muscular dystrophies/edema

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Acute pulmonary edema as the inaugural symptom of Becker's muscular dystrophy in a 19-year-old patient.

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A 19-year-old male presenting with acute pulmonary edema and severe biventricular heart failure was diagnosed as having Becker's muscular dystrophy. This case is remarkable in that congestive heart failure had not been largely preceded by neuromuscular symptoms.

Skeletal muscle edema in muscular dystrophy: clinical and diagnostic implications.

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Muscle degeneration in muscular dystrophies often includes a period of edema before fatty replacement of muscle tissue. Magnetic resonance imaging (MRI) has been used successfully to characterize muscle and fat patterns in several types of muscular dystrophies. Recent MRI techniques enable

Permanent muscular sodium overload and persistent muscle edema in Duchenne muscular dystrophy: a possible contributor of progressive muscle degeneration.

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To assess the presence and persistence of muscular edema and increased myoplasmic sodium (Na(+)) concentration in Duchenne muscular dystrophy (DMD). We examined eight DMD patients (mean age 9.5 ± 5.4 years) and eight volunteers (mean age 9.5 ± 3.2 years) with 3-tesla proton ((1)H) and (23)Na

[Four cases of Fukuyama type congenital muscular dystrophy with edema].

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Duchenne muscular dystrophy carriers. Proton spin-lattice relaxation times of skeletal muscles on magnetic resonance imaging.

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By means of magnetic resonance imaging (MRI), the proton spin-lattice relaxation times (T1 values) of the skeletal muscles were measured in Duchenne muscular dystrophy (DMD) carriers and normal controls. The bound water fraction (BWF) was calculated form the T1 values obtained, according to the fast

Lethal congenital muscular dystrophy with arthrogryposis multiplex congenita: three new cases and review of the literature.

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Congenital muscular dystrophy (CMD) comprises a heterogeneous group of muscle disorders. We report on two stillborn sibs with early lethal CMD and a prematurely born boy who died within minutes after birth. The pregnancies were complicated by polyhydramnios. All presented with arthrogryposis

Birdshot chorioretinopathy in a male patient with facioscapulohumeral muscular dystrophy.

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We report a case of birdshot chorioretinopathy (BSCR) in a patient with facioscapulohumeral muscular dystrophy (FSHD). A 40-year-old male with history of facioscapulohumeral muscular dystrophy with significant facial diplegia and lagophthalmos presents for an evaluation of bilateral choroiditis with

Sensitive ultrasonic detection of dystrophic skeletal muscle in patients with duchenne muscular dystrophy using an entropy-based signal receiver.

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The dystrophinopathies comprise a group of X-linked genetic diseases that feature dystrophin deficiency. Duchenne and Becker muscular dystrophy are characterized by progressive weakness and wasting of skeletal, smooth, and/or cardiac muscle. Duchenne muscular dystrophy (DMD) is the most severe

Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy.

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Mutations in LMNA, which encodes nuclear lamins A and C, cause a broad range of diseases, including autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) and related disorders with a predominant cardiomyopathy. Homozygous Lmna model "knock-in" and null mice develop cardiomyopathy, whereas

Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patients

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Patients with bi-allelic loss-of-function mutations in the gene ANO5 most commonly present with muscular dystrophy. In some studies, patients with ANO5-related dystrophy (ANO5-RD) had evidence of mild cardiac abnormalities; however, cardiac magnetic resonance imaging (MRI) has not been used for

[Cardiologic findings in Hauptmann-Thannhauser muscular dystrophy (autosomal dominant Emery-Dreifuss muscular dystrophy)].

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METHODS A 19-year-old man with congestive heart failure reported recent onset of exercise-induced dyspnea and pitting edema of the face. He also developed increasing muscular weakness. Three years before the diagnosis of autosomal-dominant Emery-Dreifuss muscular dystrophy (EDMD) had been

Thallium-201 single photon emission computed tomography (SPECT) in patients with duchenne's progressive muscular dystrophy: a histopathologic correlation study.

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The pathomorphologic mechanism responsible for abnormal perfusion imaging during thallium-201 myocardial single photon emission computed tomography (201Tl-SPECT) in patients with Duchenne's progressive muscular dystrophy (DMD) was investigated. Hearts from 7 patients with DMD were evaluated

Myocarditis in Duchenne Muscular Dystrophy After Changing Steroids.

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UNASSIGNED Cardiac dysfunction is a leading cause of morbidity and mortality in Duchenne muscular dystrophy (DMD). This case highlights the importance of steroids in treating cardiac complications of DMD and the dangers of discontinuing or switching between steroid classes. UNASSIGNED To recognize

Sodium (23Na) MRI detects elevated muscular sodium concentration in Duchenne muscular dystrophy.

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OBJECTIVE In boys with Duchenne muscular dystrophy (DMD), (1)H MRI suggested muscular edema before fatty degeneration. Using specific (23)Na MRI sequences, we tested the hypothesis that the edema is caused by an osmotic effect due to increased myoplasmic Na(+) content rather than inflammation that

[Correlation between thigh muscle magnetic resonance imaging findings and clinical features of congenital muscular dystrophies: a preliminary study].

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Objective: To analyze the clinical and magnetic resonance imaging (MRI) features of congenital muscular dystrophy (CMD) to improve the diagnostic level. Method: Clinical manifestations and thigh muscle MRI results of 8 cases of CMD diagnosed on genetic level from April 2013 to November 2015 were

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