RESUMO
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a disease that should be considered as a differential diagnosis to acute ischemic stroke taking into account its onset pattern and neurological symptoms, which are similar to those of an ischemic stroke. Technological advancements in neuroimaging modalities have greatly facilitated differential diagnosis between stroke and MELAS on diagnostic imaging. Stroke-like episodes in MELAS have the following features: (1) symptoms are neurolocalized according to lesion site; (2) epileptic seizures are often present; (3) lesion distribution is inconsistent with vascular territory; (4) lesions are common in the posterior brain regions; (5) lesions continuously develop in adjacent sites over several weeks or months; (6) neurological symptoms and stroke-like lesions tend to be reversible, as presented on magnetic resonance imaging; (7) the rate of recurrence is high; and; (8) brain dysfunction and atrophy are slowly progressive. The m.3243ANG mutation in the MT-TL1 gene encoding the mitochondrial tRNALeu(UUR) is most commonly associated with MELAS. Although the precise pathophysiology is still unclear, one possible hypothesis for these episodes is a neuronal hyperexcitability theory, including neuron-astrocyte uncoupling. Supplementation, such as with L-arginine or taurine, has been proposed as preventive treatments for stroke-like episodes. As this disease is still untreatable and devastating, numerous drugs are being tested, and new gene therapies hold great promise for the future. This article contributes to the understanding of MELAS and its implications for clinical practice, by deepening their insight into the latest pathophysiological hypotheses and therapeutic developments.
Assuntos
AVC Isquêmico , Síndrome MELAS , Acidente Vascular Cerebral , Encéfalo/patologia , Humanos , Síndrome MELAS/diagnóstico por imagem , Síndrome MELAS/genética , Síndrome MELAS/terapia , RNA de Transferência de Leucina , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/terapiaRESUMO
PURPOSE: To assess the efficacy of (1)H MR spectroscopy (MRS) to evaluate early responses to neoadjuvant chemotherapy in breast cancer patients, as compared to that of the standardized uptake value (SUV) in (18)F-fluorodeoxyglucose (FDG) positron emission tomography (PET). MATERIALS AND METHODS: This retrospective study included seven patients with breast cancer who had both single-voxel (1)H MRS and PET/computed tomography (CT) acquired before, during, and after neoadjuvant chemotherapy. RESULTS: The averages of the Choline (Cho) integral value and peak SUV before chemotherapy were 2.5 (range, 1.2-5.3) and 7.5 (range, 1.9-19), respectively. Three cases became negative for both Cho and peak SUV after two cycles of chemotherapy, and one patient became negative before surgery. In the remaining three patients, the curves of both values paralleled the time course of chemotherapy treatment. The difference between Cho and peak SUV before, during, and after chemotherapy was r = 0.65 (P = 0.12), r = 0.80 (P = 0.03), and r = 0.99 (P < 0.001), respectively. The reduction rate (RR) of both values after chemotherapy was also correlated (r = 0.84, P = 0.02). CONCLUSION: A change in the Cho integral value is well correlated with that of peak SUV in the time course of neoadjuvant chemotherapy; thus, breast (1)H MRS is thought to be an alternative to sequential (18)F-FDG PET.