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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Skeletal or cardiac muscle fibers can be separated by brief (3--5 second) dissociation of formalin-fixed pieces with a Willems Polytron (Brinkmann Instrument Co.). Such separated fibers are useful for demonstration of abnormal accumulations of lipids, carbohydrates, proteins and minerals in metabolic diseases. Staining techniques for demonstration of various stored materials include: 1) toluidine blue at pH 2.8 for acid mucopolysaccharide in skeletal muscle fibers in Pompe's glycogenesis 2, 2) one-step trichrome stain for nemaline myopathy and for abnormal mitochondria in X-linked infantile cardiomyopathy, 3) periodic acid-methenamine silver stain for glycolipid-containing lysosomes in I-cell disease (mucolipidosis 2), 4) Sudan black B stain for lipid in skeletal muscle fibers in Reye's syndrome, infantile lactic acidosis, Leigh's infantile subacute necrotizing encephalopathy and Jansky-Bielschowsky late infantile ceroid lipofuscinosis, 5) iron stain for iron in cardiac and skeletal muscle fibers in thalassemia with advanced hemosiderosis, and 6) autofluorescence for "ceroid" in skeletal muscle fibers in Jansky-Bielschowsky disease.
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PMID:Histochemical methods for dissociated muscle fibers. 9 Apr 4

In patients with thalassemia treated by long-term chronic blood transfusions who survive beyond the first ten or twenty years of life but received no or inadequate chelating therapy during the first years, evaluation of iron overload and its consequences on tissues may prove an arduous task. MRI is a non-invasive means of measuring the amount of iron in the liver and the consequences of the iron overload on the heart and other tissues. For this purpose, MRI is more satisfactory than CT scan studies. In this investigation, 20 patients with thalassemia major underwent MRI. Multiple spin echos were used to allow determination of the transversal relaxation constant T2. This constant, expressed in ms, is related to the concentration of iron in the liver as in the following expression: (C) = 5 410/T2-110. MRI studies disclosed a discrepancy between the severity of hepatic hemosiderosis and development of decompensated iron overload cardiomyopathy. In a unique case, in which a heart transplant and two MRI studies were performed, the severe iron overload that failed to respond to several years of subcutaneous chelating therapy was more than halved by intensive intravenous chelation through a central catheter. MRI studies of the heart provide valuable morphologic and functional data. Although the amount of iron in the myocardium cannot as yet be quantified, modifications of the transversal relaxation time provide information on the severity of the overload and the presence of other myocardial alterations.
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PMID:[The value of nuclear magnetic resonance in the study of iron overload in thalassemia patients]. 203 85

Today cardiomyopathy is the main cause of death of patients with thalassemia disease since the second decade of their lives. Echocardiography is a useful means to put into evidence cardiac alterations before the appearance of the clinical marks of cardiac failure.
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PMID:[The echocardiographic evaluation of multiply transfused thalassemia patients over the age of 10]. 207 1

Adequate iron chelation in thalassaemia has resulted in a striking improvement in survival, with a reduction of cardiac mortality at age 15 years from 14-3%, and a predicted survival at age 36 years of 85%. Long term desferrioxamine (DF) therapy in thalassaemic children should be started between 2-4 years of age. In addition to daily 8-12 h subcutaneous infusions, intermittent high dose (9-16 g) i.v. supplementation over 24-48 h may be given on the occasion of blood transfusions. In established myocardiopathy continuous i.v. DF infusion at 100-125 mg/kg/d may result in improved myocardial function. In addition, there is considerable current interest in the use of DF in conditions unrelated to iron overload by preventing the formation of free-radicals in inflammatory reactions, or by S-phase inhibition of cell proliferation. Although at present highly experimental, this novel approach may have important implications for the management of patients with inflammatory conditions and perhaps in the control of protozoal infections. Over the last decade several hundred candidate compounds have been studied in cell cultures and in animal models and a number of orally effective iron chelators have been identified, all of which are superior to DF in their in vivo iron chelating effect. Although we do not yet have a new drug which is immediately available for replacing DF in clinical practice, significant progress has already been made, and some of the most promising candidate drugs are currently undergoing extensive toxicity tests in anticipation of their development for large-scale clinical use.
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PMID:Iron chelation. 218 44

Possible causes of specific cardiac muscle disease, diagnosis, follow-up and the therapeutic management are discussed on the basis of a series of cases. 8 out of 30 patients who showed the clinical picture of dilative cardiomyopathy (DCM) were found to have a specific cardiac muscle disease. 4 patients had DCM following adriamycin therapy. Fibromuscular dysplasia with renal hypertension, thalassaemia major with secondary haemosiderosis, long-overlooked and untreated athyroidism each caused one case of dilative specific cardiac muscle disease. Once DCM was preceded by the Kawasaki syndrome for over 2 years. Amongst 47 patients with hypertrophic cardiomyopathy there were two children who had undergone ACTH treatment, 6 children born of diabetic mothers, 4 cases of Pompe's disease, and one patient with hypothyroidism resulting in reversible hypertrophy of the cardiac muscle. Different neurodegenerative diseases were associated with cardiac muscle disease in 4 cases, partly dictating the clinical course. Extremely rare was the development over 6 years of cardiac hypertrophy following a burns injury.
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PMID:[Secondary diseases of the heart muscle and their differential diagnosis in childhood]. 253 13

We describe a patient affected by intermedia beta-thalassemia who presented a severe heart failure when she was 27 years old. The heart failure and radiologic, electrocardiographic and echocardiographic manifestations of cardiomyopathy disappeared with desferrioxamine therapy.
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PMID:[Severe cardiomyopathy in a woman with intermediate beta-thalassemia. Regression of cardiac failure with desferrioxamine]. 408 35

The effect of iron overload on left ventricular (LV) performance was studied in 60 patients with beta-thalassemia. Patients were divided into 3 groups according to the number of blood units (BU) received. Clinically, 14 patients were in advanced classes (III and IV) of congestive heart failure (CHF). LV performance was extensively studied by M-mode echocardiography, and the results were correlated to BU transfused and CHF presence. E point-septal separation, LV systolic and diastolic dimensions had greater values in CHF patients (p less than 0.0001). The percentage shortening of the internal LV diameter and the peak velocity of circumferential fiber shortening were reduced in CHF patients (p less than 0.01 and 0.0001), while the percentage thickening of the LV posterior wall (PW) and interventricular septum (IVS), were independent of CHF presence. LVPW relaxation and indices of the overall diastolic LV function had similar values in all groups. The relation of all systolic and diastolic indices to BU was low (r less than 0,6) and in most cases indifferent (p:NS). A special finding was observed in 4 CHF patients, where segmental IVS dyskinesia contrasted with a satisfactory LVPW motion. The above results indicate that CHF in beta-thalassemia is not the consequence of volume and iron overload, but that these factors are predisposing towards the development of a specific type of cardiomyopathy.
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PMID:Iron overload and left ventricular performance in beta thalassemia. 660 5

The major clinical problem in patients with thalassemia is iron overloading usually resulting from increased exogenous iron absorption from transfusions. Diseases of various organ systems result, including cirrhosis, cardiomyopathy, diabetes, and other less well appreciated endocrinopathies. Since 1976, we have routinely studied these patients with abdominal computed tomography (CT) and also have scanned other areas of clinical interest. It is the purpose of this report to examine the findings in 35 patients with severe beta-thalassemia and associated hemochromatosis in whom we have tabulated the pertinent CT, clinical and laboratory data.
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PMID:Computed tomographic analysis of beta-thalassemic syndromes with hemochromatosis: pathologic findings with clinical and laboratory correlations. 736 13

Haemochromatotic cardiomyopathy is the main cause of morbidity and mortality in patients with beta thalassaemia major. Once congestive heart failure develops most patients die in a few months. Congestive heart failure was reversed and echocardiographic findings were restored to normal in a 24 year old woman with beta thalassaemia who resumed treatment with chelation therapy (desferrioxamine).
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PMID:Reversal of haemochromatotic cardiomyopathy in beta thalassaemia by chelation therapy. 778 68

We report a case of acute cardiac tamponade without concurrent myocardial disease occurring in a thalassemia patient early after bone marrow transplantation. The pericardial effusion was preceded by an episode of junctional tachycardia. Repeated evaluation by echocardiography was done shortly after the patient developed the arrhythmia and permitted a detailed, timed observation of the event and description of the symptoms.
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PMID:Cardiac tamponade in thalassemia. 792 Mar 22


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