Results 11 to 20 of about 252 (114)

Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review [PDF]

Arquivos de Neuro-Psiquiatria, 2023
Limb-girdle muscular dystrophy (LGMD) is a group of myopathies that lead to progressive muscle weakness, predominantly involving the shoulder and pelvic girdles; it has a heterogeneous genetic etiology, with variation in the prevalence of subtypes ...
Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Renata Dal-Pra Ducci, Otto Jesus Hernandez Fustes, Paula Raquel do Vale Pascoal Rodrigues, Nyvia Milicio Coblinski Hrysay, Raquel Cristina Arndt, Lineu Cesar Werneck, Rosana Herminia Scola   +8 more
doaj   +2 more sources

Paul Hoffmann and the cutaneous silent period test [PDF]

Arquivos de Neuro-Psiquiatria
We herein present aspects of the biography of Professor Paul Hoffmann, covering his main works, mainly the article describing the cutaneous silent period, a new technique when it was published in 1922, with a review of its importance, its role in ...
Otto Jesus Hernández Fustes, Cláudia Suemi Kamoi Kay, Paulo José Lorenzoni, Renata Dal-Prá Ducci, Paula Raquel do Vale Pascoal Rodrigues, Rosana Herminia Scola   +5 more
doaj   +2 more sources

Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil [PDF]

Arquivos de Neuro-Psiquiatria
Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive inherited disorder related to lipid metabolism affecting skeletal muscle. The first cases of CPT II deficiency causing myopathy were reported in 1973.
Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Renata Dal-Pra Ducci, Otto Jesus Hernandez Fustes, Paula Raquel do Vale Pascoal Rodrigues, Raquel Cristina Arndt, Rosana Herminia Scola, Lineu Cesar Werneck   +7 more
doaj   +2 more sources

Establishing a Research Agenda for Physiotherapy in Portugal: A Delphi Study. [PDF]

Physiother Res Int
ABSTRACT Background As physiotherapy research advances, identifying knowledge gaps and setting priorities is crucial for enhancing its efficiency in national and international collaborations. This study aimed to establish a physiotherapy research agenda in Portugal by integrating perspectives from physiotherapists and users of physiotherapy services ...
Silva I, Souto-Miranda S, Ribeiro F, Pires D, Coutinho MJ, Cordeiro N, Cruz E, Jácome C.   +7 more
europepmc   +2 more sources

Charcot-Marie-Tooth disease: from historical landmarks in Brazil to current care perspectives [PDF]

Arquivos de Neuro-Psiquiatria, 2023
Hereditary motor and sensory neuropathy, also known as Charcot-Marie-Tooth disease (CMT), traditionally refers to a group of genetic disorders in which neuropathy is the main or sole feature.
Eduardo Boiteux Uchôa Cavalcanti, Rita de Cássia Carvalho Leal, Wilson Marques Junior, Osvaldo José Moreira do Nascimento   +3 more
doaj   +2 more sources

Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy [PDF]

Arquivos de Neuro-Psiquiatria, 2023
In the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have been published and recently reviewed.
Alexandra Prufer de Queiroz Campos Araujo, Jonas Alex Morales Saute, Clarisse Pereira Dias Drumond Fortes, Marcondes Cavalcante França Jr, Jaqueline Almeida Pereira, Marco Antonio Veloso de Albuquerque, Alzira Alves de Siqueira Carvalho, Eduardo Boiteux Uchôa Cavalcanti, Anna Paula Paranhos Miranda Covaleski, Simone Chaves Fagondes, Juliana Gurgel-Giannetti, Marcus Vinicius Magno Gonçalves, Alberto Rolim Muro Martinez, Antônio Rodrigues Coimbra Neto, Flavio Reis Neves, Anamarli Nucci, Ana Paula Cassetta dos Santos Nucera, Andre Luis Santos Pessoa, Marcos Ferreira Rebel, Flavia Nardes dos Santos, Rosana Herminia Scola, Cláudia Ferreira da Rosa Sobreira   +21 more
doaj   +2 more sources

Triple-seronegative myasthenia gravis: clinical and epidemiological characteristics [PDF]

Arquivos de Neuro-Psiquiatria
Background Myasthenia gravis (MG) is an autoimmune disease usually caused by antibodies against the acetylcholine receptor (AChR-Abs), muscle-specific tyrosine kinase (MuSK-Abs), or low-density lipoprotein receptor-related protein 4 (LRP4-Abs).
Paula Raquel do Vale Pascoal Rodrigues, Cláudia Suemi Kamoi Kay, Renata Dal-Pra Ducci, Marco Antonio Takashi Utiumi, Otto Jesus Hernandez Fustes, Lineu Cesar Werneck, Paulo José Lorenzoni, Rosana Herminia Scola   +7 more
doaj   +2 more sources

Hematomas intracerebral espontâneos estudo de 121 casos

Arquivos de Neuro-Psiquiatria, 1991
Foram analisados retrospectivamente 121 pacientes com hematomas intracerebrais espontâneos (HIE): com média de idade de 53,4 ±14,8 anos, 62,8% do sexo masculino, tempo médio de sangramento na admissão de 36 horas (3 horas a 12 dias); 63,5% estavam acima ...
Lineu Cesar Werneck, Rosana Hermínia Scola, Leila Elizabeth Ferraz   +2 more
doaj   +1 more source

Treatment of sleep central apnea with non-invasive mechanical ventilation with 2 levels of positive pressure (bilevel) in a patient with myotonic dystrophy type 1

Sleep Science, 2014
We are reporting a case of a 29 year-old female with diagnosis of myotonic dystrophy type 1 (Steinert's disease) with excessive daytime sleepiness, muscle fatigue, snoring, frequent arousals, non-restorative sleep, and witnessed apneas.
Ricardo Tera Akamine, Luís Fernando Grossklauss, Gustavo Antonio Moreira, Marcia Pradella-Hallinan, Marco Antônio Chiéia, Denis Mesquita, Acary Souza Bulle Oliveira, Sergio Tufik   +7 more
doaj   +1 more source

Acupuntura para dor em doenças neuromusculares – Síndrome Wei

Revista Brasileira de Medicina de Família e Comunidade, 2012
A síndrome pós poliomielite afeta indivíduos com história de poliomielite cerca de 30 anos após o acometimento inicial. Trata-se de piora da fraqueza muscular, fadiga, atrofia, alterações do sono, intolerância ao frio, dor, ganho de peso, dentre outros ...
Gislaine Cristina Abe, Paulo Eduardo Ramos, Sissy Veloso Fontes, Márcia Lurdes de Cácia Pradella Hallinan, Ivelise Padilla, Celso Antonio de Souza Mello, Bruna Terumi Sato Yonamine, Acary Souza Bulle Oliveira   +7 more
doaj   +1 more source