Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In order to investigate the objective index of the type of differentiation of symptoms and signs between chronic hepatitis and cirrhosis, the levels of serum Tes, ALD, HCT, INS, GR, gastrin, T3, T4, TSH were tested in the chronic hepatitis and cirrhosis of 27 cases of sthenia-syndrome and 61 cases of asthenia-syndrome. Meanwhile, 30 cases of healthy people were taken as the control. The results indicated that the levels of serum Tes, T3, T4, gastrin in the group of asthenia-syndrome (P less than 0.01, P less than 0.05). The levels of serum T4 and gastrin were increased in the group of sthenia-syndrome than in the groups of asthenia-syndrome and control (P less than 0.01). The levels of serum ALT, HCT, INS, and GR were significantly different between the group of asthenia-syndrome and that of sthenia-syndrome. This suggests that clinic symptoms were concerned with the level of serum endocrine on chronic hepatitis and cirrhosis, such as the function of genital, thyroid, adrenal gland and pancrease. The observation of the levels of serum Tes, T3, T4, ALT, INS, GR and gastrin may be an objective index to differentiate the chronic hepatitis and cirrhosis.
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PMID:[Relation between chronic hepatitis and cirrhosis in the type of differentiation of symptoms and signs and endocrine hormone]. 206 92

Infantile Refsum's disease (IRD) is a peroxisomal deficiency disease which is closely related to neonatal adrenoleukodystrophy (NALD) and the Zellweger syndrome (ZS). Recent observations suggest that NALD and ZS are separate genetic disorders but the delimitation towards IRD remains uncertain. We present here the first autopsy report of a patient who was clinically and biochemically diagnosed as having IRD, and we compare the findings with those from NALD and ZS. The main gross and microscopic findings comprised micronodular liver cirrhosis, small hypoplastic adrenals without degenerative changes, and large groups of lipid macrophages in liver, lymph nodes and certain areas of the cerebral white matter. The brain showed no malformations except for a severe hypoplasia of the cerebellar granule layer and ectopic location of the Purkinje cells in the molecular layer. A mild and diffuse reduction of axons and myelin was found in the corpus callosum and periventricular white matter, the corticospinal tracts, and the optic nerves. Large numbers of perivascular macrophages were present in the same areas but there was no active demyelination. The retina and cochlea showed severe degenerative changes. Peripheral nerves, skeletal system and kidneys were normal. Electron microscopy showed characteristic cytoplasmic inclusions with bilamellar profiles in macrophages in the liver, lymph nodes and brain but not in the adrenals. Similar inclusions were found in liver cells and astrocytes. The findings differ from ZS which shows cortical renal cysts, skeletal changes, liver changes, cerebral micropolygyria, neuronal heterotopias, and demyelination of the white matter. Cases with NALD show mild cerebral malformations, active demyelination, degenerative changes of the adrenals, liver changes, and bilamellar electromicroscopic inclusions in macrophages. Our cases thus resembled NALD but lacked active demyelination, cerebral cortical malformations and adrenal degenerative changes. Further autopsy studies will be necessary to determine whether these changes are consistent findings in IRD.
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PMID:Infantile Refsum's disease: a generalized peroxisomal disorder. Case report with postmortem examination. 245 20

Serum pipecolic acid was measured in patients with neonatal adrenoleukodystrophy (NALD), sex-linked ALD, and the cerebrohepatorenal syndrome of Zellweger. Pipecolic acid was elevated, often markedly, in most of the patients with NALD but in none of those with X-linked ALD or adrenomyeloneuropathy, or in normal adults and children, or children with cirrhosis or other neurodegenerative disorders. The demonstration of elevated serum pipecolic acid in NALD adds to the previously recognized elevation of very-long-chain fatty acids (another Zellweger syndrome sign) and suggests that generalized peroxisomal dysfunction may be a characteristic of NALD as it appears to be of Zellweger syndrome, which diseases share some clinical characteristics. The nosologic significance of these findings is discussed.
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PMID:Hyperpipecolic acidemia in neonatal adrenoleukodystrophy. 651 2

Blood samples from 29 healthy individuals (control), 16 chronic alcohol abusers without clinical symptoms of liver disease, 22 patients with alcoholic steatosis and 31 patients with alcoholic cirrhosis were obtained. The antiviral activity, only partially neutralized by polyclonal and monoclonal anti-HuIFN-alpha and monoclonal anti-HuIFN-gamma antibodies, was detected in sera of 38% healthy controls and of 64-77% alcoholic abusers without or with ALD. To measure the activity of the IFN system, leukocyte cultures of chronic alcohol abusers and control individuals were set up using a whole blood technique. Common IFN inducers: NDV, PHA and ConA were used. Blood leukocytes of patients with alcoholic steatosis and cirrhosis responded to NDV, PHA and ConA with significantly lower IFN levels than controls, whereas IFN response of alcoholics without liver diseases was lower only after stimulation with ConA. Regarding the lymphoproliferative test performed with PHA, a remarkably diminished lymphocyte response of patients with cirrhosis was observed as compared to control. Our data indicate that long term ethanol intake impairs the ability of leukocytes and their subpopulation to produce IFNs. The correlation between ALD progression and the defect in IFN production suggests that suppressive action of ethanol, liver injury and immune reactions involved in liver damage may be responsible for impairment of the IFN system in heavy drinkers.
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PMID:Interferon production by peripheral blood cells of patients with alcoholic liver disease (ALD). 748 59

The authors present and discuss the care of a nine-month-old with neonatal adrenoleukodystrophy who required general anaesthesia for gastrointestinal endoscopy. Neonatal adrenoleukodystrophy is an inherited disorder of peroxisomal enzymes. Anaesthetic care may be affected by the presence of hypotonia, liver function abnormalities, gastroesophageal reflux, and impaired adrenocortical function. Preoperative sedation is contraindicated because of the risk of precipitating airway obstruction due to pre-existing hypotonia. Anaesthetic induction and tracheal intubation should be performed to minimize the risk for aspiration of gastric contents. The choice of muscle relaxant should take into account the pre-existing hypotonia as well as the possibility of hyperkalaemia in response to succinylcholine. Anaesthetic agents known to decrease the seizure threshold should be avoided in patients with a seizure disorder. In addition, anaesthetic agents that rely on the liver for metabolism should be used with caution in patients with cirrhosis. When time permits, these patients should be screened for adrenocortical insufficiency before surgery, and perioperative steroid coverage is advisable when preoperative testing of adrenocortical function is not feasible. While these patients eventually die after progressive deterioration, full recovery from the effects of anaesthesia and surgery can be achieved with attention to neurological, metabolic, and physical problems.
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PMID:Anaesthesia for the patient with neonatal adrenoleukodystrophy. 811 45

Peroxisomes or microbodies are peculiar subcellular organelles with an important role in the metabolism of a variety of different organic compounds. Particularly they are an important site of bile acids synthesis. Some hepatic diseases, mainly cholestatic, can to be reconnected at disorders of bile acids synthesis by these organelles. From the biochemical point some diseases present alterations of the cholesterol side chain (Zellweger syndrome, pseudo-Zellweger syndrome, infantile Refsum's disease, neonatal adrenoleukodystrophy), other diseases present errors involving the steroid nucleus (familial giant cell hepatitis). Zellweger disease or cerebro-hepato-renal syndrome is characterized clinically by skeletal changes, muscle hypotonia, renal cysts, psychosomatic retardation and persistent cholestasis and from the ultrastructural standpoint by the virtual absence of liver cell peroxisomes. Pseudo-Zellweger disease shows many of the clinical features of Zellweger disease but differs from this condition on account of the presence of abundant peroxisomes in the liver cells. Infantile Refsum's disease and neonatal adrenoleukodystrophy show typical clinical disorders and liver damage leading to cirrhosis. "Familial giant cell hepatitis" is characterized by jaundice from the first days of life, hepatosplenomegaly, cholestasis, lack of physical malformations. The disorder is due to defective biosynthesis of the bile acids with formation of allo-bile acids.
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PMID:[Liver pathologies due to peroxisome disorders]. 818 91

The peroxisomal disorders represent a group of inherited metabolic disorders that derive from defects of peroxisomal biogenesis and/or from dysfunction of single or multiple peroxisomal enzymes. We described earlier an 8 1/2 year-old with a history of progressive developmental delay, micronodular cirrhosis, and elevated very long chain fatty acids in plasma and skin fibroblasts. These findings were felt to be compatible with both neonatal adrenoleukodystrophy (nALD) and Zellweger syndrome (ZS). This patient is now 21 years old and his clinical course, inconsistent with either nALD or ZS, led us to examine his peroxisomal status in light of a possible new peroxisomal disease. The normal levels of bile acid precursors found in this patient suggest that peroxisomal beta-oxidation is functional. The activities of dihydroxyacetone phosphate acyltransferase and oxidation of lignoceric acid and phytanic acid were 14, 17, and 15% of the control, respectively. This partial activity for oxidation and the normal levels of bile acid precursors suggests that this patient has peroxisomes containing beta-oxidation enzymes. Western blot analysis of subcellular organelles showed that beta-oxidation enzyme proteins are present at normal levels in catalase-negative peroxisomes of density equivalent to normal peroxisomes. The presence of acyl-CoA oxidase and 3-ketoacyl-CoA thiolase in catalase-negative peroxisomes suggests that both peroxisomal targeting signal-1 (PTS-1), and peroxisomal targeting signal-2 (PTS-2)-mediated protein transport processes into peroxisomes are normal in this patient. These findings of catalase-negative peroxisomes of normal density and normal PTS-1 and PTS-2 import machinery with partial peroxisomal functions clearly demonstrate that this patient differs from those with known disorders of peroxisomal biogenesis.
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PMID:Biochemical features of a patient with Zellweger-like syndrome with normal PTS-1 and PTS-2 peroxisomal protein import systems: a new peroxisomal disease. 925 85

A prospective study of 101 consecutive patients of portal hypertension was carried out to study the possible relationships between bone marrow activity on 99m technetium labelled sulphocolloid scan and severity of liver disease, etiology of portal hypertension and cirrhosis, as well as presence and extent of collateral circulation, including esophageal varices. The patients were divided into 4 etiological groups: alcoholic cirrhosis (ALD), (38) non-alcoholic cirrhosis (NALD) (35) non-cirrhotic portal fibrosis (NCPF) (14) and extrahepatic portal vein obstruction (EHPVO) (14). Patients of cirrhosis were categorised according to modified Child-Pugh's classification. Esophageal varices were graded endoscopically as (1) no varix (2) small varices (< 5mm) (3) large varices (> 5mm). All patients underwent radionuclide imaging using 99m Technetium labelled sulphocolloid and bone marrow activity was studied. Evaluation of portasystemic collaterals was done ultrasonically. We found that 16.6%, 44.6% and 72.72% patients with Child A, B and C cirrhosis respectively, had increased marrow activity (p < 0.05). There was no significant difference between marrow activity of patients with ALD (52.6%) and NALD (40%). None of the non-cirrhotic patients demonstrated bone marrow uptake of radioisotope. There was no significant difference between bone marrow uptake presence of lienorenal collaterals and presence or size of esophageal varices. We thus conclude the bone marrow activity on radioisotope scanning depends only on the severity of liver disease and does not vary a according to the etiology of cirrhosis, or presence and extent of portasystemic collaterals, including esophageal varices.
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PMID:Significance of radioisotope bone marrow uptake on 99m technetium sulphocolloid scan in portal hypertension. 928 75

Alcohol has been implicated in the genesis of liver disease for centuries. Modern epidemiological data from many societies corroborate the correlation between per capita consumption of alcohol and deaths from cirrhosis. Although significant progress has been made in our understanding of the pathogenesis of alcoholic liver disease, ALD, effective therapies for most individuals with ALD have not been found. High per capita consumption of alcohol, coupled with the dearth of effective treatments and the failure of most affected individuals to abstain from alcohol, explains why ALD is one of the most prevalent forms of disabling, chronic liver disease.
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PMID:Alcoholic liver disease: natural history. 934 41

The applicability of liver transplantation for ALD remains limited because of ethical arguments and also because of the perception of poor outcome after transplantation. Patients with alcoholic cirrhosis are known to do as well as patients with nonalcoholic liver disease after receiving liver allografts; however, the outcome in patients with severe acute alcoholic hepatitis in this setting is unclear. We studied 9 liver transplant recipients in whom severe acute alcoholic hepatitis was retrospectively diagnosed; 8 had underlying cirrhosis, and 1 had advanced fibrosis. All had Maddrey's discriminant function > 32, and most had hepatic encephalopathy and hepatorenal syndrome. History regarding abstinence was unreliable in some patients. Episodes of acute cellular rejection responded quickly to therapy, and despite recidivism in some patients, long-term survival was comparable to that of patients receiving transplants with alcoholic cirrhosis alone and those with a milder degree of alcoholic hepatitis and cirrhosis. This study suggests that severe acute alcoholic hepatitis may not be an appropriate contraindication for liver transplantation.
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PMID:Survival and quality of life after liver transplantation for acute alcoholic hepatitis. 934 46


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