Abstract in English:

Abstract Background Arquivos de Neuro-Psiquiatria (ANP), the official journal of Academia Brasileira de Neurologia (ABN, Brazilian Academy of Neurology), celebrated 80 years in 2023. Objective To analyze the publication trends, authorship, and editorial patterns of the first 20 volumes of ANP. Methods We analyzed the first 20 volumes of ANP, published from 1943 to 1962. The data were tabulated independently by two blinded researchers and cross-verified. Results Oswaldo Lange was the chief editor, and, from 1943 to 1962, 20 volumes, 79 issues, 2 supplements, and 885 articles were published. We analyzed 509 articles (and excluded non-research papers). We found 905 authors (1.78 authors/article), and only 3.75% were women. Horacio Martins Canelas, Rolando Ângelo Tenuto, and Paulo Pinto Pupo were the most prolific authors. There were 326 papers on neurology, 83 on neurosurgery, 88 on psychiatry, and 12 on basic research. A comparison between the first 10 and second 10 volumes disclosed a significant difference in the fields of the articles: a progressive decrease in papers on psychiatry and an increase in those on neurology and basic science (p = 0.005). There was also a significant decrease in the total number of published articles in the second 10 volumes (p = 0.001), and a higher number of citations per article (p = 0.014), but no difference in the number of pages (mean number in the original articles: 11.9 ± 6.7 pages). Although most articles came from Southeastern Brazil (74%) and were written in Portuguese (84%), 91 were foreign. Conclusion The first 20 volumes marked the establishment of ANP in the post-World War II era. Most papers were written in Portuguese and included international contributions from Egas Moniz, Barraquer-Bordas, Bing, Denny-Brown and Wartenberg, for example.

Abstract in English:

Abstract Background With the emergence of new therapies for spinal muscular atrophy linked to chromosome 5q (SMA-5q), capturing motor function changes in the upper limbs (ULs) become crucial for assessing treatment efficacy and monitoring changes in the disease. The translation and cultural adaptation of the revised upper-limb module (RULM) into Brazilian Portuguese will enable implementation in clinical settings and facilitate the conduction of national studies. Objective To translate, cross-culturally adapt, and validate the RULM to Brazilian Portuguese. Methods The study was conducted in two phases: translation and cross-cultural adaptation, and the reliability assessment. Both phases followed recommendations from international guidelines. The analysis of the psychometric properties was performed with 21 individuals with SMA-5q, all of whom were at least 30-months-old and capable of sitting independently. Statistical analyses were performed using Cohen's Kappa analysis (K) and the intraclass correlation coefficient (ICC). Results The interrater agreement was considered excellent for items A to T (K > 0.81) and good (0.61–0.80) for items G and M. The reliability analysis showed an ICC of 0.998, indicating an extremely satisfactory level. Conclusion The Brazilian Portuguese version of the RULM has been shown to be valid and reliable for the assessment of SMA-5q individuals older than 2 years of age who could sit.

Abstract in English:

Abstract Background Pain in occipital neuralgia (ON) originates from the upper cervical nerves converging with the trigeminal complex. Greater occipital nerve (GON) blocks and radiofrequency treatments can be used in refractory ON. Objective To assess the efficacy of ultrasound-guided proximal greater occipital nerve (PGON) continous radiofrequency ablation (CRFA) in ON throughout 1 year. Methods We analyzed data from medical records and headache diaries. Before the intervention and 1, 3, 6, and 12 months after the intervention, at each appointment we evaluated the headache intensity through the 11-point Numeric Rating Scale (NRS-11), the headache disability, through the Six-Item Headache Impact Test (HIT-6), as well as the headache days per month. Treatment efficacy was determined by NRS-11 score < 4 at 12 months. Results A total of 18 patients were analyzed. The mean initial NRS-11 score was of 8.78 ± 0.732. At least 50% of pain reduction was noted in all patients at 6 months, and in 66% patients at 12 months. The frequency of attacks was correlated to poor response (r = 0.598; p = 0.009). The efficacy of the diagnostic block was correlated to successful response (r = −0.789; p = 0.001). For the categorical variables, the electric shock pain was associated with NRS-11 score ≥ 4 (p = 0.041), and lancinating pain was associated with NRS-11 score < 4 at 12 months (p = 0.031). Conclusion Ultrasound-guided PGON CRFA in refractory ON significantly reduced pain for up to 1 year. The initial frequency of attacks, electric shock like pain, and reduced response to diagnostic block were associated with reduced response.

Abstract in English:

Abstract Background Approximately 20% of victims of traumatic brain injury (TBI) in Brazil are children and adolescents, with more than 900 deaths per year. Objective To describe the characteristics and epidemiological profile of children and adolescents with TBI in the city of São Paulo, Brazil, according to age groups and metropolitan area of occurrence of the events leading to trauma. Methods We conducted a retrospective cross-sectional study with a review of consecutive medical records of children and adolescents with TBI hospitalized and treated at a level-1 trauma center in São Paulo between 2019 and 2023. Results In the period proposed for the study, 196 children and adolescents suffered TBIs. They had a median age of 5 (interquartile range [IQR] 10–1.75) years and were predominantly boys (71%), of white skin color/race (55%), and coming from the north zone of the metropolitan region of São Paulo (44%). Domestic accidents were the main causes of TBI (61%), followed by traffic accidents (24%). The mean length of hospital stay was of 13 (standard deviation [SD] ± 26) days, and the in-hospital mortality rate was of 3%. Conclusion We found a predominance of children and adolescents with TBI coming from the north zone of the metropolitan region of São Paulo, with a prevalence of falls from heights above the ground among children ≤ 9 years of age and trampling among children older than this age. Preventive actions must be established after reflections on socioeconomic issues and considering the metropolitan area where the accidents occur and the age group.

Abstract in English:

Abstract Background Galvanic vestibular stimulation (GVS) is a non-invasive technique employed to rehabilitate balance by delivering low-intensity, short-duration electrical stimulation to the mastoid bones, effectively activating the vestibulospinal tract. Objective To evaluate the effects of GVS on balance in patients with Parkinson's disease (PD) and postural instability. Methods In this clinical study, 25 PD patients with postural instability in the ON phase (best effect of dopaminergic medication) underwent GVS. Balance was assessed using the Berg Balance Scale (BBS), the Timed Up and Go (TUG) test, and posturography on a force platform. Electrical current intensity was progressively increased between the mastoids, starting at 1.0 mA and reaching 3.5 mA by the 6th session, with this level maintained until the 8th session. Stimulation duration began at 9 minutes in the 1st session, increased to 30 minutes by the 3rd session, and was sustained through the 8th session. Results A blinded comparison of pre- and post-GVS evaluations demonstrated significant improvements in BBS (p = 0.00001) and TUG (p = 0.00003) scores. Posturography showed an increase in the stability limit area (p = 0.026) and the general balance index (p = 0.001). Conclusion In the therapeutic management of postural instability in PD, GVS emerges as a promising complementary strategy for enhancing balance. Further research is needed to determine whether these improvements persist after GVS cessation. Registration of Clinical Trial: https://ensaiosclinicos.gov.br/rg/RBR-22j8728.

Abstract in English:

Abstract Background Individuals with Parkinson's disease (PD) often experience gait disturbances, and one of the most disabling is freezing of gait (FOG), which is characterized by the inability to initiate or continue walking. To identify its impact on the mobility of PD patients, it is necessary to objectively assess mobility and conduct systematic gait evaluations. Objective To evaluate mobility and gait parameters in individuals with PD with and without FOG. Methods The present cross-sectional study included a group of individuals with PD, divided into those with and without FOG, and a healthy control group. The Timed Up and Go (TUG) test was used to evaluate gait and mobility of the participants. Activities of daily living and motor performance in PD patients were assessed through parts II and III of the Movement Disorder Society Unified Parkinson Disease Rating Scale (MDS-UPDRS), while FOG was assessed through the New Freezing of Gait Questionnaire (NFOG-Q). Results A significant difference between the case and control groups was observed in the mean time it took to perform the TUG test, regardless of FOG, during the off-medication state. Unlike the group without FOG, there was a difference in the time it took to perform the tests between medication states in the group with FOG. Additionally, a correlation was found between TUG time and MDS-UPDRS scores in the FOG group. Conclusion Mobility in PD is influenced by medication effect and the presence of FOG. The results highlight the importance of objective and systematic gait evaluations to identify mobility problems, develop effective rehabilitation strategies, and optimize pharmacological treatments, especially for individuals with FOG.

Abstract in English:

Abstract Background Cervical dystonia (CD) is a movement disorder characterized by involuntary contractions that affect the muscles of the cervical region, causing movements in a twisting pattern. Its chronic-progressive nature can lead to pain, impaired mobility, and greater propensity to falls. Objective To verify gait and balance characteristics and their correlation with the risk and fear of falling in 46 CD patients. Methods The present was a descriptive and cross-sectional study. For the assessments, we sued the Berg Balance Scale (BBE), the Tinetti Scale (also known as the Performance-Oriented Mobility Assessment, POMA), the Dynamic Gait Index (DGI), the Fall Efficacy Scale-International (FES-I), and the Functional Reach Test (FRT). The patients were recruited during their routine consultations, before the administration of botulinum toxin. For data analysis, we used the BioEstat 5.0 software (free) to verify the distribution of samples (Shapiro-Wilk test) and the correlations among variables (Spearman test) considering p ≤ 0.05%. Results The results showed that the patients presented gait changes related to static and dynamic components of balance. Therefore, we observed a greater propensity to falls, with a correlation involving lack of balance, a greater risk of falling and, consequently, more fear of falling. Conclusion We verified that changes in the balance of CD patients have a negative impact on gait, increase the risk and the fear of falling, and can lead the individual to restrict their activity levels.

Abstract in English:

Abstract The etiology of Parkinson's disease (PD) is complex and multifactorial, depending on interactions involving environmental/lifestyle and genetic factors. The genetic aspects of the disease are becoming well characterized, while the environmental factors still need further investigation. In the present narrative review, we have described the most concrete evidence of associations between environmental factors and the risk of developing PD. Physical activity, healthy dietary patterns, smoking, and caffeine intake are protective factors against PD. Head trauma, consumption of milk and dairy products, and pesticide exposure were associated with a higher risk of developing PD. The associations of alcohol consumption, living in rural areas, farming, and consumption of well water with PD are still controversial. Results of several studies strongly suggest that diabetes mellitus is a risk factor for the development of PD, as well as the pre-diabetic state. Lower serum levels of uric acid were associated with an increased risk of developing PD and with worse clinical features and faster progression of symptoms. The protective effects of nonsteroidal antiinflammatory drugs use are controversial. Several other factors were potentially associated with the risk of developing PD: environmental pollutants such as organic solvents, exposure to sunlight, vitamin D deficiency, bullous pemphigoid, bipolar disorder, inflammatory bowel disease, irritable bowel syndrome, certain infections and agents, and essential tremor. Environmental factors are important risk markers for the development of PD. Understanding these risks and protective factors could lead to the implementation of risk-modifying actions for PD.

Abstract in English:

Abstract STAC3 gene congenital myopathy and malignant hyperthermia (MH) represent an important crossroads between neurology and anesthesia, where the prompt recognition of the clinical characteristics, and the collaboration between neurologists and anesthesiologists, are essential to early diagnosis and prevention of adverse critical events. This gene is associated with a congenital myopathy first reported as Native American myopathy (NAM), a rare condition characterized by dysmorphisms, contractures, muscular complaints, and scoliosis. As a rare pharmacogenetic hypermetabolic disease, MH is triggered by halogenated agents and/or succinylcholine, linked to variants in the RYR1, CACNA1S, or STAC3 genes. Our objective was to analyze the characteristics of a Brazilian case series of STAC3 gene myopathy associated with MH and to review previous reports. We report three MH crises, in two boys and one girl, 2 to 15 years old. All of them received halogenated agents and one additionally received succinylcholine. Two patients presented two to four previous uneventful general anesthesia. The MH crises in this series of patients with STAC3 gene mutations demonstrated variable clinical characteristics (expressivity) and occurrence (penetrance). Neuromuscular patients with findings suggestive of STAC3 myopathy should increase diagnostic suspicion regarding the risk of MH. Conversely, the careful evaluation of the anesthetic antecedents of neuromuscular patients can help to restrict the candidate genes. Additionally, Brazilian neurologists can notify neurological patients with antecedents of adverse events during anesthesia to the Brazilian Registry of Neurological Diseases (Registro Brasileiro de Doenças Neurológicas, REDONE, in Portuguese).

Abstract in English:

Abstract Niemann-Pick type-C (NPC) disease is a rare genetic condition with a clinical spectrum ranging from a fatal prenatally-presenting and quickly lethal disorder to an adult-onset chronic neurodegenerative condition. Given the scarcity of information regarding NPC disease in Brazil, a group of experts decided to discuss some disease-related aspects at the national level. The present manuscript describes the results of a Brazilian consensus meeting conducted to propose recommendations for the diagnosis, management, and follow-up of NPC disease in Brazil, considering the clinical practice point of view. These recommendations include patient characteristics on clinical presentation, as systemic and neurological manifestations according to the age group and atypical manifestations; a flowchart for diagnostic confirmation, considering the Brazilian scenario; and treatment, encompassing disease-modifying therapy, supportive care, and patients' follow-up. The expert panel provided an objective basis of recommendations on NPC diagnosis and management in Brazil. The authors expect that this manuscript will help clinicians to identify, adequately treat and follow-up NPC patients in Brazil.

Abstract in English:

Abstract The authors briefly present important data about Professor Charcot's genealogy, discussing possible influences of his family history on his behavior, his personality, and the implications for his brilliant scientific career and professional success. This article adds some data that was ignored in previous biographies.