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)

A 5-year-old Black boy presented with massive hepatomegaly and muscle weakness. Liver biopsy revealed the presence of glycogen pools in the cytoplasm and nuclei of hepatocytes. Erythrocyte glycogen levels, identified as limit dextrin, were grossly increased. The galactose tolerance test as well as the two-stage glucagon stimulation test suggested a decrease in activity of both amylo-1,6-glucosidase and glucose-6-phosphatase enzymes. This was confirmed by direct assays performed on liver tissue and erythrocytes. The decrease in glucose-6-phosphatase activity was attributed to a secondary effect of limit dextrin.
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PMID:Glycogen storage disease type III. A case report. 632 Apr 74

Muscle weakness, neuropathy, and transient rises in hepatic enzyme activity have been reported with the use of the antiarrhythmic agent amiodarone. A 68 year old teetotaller with normal liver function was given amiodarone for resistant supraventricular arrhythmias. He presented 19 months later with vomiting, muscle weakness and wasting, sensory neuropathy, and hepatomegaly. Liver biopsy showed fibrosis and the presence of hyaline. The amiodarone was withdrawn. Three months later he developed ascites. Oesophageal varices were found and he later died. The liver showed micronodular cirrhosis. The large volume of distribution and long half life of amiodarone may explain the persistence of toxicity, which may have been aggravated by simultaneously administered doxepin in this case. Amiodarone should be withdrawn if abnormal liver function or neuropathy develops.
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PMID:Neuropathy and fatal hepatitis in a patient receiving amiodarone. 632 31

Of cases of hyperadrenocorticism in small animals 80-85% are the result of adrenocortical hyperplasia. Middle-aged or older Poodles, Dachshunds, Boston Terriers and Boxers are most commonly affected, and cats rarely. Clinical signs include polydipsia, polyuria, alopecia, abdominal distension, lethargy, weakness, hepatomegaly, calcinosis cutis, testicular atrophy and anestrus. Hematologic and biochemical changes may include neutrophilia, lymphopenia, monocytosis, eosinopenia, increased blood levels of alkaline phosphatase, SGPT, cholesterol, Na and glucose, and decreased K and T4 levels. The high-dosage dexamethasone suppression test helps differentiate pituitary-dependent hyperadrenocorticism from that caused by adrenal tumors. The low-dosage dexamethasone suppression test, determination of plasma ACTH levels, and ACTH response test are additional diagnostic aids in the diagnosis of Cushing's disease. Medical treatment involves oral use of mitotane (o,p'-DDD) at 50 mg/kg/day for 7 days and prednisone or prednisolone at 0.05 mg/kg/day. Hypophysectomy has been used with only 5% mortality in cases of pituitary-dependent hyperadrenocorticism. Adrenalectomy is indicated in cases of adrenal neoplasia.
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PMID:Diseases of the adrenal cortex of dogs and cats. 633 May 21

This report describes a third mucopolysaccharidosis in animals: canine mucopolysaccharidosis VII. The affected dog was the offspring of a father-daughter mating. Weakness in the rear legs was evident at 8 weeks of age and became progressively worse. He had a large head, a shortened maxilla, and corneal granularities. Most joints were extremely lax, easily subluxated, with joint capsules that were swollen and fluctuant. The dog was alert and had apparently normal pain perception. At 13 months of age, there was radiographic evidence of extensive skeletal disease including bilateral femoral head luxation, abnormalities in the shape and density of the carpal and tarsal bones, radiolucent lesions of the epiphyseal regions of most long bones, and cervical vertebral dysplasia and platyspondylia. The electrophoretic pattern of precipitated glycosaminoglycans indicated a predominance of chondroitin sulfate. The animal died suddenly from gastric dilatation. There was generalized hepatomegaly, thickening of the atrioventricular heart valves, and generalized polyarthropathy. Vacuolated cytoplasm was observed in hepatocytes, keratocytes, fibroblasts, chondrocytes and cells of the synovial membrane, retinal pigment epithelium, and cardiac valves. Neurons had cytoplasmic vacuoles. Electron microscopy demonstrated membrane-bound cytoplasmic inclusions in polymorphonuclear leukocytes, hepatocytes, synovium, heart valves and spleen. The activities of 12 lysosomal hydrolases were determined in liver from the affected and control dogs: beta-glucuronidase (EC 3.2.1.31), beta-hexosaminidases A and B (EC 3.2.1.30), alpha-hexosaminidase (EC 3.2.1.-), alpha-L-iduronidase (EC 3.2.1.76), alpha-galactosidase A (EC 3.2.1.22), beta-galactosidase (EC 3.2.1.23), arylsulfatases A and B (EC 3.1.6.1), acid alpha-mannosidase (EC 3.2.1.24), acid beta-mannosidase (EC 3.2.1.25), and N-acetyl-D-galactosamine-6-sulfate sulfatase (EC 3.1.6.-).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII. 643 80

Muscle was cultured from a 7-month-old boy affected by generalized weakness, macroglossia, cardiomegaly, hepatomegaly and increasing dyspnea. Muscle biopsy showed a vacuolar myopathy with glycogen accumulation (Pompe's disease). The muscle was cultured to verify whether the abnormality could be expressed in culture during myogenesis. In the living muscle cultures, phase-contrast microscopy revealed that myotubes as young as two weeks were vacuolated and that the vacuolization was higher in the older cultures compared to parallel control cultures. Fluorescent microscopy by acridine orange staining of the cultures showed a marked increase in acridine orange positive material (presumptive lysosomes) throughout the sarcoplasm. Electron microscopic data revealed myofibrillar destruction in the muscle biopsy and vacuolized cytoplasm in the Schwann cells. Cytochemically, the patient's myotubes stained very intensely for acid phosphatases. The increased acid phosphatase activity was quantitatively confirmed by cytophotometric evaluation performed on patient and control parallel myotubes. This is the first evidence that an increase in acid phosphatases has been quantitatively demonstrated in cultured muscle from a patient with acute infantile onset acid maltase deficiency (Pompe's disease) although the enzymatic activity was assayed at only one time of incubation.
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PMID:Infantile-acute acid maltase deficiency (Pompe's disease): studies of muscle cultures. 644 May 27

An infant died at 8 months of age with a history of developmental regression, hypotonia, severe weakness, cardiomegaly, congestive heart failure, and hepatomegaly. A diagnosis of Pompe's disease (glycogenosis type II) was established by muscle biopsy at 5 months of age. Vacuolar myopathy involved muscle fibers of histochemical type I more than type II. Many vacuoles were filled with glycogen. In addition, increased amounts of neutral lipid were demonstrated by oil red O stain, electron microscopy, and quantitative analysis. Acid alpha-1,4-glucosidase activity was demonstrated to be deficient. Biochemical studies failed to determine the cause of the lipid accumulation, but demonstrated a low total concentration of carnitine in the muscle (6.37 nmole/mg of protein), associated with elevated activities of carnitine palmityl-transferase and palmityl-coenzyme A dehydrogenase. Palmityl-coenzyme A synthetase activity was in the normal range.
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PMID:Lipid storage myopathy in infantile Pompe's disease. 646 16

A brief report on the clinical studies of schistosomiasis japonica at Langko village in the Lindu lake area was given. The studies consisted of stool surveys, COPT, evaluation of the signs and symptoms of schistosomiasis, determination of the liver and spleen enlargement as well as the disease index and the clinical gradient. It seemed that the stool examinations as well as the COPT were considered sufficient, accurate and practical for mass surveys. The result of evaluation of the signs and symptoms of schistosomiasis at Lindu lake area showed that dermatitis, dysentry, abdominal pain, nausea and vomiting, loss of appetite, weakness, shortness of breath, distension of the abdomen, melena, icterus, and hepatomegaly were found to be significantly different between the schistosomiasis group and the control group. This finding was almost similar to the findings reported by Billings et al. (1946) and Pesigan et al. (1958), only the frequencies of occurrence were different. The clinical gradient of schistosomiasis at Lindu lake area was mostly of the mild type of the disease.
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PMID:Clinical study of Indonesian schistosomiasis at Lindu lake area, Central Sulawesi. 653 66

To determine whether prevalence and intensity of infection are factors in morbidity in schistosomiasis japonica, a cross-sectional study was undertaken in three villages in Leyte, Philippines, namely, Santol (A), Santa Rosa (B), and Macanip (C). Kato thick-smear fecal examination and egg counts were made on 289 of 341 residents in Village A (85%), 824 of 1,008 in Village B (82%), and 1,113 of 1,241 in Village C (90%). Prevalences of 26%, 39%, and 44%, respectively, were found in the three villages, the majority of their populations (56-74%) remaining uninfected. Most of the infected persons (17-30% of the total population) had light infections (10-100 eggs/g feces). Moderately infected persons (101-400 eggs/g) comprised a smaller segment (7-14%), while a very small proportion (2-7%) had heavy infections (greater than or equal to 401 eggs/g). Age prevalence and egg excretion peaked earlier in the areas with higher prevalence (B and C) than in the area with the lowest prevalence (A). There was no relationship between area prevalence and mean egg count. Symptoms of inability to work, weakness, abdominal pain, and diarrhea correlated with the presence of infection in the area with the highest prevalence (C), but not in the area with the lowest prevalence (A). Except for diarrhea, there was no relationship between symptoms and intensity of infection. Very few persons presented with hepatomegaly and/or splenomegaly (1-5%). The frequency of liver enlargement on the midsternal (measuring 3-6 cm and 6 cm or more) and midclavicular line (2-4 cm), as well as spleen enlargement (Hackett 2 or greater), correlated with the presence but not with the intensity of infection. Hepatomegaly was sex- and age-related, being most common among males and among adolescents aged 10-14 years.
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PMID:Relationship of prevalence and intensity of infection to morbidity in schistosomiasis japonica: a study of three communities in Leyte, Philippines. 665 Jul 34

Schistosomiasis japonica remains endemic in several provinces south of the Yangtze River in China because of relatively sparse populations of human beings and dense populations of snails. We studied two brigades in a rural commune in Gui-chi County, Anhui Province, to determine the prevalence, intensity, and morbidity associated with this infection before concerted control efforts were instituted. Quantitative fecal examinations, histories, and physical examinations relevant to schistosomiasis japonica were performed in 96 per cent of the available population 2 to 65 years of age. The prevalence was 26.3 per cent in Brigade A (778 persons) and 14.4 per cent in Brigade B (1532 persons). Clinical symptoms and signs were compared among uninfected persons and persons at three levels of infection as determined by fecal egg output. Some increased weakness was seen only at the heaviest levels of infection; abdominal pain was not an important symptom. Hepatomegaly was somewhat more frequent in moderate and heavy infections, but splenomegaly was rare and unrelated to intensity of infection. Neither stool consistency nor occult blood was related to the presence or intensity of infection. Approximately 50 per cent of the population had been treated for schistosomiasis japonica, 25 per cent repeatedly.
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PMID:Morbidity in schistosomiasis japonica in relation to intensity of infection. A study of two rural brigades in Anhui Province, China. 665 48

Glycogen storage disease due to amylo-1,6-glucosidase deficiency was diagnosed in a 21-year-old patient. The enzyme defect was demonstrated by biochemical analysis of muscle tissue, the glycogen content of which was typically increased. Investigation of the patient's kindred showed that his 25-year-old sister was also affected. This report sets out to show that in adolescence and in adult life myopathy may be the leading symptom of the disease. Besides the clinical symptoms of muscle weakness and stiffness, an increase in serum creatine kinase usually is found. While an increase in the glycogen content of skeletal muscle has been known since the first description of this glycogen storage disease, it was believed that the glycogen deposits do not cause a clinically relevant disturbance of muscle function. A review of the literature and our own observations show that this assumption has to be at least partially revised. In patients with unclear myopathy who had hepatomegaly during childhood the possibility of glycogenosis due to amylo-1,6-glucosidase deficiency should be considered, especially if symptoms of hypoglycemia are reported. In the patient as well as in his sister marked kyphoscoliosis was present. Whether there is a connection between skeletal deformity and enzyme defect cannot be determined as the patients were available for further studies.
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PMID:[Glycogenosis caused by amylo-1,6-glucosidase deficiency. Myopathy as a lead finding in adults]. 679 Dec 75


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