Juvenile myoclonic epilepsy refractory to treatment in a tertiary referral center.

INTRODUCTION: Juvenile myoclonic epilepsy (JME) is an epileptic syndrome often regarded as one in which seizures are relatively easy to control. Individuals with JME, however, often require lifelong therapy to remain seizure-free, and a few have refractory epilepsy. We ascertained a population with JME and characterized a subgroup with refractory epilepsy. MATERIAL AND METHODS: We audited and reviewed clinical records of individuals diagnosed with JME identified via a sample of 6600 individuals in a clinical database from a specialized epilepsy clinic at a tertiary referral center. RESULTS: We identified 240 people with a diagnosis of JME (146 females), with a mean age at seizure onset of 14.2years (SD: 4.5), and a mean age at diagnosis of 15.6years (SD: 4.9). Clinical phenotypes seen were classic JME phenotype (88%), childhood absence epilepsy evolving into JME (6%), JME with adolescent absences (4%), and JME with astatic seizures (2%). More than a quarter (28%) had a family history of epilepsy. The most commonly used antiepileptic drug (AED) was sodium valproate in 78% of individuals, followed by levetiracetam (64%) and lamotrigine (55%). In the previous year, 47.5% were seizure-free. Using the International League against Epilepsy (ILAE) definitions and considering National Institute for Health and Care Excellence (NICE)-recommended AEDs for this syndrome, 121 individuals (50.4%) were identified as having refractory epilepsy. DISCUSSION: Juvenile myoclonic epilepsy is often regarded as a benign epileptic syndrome, but in this setting, half of the individuals with JME have refractory epilepsy with only about a quarter of those seizure-free in the previous year. Despite some advances in the understanding of this syndrome, there is still much to do before we can offer all the best outcomes.

Intracranial Internal Carotid Artery Wall Calcification in Ischemic Strokes Treated with Thrombolysis.

BACKGROUND: Calcifications are an important element of atherosclerotic plaques and have been used as a marker of atherosclerosis and clinical outcome predictor in different vascular territories. CT-scan, performed in the acute ischemic stroke setting, can reliably detect intracranial arterial calcifications. OBJECTIVES: To investigate the association between intracranial internal carotid artery calcification and functional outcome, symptomatic intracerebral hemorrhage (sICH), recanalization, and death. METHODS: We included 396 consecutive ischemic stroke patients submitted to recombinant tissue plasminogen activator treatment between January 2011 and September 2014. Admission CT-scans were reviewed to calculate the Total Carotid Syphon Calcification score. Patients were followed for up to at least 6 months post-stroke or until death. Outcome measures included evaluation of recanalization on the first 24 h (transcranial color coded Doppler or angio-CT), sICH, and assessment of functional outcome at 3 months after stroke (using modified Rankin scale). RESULTS: Carotid artery wall calcification did not predict sICH, recanalization or any good outcome. However, it was a statistically significant predictor of death (OR 1.102, 95% CI [1.004-1.211], p = 0.042). DISCUSSION: Intracranial carotid artery calcification does not increase the risk of thrombolysis-induced sICH. Patients with higher grade of carotid artery wall calcification may have a higher mortality rate.

Dyschromatopsia in Multiple Sclerosis Patients: A Marker of Subclinical Involvement?

BACKGROUND: In multiple sclerosis (MS), even in the absence of a clinical episode of optic neuritis (ON), the optic nerve and retinal nerve fiber layer (RNFL) may be damaged leading to dyschromatopsia. Subclinical dyschromatopsia has been described in MS associated with lower motor and cognitive performances. OBJECTIVES: To set the prevalence of dyschromatopsia in eyes of MS patients without a history of ON, to compare its prevalence in patients with and without ON history, and to explore the association between dyschromatopsia and disease duration, average peripapillary RNFL thickness, macular volume, and cognitive and motor performances. METHODS: An observational cross-sectional study was conducted at multiple medical centers. Data were collected after single neurological and ophthalmological evaluations. Dyschromatopsia was defined by the presence of at least 1 error using Hardy-Rand-Rittler plates. RESULTS: In our population of 125 patients, 79 patients (63.2%) never had ON and 35 (28.8%) had unilateral ON. The prevalence of dyschromatopsia in eyes of patients without ON was 25.7%. Patients with dyschromatopsia had a statistically significant lower RNFL thickness (P = 0.004 and P = 0.040, right and left eyes, respectively) and worse performance in symbol digit modalities test (P = 0.012). No differences were found in macular volume or motor function tasks. CONCLUSIONS: Dyschromatopsia occurs frequently in MS patients. It may be associated with a worse disease status and possibly serve as a marker for the detection of subclinical disease progression since it was detected even in the absence of ON. It correlated with thinner peripapillary RNFL thickness and inferior cognitive performance.

Seroconversion rate following HBV vaccination in clinical practice: The role of age and DMT treatment.

HBV screening and immunization is recommended in all MS patients and is mandatory before the start of some DMT. However, studies evaluating the immune response to HBV vaccine in MS patients are scarce. We aimed to evaluate the seroprotection rate following HBV immunization in MS patients and to assess if older age and DMT-treatment influenced seroprotection. We conducted a cohort study between 2016 and 2020 and compared the immune response to HBV vaccine in MS patients under different DMTs and in patients 50 years old or younger and older than 50. We found that patients under non-injectable DMT presented lower rates of seroprotection comparing to patients under injectable DMT's or without treatment. In patients older than 50, although the seroprotection rate was similar to the remaining patients, the antibody anti-HBV surface antigen titers following HBV immunization were lower and patients were more likely to require a 4th dose of the vaccine to achieve seroprotection. Our findings highlight to need to consider HBV immunization in MS patients early in the disease course, in order to ensure a proper immune response to the vaccine.

Real-Word Effectiveness and Safety of Dimethyl Fumarate in a Multiple Sclerosis Portuguese Population.

OBJECTIVES: The aim of this study was to evaluate postmarketing dimethyl fumarate (DMF) safety and effectiveness in a real-world population with relapsing-remitting multiple sclerosis (RRMS). METHODS: This was a retrospective, single-center study with RRMS patients treated with DMF. Demographic, clinical, and imagiological characteristics were analyzed, including annualized relapse rate (ARR), Expanded Disability Status Scale, "No Evidence of Disease Activity 3," previous treatment, adverse events, treatment duration, and reason for discontinuation. We investigated which baseline variables were associated with clinical and radiological outcomes. RESULTS: We included 176 patients (70.4% females) with a median on-treatment follow-up time of 25.5 months. In total, 139 patients received prior disease-modifying therapies, and 37 were treatment-naive. Annualized relapse rate decreased by 77.1% in the total population (P < 0.001) and also decreased in the naive, tolerability switch, and efficacy switch groups by 95.8%, 56.7%, and 76.6% (P < 0.001). No Evidence of Disease Activity 3 status after 12 months of DMF treatment was maintained in 69.2% patients. Thirty patients (17%) discontinued treatment because of adverse drug reactions, and 21 (11.9%) because of lack of effectiveness. The occurrence of first relapse during follow-up was associated with higher ARR in the year before DMF start (hazard ratio, 4.833; P < 0.001) and prior exposure to multiple sclerosis treatments (tolerability and efficacy switchers). CONCLUSIONS: In this real-world audit, DMF appeared to be effective and safe for RRMS. Additionally, the study suggested that naive patients strongly benefit from DMF, and DMF also improves ARR in patients who switched from injectable therapies due to tolerability and efficacy issues.

[Aphasia Rapid Test: Translation, Adaptation and Validation Studies for the Portuguese Population]. / Aphasia Rapid Test: Estudos de Tradução, Adaptação e Validação para a População Portuguesa.

INTRODUCTION: Classical aphasia evaluation scales are too long to use in the context of acute stroke or as a monitoring tool. The Aphasia Rapid Test is a 26-point scale developed as a bedside assessment to rate aphasia severity in acute stroke patients in less than 3 minutes. We aimed to adapt and validate this scale for European Portuguese. MATERIAL AND METHODS: We evaluated 56 acute stroke patients in the first and in the seventh days post-stroke. In the seventh day, patients were evaluated by two independent raters, to evaluate inter-rater agreement. To study concurrent validity, the Lisbon Aphasia Examination Battery was applied to a subset of 20 patients. The predictive ability of the Aphasia Rapid Test was assessed at six months, by the aphasia subscale of the National Institutes of Health Stroke Scale. RESULTS: Translation to European Portuguese was based in the French and English versions, considering the words' utilization frequency. The Chronbach's alpha was 0.796. The concordance coefficient between the two raters was excellent (0.985). Correlation between Aphasia Rapid Test and the Lisbon Aphasia Examination Battery was strong (r = -0.958, p < 0.001). The study through Bland-Altman graphs corroborated the good inter-rater agreement and concurrent validity of the test. The Aphasia Rapid Test score in the first day is an independent predictor of long-term outcome. DISCUSSION: This study provides reliable results for European Portuguese, with adequate internal consistency, inter-rater agreement and concurrent validity. CONCLUSION: The Aphasia Rapid Test is a good tool for the evaluation and monitoring of aphasia in stroke patients.

Introdução: As baterias clássicas de caracterização de afasia são demasiado longas para serem utilizadas no contexto do acidente vascular cerebral agudo ou como ferramenta de monitorização. O Aphasia Rapid Test é uma escala de 26 pontos desenvolvida como teste de cabeceira para avaliar a gravidade da afasia num doente com acidente vascular cerebral em menos de três minutos. O objetivo do estudo é adaptar e validar a escala para o português europeu. Material e Métodos: Foram avaliados 56 doentes com acidente vascular cerebral no primeiro e sétimo dia pós-acidente vascular cerebral. Ao sétimo dia, foram avaliados por dois avaliadores independentes para avaliar o acordo interavaliadores. Para estudar a validade concorrente, a 20 doentes foi aplicada também a Bateria de Avaliação de Afasias de Lisboa. A capacidade preditiva do Aphasia Rapid Test foi avaliada aos seis meses, através do valor da subescala de afasia do National Institutes of Health Stroke Scale. Resultados: A tradução para o português europeu baseou-se nas versões francesa e inglesa, respeitando a frequência de utilização das palavras. O α de Cronbach foi de 0,796. O coeficiente de concordância entre examinadores foi excelente (0,985). A correlação entre o Aphasia Rapid Test e a Bateria de Avaliação de Afasias de Lisboa é forte (r = -0,958, p < 0,001). Os gráficos de Bland-Altman corroboram as boas concordâncias interavaliadores e validade concorrente. O Aphasia Rapid Test no primeiro dia é preditor independente do resultado a longo prazo. Discussão: Este estudo apresenta resultados confiáveis para o português europeu, com valores de consistência interna, concordância interavaliadores e validade concorrente adequados. Conclusão: O Aphasia Rapid Test é um bom instrumento para avaliação e monitorização da afasia em doentes com acidente vascular cerebral.

Acute Onset Neurological Disorders during Pregnancy: A Literature Review.

Objectives To characterize the most common peripheral and central neurological disorders during pregnancy. Methods Original research and review of the literature on neurological complications during pregnancy. We searched for keywords related to the topic on different databases. Results Pregnancy involves physiological changes that can trigger peripheral neurological and/or central nervous system pathologies, which can sometimes be associated with hypertensive disorders. A definitive diagnosis of neurological disorders can be made according to the trimester of pregnancy and the clinical findings. Carpal tunnel syndrome and peripheral facial palsy are common peripheral neurological disorders, more frequent in the second half of pregnancy. Central nervous disorders are more complex and a precise diagnosis must be made in order to improve perinatal outcomes, provide correct management and treatment and to prevent acute and long-term complications. Conclusions It is possible to achieve a precise diagnosis, management and treatment of neurological disorders during pregnancy, but these require a multidisciplinary approach, crucial to improve perinatal outcomes.

Objetivos Caracterizar as alterações neurológicas centrais e periféricas mais comuns durante a gravidez. Métodos Foi efetuada uma revisão da literatura acerca de complicações neurológicas durante a gravidez. Foram utilizadas diversas bases de dados usando palavras-chave relacionadas com o tema. Resultados A gravidez envolve alterações fisiológicas que podem desencadear alterações neurológicas periféricas e/ou do sistema nervoso central, por vezes associadas a distúrbios hipertensivos. Um diagnóstico definitivo pode ser feito tendo em conta o trimestre de gravidez e os achados clínicos encontrados. A síndrome do túnel carpal e a paralisia facial periférica são alterações neurológicas periféricas comuns que ocorrem mais frequentemente na segunda metade da gravidez. As alterações em termos do sistema nervoso central são mais complexas. Um diagnóstico preciso é fulcral, não só para melhorar os desfechos perinatais, mas também para efetuar uma vigilância e tratamento adequados e para prevenir complicações agudas e a longo prazo. Conclusões Um diagnóstico preciso e um acompanhamento e tratamento apropriados dos distúrbios neurológicos durante a gravidez são ações exequíveis. Contudo, requerem uma abordagem multidisciplinar, crucial para melhorar os desfechos perinatais.

Extensive intracranial involvement with multiple dissections in a case of giant cell arteritis.

A 56-year-old man presented with weight loss, articular pain and minor neurological symptoms progressing over 1 month. Neurosonological evaluation suggested occlusion in intracranial segments of the left vertebral artery (VA) and of both internal carotid arteries (ICA) and hypoechoic halo sign in both superficial temporal arteries. The diagnosis of giant cell arteritis was supported by inflammatory markers and confirmed by biopsy. Despite early steroid initiation, he manifested fluctuant vascular deficits and became lethargic. Brain MRI indicated watershed infarcts and intracranial dissections of left VA and both ICA. The patient was stabilised with the association of prednisolone 2 mg/kg, methotrexate and oral anticoagulation. Since then he has been neurologically asymptomatic and control imaging showed only residual intracranial left VA stenosis, with no signs of temporal artery inflammation or new vascular lesions. This is to the best of our knowledge, the first reported clinical case with such an extensive intracranial involvement with multiple dissections.

Acute Onset Neurological Disorders during Pregnancy: A Literature Review / Doenças neurológicas de início durante a gravidez: análise crítica da literatura

Abstract Objectives To characterize the most common peripheral and central neurological disorders during pregnancy. Methods Original research and review of the literature on neurological complications during pregnancy. We searched for keywords related to the topic on different databases. Results Pregnancy involves physiological changes that can trigger peripheral neurological and/or central nervous system pathologies, which can sometimes be associated with hypertensive disorders. A definitive diagnosis of neurological disorders can be made according to the trimester of pregnancy and the clinical findings. Carpal tunnel syndrome and peripheral facial palsy are common peripheral neurological disorders, more frequent in the second half of pregnancy. Central nervous disorders are more complex and a precise diagnosis must be made in order to improve perinatal outcomes, provide correct management and treatment and to prevent acute and long-term complications. Conclusions It is possible to achieve a precise diagnosis,management and treatment of neurological disorders during pregnancy, but these require a multidisciplinary approach, crucial to improve perinatal outcomes.

Resumo Objetivos Caracterizar as alterações neurológicas centrais e periféricas mais comuns durante a gravidez. Métodos Foi efetuada uma revisão da literatura acerca de complicações neurológicas durante a gravidez. Foram utilizadas diversas bases de dados usando palavras-chave relacionadas com o tema. Resultados A gravidez envolve alterações fisiológicas que podem desencadear alterações neurológicas periféricas e/ou do sistema nervoso central, por vezes associadas a distúrbios hipertensivos. Um diagnóstico definitivo pode ser feito tendo em conta o trimestre de gravidez e os achados clínicos encontrados. A síndrome do túnel carpal e a paralisia facial periférica são alterações neurológicas periféricas comuns que ocorrem mais frequentemente na segunda metade da gravidez. As alterações em termos do sistema nervoso central são mais complexas. Um diagnóstico preciso é fulcral, não só para melhorar os desfechos perinatais, mas também para efetuar uma vigilância e tratamento adequados e para prevenir complicações agudas e a longo prazo. Conclusões Um diagnóstico preciso e um acompanhamento e tratamento apropriados dos distúrbios neurológicos durante a gravidez são ações exequíveis. Contudo, requerem uma abordagem multidisciplinar, crucial para melhorar os desfechos perinatais.