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1.
Neuroophthalmology ; 48(4): 304-308, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38933753

RESUMO

Isolated paresis of the inferior rectus muscle (IRM) represents a rare occurrence. This case report involves a young adult male who, abruptly during a Valsalva maneuver, encountered acute vertical diplopia due to right IRM paresis, resolving spontaneously within a few hours. The patient presented without identifiable risk factors, and magnetic resonance imaging revealed a minor left thalamic ischemic lesion. A cardiac study identified the presence of a patent foramen ovale, potentially associated with a paradoxical embolism, indicating its likely role in this transient ischemic event.

3.
Neurohospitalist ; 13(3): 266-271, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37441211

RESUMO

Tenecteplase (TNK) is a fibrinolytic drug that is administrated in a single bolus, recommended in eligible patients with acute ischemic stroke prior to mechanical thrombectomy. This study explores its usefulness in adverse situations, such as the SARS-CoV-2 pandemic. We conducted a retrospective study involving consecutive patients with suspected acute ischemic stroke treated either with intravenous fibrinolysis with alteplase during 2019 or with TNK (.25 mg/kg) between March 2020 and February 2021. A comparative analysis was made to compare patient treatment times and prognosis. A total of 117 patients treated with alteplase and 92 with TNK were included. No significant differences were observed in age, main vascular risk factors or previous treatments. The median National Institutes of Health Stroke Scale was 8 in the alteplase group and 10 in those treated with TNK (P = .13). Combined treatment with mechanical thrombectomy was performed in 47% in the alteplase group and 46.7% in the TNK group; Thrombolysis In Cerebral Infarction scale 2b-3 recanalization was achieved in 83% and 90.7%, respectively (P = .30). There was a decrease in onset-to-needle median time (165 min vs 140 min, P < .01) and no significant variations in door-needle median time. There was no significant difference in the incidence of symptomatic hemorrhagic transformation in mortality or functional independence at 3 months. The easier administration of TNK has improved the accessibility of fibrinolytic therapy, even in adverse circumstances, such as the COVID-19 pandemic. Its use appears to be safe and effective, even in patients who are not candidates for mechanical thrombectomy.

4.
Eur J Med Genet ; 65(8): 104539, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35705147

RESUMO

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an autosomal recessive vascular disorder caused by biallellic variants in HTRA1. Recently, it has been reported that several heterozygous mutations in HTRA1 are responsible for a milder late-onset cerebral small vessel disease (CSVD) with an autosomal dominant pattern of inheritance. The majority of them are missense that affects the Htr1A protease activity due to a dominant-negative effect caused by defective trimerization or monomer activation. The molecular mechanism related to the structural destabilization of the protein supports the practical utility of integrating computational stability predictors to prioritize candidate variants in this gene. In this work, we report a family with several members diagnosed with subcortical ischemic events and progressive cognitive impairment caused by the novel c.820C > G, p.(Arg274Gly) heterozygous variant in HTRA1 segregating in an autosomal dominant manner and propose its molecular mechanism by a three-dimensional model of the protein's structure.


Assuntos
Doenças de Pequenos Vasos Cerebrais , Transtornos Cerebrovasculares , Leucoencefalopatias , Doenças de Pequenos Vasos Cerebrais/genética , Serina Peptidase 1 de Requerimento de Alta Temperatura A/genética , Serina Peptidase 1 de Requerimento de Alta Temperatura A/metabolismo , Humanos , Leucoencefalopatias/genética , Mutação , Estabilidade Proteica , Serina Endopeptidases/genética
6.
J Neuroimaging ; 25(6): 1056-8, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25702932

RESUMO

A 41-year-old male presented with an acute onset of headache, confusion, seizures, and unilateral focal neurological deficit 25 years after receiving whole-brain radiation therapy to treat a cerebellar medulloblastoma. Brain magnetic resonance imaging (MRI) demonstrated a thick unilateral parieto-occipital cortical contrast enhancement. A diagnosis of "Stroke-like Migraine Attacks after Radiation Therapy" (SMART) syndrome was made. Here, we describe the brain MR spectroscopy findings of SMART, showing a decrease in N-acetyl-aspartate and increased levels of creatine and choline, corresponding with neuronal destruction or transient neuronal impairment with mild nonspecific gliosis. The absence of a lactate peak suggests that mitochondrial dysfunction, vasospasm or ischemic mechanisms were not involved.


Assuntos
Encéfalo/diagnóstico por imagem , Transtornos de Enxaqueca/diagnóstico por imagem , Radioterapia/efeitos adversos , Adulto , Neoplasias Cerebelares/radioterapia , Humanos , Espectroscopia de Ressonância Magnética , Masculino , Meduloblastoma/radioterapia , Transtornos de Enxaqueca/etiologia
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