Resumo em Inglês:

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.

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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.

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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.

Resumo em Inglês:

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.

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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.

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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.