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 147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The strongly succinate dehydrogenase-reactive blood vessels (SSV) are shown to have increased numbers of enlarged mitochondria in smooth muscle cells of the vessel wall on electron microscopy. They are seen in biopsied skeletal muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) at high frequency. The present study was done to examine the incidence of SSV in biopsied muscles from various neuromuscular diseases. Among 107 patients with mitochondrial encephalomyopathies (MEM) including 50 with chronic progressive external ophthalmoplegia (CPEO), 7 with myoclonus epilepsy with ragged-red fibers (MERRF), and 50 with MELAS, SSV were seen in nearly a half of the patients, and comprised approximately 24% of small arteries. On the other hand, SSV in 100 patients with various neuromuscular diseases other than MEM were exceptional, and only one of 8 patients with myotonic dystrophy had SSV. These findings suggest that the SSV are induced by functional abnormality of mitochondria in smooth muscle cells, and that an identification of the SSV is an additional crucial evidence to make a pathological diagnosis of MEM.
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PMID:[Strongly succinate dehydrogenase-reactive blood vessels (SSV) in various neuromuscular diseases]. 142 48

The cyclic alternations of wakefulness and sleep competing for the domain of brain activity are controlled by neuronal systems contained in the core of the brainstem, hypothalamus, thalamus, and basal forebrain. This organization encompasses complex neuroanatomic, neurophysiologic, and neurochemical mechanisms that are subject to disruption from within, or as a result of incidental alterations of appropriate brain centers. The first section of this article reviews the wake-sleep disturbances that occur with lesions in defined neuroanatomic structures involved in sleep mechanisms, such as the brainstem, hypothalamus, thalamus, and cerebral hemispheres. The second section gives an overview of specific sleep alterations associated with neurologic disorders. These include stroke, Parkinson's disease, degenerative systemic disorders, multiple sclerosis, myotonic dystrophy, myasthenia gravis, brain tumors, head trauma, coma, epilepsy, and headache syndromes.
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PMID:Neuroanatomic and neurologic correlates of sleep disturbances. 163 Jun 35

Twenty patients with different types of muscular dystrophy (MD) were included in a cross-sectional study by means of electrocardiography and ultrasound cardiography. A manifest cardiomyopathy was detected in 8 patients; a latent cardiomyopathy was found in 4. A hypertrophic cardiomyopathy was especially frequent in facioscapulohumeral MD, a congestive cardiomyopathy in Becker-Kiener MD. The ECG showed a reduction in the QT interval and frequent block formers in the X-chromosomal inherited forms and the trunc-girdle form. Bradycardia and a prolonged QT interval were frequent in myotonic dystrophy and facioscapulohumeral MD. Signs of cardiac infarction in the ECG were most frequent in the trunc-girdle forms. A high cardiac output per minute in conjunction with increased left ventricular volume was frequent in Becker-Kiener and Landouzy MD. A left ventricular dysfunction with reduced ejection was characteristic of myotonic dystrophy and trunc-girdle MD. A mitral valve prolapse was more frequent with increasing severity of the muscle disease and was particularly frequent in myotonic dystrophic and Landouzy MD. The cardiac output per minute and the stroke volume were significantly lower (P less than or equal to 0.03) where a mitral valve prolapse was present.
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PMID:The heart in muscular dystrophy: an electrocardiographic and ultrasound study of 20 patients. 179 Jan 64

Mitral valve prolapse (MVP), the most frequently encountered valvular condition in the population, has been reported in an increasing variety of neurologic, muscular, and psychiatric disorders during the last twelve years. Extensive review of reports indicates this has resulted from observations of either (1) inordinate incidence of MVP in well-defined neurologic entities or (2) development of neurologic or ophthalmologic complications attributed to MVP. In the review presented, basis is found for categorizing MVP by its association with (1) well-defined, genetically determined neurologic disorders; (2) disorders characterized by structural abnormalities, many genetically determined, or inflammatory processes of connective tissues; (3) "mechanical" prolapse resulting from disproportion of mitral valve annulus and left ventricular size, which is, at times, reversible; and (4) a generally asymptomatic state that, at times, is associated with ischemic, thrombotic, embolic, and infectious disorders of the brain and eye. The paradox between the large number of persons with MVP in the general population who remain healthy and a subpopulation of patients with complications of MVP (eg, stroke) or other entities has been identified. A second paradox is found between the well-known increased incidence of MVP, especially in young patients with stroke, and the apparent rarity of stroke among patients with both common (eg, migraine) and unusual (eg, myotonic dystrophy) neurologic entities in which an extraordinary high prevalence of MVP is known to exist.
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PMID:Neurologic aspects of mitral valve prolapse. 266 5

We evaluated the frequency of cerebral infarction in 131 patients with Duchenne's muscular dystrophy, myotonic dystrophy, Becker's muscular dystrophy, or Friedreich's ataxia. Electrocardiographic abnormalities were found in 83% of patients with Duchenne's muscular dystrophy, 56% with myotonic dystrophy, 50% with Becker's muscular dystrophy, and 25% with Friedreich's ataxia. Atrial flutter occurred in 2.3% of the patients, and atrial fibrillation in only 0.9%. Evidence of cerebral infarction was found in only 2 patients (1.5%). Both patients had cardiomyopathy and either atrial fibrillation or flutter. Despite frequent cardiac involvement, cerebral infarction is an uncommon occurrence in patients with inherited neuromuscular diseases.
Stroke
PMID:Frequency of cerebral infarction in patients with inherited neuromuscular diseases. 360 8

Cardiac disease is commonly associated with virtually every form of muscular dystrophy and myopathy. A double-blind and open crossover trial on the oral administration of coenzyme Q10 (CoQ10) to 12 patients with progressive muscular dystrophies and neurogenic atrophies was conducted. These diseases included the Duchenne, Becker, and limb-girdle dystrophies, myotonic dystrophy, Charcot-Marie-Tooth disease, and Welander disease. The impaired cardiac function was noninvasively and extensively monitored by impedance cardiography. Solely by significant change or no change in stroke volume and cardiac output, all 8 patients on blind CoQ10 and all 4 on blind placebo were correctly assigned (P less than 0.003). After the limited 3-month trial, improved physical well-being was observed for 4/8 treated patients and for 0/4 placebo patients; of the latter, 3/4 improved on CoQ10; 2/8 patients resigned before crossover; 5/6 on CoQ10 in crossover maintained improved cardiac function; 1/6 crossed over from CoQ10 to placebo relapsed. The rationale of this trial was based on known mitochondrial myopathies, which involve respiratory enzymes, the known presence of CoQ10 in respiration, and prior clinical data on CoQ10 and dystrophy. These results indicate that the impaired myocardial function of such patients with muscular disease may have some association with impaired function of skeletal muscle, both of which may be improved by CoQ10 therapy. The cardiac improvement was definitely positive. The improvement in well-being was subjective, but probably real. Likely, CoQ10 does not alter genetic defects but can benefit the sequelae of mitochondrial impairment from such defects. CoQ10 is the only known substance that offers a safe and improved quality of life for such patients having muscle disease, and it is based on intrinsic bioenergetics.
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PMID:Biochemical rationale and the cardiac response of patients with muscle disease to therapy with coenzyme Q10. 385 73

Proximal myotonic myopathy (PROMM) is an autosomal dominantly inherited multisystemic disorder characterized by myotonia, proximal muscle weakness, and cataracts. This disorder is not linked to the gene locus of myotonic dystrophy (DM). We describe three new families with PROMM. In all patients, CTG repeats of the DM gene in DNA from blood leukocytes were normal. MRI of the brain revealed a consistent pattern of marked white matter hyperintensity on T2-weighted images in four patients; two additional patients had similar but mild to moderate MRI abnormalities. The morphology of these abnormalities is unknown. Clinical symptoms of brain disease were not consistent and included mental changes with hypersomnia, parkinsonian features, stroke-like episodes, and seizures. The causative relationship of these clinical features with the MRI white matter abnormalities remains to be established. Our observations suggest that PROMM may involve the brain.
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PMID:Proximal myotonic myopathy with MRI white matter abnormalities of the brain. 900 90

We evaluated cranial CT findings of 160 patients with various type of progressive muscular dystrophy (PMD). Significant brain atrophy was observed in 21 out of 63 cases of Duchenne muscular dystrophy (DMD), 7 out of 15 Becker muscular dystrophy (BMD), no case of 2 female dystrophinopathy (F-dyst), 11 out of 21 limb-girdle muscular dystrophy (LG), all cases of 10 Fukuyama type congenital muscular dystrophy (FCMD), 2 out of 5 fascioscapulohumeral muscular dystrophy (FSH), and 32 out of 44 myotonic dystrophy (MyD). Genetical degenerative process and vascular insufficiency seemed to cause brain atrophy in these disease. The intracranial calcification was observed in one DMD, one LG and seven MyD. One LG patient showed focal atrophy in left temporal lobe, and one MyD demonstrated right temporal meningioma. The trace of cerebral vascular accident was disclosed in eleven patients with PMD (1 DMD, 2 BMD, 1 F-dyst, 2 LG, 5 MyD). In these cases, 2 patients had dilated cardiomyopathy, 6 patients with decreased left ventricular ejection fraction, 3 with atrial fibrillation, 1 with cardiac arrest followed by pacemaker instillation, 1 with Adam-Stokes attack, and 3 with 1 degree AV-block. Diffuse low density in the white matter was seen in a patient with F-dyst, a FCMD patient, and 8 MyD patients. Cardiac emobolism, severe arrythmia, cardiogenic shock and hemodynamic disorder were seemed to cause cerebral vascular disease in PMD.
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PMID:[Evaluation of cranial CT findings of patients with muscular dystrophy: with a reference to cerebral vascular disease and cardiac complications]. 1045 50

The study aims to develop and assess metric proprieties of the Portuguese version of the Hospital Anxiety and Depression Scale. A sequential sample includes 1322 participants diagnosed with cancer, stroke, epilepsy, coronary heart disease, diabetes, myotonic dystrophy, obstructive sleep apnoea, depression and a non-disease group, which completed the HADS. The first step includes translation, retroversion, inspection for lexical equivalence and content validity, and cognitive debriefing. Then we reproduce oblique exploratory factor analysis and use confirmatory factor analysis. We explore the sensibility of the questionnaire. The validation process of the Portuguese HADS version shows metric properties similar to those in international studies, suggesting that it measures the same constructs, in the same way, as the original HADS form.
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PMID:Validation study of a Portuguese version of the Hospital Anxiety and Depression Scale. 1736 2

Myotonic dystrophy is a well-known hazard of anesthesia for various kinds of surgery. A 47-year-old male who had an increased CTG repeat of approximately 700 copies in the 3'-untranslated region of the myotonic dystrophy protein kinase gene underwent closure of an atrial septal defect under normothermic beating heart. A strong correlation between reduced left ventricular ejection fraction and stroke volume, and the number of CTG repeats, has been reported. Because this correlation is not completely understood, even if the preoperative cardiac function is normal, it is important to check the number of CTG repeats and the patients who have a large number of them should be carefully treated.
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PMID:Surgical repair for atrial septal defect associated with myotonic dystrophy. 1765 3


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