Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway that is characterized by accumulation of protoporphyrin in the blood, erythrocytes, and tissues, and cutaneous manifestations of photosensitivity, all resulting from abnormalities in ferrochelatase (FECH) activity due to mutations in the FECH gene. Protoporphyrin is excreted by the liver, and excess protoporphyrin leads to cholelithiasis with obstructive episodes and chronic liver disease, finally progressing to liver cirrhosis. Patients with end-stage EPP-associated liver disease require liver transplantation. We describe here a 31-year-old male patient with EPP who experienced acute-on-chronic liver failure and underwent deceased-donor liver transplantation. Surgical and postoperative care included specific shielding from exposure to ultraviolet radiation to prevent photosensitivity-associated adverse effects. The patient recovered uneventfully and was doing well 24 months after transplantation. Future prevention and treatment of liver disease are discussed in detail.
Acute Disease ; Adult ; End Stage Liver Disease/etiology/pathology/*therapy ; Ferrochelatase/genetics/metabolism ; Humans ; Liver Cirrhosis/diagnosis ; *Liver Transplantation ; Male ; Mutation ; Protoporphyria, Erythropoietic/complications/*diagnosis/pathology

Many studies have suggested that occult HBV infection has a substantial clinical relevance to hepatocellular carcinoma (HCC). Occult HBV infection is an important risk factor for the development of cirrhosis and HCC in patients without HBsAg. As a matter of fact, occult HBV infection is one of the most common causes of crytogenic HCC in endemic areas of HBV. However, there still are controversial issues about the association between occult HBV infection and HCC according to the underlying liver disease. In alcoholic cirrhosis, occult HBV infection may exert synergistic effect on the development of HCC. However, there is insufficient evidence to relate occult HBV infection to hepatocarcinogenesis in non-alcoholic fatty liver disease. In cryptogenic HCC, occult HBV infection may play a direct role in the development of HCC. In order to elucidate the assocciation between occult HBV infection and HCC, underlying liver disease must be specified and larger number of cases must be included in future studies.
Carcinoma, Hepatocellular/*complications/*diagnosis/epidemiology ; DNA, Viral/analysis ; Hepatitis/complications ; Hepatitis B/*complications/*diagnosis/epidemiology ; Hepatitis B virus/genetics ; Humans ; Liver Cirrhosis, Alcoholic/complications ; Liver Neoplasms/*complications/*diagnosis/epidemiology ; Risk Factors

Adult ; Female ; Humans ; Hypertension, Portal ; diagnosis ; etiology ; genetics ; Liver Cirrhosis ; complications ; diagnosis ; genetics ; Male ; Middle Aged ; Models, Statistical ; Nitric Oxide Synthase ; genetics ; Polymorphism, Genetic ; Prognosis ; Prospective Studies

A 42-yr-old man with hepatitis B virus associated liver cirrhosis was admitted to the emergency room because of multiple seizures, a history of chills and myalgia over the previous 2 weeks, and 3 days of melena. He was febrile with a temperature of 38.0degrees C. There were no symptoms and signs related to the genitourinary system, skin, or joints. Three sets of blood cultures were obtained and oxidase-positive, gram-negative diplococci were detected after 25.9-26.9 hr of incubation in all aerobic vials. The organism was positive for catalase and oxidase, and was identified as Neisseria gonorrhoeae, using a Vitek Neisseria-Haemophilus Identification card (bioMerieux Vitek, Inc., USA). Further, 16S rRNA sequencing of this isolate revealed a 99.9% homology with the published sequence of N. gonorrhoeae strain NCTC 83785 (GenBank Accession No. NR_026079.1). Acute bleeding by variceal rupture seems to be a likely route of introduction of N. gonorrhoeae from the mucosa into the blood. To the best of our knowledge, this is the first case of gonococcal bacteremia in Korea.
Adult ; Bacteremia/complications/*diagnosis/microbiology ; Catalase/metabolism ; Esophageal and Gastric Varices/complications/*diagnosis ; Gastrointestinal Hemorrhage/*etiology ; Gonorrhea/complications/*diagnosis/microbiology ; Humans ; Ligation ; Liver Cirrhosis/diagnosis ; Male ; Neisseria gonorrhoeae/genetics/*isolation & purification ; Oxidoreductases/metabolism ; RNA, Ribosomal, 16S/chemistry/genetics ; Sequence Analysis, DNA

BACKGROUND/AIMS: Epigenetic silencing of DNA repair genes, O6-methylguanine-DNA methyltransferase (MGMT), hMLH1 and hMSH3, by promoter hypermethylation have been observed in various cancers. However, the relationship between hypermethylation of DNA mismatch repair genes and microsatellite instability (MSI) has not been studied in hepatocellular carcinoma (HCC) associated with cirrhosis. METHODS: We investigated the methylation pattern of CpG islands of 3 genes using methylation-specific PCR (MSP) and MSI in 40 patients with paired hepatocellular carcinoma and associated cirrhosis. RESULTS: hMSH3 and MGMT were the most methylated genes in both cirrhosis (70% and 68%, respectively) and HCC (75% and 73%, respectively). The methylation of hMLH1 was rarely found in both cirrhosis (8%) and HCC (5%). Gene promoters methylated in cirrhosis were also methylated in HCC with the exception of 9 cases found to be methylated either in cirrhosis or HCC. Of 40 cases of HCC associated with cirrhosis, three had MSI-positive phenotype in which two were MSI-low and one was MSI-high. One MSI-positive phenotype was present both in cirrhosis and in HCC, while two were only in HCC. There was no significant correlation between aberrant DNA methylation of mismatch repair genes and MSI status in HCC associated with cirrhosis. Immunohistochemical expressions of hMLH1, MGMT, and hMSH3 proteins were present in 16 (40%), 6 (15%), and 11 (28%) of 40 cases of HCC respectively. There was no significant correlaton between the aberrant DNA methylation of mismatch repair genes and clinical characteristics such as histological differentiation, postoperative recurrence and mortality. CONCLUSIONS: The methylation of MGMT and hMSH3 among DNA repair genes are frequent, but those of hMLH1 and MSI is very rare in both cirrhosis and HCC. There is no significant correlation between the methylation of DNA repair genes and clinical characteristics of HCC.
Adaptor Proteins, Signal Transducing/genetics ; Adult ; Aged ; Carcinoma, Hepatocellular/complications/diagnosis/*genetics ; *DNA Methylation ; DNA Modification Methylases/genetics ; *DNA Repair ; DNA Repair Enzymes/*genetics ; DNA-Binding Proteins/genetics ; Female ; Humans ; Liver Cirrhosis/complications/diagnosis/*genetics ; Liver Neoplasms/complications/diagnosis/*genetics ; Male ; *Microsatellite Instability ; Middle Aged ; Nuclear Proteins/genetics ; Tumor Suppressor Proteins/genetics

OBJECTIVETo study the relationship between serum HBV DNA levels and hepatic fibrosis markers in chronic hepatitis B.

METHODSOne hundred and fifty-seven patients with chronic hepatitis B were included in the study, 49 patients among them were diagnosed as early cirrhosis by liver biopsy. Serum HBV DNA levels were determined using fluorescent quantitative PCR, and serum hepatic fibrosis markers including hyaluronic acid (HA), laminin (LN), amino terminal propeptide of type III precollagen (P III P) and type IV collagen (IV-C) were determined by radioimmunity assay. The relationship between serum HBV DNA levels and hepatic fibrosis markers were analyzed. Serum HBV DNA levels and hepatic fibrosis markers of 49 patients with early cirrhosis were compared with those of 108 non-cirrhotic patients.

RESULTSThere was no significant relationship between serum HBV DNA levels and hepatic fibrosis markers in chronic hepatitis B (P>0.05). Patients with early cirrhosis had much higher hepatic fibrosis markers together with lower HBV DNA levels than non-cirrhotic patients (P<0.05).

CONCLUSIONSThere were no significant relationship between serum HBV DNA levels and hepatic fibrosis markers in patients with chronic hepatitis B.

Adult ; Biomarkers ; analysis ; DNA, Viral ; blood ; Female ; Hepatitis B virus ; genetics ; isolation & purification ; Hepatitis B, Chronic ; complications ; virology ; Humans ; Liver Cirrhosis ; diagnosis ; virology ; Male ; Middle Aged

BACKGROUND/AIMS: Alcohol and the hepatitis B virus (HBV) exert synergistic effects in hepatocelluar carcinogenesis. We aimed to elucidate the clinical significance of the antibody to hepatitis B core antigen (anti-HBc) and occult HBV infection on the development of hepatocellular carcinoma (HCC) in patients with alcoholic liver cirrhosis (LC). METHODS: Patients with alcoholic LC alone (n=193) or combined with HCC (n=36), who did not have HBsAg or antibody to hepatitis C virus were enrolled. Clinical data and laboratory data including anti-HBc were investigated at enrollment. The polymerase chain reaction was applied to HBV DNA using sera of patients with HCC or LC after age and sex matching. RESULTS: Patients with HCC were older (60+/-11 years vs. 53+/-10 years, mean+/-SD, P<0.001), more likely to be male (100% vs. 89%, P=0.03), and had a higher positive rate of anti-HBc (91.2% vs. 77.3%, P=0.067), and a higher alcohol intake (739+/-448 kg vs. 603+/-409 kg, P=0.076) than those with LC. Age was the only significant risk factor for HCC revealed by multiple logistic regression analysis (odds ratio, 1.056; P=0.003). The positive rate of anti-HBc and alcohol intake did not differ in age- and sex-matched subjects between the LC (n=32) and HCC (n=31) groups. However, the detection rate of serum HBV DNA was higher in the HCC group (48.4%) than in the LC group (0%, P<0.001). CONCLUSIONS: Anti-HBc positivity is not a risk factor for HCC. However, occult HBV infection may be a risk factor for HCC in patients with alcoholic LC.
Adult ; Aged ; Antibodies, Viral/blood ; Carcinoma, Hepatocellular/diagnosis/epidemiology/*etiology ; DNA, Viral/analysis ; Female ; Hepatitis B/*complications/diagnosis ; Hepatitis B Core Antigens/*immunology ; Hepatitis B Surface Antigens/immunology ; Hepatitis B virus/genetics/immunology/isolation & purification ; Hepatitis C/complications/diagnosis ; Humans ; Liver Cirrhosis, Alcoholic/*complications/diagnosis/epidemiology ; Liver Neoplasms/diagnosis/epidemiology/*etiology ; Male ; Middle Aged ; Risk Factors

Atopobium rimae, previously Lactobacillus rimae, is a strictly anaerobic, non-spore forming grampositive rod which was frequently isolated from odontogenic infection. We report a case of A. rimae bacteremia. A 47-yr-old man with liver cirrhosis was admitted to the hospital via emergency room due to fever and chill. His abdominal and pelvic computed tomography revealed a small abscess near the left adrenal gland. Three sets of blood cultures were taken and non-spore forming, grampositive rods were detected in all anaerobic vials. This isolate grew small nonhemolytic, gray-white translucent colonies on Brucella blood agar and was obligatory anaerobic on air-tolerance test. This organism was negative for catalase, indole, nitrate-reduction and beta-lactamase and failed to identify by Vitek ANI card (bioMerieux, France). 16S rRNA sequences of this showed 99.8% homology of the published sequence of A. rimae (GenBank accession number AF292371). Aspirates of periadrenal abscess grew Escherichia coli and Peptostreptococcus micros. He was treated with metronidazole and imipenem and follow-up cultures of blood were negative at days 4 and 10. To our knowledge, this is the first report of bacteremia of A. rimae.
*Actinobacteria/classification/genetics/isolation & purification ; Bacteremia/diagnosis/*microbiology/therapy ; Gram-Positive Bacterial Infections/diagnosis/*microbiology/therapy ; Humans ; Liver Cirrhosis/*complications ; Male ; Middle Aged ; Phylogeny ; RNA, Ribosomal, 16S/analysis ; Sequence Analysis, RNA

OBJECTIVETo investigate the infection of Helicobacter pylori (Hp) in the liver tissue of patients with chronic liver disease and the association between Hp and chronic liver disease.

METHODSLiver tissue samples were obtained by liver biopsy and surgical resection from 30 healthy subjects, 30 patients with chronic hepatitis, 30 with cirrhosis and 30 with liver cancer. All the samples were confirmed by pathological examination. The gene fragment coding for 16SrRNA were amplified by PCR with sequence analysis.

RESULTSThe PCR product of the 16SrRNA gene was 109 bp in length. Hp 16SrRNA was detected in 18 out of 30 liver biopsy samples from patients with primary cancer (60.0%), in 14 samples from patients with liver cirrhosis (47.0%), and in none of the samples from normal subjects or patients with chronic hepatitis. Sequencing analysis of Hp 16SrRNA gene in the liver tissue showed a 98.8% homology with the gene fragment encoding Hp 16SrRNA.

CONCLUSIONHp is identified in the liver tissue of patients with chronic liver disease, suggesting the possible correlation between Hp infection and hepatocellular carcinoma.

Adult ; Aged ; Base Sequence ; Female ; Helicobacter Infections ; complications ; diagnosis ; microbiology ; Helicobacter pylori ; genetics ; isolation & purification ; Hepatitis, Chronic ; complications ; microbiology ; Humans ; Liver Cirrhosis ; complications ; microbiology ; Liver Neoplasms ; complications ; microbiology ; Male ; Middle Aged ; Molecular Sequence Data ; RNA, Bacterial ; analysis ; RNA, Ribosomal, 16S ; analysis ; Young Adult

BACKGROUND/AIMS: There is some controversy regarding whether or not hepatitis C virus (HCV) subtype 1b is more influential than non-1b subtypes on the progression of chronic hepatitis (CH) C to liver cirrhosis (LC) and hepatocellular carcinoma (HCC). METHODS: We retrospectively analyzed 823 patients with chronic HCV infection, including 443 CH patients, 264 LC patients, and 116 HCC patients, who were HCV RNA positive and HBsAg negative. These patients had not received any prior treatment with either interferon alone or a combination of interferon and ribavirin. RESULTS: HCV subtypes 1b (51.6%) and 2a/2c (39.5%) were the two most common genotypes. The proportions of genotypes 2 (2a/2c, 2b, and 2) and 3 were 45.8% and 1.1%, respectively. One case of genotype 4 was found. HCV subtype 1b (47.3%) was less common than the non-1b subtypes (52.7%) in non-LC patients, but its proportion (56.9%) was higher than that of non-1b subtypes (43.1%) in LC patients (P=0.006). The proportions of patients with HCV subtype 1b did not differ significantly between the LC (55.3%) and HCC (60.3%) groups. Older age, male gender, and the relative progression of liver damage (non-LC vs. compensated LC vs. decompensated LC) were significant risk factors for HCC, with odds ratios of 1.081 (95% confidence interval [CI], 1.056-1.106), 5.749 (95% CI, 3.329-9.930), and 2.895 (95% CI, 2.183-3.840), respectively. HCV subtype 1b was not a significant risk factor for HCC (odds ratio, 1.423; 95% CI, 0.895-2.262). CONCLUSIONS: HCV subtypes 1b and 2a/2c were the two most common HCV genotypes. HCV subtype 1b seemed to be more influential than non-1b subtypes on the progression of CH to LC, but not on the development of HCC from LC.
Adult ; Age Factors ; Aged ; Carcinoma, Hepatocellular/diagnosis/etiology ; Female ; Genotype ; Hepacivirus/genetics ; Hepatitis C, Chronic/complications/*diagnosis/pathology ; Humans ; Liver Cirrhosis/diagnosis/etiology ; Liver Neoplasms/diagnosis/etiology ; Male ; Middle Aged ; Odds Ratio ; Republic of Korea ; Retrospective Studies ; Risk Factors ; Severity of Illness Index ; Sex Factors