Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sleep-disordered breathing may occur in a wide variety of neuromuscular syndromes, and may present with diverse, often isolated, symptoms or findings such as excessive daytime sleepiness, pulmonary hypertension, congestive heart failure, morning headaches, or hypoxia-induced nocturnal seizures. The authors report two sisters with congenital muscular dystrophy in whom central sleep apnoea resulted in the isolated symptom of nocturnal seizures in one, and morning headaches in the other. Review of the literature reveals that sleep-disordered breathing may be common in neuromuscular disorders, and may often be present when clinical weakness is mild, and insufficient to result in diurnal respiratory dysfunction.
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PMID:Central sleep apnoea in congenital muscular dystrophy. 194 Sep 43

To study the relationship between plasma alpha-atrial natriuretic peptide (alpha-ANP) and cardiac function in patients with Duchenne's progressive muscular dystrophy (DMD), we measured plasma alpha-ANP levels in 51 patients with DMD and evaluated them according to the clinical severity of the disease and the echocardiographic left ventricular function. In many of the patients with DMD, plasma alpha-ANP levels were mildly elevated, but no clear correlation was observed between alpha-ANP levels and wall motion abnormalities of the left ventricle. The alpha-ANP level was moderately or markedly elevated (81 to 120 pg/ml) in 3 of the 16 patients with respiratory failure and extremely high (1208 pg/ml) in the one patient with congestive heart failure. Two patients with respiratory failure and one with congestive heart failure, in whom alpha-ANP levels were elevated, died within 2 months. Elevation of left atrial pressure as a result of left ventricular dysfunction caused by impairment of the myocardium and elevation of right atrial pressure as a result of pulmonary hypertension caused by impairment of the respiratory muscles are considered to be involved in the mechanism of increased plasma alpha-ANP levels in patients with DMD. It can be concluded that a moderate or marked elevation in plasma alpha-ANP levels in patients with terminal DMD is a sign of a poor prognosis and may be a useful index for the management of the disease.
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PMID:Plasma levels of atrial natriuretic peptide in patients with Duchenne's progressive muscular dystrophy. 214 65

A case of progressive muscular dystrophy of the limb girdle type is reported. The patient, a 37-year-old man, showed severe hypoxemia upon blood gas analysis, which had been predicted by pulmonary function tests, together with elevated pulmonary arterial pressure revealed by cardiac catheterization. He showed abnormal symptoms of respiration during the night, and so a sleep study was performed. The results revealed central type apnea not only during REM sleep but also frequently during NREM sleep. Acidosis and hypoxemia induced by sleep apnea caused vasoconstriction of the pulmonary artery and long-term repetition of this had caused pulmonary hypertension.
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PMID:[A case of progressive muscular dystrophy with pulmonary hypertension]. 261 90

Clinical uses of calcium channel blockers are expanding. In addition to the established uses in patients with arrhythmias, angina pectoris or hypertension, newer and to some extent investigational uses indicate widespread application. For instance, their use has been reported in hypertrophic cardiomyopathy and cold cardioplegia, as well as in pulmonary hypertension, antiplatelet therapy, asthma, achalasia and oesophageal spasm, increased intraocular pressure and in cerebral vasospasm. Their use in obstetrical practice has been proposed. Thus, the presentation of a patient who is treated with calcium channel blockers and who requires anaesthesia will become more common. Calcium channel blockers may, under certain circumstances, potentiate haemodynamic and MAC depressive effects of inhalation agents. There is also evidence that the effects of neuromuscular blocking agents may be potentiated. The anaesthetist should be aware that the potential for interactions exists with digoxin, propranolol, quinidine, theophylline or dantrolene. Of interest and some significance are the anaesthetic implications of pathophysiological alterations that can be induced by calcium channel blockers, by affecting lower oesophageal tone, intracranial hypertension, bronchomotor tone (asthma), muscular dystrophy, neuromuscular function, hypoxic pulmonary vasoconstriction, malignant hyperthermia, inhibition of platelet aggregation and hyperkalemia. Despite these significant potential anaesthetic implications and because, at this time, in some instances withdrawal has clearly demonstrated increase in the signs of myocardial ischaemia, it would not seem necessary to recommend preoperative discontinuation of calcium channel blocker medication in patients presenting for anaesthesia. It is, however, appropriate that there is a high index of awareness of potential problems, unless there is some modification in inhalation anaesthetic concentrations and neuromuscular blocker dosage. Monitoring of cardiovascular and neuromuscular functions is essential. Calcium channel blockers would appear to be currently the drugs of choice for angina pectoris, arrhythmias or hypertension in patients with associated chronic obstructive pulmonary disease.
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PMID:Anaesthetic implications of calcium channel blockers. 286 80

Right heart catheterization was performed in 8 patients with progressive muscular dystrophy of the Duchenne type (DMD) at the advanced stage. A mean pulmonary arterial pressure in excess of 20 mmHg was observed in all cases. Five of them showed severe pulmonary hypertension with a mean pressure above 40 mmHg. Since pulmonary hypertension was relieved by correction of hypoxemia, this represented a precapillary pulmonary hypertension caused by constriction of the pulmonary artery. Furthermore, elevation of the mean right atrial pressure above 5 mmHg was observed in 6 of the 8 cases, indicating the possible presence of right ventricular failure. Despite the presence of left ventricular dysfunction as assessed by echocardiogram, no manifestations of left ventricular failure, such as dyspnea and pulmonary rales, were noted in any of the patients. In conclusion, it can be said that even in the terminal stage of DMD, the left ventricular function may, in fact, still remain not markedly involved, and that respiratory failure, as well as right ventricular failure caused by precapillary pulmonary hypertension, will tend to occur frequently and may play a determinant role in prognosis of the advanced DMD patient.
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PMID:Pulmonary hypertension in progressive muscular dystrophy of the Duchenne type. 338 14

It is not surprising that calcium-channel blocking agents, which have numerous effects on various physiologic systems, have been employed for several "unapproved" uses. This manuscript reviews reports that have appeared within the last two years describing unapproved cardiovascular and noncardiovascular uses of the three available calcium-channel blocking agents. The cardiovascular uses discussed include hypertensive emergencies, pulmonary hypertension, congestive heart failure, aortic insufficiency, Raynaud's phenomenon, migraine headaches, antiplatelet effects and cardiac surgery. Areas of noncardiovascular use include muscular dystrophy, achalasia, esophageal spasm, dysmenorrhea, preterm labor, asthma, hyperuricemia, mania and depression and endocrinologic and oncologic conditions. While some of the data appear promising, other reports are conflicting and contradictory. Furthermore, because much of the information comes from poorly controlled trials or anecdotal reports, even the more promising uses must be studied further and compared with conventional therapy.
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PMID:Promising uses of calcium-channel blocking agents. 637 47

Five children, between 2 and 10 years old, 3 boys and 2 girls, two of them siblings, showed mild clinical and morphological congenital muscular dystrophy. Neuromuscular signs and symptoms being present from birth or early infancy, aggravated only insignificantly during the course of the disease. Three patients developed right ventricular hypertrophy after the age of 9 years, of whom 2 died of cardiac failure at the age of 11 years. There was probably no cardiomyopathy; pulmonary hypertension of unclear range or slightly elevated. The EMG showed abnormal but non-specific features. A myopathic fiber diameter spectrum, intrafascicular fat cells and mild endomysial fibrosis as well as insufficient fiber typing and type I predominance were prominent in histopathological findings. Ultrastructurally, abnormal myofibers were present in each biopsy although the fine structural pathology was non-specific. The families of the patients came from a genetic isolate in the North-Eastern region of the Federal Republic of Germany. The first 4 patients were genetically related to each other by several links among their families dated back over the last 3 centuries. The fifth patient came from the same area, but unequivocal familial linkage could not be established. An autosomal recessive mode of inheritance is suggested for this congenital muscular dystrophy.
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PMID:A form of congenital muscular dystrophy. 722 95

Progressive muscular dystrophy causes both skeletal and significant cardiological changes. Electrocardiographic and echocardiographic examinations were provided in 30 patients with muscular dystrophy (17 of them with progressive muscular dystrophy Duchenne type, 13 with skeletal muscular dystrophy). In 50% cases were found left ventricle filling disorder, in two cases echocardiographic signs of pulmonary hypertension. ECG showed in one third of cases incomplete right bundle branch block, supraventricular tachycardia was also frequently found.
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PMID:[Cardiac problems in patients with progressive muscular dystrophy]. 1522 33

Caveolae are vesicular organelles (50-100-nm in diameter) that are particularly abundant in cells of the cardiovascular system, including endothelial cells, smooth muscle cells, macrophages, cardiac myocytes and fibroblasts. In these cell types, caveolae function both in protein trafficking and signal transduction, as well as in cholesterol homeostasis. Caveolins are the structural proteins that are both necessary and sufficient for the formation of caveolae membrane domains. Caveolins 1 and 2 are co-expressed in most cell types, while the expression of caveolin-3 is muscle-specific. Thus, endothelial cells and fibroblasts are rich in caveolins 1 and 2, while cardiac myocytes and skeletal muscle fibers express caveolin-3. In contrast, smooth muscle cells express all three caveolins (Cav-1, -2, and -3). Mechanistically, caveolins interact with a variety of downstream signaling molecules, including Src-family tyrosine kinases, p42/44 mitogen activated protein (MAP) kinase, and endothelial nitric oxide synthase (eNOS), and hold these signal transducers in the inactive conformation until activation by an appropriate stimulus. In many ways, caveolins serve both to compartmentalize and regulate signaling. Recent studies using caveolin-deficient mouse models dramatically show that caveolae and caveolins play a prominent role in various human patho-biological conditions, especially those related to the cardiovascular system. These disease phenotypes include: atherosclerosis, cardiac hypertrophy, cardiomyopathy, pulmonary hypertension, and neointimal hyperplasia (smooth muscle cell proliferation). In addition, caveolins play a significant role in other disease phenotypes, such as cancer, diabetes, bladder dysfunction, and muscular dystrophy, as we discuss in this review. Thus, caveolin-deficient mice will serve as important new animal models to dissect the intricate role of caveolae and caveolins in the pathogenesis of human diseases.
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PMID:The Caveolin genes: from cell biology to medicine. 1576 30

In 2001, the Stem Cell Network was the first of its kind, a bold initiative to forge and nurture pan-Canadian collaborations involving researchers, engineers, clinicians and private and public sector partners. Canada's broad and deep pool of stem cell talent proved to be a fertile ground for such an initiative, giving rise to a strong, thriving network that, 7 years later, can list innovative cell expansion and screening technologies, early-phase clinical trials for stroke, pulmonary hypertension, muscular dystrophy and cornea replacement, and leading discourse on ethical, legal and social issues among its accomplishments. As it moves into its second and final phase of funding, the Stem Cell Network continues to push boundaries and has set its sights on overcoming the obstacles that impede the transfer of research findings to clinical applications, commercial products and public policy.
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PMID:Catalyzing stem cell research. 1872 99


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