RESUMO
Isocitrate dehydrogenase 1 (IDH1) and 2 (IDH2) mutations in Myeloid Neoplams (MNs) exhibit DNA hypermethylation via 2-hydroxyglutarate (2HG) over-production. Clinical impact of azacitidine (AZA) remains inconsistent in IDH1/2-mutated MNs and the potential of serum 2HG as a suitable marker of response to AZA is unknown. To address these questions, we retrospectively analyzed 93 MNs patients (78 AML, 11 MDS, 4 CMML) with IDH1/2 mutations treated with AZA. After a median of 5 cycles of AZA, overall response rate was 28% (including 15% complete remission) and median OS was 12.3 months (significantly shorter in AML compared to MDS/CMML patients). In multivariate analysis of AML patients, DNMT3A mutation was associated with shorter OS while IDH1/2 mutation subtypes had no independent impact. No difference was observed in serum 2HG levels upon AZA treatment between responding and refractory patients suggesting that serum 2HG cannot be used as a surrogate marker of AZA response.
Assuntos
Leucemia Mieloide Aguda , Síndromes Mielodisplásicas , Azacitidina/uso terapêutico , Humanos , Isocitrato Desidrogenase/genética , Leucemia Mieloide Aguda/tratamento farmacológico , Leucemia Mieloide Aguda/genética , Mutação , Estudos RetrospectivosRESUMO
Two decades following their description, the significance of Modic vertebral endplate and marrow changes remains a matter of debate. These changes are closely related to the normal degenerative process affecting the lumbar spine, and their prevalence increases with age. However, the exact pathogenesis underlying these changes and their relation to segmental instability of the lumbar spine and to low back pain remain unclear. In this paper, we review the literature relevant to this topic and discuss the currently available evidence regarding the pathologic and clinical significance of Modic changes.
Assuntos
Doenças da Medula Óssea/complicações , Doenças da Medula Óssea/diagnóstico , Deslocamento do Disco Intervertebral/diagnóstico , Instabilidade Articular/diagnóstico , Dor Lombar/diagnóstico , Dor Lombar/etiologia , Compressão da Medula Espinal/diagnóstico , Deslocamento do Disco Intervertebral/complicações , Instabilidade Articular/etiologia , Vértebras Lombares/patologia , Imageamento por Ressonância Magnética/métodos , Compressão da Medula Espinal/etiologia , Coluna Vertebral/patologiaRESUMO
Trigeminal neuralgia has been rarely reported in association with dural arteriovenous malformations (DAVMs). We describe a case of trigeminal neuralgia resulting from compression of the trigeminal nerve at its root entry zone by a large tentorial DAVM. Surgical interruption of the draining vein at its exit from the tentorium resulted in complete angiographic obliteration of the fistula with immediate resolution of the facial pain. We review the literature relevant to this topic and discuss the aetiology and pathophysiology of trigeminal neuralgia as well as the management of tentorial DAVMs.
Assuntos
Malformações Vasculares do Sistema Nervoso Central/complicações , Malformações Vasculares do Sistema Nervoso Central/cirurgia , Procedimentos Neurocirúrgicos , Neuralgia do Trigêmeo/etiologia , Adulto , Malformações Vasculares do Sistema Nervoso Central/diagnóstico , Cerebelo/irrigação sanguínea , Cerebelo/patologia , Angiografia Cerebral , Artérias Cerebrais/diagnóstico por imagem , Veias Cerebrais/diagnóstico por imagem , Veias Cerebrais/cirurgia , Humanos , Imageamento por Ressonância Magnética , Masculino , Síndromes de Compressão Nervosa/etiologia , Nervo TrigêmeoRESUMO
Korsakoff-like amnestic syndromes have been rarely described following structural lesions of the central nervous system. In this report, we describe a case of acute Korsakoff-like syndrome resulting from the combination of a left anteromedian thalamic infarct and a right hippocampal hemorrhage. We also review the literature relevant to the neuropathology and pathophysiology of Korsakoff syndrome and anterograde amnesia.
