Clinical Features of COVID-19 on Patients With Neuromyelitis Optica Spectrum Disorders.

BACKGROUND AND OBJECTIVES: To describe the clinical features and disease outcomes of coronavirus disease 2019 (COVID-19) in patients with neuromyelitis optica spectrum disorder (NMOSD). METHODS: The Neuroimmunology Brazilian Study Group has set up the report of severe acute respiratory syndrome (SARS-CoV2) cases in patients with NMOSD (pwNMOSD) using a designed web-based case report form. All neuroimmunology outpatient centers and individual neurologists were invited to register their patients across the country. Data collected between March 19 and July 25, 2020, were uploaded at the REDONE.br platform. Inclusion criteria were as follows: (1) NMOSD diagnosis according to the 2015 International Panel Criteria and (2) confirmed SARS-CoV2 infection (reverse transcription-polymerase chain reaction or serology) or clinical suspicion of COVID-19, diagnosed according to Center for Disease Control / Council of State and Territorial Epidemiologists (CDC/CSTE) case definition. Demographic and NMOSD-related clinical data, comorbidities, disease-modifying therapy (DMT), COVID-19 clinical features, and severity were described. RESULTS: Among the 2,061 pwNMOSD followed up by Brazilian neurologists involved on the registry of COVID-19 in pwNMOSD at the REDONE.br platform, 34 patients (29 women) aged 37 years (range 8-77), with disease onset at 31 years (range 4-69) and disease duration of 6 years (range 0.2-20.5), developed COVID-19 (18 confirmed and 16 probable cases). Most patients exhibited mild disease, being treated at home (77%); 4 patients required admission at intensive care units (severe cases); and 1 patient died. Five of 34 (15%) presented neurologic manifestations (relapse or pseudoexacerbation) during or after SARS-CoV2 infection. DISCUSSION: Most NMOSD patients with COVID-19 presented mild disease forms. However, pwNMOSD had much higher odds of hospitalization and intensive care unit admission comparing with the general Brazilian population. The frequency of death was not clearly different. NMOSD disability, DMT type, and comorbidities were not associated with COVID-19 outcome. SARS-CoV2 infection was demonstrated as a risk factor for NMOSD relapses. Collaborative studies using shared NMOSD data are needed to suitably define factors related to COVID-19 severity and neurologic manifestations.

Perceptions of Modulatory Factors in Migraine and Epilepsy: A Multicenter Study.

Background: Migraine and epilepsy are both common episodic disorders, typically precipitated or inhibited by some modulatory factors (MFs). Objective: To assess the self-perception of MFs in patients with migraine (PWM) compared to patients with epilepsy (PWE) with a standardized protocol in different countries. Methods: Transcultural multicenter comparative cross-sectional study. All consecutive patients who fulfilled the ICHD-3 criteria for migraine and ILAE's criteria for epilepsy, with at least 1 year of follow-up were interviewed with a semi-structured questionnaire on clinical and epidemiological data and were asked to identify all experienced MFs from a provided list. Results: A total of 608 individuals were surveyed at five university referral centers in Brazil, Guatemala, Lithuania and Turkey. Two hundred and nineteen (91.6%) PWM and 305 (82.7%) PWE identified attack precipitating factors (PFs; p < 0.001). The most frequent three PFs reported by epilepsy patients were: "lack of sleep" (56.6%), "emotional stress" (55.3%), "negative feelings" (53.9%), while among migraine patients "emotional stress" (81.6%), "lack of sleep" (77.8%), "negative feelings" (75.7%) were cited. Inhibitory factors (IFs) for the episodes were reported by 68 (28.5%) PWM and 116 (31.4%) PWE. "Darkness" was the most common one, described by 35.6% of PWM whereas "positive feelings" reported by 10.6% of PWE. Most MFs are concordant across the countries but some transcultural differences were noted. Conclusion: The MFs of migraine and epilepsy attacks and their varying frequencies according to different countries were investigated with the same standardized questionnaire, for the first time. MFs were recognized very often in both migraine and epilepsy cohorts, but in distinct disease-specific prevalence, being more frequent in migraine. Recognition of self-perceived MFs may be helpful for the management of both illnesses.

Faux Pas Recognition Test: transcultural adaptation and evaluation of its psychometric properties in Brazil.

Introduction: Many neuropsychiatric and neurodegenerative disorders produce Theory of Mind impairment. We aimed to implement a Brazilian Portuguese version of the Faux Pas Recognition Test (FPRT) and evaluate its psychometric properties.Methods: We first completed an English-Brazilian Portuguese translation and adaptation to obtain an FPRT Brazilian Portuguese version. We performed a multicentric study with 153 healthy participants (68.6% women), mean age of 38.8 years (SD = 14.6) and 12.9 years of schooling (SD = 4.5). Linear regression analysis was performed to evaluate the association of social class, age, schooling, and FPRT scores. The psychometric analyses comprised item analysis, exploratory factor analysis, reliability, and validity analysis.Results: Normative data in a Brazilian population is presented. A positive correlation of scores with years of schooling, social class, and an inverse relation with age was found. The exploratory factorial analysis found a two-component structure, one component, consisting of questions 1 through 6 (Eigenvalue 5.325) and another component, consisting of questions 7 and 8 (Eigenvalue 1.09). Cronbach's alpha of the 20 stories was .72. All control stories had a poor discriminative index.Conclusion: The FPRT Brazilian Portuguese version demonstrated good internal consistency and, psychometric properties and is adequate for use even in lower educational contexts in Brazil.

Parkinson Disease and Occupational and Environmental Exposure to Pesticides in a Region of Intense Agribusiness Activity in Brazil: A Case-Control Study.

OBJECTIVE: To evaluate the relationship between occupational and environmental exposure to pesticides and Parkinson disease in a region of intense agribusiness activity in the state of Mato Grosso/Brazil. METHODS: Case-control study carried out in a referral hospital for chronic neurodegenerative diseases. Non-conditional logistic regression analyses were performed. RESULTS: Having performed direct management of pesticides in the workplace (odds ratio [OR]: 3.43; 95% confidence interval [CI]: 1.55 to 7.28), having a family history of Parkinson (OR: 3.42; 95% CI: 1.61 to 7.28) and being men (OR: 3.01; 95% CI: 1.66 to 5.45) were all factors that contributed to a greater chance for the development of the disease. CONCLUSION: Our study reinforces the associations between occupational and environmental exposure to pesticides and the occurrence of Parkinson disease in regions of intense agribusiness activity in Brazil.

Self-reported adherence among people with epilepsy in Brazil.

BACKGROUND: Nonadherence rates among people with epilepsy (PWE) are widely variable, ranging from 26% to 95.4%. We aimed to identify nonadherence in Brazil, its determinant factors, its impact on patients' management, and to compare it with other chronic nonparoxysmal diseases. METHODS: A multicenter observational case-control study was conducted between March 2015 and October 2016, and 153 subjects were included. Subjects' clinical-epidemiological data were surveyed with the Morisky-Green test (MGT), Brief Medication Questionnaire (BMQ), and the Liverpool adverse events profile (LAEP). RESULTS: One hundred three PWE and 50 controls with other, nonparoxysmal chronic conditions were interviewed; both groups were matched according to age and socioeducational level. People with epilepsy were aged 36.4 ±â€¯13.9 (range 18-67), 55% were women, mean age at epilepsy onset was 18.1 ±â€¯15.5 years, 51.5% had pharmacoresistant epilepsy, and 48.5% were on monotherapy. 74.8% of patients and 70.0% controls were nonadherent to treatment according to MGT (p = 0.58); and barrier of recall (BMQ) was associated with nonadherence in 78% of PWE and 76% of controls (p = 0.84). Binary logistic regression analysis revealed LAEP (OR 1.05; 95%CI = 1.01-1.09; p = 0.03) and self-reported frequency of forgetfulness on the last three months (OR 19.13; 95%CI = 2.40-152.28; p < 0.01) as the main factors associated with nonadherence. Nonadherent subjects did not have more seizures and did not need emergency treatment more often than adherent ones. CONCLUSION: Three of four PWE were not fully adherent to their treatment. Adherence assessment should be routine in all outpatient visits as well as interventions aimed to improving it. Adverse events are important predictors of adherence, and they should be considered when choosing the initial treatment of epilepsy.

Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease / Diretriz para o diagnóstico, tratamento e acompanhamento clínico de pacientes com doença de Pompe juvenil e do adulto

ABSTRACT Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L’Hotel Port Bay in São Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views.

RESUMO A doença de Pompe (DP) é uma doença grave, potencialmente letal, devida ao depósito de glicogênio na fibra muscular e ativação de vias autofágicas. Tratamento promissor para a DP é a reposição enzimática com a enzima recombinante humana alfa-glicosidase ácida (rhAGA -Myozyme®). A necessidade de organizar uma propedêutica diagnóstica, sistematizar o seguimento clínico e sedimentar as novas recomendações terapêuticas tornaram-se vitais à medida que o tratamento permite uma maior longevidade aos pacientes. Uma força-tarefa de clínicos experientes no manejo da DP foi constituída para elaborar um protocolo para o diagnóstico, acompanhamento clínico, tratamento, aconselhamento genético, entre outras considerações voltadas ao paciente adulto. O estudo foi realizado sob a coordenação da Rede Brasileira de Estudos da Doença de Pompe (REBREPOM). Diante da raridade da DP e escassez de trabalhos de alto impacto de evidência científica, os especialistas emitiram suas opiniões.

Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease.

Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L'Hotel Port Bay in São Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views.

Central Nervous System Idiopathic Inflammatory Demyelinating Disorders in South Americans: A Descriptive, Multicenter, Cross-Sectional Study.

The idiopathic inflammatory demyelinating disease (IIDD) spectrum has been investigated among different populations, and the results have indicated a low relative frequency of neuromyelitis optica (NMO) among multiple sclerosis (MS) cases in whites (1.2%-1.5%), increasing in Mestizos (8%) and Africans (15.4%-27.5%) living in areas of low MS prevalence. South America (SA) was colonized by Europeans from the Iberian Peninsula, and their miscegenation with natives and Africans slaves resulted in significant racial mixing. The current study analyzed the IIDD spectrum in SA after accounting for the ethnic heterogeneity of its population. A cross-sectional multicenter study was performed. Only individuals followed in 2011 with a confirmed diagnosis of IIDD using new diagnostic criteria were considered eligible. Patients' demographic, clinical and laboratory data were collected. In all, 1,917 individuals from 22 MS centers were included (73.7% female, 63.0% white, 28.0% African, 7.0% Mestizo, and 0.2% Asian). The main disease categories and their associated frequencies were MS (76.9%), NMO (11.8%), other NMO syndromes (6.5%), CIS (3.5%), ADEM (1.0%), and acute encephalopathy (0.4%). Females predominated in all main categories. The white ethnicity also predominated, except in NMO. Except in ADEM, the disease onset occurred between 20 and 39 years old, early onset in 8.2% of all cases, and late onset occurred in 8.9%. The long-term morbidity after a mean disease time of 9.28±7.7 years was characterized by mild disability in all categories except in NMO, which was scored as moderate. Disease time among those with MS was positively correlated with the expanded disability status scale (EDSS) score (r=0.374; p=<0.001). This correlation was not observed in people with NMO or those with other NMO spectrum disorders (NMOSDs). Among patients with NMO, 83.2% showed a relapsing-remitting course, and 16.8% showed a monophasic course. The NMO-IgG antibody tested using indirect immunofluorescence (IIF) with a composite substrate of mouse tissues in 200 NMOSD cases was positive in people with NMO (95/162; 58.6%), longitudinally extensive transverse myelitis (10/30; 33.3%) and bilateral or recurrent optic neuritis (8/8; 100%). No association of NMO-IgG antibody positivity was found with gender, age at onset, ethnicity, early or late onset forms, disease course, or long-term severe disability. The relative frequency of NMO among relapsing-remitting MS (RRMS) + NMO cases in SA was 14.0%. Despite the high degree of miscegenation found in SA, MS affects three quarters of all patients with IIDD, mainly white young women who share similar clinical characteristics to those in Western populations in the northern hemisphere, with the exception of ethnicity; approximately one-third of all cases occur among non-white individuals. At the last assessment, the majority of RRMS patients showed mild disability, and the risk for secondary progression was significantly superior among those of African ethnicity. NMO comprises 11.8% of all IIDD cases in SA, affecting mostly young African-Brazilian women, evolving with a recurrent course and causing moderate or severe disability in both ethnic groups. The South-North gradient with increasing NMO and non-white individuals from Argentina, Paraguay, Brazil and Venezuela confirmed previous studies showing a higher frequency of NMO among non-white populations.

Prevalência de Doenças Neurológicas em Uma Região Rural do Brasil / Frequency of Neurological Diseases in a Rural Region of Brazil

The World Health Organization recommends identifying the most prevalent diseases in each developing country or region to promote the optimal use of health services. Few studies have analysed the prevalence of neurological diseases in developing countries, especially in tropical regions. This study aims to describe neurological syndromes and tropical neurological diseases encountered in the mid-northern Mato Grosso region of Brazil. This study represents a retrospective, descriptive evaluation of the demographic and clinical data of patients 15 years old above living in the region and analyzing information regarding neurological diagnoses identified in the sample. In 2008, 1,402 patients were referred to neurological consultations. The mean age of the adults was 38 years; the study included slightly more women (52.2%) than men. The most common syndromes were headaches (32.2%) and epilepsy (16.3%). No tropical disease was found in our sample, and according to sanitary authorities, the number of related notifications was lower than the expected for a tropical region. The present study is the only study conducted to date in a rural region of Brazil using outpatient evaluations to define the frequency of neurological diseases. The prevalence of tropical diseases in this region is lower than the expected.

A Organização Mundial de Saúde - OMS recomenda a identificação das doenças mais prevalentes nos países ou regiões em desenvolvimento, a fim de promover melhorias direcionadas nos serviços de saúde locais. Poucos estudos analisam prevalência de doenças neurológicas em países em desenvolvimento, especialmente em regiões tropicais. Este artigo descreve síndromes neurológicas e doenças neurológicas tropicais identificadas na região do Médio Norte de Mato Grosso, Brasil. Trata-se de estudo retrospectivo descritivo, analisando dados clínicos e demográficos de pacientes com mais de 15 anos de idade que moram na região, assim como os diagnósticos neurológicos identificadas na amostra. Em 2008,1,402 pacientes foram encaminhados a consulta neurológica, sendo a média de idade de 38 anos com leve predomínio do sexo feminino (52.2%). Síndromes neurológicas mais frequentes foram cefaleia (32.2%) e epilepsia (16.3%). Nenhuma doença neurológica tropical foi identificada na amostra e, de acordo com dados oficiais da vigilância sanitária local, a notificação destas foi abaixo do esperado para uma área de clima tropical. O presente estudo é a única publicação brasileira com dados coletados em área rural no Brasil, utilizando pacientes acompanhados em ambulatório de neurologia, para definir a frequência de doenças neurológicas, que estão abaixo das taxas esperadas para a região.