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Abstract Acute myeloid leukemia (AML) comprises a heterogeneous group of hematopoietic cell neoplasms of myeloid lineage that arise from the clonal expansion of their precursors in the bone marrow, interfering with cell differentiation, leading to a syndrome of bone marrow failure. AML is a consequence of genetic and epigenetic changes (point mutations, gene rearrangements, deletions, amplifications, and arrangements in epigenetic changes that influence gene expression) in hematopoietic precursor cells, which create a clone of abnormal cells that are capable of proliferating but cannot differentiate into mature hematopoietic cells or undergo programmed cell death. The diagnosis requires more than 20% myeloid blasts in the bone marrow and certain cytogenic abnormalities. Treatment will depend on age, comorbidities, and cytogenetic risk among the most frequent.
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Abstract Hemophilia is a hemorrhagic disorder with a sex-linked inherited pattern, characterized by an inability to amplify coagulation due to a deficiency in coagulation factor VIII (hemophilia A or classic) or factor IX (hemophilia B). Sequencing of the genes involved in hemophilia has provided a description and record of the main mutations, as well as a correlation with the various degrees of severity. Hemorrhagic manifestations are related to levels of circulating factor, mainly affecting the musculoskeletal system and specifically the large joints (knees, ankles and elbows). This document is a review and consensus of the main genetic aspects of hemophilia, from the inheritance pattern to the concept of women carriers, physiopathology and classification of the disorder, the basic and confirmation studies when hemophilia is suspected, the various treatment regimens based on infusion of the deficient coagulation factor as well as innovative factor-free therapies and recommendations for the management of complications associated with treatment (development of inhibitors and/or transfusion transmitted infections) or secondary to articular hemorrhagic events (hemophilic arthropathy). Finally, relevant reviews of clinical and treatment aspects of hemorrhagic pathology charachterized by acquired deficiency of FVIII secondary to neutralized antibodies named acquired hemophilia.
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Resumen: ANTECEDENTES: La leucemia mieloide crónica es una neoplasia mieloproliferativa; los inhibidores de tirosin cinasa son fármacos eficaces en el tratamiento de esta enfermedad, en el ISSSTE se cuenta con imatinib, nilotinib y dasatinib. OBJETIVOS: Conocer el número de casos de leucemia mieloide crónica de 2005 a 2016, identificar las características clínicas, medir el grado de respuesta y la supervivencia. MATERIAL Y MÉTODO: Estudio retrospectivo, transversal, observacional y explicativo, efectuado de 2005 a 2016, en el que se incluyeron pacientes mayores de 18 años de edad, con diagnóstico de leucemia mieloide crónica, con cualquier fase de la enfermedad y en tratamiento con cualquiera de los inhibidores de tirosin cinasa. RESULTADOS: Se incluyeron 31 casos (55.2% mujeres); la mediana de edad fue 62 años. El 72.4% estaba en fase crónica, 27.6% en fase acelerada y ninguno en fase blástica. La respuesta hematológica fue de 94.1, 90 y 96%; la respuesta citogenética completa a 12 meses fue de 69.2, 60 y 57%; la respuesta molecular mayor se documentó en 62.9, 68.6 y 69.1% para imatinib, nilotinib y dasatinib, respectivamente. La supervivencia libre de enfermedad en este grupo a cinco años fue de 83%. La supervivencia global a cinco años fue de 94%. CONCLUSIONES: Independientemente del inhibidor prescrito se logran respuestas hematológicas superiores a 90%, citogenéticas completas en alrededor de 60% a 12 meses y moleculares mayores de 60% en un hospital del ISSSTE.
Abstract: BACKGROUND: Chronic myeloid leukemia is a myeloproliferative disease; the most effective drugs in the treatment of this disease are imatinib, nilotinib and dasatinib. Those drugs are available at the ISSSTE. OBJECTIVES: To know the number of chronic myeloid leukemia cases, to identify the clinical characteristics and to measure the degree of response to tyrosine kinase inhibitors and the survival. MATERIAL AND METHOD: A retrospective, cross-sectional, observational and explanatory study was done from 2005 to 2016, including patients over 18 years of age, with a diagnosis of chronic myeloid leukemia; with any of the three phases of the disease and treatment with any of the tyrosine kinase inhibitors. RESULTS: There were included 31 cases (55.2% women); the median age was 62 years; 72.4% were in chronic phase, 27.6% in accelerated phase and none in the blast phase. The haematological response was of 94.1%, 90% and 96%; the complete cytogenetic response at 12 months was of 69.2%, 60% and 57% and the mayor mo- lecular response was of 62.9%, 68.6%, 69.1% of the patients treated with imatinib, nilotinib or dasatinib, respectively. Disease-free survival at 5 years was of 83% and global survival at 5 years was of 94%. CONCLUSION: Independently of the inhibitor prescribed, the hematologic response is achieved in more than 90%, the complete cytogenetics around 60% at 12 months and major molecular almost 60% in a ISSSTE hospital.