Abstract in English:

Abstract Background Impulsiveness in primary headaches is not well understood. Objective To analyze impulsiveness in patients with medication-overuse headache (MOH) and either chronic migraines or chronic tension-type headaches (TTHs). Methods This cross-sectional study included 119 participants (96 female) divided into 3 groups: the migraine with MOH (M-O, n = 44, age = 36.6 ± 11.1), the tension-type headache with MOH group (TTH-O, n = 38, age = 42.6 ± 11.8), and the healthy control group (HC, n = 37, age = 36.9 ± 13.1). The Barratt Impulsiveness Scale-11 Short Form (BIS-11 SF), Beck's Depression Inventory (BDI), Beck's Anxiety Inventory (BAI), and Pittsburgh Sleep Quality Index (PSQI) were used to assess impulsiveness, depression, anxiety, and sleep quality, respectively. Results Impulsiveness levels were significantly higher in the M-O (p < 0.01) and TTH-O (p < 0.01) groups compared with the HC. However, no significant difference in impulsiveness was found between the M-O and TTH-O (p > 0.05). The PSQI scores were significantly higher in the M-O and TTH-O compared with the HC (p < 0.01). Additionally, anxiety scores were notably higher in the M-O compared with both the TTH-O and HC (p < 0.01). Conclusion The present study, which compared the M-O and TTH-O groups with HC in terms of impulsiveness, with no significant differences in parameters such as age, gender, schooling, frequency of headache attacks, and disease onset duration, concluded that both patient groups exhibited higher impulsiveness compared with the controls. Furthermore, the lack of difference in impulsiveness between MO and chronic TTH-O patients with a common denominator of MOH suggests that it may be associated with MOH, which is a shared subset of two distinct headache disorders.

Abstract in English:

Abstract Background Comorbid autoimmune disorders affect approximately 0.2% of the population. A second autoimmune disease occurs in up to 15% of myasthenia gravis (MG) patients. Objective To evaluate the association between MG and inflammatory bowel disease (IBD). Methods We conducted a cross-sectional study involving a Brazilian cohort of IBD patients and a literature review. Results In 2022, we found 1 MG patient with ulcerative colitis and 3 with Crohn's disease out of 606 IBD patients (0.66% prevalence). The patient with UC and MG died in April 2024. The mean IBD onset age was 33.5 ± 2.7; patients were 45.8 ± 7.3-years-old at evaluation. Further, 2 patients were acetylcholine receptor antibody positive, 1 was anti-muscle specific kinase positive, and 1 seronegative. Also, 3 had abnormal repetitive nerve stimulation, all had normal nerve conduction studies, abnormal skin wrinkling test, and mild small fiber neuropathy. None had thymoma and/or underwent thymectomy. According to the MG Foundation's classification, one was class V, one IVb, and two IIa. The MG diagnosis was masked by immunotherapy in all. The prevalence ratio of MG in IBD patients versus the proportion of MG among all patients in our center was 8.56 (p < 0.0001, CI = 3.1–23.5). Considering the lowest and highest prevalence of this condition reported in the literature, the ratio is 44.0 (p < 0.0001, CI: 16.3–118.4) and 26.4 (p < 0.0001, CI: 9.8–70.6), respectively. Conclusion The prevalence of MG is higher in IBD, may include muscle specific kinase positive disease (first report in the literature) and frequently overlaps with other autoimmune conditions and small fiber neuropathy.

Abstract in English:

Abstract Background Multiple sclerosis (MS) affects mainly young people of reproductive age with significant lifelong repercussions, among which sexual dysfunction (SD) is one of the most neglected during routine clinical care. Objective To evaluate SD in female patients diagnosed with relapsing-remitting MS (RRMS). Methods This cross-sectional analytic study was performed at the Santa Casa de São Paulo Hospital, Faculdade de Ciências Médicas, São Paulo, Brazil, between November 2020 and March 2022. The sample included 80 female patients diagnosed with RRMS and 106 healthy controls. Questionnaires probing sexual dysfunction (the Multiple Sclerosis Intimacy and Sexuality Questionnaire – MSISQ-19 and the Female Sexual Function Index – FSFI) and depression and anxiety (the Hospital Anxiety and Depression Scale – HADS, the Beck Depression Inventory – BDI; and the Beck Anxiety Inventory – BAI) were applied. Results A high prevalence of SD in both groups (43.4% and 38.8% for the RRMS and control groups, respectively) was identified by the FSFI analysis. A statistically higher prevalence (56.3%) of sexual dysfunction was detected in RRMS patients when using the MSISQ-19 tool to assess sexuality in this population compared with the FSFI scale (p = 0.016). Conclusion A high prevalence of SD was found in both MS patients and healthy controls as measured by the FSFI. However, the specific tool (MSISQ-19) revealed a higher prevalence of SD in MS patients. Thus, the use of MSISQ-19 for the diagnosis and management of SD in this patient group is recommended.

Abstract in English:

Abstract Background Cognitive impairment is prevalent in stroke patients and is rarely diagnosed. Cognitive deficits involving language functions, praxis, visuospatial and visuoconstructive skills, as well as memory, are prominent. The cognitive assessment tests available do not address some specific characteristics of stroke patients and present essential limitations concerning the most compromised cognitive domains. Objective To determine the performance profile of the Oxford Cognitive Screen – Brazilian Portuguese version (OCS-Br) in cognitively-healthy individuals and to evaluate its ability to screen for cognitive impairment in individuals after ischemic stroke. Methods We conducted an observational and descriptive study with cognitively-healthy individuals and patients with a history of stroke. The healthy individuals were recruited at the Neurology Clinic of the Outpatient Center of Universidade de São Caetano do Sul and the João Castaldelli Integrated Center for Health and Education for the Elderly, in the city of São Caetano do Sul, state of São Paulo. The stroke patients were recruited at the same Neurology Clinic and among subjects referred from Hospital Municipal de Emergências Albert Sabin and admitted to the Stroke Unit of Hospital Santa Marcelina, in the city of São Paulo, from September 2021 to July 2023. Results The study included 108 participants, 50 (46.3%) in the stroke group and 58 (53.7%) in the healthy group. When comparing the OCS-Br scores between the groups, we found a significant difference in writing tasks, executive functions (attention, change of strategy), and memory. Conclusion Our results show the need for adequate monitoring and rehabilitation of poststroke patients. The advantages of the OCS-Br are: its focus on specific cognitive aspects of stroke, such as visual inattention and visual field testing; the assessment of patients with aphasia and visual impairment; and its prognostic value to predict long-term functioning.

Abstract in English:

Abstract Background Levodopa-induced dyskinesia (LID) remains a significant motor complication in Parkinson's disease (PD), although opinions differ on its clinical relevance. Objective To explore the current prevalence and impact of LID, we analyzed two cohorts from the Latin American Research Consortium on the Genetics of Parkinson's Disease from movement disorder clinics in the city of São Paulo, Brazil, recruited 10 years apart. Methods The cohorts included 187 individuals diagnosed with PD in phase 1 (2007–2014) and 224 in phase 2 (2021–2022). The presence and functional impact of LID were measured using part IV (items 4.1 and 4.2 respectively) of the Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS). Results The analysis revealed that LID frequency increased from 34.7 in phase 1 to 54.9% in phase 2 (more recent), with functional impact rising from 25.1 to 38.8%. Conclusion The findings suggest that LID remains a relevant clinical issue in clinics specialized in movement disorders in Brazil, with no reduction in prevalence throughout the last decade. Further studies from other regions and less specialized neurology centers may help understand this motor complication in Brazil and in other developing countries.

Abstract in English:

Abstract Background Neuropsychological and functional assessments are crucial for identifying the transition from healthy aging to dementia. While brief cognitive batteries have become popular for their practicality, most have been developed in high-income countries, neglecting the diverse educational backgrounds found in developing nations. Objective This study focuses on the Brief Cognitive Screening Battery (BCSB) adapted for Indonesia (BCSB-INA), aiming to investigate its diagnostic accuracy in detecting cognitive impairment among older adults. Methods This cross-sectional study was conducted at the Memory Clinic of Universitas Sumatera Utara Hospital from January to August 2024, including participants aged 50 and above. Subjects underwent cognitive assessments using MoCA-INA and BCSB-INA. Data analysis involved ROC curves to evaluate the tests' accuracy. Results A total of 140 subjects were included, with significant differences in cognitive test scores between those with cognitive impairment and normal individuals. The BCSB-INA demonstrated good diagnostic performance, with an AUC of 0.875 when including the Clock Drawing Test (CDT) and 0.810 without it. The development of a multivariate model further enhances its diagnostic capabilities, allowing for more tailored intervention strategies. Conclusion The BCSB-INA represents an important improvement in cognitive assessment for older adults in Indonesia, showing good sensitivity and specificity. Continued research and updates to cognitive assessment tools are crucial to meet the increasing demand for effective dementia screening in diverse populations.

Abstract in English:

Abstract Background Charcot-Marie-Tooth (CMT) disease is a genetically diverse group of hereditary neuropathies. Most studies on the frequency of CMT subtypes report that the early growth response 2 (EGR2) gene accounts for less than 1% of cases. However, data regarding the epidemiology and clinical characteristics of EGR2-related CMT in Central and South America remain limited. Objective To characterize the clinical and genetic features of EGR2-related CMT in a Brazilian cohort. Methods We retrospectively analyzed clinical and ancillary data from four individuals with confirmed molecular diagnosis of EGR2-related CMT. Patients were categorized based on age of onset, motor nerve conduction velocity of the ulnar nerve, and nerve biopsy findings when available. Next-generation sequencing was utilized for genetic analysis. Results Pathogenic and likely pathogenic variants were identified exclusively in the three zinc-finger domains of EGR2, including a novel variant, c.1234G > C(p. Glu412Gln). Patients exhibited significant variationinclinical severityand phenotypes. Dysphagia, respiratory complications, and scoliosis were prominent features. Conclusion Our findings corroborate the complex and varied clinical presentations of EGR2-related CMT, highlighting respiratory issues and dysphagia as significant features. Comprehensive clinical assessment and early genetic diagnosis are essential for managing this condition’s diverse phenotypic spectrum.

Abstract in English:

Abstract The recognition of the molecular structures, namely the node of Ranvier and the axonal regions surrounding it (the paranode and juxtaparanode), as the primary target for specific autoantibodies has introduced a new site for neurological location (microtopographic structures), in contrast to the prevailing understanding, in which lesions to neural macrostructures (roots, nerves, and/or plexus) were the focus of semiologists and electrophysiologists for topographic, syndromic, and nosological diagnoses. Therefore, there was a need to understand and characterize the components of these neural microstructures that are grouped in small regions within the nerve to optimize clinical and therapeutic reasoning.

Abstract in English:

Abstract Background Recent research on Parkinson's disease (PD) therapy has highlighted glucagon-like peptide 1 (GLP-1) agonists as potential therapeutic agents. However, recent randomized controlled trials (RCTs) have shown mixed results regarding the use of this medication. Objective To perform a meta-analysis comparing GLP-1 agonists with placebo or standard PD treatment in adult PD patients. Methods We systematically searched the PubMed, Embase and Cochrane Central databases. The efficacy outcomes were assessed through the Movement Disorder Society Unified Parkinson Disease Rating Scale (MDS-UPDRS) and the 39-item Parkinson's Disease Questionnaire (PDQ-39). We also assessed adverse events. Dichotomous data were compared using the risk ratio (RR), and continuous endpoints were pooled using the mean difference (MD). Results We included 4 RCTs, with a total of 514 patients. In every study, the Hoehn and Yahr stage was < 3. The pooled analysis demonstrated that the use of GLP-1 agonists was not associated with an improvement in the scores on parts I, II, III, and IV of the MDS-UPDRS at 6 and 12 months of follow-up. Neither did quality of life (PDQ-39) show significant differences among the groups, and a higher risk of gastrointestinal adverse events and weight loss was observed with the use of GLP-1 agonists. A subgroup analysis further confirmed the lack of clinical benefits of the intervention regarding all of these efficacy outcomes, and the intervention also significantly reduced result heterogeneity. Conclusion In 1 year, GLP-1 agonists failed to improve motor and non-motor features of PD. Additional high-quality studies are needed to draw more robust conclusions about this treatment.

Abstract in English:

Abstract Over the last decade, whole-exome sequencing (WES) has become a standard diagnostic tool, significantly transforming the landscape of clinical genetics and playing a pivotal role in the diagnosis of neurogenetic diseases. This revolutionary shift has left a lasting impact on the field of neurology in Brazil. The current review article examines key developments and milestones achieved in Brazil through the application of WES in neurology and discusses forthcoming challenges and essential steps to advance molecular diagnosis. Several studies report the use of WES to diagnose genetic disorders with neurological manifestations in Brazil, underscoring the growing importance of molecular diagnosis in neurogenetics. These studies often provide detailed phenotypic analyses and clinical descriptions, offering valuable insights into the genetic underpinnings of several neurological conditions. Many reports highlight the use of WES in the investigation of complex neurological conditions in Brazil, such as neurodevelopmental disorders, hereditary spastic paraplegia, movement disorders, and ataxia. The discovery of new genes implicated in monogenic diseases with neurological manifestations through WES was a significant breakthrough. Despite these advances, the availability of large cohort studies on rare diseases in Brazil remains limited, hindering the ability to generalize findings and explore the full spectrum of genetic diversity. However, a few larger cohort studies have substantially contributed to our understanding of rare diseases and specific neurological disorders. While WES has limitations and may eventually be supplanted by more advanced diagnostic tools, it left a permanent mark on the neurology field in Brazil. The field of neurogenetics is set to become increasingly important in the future.

Abstract in English:

Abstract The present protocol provides general recommendations based on the best evidence currently available for physiotherapists to use as a guide for the care of stroke patients during hospitalization. The Brazilian Early Stroke Rehabilitation Task Force, comprising physical therapy experts and researchers from different Brazilian states, was organized to develop this care protocol based on a bibliographical survey, including meta-analyses, systematic reviews, clinical trials, and other more recent and relevant scientific publications. Professionals working in stroke units were also included in the task force to ensure the practicality of the protocol in different contexts. This protocol provides guidance on assessment strategies, safety criteria for the mobilization of patients with stroke, recommendations for mobilization and proper positioning, as well as evidence-based practices for treatment during hospitalization, including preventive measures for shoulder pain and shoulder-hand syndrome. The protocol also provides information on the organization of the physiotherapy service at stroke units, guidelines for hospital discharge, and quality indicators for physiotherapy services. We have included detailed activities that can be performed during mobilization in the supplementary material, such as postural control training, sensory and perceptual stimulation, task-oriented training, and activities involving an enriched environment. The protocol was written in a user-friendly format to facilitate its application in different social and cultural contexts, utilizing resources readily available in most clinical settings.

Abstract in English:

Abstract The intersection of literature and neuroscience provides a fascinating way to explore human behavior through fictional narratives. Brazilian literature, particularly the work of Machado de Assis, excels in portraying characters with neuropsychiatric conditions. This work aims to establish connections between the fictional representations of human behavior in Machado's classic works and neurological conditions described by contemporary neuroscience. In The Posthumous Memoirs of Brás Cubas and Quincas Borba, Machado's characters exhibit behaviors that align with modern neurological diagnoses. For example, Brás Cubas experiences episodes resembling delirium, characterized by mental confusion and altered cognition, while Quincas Borba shows traits of attention deficit hyperactivity disorder (ADHD) and bipolar disorder. Rubião, the protagonist of Quincas Borba, meets certain criteria for dementia, displaying visual hallucinations and cognitive fluctuations. By analyzing Machado's characters through a neuropsychiatric lens, we can appreciate his remarkable ability to depict complex mental conditions, many of which were not fully understood by medicine at the time.