Assuntos
COVID-19/diagnóstico por imagem , Pneumonia por Pneumocystis/diagnóstico por imagem , Idoso , COVID-19/complicações , COVID-19/diagnóstico , Teste de Ácido Nucleico para COVID-19 , Humanos , Leucemia Linfocítica Crônica de Células B/tratamento farmacológico , Leucemia Linfocítica Crônica de Células B/imunologia , Masculino , Pneumocystis carinii , Pneumonia por Pneumocystis/complicações , Pneumonia por Pneumocystis/prevenção & controle , Radiografia Torácica , Tomografia Computadorizada por Raios XRESUMO
CCAAT/enhancer-binding protein-α (C/EBPα/CEBPA) is mutated in approximately 8% of acute myeloid leukemia (AML) in both familial and sporadic AML and, with FLT3 and NPM1, has received most attention as a predictive marker of outcome in patients with normal karyotype disease. Mutations clustering to either the N- or C-terminal (N- and C-ter) portions of the protein have different consequences on the protein function. In familial cases, the N-ter form is inherited with patients exhibiting long latency period before the onset of overt disease, typically with the acquisition of a C-ter mutation. Despite the essential insights murine models provide the functional consequences of wild-type C/EBPα in human hematopoiesis and how different mutations are involved in AML development have received less attention. Our data underline the critical role of C/EBPα in human hematopoiesis and demonstrate that C/EBPα mutations (alone or in combination) are insufficient to convert normal human hematopoietic stem/progenitor cells into leukemic-initiating cells, although individually each altered normal hematopoiesis. It provides the first insight into the effects of N- and C-ter mutations acting alone and to the combined effects of N/C double mutants. Our results mimicked closely what happens in CEBPA mutated patients.
Assuntos
Proteínas Estimuladoras de Ligação a CCAAT/genética , Transformação Celular Neoplásica/patologia , Regulação Leucêmica da Expressão Gênica , Hematopoese/fisiologia , Células-Tronco Hematopoéticas/citologia , Células-Tronco Hematopoéticas/metabolismo , Mutação/genética , Animais , Apoptose , Western Blotting , Ciclo Celular , Diferenciação Celular , Ensaio de Unidades Formadoras de Colônias , Citometria de Fluxo , Humanos , Leucemia Mieloide Aguda/genética , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Endogâmicos NOD , Camundongos SCID , Células Mieloides/citologia , Células Mieloides/metabolismo , Nucleofosmina , RNA Mensageiro/genética , Reação em Cadeia da Polimerase em Tempo Real , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Microglobulina beta-2/fisiologia , Tirosina Quinase 3 Semelhante a fmsRESUMO
OBJECTIVE: To discuss about management of facial paralysis reccurence and to highlight the ENT's important role in the diagnosis of systemic diseases. MATERIAL AND METHODS: This article presents a case report about a controlateral facial palsy recurrence, two months later in a fifty-two year's old woman. This cranial nerves involvement was due to non-Hodgkin lymphoma with neuro-meningeal spreading. The first palsy had completely recovered with steroids. The early recurrence of the palsy and the lymph nodes areas exam lead to the diagnosis. The patient was treated by chemotherapy with good neuromeningeal diffusion. The facial score rapidly improved, according to facial electromyography results. DISCUSSION: Specific biological and radiological explorations are usually carried out in recurrent facial palsy. Complete clinical examination and cerebrospinal fluid study are useful in this case. Moreover it should be preferable to do these explorations before steroid therapy. A diffuse meningeal enhancement on the MRI can complete sometimes clinical and biological data. CONCLUSION: Cranial nerves involvement is sometimes one of the first symptoms of neuro-meningeal lymphoma. Facial palsy reccurence has to conduce ENT pratician to do more specific explorations, of which CSF analysis is required.
