Resumo em Inglês:

Abstract Background Patients with neuromuscular diseases (NMDs) have a high incidence of sleep-related breathing disorders. These include obstructive sleep apnea (OSA), which is characterized by recurrent episodes of upper airway obstruction during sleep, resulting in intermittent hypoxemia and sleep fragmentation. Obstructive sleep apnea may be more common in patients with NMDs than in the general population. Objective To assess the prevalence of OSA through home polygraphy at a public university hospital during respiratory evaluations of patients with NMDs, and its contribution to the indication of non-invasive ventilation. It did not aim to validate a model for early indication. Methods The present prospective study collected data over the period from May 2021 to June 2024, using medical records and tests such as spirometry to evaluate pulmonary respiratory function, home polygraphy, and sleep assessments using the Epworth Sleepiness Scale (ESS) and a symptom questionnaire. Results A total of 74 patients were included, 64.7% (n = 48) of whom had OSA. The most prevalent NMDs were muscular dystrophy (n = 22; 29.7%), myasthenia gravis (n = 13; 17.6%), and amyotrophic lateral sclerosis (ALS) (n = 11; 14.9%). Apnea-hypopnea index (AHI) values were higher in the supine position (11.6 ± 12.6) compared to the AHI in the non-supine position (7.0 ± 14.1), which indicates, on average, a mild degree of OSA. The ESS revealed that 40.5% of patients had scores indicating excessive daytime sleepiness (EDS). Conclusion The findings reinforce the importance of early OSA diagnosis in patients with NMDs.

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Abstract Background Epilepsy surgery is an established therapy for drug-resistant epilepsy, but it remains underused in Brazil. Assessing direct costs and outcomes is key for planning in low- and middle-income countries (LMICs). Objective To estimate surgery costs in a Brazilian public hospital and evaluate seizure and medication outcomes. Methods A retrospective economic evaluation was conducted among patients aged ≥ 16 years who underwent epilepsy surgery at a Brazilian tertiary public hospital between 2014 and 2019. A micro-costing (bottom-up) approach from the healthcare provider perspective was used to estimate actual resource consumption based on hospital administrative records. Costs were stratified by surgical technique, and clinical outcomes were assessed using seizure frequency, antiseizure medication use, and standardized Engel and International League Against Epilepsy (ILAE) classifications. Results Twenty patients were included, predominantly with temporal lobe epilepsy, and were mainly treated with resective procedures. Average direct costs varied according to the surgical technique, ranging from approximately US$ 4,200 for resective procedures to US$ 6,800 for disconnective surgeries. Hospital length of stay was the primary cost driver, followed by expenditures on materials and human resources. Overall, the observed costs were proportional to the clinical benefits, as most patients demonstrated favorable seizure control at 2-year follow-up, with consistent reductions in seizure frequency and antiseizure medication use. Conclusion The current study presents a transparent hospital-based micro-costing approach to estimate the direct costs of epilepsy surgery in a tertiary public setting of a middle-income country. By focusing on actual resource consumption and standardized clinical outcomes, it supports the clinical effectiveness and economic plausibility of epilepsy surgery within the Brazilian Public Healthcare System and informs future economic evaluations in similar contexts.

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Abstract Background Insomnia is a prevalent disorder associated with impaired daytime functioning and reduced quality of life. Dual orexin receptor antagonists (DORAs) have shown favorable short-term efficacy and safety profiles. However, evidence regarding their long-term (≥ 6 months) effects remains limited. Objective To synthesize the available evidence on prolonged DORA use in adults with chronic insomnia. Methods We conducted a systematic review and meta-analysis of randomized controlled trial. Adults with primary insomnia treated with DORAs (suvorexant, lemborexant, or daridorexant) approved by the United States Food and Drug Administration (FDA) for ≥ 6 months were included. The outcomes included patient-reported sleep parameters, adverse events, and treatment discontinuation. Results We included 6 randomized controlled trials comprising 3,546 participants. After 6 and 12 months, DORAs improved subjective sleep parameters of efficacy. Overall, DORAs showed adverse events similar to those of placebo at 6 months, but higher rates at 12 months. The overall rate of discontinuation due to adverse events did not differ significantly, although higher doses of certain DORAs increased the discontinuation rate at 6 months. Conclusion In chronic insomnia, DORAs provide sustained improvements in key subjective sleep outcomes, with overall acceptable safety and tolerability profiles. Higher doses may be less well tolerated. Additional long-term randomized trials are needed to better define the efficacy and safety of DORAs in clinical practice.

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Abstract Background Drug-resistant epilepsy (DRE) affects 30% of patients with epilepsy. Although multiple risk factors (RFs) are recognized, there are few studies that explore the differences in clinical presentation, etiology and RFs considering the sex, especially in Latin America. Objective To analyze sex differences in clinical features, outcomes and RFs for DRE in patients enrolled in 2 hospitals of Buenos Aires between 2020 and 2022. Methods Multicenter retrospective cohort study. Clinical variables, epilepsy characteristics, and complementary studies of patients over 18 years with epilepsy were collected. Descriptive analyses, bivariate comparisons (Chi-squared, t-test/Mann-Whitney U test) and logistic regressions were applied to adjust for confounding factors. Results A total of 122 patients were included, of whom 44 had DRE. The prevalence of DRE was slightly higher in men than in women (39.6 vs. 33.3%). Male sex showed 4 RFs for DRE: personal history (odds ratio [OR]: 7.82; 95%CI: 1.54–39.51), magnetic resonance imaging (MRI) with abnormal findings (OR: 4.40; 95%CI: 1.26–15.41), symptomatic etiology (OR: 4.77; 95%CI: 1.44–15.77), and time of evolution (OR: 1.05; 95%CI: 1.00–1.06). In women, time of evolution was the only RF for DRE (OR: 1.04; 95%CI: 1.00–1.08). Conclusion There are sex differences in clinical, etiological, and imaging features of DRE. It is important to incorporate a sex perspective into the initial assessment, as this could contribute to the early identification of patients with higher risk of DRE. Particularly in men with clinical factors associated with higher risk, it would be advisable to implement earlier and more intensive follow-up strategies.

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Abstract Background Lower extremity motor function assessments are essential to evaluate mobility and independence in stroke survivors. However, widely-used instruments do not account for the use of assistive devices, which may limit their sensitivity in detecting functional changes over time. Objective To translate and cross-culturally adapt the Lower Extremity Motor Function Test (LE-MFT) into Brazilian Portuguese and to evaluate its initial measurement properties. Methods The present study reports the translation, cross-cultural adaptation, evaluation of internal consistency, interrater reliability, construct validity, and floor/ceiling effects of the LE-MFT Brazil. The LE-MFT was translated and culturally adapted following international guidelines. Fifty stroke survivors were evaluated by two independent raters to examine the interrater reliability. Construct validity was assessed through correlations with the Timed Up and Go (TUG) test and the 10-Meter Walk Test (10MWT). Floor and ceiling effects were also analyzed. Results All LE-MFT scales showed excellent interrater reliability (intraclass correlation coefficient [ICC] = 0.86–0.96) and internal consistency (Cronbach's Alpha [α] = 0.92–0.96). Strong correlations were found between the LE-MFT and TUG (r ≥ 0.78; p < 0.001), and between the LE-MFT and 10MWT (r ≥ 0.71; p < 0.001), supporting construct validity. No floor nor ceiling effects were observed, except on the Equipment scale, which showed a ceiling effect in 38% of the participants. Conclusion The Brazilian version of the LE-MFT is a valid and reliable instrument to assess lower-limb motor function in individuals with chronic stroke. Its consideration of assistive-device use provides added clinical value for tracking functional independence.

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Abstract Background The incidence of late-onset and very-late-onset myasthenia gravis (MG) has increased worldwide, but national data in Brazil remain scarce. Characterizing the clinical profile and quality of life (QoL) of these patients is essential to improve care strategies. Objective To describe the clinical profile and assess QoL of patients with late- and very-late-onset MG followed at a Brazilian tertiary hospital, comparing them with early-onset MG patients. Methods Cross-sectional observational study including adult MG patients followed at a tertiary university hospital. Demographic, clinical, serological, neurophysiological, and radiological data were collected. Disease severity was assessed using the Myasthenia Gravis Composite (MGC) and Quantitative Myasthenia Gravis (QMG) scales. Furthermore, QoL was assessed using the 15-item Myasthenia Gravis QoL questionnaire (MG-QOL15). Correlation analyses were performed between MG-QOL15, MGC, and QMG scores. Results In total, 28 MG patients were included: 13 early-onset, 7 late-onset, and 8 very-late-onset. Male predominance, shorter disease duration, and absence of thymectomy were more frequent in the late and very-late-onset groups. These subgroups also showed better symptom control and perceived QoL, particularly the very-late-onset group. The MG-QOL15 scores showed a moderate correlation with MGC and a weaker correlation with QMG. Conclusion Late-onset and very-late-onset MG patients showed satisfactory QoL and clinical profiles, consistent with international data. These correlations reinforce the complementary role of patient-reported outcomes alongside objective clinical scales. Further studies with larger cohorts and longitudinal follow-up are needed.

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Abstract Background Migraine and voice are related because of the shared pathophysiological mechanisms involving the vagus nerve, which also innervates the larynx. Objective To conduct acoustic voice analysis and evaluate voice-related quality of life in women with migraine, in comparison with a control group. Methods In the current cross-sectional study, we performed voice recordings and used the Voice-Related Quality of Life and migraine characteristics questionnaires. The variables included loudness, fundamental frequency, jitter, shimmer, glottal-to-noise excitation ratio, and phonatory deviation diagram. Results The sample comprised 193 women (55 in the control group and 138 in the migraine group). No statistically significant differences were observed between the groups regarding the acoustic variables studied. The migraine group reported poorer scores in the physical domain of the Voice-Related Quality of Life questionnaire (p = 0.003) compared to the control group. The Random Forest statistical model predicted group allocation with 76% of precision. Conclusion In the studied sample, no differences were observed between women with migraine and the control group regarding the parameters of acoustic voice analysis. Women with migraine presented poorer voice-related quality of life compared to the control group.

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Abstract Background Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by spasticity, lower limb weakness, impaired balance, and increased risk of falls. Objective To evaluate the effect of vestibular rehabilitation associated with virtual reality (VRi) on functional balance in patients with HSP. Methods A randomized pilot clinical trial was conducted with 16 patients who were diagnosed with HSP and divided into two groups: GI (balance games) and GII (balance + strength games). Interventions were performed via the Wii console and the Wii Balance Board platform (Nintendo Co, Ltd.). The Berg balance scale (BBS) and physiological profile assessment (PPA) were administered at T0 (prerehabilitation), T1 (after 10 sessions), and T2 (after 20 sessions). The Friedman test and Wilcoxon test were used to analyze temporal changes, the Mann-Whitney test was used to compare the groups. Results All patients reported imbalance and muscle fatigue, whereas heaviness in the lower limbs and weakness were more common in GII. The visual contrast domain showed a significant change from T0 to T2, with scores increasing by a median of 2.0 (18.5-20.5) units. Conclusion The use of VRi showed potential as a therapeutic adjunct in HSP rehabilitation, with improvements in balance and fall risk. However, larger studies are needed to corroborate these results. Clinical trial registration ReBEC (RBR-3JMX67, 01/29/2020). https://ensaiosclinicos.gov.br/rg/RBR-3jmx67.

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Abstract Cutaneous wrinkling is a normal phenomenon that occurs on the palms in a reversible manner and results from vasoconstriction influenced by vasomotor function. It can be assessed through the skin-wrinkling test following water immersion, with the absence or reduction of wrinkling being associated with disorders affecting the dense network of sympathetic nerves in these regions. The literature suggests that this test may serve as a screening tool for small-fiber neuropathy, particularly in settings in which biopsy is not available. It is a rapid, inexpensive, and easily-accessible test. We herein review the principles of the skin-wrinkling test, its pathophysiology, and its clinical indications as a tool to evaluate the sympathetic component of the autonomic nervous system.

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Abstract Autoimmune-associated epilepsy (AAE) is an increasingly-recognized condition in which seizures result from immune-mediated mechanisms, such as Rasmussen's encephalitis and antibody-associated epilepsies. Its timely identification may enable more efficacious therapy and improve outcomes. The current paper aims to provide a clinically-oriented review of AAE, focusing on clinical identification, use of diagnostic scoring systems, and immunological testing strategies. Antibody-associated epilepsy encompasses a broad spectrum of presentations, from postencephalitic epilepsy to isolated drug-resistant temporal-lobe epilepsy. Neuronal-surface autoantibodies (such as anti-N-methyl-D-aspartate receptor (anti-NMDAR), anti- leucine-rich glioma-inactivated protein 1 (anti-LGI1), anti-CASPR2) and intracellular antibodies (such as anti-GAD65) are variably associated with pathogenesis and chronicity. Clinical scoring systems (such as Antibody Prevalence in Epilepsy and Encephalopathy-APE2, Antibody Contributing to Focal Epilepsy Signs and Symptoms - ACES, ntibody Prevalence in Epilepsy before Surgery - APES, Antibody in Drug-Resistant Temporal Lobe Epilepsy - ARTE and 'Obvious' Indications for Neural Antibody Testing in Epilepsy or Seizures - ONES) are helpful in selecting patients for autoantibody testing. A comprehensive workup includes magnetic resonance imaging (MRI) scans, prolonged electroencephalographic (EEG) monitoring, cerebrospinal fluid (CSF) analysis, and combined serum/CSF antibody panels. Testing methodology and antibody type must be carefully interpreted in the light of clinical context. In low-resource settings, cost-effective testing strategies and clinical-screening tools are crucial to optimize the diagnostic yield. Early clinical suspicion, guided use of diagnostic scores, and appropriate immunological investigation are central to manage AAE. Recognizing AAE as a distinct diagnostic category is essential to improve care and guide immunotherapeutic decisions.

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Abstract Labyrinthine hemorrhage (LH) is a rare cause of sudden sensorineural hearing loss (SNHL) and acute vestibular syndrome (AVS), which may mimic both peripheral and central etiologies. We report a case of a 76-year-old male on edoxaban therapy presenting with sudden right-sided SNHL and vertigo. Brain magnetic resonance imaging (MRI) performed 2 weeks later showed T1 and fluid-attenuated inversion recovery (FLAIR) hyperintensity of the right inner ear, consistent with LH. Evaluation of AVS in the emergency setting remains challenging, as LH may present as a rare stroke mimic, often indistinguishable from isolated labyrinthine stroke or labyrinthitis. Proper application and interpretation of vestibular assessment protocols, such as HINTS-plus, are critical in such cases. When bedside vestibular testing suggests central-type findings, but initial neuroimaging is normal, high-resolution brain MRI focused on the inner ear might be essential to rule out LH. Awareness of this rare entity may help prevent misdiagnosis, inappropriate thrombolysis, and delayed recognition, although stroke management should still be prioritized when HINTS-plus suggests a central pattern. This case highlights the diagnostic complexity of AVS and its potential pitfalls in bedside and imaging assessment, raising awareness of LH as a rare but clinically relevant stroke mimic.

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Abstract In 1869, Charcot and Alix Joffroy published the first detailed clinical and neuropathological description of amyotrophic lateral sclerosis (ALS), establishing the correlation involving muscle weakness, atrophy, spasticity, and degeneration of the lateral corticospinal tracts. Charcot unified the involvement of upper and lower motor neurons into a single clinical entity. His pioneering description was limited to the motor system, reflecting the scientific constraints of his time. Charcot interpreted ALS primarily as a disorder of the motor system, a conclusion consistent with the clinical and pathological methods available in the late nineteenth century. Neurological investigation at that time relied mainly on detailed clinical observation, anatomical correlation at autopsy, and relatively-simple physiological techniques. These approaches were well suited to identify motor dysfunction but were far less capable of revealing subtle cognitive or behavioral alterations. Currently, ALS is recognized as a multisystem neurodegenerative disorder. Thus, Charcot's historical contribution was crucial for the initial understanding of ALS, while modern perspectives acknowledge its broader clinical complexity beyond the motor system.