UMBERTINA CONTI REED
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Neurologia, Faculdade de Medicina - Docente
LIM/15 - Laboratório de Investigação em Neurologia, Hospital das Clínicas, Faculdade de Medicina
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
LIM/15 - Laboratório de Investigação em Neurologia, Hospital das Clínicas, Faculdade de Medicina
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
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- Professor Luiz Alcides Manreza IN MEMORIAM(2012) BACHESCHI, Luiz Alberto; TARICCO, Mario Augusto; REED, Umbertina Conti
- Hypercontractile congenital muscle stiffness(2018) CAMELO, C.; SILVA, A. Da; REED, U.; BONNEMANN, C.; ZANOTELI, E.
- Clinical Manifestation of Nebulin-Associated Nemaline Myopathy(2023) MORENO, Cristiane Araujo Martins; ARTILHEIRO, Mariana Cunha; FONSECA, Alulin Tacio Quadros Santos Monteiro; CAMELO, Clara Gontijo; MEDEIROS, Gisele Chagas de; SASSI, Fernanda Chiarion; ANDRADE, Claudia Regina Furquim de; DONKERVOORT, Sandra; SILVA, Andre Macedo Serafim; DALFIOR-JUNIOR, Luiz; ABATH-NETO, Osorio Lopes; REED, Umbertina Conti; BOENNEMANN, Carsten; ZANOTELI, EdmarBackground and ObjectivesNemaline myopathy (NM) is a genetically heterogeneous inherited myopathy related with at least 12 genes, whereas pathogenic variants in NEB gene are the most common genetic cause. The clinical spectrum of NM caused by NEB pathogenic variants (NM-NEB) is very broad, ranging from mild to severe presentations manifesting with generalized weakness, as well as respiratory and bulbar involvement. There is currently not enough data regarding the progression of the disease. In this study, we present a genotypic and phenotypic spectrum of 33 patients with NM caused by NEB variants (NM-NEB) classified according to age groups and the use of ventilatory support. We focused on interventional support, genotype-phenotype correlation, and association between respiratory, bulbar, and motor systems in groups of patients stratified by age and by the use of ventilatory support (VS). MethodsClinical and genetic data from patients with NM-NEB followed up in one specialized center were collected through regular consultations. Patients were evaluated regarding motor, bulbar, and respiratory functions. ResultsThirty-three patients with NM-NEB were evaluated consisting of 15 females and 18 males with an average age of 18 (+/- 12) years and a median of 17 (+/- 11) years. 32% of patients with NM-NEB used a G tube, 35% were not able to walk without support, and 55% needed VS. Scoliosis and dysphagia were more common among patients who used VS. Described for the first time, half of the patients presented tongue atrophy in a triple furrow pattern, and the presence of the atrophy was associated with dysphagia. Comparing the patients grouped by age, we found that, proportionally, older patients had more scoliosis and respiratory dysfunction than younger groups, suggesting the progression of the disease in these domains. In addition to that, we showed that VS use was associated with scoliosis and dysphagia. DiscussionNM-NEB is a very debilitating disease. There is an association between scoliosis and respiratory dysfunction while patients using VS have more often scoliosis than the no-VS group. Triple furrow tongue atrophy is a novel and frequent finding, which is directly associated with dysphagia. Grouping patients by age suggested disease stability in motor and swallow function, but a progression in respiratory dysfunction and skeletal deformities. All observations are relevant in the management care of patients with NM.
- Air stacking: effects on pulmonary function in patients with spinal muscular atrophy and in patients with congenital muscular dystrophy(2014) MARQUES, Tanyse Bahia Carvalho; NEVES, Juliana de Carvalho; PORTES, Leslie Andrews; SALGE, Joao Marcos; ZANOTELI, Edmar; REED, Umbertina ContiObjective: Respiratory complications are the main causes of morbidity and mortality in patients with neuromuscular disease (NMD). The objectives of this study were to determine the effects that routine daily home air-stacking maneuvers have on pulmonary function in patients with spinal muscular atrophy (SMA) and in patients with congenital muscular dystrophy (CMD), as well as to identify associations between spinal deformities and the effects of the maneuvers. Methods: Eighteen NMD patients (ten with CMD and eight with SMA) were submitted to routine daily air-stacking maneuvers at home with manual resuscitators for four to six months, undergoing pulmonary function tests before and after that period. The pulmonary function tests included measurements of FVC; PEF; maximum insufflation capacity (MIC); and assisted and unassisted peak cough flow (APCF and UPCF, respectively) with insufflations. Results: After the use of home air-stacking maneuvers, there were improvements in the APCF and UPCF. In the patients without scoliosis, there was also a significant increase in FVC. When comparing patients with and without scoliosis, the increases in APCF and UPCF were more pronounced in those without scoliosis. Conclusions: Routine daily air-stacking maneuvers with a manual resuscitator appear to increase UPCF and APCF in patients with NMD, especially in those without scoliosis.
- Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid(2011) DARBAR, Illora A.; PLAGGERT, Paulo G.; RESENDE, Maria Bernadete D.; ZANOTELI, Edmar; REED, Umbertina C.Background: Spinal muscular atrophy (SMA) is an autosomal recessive disorder that affects the motoneurons of the spinal anterior horn, resulting in hypotonia and muscle weakness. The disease is caused by deletion or mutation in the telomeric copy of SMN gene (SMN1) and clinical severity is in part determined by the copy number of the centromeric copy of the SMN gene (SMN2). The SMN2 mRNA lacks exon 7, resulting in a production of lower amounts of the full-length SMN protein. Knowledge of the molecular mechanism of diseases has led to the discovery of drugs capable of increasing SMN protein level through activation of SMN2 gene. One of these drugs is the valproic acid (VPA), a histone deacetylase inhibitor. Methods: Twenty-two patients with type II and III SMA, aged between 2 and 18 years, were treated with VPA and were evaluated five times during a one-year period using the Manual Muscle Test (Medical Research Council scale-MRC), the Hammersmith Functional Motor Scale (HFMS), and the Barthel Index. Results: After 12 months of therapy, the patients did not gain muscle strength. The group of children with SMA type II presented a significant gain in HFMS scores during the treatment. This improvement was not observed in the group of type III patients. The analysis of the HFMS scores during the treatment period in the groups of patients younger and older than 6 years of age did not show any significant result. There was an improvement of the daily activities at the end of the VPA treatment period. Conclusion: Treatment of SMA patients with VPA may be a potential alternative to alleviate the progression of the disease.
bookPart O Desenvolvimento Normal do Sistema Nervoso Central(2015) REED, Umbertina Conti; REIMãO, Rubens- Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization(2022) GURGEL-GIANNETTI, Juliana; SOUZA, Lucas Santos; YAMAMOTO, Guilherme L.; BELISARIO, Marina; LAZAR, Monize; CAMPOS, Wilson; PAVANELLO, Rita de Cassia M.; ZATZ, Mayana; REED, Umbertina; ZANOTELI, Edmar; OLIVEIRA, Acary Bulle; LEHTOKARI, Vilma-Lotta; CASELLA, Erasmo B.; MACHADO-COSTA, Marcela C.; WALLGREN-PETTERSSON, Carina; LAING, Nigel G.; NIGRO, Vincenzo; VAINZOF, MarizNemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. Here, we compiled molecular and clinical data of 30 Brazilian patients from 25 unrelated families. Next-generation sequencing was able to genetically classify all patients: sixteen families (64%) with mutation in NEB, five (20%) in ACTA1, two (8%) in KLHL40, and one in TPM2 (4%) and TPM3 (4%). In the NEB-related families, 25 different variants, 11 of them novel, were identified; splice site (10/25) and frame shift (9/25) mutations were the most common. Mutation c.24579 G>C was recurrent in three unrelated patients from the same region, suggesting a common ancestor. Clinically, the ""typical"" form was the more frequent and caused by mutations in the different NM genes. Phenotypic heterogeneity was observed among patients with mutations in the same gene. Respiratory involvement was very common and often out of proportion with limb weakness. Muscle MRI patterns showed variability within the forms and genes, which was related to the severity of the weakness. Considering the high frequency of NEB mutations and the complexity of this gene, NGS tools should be combined with CNV identification, especially in patients with a likely non-identified second mutation.
conferenceObject PROPOSING OF A LESS COSTLY STRATEGY FOR MOLECULAR DIAGNOSIS OF CONGENITAL MYASTHENIC SYNDROME IN BRAZIL.(2018) ESTEPHAN, E. P.; SILVA, M. A. S.; ZAMBON, A. A.; REED, U. C.; TOPF, A.; LOCHMUELLER, H.; ZANOTELI, E.- Combining neuropsychological tests to improve the assessment of arithmetic difficulties in children with ADHD(2020) REZENDE, Angelo R. T.; PACHECO, Sandra P.; BRANCO, Sulamy C. C.; FERNANDES, Rosangela D. C.; BOLDRINI, Carla R.; DORIA FILHO, Ulysses; BAZAN, Paulo R.; AMARO JUNIOR, Edson; REED, Umbertina Conti; CASELLA, Erasmo BarbanteObjective: To compare the ways of evaluating arithmetic skills in Brazilian children with ADHD by combining three validated neuropsychological tests and determining whether they are sensitive to the methylphenidate treatment. Methods: Forty-two children (9-12 years old) participated in the present study: 20 were children with ADHD (DSM-IV) and 22 were age-matched controls. A classification criterion was used for each test separately and one,fortheir combination to detect the presence of arithmetic difficulties at two time points: baseline (time 1); and when children with ADHD were taking 0.3-0.5 mg/kg of methylphenidate (time 2). The study also assessed children's subtraction performance, combining parts of these tests. Results: Separately, the tests were only sensitive to differences between groups without medication. However, by combining the three neuropsychological tests, we observed a difference and detected a reduction in arithmetic difficulties associated with the methylphenidate treatment. The same effects were found in subtraction exercises, which require a borrowing procedure. Conclusions: The present study detected arithmetic difficulties in Brazilian children with ADHD and the effects of methylphenidate. Given this improvement in sensitivity, combining tests could be a promising alternative when working with limited samples.
conferenceObject Neuroimaging profile in pediatric Neuromyelitis Optica Spectrum Disorders (NMOSD)(2017) PAOLILO, R.; RIMKUS, C. D. M.; PAZ, J. A.; APOSTOLOS-PEREIRA, S. L.; ARAUJO, A. L. P. C.; GOMES, A. B.; VENTURA, L. M. Gomes De Brito; PITOMBEIRA, M. S.; MATOS, A. D. M. B.; REED, U. C.; CALLEGARO, D.; SATO, D. K.