Denise Sisterolli Diniz’s research while affiliated with Federal University of Goiás and other places

Background Autoimmune encephalitis (AIE) is a group of inflammatory diseases characterized by the presence of antibodies against neuronal and glial antigens, leading to subacute psychiatric symptoms, memory complaints, and movement disorders. The patients are predominantly young, and delays in treatment are associated with worse prognosis. Objective With the support of the Brazilian Academy of Neurology (Academia Brasileira de Neurologia, ABN) and the Brazilian Society of Child Neurology (Sociedade Brasileira de Neurologia Infantil, SBNI), a consensus on the diagnosis and treatment of AIE in Brazil was developed using the Delphi method. Methods A total of 25 panelists, including adult and child neurologists, participated in the study. Results The panelists agreed that patients fulfilling criteria for possible AIE should be screened for antineuronal antibodies in the serum and cerebrospinal fluid (CSF) using the tissue-based assay (TBA) and cell-based assay (CBA) techniques. Children should also be screened for anti-myelin oligodendrocyte glucoprotein antibodies (anti-MOG). Treatment should be started within the first 4 weeks of symptoms. The first-line option is methylprednisolone plus intravenous immunoglobulin (IVIG) or plasmapheresis, the second-line includes rituximab and/or cyclophosphamide, while third-line treatment options are bortezomib and tocilizumab. Most seizures in AIE are symptomatic, and antiseizure medications may be weaned after the acute stage. In anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis, the panelists have agreed that oral immunosuppressant agents should not be used. Patients should be evaluated at the acute and postacute stages using functional and cognitive scales, such as the Mini-Mental State Examination (MMSE), the Montreal Cognitive Assessment (MoCA), the Modified Rankin Scale (mRS), and the Clinical Assessment Scale in Autoimmune Encephalitis (CASE). Conclusion The present study provides tangible evidence for the effective management of AIE patients within the Brazilian healthcare system.

Introdução: Os sintomas neuropsiquiátricos devidos a doenças autoimunes cerebrais são cada vez mais reconhecidos e relatados. Objetivos: Nós objetivamos fornecer uma revisão da encefalopatia autoimune, como um modelo de sintomas neuropsiquiátricos diretamente relacionados a um processo autoimune, que seja útil para a prática psiquiátrica. Métodos: Trata-se de uma revisão narrativa, adequada para retratar o estado de arte e atualização do conhecimento sobre as manifestações psiquiátricas da encefalite autoimune. Resultados e Discussão: As apresentações clínicas das encefalites autoimunes tendem a ser uma mistura de sintomas neuropsiquiátricos e somáticos. Declínio cognitivo rápido e inexplicável, psicose, catatonia, e delirium estão entre os sintomas mais comuns. A catatonia ocorre em aproximadamente 1/3 dos casos, com predominância de sintomas hipocinéticos. As anormalidades eletroencefalográficas e liquóricas são usualmente inespecíficas, complicando mais o diagnóstico diferencial. Apenas em 30% dos casos ocorrem anormalidades na ressonância magnética. Conclusão: Os psiquiatras são cruciais na identificação, diagnóstico e cuidado de indivíduos com doenças como a encefalite autoimune e no tratamento de sequelas neurocomportamentais de longo prazo.

The global use of noninvasive respiratory support provided by different supportive ventilation delivery methods (SVDMs) has increased, but the impact of these devices on the upper airway structures of patients with amyotrophic lateral sclerosis (ALS) is not known. We aimed to compare the pharyngeal cross-sectional area during spontaneous breathing with four different SVDMs: intranasal masks, oronasal masks, high-flow nasal cannula (HFNC), and helmet in patients with ALS. We compared measures of the pharyngeal area during spontaneous breathing and SVDM use. The greatest increase was observed with intranasal mask use, followed by HFNC, oronasal mask, and helmet respectively. In conclusion, upper airway opening in patients with ALS is enhanced by positive pressure with intranasal masks and HFNC, showing promise for increasing pharyngeal patency. Future studies should explore its applicability and effectiveness in maintaining long-term pharyngeal patency, especially in this population with bulbar weakness.

During the COVID-19 pandemic, the use of noninvasive respiratory support provided by different Supportive Ventilation Delivery Methods (SVDMs) has increased in the world, but the impact of these devices on the upper airway structures of patients with Amyotrophic lateral sclerosis (ALS) is not known. We aimed to compare the pharyngeal cross-sectional area during spontaneous breathing with four different SVDMs: intranasal masks, oronasal masks, High-Flow Nasal Cannula (HFNC), and Helmet in patients with ALS. We compared measures of the pharyngeal area during spontaneous breathing and SVDM use. The greatest increase was observed with intranasal mask use, followed by HFNC, oronasal mask, and helmet respectively. In conclusion, upper airway opening in patients with ALS is enhanced by positive pressure with intranasal masks and HFNC as promising interfaces for increasing pharyngeal patency.

Background: Neuromyelitis optica spectrum disorder (NMOSD) is the second most frequently demyelinating, autoimmune, and inflammatory Central Nervous System (CNS) disease, and its prevalence varies greatly according to geography and ethnicity. Objective: To determine the prevalence and phenotype of NMOSD at a reference center for demyelinating diseases in Goiás State. Methods: This was a cross-sectional study, approved under CAAE number 8380.9317.9.0000.5078. All patients fulfilled the 2015 international consensus criteria. Results: Our study showed NMOSD as 9.37% of all demyelinating diseases registered in. It occurred predominantly in women (81%) and non-white individuals (83.4% had self-declared mixed skin color), and the median age at onset was 48 years. Amerindian ancestry was significantly higher (68.75%) than others. Longitudinally extensive transverse myelitis (LETM) alone ≥3 vertebral segments (35%) and optic neuritis (ON) alone (35%) were the most common onset manifestations. The median length of time from disease beginning to study enrollment was 48 months. A relapsing course and moderate disability (Expanded Disability Status Scale (EDSS) 3.0-4.0) were most commonly observed. The worst neurological impairments, characterized by EDSS>4.5, occurred more frequently in males (44.5% among men versus 20.5% among women). The majority of the patients had been receiving immunosuppressive treatment with azathioprine since the diagnosis of NMSOD: 77% (37) had a good therapeutic response. The prevalent outcome (84%) was permanent disability: 52% became physically handicapped; 54% had permanent visual impairment (25% with bilateral and 75% with unilateral amaurosis) and 30% had sphincter disability (82% with neurogenic bladder and 18% with ostomy). Conclusion: The estimated prevalence of NMOSD in Goiás is 0.79/per 100,000 inhabitants. The predominant phenotype comprises women, non-whites, onset in the fourth decade of life, relapsing course, and permanent moderate disability. Our study was the first on the epidemiology of NMOSD in Goiás, where NMOSD predominantly correlates with Amerindian ancestry.

Introduction: Bulbar impairment represents a hallmark feature of amyotrophic lateral sclerosis (ALS) that significantly impacts survival and quality of life. Respiratory complications arise because of the weakness of the upper airway and respiratory muscles leading to respiratory failure, impaired swallowing, and reduced airway safety. Breath stacking and respiratory muscle endurance training are techniques that have been described to improve respiratory and bulbar function in patients with ALS. Considering the above, a respiratory technique named TR3 was developed. This study aimed to measure the acute effects of this technique on the upper airway through videofluoroscopy and to assess its clinical trial feasibility in patients with ALS. Material and methods: In this cross-sectional study, we enrolled participants diagnosed with ALS to perform a single session of TR3. Epidemiological data and baseline assessments were collected. The assessments included kinematics from videofluoroscopy measuring the retropalatal airspace size, the size of the narrowest airway, and the pharyngeal area during rest and TR3. Results: Eight participants were included. During TR3, an acute increase of 15% was observed in the retropalatal airspace size (t = 5.14, p < 0.01), a 123% increase was observed in the size of the narrowest airway (t = -4.18, p < 0.001), and a 277% increase was observed in the pharyngeal area (t = -5.34, p < 0.001). Conclusions: During the intervention, TR3 showed acute effects in increasing pharyngeal constriction, pharyngeal expansion, retropalatal airspace size, and post-lingual narrowest airway size and is feasible for a larger research program. A clinical trial (NCT04226144) is already being conducted to assess the chronic therapeutic effects of this technique and its impact on the clinical evolution of ALS.

Introduction Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease affecting both upper and lower motor neurons, and lead to respiratory failure. Strategies are suggested to respiratory management in ALS patients, as the breath stacking and Expiratory muscle training (EMT), which have been used as aid to assist cough in neuromuscular disorders. However, the randomized controlled trials performed in ALS patients have not investigated the addiction of EMT together breath stacking in this population. This trial aims to determine if breath stacking plus EMT is more effective than breath stacking alone to decrease the decline rate on the inspiratory/expiratory muscle strength, FVC and voluntary PCF in ALS patients. Methods This parallel-group, assessor-blinded randomized controlled trial, powered for superiority, aims to assess pulmonary function, respiratory muscle strength, peak cough flow as primary outcomes. Forty-two participants are being recruited referral neuromuscular disease center at Brasilia, Brazil. Following baseline testing, participants are randomized using concealed allocation, to receive either: a) breath stacking technique alone or b) breath stacking technique plus EMT. Conclusion There is a lack of evidence regarding the benefit of EMT plus breath stacking in ALS patients. This trial will contribute to evidence currently being generated in national and international trials by implementing and evaluating a respiratory therapy program including two components not yet combined in previous research, for people with ALS involving longer-term follow-up of outcomes. This trial is ongoing and currently recruiting. Trial registration This trial was prospectively registered on the Clinical Trials Registry NCT04226144.