JOAO CARLOS PAPATERRA LIMONGI
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
28 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 28
- Wilson's disease(2013) LIMONGI, Joao Carlos Papaterra
bookPart Emergências em Distúrbios do Movimento(2013) LIMONGI, João Carlos PapaterrabookPart Sindromes parkinsonianas(2017) BARBOSA, Egberto Reis; LIMONGI, João Carlos PapaterrabookPart Manejo dos transtornos do movimento induzidos por drogas(2021) BARBOSA, Egberto Reis; LIMONGI, João Carlos PapaterrabookPart Distonias(2021) LIMONGI, João Carlos Papaterra; CASAGRANDE, Sara Carvalho Barbosa- Telerehabilitation in Parkinson's disease: Influence of cognitive status(2016) DIAS, Alice Estevo; LIMONGI, João Carlos Papaterra; HSING, Wu Tu; BARBOSA, Egberto ReisABSTRACT Background: The need for efficacy in voice rehabilitation in patients with Parkinson's disease is well established. Given difficulties traveling from home to treatment centers, the use of telerehabilitation may represent an invaluable tool for many patients. Objective: To analyze the influence of cognitive performance on acceptance of telerehabilitation. Methods: Fifty patients at stages 2-4 on the Hoehn-Yahr scale, aged 45-87 years old, with cognitive scores of19-30 on the Mini-Mental State Examination, and 4-17 years of education were enrolled. All patients were submitted to evaluation of voice intensity pre and post in-person treatment with the Lee Silverman Voice Treatment (LSVT) and were asked to fill out a questionnaire regarding their preferences between two options of treatment and evaluating basic technological competence. Results: Comparisons between pre and post-treatment values showed a mean increase of 14dBSPL in vocal intensity. When asked about potential acceptance to participate in future telerehabilitation, 38 subjects agreed to take part and 12 did not. For these two groups, 26% and 17% self-reported technological competence, respectively. Agreement to engage in remote therapy was positively associated with years of education and cognitive status. Conclusion: Responses to the questionnaire submitted after completion of traditional in-person LSVT showed that the majority of patients (76%) were willing to participate in future telerehabilitation. Age, gender, disease stage and self-reported basic technological skills appeared to have no influence on the decision, whereas other factors such as cognitive status and higher school education were positively associated with acceptance of the new therapy approach.
bookPart Síndromes parkinsonianas(2015) BARBOSA, Egberto Reis; LIMONGI, João Carlos Papaterra- Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia(2014) SILVA-JUNIOR, Francisco Pereira da; SANTOS, Camila Oliveira dos; SILVA, Sonia Maria Cesar Azevedo; BARBOSA, Egberto Reis; BORGES, Vanderci; FERRAZ, Henrique Ballalai; LIMONGI, Joao Carlos Papaterra; ROCHA, Maria Sheila Guimaraes; AGUIAR, Patricia de CarvalhoTHAP1 mutations are associated with idiopathic isolated dystonia in different ethnicities, but the importance of this gene as a cause of dystonia in the Brazilian population has not been determined. The aim of this study was to investigate the prevalence of THAP1 variants in Brazilian patients with idiopathic dystonia and to describe their clinical characteristics including non-motor symptoms. One hundred and ten unrelated patients with non-TOR1A (DYT1) idiopathic isolated dystonia and family members were evaluated and screened for genetic variants. Variants with a potential pathological role were observed in 9.0% of families studied, of which four were novel. The variants were identified in approximately 12% of patients with the age of onset below 40 years. In most of the patients, the onset of the disease was before early adulthood. The upper limb was the most common site of the onset, and approximately half of the patients had dysphonia. Pain, anxiety, and sleep-onset insomnia were the most prevalent non-motor symptoms, and their prevalence was not different from that observed in THAP1-negative patients. Therefore, THAP1 variants are an important cause of dystonia among individuals with an early-onset disease and a positive family history. The phenotypical heterogeneity among patients carrying similar variants shows that other factors may be modulating the disease.
- The prevalence of PRKRA mutations in idiopathic dystonia(2018) SANTOS, Camila Oliveira dos; SILVA-JUNIOR, Francisco Pereira da; PUGA, Renato David; BARBOSA, Egberto Reis; SILVA, Sonia Maria Cesar Azevedo; BORGES, Vanderci; LIMONGI, Joao Carlos Papaterra; ROCHA, Maria Sheila Guimaraes; FERRAZ, Henrique Ballalai; AGUIAR, Patricia de CarvalhoIntroduction: DYT-PRKRA (DYT16) is considered a rare cause of dystonia-parkinsonism. The significance of this gene as a cause of dystonia and its phenotypical characterization must be determined in larger cohorts. We aimed to investigate the role of PRKRA in patients with dystonia. Methods: We sequenced PRKRA in 153 unrelated Brazilian patients with idiopathic dystonia. The frequency of novel missense variants was investigated in healthy Brazilian controls and in public databases. Homozygosity in the PRKRA region was assessed through polymorphic markers. Results: PRKRA variants were identified in seven probands with isolated dystonia, including a novel c.C795A variant in compound heterozygosity with the previously described c.C665T variant. Heterozygosity in the gene region was observed in two probands who were homozygous for c.C665T, indicating that this mutation originated from independent events, suggesting a hotspot. Conclusion: PRKRA is not an unusual cause of idiopathic dystonia. In this cohort, it was responsible for 4.5% of the total of cases (4.9% of the isolated dystonia cases). The most common phenotype was early onset isolated focal dystonia followed by generalization, parkinsonism was not observed. This is first report of PRKRA causing adulthood-onset dystonia. Screenings of large cohorts are recommended to investigate the role of this gene in isolated dystonia, as well as in dystonia-parkinsonism cases worldwide.
- Non-invasive brain stimulation and kinesiotherapy for treatment of focal dystonia: Instrumental analysis of three cases(2020) SOUZA, Carolina de Oliveira; GOULARDINS, Juliana; COELHO, Daniel Boari; CASAGRANDE, Sara; CONTI, Juliana; LIMONGI, Joao Carlos Papaterra; BARBOSA, Egberto Reis; MONTE-SILVA, Katia; TANAKA, ClariceDystonia is a disabling movement disorder characterized by co-contraction of antagonist and agonist muscles, leading to abnormal sustained postures and impaired motor control. Cervical Dystonia (CD) and Hand Focal Dystonia (HFD) have been the most common forms of focal dystonia (FD). Do Non-Invasive Brain Neuromodulation (NIBS) such as Transcranial Direct Current Stimulation (tDCS) and repetitive Transcranial Magnetic Stimulation (rTMS) modulate the excitability of the connections between the motor cortical areas and may represent a therapeutic alternative for focal dystonia? Herein, we reported three cases of focal dystonia, two of them with cervical dystonia (CD) and one with hand focal dystonia (HFD), treated with NIBS combined to kinesiotherapy. The patients were daily submitted to 15 sessions of NIBS combined simultaneously with kinesiotherapy. CD patients were treated with tDCS (2 mA, 20 min, over the primary motor cortex), and HFD patient with rTMS (1 Hz, 1200 pulses, 80% of resting motor threshold, over the premotor cortex). For the CD patient's assessment, the Modified Toronto Scale for Cervical Dystonia Assessment (MTS), quiet balance test, and visual postural assessment were applied to observe the therapeutic effects. Quality handwriting analysis, tremor acceleration amplitudes, and the Wrinter's Cramp Rating Scale (WCRS) were used to assess the NIBS effect on HFD symptoms. Patients were evaluated before (pretest), immediately after (posttest), and three months after treatment (retention). NIBS associated with kinesiotherapy produced a long-term improvement of dystonia symptoms in all three patients. rTMS and tDCS associated with kinesiotherapy showed to be useful and safe to relief the dystonia symptoms in individuals with different types of focal dystonia with distinct functional disorders. Significance: The combined use of these intervention strategies seems to optimize and anticipate satisfactory clinical results in these neurological conditions, characterized by its difficult clinical management.
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