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)

The authors experienced an extremely rare case of secondary sclerosing cholangitis and portal hypertension developed as late complications of hemolytic uremic syndrome (HUS) owing to Escherichia coli O157:H7 in a 2-year-old boy. HUS after E coli O157 infection is the most frequent cause of acute renal failure in childhood and occasionally is accompanied by extrarenal complications such as encephalopathy, cardiomyopathy, ischemic colitis, and pancreatitis. Rarely, late colonic stenosis may develop secondary to the ischemic damage. Sclerosing cholangitis and subsequent cirrhosis with portal hypertension are very uncommon as late complications of HUS. To our knowledge, such a case has not been previously reported in the literature. J Pediatr Surg 36:1838-1840.
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PMID:Secondary sclerosing cholangitis and portal hypertension after O157 enterocolitis: Extremely rare complications of hemolytic uremic syndrome. 1173 19

Nitric oxide (NO) has diverse physiological and pathophysiological effects. The roles of NO in the renal and cardiac dysfunction found in cirrhosis are reviewed. In the kidneys of experimental animals with cirrhosis, several lines of evidence speak in favour of an enhanced production of NO, through the activation of both endothelial constitutive and inducible isoforms of NO synthase. In contrast with the situation in normal animals, inhibition of NO synthesis in rats with cirrhosis improves sodium and water excretion via blood pressure-dependent and -independent mechanisms, which indicates that the renal sodium and water retention of cirrhosis is related to an excess of NO production. The deleterious effect of excessive NO on the kidney may be mediated by peroxynitrite, a potent oxidant that is readily formed whenever superoxide anions and the *NO radical are produced together. The peroxidation of arachidonic acid by peroxynitrite leads to the formation of F(2a)-isoprostanes, which are powerful renal vasoconstrictors. F(2a)-isoprostane levels are correlated with the severity of liver injury during cirrhosis. However, whether peroxynitrite or F(2a)-isoprostanes are the elusive mediator of the NO-induced renal alterations in cirrhosis remains to be firmly established. NO is also involved in cardiac contractility, probably in the normal heart as well as in disease conditions such as non-cirrhotic and cirrhotic cardiomyopathy. In the latter state, evidence suggests that inducible NO synthase attenuates ventricular contractility, mediated by cGMP. Another gas that transduces its signal through cGMP, carbon monoxide, is also likely to play a role in cirrhotic cardiomyopathy, but the nature of the interaction between NO and carbon monoxide in this syndrome remains unclear.
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PMID:Nitric oxide and renal and cardiac dysfunction in cirrhosis. 1183 41

Genetic haemochromatosis is one of the most frequent inborn errors of metabolism. Only patients with early non-cirrhotic haemochromatosis treated by phlebotomies have a normal life expectancy. The present review analyses strategies for early diagnosis of haemochromatosis by using the Medline database and own data from a large cohort of patients with haemochromatosis. The still widely used approach to look for haemochromatosis in the presence of clinical complications such as liver disease will detect haemochromatosis in a considerable percentage of patients with Celtic origin. However, up to one half of these patients will already have an irreversible complication such as liver cirrhosis, diabetes mellitus or cardiomyopathy. In contrast, screening approaches of non-selected asymptomatic subjects using either determination of transferrin saturation and serum ferritin (phenotypic screening) or using genetic testing will detect haemochromatosis in most subjects in a precirrhotic stage without irreversible complications. Both phenotypic and genetic screening are highly cost-effective for detection of iron-loaded individuals in the general population. The current clinical approach to look for haemochromatosis in the presence of clinical disease is unacceptable. Only a more general type of screening in asymptomatic subjects including genetic testing will increase the rate of early diagnosis and will further improve the clinical outcome.
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PMID:Strategies for early diagnosis of haemochromatosis. 1195 85

Hereditary hemochromatosis is an inherited disorder of iron metabolism affecting approximately 1 in 200 to 300 individuals of Northern European descent. Over time, the continued deposition of iron in parenchymal cells of many organs can eventually lead to diabetes mellitus, cardiomyopathy, and hepatic cirrhosis, the last of which is frequently followed by hepatocellular carcinoma. Although the complications of hereditary hemochromatosis can be devastating, its clinical management is simple and effective if the disease is identified early in its progression. In affected individuals, it is important to confirm or exclude the presence of cirrhosis and begin therapy as early as possible. The insidious onset and high prevalence of nonspecific symptoms in the early stages of the disease requires the clinician to have a high index of clinical suspicion for this disease. This is particularly important because treatment before there is permanent organ damage can reverse the iron toxicity and restore life expectancy to normal. Because of its familial occurrence all first-degree relatives of patients with hereditary hemochromatosis should be tested for the disease.
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PMID:Diagnosis of hemochromatosis. 1206 63

There is abundant epidemiological and clinical evidence showing that light-moderate drinking is associated with a reduced risk of coronary heart disease (CHD), total and ischaemic stroke and total mortality in middle-aged and elderly men and women. The epidemiological evidence suggests a J- or U-shaped relationship between alcohol and CHD. However, the apparent benefits of moderate drinking on CHD mortality are offset at higher drinking levels by increasing risk of death from other types of heart diseases (cardiomyopathy, arrhythmia etc.), neurological disorders, cancer, liver cirrhosis, and traffic accidents. The plausible mechanisms for the putative cardioprotective effects include increased levels of high-density lipoprotein cholesterol, decreased levels of low-density lipoprotein cholesterol, prevention of clot formation, reduction in platelet aggregation, and lowering of plasma apolipoprotein(a) concentration. Thus, alcohol reduces the risk of coronary vascular diseases both by inhibiting the formation of atheroma and decreasing the rate of blood coagulation.
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PMID:Cardioprotective effects of light-moderate consumption of alcohol: a review of putative mechanisms. 1221 28

The glycogen storage diseases (GSD) are a heterogenous group of inherited disorders involving one of the several steps of glycogen synthesis or degradation. Type III GSD, also known as Cori's or Forbe's disease, results from a deficiency of the enzyme, amylo-1,6-glucosidase, which is responsible for the breakdown or debranching of the glycogen molecule during catabolism. As a result of this deficiency, inadequate glycogen breakdown occurs, resulting in hypoglycaemia during periods of fasting or stress, as well as storage of excessive glycogen, predominantly in the liver. Glycogen accumulation in the liver leads to hepatogmegaly and, in some instances, hepatic dysfunction with cirrhosis in the third and fourth decades of life. Additionally, deficiency of the enzyme in skeletal and cardiac muscle can lead to skeletal muscle weakness and cardiomyopathy. We present a 28-month-old girl who presented for anaesthetic care for cardiopulmonary bypass and closure of an atrial septal defect. The potential perioperative implications of GSD type III are discussed.
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PMID:Perioperative management of a child with glycogen storage disease type III undergoing cardiopulmonary bypass and repair of an atrial septal defect. 1235 66

Iron overload in body tissues can cause complications such as cirrhosis, cardiomyopathy, diabetes, hypogonadism and arthritis. In populations of northern European descent, most iron overload is due to hereditary haemochromatosis (HHC), a genetic condition that causes increased iron absorption. HHC can be treated or prevented by regular phlebotomy treatments. Some experts have called for population screening for HHC, so that early phlebotomy treatment can be initiated. Two screening tests are available: measurement of the serum iron transferrin saturation (Tf%) and genetic testing for HFE mutations. However, both methods have low positive predictive values. Current data suggest that most people at risk are unlikely to develop clinical symptoms and that the population prevalence of clinical complications of HHC is low, arguing against population screening. Two other prevention strategies are available. (1) Health provider education, to heighten awareness of HHC as an explanation for symptoms and signs seen in early iron overload including unexplained fatigue, joint pain, palpitations, abdominal pain, elevated liver function tests, hepatomegaly and elevated serum ferritin. (2) Family-based testing after a diagnosis of HHC, to ensure that relatives are evaluated for evidence of iron overload. More research is also needed to identify the factors that increase risk for disease in persons with excess iron uptake, to determine whether moderate iron overload is a health risk and to evaluate the causes of iron overload other than HHC.
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PMID:Hereditary haemochromatosis: a realistic approach to prevention of iron overload disease in the population. 1240 10

Improvement in surgical techniques, technology and perioperative assessment has dramatically simplified the anaesthetic care for elective liver resection. Patients with a non-tumorous healthy liver should only need the usual preoperative assessment. Patients with pre-existing parenchymal liver disease should be specifically assessed for gas exchange impairment, alcoholic or nutritional-associated cardiomyopathy, infection, cirrhosis decompensation, acute alcoholic hepatitis, and kidney impairment. The type of anaesthetic management does not influence the intra- and postoperative courses. Intermittent clamping of the portal vascular triad is better tolerated than prolonged continuous periods of ischaemia--especially in patients with abnormal liver parenchyma. Intraoperative antibiotic prophylaxis must be administered to prevent translocation of intestinal enterobacteria to the systemic circulation in patients with both healthy and diseased livers. Blood-salvage techniques have limited indications in liver resection. Systematic invasive haemodynamic monitoring is no longer warranted. An arterial cannula should only be considered in procedures of long duration and in selected situations likely to cause anticipated circulatory impairment: total liver vascular occlusion, repeat surgery, combined organ resection, and surgery conducted on tumours >10 cm in size or in connection with the vena cava. In a recent large series of liver resections, 60% of patients did not need a blood transfusion, only 2% of transfused patients received >10 units of blood and cirrhosis was not predictive of increased intraoperative bleeding. Postoperative ascites, which always develops at the expense of circulating fluid, is a frequent occurrence in patients with healthy or diseased livers. Intra- and postoperative fluid limitation does not prevent postoperative ascites. Volume expansion, diuretics and vasopressor therapy should be initiated early to prevent kidney failure.
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PMID:Anaesthesia for elective liver resection: some points should be revisited. 1244 25

We report clinical and genetic characteristics of seven juvenile hemochromatosis (JH) patients (six females, one male) in two unrelated kinships from the southeastern U.S. All had severe iron overload. Mean age at diagnosis was 20 +/- 5 years (range 8-23 years). In six patients, the mean age at onset of signs and symptoms attributable to iron overload was 15 +/- 2 years (12-18 years); an 8-year-old girl had no symptoms. Six of the seven patients had hypogonadotrophic hypogonadism, two had severe cardiomyopathy, seven had hepatomegaly, two had hepatic cirrhosis, and five had hyperpigmentation. Two of four siblings with JH also had Hashimoto thyroiditis. One patient with severe cardiomyopathy improved with therapeutic phlebotomy, medical therapy for congestive heart failure, and a permanent pacemaker; the other died before phlebotomy was initiated. Estimates of average daily iron absorption before phlebotomy-induced iron depletion were 2.3, 3.1, and 1.7 mg in a male and two females, respectively. Both parents of four siblings with JH were heterozygous at two Ch1q loci (D1S1156, D1S2344); each of the four affected siblings was homozygous at both loci. An unaffected sib was heterozygous at D1S1156. One patient was heterozygous for HFE H63D, five others did not have HFE C282Y or H63D, and one was unavailable for testing. We conclude that JH occurs in the southeastern U.S. It is likely that JH allele(s) in at least one of the present kinships occur(s) on Ch1q, and presumably this represents a mutation(s) of the same gene localized to Ch1q in Italian and Greek JH kindreds. The present cases do not have HFE genotypes typical of hemochromatosis diagnosed in adults. Hashimoto thyroiditis, linked to Ch6p in many kinships, did not segregate with JH alleles on Ch1q in the present kinship.
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PMID:Juvenile hemochromatosis in the southeastern United States: a report of seven cases in two kinships. 1248 11

Even though the number of alcohol-dependent women is only about 1/3 of the number of alcoholic men, the alcoholism in women, by its clinical features and its course, is the source of therapeutic and economic stakes, particularly in young women among whom an increase of alcohol consumption related problems is reported. Another specificity of the female alcoholism is the lack of care seeking, whereas women have tendency globally to solicit more often care structures than men. Women represent only 1/4 of the overall treated alcoholic patients. The main explanation for this phenomenon is the pejorative social and moral connotation of the female alcoholism, with frequent feelings of shame and deep guilt, that also account for the frequency of hidden and lonely alcohol intakes. The female alcoholism is essentially characterized by an increased vulnerability to the toxic effects of the alcohol, whereas the pathological consumption starts later and with smaller daily amounts. Most studies have revealed a higher vulnerability in women to somatic complications directly attributable to the alcohol organs toxicity, such as hepatic cirrhosis and cardiovascular complications (high blood pressure, non obstructive cardiomyopathy). The reported brain morphological abnormalities could also occur more precociously in alcoholic women than in men. A decreased corpus callosum size among alcoholic women, but not in alcoholic men, was thus found in a recent study, compared with healthy controls. Among the different hypothesis proposed to explain this increased alcohol toxicity, the most incriminated is higher alcohol blood rates for the same ingested amount, mainly of the fact of a lower size with a weaker proportion of the bodily total water, but also of weaker concentrations of gastro-intestinal tract ADH, or of a longer metabolism during some menstrual phases. Indeed, some experimental studies on animal showed that the alcohol toxic effects may occur only from a threshold of alcohol blood rate. More recent studies suggest that the explanation to keep is more related to the lower gastric metabolism in women (lower ADH activity), than the difference of gastric volume or alcohol hepatic oxidation. Regarding to comorbidity, in the Epidemiologic Catchment Area survey, 65% of women, versus 44% of men, with abuse and/or dependence to alcohol had at least one another life-time psychiatric disorder (mainly depression and anxiety disorders), compared to 36% of the overall women of the studied sample. On the other hand, the alcohol dependence is, more often than in men, secondary to other psychiatric disorders, essentially depressive episodes, but less associated to antisocial behaviours. Among the different etiopathogenic factors involved in the alcohol dependence occurrence, genetic factors seem to have a determinant impact. According to the previous family, separation/adoption and twins studies performed, genetic factors could explain 50 to 60% of the alcoholism vulnerability in both men and women. In this context, and whereas we assist to the development of etiopathogenic models with new therapeutic perspectives in alcohol dependence, it seems necessary not to neglect female alcoholism specificities.
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PMID:[Clinical and biological specificities of female alcoholism]. 1250 62


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