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)

Three patients with hereditary tyrosinemia type 1, two brothers and one girl, studied at the age of 5, 12 and 15 years, respectively, had neither generalized hyperaminoaciduria, glucosuria nor clinical symptoms of rickets. Untreated the elder brother had only slightly elevated plasma tyrosine level (141 mumol/l, normal less than 80), and low excretion of p-hydroxyphenyllactate. He presented with pronounced thrombocytopenia (3 X 10(9)/l). At 13 years of age he contracted hepatocellular carcinoma. The younger brother presented with serum tyrosine of 318 mumol/l and thrombocyte count 48 X 10(9)/l. Succinylacetone in urine was elevated in both, 30 and 79 mumol/mmol creatinine, respectively. The female patient was investigated for hepatomegaly in infancy, atypical tyrosinemia being considered, but afterwards developed normally without diet or any other treatment until she contracted hepatoma at the age of 15 years. Her plasma tyrosine level was 600-700 mumol/l, and she excreted large amounts of p-hydroxyphenyllactate. Succinylacetone in urine was low but elevated (8 mumol/mmol creatinine). The fumarylacetoacetase activity in fibroblasts from the brothers and in lymphocytes from the girl was less than 5% and 10% of control levels, respectively. In conclusion, the chronic form of hereditary tyrosinemia may occur without evidence of renal tubular dysfunction.
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PMID:Hereditary tyrosinemia of chronic course without rickets and renal tubular dysfunction. 226 24

Predictive factors for the first digestive tract hemorrhage and for death in cirrhotic patients have been partially studied in prophylactic shunt trials and never prospectively according to multivariate analysis method. We prospectively followed 106 cirrhotic patients (88 p. 100 with alcohol abuse) with large esophageal varices without past history of bleeding during a mean period of 13.3 +/- 6.1 months. Of 23 clinical and biochemical variables recorded at entry as well as alcohol withdrawal evaluated during the course of the study, we looked for those which had independent prognostic value for the risks of bleeding and death according to a multiple regression analysis (Cox's model). At the end of the study, 30 patients had bled and 40 were dead. The cumulative one-year percentages of patients were 72 p. 100 free of bleeding and 65 p. 100 surviving (95 p. 100 confidence limits: 62 and 81, 54 and 73, respectively). The bleeding risk was positively correlated with variceal size, plasma creatinine and negatively correlated with age and mean arterial pressure. The bleeding risk varied according to variceal size: medium: 23 p. 100, large: 44 p. 100 (p less than 0.05). An increase in Child-Pugh score, plasma creatinine and mean corpuscular volume as well as hepatomegaly were independent predictive factors for death. The death rate was (according to Child-Pugh grade): A: 14 p. 100, B: 33 p. 100, C: 50 p. 100 (p less than 0.01). We conclude that bleeding risk is maximum in young patients with large varices and the death rate is dependent on severity of liver disease.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Predictive factors of the first digestive hemorrhage and death in cirrhotic patients with esophageal varices]. 278 97

A 2.5-year-old girl who presented with abdominal distension, hepatomegaly, coarse facies, hirsutism and contraction deformities was investigated for mucopolysaccharidoses. Urinary excretion showed increased total glycosaminoglycans (105 mg/mmol creatinine; normal for age 9-20 mg/mmol) with marked increases of dermatan and heparan sulphates. A number of lysosomal enzyme activities were measured on leucocytes, serum and cultured fibroblasts. Normal or high activities were found for alpha-iduronidase, N-acetylgalactosamine-6-sulphatase, beta-galactosidase, arylsulphatase B and beta-glucuronidase. However a marked deficiency of iduronate sulphate sulphatase activity was observed, consistent with a diagnosis of Hunter's disease. Activities were reduced to less than 2% of mean control values in the patient's leucocytes, serum and cultured fibroblasts. Normal activities were measured in samples from the father and younger sister but a partial deficiency (43% of control serum) was found in the mother. Chromosome studies on the patient revealed a partial deletion of the long arm of one X-chromosome, most probably of band Xq25, which was not inherited from either parent. Studies using BrdU indicated that the deleted X chromosome was consistently late replicating, and as a result the Hunter gene was fully expressed on the other X chromosome.
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PMID:Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivation. 310 Jan 13

d.d-T80-prallethrin, a pyrethroid insecticide for sanitary use, was administered to Crj : CD (Sprague Dawley) rats at concentrations of 120, 600 or 3,000 ppm in diet for one year to assess the chronic toxicity potential and the reversibility. The summarized results obtained are as follows: 1. Chronic toxicity study 3,000 ppm : Decreases in body weight gain, food consumption, and water intake were observed. Slight alopecia in the neck and/or back was noticed during the first and second weeks, but the animals were recovered thereafter. Slight anemic changes such as decreases in hemoglobin concentration, hematocrit value, MCV and MCH were observed in the females at 52 week. Blood biochemistry revealed increases in total cholesterol (in the males and females at 13, 26 and 52 weeks), phospholipid (in the males and females at 13, 26 and 52 weeks), albumin (in the males at 13 and 26 weeks, in the females at 52 week), total protein (in the males at 26 week, in the females at 52 week), A/G ratio (in the males at 13 week, in the females at 26 week), creatinine (in the males at 52 week), urea nitrogen (in the females at 52 week), GOT (in the males and females at 52 week) and GPT (in the males and females at 52 week), and decreases in triglyceride (in the females at 26 and 52 weeks) and alkaline phosphatase (in the males at 13 and 52 weeks). In urinalysis, an increase in bilirubin was observed in the males at 52 week. Gross-pathology revealed a lower incidence of accentuated lobular pattern of liver (in the males at 26 week) and a higher incidence of enlarged liver (in the males at 52 week). In organ weight, increases in liver (in the males and females at 26 and 52 weeks), kidney (in the males at 26 and 52 weeks) and thyroid weights (in the males at 26 and 52 weeks, in the females at 26 week), and decreases in spleen (in the females at 26 and 52 weeks) and adrenal weights (in the females at 52 week) were observed. Histopathological examination revealed a lower incidence of fatty metamorphosis in the liver of females at 52 week. 600 ppm: An increase in liver weight was observed in the males at 26 week. 120 ppm: No effect was observed. 2. Reversibility study Almost all the above chronic toxicities were reversible.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[One-year chronic dietary toxicity study of d.d-T80-prallethrin in rats]. 344 42

A 7-year-old adult male ferret had progressive hair loss that was bilaterally symmetric. Also clinically evident were severe dehydration, polydipsia, muffled heart sounds, weak femoral pulses, hepatomegaly, lethargy, weakness, temporal muscular atrophy, dyspnea, and weakness. The blood profile of the ferret indicated profound leukopenia, eosinopenia, and high phosphorus, BUN, creatinine, and potassium concentrations, as well as high aspartate transaminase activity; the albumin concentration was low. The serum cortisol concentration was 8.1 micrograms/dl. Necropsy and histologic findings confirmed a diagnosis of hyperadrenocorticism, complicated by dilatative cardiomyopathy, chronic active hepatitis, and renal disease.
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PMID:Hyperadrenocorticism in a ferret. 365 2

One hundred sixty-eight patients with primary systemic amyloidosis (AL) were identified. Median survival after diagnosis was 12 months and ranged from 4 months for patients presenting with congestive heart failure to 50 months for those presenting with peripheral neuropathy only. Utilizing the proportional-hazards model in a stepwise multivariate fashion to evaluate the simultaneous influence of putative risk factors as of diagnosis revealed that congestive heart failure, urine light chain, hepatomegaly, and multiple myeloma were the major factors adversely affecting survival during the first year after diagnosis. Serum creatinine, multiple myeloma, orthostatic hypotension, and monoclonal serum protein were the most important variables adversely affecting survival for patients surviving 1 year. These models were used to categorize patients according to the variables in the models into low-, moderate-, and high-risk groups for the first year after diagnosis and separately for subsequent years. The influence of these variables on survival is important in stratification of patients randomized to prospective clinical trials.
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PMID:Primary systemic amyloidosis: multivariate analysis for prognostic factors in 168 cases. 371 98

Forty-three patients with spontaneous bacterial peritonitis (SBP) between 1973 and 1978 were identified. Criteria for SBP included a positive ascites culture and polymorphonuclear cell concentration greater than 250 cells per mm3. Chronic liver disease was documented by varices in 91%, severe histologic fibrosis or cirrhosis in 94%, splenomegaly in 91%, and past hospitalization for liver disease in 57% of the patients. SBP was detected within 7 days of admission in 17 patients (40%) and within 35 days in 38 patients. Single organisms were isolated from 38 patients and multiple organisms from 5 patients. Twenty-six of 43 patients survived the episode of SBP, but only 13 survived the hospitalization. Analysis of the survival curve from the onset of SBP revealed a rapid death rate and a slow death rate set of patients. Rapid death (less than or equal to 7 days from SBP onset) correlated with a lack of prior hospitalization for liver disease (p less than 0.001), hepatomegaly (p less than 0.001), increased serum bilirubin (p less than 0.005), serum creatinine (p less than 0.05), and peripheral white blood cell concentrations (p less than 0.05). Survival during hospitalization was associated with prior hospitalization with liver disease (p less than 0.001) and chills during the episode of SBP (p less than 0.001). The 43 patients were divided into Group 1 patients on the basis of a serum bilirubin greater than 8 mg% and/or serum creatinine greater than 2.1 mg%; Group 2 patients had lower values. Survival was greater in Group 2 patients with advanced, relatively quiescent liver disease compared to Group 1 patients for both the episode of SBP (91 vs. 29%; p less than 0.001) and for hospitalization (50 vs. 9%; p less than 0.05). Death in Group 2 patients was related to inadequate antibiotic therapy (p less than 0.05), nonhepatic factors, and new onset of renal failure. Although SBP in the setting of severe acute liver injury has a dismal prognosis, SBP with minimal acute liver injury has a relatively good prognosis for hospital survival even with advanced chronic liver disease. Long-term survival is also possible since 4 of 9 patients with prolonged follow-up have survived 3 years.
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PMID:Spontaneous bacterial peritonitis. 709 41

A 6-year-old girl with Turner's syndrome presented with recent onset of proteinuria and pedal edema. There was no history of arthritis, fever, or abdominal pain. A physical examination revealed the stigmata of Turner's syndrome, hepatomegaly, and pedal edema. The urine contained 4+ protein without red blood cells or casts, and the BUN and creatinine were mildly elevated. The serum lipids were normal. An excretory urogram showed bilaterally enlarged, smooth kidneys without calyceal distortion. Because the proteinuria failed to respond after 1 month of steroid therapy, a diagnostic procedure was performed.
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PMID:A six-year-old girl with Turner's syndrome and proteinuria. 734 31

A few hours after a 15 km march a 19-year-old man developed a fever of 40 degrees C, accompanied by hemoptysis, tarry stools and pain in the thigh. On physical examination there was tenderness and swelling over the shoulders, upper arms and thighs as well as petechiae, bruises, hepatomegaly, pain on percussion over the kidney region and signs of hypovolaemia. There was leukocytosis (18,800/microliters) and increased creatinase activity (3900 U/l, rising to 66,300 U/l after 24 h). The platelet count fell from 147,000 to 11,000/microliters, the fibrinogen level to 0.25 milligrams. On the second day serum creatinine was 4.1 mg/dl, urine volume 50 ml/24 h, urinary myoglobin concentration 120,000 micrograms/l. The Quick value dropped to under 3%, while liver enzymes and bilirubin concentration rose. The rhabdomyolysis caused acute respiratory failure, despite symptomatic treatment of the acute renal failure and consumption coagulopathy, but after 8 weeks of intensive treatment the patient was discharged without symptoms. No cause other than the preceding physical exertion was found for the rhabdomyolysis. Muscle biopsy revealed unspecific changes 4 1/2 months after discharge.
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PMID:[Complications of an idiopathic rhabdomyolysis (Meyer-Betz syndrome) after physical exertion]. 786 81

Time-velocity wave-form analysis of Doppler signals from small intrarenal arteries allows estimation of intrarenal arteriolar vascular resistance. Among the various indexes proposed, the resistive index is the most widely used for this estimation. To investigate whether the resistive index is useful in the diagnosis of functional kidney failure and prediction of survival in cirrhotic patients with ascites, we measured resistive index, kidney and liver function and plasma levels of renin, aldosterone and antidiuretic hormone in 10 healthy subjects, 12 patients with compensated cirrhosis and 32 patients with cirrhosis and ascites (17 with kidney failure). A total of 28 clinical and laboratory variables were analyzed for prognostic value. Resistive index was significantly increased in patients with kidney failure (0.74 +/- 0.01) compared with those in the other three groups (0.64 +/- 0.01, 0.64 +/- 0.02 and 0.67 +/- 0.01) and correlated significantly with glomerular filtration rate, arterial pressure, plasma renin activity and free water clearance in the cirrhotic patients. The sensitivity and specificity of the resistive index in detecting kidney failure in patients with ascites were 71% and 80%, respectively. Nine variables were correlated with survival in the univariate analysis, including resistive index, age, hepatomegaly, blood urea nitrogen, serum creatinine, plasma sodium concentration, glomerular filtration rate, plasma renin activity and plasma concentration of antidiuretic hormone. Multivariate analysis disclosed only three independent predictors of survival: plasma renin activity, plasma concentration of antidiuretic hormone and serum sodium concentration. In conclusion, resistive index is a sensitive method to assess intrarenal hemodynamics in patients with cirrhosis and ascites. It also has predictive value for survival in these patients.
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PMID:Diagnosis of functional kidney failure of cirrhosis with Doppler sonography: prognostic value of resistive index. 792 24


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