Results 21 to 30 of about 449 (134)

Pressão intraocular, espessura corneal e histerese corneal em distrofia miotônica de Steinert [PDF]

open access: yes, 2011
PURPOSE: Low intraocular pressure (IOP) measured by Goldmann applanation tonometry (GAT) is one of the ocular manifestations of Steinert's myotonic dystrophy.
Doi, Larissa Morimoto   +4 more
core   +2 more sources

Tamaño de repeticiones CTG no aumentado en la transmisión de un padre con alelo expandido: falsa sospecha de fenómeno de contracción

open access: yesAdvances in Laboratory Medicine, 2023
La distrofia miotónica tipo 1, conocida también como enfermedad de Steinert, es un desorden multisistémico crónico, degenerativo e incapacitante de expresividad clínica muy variable provocado por una expansión heredada de manera autosómica dominante de ...
Goñi Ros Nuria   +4 more
doaj   +1 more source

Sleep hypoventilation [PDF]

open access: yes, 2010
Sleep hypoventilation is seen in patients with neuromuscular disease, as well as in those with obesity hypoventilation syndrome (OHS), which is defined as the combination of obesity, chronic hypercapnia, and hypoxemia during wakefulness that is ...
Fontes, Francisco Hora   +1 more
core   +2 more sources

Falla cardiaca y flutter auricular como manifestación de distrofia miotónica tipo 1

open access: yesRevista Colombiana de Cardiología, 2015
La distrofia miotónica es una enfermedad hereditaria del sistema neuromuscular con afección cardiaca, se presenta fundamentalmente con alteraciones del ritmo y conducción auriculoventricular y rara vez insuficiencia cardiaca.
Andrés Restrepo   +4 more
doaj   +1 more source

Periodic paralysis: anatomo-pathology of skeletal muscle of 14 patients [PDF]

open access: yes, 1994
Periodic paralysis is a rare disease, characterized by transient weakness associated with abnormal levels of serum potassium. Muscle biopsy may show a wide range of abnormalities, vacuoles being more specifically linked to the disease.
Gabbai, Alberto Alain   +5 more
core   +3 more sources

Distrofia miotónica.

open access: yesActa Médica Portuguesa, 1997
The authors present two cases of myotonic dystrophy (Steinert's disease) with cardiac involvement in young adults. They point out the rareness of this disease, the multisystemic involvement and also the diagnostic problems in the absence of the classic ...
A Leite   +5 more
doaj   +1 more source

Importance of three-dimensional speckle tracking in the assessment of left atrial and ventricular dysfunction in patients with myotonic dystrophy type 1

open access: yesRevista Portuguesa de Cardiologia, 2018
Introduction and Aim: Myotonic dystrophy type 1 (DM1) is a multisystem disease in which cardiac involvement is common. The aim of this study was to identify early changes in left atrial (LA) mechanics and left ventricular (LV) systolic function in ...
Henrique Guedes   +7 more
doaj   +1 more source

Heart rate variability in myotonic dystrophy type 1 patients [PDF]

open access: yes, 2012
Background: Cardiac involvement is common in myotonic dystrophy (MD) patients. Heart rate variability (HRV) is a simple and reliable technique that can be useful for studying the influence of the autonomic nervous system on the heart.
Araújo, Thaise Lucena   +5 more
core   +1 more source

Gastroparesia diabética [PDF]

open access: yes, 1997
Universidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Disciplinas de Endocrinologia e MetabologiaUniversidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Disciplinas de Epidemiologia ClínicaUNIFESP, EPM, Disciplinas de ...
Cesarini, Paulo Roberto   +2 more
core   +2 more sources

Home - About - Disclaimer - Privacy