Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hepatitis C virus (HCV) is considered the most common etiology of chronic liver disease (CLD) in Egypt, where prevalence of antibodies to HCV (anti-HCV) is approximately 10-fold greater than in the United States and Europe. Reported are results that show the role of HCV in both overt and occult CLD, the risk factors for CLD and for HCV infection, and the relative importance of chronic HCV, hepatitis B, or both in causing hepatic morbidity. Case patients included 237 new outpatients at the National Liver Institute. Controls comprised 212 sex- and age-matched neighbors without liver disease. Case patients were more likely than controls to report a history of blood transfusions, schistosomiasis, or parenteral therapy for schistosomiasis; to have anti-HCV, HCV RNA, hepatitis B surface antigen, and serum alanine aminotransferase (ALT) elevations; and to have abdominal ultrasound findings of cirrhosis, portal hypertension, and splenomegaly. Anti-HCV-positive case patients were more likely than anti-HCV-negative patients to be male, older, and farmers: to have received a blood transfusion or parenteral therapy for schistosomiasis; to have ALT elevations; and to have ultrasound findings of cirrhosis, portal hypertension, and spleen enlargement. Anti-HCV-positive controls were more likely than anti-HCV-negative controls to have received parenteral therapy for schistosomiasis. These data support the belief that HCV is the predominant cause of CLD in Egypt and suggest there is a large underlying reservoir of HCV-caused liver disease.
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PMID:Role of hepatitis C infection in chronic liver disease in Egypt. 1245

Neonatal lupus erythematosus (NLE) is an autoimmune disease characterized primarily by transient skin lesions and/or permanent congenital heart block. Other clinical findings include self-limited cytopenias and liver disease. The syndrome results from the passive transfer of maternal anti-SSA, anti-SSB, or anti-U1RNP autoantibodies to the fetus across the placenta. The cutaneous manifestations are generally analogous to those of subacute cutaneous lupus erythematosus (SCLE) and consist of small, erythematous macules that progress to annular plaques with delicate scaling. The skin lesions usually resolve within the first 6 months of life as maternal autoantibodies are cleared from the infant's circulation. We describe a patient with cutaneous NLE with hepatic and hematologic manifestations. The clinical presentation was atypical, with splenomegaly and petechiae at birth followed by a crusting, papulosquamous skin eruption of the scalp and face mimicking Langerhans cell histiocytosis (LCH).
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PMID:Neonatal lupus erythematosus mimicking langerhans cell histiocytosis. 1265 18

The role of preoperative stress single-photon emission computed tomographic (SPECT) imaging in patients with end-stage liver disease who underwent liver transplantation is not well established. We reviewed medical records of patients who had liver transplantation at our institution between January 1998 and November 2001. During this time, 339 patients (213 men, aged 51 +/- 11 years) underwent liver transplantation. Of these, 87 patients had preoperative stress SPECT imaging. Diabetes mellitus (30% vs 11%), hypertension (26% vs 12%), and coronary artery disease (15% vs 7%) were more prevalent in those with than without SPECT (p <0.01 each). The stress SPECT perfusion images were normal in 78 patients (91%) and the left ventricular ejection fraction was 72 +/- 10%. SPECT images revealed ascites in 66% and splenomegaly in 83% of patients. There were 35 total deaths (10%) and 5 nonfatal myocardial infarctions over a mean follow-up of 21 +/- 13 months. Most deaths (32 of 35) were noncardiac and sepsis was the most common cause of death. A normal SPECT study had a 99% negative predictive value for perioperative cardiac events. Kaplan-Meier survival curves showed an 87% 2-year cumulative survival rate in the total group. Thus, in patients undergoing liver transplantation, 2-year survival depends on early noncardiac events. A normal stress SPECT study identified patients at a very low risk for early and late cardiac events despite a higher risk profile. SPECT images also revealed unique findings, such as ascites and splenomegaly, which could produce image artifacts and may interfere with accurate image interpretation.
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PMID:Usefulness of preoperative stress perfusion imaging in predicting prognosis after liver transplantation. 1458 57

A parasitological survey of stool and urine of 2577 from 3281 individuals living in Abis villages, Alexandria was undertaken in 1998 in order to investigate the prevalence of schistosomiasis in this area and risk factors for hepatic morbidity. A random sample of 1082 individuals was interviewed using a questionnaire regarding risk factors for liver morbidity. All interviewed adults (total: 728) were clinically examined for evidence of organomegally (hepatomegally and/or splenomegally). Individuals with clinically detected organomegally were referred for detailed investigations (total: 65). The criteria for severe hepatic morbidity were AST/ALT ratio higher than 1, prothrombin activity < 70%, and evidence of portal hypertension. The results revealed that prevalence of S. mansoni accounted for 20.5%, with low intensity of infection and increased with age to reach a maximum of 40-46.3% at 15-30 years of age. Intensity of infection followed the same pattern. All tested urine samples were negative for S. haemato-bium. The prevalence of clinically detected organomegally was 10.3% among adults (75/728). Significant risk factors for developing organomegally were age > or = 35 years (2.2 folds), farming occupation (1.7 fold), history of parenteral anti-schisto-somal treatment (PAT) with or without tablets (2.03 folds), and heavy water canal exposure (2.85 folds). Detailed morbidity study on 65 individuals with clinically detected organomegally showed that 52.3% reported heavy score for water canal exposure, 33.8% were positive for HCV antibodies, and 7.7% for HBV antibodies. Procollagen level was higher than 5.5 microg/l in 26.2% of this group. The results of Doppler ultrasonography showed that 33.3% recorded a portal vein diameter > or = 13 mm, 26.2% periportal fibrosis more than grade 2 (> 5 mm), 19% hepatofugal direction of portal blood flow, 30.2% collaterals, 28.6% splenomegaly, and 17.5% hepatofugal direction of splenic blood flow. The burden of severe hepatic morbidity was alarming among this group: 33.8% with portal hypertension, 24.6% with prothrombin activity < 70, and 13.8% with AST/ALT ratio > 1. There was a 4.44 and 3.7 fold increased risk for portal hypertension with elevated levels of PIIIP and positive serologic tests for HCV and/or HBV infections, respectively. Similarly, a 4.58 and 18.35 fold increased risk for AST/ALT more than one was attributed to these two factors, respectively. Elevated procollagen level was significantly associated with viral infection (HCV and/or HbsAG). Seropositivity for HCV antibodies was found strikingly high in adults above 35 years (positive HCV antibodies in 45.9% of individuals). This indicates a high level of endemicity in the study area which is also endemic for S. mansoni. So, a heavy burden of severe liver disease exist in rural Alexandria is attributed to combined infection of S. mansoni and hepatitis viruses. This emphasizes the need for intervenetion strategies targeting these two main liver offenders.
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PMID:Morbidity of schistosomiasis mansoni in rural Alexandria, Egypt. 1470 47

Increase in portal venous pressure after anatomical or functional obstruction of portal venous system represents the most important complication of liver cirrhosis. Important sequels of portal hypertension are not dependable of etiology of liver disease. They are: increased collateral circulation in portal system and low pressure venous system (esophageal and gastric varices, portal hypertensive gastropathy and colopathy, hemorrhoids, collateral circulation through anterior abdominal wall, increased lymphatic flow, ascites, splenomegaly with occasional hypersplenismus, hepatic encephalopathy, hepatorenal syndrome.
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PMID:[Complications of liver cirrhosis]. 1513 48

The aim of the study was to identify moderate liver impairment in a group of hyperbilirubinaemic adolescents. Using gas chromatography we assessed both total bile acid and primary bile acid levels in 50 adolescents with juvenile hyperbilirubinaemia. At the same time we performed hepatologic examinations and subsequent follow-up assessment of these patients for a period of at least 2 years. As a control group we examined 30 adolescents without any impairment of both the liver and gastrointestinal tract, and 18 patients with low grade (moderately) active chronic hepatitis. In both groups we assessed total and primary bile acids levels as well as conventional liver tests (bilirubin, ALT, AST). On the basis of the clinical course and laboratory findings we divided our patients with juvenile hyperbilirubinaemia into two groups: a group of individuals with Gilbert's syndrome (30 patients) and a group of individuals with probable moderate liver impairment (20 patients). The latter group consisted of the adolescents who exhibited bilirubinaemia over 90 micromol/l and/or exhibited hepatomegaly or splenomegaly proved by the ultrasound examination and/or exhibited intermittent elevation of the liver aminotransferases serum levels. In the group of individuals with moderate liver impairment serum total bile acid levels were significantly elevated in 26% of patients, and the serum cholic acid level was significantly elevated in 25% of patients. These two parameters mutually correlated at a high level of significance. Juvenile hyperbilirubinaemia is one of the common conditions of adolescent age. Its etiology is diverse; it includes both benign conditions like Gilbert's syndrome and post-hepatitic and toxic conditions that require a long-term regimen and follow-up examinations. The number of people suffering from juvenile hyperbilirubinaemia has been growing in the population. Currently 4-6% of the adolescent population suffers from this disease. This growing number is probably caused by external factors of our environment (infection, toxic effects). The determination of mild liver disease in hyperbilirubinaemic patients and the provision of an adequate regimen of exercise and adequate nutritional measures is of great importance for the health of the adolescent population.
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PMID:Importance of serum bile acids determination in adolescents with juvenile hyperbilirubinaemia. 1524 29

A 40-year-old viremic woman with HBV related liver cirrhosis (Child-Plugh - C) received 100 mg lamivudine daily for 24 months. Initially the patient was with hepato-splenomegaly, marked ascites and mild jaundice. There were no signs of portal encephalopaty and gastrointestinal haemorrhage. The baseline ALT was about 6 times above the upper limit of normal. Hypoalbuminemia of 29 g/l as well as hyperbilirubinemia of 40 mmol/L and decreased protrombin index of 47% was found. Serological tests showed positive serum HBsAg and anti-HBe antibodies. The patient was HBeAg negative, but with detectable serum HBV DNA (500 pg/mL) by dot-blot hybridization HDV, HCV and HIV co-infections were excluded. A marked improvement in liver function had been found at the end of the third month of therapy, with normalization of bilirubin and ALT activity. Serum albumin and protrombine index increased from 29 g/l to 36 g/l and from 47% to 92%, respectively. The patient was without ascites and Child-Plough score decreased from 10 to 5 points. Serum HBV DNA rapidly decreased at the end of first treatment month and was undetectable three months after the initiation of lamivudine therapy. We found two viremic episodes during the lamivudine treatment. However, Child-Pugh score did not increased and the patient remained with compensated liver disease and with lower ALT than baseline value. The main question is haw long such patients have to receive the lamivudine treatment.
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PMID:Lamivudine induced stable reversal in HBV liver cirrhosis Child C: a case report. 1524 96

Treatment with contaminated plasma products before 1990 resulted in extraordinary prevalence rates of human immunodeficiency virus (HIV) and hepatitis B and C viruses (HBV, HCV). In the Second Multicentre Haemophilia Cohort Study (MHCS-II) during 2001-03, 30% of HCV-seropositive survivors had HIV and 4.6% were HBV carriers. Highly active antiretroviral therapy (HAART) radically altered the consequences of HIV/HCV coinfection. Whereas opportunistic infections predominated previously, current major complications are liver failure and bleeding (exacerbated by decreased clotting factor synthesis, hypersplenic thrombocytopenia, and oesophageal varices). Most HIV-positives in MHCS-II were HIV RNA-negative and had > 200 CD4(+) cells microL(-1), but only 59% were on HAART. With HIV, especially after 41 years of age, liver disease was apparent (jaundice in 5%, ascites 7%, hepatomegaly 9%, splenomegaly 19%). HAART increases survival but may contribute to various comorbidities. Without HIV, sustained HCV clearance is obtained in > 50% with combined pegylated interferons plus ribavirin, but data in haemophilic populations, especially with HIV, are limited. In MHCS-II, HCV RNA negativity was 41% following standard interferon plus ribavirin; among interferon-naive participants (implying spontaneous HCV clearance), HCV RNA negativity was 12% with and 25% without HIV. Without HIV, spontaneous HCV clearance was much more likely with early age at infection and particularly with recent birth (late 1970s or early 1980s) but not with bleeding propensity or its treatment. Most (72%) participants had received no anti-HCV therapy. Hepatic and haematological conditions are likely to increase during the coming years unless most adult haemophiliacs are successfully treated for HIV, HCV or both.
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PMID:Human immunodeficiency and hepatitis virus infections and their associated conditions and treatments among people with haemophilia. 1547 99

Fibropolycystic liver disease encompasses a spectrum of related lesions of the liver and biliary tract that are caused by abnormal embryologic development of the ductal plates. These lesions (congenital hepatic fibrosis, biliary hamartomas, autosomal dominant polycystic disease, Caroli disease, choledochal cysts) can be clinically silent or can cause signs and symptoms such as cholangitis, portal hypertension, gastrointestinal bleeding, infections, and space-occupying masses. The different types of fibropolycystic liver disease demonstrate characteristic findings at computed tomography (CT) and magnetic resonance (MR) imaging. Patients with congenital hepatic fibrosis typically have imaging evidence of liver morphologic abnormalities, varices, splenomegaly, renal lesions, and other associated ductal plate abnormalities. Biliary hamartomas usually manifest as multiple cysts that are nearly uniform in size and measure up to 15 mm in diameter. Autosomal dominant polycystic disease typically manifests as an enlarged and diffusely cystic liver. In Caroli disease, cystic or fusiform dilatation of the intrahepatic ducts is seen, as well as the "central dot sign," which corresponds to a portal vein branch protruding into the lumen of a dilated bile duct. Choledochal cyst manifests as a fusiform or cystic dilatation of the extrahepatic bile duct. Awareness of these CT and MR imaging features is essential in detecting and differentiating between various fibropolycystic liver diseases and can assist in proper management.
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PMID:Fibropolycystic liver disease: CT and MR imaging findings. 1588 16

New metabolic diseases are regularly identified by a genetic or biochemical approach. Indeed, the metabolic diseases result from an enzymatic block with accumulation of a metabolite upstream to the block and deficit of a metabolite downstream. The characterization of these abnormal metabolites by MRI spectroscopy permitted to identify the deficient enzyme in two new groups of diseases, creatine deficiencies and polyol anomalies. Creatine deficiency is implicated in unspecific mental retardation. A low peak of creatine at MRI spectroscopy is evocating of creatine deficiency which is treatable by creatine administration. Deficiency of synthesis of polyols, metabolites on the pentose pathway, represent new described metabolic diseases with variable symptoms including a neurological distress, liver disease, splenomegaly, cutis laxa and renal insufficiency. The deficit of ribose-5-phosphate isomerase, one of the enzymes whose diagnosis is evoked in front of the accumulation of ribitol, arabitol and xylitol leads to a leucodystrophy in adults. This new deficit was highlighted by the identification of an abnormal peak in cerebral MRI-spectroscopy corresponding to the abnormal accumulation of polyols in brain. Congenital hyperinsulinism (HI) is characterized by profound hypoglycaemia related to inappropriate insulin secretion. Focal and diffuse forms of hyperinsulinism share a similar clinical presentation but their treatment is dramatically different. Until recently, preoperative differential diagnosis was based on pancreatic venous sampling, an invasive and technically demanding technique. Positron emission tomography (PET) after injection of [18F]Fluoro-L-DOPA has been evaluated for the preoperative differentiation between focal and diffuse HI, by imaging uptake of radiotracer and the conversion of [18F]Fluoro-L-DOPA into dopamine by DOPA decarboxylase. PET with [18F]Fluoro-L-DOPA has been validated as a reliable test to differentiate diffuse and focal HI and is now a major differential diagnosis tool in infantile hyperinsulinemic hypoglycaemia.
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PMID:[Radiological innovations in the screening and diagnosis of the inborn errors of metabolism]. 1627 50


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