Myotonic Dystrophy
Mostrando 1-12 de 188 artigos, teses e dissertações.
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1. Translational Medicine – New Frontiers in Cardiology
Abstract Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-
Int. J. Cardiovasc. Sci.. Publicado em: 2020-10
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2. Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome,
Abstract Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-
An. Bras. Dermatol.. Publicado em: 2020-10
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3. Splenic hamartoma associated with visceral leishmaniasis mimicking aggressive lymphoma
Abstract Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-
Hematol., Transfus. Cell Ther.. Publicado em: 2020-10
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4. Desempenho longitudinal da deglutição orofaríngea na distrofia miotônica tipo 1
RESUMO Este estudo teve por objetivo descrever o desempenho longitudinal da deglutição orofaríngea em indivíduo com distrofia miotônica tipo 1. Estudo de caso único de indivíduo de 66 anos, sexo masculino, com diagnóstico neurológico em 2010. Realizou a primeira avaliação clínica e objetiva da deglutição após quatro anos do diagnóstico neurol
Audiol., Commun. Res.. Publicado em: 04/11/2019
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5. Advances and perspectives of mechanomyography
INTRODUCTION: The evaluation of muscular tissue condition can be accomplished with mechanomyography (MMG), a technique that registers intramuscular mechanical waves produced during a fiber's contraction and stretching that are sensed or interfaced on the skin surface. OBJECTIVE: Considering the scope of MMG measurements and recent advances involving the tech
Rev. Bras. Eng. Bioméd.. Publicado em: 2014-12
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6. Caracterização da deglutição em portadores de distrofia miotônica de Steinert / Characterization of swallowing in patients with myotonic dystrophy of Steinert
INTRODUÇÃO: A disfagia orofaríngea e os distúrbios de motilidade esofágica são considerados as mais importantes causas de pneumonia aspirativa em pacientes com distrofia miotônica. O objetivo deste estudo foi avaliar as características clínicas da motricidade orofacial e a deglutição de indivíduos com distrofia miotônica (DM1), utilizando um pro
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 07/11/2012
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7. Distrofia miotônica tipo 1 estudo de imagem cerebral, aspectos psicológicos, psicométricos e qualidade de vida / Myotonic dystrophy type 1 brain imaging study, psychological, psychometrics aspects and quality of life
Introdução: A Distrofia Miotônica tipo 1 (DM1) é doença conseqüente a repetição de tripletos CTG, locus 19 q13.2-13.3, com manifestações sistêmicas entre as quais as neuromusculares são as mais limitantes e estudadas. O comprometimento cerebral e suas repercussões neuropsicológicas e na qualidade de vida é bem menos conhecido e dimensionado. O
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 30/08/2010
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8. Força muscular respiratória, qualidade de vida e modulação autonômica da frequência cardíaca na distrofia miotônica
Background: The myotonic dystrophy (MD) is a multisystem neuromuscular disease that can affect the respiratory muscles and heart function, and cause impairment in quality of life. Objectives: Investigate the changes in respiratory muscle strength, health-related quality of life (HRQoL) and autonomic modulation heart rate (HR) in patients with MD. Methods: Tw
Publicado em: 2009
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9. Gait analysis in myotonic dystrophy type 1 : spatiotemporal and kinematics parameters / Estudo da marcha da distrofia miotonica tipo 1 : parametros espaciais, temporais e cinematica
Myotonic Dystrophy type 1 is a multisystemic disease that frequently affects the striated muscle with repercussion on gait. Gait function may be very abnormal or exhibit subtle alterations of difficult characterization by the human eyes. With objective to analyse the spatiotemporal and kinematics variables parameters of gait in patients affected by the disea
Publicado em: 2008
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10. Analysis of the DMPK gene CTG repeat in healthy Brazilians
Myotonic dystrophy (DM) is a neuromuscular disorder caused by the expansion of the cytosine-thymine-guanine (CTG) repeat of the myotonic dystrophy protein kinase gene (DMPK). This repeat is highly polymorphic in healthy individuals [(CTG)5-37], and it has been proposed that expanded CTG alleles originated from larger sized normal alleles [(CTG)19-37]. Accord
Genetics and Molecular Biology. Publicado em: 2007
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11. Magnetic resonance imaging of masticatory muscles and temporomandibular joint in myotonic dystrophy patients (Steinert's disease)
Arquivos de Neuro-Psiquiatria. Publicado em: 2001-12
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12. Paternal transmission of congenital myotonic dystrophy.
The congenital form of myotonic dystrophy is reported to be almost exclusively, if not exclusively, maternally transmitted. We present a case of congenital myotonic dystrophy which was inherited from a mildly affected father. This family illustrates that the congenital form of myotonic dystrophy can occur without intrauterine or other maternal factors relate