Departamento de Neurologia - FM/MNE

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O Departamento de Neurologia da Faculdade de Medicina da Universidade de São Paulo (FMUSP) teve origem na Cadeira de Clínica Psiquiátrica e Moléstias Nervosas da Faculdade de Medicina de São Paulo, criada em 1918. Atualmente, o Departamento abrange as áreas de neurocirurgia, neurologia clínica, neurologia experimental e neurologia infantil. Mantém foco no ensino de estudantes de graduação em Medicina, Fisioterapia, Terapia Ocupacional e Fonoaudiologia, Pós-Graduação lato sensu (Residência Médica e Estágios de Complementação Especializada) e stricto sensu na área de concentração Neurologia.

Site oficial: http://www.neurologiausp.com.br/

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article 1 Citação(ões) na Scopus
Short-term predictors of stereotactic radiosurgery outcome for untreated single non-small cell lung cancer brain metastases: a restrospective cohort study
(2024) NETO, Eliseu Becco; BASTOS, Dhiego Chaves de Almeida; YOSHIKAWA, Marcia Harumy; FIGUEIREDO, Eberval Gadelha; SOUZA, Francisco de Assis de; PRABHU, Sujit
Stereotactic radiosurgery (SRS) is an option for brain metastases (BM) not eligible for surgical resection, however, predictors of SRS outcomes are poorly known. The aim of this study is to investigate predictors of SRS outcome in patients with BM secondary to non-small cell lung cancer (NSCLC). The secondary objective is to analyze the value of volumetric criteria in identifying BM progression. This retrospective cohort study included patients >18 years of age with a single untreated BM secondary to NSCLC. Demographic, clinical, and radiological data were assessed. The primary outcome was treatment failure, defined as a BM volumetric increase 12 months after SRS. The unidimensional measurement of the BM at follow-up was also assessed. One hundred thirty-five patients were included, with a median BM volume at baseline of 1.1 cm(3) (IQR 0.4-2.3). Fifty-two (38.5%) patients had SRS failure at follow-up. Only right BM laterality was associated with SRS failure (p=0.039). Using the volumetric definition of SRS failure, the unidimensional criteria demonstrated a sensibility of 60.78% (46.11%-74.16%), specificity of 89.02% (80.18%-94.86%), positive LR of 5.54 (2.88-10.66) and negative LR of 0.44 (0.31-0.63). SRS demonstrated a 61.5% local control rate 12 months after treatment. Among the potential predictors of treatment outcome analyzed, only the right BM laterality had a significant association with SRS failure. The volumetric criteria were able to identify more subtle signs of BM increase than the unidimensional criteria, which may allow earlier diagnosis of disease progression and use of appropriate therapies.
article 0 Citação(ões) na Scopus
Relationship Between Brain Tumors and Intracranial Aneurysms: A Systematic Review
(2024) RABELLO, Pedro Henrique Mouty; RABELO, Nicollas Nunes; TELLES, Joao Paulo Mota; FIGUEIREDO, Eberval Gadelha
AIM: To investigate the possible relationship between intracranial aneurysms and brain neoplasms. MATERIAL and METHODS: A comprehensive literature review involving a search of the databases PubMed and Embase to identify relevant articles was conducted in March 2021. The initial search retrieved 451 articles. After deduplication and screening of abstracts, 56 articles were selected. After reading of the full texts, 19 articles were included in the review. RESULTS: There insufficient evidence to support that people with brain neoplasms have a higher incidence rate of IAs. However, the prevalence of IAs appears to be higher in patients with pituitary tumors than in the general population. The key factors affecting prognosis were tumor type in patients with unruptured aneurysms and progression of subarachnoid hemorrhage in individuals with ruptured aneurysms. Treatment should be individualized according to patient age, tumor pathology, location, and aneurysm rupture CONCLUSION: There is a lack of evidence to affirm that the existence of brain neoplasm plays a role in the formation and rupture of intracranial aneurysms. Additionally, there is insufficient evidence to confirm a greater prevalence of intracranial aneurysms in individuals with brain tumors. The association of these two disorders does not appear to worsen patient outcome. Prognosis depends on tumor pathology for malignant cases and on subarachnoid hemorrhage in patients with ruptured aneurysms.
article 0 Citação(ões) na Scopus
Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report
(2024) LIMA, Pedro Lucas G. S. B.; NOBREGA, Paulo R.; FREUA, Fernando; BRAGA-NETO, Pedro; PAIVA, Anderson R. B.; GUIMARAES, Thiago Goncalves; KOK, Fernando
Background Progressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics. Case report We report a case of PME type 7 due to a pathogenic variant in KCNC1 with myoclonus improvement after epileptic seizures. Discussion Myoclonus improvement after seizures may be a clue to the diagnosis of Progressive Myoclonic Epilepsy type 7.
article 0 Citação(ões) na Scopus
X-Linked Levodopa-Responsive Parkinsonism-Epilepsy Syndrome: A Novel PGK1 Mutation and Literature Review
(2024) GUIMARAES, Thiago Goncalves; PARMERA, Jacy Bezerra; CASTRO, Matheus Augusto Araujo; CURY, Rubens Gisbert; BARBOSA, Egberto Reis; KOK, Fernando
Background Genetic underpinnings in Parkinson's disease (PD) and parkinsonian syndromes are challenging, and recent discoveries regarding their genetic pathways have led to potential gene-specific treatment trials. Cases We report 3 X-linked levodopa (l-dopa)-responsive parkinsonism-epilepsy syndrome cases due to a hemizygous variant in the phosphoglycerate kinase 1 (PGK1) gene. The likely pathogenic variant NM_000291.4 (PGK1):c.950G > A;p.(Gly317Asp) was identified in a hemizygous state. Literature reviewOnly 8 previous cases have linked this phenotype to PGK1, a gene more commonly associated with hemolytic anemia and myopathy. The unusual association of epilepsy, psychiatric symptoms, action tremor, limb dystonia, cognitive symptoms, and l-dopa-responsive parkinsonism must draw attention to PGK1 mutations, especially because this gene is absent from most commercial hereditary parkinsonism panels. Conclusions This report aims to shed light on an overlooked gene that causes hereditary parkinsonian syndromes. Further research regarding genetic pathways in PD may provide a better understanding of its pathophysiology and open possibilities for new disease-modifying trials, such as SNCA, LRRK2, PRKN, PINK1, and DJ-1 genes.
article 0 Citação(ões) na Scopus
Impact of selective dorsal rhizotomy to cerebral palsy children caregivers' burden
(2024) MONACO, Bernardo Assumpcao de; CANDIDO, Alessandra Alves Du Rocher; TEIXEIRA, Manoel Jacobsen; ALHO, Eduardo Joaquim Lopes
PurposeIt is known that cerebral palsy (CP) children's caregivers suffer from burden, depression, and stress, impairing their quality of life (QoL). The more severe the CP, the more burden the caregiver has. Psychosocial support, education, therapies, and financial support are inversely related to the level of stress of the caregiver. Most parents of CP patients submitted to selective dorsal rhizotomy (SDR) report improvement not just on spasticity, but also in the functional role of the children, what can impact on caregiver's QoL. Our objective was to evaluate the burden of CP children's caregivers with and without previous SDR.MethodsSpastic CP children caregivers were divided into two groups: those who take care of children without previous SDR (control group) and those that children were previously submitted to SDR (surgical group). The burden index was compared between groups using Burden Interview Questionnaire (BIQ). For statistical analysis, we used SPSS.ResultsThe control group had enrolled 31 participants and the surgical group 36. The mean GMFCS level on the control and surgical groups was 3.94 +/- 1.26 and 3.74 +/- 1.12 (p = 0.61), respectively. The surgical group caregivers presented less burden related to the feeling that they should be doing more to their child (p = 0.003) and if they could do a better job in caring (p = 0.032), compared to controls. The total BIQ index was not significantly different between groups (surgical 32.14 +/- 12.34 vs. control 36.77 +/- 12.77; p = 0.87). Low economic status had a weak correlation to a higher BIQ index (R2 = 0.24). After age-matching, there was a significative higher BIQ index in the control group (p = 0.008).ConclusionCaregivers of spastic CP children who were previously submitted to SDR presented less burden related to feeling of the amount of given care than those without previous surgery. The impression that they could do a better job with their kids was higher in the control group. The severity of CP and low economic status were related to more burden in both groups. After pairing groups by age, the control group had a significative higher BIQ index compared to the SDR group.Clinical trial registrationTrial registration number: CAAE 73407317.6.0000.0068 (Ethical and Research Committee of University of Sao Paulo, Sao Paulo, Brazil, approved on 08/06/2021). All the subjects were freely given an informed consent to participate in the study that was obtained from all participants. Non-consented ones were excluded from the study.
article
Focused Fronto-Orbito-Zygomatic Approach Through the Extended Eyebrow Incision for Resection of Tuberculum Sellae Meningioma: 2-Dimensional Operative Video
(2024) PACHECO JUNIOR, Messias Goncalves; HAZIN, Gabriela Falcao; FIGUEIREDO, Eberval Gadelha; SANTO, Marcelo Prudente do Espirito; VIDAL, Claudio H. F.; COIMBRA, Caetano Jose Porto
article 0 Citação(ões) na Scopus
Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing?
(2024) SILVA, Guilherme Diogo; MAHLER, Joao Vitor; SILVA JUNIOR, Sergio Roberto Pereira da; MENDONCA, Leonardo Oliveira; LIMA, Pedro Lucas Grangeiro de Sa Barreto; NOBREGA, Paulo Ribeiro; KOK, Fernando; FREUA, Fernando
Background Monogenic autoinflammatory disorders result in a diverse range of neurological symptoms in adults, often leading to diagnostic delays. Despite the significance of early detection for effective treatment, the neurological manifestations of these disorders remain inadequately recognized.Methods We conducted a systematic review searching Pubmed, Embase and Scopus for case reports and case series related to neurological manifestations in adult-onset monogenic autoinflammatory diseases. Selection criteria focused on the four most relevant adult-onset autoinflammatory diseases-deficiency of deaminase 2 (DADA2), tumor necrosis factor receptor associated periodic fever syndrome (TRAPS), cryopyrin associated periodic fever syndrome (CAPS), and familial mediterranean fever (FMF). We extracted clinical, laboratory and radiological features to propose the most common neurological phenotypes.Results From 276 records, 28 articles were included. The median patient age was 38, with neurological symptoms appearing after a median disease duration of 5 years. Headaches, cranial nerve dysfunction, seizures, and focal neurological deficits were prevalent. Predominant phenotypes included stroke for DADA2 patients, demyelinating lesions and meningitis for FMF, and meningitis for CAPS. TRAPS had insufficient data for adequate phenotype characterization.Conclusion Neurologists should be proactive in diagnosing monogenic autoinflammatory diseases in young adults showcasing clinical and laboratory indications of inflammation, especially when symptoms align with recurrent or chronic meningitis, small vessel disease strokes, and demyelinating lesions.
article 0 Citação(ões) na Scopus
In Reply to the Letter to the Editor Regarding ""Stellate Ganglion Block in Subarachnoid Hemorrhage: A Promising Protective Measure Against Vasospasm?""
(2024) OLIVEIRA, Leonardo de Barros; BATISTA, Savio; PRESTES, Milena Zadra; BOCANEGRA-BECERRA, Jhon E.; RABELO, Nicollas Nunes; BERTANI, Raphael; WELLING, Leonardo Christiaan; FIGUEIREDO, Eberval Gadelha
article 0 Citação(ões) na Scopus
Does deep TMS really works for smoking cessation? A prospective, double blind, randomized, sham controlled study
(2024) BELLINI, Bianca B.; SCHOLZ, Jaqueline R.; ABE, Tania O.; ARNAUT, Debora; TONSTAD, Serena; ALBERTO, Rodrigo L.; GAYA, Patricia V.; MORAES, Iana R. A. de; TEIXEIRA, Manoel J.; MARCOLIN, Marco A.
Introduction: A substantial proportion of smokers wishing to quit do not stop smoking when using current therapies to aid cessation. Magnetic pulses to specific brain areas designated as transcranial magnetic stimulation may modulate brain activity and thereby change chemical dependencies. Deep transcranial magnetic stimulation (dTMS) with the H4 coil stimulates neuronal pathways in the lateral prefrontal cortex and insula bilaterally, areas involved in tobacco addiction. Objective: To evaluate the efficacy and safety of dTMS with T4 coil in smoking cessation. Methods: In a double blind, controlled clinical trial, adult smokers of at least 10 cigarettes/ day were randomized to active (n = 50) versus sham dTMS (n = 50). The protocol involved up to 21 sessions administered over up to 12 weeks. Tobacco use was monitored by self-report and confirmed by expired air monoximetry (at each dTMS visit) and blood cotinine (at the screening visit and at the end of sessions). Participants completed abstinence, mood and cognition scales at determined timepoints during follow-up. Results: In the intention to-treat-analysis, the cessation rate of the intervention and control groups was 14.0%. The reported side effects were as expected for this procedure. Although there were no serious adverse events, three participants were withdrawn according to safety criteria. Conclusion: Active treatment with dTMS H4 coil was safe but not effective for smoking cessation.
article
An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report
(2024) DONIS, Karina Carvalho; KALIL, Marco Antonio Baptista; POSWAR, Fabiano; KOK, Fernando; KOHEM, Charles Lubianca; POLONI, Soraia; BORSATTO, Taciane; VAIRO, Filippo Pinto e; PINHEIRO, Franciele Cabral; SCHWARTZ, Ida Vanessa Doederlein
Massive sequencing platforms allow the identification of complex clinical phenotypes involving more than one autosomal recessive disorder. In this study, we report on an adult patient, born to a related couple (third degree cousins), referred for genetic evaluation due to ectopia lentis, deafness and previous diagnosis of juvenile idiopathic arthritis. He was biochemically diagnosed as having Classic Homocystinuria (HCU); Sanger sequencing of the CBS gene showed the genotype NM_000071.2(CBS):c.[833T>C];[833T>C], compatible with the diagnosis of pyridoxine-responsive HCU. As he also had symptoms not usually associated with HCU, exome sequencing was performed. In addition to the variants found in the Sanger sequencing, the following variants were identified: NM_001256317.1(TMPRSS3):c. [413C>A];[413C>A]; and the NM_005807.6(PRG4):c.[3756dup]:[3756dup], confirming the diagnosis of autosomal recessive nonsyndromic deafness and Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (CACP), respectively. Genomic analysis allowed the refinement of the diagnosis of a complex case and improvement of the patient's treatment.