MATEUS MISTIERI SIMABUKURO
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
4 resultados
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- Clinical manifestations of the anti-IgLON5 disease(2017) GAIG, Carles; GRAUS, Francesc; COMPTA, Yarko; HOGL, Birgit; BATALLER, Luis; BRUGGEMANN, Norbert; GIORDANA, Caroline; HEIDBREDER, Anna; KOTSCHET, Katya; LEWERENZ, Jan; MACHER, Stefan; MARTI, Maria J.; MONTOJO, Teresa; PEREZ-PEREZ, Jesus; PUERTAS, Inmaculada; SEITZ, Caspar; SIMABUKURO, Mateus; TELLEZ, Nieves; WANDINGER, Klaus-Peter; IRANZO, Alex; ERCILLA, Guadalupe; SABATER, Lidia; SANTAMARIA, Joan; DALMAU, JosepObjective: To report the presentation, main syndromes, human leukocyte antigen (HLA) association, and immunoglobulin G (IgG) subclass in the anti-IgLON5 disease: a disorder with parasomnias, sleep apnea, and IgLON5 antibodies. Methods: This was a retrospective clinical analysis of 22 patients. The IgG subclass was determined using reported techniques. Results: Patients' median age was 64 years (range 46-83). Symptoms that led to initial consultation included sleep problems (8 patients; 36%), gait abnormalities (8; 36%), bulbar dysfunction (3; 14%), chorea (2; 9%), and cognitive decline (1; 5%). By the time of diagnosis of the disorder, 4 syndromes were identified: (1) a sleep disorder with parasomnia and sleep breathing difficulty in 8 (36%) patients; (2) a bulbar syndrome including dysphagia, sialorrhea, stridor, or acute respiratory insufficiency in 6 (27%); (3) a syndrome resembling progressive supranuclear palsy (PSP-like) in 5 (23%); and (4) cognitive decline with or without chorea in 3 (14%). All patients eventually developed parasomnia, sleep apnea, insomnia, or excessive daytime sleepiness. HLA-DRB1*10:01 and HLA-DQB1*05:01 were positive in 13/15 (87%) patients; the DRB1*10:01 allele was 36 times more prevalent than in the general population. Among 16 patients with paired serum and CSF samples, 14 had IgLON5 antibodies in both, and 2 only in serum (both had a PSP-like syndrome). Twenty of 21 patients had IgG1 and IgG4 antibodies; the latter predominated in 16. Conclusions: Patients with IgLON5 antibodies develop a characteristic sleep disorder preceded or accompanied by bulbar symptoms, gait abnormalities, oculomotor problems, and, less frequently, cognitive decline. IgG4 subclass antibodies predominate over IgG1; we confirm a strong association with the HLA-DRB1*10:01 allele.
- Central nervous system germinoma presenting as progressive cerebral hemiatrophy and pituitary enhancement(2017) GUEDES, B.; BARBOSA, B.; KUBOTA, G. T.; SOUZA, M. N.; FRASSETO, F.; ONO, C.; LUCATO, L.; NITRINI, R.; SIMABUKURO, M.
- Investigations in GABA(A) receptor antibody-associated encephalitis(2017) SPATOLA, Marianna; PETIT-PEDROL, Mar; SIMABUKURO, Mateus Mistieri; ARMANGUE, Thas; CASTRO, Fernanda J.; ARTIGUES, Maria I. Barcelo; BENIQUE, Maria R. Julia; BENSON, Leslie; GORMAN, Mark; FELIPE, Ana; OBLITAS, Ruben L. Caparo; ROSENFELD, Myrna R.; GRAUS, Francesc; DALMAU, JosepObjective: To report the clinical features, comorbidities, receptor subunit targets, and outcome in patients with anti-GABA(A) receptor (GABA(A)R) encephalitis. Methods: Clinical study of 26 patients, including 17 new (April 2013-January 2016) and 9 previously reported patients. Antibodies to alpha 1, beta 3, and gamma 2 subunits of the GABA(A)R were determined using reported techniques. Results: Patients' median age was 40.5 years (interquartile range 48.5 [13.75- 62.35] years; the youngest 2.5 months old; 13 female). Symptoms included seizures (88%), alteration of cognition (67%), behavior (46%), consciousness (42%), or abnormal movements (35%). Comorbidities were identified in 11 (42%) patients, including 7 tumors (mostly thymomas), 2 herpesvirus encephalitis (herpes simplex virus 1, human herpesvirus 6; coexisting with NMDAR antibodies), and 2 myasthenia without thymoma. Brain MRI was abnormal in 23 (88%) patients, showing in 20 (77%) multifocal, asynchronous, cortical- subcortical T2/fluid-attenuated inversion recovery abnormalities predominantly involving temporal (95%) and frontal (65%) lobes, but also basal ganglia and other regions. Immunologic or tumor therapy resulted in substantial improvement in 18/21 (86%) assessable patients; the other 3 (14%) died (2 status epilepticus, 1 sepsis). Compared with adults, children were more likely to have generalized seizures (p = 0.007) and movement disorders (p = 0.01) and less likely to have a tumor (p 5 0.01). The main epitope targets were in the alpha 1/beta 3 subunits of the GABA(A)R. Conclusions: Anti-GABA(A)R encephalitis is characterized by frequent seizures and distinctive multifocal cortical- subcortical MRI abnormalities that provide an important clue to the diagnosis. The frequency of symptoms and comorbidities differ between children (more viral-related) and adults (more tumor-related). The disorder is severe but most patients respond to treatment.
article 25 Citação(ões) na Scopus Rapidly Progressive Dementia: Prevalence and Causes in a Neurologic Unit of a Tertiary Hospital in Brazil(2017) NETO, Adalberto Studart; NETO, Herval R. Soares; SIMABUKURO, Mateus M.; SOLLA, Davi J. F.; GONCALVES, Marcia R. R.; FORTINI, Ida; CASTRO, Luiz H. M.; NITRINI, RicardoBackground: Rapidly progressive dementia (RPD) is usually associated with Creutzfeldt-Jakob disease, a fatal condition. Current advances in the understanding of immune-mediated diseases allow the diagnosis of previously unrecognized treatable RPDs. Objective of the Study: The objective of the study was to describe the prevalence and causes of RPD in a neurology service, identifying potentially reversible causes. Methods: We carried out a cross-sectional evaluation of all patients admitted to the neurology unit of a tertiary hospital in Brazil between March 2012 and February 2015. We included patients who had progressed to moderate or severe dementia within a few months or up to 2 years at the time of hospitalization, and used multivariable logistic regression analysis to identify factors associated with a favorable outcome. Results: We identified 61 RPD (3.7%) cases among 1648 inpatients. Mean RPD patients' age was 48 years, and median time to progression was 6.4 months. Immune-mediated diseases represented the most commonly observed disease group in this series (45.9% of cases). Creutzfeldt-Jakob disease (11.5%) and nonprion neurodegenerative diseases (8.2%) were less common in this series. Outcome was favorable in 36/61 (59.0%) RPD cases and in 28/31 (89.3%) of immune-mediated cases. Favorable outcome was associated with shorter time from symptom onset to diagnosis and abnormal cerebrospinal fluid findings. Conclusions: Immune-mediated diseases were the most common cause of RPD in this series. Timely evaluation and diagnosis along with institution of appropriate therapy are required in RPD, especially in view of potentially reversible causes.