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

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.
 ...
PMID:Kwashiorkor-like zinc deficiency syndrome in anorexia nervosa. 9 54

Daily, for 14 days, rabbits of one group were injected with corticotropin, i.e. ACTH-zinc-phosphate (10 units/kg), whereas rabbits of another group were given (in addition) sodium ribonucleate (40 mg/kg) through a tube into the stomach. Formation of lysyl-tRNA, leucyl-tRNA, and alanyl-tRNA in the liver and the skeletal muscles proved to be significantly greater in the animals which received ACTH together with sodium ribonucleate, as compared to that in the animals given the hormone alone. Hyperglycemia, hepatomegaly, and emaciation were less pronounced in the animals given both the preparations.
 ...
PMID:[Effect of enteral administration of sodium ribonucleate on the synthesis of amino acyl t RNA in the liver and skeletal muscles of rabbits in experimental hypercorticism]. 19 79

The administration of 1.5 g/kg of di-(2-ethylhexyl)phthalate (DEHP), 50 or 10 micrograms/kg of luteinizing hormone-releasing hormone (LRH) to male Crj:Wistar rats for 1 week did not affect their testicular and prostatic gland weights. Co-administration of DEHP and LRH, however, induced testicular atrophy coincident with decreases in zinc and sulfhydryl concentration in the testis and reduction of the activity of testicular specific lactate dehydrogenase isozyme. These changes were similar to the results of high-dose administration of DEHP alone. Liver enlargement and hypolipidemia (reduction of serum cholesterol, triglycerides and phospholipids) occurred sometimes after co-administration of DEHP and LRH.
 ...
PMID:Enhancing effects of luteinizing hormone-releasing hormone on testicular damage induced by di-(2-ethylhexyl)phthalate in rats. 274 71

The effects of various compounds known to be hepatic tumor promoters and toxins in the male B6C3F1 mouse liver, including di(2-ethylhexyl)phthalate (DEHP), acetaminophen (ACT), barbital (BB), and phenobarbital (PB) on hepatic metallothionein (MT) concentrations were assessed after chronic exposure. From 6 weeks of age, male mice were maintained on diets containing DEHP at 12,000 or 6000 ppm, ACT at 10,000 or 5000 ppm, BB at 1,000 ppm, or drinking water with PB at 500 ppm for up to 24 weeks. MT was measured in hepatic cytosol at 0, 2, 8, and 24 weeks of exposure. DEHP proved a very effective inducer, producing elevations of MT as high as 11-fold. The increases in hepatic MT with DEHP were both dose- and time-related. ACT was likewise effective in producing hepatic MT elevations (maximum 6.7-fold) in a dose- and time-related fashion. BB and PB, however, had no effect on hepatic MT levels at any time point. While DEHP, BB, and PB treatments produced hepatomegaly, histopathological analysis at 24 weeks revealed that in both DEHP- and ACT-treated livers hepatocellular proliferation was prominent while livers exposed to BB or PB showed predominantly hepatocellular hypertrophy. Gel-filtration of DEHP-treated liver cytosol revealed that zinc was associated with the MT peak. This peak also bound cadmium in vitro and could be extracted by heat treatment and selective acetone precipitation, both typical characteristics of MT. Further confirmation of the presence of MT after DEHP treatment was obtained by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (10 to 20% acrylamide). Results indicate that some, but not all, tumor promoters can induce target organ MT and that such an induction appears associated with those promoters inducing persistent cellular hyperplasia but not those inducing cellular hypertrophy.
 ...
PMID:Induction of hepatic metallothionein in male B6C3F1 mice exposed to hepatic tumor promoters: effects of phenobarbital, acetaminophen, sodium barbital, and di(2-ethylhexyl) phthalate. 278 55

Groups of 48 adult male F344 rats were maintained on synthetic diets containing 20 ppm (normal), 2 ppm (low), or 200 ppm (high) zinc. After 1 week of acclimation to the various diets, groups of 12 rats from each dietary regimen were gavaged for 13 consecutive days with 0.0 (vehicle), 0.33, 1.0, or 3.0 g/kg di(2-ethylhexyl)phthalate (DEHP). These were selected as relatively nontoxic, mildly toxic, and moderately toxic doses for producing testicular injury in adult male rats. At termination on the 14th day, body weight gain was reduced by 3.0 g/kg DEHP dose in the normal and low-zinc diet groups but not in the high-zinc diet group. The low-zinc diet alone reduced body weight gain, independent of DEHP treatment. DEHP had no perceptible effects on the weights of testis, seminal vesicle, prostate, or epididymis from rats maintained on normal- or high-zinc diets, but reduced the weights of all of these organs from animals on the low-zinc diet in a dose-dependent manner. Lactate dehydrogenase activity, total and free sulfhydryl contents, and zinc concentrations in testes were also reduced, and testicular degeneration was induced by DEHP in the low-zinc diet groups. In contrast, dose-dependent liver enlargement and hypolipidemia (reduction of serum cholesterol and triglyceride concentrations) were produced by equivalent doses of DEHP in all of the three zinc groups. The selectively enhanced susceptibility of adult male F344 rats on a zinc deficient diet to the gonadotoxic effects of DEHP supports the hypothesis that testicular zinc depletion is causally related to the ensuing testicular and accessory sex organ atrophies. Other biological effects of DEHP (e.g., hypolipidemia, hepatomegaly) appear to occur independent of zinc homeostasis.
 ...
PMID:Influence of dietary zinc on di(2-ethylhexyl)phthalate-induced testicular atrophy and zinc depletion in adult rats. 371 59

Thirteen cats with diabetes mellitus were evaluated. Clinical signs included polydipsia, polyuria, polyphagia, lethargy, and weight loss. Results of physical examination included obesity, hepatomegaly, mild seborrhea sicca, muscle wasting, and dehydration. One cat walked plantigrade and was suspected of having a diabetic neuropathy. Persistent hyperglycemia, glucosuria, high liver enzyme activities, hypercholesterolemia, hyperproteinemia, and low electrolyte concentrations were the common laboratory findings. In 3 cats diabetes mellitus developed after megestrol acetate therapy; 2 of these cats required only temporary insulin treatment. In a 3rd cat, which had no history of receiving diabetogenic drug therapy, remission of diabetes mellitus also was observed. Serum insulin and plasma glucose concentrations were determined in 6 cats after administration of an intermediate-acting insulin (isophane insulin) and in 3 cats after administration of a long-acting insulin (protamine zinc insulin). The insulin concentration peaked 2 to 6 hours after the injection of intermediate-acting insulin and 6 to 12 hours after the injection of long-acting insulin. The lowest glucose concentration was recorded 4 to 8 hours after injection of intermediate-acting insulin, and 6 to 12 hours after injection of long-acting insulin. It was concluded that, although insulin therapy must be adjusted to the individual, the diabetic cat usually requires twice-daily administration of isophane insulin; however, the protamine zinc insulin can be given once daily for satisfactory control.
 ...
PMID:Insulin therapy in cats with diabetes mellitus. 629 64

The effect of histidine-supplemented stock diets on plasma cholesterol and on the amelioration of the hypercholesterolemia by simultaneous copper supplementation was examined in rats. Weanling male Sprague-Dawley rats, five groups of 10 animals each, were fed ground stock diets unsupplemented or supplemented with 8% L-histidine, 8% L-histidine plus 222.8 micrograms Zn/g and 8% L-histidine plus 56.6 micrograms Cu/g. On day 46 plasma and liver cholesterol, copper and zinc concentrations were determined by colorimetry and atomic absorption spectrophotometry. Histidine supplementation produced hepatomegaly, depressed growth, a 131.8% (P less than 0.001) increase in plasma cholesterol and significant reductions in plasma copper and zinc and liver copper concentrations. The simultaneous feeding of histidine and zinc-supplemented stock diet failed to alter the hypercholesterolemia despite elevation in plasma zinc to values in excess of control animals. The simultaneous feeding of histidine and copper-supplemented stock diets abolished the hypercholesterolemia, reduced the hepatomegaly observed with histidine alone and elevated tissue copper concentrations to values in excess of control animals. Tissue copper and cholesterol concentrations showed significant negative correlations. No correlations between zinc and cholesterol were observed. The results suggest that histidine-induced hypercholesterolemia is due to changes in copper status, and is abolished by simultaneous copper supplementation.
 ...
PMID:Dietary L-histidine-induced hypercholesterolemia and hypocupremia in the rat. 721 37

Veal calf producers in Indiana have reported condemnation of carcasses due to icterus as well as condemnation of livers because of yellow discoloration, hepatomegaly and fibrosis. This study assessed the degree of hepatic injury in affected veal calves and correlated it with copper, iron and zinc concentrations in the liver and kidney. Tissues examined histopathologically were from slaughtered and necropsied veal calves. Hepatic lesions were divided into histopathologic categories of severity (minimal, moderate, marked or severe) based upon the degree of fibrosis, biliary epithelial hyperplasia, and inflammation. Hepatic copper levels decreased as the severity of lesions increased. The clinical observations and morphologic changes suggested initial hepatic damage before 9 w-of-age. The affected calves either died of acute copper toxicosis or survived to develop hepatomegaly, hepatic discoloration and/or fibrosis at the time of slaughter.
 ...
PMID:Comparison of hepatic lesions in veal calves with concentrations of copper, iron and zinc in liver and kidney. 1034 10

Mulibrey nanism (for muscle-liver-brain-eye nanism, MUL; MIM 253250) is an autosomal recessive disorder that involves several tissues of mesodermal origin, implying a defect in a highly pleiotropic gene. Characteristic features include severe growth failure of prenatal onset and constrictive pericardium with consequent hepatomegaly. In addition, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, typical dysmorphic features and hypoplasia of various endocrine glands causing hormonal deficiency are common. About 4% of MUL patients develop Wilms' tumour. MUL is enriched in the Finnish population, but is rare elsewhere. We previously assigned MUL to chromosome 17q22-q23 and constructed a physical contig over the critical MUL region. The region has now been further refined by haplotype analysis and new positional candidate genes have been localized. We identified a gene with four independent MUL-associated mutations that all cause a frameshift and predict a truncated protein. MUL is ubiquitously expressed and encodes a new member of the RING-B-box-Coiled-coil (RBCC) family of zinc-finger proteins, whose members are involved in diverse cellular functions such as developmental patterning and oncogenesis.
 ...
PMID:Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism. 1088 77

Mutations in the Wilson disease gene ATP7B, a P-type ATPase, are responsible for copper accumulation in the liver and other organs leading to Wilson disease (WD, OMIM 277900). Clinical manifestations of Wilson disease (WD) include chronic liver disease, acute hepatic failure or neuropsychiatric diseases. Since potent medical treatments are available to prevent disabling residual symptoms, early diagnosis is crucial. To demonstrate the clinical course and genetic findings, a male patient with a novel mutation in the ATP7B gene, a 10 base pair insertion in exon 6 (1927ins 10), and a second missense mutation in exon 13 (P992L) is reported. The patient presented with signs of chronic liver disease at the age of 10 years. Clinical findings included hepatomegaly, elevated liver enzymes and coagulopathy. A combination treatment with the copper chelating agent D-penicillamine and zinc acetate was started leading to normalization of liver function and no appearance of neurological signs or Kayser-Fleischer ring after 7 years follow-up. Truncating mutations of the ATP7B gene (insertions, deletions, nonsense mutations) leading to gross loss of C-terminal parts of the protein, thereby probably completely destroying the protein function, may correlate with a hepatic phenotype and early onset as seen in the patient presented.
 ...
PMID:Disturbed copper transport in humans. Part 2: mutations of the ATP7B gene lead to Wilson disease (WD). 1193 61


1 2 Next >>