Abstract in English:

Abstract Background Purpose in life (PiL) is an important aspect of psychological wellbeing, which can be influenced by sociodemographic factors. Objective To analyze the relationship between sociodemographic variables and PiL in older individuals. Methods A quantitative study that evaluated 189 participants using the PiL Scale (PLS) was conducted. Participants were divided into two groups according to median PLS score. The Mann-Whitney U-test was used to assess group differences, given the non-normal distribution of variables. Spearman's bivariate correlations and a stepwise logistic regression model were applied to identify predictors of PiL. Results Of the total participants, 77.25% were female. The mean age was significantly lower in the high PiL group (p = 0.017). Spearman's correlations revealed a weak negative relationship between age and PiL (rho = −0.151; p = .038) and a weak positive relationship between schooling and PiL (rho = 0.156; p = 0.032). Logistic regression indicated that higher education (OR = 1.087; p = 0.017) and being female (OR = 2.546; p = 0.018) were associated with higher PiL. Conclusion High PiL was associated with higher education and being female. Although age showed a negative correlation, the variable did not remain an independent predictor in the final multivariate model.

Abstract in English:

Abstract Background Aneurysmal subarachnoid hemorrhage (aSAH) is a severe neurological emergency associated with high rates of mortality and disability. While multiple prognostic scores have been developed in high-income countries, evidence from low- and middle-income settings remains limited. Objective To evaluate the predictive performance of clinical and radiological scores for mortality and functional outcomes in aSAH patients treated in a public tertiary center in a resource-limited country. Methods We conducted a retrospective cohort study of adult patients with confirmed aSAH admitted between June 2018 and March 2022. Eight prognostic scores were applied: World Federation of Neurosurgical Societies (WFNS), Barrow Neurological Institute (BNI), VASOGRADE, Hunt and Hess score, Age, Intraventricular hemorrhage, and Rebleeding (HAIR), WFNS grade, Age, and Pupillary reactivity (WAP), Hemorrhage, Age, Treatment, Clinical Status, and Hydrocephalus (HATCH), Brain Aneurysm Institute (BAI), and modified BNI score. Primary outcomes were in-hospital mortality and poor functional outcome (modified Rankin Scale 4–6) at 90 days. Discriminative ability was assessed using the area under the receiver operating characteristic curve (AUROC) and bootstrap comparisons. Results Among 74 patients, in-hospital mortality was 42%, and 68.9% had poor functional outcomes. All scores demonstrated good predictive performance (AUROC ≥ 0.78). The mBNI and WFNS had the highest AUROCs for functional outcome (0.88 and 0.86, respectively), with mBNI significantly outperforming BNI (difference = 0.16; 95% CI: 0.085–0.25). The HATCH score showed moderate accuracy (AUROC 0.79), although significantly inferior to mBNI in pairwise comparison. There were no missing data, and scores were not used to guide clinical care. Conclusion Despite being developed in high-income countries, the selected prognostic scores showed strong performance in a resource-limited setting. These results support their use as early risk stratification tools and emphasize the need for further validation in middle-income healthcare systems.

Abstract in English:

Abstract Background Ataxia comprises a heterogeneous group of disorders with multiple clinical and etiological presentations. The frontal subtype, in particular, is poorly defined and often misdiagnosed, reflecting both its complex historical evolution and lack of formal diagnostic criteria. Objective To evaluate clinical and epidemiological characteristics of a sample of patients with ataxia under follow-up in a private neurology clinic. Methods We evaluated 48 patients diagnosed with ataxia over a 4-month period and followed them for 1-year in a private neurology clinic in southern Brazil. Clinical, neuroimaging, and laboratory data were analyzed. Patients were classified according to clinical and etiological subtypes based on criteria defined by the authors. Results Frontal ataxia was the most frequent presentation (n = 15; 31.3%), predominantly affecting elderly patients with systemic arterial hypertension, diabetes mellitus, and MRI evidence of small vessel disease. These patients had a later disease onset (mean: 75.9 ± 8.8 years), lower SARA scores, and a nonprogressive course compared with degenerative cerebellar ataxias (p < 0.0001). No correlation was observed between the severity of small vessel disease (Fazekas scale) and gait ataxia (rs = -0.28, p = 0.31). Hereditary ataxias, particularly spinocerebellar ataxias (SCAs), were the second most frequent group, followed by atypical Parkinsonian syndromes. Conclusion Frontal ataxia emerged as a frequent and underrecognized subtype in routine neurological practice. These findings underscore the need for increased awareness and the development of evidence-based diagnostic criteria to better define and distinguish it within the spectrum of ataxic disorders.

Abstract in English:

Abstract Background In-hospital stroke is associated with delayed recognition, reduced access to acute treatment, and worse outcomes, particularly in low- and middle-income countries. Objective To characterize the clinical profile, care processes, and outcomes of patients with ischemic stroke occurring during hospitalization. Methods The present retrospective cohort study included adult patients with ischemic stroke diagnosed during hospitalization at a comprehensive stroke center. Stroke recognition time was used as the reference point. Clinical characteristics, stroke severity, acute treatment, and in-hospital outcomes were analyzed. Primary outcomes were in-hospital mortality, discharge destination, and functional independence. Results Fifty-two patients were included. Most strokes occurred in patients admitted for non-neurological conditions, mainly in surgical specialties. Stroke recognition was delayed in a relevant proportion of cases, and reperfusion therapy was infrequently performed, with no procedure-related complications. Moderate-to-severe strokes were common. In-hospital mortality was 9.6%, and functional status significantly declined from admission to discharge. Most patients received therapeutic care planning and were referred for rehabilitation. Conclusion In-hospital ischemic stroke predominantly affects patients hospitalized for non-neurological conditions and is frequently recognized late, limiting access to reperfusion therapies. These findings highlight important gaps in in-hospital stroke detection and support the implementation of structured rapid-response protocols.

Abstract in English:

Abstract Background Cerebral arteriovenous malformation (cAVM) is a rare and complex cerebrovascular disease that may cause neurological symptoms, cognitive complaints, and psychological distress even without hemorrhage, potentially impairing long-term quality of life. Objective To assess the impact of cAVM on mental health and quality of life, considering patients' clinical presentation and the type of treatment received. Methods In the present cross-sectional study, adults aged 18 to 65 with ruptured or unruptured cAVM treated with conservative, or multimodal approaches were recruited. Data were collected through an online survey distributed by participating institutions. Mental health, psychological distress, and quality of life were evaluated using the 5-item Mental Health Index (MHI-5), the Self-Reporting Questionnaire (SRQ-20), and the World Health Organization Quality of Life-brief version questionnaire (WHOQOL-BREF). Results were categorized and compared with normative data. Statistical analyses included descriptive statistics, analysis of variance (ANOVA), t-tests, χ2, and Fisher's exact tests. Results Eighty-six participants with cAVM completed the questionnaire. Unruptured lesions accounted for 62.8% and ruptured cAVM 37.2%. Neurological deficits were reported by 94.2% of participants. Among conservatively-managed unruptured cases, 47.1% reported neurological deficits, without significant differences when compared with other treatments. Despite similar neurological status, conservatively managed unruptured patients showed poorer mental health (p = 0.048) and lower quality of life in the physical (p < 0.001) and social domains (p = 0.016). Conclusion Patients with unruptured cAVM managed conservatively exhibit significantly worse mental health and reduced physical and social quality of life, despite a similar prevalence of neurological deficits relative to other groups. These findings highlight the importance of incorporating psychosocial outcomes into treatment decision-making for cAVM.

Abstract in English:

Abstract Background Rituximab, an anti-cluster of differentiation 20 (anti-CD20) monoclonal antibody, has been widely used off-label for multiple sclerosis (MS) treatment, demonstrating high effectiveness and a favorable safety profile. However, real-world data from Brazil, particularly within the public healthcare system, remain scarce. Objective To assess the real-world effectiveness and safety of rituximab for MS treatment in a Brazilian tertiary center. Methods We conducted a single-center, observational study at Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP), including MS patients treated with rituximab between January 2016 and October 2024. The primary outcome was the change in annualized relapse rate (ARR) following rituximab initiation. The secondary outcomes included disability progression, radiological activity, and safety. The statistical analyses employed non-parametric tests and time-to-event analysis. Results Among the 45 patients (25 with relapsing-remitting MS [RRMS], 18 with secondary progressive MS, and 2 with primary progressive MS), rituximab reduced the ARR by 89.8% (from 0.49–0.05; p < 0.001), with 90.9% remaining relapse-free. In RRMS patients, the ARR significantly decreased, from 0.56 to 0.17, after rituximab initiation (p = 0.019), with 88% remaining relapse-free (95%CI: 68.8–97.5). Radiological activity was observed in 6.8% of the sample. Patients with breakthrough disease activity (n = 4; 8.9%) presented more frequent prior natalizumab use than those without it (75.0% versus 43.9%; p = 0.039), as well as higher pretreatment relapse rates (1.8 versus 0.7; p = 0.033). Infusion-related reactions affected 12 (26.7%) patients, and they were mostly mild, while infections were the most common non-infusion adverse event (20; 57.8%). In total, 4 patients discontinued rituximab, mainly due to access limitations. Conclusion Rituximab demonstrated high effectiveness and acceptable safety for MS treatment in a Brazilian public healthcare setting. Its favorable risk-benefit profile supports broader adoption in resource-limited contexts.

Abstract in English:

Abstract Background Impulse control disorders (ICDs) are potentially serious complications of Parkinson's disease (PD). Treatment, particularly the use of dopamine agonists (DAs), is associated with the development of ICDs and related behaviors. However, susceptibility to these disorders appears to be linked to specific risk factors. Objective To assess the frequency, clinical presentation, and factors associated with the development of ICDs in a population of patients with PD. Methods Patients with PD were screened for ICD-related symptoms using the Questionnaire for Impulsive-Compulsive Disorders in Parkinson''s Disease -Current Short (QUIP-CS) questionnaire. Additionally, they underwent cognitive evaluation and were assessed using the Movement Disorder Society–Unified Parkinson's Disease Rating Scale (MDS-UPDRS). Sociodemographic data and disease progression information were collected. Levodopa equivalent daily dose (LEDD) was calculated for each patient. Results Of the 90 patients evaluated, 42 (46.6%) exhibited symptoms of ICDs. The most frequent subtype was binge eating (50%), followed by compulsive buying (33.3%) and hypersexuality (21.4%). A significant association was found between DA use and the development of ICDs (p = 0.041). Patients with ICDs using DAs had a higher mean LEDD (p < 0.001) and a higher frequency of motor complications (MDS-UPDRS Part IV, p = 0.028) compared to those not using DAs. Conclusion In the current study, the use of DAs was the main risk factor associated with the development of impulse control disorders. No other significant associated factors could be identified.

Abstract in English:

Abstract Background Stroke-associated pneumonia (SAP) is a common complication in patients with acute ischemic stroke (AIS), leading to higher mortality and poor functional outcomes. Early identification of at-risk individuals is critical for timely interventions. Objective To identify the independent risk factors for SAP in AIS patients and to develop a predictive nomogram for early risk stratification. Methods We conducted a retrospective analysis of 280 AIS patients admitted between January 2021 and August 2025. Multivariable logistic regression identified independent SAP risk factors, and a nomogram was developed. Model performance was evaluated through receiver operating characteristic (ROC) curve analysis, calibration plots, and decision curve analysis (DCA). Internal validation was performed using bootstrap resampling (1 thousand iterations). Results The incidence of SAP was of 30.0% (84/280). The independent risk factors included advanced age, atrial fibrillation, higher score on the National Institutes of Health Stroke Scale (NIHSS), nasogastric tube insertion, mechanical ventilation, and elevated monocyte-to-lymphocyte ratio (MLR). Higher albumin levels were protective. The nomogram showed good discrimination (area under the curve [AUC]= 0.816; 95%CI: 0.765–0.871), satisfactory calibration, and favorable clinical usefulness, as demonstrated by the DCA. Conclusion We developed a nomogram to predict SAP risk in AIS patients. The key risk factors included advanced age, atrial fibrillation, NIHSS score, nasogastric tube insertion, mechanical ventilation, and elevated MLR, while higher albumin levels were protective. The nomogram demonstrated strong discriminatory power and clinical usefulness, supporting early risk stratification and targeted interventions.

Abstract in English:

Abstract Background Pathogenic variants of the COQ7 gene result in a spectrum of neurological diseases, mainly distal hereditary motor neuropathy (dHMN). We herein report cases of dHMN related to biallelic p.Met1? (c.3G > T [NM_016138]). We compare phenotypes among different COQ7variants reported in the literature. Objective To describe and analyze our case series, review COQ7-related diseases, and compare our case series with the literature reports. Methods We described 5 dHMN-p.Met1? patients and searched dHMN AND Brazil and COQ7 in the PubMed/MEDLINE, SciELO and Scopus databases. The categorical variables were expressed as absolute frequencies, and they were compared using the Fisher's exact test and odds ratios with 95%CIs; moreover, exploratory multivariate logistic models with penalization were applied to adjust the associations for genotype/geographic origin. Results We analyzed four patients with dHMN plus (two with pyramidal syndrome [PS], one with cerebellar ataxia [CA] and PS, and one with cognitive impairment [CI]) and one with pure dHMN. Our search identified 47 cases of COQ7-related disorders, and The p.Met1? variant was more frequent in dHMN (p < 0.001). In exploratory multivariate models adjusting for genotype/geographic origin, the associations observed in the univariate analyses were partially sustained. The p.Met1? variant remained related to earlier age at onset, CI, and proximal lower limb weakness, whereas Brazilian origin continued to show association with cerebellar manifestations. The 95%CIs were wide due to the small sample, and the results should be interpreted as exploratory. Conclusion In conclusion, our findings suggest that the p.Met1? variant is associated with selected phenotype, even after adjustment for genotype/geographic origin. Brazilian origin remained independently related to cerebellar involvement, indicating potential modifying factors beyond genotype.

Abstract in English:

Abstract Background Alpha 1-antitrypsin (A1AT) helps maintain vascular-wall integrity, but its role in the formation and rupture of intracranial aneurysms is unclear. Objective To compare A1AT levels between patients with ruptured and unruptured intracranial aneurysms and assess the associations with vasospasm and functional outcomes. Methods We retrospectively analyzed the medical records of patients who had serum A1AT levels measured between 2018 and 2022 during routine outpatient evaluations. The sample included 233 patients with unruptured intracranial aneurysms, 114 with ruptured aneurysms, and 55 controls with intracranial arteriovenous malformations (AVMs), but without aneurysms. Results The mean A1AT levels were 134.9 ± 23.3 mg/dL in the unruptured group, 132.1 ± 20.3 mg/dL in the ruptured group, and 132 ± 19 mg/dL in the controls. The A1AT levels did not exhibit a significant association with the presence of intracranial aneurysms when compared to the levels of the control group (odds ratio [OR]: 1.07; 95%CI: 0.93–1.25; p = 0.40) or with aneurysm rupture (OR: 0.94; 95%CI: 0.84–1.04; p = 0.27) when compared to the levels of the unruptured group. Similarly, there were no statistically significant correlations between the protein concentrations and vasospasm (OR: 0.94; 95%CI: 0.69–1.22; p = 0.67) or functional outcomes defined by a score ≤ 2 on the modified Rankin Scale (OR: 0.77; 95%CI: 0.51–1.27; p = 0.23). Conclusion The A1AT levels did not differ between the groups with ruptured and unruptured aneurysms, neither were they associated with vasospasm nor functional outcomes.

Abstract in English:

Abstract Chorea is a rare manifestation of Wilson's disease (WD), resulting from copper-induced dysfunction of the basal ganglia. We herein report the case of a 22-year-old woman with progressive dysarthria and generalized chorea, later confirmed as WD. After 1 year of penicillamine therapy, she showed marked clinical improvement, with only residual chorea in the right upper limb. A 7-Tesla (7-T) magnetic resonance imaging (MRI) scan revealed predominant involvement of the left basal ganglia and corticospinal tract, including the hyperintense globus pallidus rim sign. This case highlights chorea as a potential initial manifestation of WD and reinforces its reversibility with the appropriate treatment.

Abstract in English:

Abstract Ozzy Osbourne, the legendary frontman of Black Sabbath, publicly revealed his diagnosis of Parkinson's disease (PD) in 2020, offering visibility to a complex neurodegenerative condition. His case, later linked to a mutation in the PARK2 (parkin) gene, presented atypically with a later age of onset, contributing to ongoing discussions about the phenotypic variability of genetic forms of PD. Beyond medical narratives, Osbourne's openness and philanthropy—culminating in a benefit concert that raised $190 million for Parkinson's and pediatric charities—played a transformative role in destigmatizing the disease. This article explores the scientific and social impact of Osbourne's disclosure, highlighting the role of PARK2 in mitochondrial homeostasis, synaptic integrity, and tumor suppression. We also examine his pursuit of experimental stem cell therapy, discussing its scientific basis, ethical considerations, and current clinical research landscape.