UMBERTINA CONTI REED

(Fonte: Lattes)
Índice h a partir de 2011
17
Lattes
ORCID
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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

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  • article 37 Citação(ões) na Scopus
    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.
  • article 14 Citação(ões) na Scopus
    Phenotypic and immunohistochemical characterization of sarcoglycanopathies
    (2011) FERREIRA, Ana F. B.; CARVALHO, Mary S.; RESENDE, Maria Bernadete D.; WAKAMATSU, Alda; REED, Umbertina Conti; MARIE, Suely Kazue Nagahashi
    INTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of progression, and intensity of symptoms. Sarcoglycanopathies, which are a subgroup of the limb-girdle muscular dystrophies, are caused by mutations in sarcoglycan genes. Mutations in these genes cause secondary deficiencies in other proteins, due to the instability of the dystrophin-glycoprotein complex. Therefore, determining the etiology of a given sarcoglycanopathy requires costly and occasionally inaccessible molecular methods. OBJECTIVE: The aim of this study was to identify phenotypic differences among limb-girdle muscular dystrophy patients who were grouped according to the immunohistochemical phenotypes for the four sarcoglycans. METHODS: To identify phenotypic differences among patients with different types of sarcoglycanopathies, a questionnaire was used and the muscle strength and range of motion of nine joints in 45 patients recruited from the Department of Neurology - HC-FMUSP (Clinics Hospital of the Faculty of Medicine of the University of Sao Paulo) were evaluated. The findings obtained from these analyses were compared with the results of the immunohistochemical findings. RESULTS: The patients were divided into the following groups based on the immunohistochemical findings: alpha-sarcoglycanopathies (16 patients), beta-sarcoglycanopathies (1 patient), gamma-sarcoglycanopathies (5 patients), and non-sarcoglycanopathies (23 patients). The muscle strength analysis revealed significant differences for both upper and lower limb muscles, particularly the shoulder and hip muscles, as expected. No pattern of joint contractures was found among the four groups analyzed, even within the same family. However, a high frequency of tiptoe gait was observed in patients with alpha-sarcoglycanopathies, while calf pseudo-hypertrophy was most common in patients with non-sarcoglycanopathies. The alpha-sarcoglycanopathy patients presented with more severe muscle weakness than did gamma-sarcoglycanopathy patients. CONCLUSION: The clinical differences observed in this study, which were associated with the immunohistochemical findings, may help to prioritize the mutational investigation of sarcoglycan genes.
  • article 19 Citação(ões) na Scopus
    Duchenne muscular dystrophy Quality of life among 95 patients evaluated using the Life Satisfaction Index for Adolescents
    (2011) SIMON, Valdecir A.; RESENDE, Maria Bernardete Dutra; SIMON, Margarete A. V. P.; ZANOTELI, Edmar; REED, Umbertina Conti
    The purpose of this study was to evaluate the quality of life (QoL) of patients with Duchenne muscular dystrophy (DMD) in different stages of the disease, by means of the Life Satisfaction Index for Adolescents (LSI-A). The practicality of this scale was also verified. The LSI-A was applied four times to 95 patients with DMD who were undergoing steroid therapy, at three-month intervals. The patients were divided into four groups according to age. The results from the four applications and the inter and intra-examiner concordance were treated statistically. Comparing the different age groups, patients with DMD did not lose QoL, even with disease progression. We concluded that, in spite of the progressive course of the disease, the QoL in patients with DMD does not get worse. The use of a scale that embraces a great diversity of circumstances in patients' lives, without considering clinical aspects excessively, is a good alternative for assessing the QoL of these patients.