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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

To investigate the development of diabetes mellitus in patients with thalassemia major, plasma glucose and immunoreactive insulin (IRI) levels following oral glucose and intravenous tolbutamide and glucose disappearance rates following intravenous insulin were measured in 10 patients before and during five years on a high transfusion program (HTP). Plasma immunoreactive glucagon (IRG) levels following oral glucose, intravenous insulin, and arginine were measured during the sixth year. Serial percutaneous liver biopsies were performed on seven patients. The oral glucose tolerance tests (OGAT) and mean peak IRI levels were normal in nine of 10 patients before HTP. After HTP was begun a progressive deterioration of OGTT occurred despite normal IRI levels. Following tolbutamide, the mean per cent fall in plasma glucose in the patients before HTP was significantly less than in controls (p less than 0.01) and similar to that of controls during five years of HTP in spite of higher than normal peak IRI levels. Of seven survivors after six years of HTP, three had normal OGTT and four had chemical diabetes; mean peak IRI levels were normal, but fasting IRG levels were significantly higher than in controls (p less than 0.05). In all seven patients, plasma IRG failed to increase following insulin-induced hypoglycemia and was significantly higher than in controls after arginine (p less than 0.01); after oral glucose, plasma IRG fell significantly below that of fasting only in the patients with chemical diabetes (p less than 0.03). Following intravenous insulin, the mean per cent fall in glucose before and during HTP was significantly less than in controls (p less than 0.01). Hemosiderosis and cirrhosis were present in all biopsied patients. Four patients died; two had chemical and two had nonketotic insulin-dependent diabetes. These data suggest that diabetes mellitus occurs frequently in patients with thalassemia on HTP and that insulin resistance and hyperglucagonemia, possibly due to cirrhosis, are important etiologic factors.
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PMID:Carbohydrate metabolism and pancreatic islet-cell function in thalassemia major. 32 76

Endocrine function evaluations in 16 patients with beta-thalassemia indicate that hypogonadotropic hypogonadism, hypoparathyroidism, and reduced adrenocorticotropic hormone reserve occur frequently, whereas reduced growth hormone and thyroid reserve are less common manifestations. Hemosiderosis-induced damage of the endocrine glands seems to be the main cause for endocrine dysfunction in the patients studied.
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PMID:Endocrine abnormalities in thalassemia major. 43 75

A patient of 14 years suffering from secondary haemosiderosis and thalassaemia major was treated with i.v. desferrioxamine in doses up to 3 g/d. Urine iron loss ranged from 46-158 mg/d. Despite improvement in cardiac and hepatic status the patient developed acute renal insufficiency of the pre renal type. The possible role of desferrioxamine in this complication is discussed. Desferrioxamine given s.c. or i.v. effects a marked urinary iron loss but its use may not be without significant complications.
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PMID:Acute renal insufficiency occurring during intravenous desferrioxamine therapy. 45 59

In order to evaluate the interrelations of splenectomy, iron overload and cirrhosis, histologic specimens of liver and spleen were examined and correlated in 12 children with beta-thalassemia major. All patients had received blood transfusions since infancy. Correlations seemed to exist between splenic hemosiderosis and splenic weight, and between the latter and the age at time of splenectomy. All liver samples showed varying hemosiderosis, not correlated with the number of transfusions or the children's age. Irregular liver cirrhosis existed in three children, 7, 8, and 14 years after splenectomy. No cirrhosis existed in any of the children where the spleen was in situ. Splenectomy in children with thalassemia may carry the long-term risk of liver cirrhosis.
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PMID:Splenectomy, iron overload and liver cirrhosis in beta-thalassemia major. 82 69

The eyes were examined in 118 inpatients with various thalassemia forms. The examinations included viso- and perimetry, biomicro- and ophthalmoscopy, fluorescent angiography of the fundus oculi and retinophotography. Patients with thalassemia were found to develop a variety of changes in the eye, whose manifestations depended on the length and severity of the underlying disease and on the treatment administered. Changes in the conjunctival and retinal vessels develop as early as in the initial stages of thalassemia, presenting as twisting, dilatation, and irregular calibre of the veins, dilatation of the arteries and reduction of their light reflex. Later dystrophic and atrophic changes develop: obliteration of the iris pattern and thinning of its peripheral zone, deterioration of blood circulation in the central retinal zone. Multiple blood transfusions and hemosiderosis lead to the development of hyperpigmentation of the limb, sclera, fundus oculi and appearance of retinal angioid strips. These findings should be taken into consideration when assessing the ocular status of thalassemia patients and defining the indications for treatment for angiopathic and dystrophic processes in the eye.
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PMID:[Ocular function in beta-thalassemia patients]. 129 94

The authors report on a 24-year old patient with Blackfan-Diamond syndrome who developed a Hodgkin's disease. This patient became transfusion-dependent at the age of 10, after an initial period of corticosensitivity, and after failure of androgens. He developed hemochromatosis despite from parenteral chelation therapy. He died of infectious complications 4 months after the diagnosis of Hodgkin's lymphoma. A review of the literature shows an increased incidence of malignancies in Blackfan-Diamond syndrome (three cases of leukemia), and in similar disease (thalassemia and sickle cell disease), but not in other patients with hemosiderosis (primitive hemochromatosis, end-stage renal failure under dialysis). Etiopathogenic hypotheses are discussed.
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PMID:[Blackfan-Diamond disease and malignancy: cause effect relationships?]. 133 66

Ophthalmologic examination and morphologic investigations of the spleen were conducted in 10 patients with beta-thalassemia. Pathologic changes of vascular and dystrophic character were detected in the organ of vision, symptoms of angiopathy, hemosiderosis and spleno-cirrhosis were recorded in the spleen tissue. Clinical changes in the organ of vision were correlated with morphological shifts in the spleen tissue. A conclusion has been made that ophthalmologic examination of thalassemia patients could be useful for evaluation of severity of the main disease and effectiveness of the treatment conducted.
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PMID:[Changes in the organ of vision in beta-thalassemia: clinical and morphologic parallels]. 151 95

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

The data of HLA-haplotyping were used as an allele marker controlling hereditary hemochromatosis in 23 patients with beta-thalassemia. The results obtained have permitted a conclusion that hemosiderosis in patients with beta-thalassemia may be caused by association of beta-thalassemia gene with hereditary hemochromatosis. Early diagnosis of hyperferremia is of great prognostic importance as the adequate treatment timely conducted can prevent the development of irreversible changes in the patients.
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PMID:[Possibility of the development of non-transfusion hemosiderosis in beta-thalassemia, caused by association with HLA-linked hemochromatosis]. 236 83


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