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- Acidente Vascular Cerebral no Jovem e Déficit de Proteína SPublication . Gonçalves, M; Beirão, JOs autores descrevem o caso clínico de uma mulher de 33 anos, internada por hemiparésia direita e afasia global de instalação súbita, havendo referência a um episódio prévio de afasia global 7 anos antes, do qual recuperou sem sequelas. É referida a investigação complementar a que foi sujeita, especialmente vocacionada para o despiste das diversas causas de AVC no jovem. Discute-se a relação entre déficit de proteínas inibidoras da coagulação e patologia arterial, fazendo-se ainda uma breve referência à bibliografia existente sobre a matéria.
- Apolipoprotein E Polymorphism Interacts with Cigarette Smoking in Progression of Multiple SclerosisPublication . Sena, A; Couderc, R; Ferret-Sena, V; Pedrosa, R; Andrade, ML; Araujo, C; Roque, R; Cascais, MJ; Morais, MGBACKGROUND AND PURPOSE: The influence of apolipoprotein E (ApoE) polymorphism on clinical severity of multiple sclerosis (MS) is still controversial. Cigarette smoking has been suggested to influence the progression of disability in these patients. In this study, we aimed to investigate whether an interaction of smoking with the ApoE polymorphism influences the progression of disability in MS patients. METHODS: Smoking history from 205 female patients with MS was obtained. Clinical data collected include age at onset, disease duration, annual relapse rate, the Expanded Disability Status Scale (EDSS) and the Multiple Sclerosis Severity Score (MSSS). ApoE polymorphism was examined in all patients and stratified according to smoking status and associations with the clinical data investigated. RESULTS: There were no significant associations between cigarette smoking and any of the clinical characteristics in the whole group of patients. In women carrying the ApoE E4 isoform, smokers had a lower EDSS (P = 0.033) and MSSS (P = 0.023) in comparison with non-smokers. CONCLUSION: Our data suggest that in women with MS carrying the ApoE E4 isoform, cigarette smoking may have a protective influence on disease progression and accumulation of disability. These findings need to be confirmed by future large longitudinal studies.
- Aspectos Neuroquímicos da Doença de AlzheimerPublication . Almeida, R; Gonçalves, MA Doença de Alzheimer é uma das doenças neurodegenerativas progressivas mais graves, sendo frequente na população idosa. É responsável por um número significativo de casos de demência senil. Trata-se de um problema de saúde pública da maior importância, se tivermos em conta a tendência actual para o aumento significativo da longevidade da população mundial. Este artigo tem por objectivo rever as características neuroquímicas e histopatológicas da Doença de Alzheimer, bem como os mais recentes avanços terapêuticos nesta área.
- Basilar Artery Occlusion Management: Specialist Perspectives From an International SurveyPublication . Edwards, C; Drumm, B; Siegler, J; Schonewille, W; Klein, P; Huo, X; Chen, Y; Abdalkader, M; Qureshi, M; Strbian, D; Liu, X; Hu, W; Ji, X; Li, C; Fischer, U; Nagel, S; Puetz, V; Michel, P; Alemseged, F; Sacco, S; Yamagami, H; Yaghi, S; Strambo, D; Kristoffersen, E; Sandset, E; Mikulik, R; Tsivgoulis, G; Masoud, H; Aguiar de Sousa, D; Marto, JP; Lobotesis, K; Roi, D; Berberich, A; Demeestere, J; Meinel, T; Rivera, R; Poli, S; Ton, M; Zhu, Y; Li, F; Sang, H; Thomalla, G; Parsons, M; Campbell, B; Zaidat, O; Chen, HS; Field, T; Raymond, J; Kaesmacher, J; Nogueira, R; Jovin, T; Sun, D; Liu, R; Qureshi, A; Qiu, Z; Miao, Z; Banerjee, S; Nguyen, TBackground and purpose: Two early basilar artery occlusion (BAO) randomized controlled trials did not establish the superiority of endovascular thrombectomy (EVT) over medical management. While many providers continue to recommend EVT for acute BAO, perceptions of equipoise in randomizing patients with BAO to EVT versus medical management may differ between clinician specialties. Methods: We conducted an international survey (January 18, 2022 to March 31, 2022) regarding management strategies in acute BAO prior to the announcement of two trials indicating the superiority of EVT, and compared responses between interventionalists (INTs) and non-interventionalists (nINTs). Selection practices for routine EVT and perceptions of equipoise regarding randomizing to medical management based on neuroimaging and clinical features were compared between the two groups using descriptive statistics. Results: Among the 1245 respondents (nINTs = 702), INTs more commonly believed that EVT was superior to medical management in acute BAO (98.5% vs. 95.1%, p < .01). A similar proportion of INTs and nINTs responded that they would not randomize a patient with BAO to EVT (29.4% vs. 26.7%), or that they would only under specific clinical circumstances (p = .45). Among respondents who would recommend EVT for BAO, there was no difference in the maximum prestroke disability, minimum stroke severity, or infarct burden on computed tomography between the two groups (p > .05), although nINTs more commonly preferred perfusion imaging (24.2% vs. 19.7%, p = .04). Among respondents who indicated they would randomize to medical management, INTs were more likely to randomize when the National Institutes of Health Stroke Scale was ≥10 (15.9% vs. 6.9%, p < .01). Conclusions: Following the publication of two neutral clinical trials in BAO EVT, most stroke providers believed EVT to be superior to medical management in carefully selected patients, with most indicating they would not randomize a BAO patient to medical treatment. There were small differences in preference for advanced neuroimaging for patient selection, although these preferences were unsupported by clinical trial data at the time of the survey.
- Brachial Plexus Cyst in a Patient with Multifocal Motor NeuropathyPublication . Sousa, AP; Alves, P; Maia, B; Medeiros, L
- Breast Cancer Presents With a Paraneoplastic Neurologic SyndromePublication . Coelho Barata, P; Morgado, J; Sousa, AP; Duarte de Oliveira, S; Custódio, MP; Bruno da Costa, L; Esteves Pena, JBACKGROUND: Paraneoplastic neurologic syndromes (PNS) pose quite an uncommon neurological complication, affecting less than 1% of patients with breast cancer. Nearly one third of these patients lack detectable onconeural antibodies (ONAs), and improvement in neurologic deficits with concomitant cancer treatments is achieved in less than 30% of cases. CASE PRESENTATION: A 42-year-old, premenopausal woman presented with facial paralysis on the central left side accompanied by a left tongue deviation, an upward vertical nystagmus, moderate spastic paraparesis, dystonic posturing of the left foot, lower limb hyperreflexia and bilateral extensor plantar reflex. After ruling out all other potential neurologic causes, PNS was suspected but no ONAs were found. A PET-CT scan detected increased metabolism in the right breast, as well as an ipsilateral thoracic interpectoral adenopathy. Core biopsy confirmed the presence of an infiltrating duct carcinoma. After breast surgery, the neurologic symptoms disappeared. One week later, the patient was readmitted to the hospital with a bilateral fatigable eyelid ptosis, and two weeks later, there was a noticeable improvement in eyelid ptosis, accompanied by a rapid and progressive development of lower spastic paraparesis. She started adjuvant treatment with chemotherapy with marked clinical and neurological improvement, and by the end of radiotherapy, there were no signs of neurologic impairment. CONCLUSION: This case study highlights the importance of a high level of vigilance for the detection of PNS, even when ONAs are not detected, as the rapid identification and treatment of the underlying tumor offers the best chance for a full recovery.
- A Case of Trigeminal Malignant Melanotic Nerve Sheath Tumor in the Wide Spectrum of Melanotic and Nerve Sheath TumorsPublication . Rachão, A; Ferro, M; Roque, R; Rainha Campos, A; Pimentel, J
- Catatonia in Anti-N-Methyl-D-Aspartate (NMDA) Receptor Encephalitis Misdiagnosed as SchizophreniaPublication . Ponte, A; Brito, A; Nóbrega, C; Pinheiro, S; Gama Marques, JAnti-N-Mmethyl-D-aspartate receptor encephalitis is an autoimmune disease of the central nervous system with prominent neurologic and psychiatric features. Symptoms appear progressively and sometimes with an exclusively psychiatric initial presentation. The patient's evaluation should be meticulous, and we should use all the diagnostic tests required for the exclusion of entities that can mimic this disease. We report the diagnostic investigation of a case of anti-N-methyl-D-aspartate receptor encephalitis in a patient with a previous diagnosis of schizophrenia with poor response to antipsychotics. The aim of this case report is to highlight the importance of close surveillance for neuropsychiatric symptoms, especially catatonia, and to recognize autoimmune encephalitis in the differential diagnosis of psychotic disorders with neurological symptoms and resistance or intolerance to antipsychotics. A prompt diagnosis will contribute to a faster onset of therapy and an overall improvement in prognosis.
- Cerebrospinal Fluid Cytokines in Multiple System Atrophy: a Cross-Sectional Catalan MSA Registry StudyPublication . Compta, Y; Dias, S; Giraldo, D; Pérez-Soriano, A; Muñoz, E; Saura, J; Fernández, M; Bravo, P; Cámara, A; Pulido-Salgado, M; Painous, C; Ríos, J; Martí, MJIntroduction: Neuroinflammation is a potential player in neurodegenerative conditions, particularly the aggressive ones, such as multiple system atrophy (MSA). Previous reports on cytokine levels in MSA using serum or cerebrospinal fluid (CSF) have been inconsistent, including small samples and a limited number of cytokines, often without comparison to Parkinson's disease (PD), a main MSA differential diagnosis. Methods: Cross-sectional study of CSF levels of 38 cytokines using a multiplex assay in 73 participants: 39 MSA patients (19 with parkinsonian type [MSAp], 20 with cerebellar type [MSAc]; 31 probable, 8 possible), 19 PD patients and 15 neurologically unimpaired controls. None of the participants was under non-steroidal anti-inflammatory drugs at the time of the lumbar puncture. Results: There were not significant differences in sex and age among participants. In global non-parametric comparisons FDR-corrected for multiple comparisons, CSF levels of 5 cytokines (FGF-2, IL-10, MCP-3, IL-12p40, MDC) differed among the three groups. In pair-wise FDR-corrected non-parametric comparisons 12 cytokines (FGF-2, eotaxin, fractalkine, IFN-α2, IL-10, MCP-3, IL-12p40, MDC, IL-17, IL-7, MIP-1β, TNF-α) were significantly higher in MSA vs. non-MSA cases (PD + controls pooled together). Of these, MCP-3 and MDC were the most significant ones, also differed in MSA vs. PD, and were significant MSA-predictors in binary logistic regression models and ROC curves adjusted for age. CSF levels of fractalkine and MIP-1α showed a strong and significant positive correlation with UMSARS-2 scores. Conclusion: Increased CSF levels of cytokines such as MCP-3, MDC, fractalkine and MIP-1α deserve consideration as potential diagnostic or severity biomarkers of MSA.
- Cerebrospinal Fluid Sex Steroid Hormones in Bacterial MeningitisPublication . Dias, S; Brouwer, M; Boelen, A; van de Beek, DUnfavorable outcome in bacterial meningitis is related to excessive inflammation and higher inflammatory markers have been reported in female than in male patients. Sex steroid hormones have immunomodulatory properties and can be found in the cerebrospinal fluid (CSF); however, their actions have not been studied in bacterial meningitis. We investigated the association between CSF sex steroid hormone levels and inflammatory parameters, disease severity, and outcome in pneumococcal meningitis. We identified adults with culture-proven pneumococcal meningitis in a prospective cohort study (2006-2014). We measured estradiol and testosterone in CSF using liquid chromatography-tandem mass spectrometry and sex hormone-binding globulin (SHBG) using an enzyme-linked immunoassay. Hormone levels were compared according to outcome, which was graded using the Glasgow Outcome Scale (a score of 5 indicating favorable, 1-4 unfavorable outcome). Correlation analysis was used to measure the association between hormone levels and inflammatory cytokines, chemokines, and complement factors as well as severity of illness, as measured by the Glasgow Coma Scale and the Dutch Meningitis Risk Score. We included 60 patients: 20 men, 20 premenopausal (<50 years), and 20 postmenopausal (>50 years) women. Twenty-one (35%) patients had an unfavorable outcome and 11 (18%) died. Cases with an unfavorable outcome exhibited higher estradiol (median 14.0 vs 5.0 pmol/L, P = .04) and lower SHBG (0.40 vs 1.0 nmol/L, P = .03) levels compared with those with a favorable outcome. Estradiol was positively correlated with C-reactive protein (R = 0.42, P = .001), CSF protein (R = 0.33, P = .01), and proinflammatory cytokine levels. CSF concentrations of the sex steroid hormone estradiol were associated with outcome and CSF inflammation. Understanding the dose and time-dependent interaction between sex steroid hormones and the inflammatory response in bacterial meningitis represents an important and understudied topic.