Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This report concerns a 3-month-old girl with rapidly progressive psychomotor retardation, hepatomegaly, vacuolated lymphocytes, minimal bone dysplasia and normal excretion of acid mucopolysaccharides. A deficiency of acid beta-galactosidase was demonstrated in isolated leucocytes and in a liver biopsy. The diagnosis of generalized gangliosidosis due to deficiency of beta-galactosidase was also based on the absence of the enzyme activity from cultured fibroblasts. The diagnosis was confirmed on autopsy at 16 months by typical histology, electron microscopy and biochemistry of the organs. beta-galactosidase deficiency has been demonstrated in various clinical conditions ranging from generalized gangliosidosis with severe mental retardation to clinical pictures resembling Morquio's disease and normal intelligence. The heterogeneity of the clinical manifestations in beta-galactosidase deficiency could be explained by different residual activities of a structurally mutated enzyme towards its various substrates.
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PMID:Generalized gangliosidosis: acid beta-galactosidase deficiency with early onset, rapid mental deterioration and minimal bone dysplasia. 6 26

A group of 18 chronic alcoholic patients who had sclerosing hyaline necrosis in noncirrhotic livers was compared with a group of 12 similar individuals with acute alcoholic hepatitis, but no centrilobular fibrosis. In cases with sclerosing hyaline necrosis, the most characteristic features were portal hypertension with very large, tender livers and unusually high glutamic-oxalacetic transaminase values; these were associated with centrilobular fibrosis and abundant alcoholic hyalin. Three of these patients died within two years and in two of these, early cirrhosis was found at necropsy. In the cases of acute alcoholic hepatitis, hepatomegaly was the most conspicuous finding, and only a single patient died; death here was unrelated to hepatic disease, the liver being unremarkable at necropsy. Patients who had sclerosing hyaline necrosis tended to remain ill for significantly longer periods. These observations, in conjunction with evidence gathered from the literature, seem to suggest that sclerosing hyaline necrosis is an obligatory step in the natural evolution of alcoholic hepatic disease, especially in cases that evolve into cirrhosis.
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PMID:Sclerosing hyaline necrosis in noncirrhotic chronic alcoholic hepatitis. 6 9

Certain characteristics of 328 Mozambican male Shangaans with primary hepatocellular cancer (PHC) have been compared with those of 163 Shangaan men with hepatomegaly from causes other than PHC and with those of 122 Black Southern African men with the same tumour but who belonged to tribes other than the Shangaan. Shangaans with PHC were significantly younger than non-Shangaans with the tumour (mean age 33,4 cf. 40,0 years; Pless than 0,001). They also had a significantly higher positivity rate of alpha-fetoprotein by immunodiffusion (71,4%) than the non-Shangaans (16%), although in other respects the tumours appeared to be similar. Cirrhosis of the non-tumorous part of the liver was present at necropsy in 62% of the Shangaans and in 66% of the non-Shangaans. The hepatitis B (surface) antigen (HBsAg) was detected in the serum of 60% of the Shangaans with PHC compared with only 9% of the controls. The antigen was present in 53,4% of the non-Shangaans with PHC (the difference between this fifure and that in the Shangaans was not significant). HBsAg was detected in the serum of 64% of the Shangaans with PHC and cirrhosis, but also in 74% of those with the tumour without associated cirrhosis. The possible role of the hepatitis B verus in the aetiology of PHC is considered in the light both of these findings and of the possibility that the frequency with which the tumour is associated with cirrhosis may be decreasing in Shangaans. Some of the dietary habits of the Shangaans with PHC were compared with those of the controls. Virtually all the patients with PHC, but also almost all the controls, ate groundnuts in large quantities from an early age, as well as cashew nuts in smaller amounts. Cycad pips, mopani leaves and pods, mopani worms and locusts were not eaten by significantly more of the Shangaans with PHC than the controls. The limitations of this type of dietary analysis are discussed.
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PMID:Some characteristics of Mozambican Shangaans with primary hepatocellular cancer. 6 57

In a retrospective study it was endeavoured to evaluate the effects of splenectomy in chronic lymphocytic leukaemia (CLL) characterised by splenomegaly. The material comprises 42 patients subjected to the operation in the course of the past 20 years. In the majority the spleen weighed more than 1000 g. The main indication for splenectomy was anaemia, while in 9 cases it was thrombocytopenia and in 14 cases hypercatabolism. Splenectomy is followed by a pronounced increase in the venous haemoglobin level and platelet count to higher values which have been recorded for up to 3 years after the procedure. In cases where data were available, there has been weight gain and a falling basal metabolic rate. Splenectomy is effective especially in cases predominated exclusively by splenomegaly, but even in cases with marked extrasplenic manifestations, splenectomy often greatly reduces the need for prednisone and cytostatics. Increasing hepatomegaly and lymphomas were not more common after splenectomy than in a control series, and the incidence of infections was not increased after the operation. For comparison, 37 non-splenectomised patients with splenomegaly were assessed. X-radiation of the spleen seems to be insufficient, since usually it has to be repeated. Splenomegaly does not decrease spontaneously and rarely after treatment with prednisone/cytostatics. The findings indicate that splenectomy of patients with CLL and increasing splenomegaly should be performed more often and presumably also earlier than recommended in the literature.
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PMID:Splenectomy in chronic lymphocytic leukaemia. 6 31

We have carried out a prospective survey of 28 primary liver carcinomas over one year. Hepatocellular carcinoma is the commonest malignancy seen in Rhodesian blacks, which results in a high index of suspicion and accounts for the 96.4% positive diagnosis before death in this study. The age distribution was evenly spread through adult life with no definite peak incidence. Some were young and without evidence of chronic liver disease, but many had the stigmata of established hepatic disease. This contrasts with the common assertion that in areas of high incidence for primary liver cancer those affected are mainly young and lack signs of chronic liver disease. The commonest presenting symptoms were abdominal pain and swelling and weight loss. Hepatomegaly, often tender and nodular, was present in all but one. The incidence of alpha-feto protein, 46.5%, is low compared with other countries where primary liver cancer is common. Hepatitis B antigen was absent in all 28, suggesting that there is no association between the persistence of the antigen and hepatocellular carcinoma in Rhodesia. Liver function tests, although abnormal, were never diagnostic of primary liver cancer. We have confirmed the association of high alcohol consumption and cirrhosis with hepatocellular carcinoma.
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PMID:Hepatocellular carcinoma in the Rhodesian African. 6 99

19 patients with cancer of the liver treated with palliative irradiation are presented. In five of eleven cases jaundice disappeared (4) or diminished (1). In two of the eight patients with pain as the chief symptom pain disappeared, and in one case the enlarged liver diminished considerably. A total of eight of 19 cases responded to radiation treatment.
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PMID:Radiation treatment of liver metastases. 7 49

Serum carcinoembryonic antigen (C.E.A.) levels were measured in 381 undiagnosed patients who presented with clinical problems commonly associated with gastrointestinal malignancy. The results were compared with the final diagnosis after follow-up for up to 5 years to see whether C.E.A.-testing added any useful information. Of 307 patients presenting with upper gastrointestinal symptoms, lower gastrointestinal symptoms, or irom deficiency anaemia, C.E.A. levels greater than 20 ng/ml indicated malignancy in 5 but in 3 of these malignancy was also diagnosed after routine investigation. Of 74 patients presenting with obstructive jaundice, hepatomegaly, or abnormal liver function, malignancy was diagnosed in 38. In 9 of these patients the diagnosis of malignancy could otherwise have been reached only by laparotomy. The serum-C.E.A. thus reached only by laparotomy. The serum-C.E.A. thus seems to be of value in the assessment of liver disease but not in patients with gastric or colonic symptoms or iron-deficiency anaemia.
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PMID:Carcinoembryonic antigen concentrations in undiagnosed patients. 8 41

Overnight metabolic studies in 39 poorly controlled insulin-treated diabetic patients aged 9 to 66 years showed hypoglycaemia (blood-glucose less than 2 mmol/1) in 22 patients; it lasted 3 h or more in 17. Hypoglycaemic symptoms were very mild or absent, but 19 patients had other features of overtreatment with insulin. These included lethargy, depression, night sweats, morning headaches, fits (3 patients), glycogen-laden hepatomegaly (3), and acquired tolerance to high doses of insulin (mean 1 u/kg/24 h). The best clinical clue to recurrent nocturnal hypoglycaemia was the intermittent occurrence of symptoms, however "mild" and infrequent these appeared to be. Reduction of insulin by a mean of 25% in these patients (without change of species) did not result in loss of overall control; 1 patient with recurrent ketoacidosis was stablished on 40% of his initial dose. It is difficult, sometimes impossible, to achieve good overnight control with conventional once or twice daily insulin therapy. Since patients readily become tolerant of low blood-glucose levels, reliance on urine tests and symptoms of hypoglycaemia as a guide to dosage easily produces a spiral of overtreatment.
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PMID:Unrecognised nocturnal hypoglycaemia in insulin-treated diabetics. 8 75

This report deals with a 26-year-old white woman exhibiting signs of both Kwashiorkor (marasmus, pallor, hypopigmentation of hair and hepatomegaly) and acrodermatitis enteropathica (eczematous dermatitis predominantly on acral areas). Clinical and laboratory examinations excluded malabsorption syndrome and glucagonoma syndrome and revealed hypoproteinemia and marked zinc deficiency. Psychiatric examination disclosed anorexia nervosa. Substitution therapy led to rapid clearing of the skin lesions.
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PMID:Kwashiorkor-like zinc deficiency syndrome in anorexia nervosa. 9 54

The authors study 25 steatotic or congested livers by means of post-mortem cholangiographies and vinyl moulds of the bile ducts. They show that the bile ducts of these organs present alterations, characterized by stretching, rectification, and lengthening of the intra-hepatic bile ducts, as a consequence of the diffuse hepatomegaly that occurs in the disease. They relate the average number of straight ducts in the intra-hepatic bile tract to the extension of the extension of the disease, obtaining a positive relation. A statistical evaluation of the results was made, allowing objective conclusions.
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PMID:The intra-hepatic bile ducts in hepatic steatosis and in congested livers. 9 27


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