Arquivos de neuro-psiquiatria最新文献

Intracranial germ cell tumors (iGCTs) often lead to endocrine-metabolic complications; however, their long-term effects are not well understood and characterized.To evaluate endocrine-metabolic dysfunction before and after iGCTs treatment.The present retrospective study included 99 patients with iGCTs treated at a tertiary hospital. Endocrine and metabolic parameters were assessed before and after treatment.A male sex predominance was observed (81.8%). The leading site was pineal (44.4%), and 67.7% of the tumors were classified as germinoma. Radiotherapy was performed in 82.8% of the cases (58.5% cranial and 41.5% craniospinal). At diagnosis, the incidences of gonadotropin-independent precocious puberty and diabetes insipidus were 15.2% and 48.2%, respectively. Significant endocrine-metabolic changes in patients with iGCTs were observed after treatment, as 72.3% of patients required hormone replacement, 60% had growth hormone deficiency, and dyslipidemia was observed in 49.2% of patients. Overweight increased from 24.2 to 35.4% after treatment, while obesity increased from 10.1 to 15.4%. There was an increase in growth hormone deficiency, hypothyroidism, and hypogonadism, while prolactin levels significantly decreased after treatment. An older age at diagnosis was associated with a lower risk of hypocortisolism (p = 0.005). Regarding sex, females had lower height Z-scores and a higher frequency of growth hormone deficiency compared with males. Tumor-related mortality was reported in 22.2% of patients, occurring on average 2.2 years postdiagnosis.The high prevalence of endocrine-metabolic complications following radiotherapy highlights the necessity of ongoing monitoring. The treatment demonstrated significant efficacy, as reflected by the notable survival rates. Early intervention is crucial for improving the long-term quality of life.

Mechanical thrombectomy (MT) is a key therapy for acute ischemic stroke (AIS), improving survival and functional outcomes. However, the variability in results highlights the need for predictive markers to refine patient selection. Biomarkers reflecting inflammation and metabolic stress are gaining recognition for their role in AIS and MT outcomes.To systematically review and synthesize the evidence on biomarkers associated with clinical outcomes in AIS patients undergoing MT. Specific aims include evaluating their relationship with functional recovery (mRS), mortality, infarct volume, hemorrhagic transformation, and complications such as malignant brain edema (MBE) and delayed cerebral ischemia (DCI).A systematic review of the literature was conducted in accordance with the guidelines of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement to identify studies evaluating biomarkers in MT. The PubMed and Embase databases were searched using the following terms: (Marker OR biomarker*) AND (Mechanical Thrombectomy OR endovascular) AND Stroke.Of 2,834 articles identified, 86 met inclusion criteria. Several biomarkers, such as C-reactive protein (CRP), neutrophil-to-lymphocyte ratio (NLR), adenosine deaminase (ADA), neuron-specific enolase (NSE), and matrix metalloproteinase-9 (MMP-9), were consistently associated with worse functional outcomes, increased mortality, and higher risk of complications including hemorrhagic transformation and MBE.Multiple biomarkers demonstrate prognostic value in AIS patients undergoing MT. These findings may support risk stratification and individualized care, though further prospective studies are needed to integrate these biomarkers into the clinical practice.

Recent studies demonstrate a significant paradigm shift concerning migraine patients suffering from medication overuse (MO). Traditionally, doctors used to demand that patients who overused medications be withdrawn before beginning any preventive therapy; however, such a belief has recently been challenged by emerging evidence about the benefit of calcitonin gene-related peptide monoclonal antibodies (CGRP mAbs), which have shown similar effectiveness in several clinical trials and real-world studies, regardless of whether a patient has previously stopped taking excessive medications. The data indicates that patients undergoing CGRP mAb therapy naturally decreased their acute medication consumption as migraine frequency diminished without requiring forced discontinuation. Furthermore, safety analyses have confirmed favorable tolerability profiles when CGRP mAbs are administered concurrently with various acute medications. This new evidence-based approach offers several clinical advantages, including enhanced treatment adherence and reduced risk of withdrawal complications. These findings support transitioning from mandatory detoxification protocols toward more individualized treatment strategies, representing a significant advancement in clinical migraine management.

Williams syndrome (WS) is a genetic, multisystemic, and neurodevelopmental disorder. The prevalence of auditory hypersensitivity in WS is high, especially in childhood, with reports in the literature from 94 to 100% of individuals evaluated, which can generate significant impacts on their quality of life. Therefore, the existence of instruments for screening hyperacusis that are easy and quick to apply for use in clinical routine is essential.To translate and perform the cross-cultural adaptation of the Hyperacusis Screening Questionnaire into Brazilian Portuguese.A questionnaire concerning auditory hypersensitivity in WS was translated by two translators who are fluent in English. After the synthesis of the translations, back-translation was performed to analyze similarity, a meeting of the expert committee for semantic and linguistic adaptation of the instrument was held, and pretesting and validation of content and appearance was conducted.The translated and adapted version of the questionnaire was similar to the original regarding general and referential meaning. Answers from 324 families of individuals with WS were included, 85.2% of those reported hyperacusis as a ongoing symptom.The translation and cross-cultural adaptation of the questionnaire were performed according to the methodology recommended in the literature, with necessary equivalences being made for the Brazilian reality. The instrument developed and tested in the present study proved to be useful in screening for hyperacusis in the population with WS, allowing its use in future investigations on the subject and comparison with other studies.

Neurofascin constitutes a family of cell-surface proteins identified more than 4 decades ago, produced through alternative RNA splicing, with various isoforms expressed in neural tissues. With the emergence of chronic inflammatory demyelinating polyneuropathy (CIDP) subtypes characterized by distinct pathological mechanisms, antineurofascin antibody-mediated neuropathies have gained attention and are now categorized as autoimmune nodoparanodopathies. Among these, the anti-pan-neurofascin immunoglobulin G3 (IgG3) subtype presents a particularly severe and diagnostically-challenging phenotype, marked by a fulminant clinical course, diverse symptomatology, and high rates of morbidity and mortality. Despite its clinical relevance, to date, no comprehensive review has focused specifically on this manifestation, highlighting a significant gap in the literature. To address this, we herein review the seven reported cases and explore the proposed pathophysiological mechanism involving the destruction of the node of Ranvier via hyperactivation of membrane attack complex (MAC) formation. Additionally, we examine emerging evidence supporting the use of eculizumab as a potential therapeutic option, alongside other treatment strategies. Finally, we discuss the role of standardized antibody assays, serological analyses, and neurophysiological studies in improving diagnostic accuracy.

Transient ischemic attack (TIA) is a critical vascular event that often precedes strokes. Despite its significance, management varies widely across physicians.To evaluate the knowledge and practices of Brazilian physicians regarding TIA diagnosis and management.A survey was conducted among members of the Brazilian Academy of Neurology. It included questions about demographic information, TIA management practices, and knowledge of guidelines.While most respondents were neurologists or residents, there was significant variability in hospital admission, diagnostic testing, and treatment strategies. Many physicians relied on risk stratification tools but did not consistently follow guidelines for diagnostic imaging or medication.These findings highlight the need for improved education and standardized protocols for TIA management in Brazil. Implementing public health policies to address these gaps could significantly reduce stroke recurrence rates and improve patient outcomes.

Medication-overuse headache (MOH) was first described in 1951 with ergotamine overuse. Since then, much has been studied about its risk factors, pathophysiology, prevention, and treatment. Despite this, many people still suffer from this condition. Even for those who reach medical care, the path to maintaining significant improvement is neither short nor easy. Here, we propose the ubiquitous individualization of headache treatment. The more we study the condition, the more it becomes evident that different groups of patients benefit from different approaches: starting prophylactic medication immediately or postponing it, providing a bridge treatment or not, and advising patients to either stop medication overuse immediately or reduce it gradually.

The cerebellum and basal ganglia are integrated structures of the motor system, classically viewed as separate entities with different roles. Interactions between these structures were believed to occur mainly at the cortical level. However, neuroanatomical studies have resulted in a shift in this perspective. Symptoms attributed to basal ganglia disorders may arise from aberrant cerebellar circuit activity, and, conversely, cerebellar dysfunction may manifest due to pathological changes in basal ganglia pathways. In this narrative review, we present multiple disorders of the basal ganglia and cerebellum, highlighting their intricate interactions.