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1.
Cerebrovasc Dis ; 52(5): 552-559, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36716718

RESUMO

INTRODUCTION: Initial NIHSS in anterior large vessel occlusion (LVO) correlates partially with the hypoperfusion volume. We aimed at assessing the contribution of crossed cerebellar diaschisis (CCD) from the hypoperfused territory on LVO initial clinical deficit. METHODS: CCD was retrospectively identified by brain CT perfusion imaging (CTP) in patients with anterior LVO treated by mechanical thrombectomy from January 2017 to July 2021. CCD was defined by CTP parameter alteration in the contralateral cerebellar hemisphere to the LVO. NIHSS, clinical/perfusion variables, and CCD were included in regression models to assess their interrelationships. RESULTS: 206 patients were included. CCD was present in 90 patients (69%). NIHSS scores were higher on admission and at stroke discharge among patients with CCD (17.90 ± 6.1 vs. 11.4 ± 8.4, p < 0.001; 9.6 ± 7.7 vs. 6.6 ± 7.9, p = 0.049; respectively). Patients with a CCD had higher stroke volumes (118.2 ± 60.3 vs. 69.3 ± 59.7, p < 0.001) and lower rate of known atrial fibrillation (22% vs. 41%, p = 0.021). On multivariable logistic regression, CCD independently worsened the initial NIHSS (OR 4.85 [2.37-7.33]; p < 0.001). CONCLUSION: CCD is found in 69% of LVO on admission CTP, correlates with stroke volumes, and independently worsens initial NIHSS.


Assuntos
Isquemia Encefálica , Diásquise , Acidente Vascular Cerebral , Humanos , Estudos Retrospectivos , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/etiologia , Acidente Vascular Cerebral/terapia , Cerebelo/diagnóstico por imagem
2.
Acta Neurochir (Wien) ; 165(3): 693-699, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36781461

RESUMO

PURPOSE: Bevacizumab's use in recurrent high-grade glioma is controversial. This study evaluates outcomes in recurrent high-grade glioma patients receiving bevacizumab alone or combined with chemotherapy as a late-line treatment. METHODS: We retrospectively analyzed patients treated with bevacizumab alone or combined with chemotherapy for high-grade gliomas who showed tumor progression after multiple treatment attempts. Overall survival (OS) and progression-free survival (PFS) were analyzed with Kaplan-Meier curves. Predictors of PFS according to prognostic variables were assessed with regression analysis. RESULTS: Between 2010 and 2022, 31 consecutive patients received bevacizumab alone or combined with chemotherapy as a late-line treatment for recurrent high-grade gliomas. Of these patients, 14 (45.2%) were responders according to RANO criteria, and 17 (54.8%) showed progressive or stable disease. OS at 3, 6, and 12 months was 80.3%, 62.1%, and 43.5. PFS was 48.4%, 34.3%, and 21.8%, respectively. In the multivariate survival analysis, the only factor independently associated with PFS was smaller 2D tumor size in post-contrast T1-weighted MRI at bevacizumab initiation (p = 0.02). Median time-to-progression was 3 months (95%CI: 1-4) in the unmethylated MGMT promoter group and 6 (95%CI: 1-11) in the methylated MGMT promoter group. This difference was not statistically significant (p = 0.37). CONCLUSIONS: Bevacizumab alone or in combination with chemotherapy could be beneficial as a late-line therapy in a subset of patients with recurrent high-grade glioma. Small 2D tumor size in post-contrast T1 weighted MRI at bevacizumab initiation was independently associated with prolonged time to progression.


Assuntos
Neoplasias Encefálicas , Glioma , Humanos , Bevacizumab/uso terapêutico , Estudos Retrospectivos , Neoplasias Encefálicas/tratamento farmacológico , Anticorpos Monoclonais Humanizados/uso terapêutico , Glioma/tratamento farmacológico
3.
Acta Neurochir (Wien) ; 164(3): 737-742, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35029761

RESUMO

Posterior pituitary tumors (PPT) expressing thyroid transcription factor-1 (TTF-1) are extremely rare low-grade neoplasms. The recent discovery of BRAF mutations in these tumors offers a potential alternative treatment using targeted therapies. We present the case of a 57-year-old female with recurrent BRAFV600E-mutated TTF-1-positive PPT treated with a BRAF inhibitor monotherapy (dabrafenib) leading to tumor regression. After 18 months of uninterrupted treatment, ongoing radiological tumor regression was observed and the patient remained asymptomatic without any significant adverse event. BRAF inhibitor is potentially a valuable treatment option for recurrent TTF-1-positive PPT with BRAF mutation.


Assuntos
Neoplasias Hipofisárias , Proteínas Proto-Oncogênicas B-raf/genética , Feminino , Humanos , Imidazóis/uso terapêutico , Pessoa de Meia-Idade , Mutação/genética , Oximas/uso terapêutico , Neoplasias Hipofisárias/tratamento farmacológico , Neoplasias Hipofisárias/genética , Inibidores de Proteínas Quinases , Fator Nuclear 1 de Tireoide/metabolismo
4.
Neurogenetics ; 22(1): 95-101, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33394258

RESUMO

C19orf12 gene biallelic mutations lead mainly to neurodegeneration with brain iron accumulation-4. A 15-year-old male and his 17-year-old sister complained of cramps and exercise intolerance. Clinical examination of the boy mainly showed distal amyotrophy and mild weakness, while the sister predominantly had a tetrapyramidal syndrome. Widespread chronic neurogenic signs and hypointense signals on the striatum were present in both patients. Clinical exome sequencing identified, on both patients, the compound heterozygous pathogenic mutations c.204_214del p.(Gly69ArgfsTer10) and c.32C>T p.(Thr11Met). The description of these rare SPG43 and ALS-like phenotypes in the same family contributes to improve genotype-phenotype correlation in C19orf12-related diseases.


Assuntos
Esclerose Lateral Amiotrófica/genética , Heterozigoto , Proteínas Mitocondriais/genética , Mutação/genética , Adolescente , Esclerose Lateral Amiotrófica/diagnóstico , Encéfalo/patologia , Feminino , Humanos , Masculino , Fenótipo
5.
Front Neurol ; 13: 838192, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35265032

RESUMO

Introduction: Current guidelines suggest that perfusion imaging should only be performed > 6 h after symptom onset. Pathophysiologically, brain perfusion should matter whatever the elapsed time. We aimed to compare relative contribution of recanalization time and stroke core volume in predicting functional outcome in patients treated by endovascular thrombectomy within 6-h of stroke-onset. Methods: Consecutive patients presenting between January 2015 and June 2021 with (i) an acute ischaemic stroke due to an anterior proximal occlusion, (ii) a successful thrombectomy (TICI >2a) within 6-h of symptom-onset and (iii) CT perfusion imaging were included. Core stroke volume was automatically computed using RAPID software. Two linear regression models were built that included in the null hypothesis the pre-treatment NIHSS score and the hypoperfusion volume (Tmax > 6 s) as confounding variables and 24 h post-recanalization NIHSS and 90 days mRS as outcome variables. Time to recanalization was used as covariate in one model and stroke core volume as covariate in the other. Results: From a total of 377 thrombectomies, 94 matched selection criteria. The Model null hypothesis explained 37% of the variability for 24 h post-recanalization NIHSS and 42% of the variability for 90 days MRS. The core volume as covariate increased outcome variability prediction to 57 and 56%, respectively. Time to recanalization as covariate marginally increased outcome variability prediction from 37 and 34% to 40 and 42.6%, respectively. Conclusion: Core stroke volume better explains outcome variability in comparison to the time to recanalization in anterior large vessel occlusion stroke with successful thrombectomy done within 6 h of symptoms onset. Still, a large part of outcome variability prediction fails to be explained by the usual predictors.

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