Myotonic dystrophy
Role of myotonic dystrophy protein kinase (DMPK) in glucose homeostasis and muscle insulin action.
... Type 2 diabetes is a heterogeneous disease and a major international public health threat. It is widely accepted that type 2 diabetes results from a combination of genetic susceptibility and other risk factors including ...
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Intraocular pressure, corneal thickness, and corneal hysteresis in Steinert's myotonic dystrophy
... Steinert’s myotonic dystrophy (dystrophy group) and 12 eyes of 6 age-, race-, and gender-matched healthy volunteers (control group) were included in the ...
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PHYSIOTHERAPY PRACTICE IN THE NEUROMUSCULAR REHABILITATION PROCESS OF STEINERT’S MYOTONIC DYSTROPHY – CASE REPORT
... Steinert’s myotonic dystrophy, and its impact in the quality of life of patients with this ...Steinert’s myotonic dystrophy, took part in this ...myotonic dystrophy. Descriptors: ...
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A tail-anchored myotonic dystrophy protein kinase isoform induces perinuclear clustering of mitochondria, autophagy, and apoptosis.
... on Tg26-hDMPK mice, overexpressing tail-anchored hDMPK isoforms especially in heart and skeletal muscle, showed disorga- nized cristae structure and symptoms like reduced workload tolerance, atrophy, hypertrophic ...
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J. Pediatr. (Rio J.) vol.85 número5 en v85n5a03
... The young patients were reviewed on average twice a year by a multidisciplinary team consisting of three to ive doctors (at least one of them senior), one to three specialist physiotherapists, two pediatric nurses, one ...
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Arq. NeuroPsiquiatr. vol.75 número11
... muscular dystrophy 157 (9.79%), Steinert myotonic dystrophy 138 ...muscular dystrophy 99 ...muscular dystrophy subtype diagnosis was reached in 61% of the ...
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Arq. NeuroPsiquiatr. vol.65 número1
... The P300 differ between the two groups, al- though statistical significance was not reached. Previous results for P300 potentials and dystrophi- nopathies come from myotonic dystrophy patients. Kazis et al. ...
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Arq. NeuroPsiquiatr. vol.57 número3A
... ABSTRACT - This study presents the performance of 39 cases of myotonic dystrophy on Kohs’ blocks test (21 females and 18 males, age range from 9 to 70 years). On this test, the patients have to reproduce ...
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Rev. Bras. Anestesiol. vol.60 número2 en v60n2a11
... Keywords: COMPLICATIONS, Postoperative: respiratory failure; DISEASES, Muscular: myotonic dystrophy; SURGERY, abdominal: cholecystectomy.. RESUMO.[r] ...
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Arq. Bras. Cardiol. vol.84 número4 en a11v84n4
... of myotonic dystrophy, the prevalence of arrhythmic events or conduction dis- turbances was 50% and worsened after a 6-year follow-up (80%), and a significant occurrence of first-degree AVB and ...
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Arq. NeuroPsiquiatr. vol.72 número11
... A 57-year-old woman presented with a 4-years history of progressive weakness, distal muscular atrophy and myotonia in left hand (Figure 1). Her electromyography had a myo- tonic pattern. Patient was first diagnosed as ...
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Arq. NeuroPsiquiatr. vol.74 número3
... Myotonic dystrophy type 1 (DM1) is a cytosine-thymine-guanine [CTG]n triplet disorder inherited as autosomal dominant mode with multisystem variable ...
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Arq. NeuroPsiquiatr. vol.50 número4
... 1. Bonilla E, Schmidt B, Samitt CE, Miranda AF, Hays AP, Oliveira ASB, Chang HW, Servidei S, Ricci E, Younger DS, DiMauro S. Normal and dystrophin deficient muscle fibers in carriers of the gene for Duchenne muscular ...
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Diagnostic and Therapeutic Challenges in Schnyder’s Crystalline Dystrophy: A Family Report
... This is a rare stromal dystrophy first described in three generations of a single family by Van Went and Wibaut, and the characteristics were further clarified by Schnyder. SCCD has previously been reported to be ...
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Dysphagia in Duchenne muscular dystrophy: practical recommendations to guide management
... forms of dysphagia are related to poor neurological coordination of swallowing function which is often a risk factor for aspiration during fluid intake.[6] Instead the neuromuscular form[r] ...
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Estudo da proteína urinária em cães Golden Retriever Muscular Dystrophy (GRMD), através...
... Muscular Dystrophy (DMD) is a lethal childhood disease, a X-linked recessive disorder, caused by mutations of the dystrophyn gene, a protein that has a vital role in maintaining muscle structure and ...Muscular ...
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PDF EN Jornal Brasileiro de Pneumologia 6 14 english
... Objective: To evaluate mouthpiece ventilation (MPV) in patients with Duchenne muscular dystrophy (DMD) who are noncompliant with noninvasive ventilation (NIV). Methods: We evaluated four young patients with DMD ...
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Effect of Citrus aurantium l. essential oil on muscle regeneration in mdx mice
... muscular dystrophy (DMD) is a severe X-linked recessive disorder characterized by the progressive loss of muscular ...muscular dystrophy, which enables them to live longer and be more active, while there is ...
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UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.
... Co-localization of SCD mutant UBIAD1 protein and OXPHOS complex I mitochondrial marker in disease keratocytes (Figure 5A– 5C) and normal human keratocytes (Figure 5D–F) is shown.. Analys[r] ...
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