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)

Hepatosplenic schistosomiasis is occasionally associated with cirrhosis and progressive hepatic decompensation. The aim of the present study was to determine the prevalence of antibody to hepatitis C virus in patients with schistosomiasis and cirrhosis. The prevalence of anti-HCV was studied in 12 consecutive cases of schistosomiasis associated with biopsy proven cirrhosis. All patients had a past history of schistosomiasis and high titers of schistosomal antibodies in serum (1:32 to 1:4096). Five of the 12 patients had hepatic catheterization and were found to have sinusoidal involvement with corrected sinusoidal pressures ranging from 19 to 23 mm Hg. Four had ascites, six had pedal edema, and eight had peripheral signs of chronic liver disease in the form of palmar erythema, spider nevi, and/or gynecomastia. Ten of the 12 cases (83%) were repeatedly positive for anti-HCV/ELISA. These results suggest that when patients with schistosomiasis develop cirrhosis, associated hepatitis C virus infection should be suspected.
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PMID:Anti-HCV-positive cirrhosis associated with schistosomiasis. 768 84

This is the case of a 55-year-old male with cirrhosis who required a LeVeen shunt for relief of refractory ascites. After eight months he developed recurrence of the ascites and a erythematous patch around the surgical scar. Skin biopsy revealed a proliferation of small and medium-sized vessels throughout the dermis. The acquired form of nevus flammeus is rare an is usually preceded by trauma. This is the report of a patient with an acquired nevus flammeus associated to an obstructed peritoneovenous shunt.
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PMID:Acquired nevus flammeus. 777 64

Alcohol-induced diseases of the liver, such as fatty liver, hepatitis and cirrhosis with the potential development of hepato-cellular carcinoma can cause many effects on the skin. Even though they are not caused by excessive alcohol alone, but also by other diseases of the liver or other diseases of internal organs, an experienced person will be able to carry out specific diagnostic procedures. Skin symptoms due to liver diseases include 1. Vascular changes, such as spider nevi, teleangiectasias and palmar erythema. 2. Nail changes, particularly white nails. 3. Changes of the mucous membranes, i.e. glossy tongue. 4. Changes due to altered hormones, particularly gyneco-mastia, female distribution of hair and testicular atrophy and 5. Changes in the color of the skin like icterus and melanosis cutis. Rarely pruritus and other diseases of the skin are seen, such as porphyria cutanea tarda, which is often caused by an altered liver function. In the final stages of alcoholism, the neglect of personal hygiene particularly of the skin is evident (cutis vagantium). Since the exact mechanism of the skin symptoms remains obscure, it is difficult to evaluate the significance. Most often they do not correlate with the severity of the liver disease.
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PMID:[Skin manifestations of alcoholic liver damage]. 1080 82

Chronic liver diseases are known to cause several skin manifestations, including cutaneous vascular changes such as spider naevus and palmar erythema. Arteriovenous haemangioma (AVH), a benign acquired cutaneous vascular lesion, has also been reported to be associated with chronic liver disease. We report here four cases of AVH in patients with chronic liver disease: (i) a 59-year-old man who had suffered from chronic active hepatitis associated with hepatitis C virus for 15 years; (ii) a 48-year-old man who had suffered from alcoholic hepatitis for 3 years and was diagnosed with liver cirrhosis 1 year ago; (iii) a 69-year-old female who had had chronic active hepatitis associated with hepatitis C virus infection for 20 years and was diagnosed with liver cirrhosis 7 years ago; and (iv) a 48-year-old man who had had chronic active hepatitis associated with hepatitis B virus infection for about 20 years. All patients showed an asymptomatic solitary dome-shaped reddish papule, 5-10 mm in diameter, on the face (first, second and third patients) or chest (fourth patient). Histopathological examination of the tumours revealed features of AVH, namely a well-circumscribed lesion composed of vascular structures of various sizes reminiscent of arteries and veins. In all four cases, elastic-van Gieson stain showed the absence of an internal elastic lamina in the thick-walled vessels as well as the thin-walled vessels. Examination of multiple sections demonstrated glomus cells and an ascending artery feeding the tumour vessels in only one case. Slight inflammatory cell infiltration was seen in the stroma of three patients while Toluidine blue staining revealed an increased number of mast cells in the stroma in all lesions. The present cases suggest that the occurrence of AVH associated with chronic liver disease is not related to any specific liver disease, but may be related to chronic liver dysfunction itself.
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PMID:Arteriovenous haemangioma in chronic liver disease: clinical and histopathological features of four cases. 1126 25

Keratins are the type I and II intermediate filament proteins which form a cytoskeletal network within all epithelial cells. They are expressed in pairs in a tissue- and differentiation-specific fashion. Epidermolysis bullosa simplex (EBS) was the first human disorder to be associated with keratin mutations. The abnormal keratin filament aggregates observed in basal cell keratinocytes of some EBS patients are composed of keratins K5 and K14. Dominant mutations in the genes encoding these proteins were shown to disrupt the keratin filament cytoskeleton resulting in cells that are less resilient and blister with mild physical trauma. Identification of mutations in other keratin genes soon followed with attention focussed on disorders showing abnormal clumping of keratin filaments in specific cells. For example, in bullous congenital ichthyosiform erythroderma, clumping of filaments in the suprabasal cells led to the identification of mutations in the suprabasal keratins, K1 and K10. Mutations have now been identified in 18 keratins, all of which produce a fragile cell phenotype. These include ichthyosis bullosa of Siemens (K2e), epidermolytic palmoplantar keratoderma (K1, K9), pachyonychia congenita (K6a, K6b, K16, K17), white sponge nevus (K4, K13), Meesmann's corneal dystrophy (K3, K12), cryptogenic cirrhosis (K8, K18) and monilethrix (hHb6, hHb1).In general, these disorders are inherited as autosomal dominant traits and the mutations act in a dominant-negative manner. Therefore, treatment in the form of gene therapy is difficult, as the mutant gene needs to be inactivated. Ways of achieving this are actively being studied. Reliable mutation detection methods from genomic DNA are now available. This enables rapid screening of patients for keratin mutations. For some of the more severe phenotypes, prenatal diagnosis may be requested and this can now be performed from chorionic villus samples at an early stage of the pregnancy. This review article describes the discovery of, to date, mutations in 18 keratin genes associated with inherited human diseases.
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PMID:The molecular genetics of keratin disorders. 1268 39

Glypican-3 (GPC3) mRNA and protein are expressed in >80% of human hepatocellular carcinomas (HCC) but not in normal tissues except for placenta and fetal liver. The oncofetal antigen GPC3 is a glycosylphosphatidyl inositol-anchored membrane protein and may be secreted. It is a novel tumor marker for human HCC: GPC3 protein was present in sera from 40-50% of HCC patients, but was not detected in sera from patients with liver cirrhosis or chronic hepatitis, or in sera from healthy individuals. alpha-Fetoprotein (AFP) and PIVKA-II (protein induced by vitamin K absence or antagonist-II), are well known major tumor markers for HCC. Generally, AFP shows high positivity for HCC but also high false-positivity in detection assays. Lens culinaris agglutinin-reactive fraction of alpha-fetoprotein (AFP-L3) is a recently described marker of HCC. Detection of AFP-L3 shows a much higher specificity than AFP, but a lower sensitivity. On the other hand, detection of PIVKA-II shows a lower false-positivity, but is not always sensitive enough to detect low levels secreted by small HCCs. There was no correlation between the three tumor markers, AFP, PIVKA-II, and GPC3 in terms of their presence in HCC cells. All three tumor markers showed similar positivity in patients with HCC, detecting 80% of patients with the disease. GPC3 is also a novel tumor marker for the diagnosis of human melanoma, especially in the early stages of the disease. Expression of GPC3 mRNA and protein was evident in tumor cells from >80% of patients with melanoma and melanocytic nevus, which is a common benign lesion. GPC3 protein was detected in sera from 40% (36/91) of melanoma patients, but not in sera from those with large congenital melanocytic nevus, or from healthy donors. Surprisingly, we detected serum GPC3 even in patients with stage 0, in situ melanoma. The positive detection rate of serum GPC3 at stage 0, I, and II (44.4%, 40.0%, 47.6%, respectively) was significantly higher than that of 5-S-cysteinyldopa, a well known tumor marker for melanoma (0.0%, 8.0%, and 10.0%, respectively). Interestingly, GPC3 was highly immunogenic in mice and elicited effective anti-tumor immunity with no evidence of autoimmunity. Thus, GPC3 is useful for diagnosis of HCC and melanoma and may also have a role in immunotherapy or tumor prevention. However, studies in humans are warranted.
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PMID:Usefulness of the novel oncofetal antigen glypican-3 for diagnosis of hepatocellular carcinoma and melanoma. 1580 27

Dieulafoy's lesion is a gastrointestinal submucosal artery that ruptures into the lumen causing massive hemorrhage. Until recently, failure to diagnose and treat patients endoscopically may have necessitated blind gastrectomy. Because arteriolar spider nevi abound in patients with liver disease and bleeding from such lesions has been described in the upper gastrointestinal tract, we reviewed our experience to determine whether a diagnosis of advanced liver disease could facilitate recognition and treatment of this type of arterial bleeding. Endoscopy records from 1991 to 1996 for all cases of upper gastrointestinal bleeding at our institution were reviewed. Dieulafoy's lesion-like bleeding was defined as arterial-type bleeding with no evidence of mucosal ulceration or erosions. Advanced liver disease was defined as signs of portal hypertension and/or cirrhosis or infiltrative liver disease. Dieulafoy's lesion-like bleeding was the cause in 6 of 4569 cases (0.13%). Five patients with Dieulafoy's lesion-like gastrointestinal hemorrhage had advanced liver disease compared with 954 of 4569 of all patients endoscoped for gastrointestinal hemorrhage for the period evaluated (OR = 19.04; 95% CI 2.1-900.8; p < 0.002 by Fisher's exact test). Dieulafoy's lesion-like bleeding was treated successfully with epinephrine injection and endoscopic cauterization in 5 of 6 patients with 1 patient requiring surgery. No other clinical associations were evident. Dieulafoy's lesion-like bleeding occurs more commonly in patients with advanced liver disease and should be included as a potential cause for bleeding in advanced liver disease and aggressively sought.
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PMID:Dieulafoy's lesion-like bleeding: an underrecognized cause of upper gastrointestinal hemorrhage in patients with advanced liver disease. 1723 96

Chronic liver disease is associated with several cutaneous manifestations. Although many of these changes are nonspecific, some are associated with distinct liver diseases and correlate with the severity of hepatic pathology. Often the first clue to a liver disease is manifested through skin. Although cirrhosis is associated with spider nevi and palmar erythema, disorders can result in noncirrhotic cutaneous manifestations. It is important for physicians to be familiar with the spectrum of these manifestations, to recognize, help detect, and treat the underlying hepatic disease. This article reviews the medical literature and discusses the spectrum of dermatologic manifestations of liver disorders and their pathogenesis, significance, and treatment.
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PMID:Dermatologic disorders and the liver. 2111 99

Klippel - Trenaunay syndrome (KTS) is characterized by a cutaneous vascular nevus of the involved extremity, bone and soft tissue hypertrophy of the extremity and venous malformations. We present a case of KTS with splenic hemangiomas and rectal varices. A 29-year-old woman was referred for intermittent hematochezia for several years. She had history with a number of operations for cutaneous and soft tissue hamangiomas since the age of one year old and for increased circumference of her left thigh during the last few months. Abdominal CT revealed multiple hemangiomas in the spleen, fusiform aneurysmal dilatation of the deep veins and soft tissue hemangiomas. There was no evidence of hepatosplenomegaly or liver cirrhosis. Colonoscopy revealed hemangiomatous involvement in the rectum. There were rectal varices without evidence of active bleeding. Upon venography of the left leg, we also found infiltrative dilated superficial veins in the subcutaneous tissue and aneurysmal dilatation of the deep veins. The patient was finally diagnosed with KTS, and treated with oral iron supplementation only, which has been tolerable to date. Intervention or surgery is not required. When gastrointestinal varices or hemangiomatous mucosal changes are detected in a young patient without definite underlying cause, KTS should be considered.
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PMID:[Involvement of splenic hemangioma and rectal varices in a patient with klippel: trenaunay syndrome]. 2196 Jan 5

Traditional Chinese medicine (TCM) syndrome is an important basis for TCM diagnosis and treatment. As Child-Pugh classification as well as compensation and decompensation phase in liver cirrhosis, it is also an underlying clinical classification. In this paper, we investigated the correlation between single nucleotide polymorphisms (SNPs) of Interleukin-10 (IL-10) and TCM syndromes in patients with hepatitis B cirrhosis (HBC). Samples were obtained from 343 HBC patients in China. Three SNPs of IL-10 (-592A/C, -819C/T, and -1082A/G) were detected with polymerase chain-reaction-ligase detection reaction (PCR-LDR). The result showed the SNP-819C/T was significantly correlated with Deficiency syndrome (P = 0.031), but none of the 3 loci showed correlation either with Child-Pugh classification and phase in HBC patients. The logistic regression analysis showed that the Excess syndrome was associated with dizzy and spider nevus, and the Deficiency syndrome was associated with dry eyes, aversion to cold, IL-10-819C/T loci, and IL-10-1082A/G loci. The odds ratio (OR) value at IL-10-819C/T was 4.022. The research results suggested that IL-10-819C/T locus (TC plus CC genotype) is probably a risk factor in the occurrence of Deficiency syndrome in HBC patients.
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PMID:Interleukin-10 genotype correlated to deficiency syndrome in hepatitis B cirrhosis. 2269 Feb 43


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