemia, and hypercalcemia are patient-specific risk factors that increase the odds of developing an upper tract stone following chemotherapy. .
Descritores: Cálculos Renais/etiologia
Transtornos Linfoproliferativos/tratamento farmacológico
Transtornos Mieloproliferativos/tratamento farmacológico
-Alopurinol/uso terapêutico
Cálcio/análise
Complicações do Diabetes
Hipercalcemia/complicações
Hiperuricemia/complicações
Análise Multivariada
Potássio/análise
Estudos Retrospectivos
Medição de Risco
Fatores de Risco
Estatísticas não Paramétricas
Síndrome de Lise Tumoral/complicações
Síndrome de Lise Tumoral/tratamento farmacológico
Limites: Adulto
Idoso
Feminino
Humanos
Masculino
Pessoa de Meia-Idade
Responsável: BR1.1 - BIREME


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Id: lil-729583
Autor: Ramírez, Ana Catalina; Correa Gaviria, Simón; Espinoza Herrera, Yeinis Paola; Marín, Juan Ignacio; Muñoz, Octavio; Santos, Oscar; Hoyos Duque, Sergio; Guzmán, Carlos; Mena, Álvaro; Restrepo Gutiérrez, Juan Carlos.
Título: Síndrome de Budd Chiari: Reporte de tres casos y revisión de la literatura / Budd Chiari Syndrome: Three Case Reports and a Literature Review
Fonte: Rev. colomb. gastroenterol;29(3):281-284, set. 2014.
Idioma: es.
Resumo: Se describen los casos de tres pacientes de sexo femenino a quienes se les hizo diagnóstico de síndrome de Budd Chiari. En una paciente la presentación del síndrome fue subaguda, pudiendo ser manejada exitosamente con la colocación de TIPS. Otra con mutación del factor V Leyden asociada desarrolló disfunción hepática progresiva y requirió de trasplante hepático. En dos de los tres casos se identificó una enfermedad hematológica como trastorno de base, y en uno el uso de anticonceptivos orales como factor de riesgo. Las tres pacientes fueron sometidas a terapia anticoagulante y el manejo quirúrgico fue definido de acuerdo a su condición clínica. Sin embargo, en un caso la presentación fue aguda con falla hepática y muerte.

This article describes the cases of three female patients who were diagnosed with Budd-Chiari syndrome. One patient was subacute and could be successfully managed by placement of a transjugular intrahepatic portosystemic stent (TIPS). Another patient who had the Factor V Leiden mutation developed associated progressive liver dysfunction and required liver transplantation. A hematologic disease was identified as the underlying disorder in two of the three cases. For one patient, the use of oral contraceptives was a risk factor. Since all three patients were undergoing anticoagulant therapy, surgical management was determined according to each patient's clinical condition. Nevertheless, the one patient who that presented acute hepatic failure did not survive.
Descritores: Anticoagulantes
Síndrome de Budd-Chiari
Transtornos Mieloproliferativos
Derivação Portossistêmica Transjugular Intra-Hepática
Trombose
-Angioplastia
Fator V
Transplante de Fígado
Trombofilia
Limites: Humanos
Feminino
Adulto
Tipo de Publ: Relatos de Casos
Responsável: CO332 - Facultad de Medicina


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Texto completo SciELO Brasil
Visentainer, Jeane Eliete Laguila
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Id: lil-665911
Autor: Pagliarini-e-Silva, Sarah; Santos, Bruna Cunha; Pereira, Elizangela Mendes de Figueiredo; Ferreira, Mari Ellen; Baraldi, Elaine Cristina; Sell, Ana Maria; Visentainer, Jeane Eliete Laguila.
Título: Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population
Fonte: Clinics;68(1):5-9, Jan. 2013. ilus, tab.
Idioma: en.
Resumo: OBJECTIVE: The JAK2 46/1 haplotype has recently been described as a major contributing factor to the development of myeloproliferative neoplasm, whether positive or negative forthe JAK2 V617F mutation. The G allele, identified by a single-nucleotide polymorphism known as JAK2 rs10974944, is part of the JAK2 46/1 haplotype. The aim of this study was to verify the association between the presence of the G allele and the development of BCR-ABL-negative chronic myeloproliferative neoplasms in our population. METHODS: Blood and oral mucosa swab samples were obtained from 56 patients of two local Brazilian hospitals who had previously been diagnosed with BCR-ABL-negative chronic myeloproliferative neoplasms. Blood samples from 90 local blood donors were used as controls. The presence of the G allele was assessed using a PCR-RFLP assay after extracting DNA from the samples. RESULTS: The presence of the G allele was strongly associated with the presence of BCR-ABL-negative chronic myeloproliferative neoplasms (p = 0.0001; OR = 2.674; 95% CI = 1.630-4.385) in the studied population. CONCLUSION: In agreement with previous reports, the JAK2 46/1 haplotype, represented in this study by the presence of the G allele, is an important predisposing factor in the oncogenetic development of these neoplasms in our population.
Descritores: Haplótipos/genética
/genética
JANUS KINASE TEMEFOS/genética
Transtornos Mieloproliferativos/genética
-Brasil
Distribuição de Qui-Quadrado
Doença Crônica
Proteínas de Fusão bcr-abl/genética
Frequência do Gene
Mutação/genética
Reação em Cadeia da Polimerase
Polimorfismo de Fragmento de Restrição/genética
Distribuição por Sexo
Limites: Idoso
Idoso de 80 Anos ou mais
Feminino
Humanos
Masculino
Pessoa de Meia-Idade
Adulto Jovem
Responsável: BR1.1 - BIREME


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Texto completo SciELO Brasil
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Id: lil-624771
Autor: Campregher, Paulo Vidal; Santos, Fábio Pires de Souza; Perini, Guilherme Fleury; Hamerschlak, Nelson.
Título: Molecular biology of Philadelphia-negative myeloproliferative neoplasms
Fonte: Rev. bras. hematol. hemoter;34(2):150-155, 2012.
Idioma: en.
Resumo: Myeloproliferative neoplasms are clonal diseases of hematopoietic stem cells characterized by myeloid hyperplasia and increased risk of developing acute myeloid leukemia. Myeloproliferative neoplasms are caused, as any other malignancy, by genetic defects that culminate in the neoplastic phenotype. In the past six years, since the identification of JAK2V617F, we have experienced a substantial increase in our knowledge about the genetic mechanisms involved in the genesis of myeloproliferative neoplasms. Mutations described in several genes have revealed a considerable degree of molecular homogeneity between different subtypes of myeloproliferative neoplasms. At the same time, the molecular differences between each subtype have become clearer. While mutations in several genes, such as JAK2, myeloproliferative leukemia (MPL) and LNK have been validated in functional assays or animal models as causative mutations, the roles of other recurring mutations in the development of disease, such as TET2 and ASXL1 remain to be elucidated. In this review we will examine the most prevalent recurring gene mutations found in myeloproliferative neoplasms and their molecular consequences.
Descritores: Janus Quinases
Leucemia Mieloide Aguda
Transtornos Mieloproliferativos
Policitemia Vera
Mielofibrose Primária
Trombocitemia Essencial
Limites: Humanos
Tipo de Publ: Revisão
Responsável: BR408.1 - Biblioteca da Faculdade de Medicina - BFM


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Vassallo, José
Chauffaille, Maria de Lourdes L. F
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Id: lil-624770
Autor: Bittencourt, Rosane Isabel; Vassallo, Jose; Chauffaille, Maria de Lourdes Lopes Ferrari; Xavier, Sandra Guerra; Pagnano, Katia Borgia; Nascimento, Ana Clara Kneese; De Souza, Carmino Antonio; Chiattone, Carlos Sergio.
Título: Philadelphia-negative chronic myeloproliferative neoplasms
Fonte: Rev. bras. hematol. hemoter;34(2):140-149, 2012. ilus, tab.
Idioma: en.
Resumo: Chronic myeloproliferative diseases without the Philadelphia chromosome marker (Ph-), although first described 60 years ago, only became the subject of interest after the turn of the millennium. In 2001, the World Health Organization (WHO) defined the classification of this group of diseases and in 2008 they were renamed myeloproliferative neoplasms based on morphological, cytogenetic and molecular features. In 2005, the identification of a recurrent molecular abnormality characterized by a gain of function with a mutation in the gene encoding Janus kinase 2 (JAK2) paved the way for greater knowledge of the pathophysiology of myeloproliferative neoplasms. The JAK2 mutation is found in 90-98% of polycythemia vera and in about 50% essential thrombocytosis and primary myelofibrosis. In addition to the JAK2 mutation, other mutations involving TET2 (ten-eleven translocation), LNK (a membrane-bound adaptor protein); IDH1/2 (isocitrate dehydrogenase 1/2 enzyme); ASXL1 (additional sex combs-like 1) genes were found in myeloproliferative neoplasms thus showing the importance of identifying molecular genetic alterations to confirm diagnosis, guide treatment and improve our understanding of the biology of these diseases. Currently, polycythemia vera, essential thrombocytosis, myelofibrosis, chronic neutrophilic leukemia, chronic eosinophilic leukemia and mastocytosis are included in this group of myeloproliferative neoplasms, but are considered different situations with individualized diagnostic methods and treatment. This review updates pathogenic aspects, molecular genetic alterations, the fundamental criteria for diagnosis and the best approach for each of these entities.
Descritores: Transtornos Mieloproliferativos
Policitemia Vera
Mielofibrose Primária
Trombocitemia Essencial
Limites: Humanos
Tipo de Publ: Revisão
Responsável: BR408.1 - Biblioteca da Faculdade de Medicina - BFM



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