Umbertina Conti Reed
- Lung function monitoring in patients with duchenne muscular dystrophy on steroid therapyDarlene L Machado
Department of Neurology, Medical School of the University of São Paulo, Av, Dr, Enéas de Carvalho Aguiar 255, room 5131, Cerqueira Cesar, Sao Paulo, 05403900, Brazil
BMC Res Notes 5:435. 2012..After 12 years of age, lung function declines at a rate of 6 % to 10.7 % per year in patients with DMD. Steroid therapy has been proposed to delay the loss of motor function and also the respiratory involvement...
- Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acidIllora A Darbar
Department of Neurology, Medical School of the University of São Paulo, Sao Paulo, Brazil
BMC Neurol 11:36. 2011..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...
- Schwartz-Jampel syndrome: report of five casesUmbertina Conti Reed
Department of Neurology, School of Medicine, Sao Paulo University, Sao Paulo, SP, Brasil
Arq Neuropsiquiatr 60:734-8. 2002..Carbamazepine in SJS-type 1 improves general daily performance and psychological status of the patients...
- Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectivesUmbertina Conti Reed
Departamento de Neurologia, Universidade de Sao Paulo, SP, Brazil
Arq Neuropsiquiatr 67:343-62. 2009....
- Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspectsUmbertina Conti Reed
Departamento de Neurologia, Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, SP, Brazil
Arq Neuropsiquiatr 67:144-68. 2009..The second part of this review concerning the pathogenesis and therapeutic perspectives of the different subtypes of CMD will be described in a next number...
- Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneityUmbertina Conti Reed
Departamento de Neurologia, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brasil
Arq Neuropsiquiatr 63:785-90. 2005..A mild or moderate involvement can be occasionally observed...
- King-Denborough Syndrome: report of two Brazilian casesUmbertina Conti Reed
Department of Neurology, Clinicas Hospital, School of Medicine, University of Sao Paulo, Sao Paulo, SP, Brazil
Arq Neuropsiquiatr 60:739-41. 2002..These cases correspond to the first Brazilian reports of the King-Denborough syndrome and our objective is increasing the awareness of this disorder as these patients are predisposed to developing malignant hyperthermia...
- Dystrophin-glycoproteins associated in congenital muscular dystrophy: immunohistochemical analysis of 59 Brazilian casesLucio Gobbo Ferreira
Departamento de Neurologia, Faculdade de Medicina, , , Brasil
Arq Neuropsiquiatr 63:791-800. 2005....
- Comparison of motor strength and function in patients with Duchenne muscular dystrophy with or without steroid therapySamara Lamounier Santana Parreira
Department of Neurology, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil
Arq Neuropsiquiatr 68:683-8. 2010..To compare muscle strength (MS) and motor function in patients with Duchenne muscular dystrophy (DMD) receiving steroids for different times against the natural evolution of DMD described by Scott et al...
- Phenotypic and immunohistochemical characterization of sarcoglycanopathiesAna F B Ferreira
Department of Neurology, Laboratory of Investigation in Neurology, Faculty of Medicine, University of Sao Paulo, Sao Paulo, Brazil
Clinics (Sao Paulo) 66:1713-9. 2011..Therefore, determining the etiology of a given sarcoglycanopathy requires costly and occasionally inaccessible molecular methods...
- Quantification of muscle strength and motor ability in patients with Duchenne muscular dystrophy on steroid therapySamara Lamounier Santana Parreira
Department of Neurology, Medical School, University of Sao Paulo, Sao Paulo, SP, Brazil
Arq Neuropsiquiatr 65:245-50. 2007..An assessment protocol was applied to quantify and describe muscular strength and motor abilities of 32 patients with Duchenne muscular dystrophy (DMD), aged between 5 and 12 years on steroid therapy...
- Duchenne muscular dystrophy: quality of life among 95 patients evaluated using the Life Satisfaction Index for AdolescentsValdecir A Simon
Department of Neurology, School of Medicine, University of Sao Paulo, SP, Brazil
Arq Neuropsiquiatr 69:19-22. 2011..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...
- Air stacking: effects on pulmonary function in patients with spinal muscular atrophy and in patients with congenital muscular dystrophyTanyse Bahia Carvalho Marques
Hospital das Clinicas, School of Medicine, University of Sao Paulo, Sao Paulo, Brazil
J Bras Pneumol 40:528-34. 2014....
- Is functional dependence of Duchenne muscular dystrophy patients determinant of the quality of life and burden of their caregivers?Maria Clara Drummond Soares de Moura
Departamento de Fisioterapia, Fonoaudiologia e Terapia Ocupacional, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil
Arq Neuropsiquiatr 73:52-7. 2015..This study investigated possible relationships between functional dependence/QOL of DMD patients and QOL/burden of caregivers...
- Impact of benign childhood epilepsy with centrotemporal spikes (BECTS) on school performanceCarmen Silvia Molleis Galego Miziara
Department of Pediatric Neurology, Hospital das Clínicas Faculty of Medicine, Sao Paulo University, Sao Paulo, Brazil
Seizure 21:87-91. 2012..Owing to the age peculiarity of children who suffer from this disease, i.e., school-going age of between 6 and 9 years, the condition is often referred to as a school disorder by parents and teachers...
- [Pitfalls in the clinical and electroencephalographic diagnosis of ceroid lipofuscinosis]Cleurecy Oliveira Vasques
Divisão de Clínica Neurológica, Hospital das Clinicas, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil
Arq Neuropsiquiatr 63:93-6. 2005..Electroencephalogram is useful for clinical diagnosis of NCL but it is not helpful in its classification...
- Further diffusion tensor imaging contribution in horizontal gaze palsy and progressive scoliosisMaria Conceptión García Otaduy
Department of Radiology, Hospital das Clinicas, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil
Arq Neuropsiquiatr 67:1054-6. 2009..Those findings can contribute as surrogate markers for the diagnosis...