Abstract:
:Familial hypobetalipoproteinemia (FHBL) is an monogenic co-dominant disorder characterized by reduced plasma levels of cholesterol, low density lipoproteins (LDL) and apolipoprotein B (apoB) often associated with non-alcoholic fatty liver disease (NAFLD). It has been suggested that FHBL might predispose to gallstone disease (GD). We report a hypocholesterolemic 10 year old girl with obstructive jaundice due to cholesterol stones in gallbladder and common bile duct which required cholecistectomy. The analysis of patient's plasma lipoproteins revealed a marked reduction of LDL and apoB, a lipid profile consistent with the clinical diagnosis of heterozygous FHBL. The same profile was found in her mother who had severe NAFLD. The analysis of apoB gene, the main candidate gene in FHBL, revealed that the patient and her mother were heterozygotes for a novel nonsense mutation (Y1220X) predicted to cause the formation of a short truncated apoB (apoB-26.87) not secreted into the plasma. The presence of cholesterol stones could result from increased biliary cholesterol secretion as a compensatory mechanism for the reduced capacity of the liver to export cholesterol incorporated into apoB-containing lipoproteins. FHBL should be considered as a possible predisposing factor for cholesterol gallstones in children (190).
journal_name
J Hepatoljournal_title
Journal of hepatologyauthors
Lancellotti S,Zaffanello M,Di Leo E,Costa L,Lonardo A,Tarugi Pdoi
10.1016/j.jhep.2005.03.012subject
Has Abstractpub_date
2005-07-01 00:00:00pages
188-91issue
1eissn
0168-8278issn
1600-0641pii
S0168-8278(05)00251-5journal_volume
43pub_type
杂志文章abstract:BACKGROUND & AIMS:SIRT1 is a class III histone deacetylase that plays diverse roles in various cancers. However, the clinical significance of SIRT1 in hepatocellular carcinoma (HCC) remains unknown. METHODS:We analysed p53 mutations and the activation of SIRT1 in 252 hepatitis B virus-positive HCC cases. None of the p...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/j.jhep.2014.08.007
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND/AIMS:Ascites in patients with cirrhosis is associated with worsening of systemic hemodynamics. Thus, the aim of this study was to investigate the biological activity of ascites on endothelial cells. METHODS:Human umbilical vein endothelial cells (HUVECs) were used to investigate the angiogenic activity of a...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/j.jhep.2005.01.035
更新日期:2005-07-01 00:00:00
abstract:BACKGROUND/AIMS:Severe alcoholic hepatitis occurs mainly in patients with cirrhosis, and has a high death rate. Corticosteroid therapy has been particularly advocated as reducing mortality in patients with severe histologic lesions. However, identification of these patients is difficult, requiring transvenous liver bio...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/s0168-8278(00)80391-8
更新日期:2000-03-01 00:00:00
abstract:BACKGROUND/AIMS:Cholesterol crystallization in a dilute, bile salt-rich model bile is a multiphase process in which early filamentous crystals gradually transform to classical cholesterol monohydrate plates. The pertinence of similar transformations in more complex model systems or native bile is, however, unclear. The...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/s0168-8278(97)80438-2
更新日期:1997-03-01 00:00:00
abstract:BACKGROUND & AIMS:Liver stiffness (LS) as measured by transient elastography [Fibroscan] offers a novel non-invasive approach to assess liver cirrhosis. Since Fibroscan seems to be unreliable in patients with congestive heart failure, it remains to be determined whether hemodynamic changes affect LS irrespective of fib...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/j.jhep.2009.11.018
更新日期:2010-02-01 00:00:00
abstract:BACKGROUND/AIMS:Pregnant women with acute viral hepatitis (VH) and those with pregnancy associated acute liver disease (PAALD) including acute fatty liver disease of pregnancy, hemolysis elevated liver enzyme and low platelet syndrome present with similar clinical features and liver tests abnormalities. Accurate differ...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/j.jhep.2008.07.030
更新日期:2008-12-01 00:00:00
abstract:BACKGROUND & AIMS:The accuracy of creatinine-based estimated GFR (eGFR) in assessing the prevalence of chronic kidney disease (CKD) and associated mortality after liver transplantation (LTx) is unknown. Using measured GFR (mGFR) by iothalamate clearance, we determined the prevalence of the entire spectrum of renal dysf...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/j.jhep.2014.03.034
更新日期:2014-08-01 00:00:00
abstract:BACKGROUND/AIMS:IgM antibodies to hepatitis C virus have been found in a variable proportion of patients with chronic hepatitis C. We have evaluated whether IgM anti-core antibodies correlate with viraemia or hepatic injury in chronic hepatitis C. METHODS:Serum from 106 patients with chronic hepatitis C with varying s...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/s0168-8278(96)80181-4
更新日期:1996-01-01 00:00:00
abstract:BACKGROUND & AIMS:To evaluate the efficacy and safety of telaprevir in combination with peginterferon-α2b (PEG-IFN) and ribavirin (RBV) in patients with chronic hepatitis C. METHODS:In a multi-center randomized clinical trial in Japan, on patients infected with HCV of genotype 1, 126 patients were assigned to telaprev...
journal_title:Journal of hepatology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1016/j.jhep.2011.07.016
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND & AIMS:Little is known about the frequency, phenotype and function of HBV-specific B cells during chronic infection. Here we study HBcAg and HBsAg-specific B cells in different clinical phases of a chronic HBV infection. METHODS:We included 118 treatment naïve and 34 nucleos(t)ide analogue-treated patients ...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/j.jhep.2020.01.024
更新日期:2020-07-01 00:00:00
abstract::The global scenario of hepatitis D is changing with the widespread implementation of vaccination against hepatitis B. In high-income countries that achieved optimal control of HBV, the epidemiology of hepatitis D is dual, consisting of an ageing cohort of domestic patients with advanced liver fibrosis who represent th...
journal_title:Journal of hepatology
pub_type: 杂志文章,评审
doi:10.1016/j.jhep.2021.01.014
更新日期:2021-01-20 00:00:00
abstract:BACKGROUND & AIMS:During chronic HCV infection, T cell dependent virus-specific antibodies are produced. However, the role of B-T cell interaction in chronic HCV is largely unknown. CD4(+)CXCR5(+) T follicular helper (TFH)-cells activate B cells and are important for clearance of various chronic viral infections. We in...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/j.jhep.2014.09.024
更新日期:2015-02-01 00:00:00
abstract::Human serum albumin (HSA) is one of the most frequent treatments in patients with decompensated cirrhosis. Prevention of paracentesis-induced circulatory dysfunction, prevention of type-1 HRS associated with bacterial infections, and treatment of type-1 hepatorenal syndrome are the main indications. In these indicatio...
journal_title:Journal of hepatology
pub_type: 杂志文章,评审
doi:10.1016/j.jhep.2014.04.012
更新日期:2014-08-01 00:00:00
abstract::Pulmonary concerns in liver transplant candidates have intraoperative and outcome implications. Evolving MELD exception policies address transplant priority for problems such as hepatopulmonary syndrome, portopulmonary hypertension, and hemorrhagic hereditary telangiectasia. Other pulmonary issues such as refractory h...
journal_title:Journal of hepatology
pub_type: 杂志文章,评审
doi:10.1016/j.jhep.2013.03.026
更新日期:2013-08-01 00:00:00
abstract:BACKGROUND & AIMS:Cholangiocarcinoma (CCA) carries a very poor prognosis due to a typically late clinical presentation and a poor response to current therapeutics. While these tumors commonly express PD-1 and PD-L1, the response to immune checkpoint inhibitors (ICI) is poor. Stimulating antigen-presenting cells includi...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/j.jhep.2020.11.037
更新日期:2020-12-01 00:00:00
abstract::Medical treatment of cirrhotic ascites is essentially supportive, dictated by the patient's discomfort, impaired cardiovascular or respiratory function and potential for infection. Treatment of 'simple' ascites (moderate fluid accumulation, serum albumin > 3.5 g/dl, serum creatinine < 1.5 mg/dl, no electrolyte disturb...
journal_title:Journal of hepatology
pub_type: 杂志文章,评审
doi:10.1016/s0168-8278(05)80447-7
更新日期:1993-01-01 00:00:00
abstract:BACKGROUND/AIMS:The ability to transfer foreign genes into the biliary tract would be useful for the treatment of biliary tract diseases, including cancer, cystic fibrosis and other genetic diseases. To introduce a foreign gene precisely into the rat biliary epithelial cells, we developed a new technique, inserting a p...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/s0168-8278(99)80137-8
更新日期:1999-05-01 00:00:00
abstract:BACKGROUND/AIMS:We evaluated the test performance profile (TPP) of blood tests of liver fibrosis. METHODS:Three hundred and fifty-six patients with C chronic hepatitis were included in two centers. Metavir staging of liver specimens by two independent pathologists and the following tests were evaluated: Fibrotest (FT)...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/j.jhep.2006.09.020
更新日期:2007-03-01 00:00:00
abstract:BACKGROUND & AIMS:Statins are widely used to treat hypercholesterolemia. Statins may prevent hepatocellular carcinoma (HCC), but have not yet been fully studied, particularly in patients at high risk. Therefore, we investigated the risk of HCC after statin use in the whole general population and evaluated the effects o...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/j.jhep.2017.10.018
更新日期:2018-03-01 00:00:00
abstract::Interferon-alpha therapy has a beneficial effect in 30-40% of selected patients with chronic hepatitis B who respond by clearing hepatitis B e antigen (HBeAg) and hepatitis B viral (HBV) DNA from serum. This is usually associated with normalization of serum aminotransferase activities. On long-term follow-up of treate...
journal_title:Journal of hepatology
pub_type: 杂志文章,评审
doi:
更新日期:1995-01-01 00:00:00
abstract:BACKGROUND/AIMS:Nephropathy associated with alpha1-antitrypsin deficiency is assumed to be an unusual entity. We describe the case of a 23-year-old woman with severe alpha1-antitrypsin (PiZ homozygosity) deficiency who developed hepatic cirrhosis in childhood, and glomerulonephritis and nephrotic syndrome in adult life...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/s0168-8278(97)80478-3
更新日期:1997-06-01 00:00:00
abstract:BACKGROUND & AIMS:Patients with chronic hepatitis C virus (HCV) infection and cirrhosis have a higher risk for liver-related complications and have historically been more difficult to cure than patients without cirrhosis. We evaluated the safety and efficacy of ombitasvir/paritaprevir/ritonavir and dasabuvir, without r...
journal_title:Journal of hepatology
pub_type: 临床试验,杂志文章
doi:10.1016/j.jhep.2015.10.005
更新日期:2016-02-01 00:00:00
abstract:BACKGROUND/AIMS:Currently the diagnosis and severity of hepatic steatosis can be established accurately only by liver biopsy. Previous small studies found that steatosis measured by magnetic resonance spectroscopy (MRS) and imaging (MRI) correlated with histological assessment of liver triglyceride content. However, th...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/j.jhep.2009.04.012
更新日期:2009-08-01 00:00:00
abstract:BACKGROUND/AIMS:Evidence that the geno/subtype of hepatitis C virus (HCV) is predictive of the response to interferon-alpha therapy suggests that typing methods are clinically useful. In the present study, HCV isolates obtained from 74 patients with chronic hepatitis C were used to evaluate three genotyping and two ser...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/s0168-8278(97)80108-0
更新日期:1997-05-01 00:00:00
abstract:BACKGROUND/AIMS:Hepatitis B virus (HBV) infection in extrahepatic tissues is controversial. To clarify whether episomal HBV can infect nonhepatic tissues, we investigated the molecular forms of HBV in the lymphatic cells of inactive HBV carriers who lacked viremia, thus avoiding contamination with HBV genomes originati...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/j.jhep.2005.01.016
更新日期:2005-06-01 00:00:00
abstract:BACKGROUND/AIM:The present in vivo study investigated the impact of a monoclonal antibody directed against the intercellular adhesion molecule-1 (ICAM-1) on initial microvascular reperfusion injury after liver transplantation. METHODS:Orthotopic, syngeneic liver transplantation including arterial reconstruction was pe...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/s0168-8278(00)80252-4
更新日期:2000-05-01 00:00:00
abstract:BACKGROUND/AIMS:The aim of this study was to identify human liver proteins that are associated with different stages of liver development. METHODS:We collected liver samples from 14 fetuses between 14 and 41 weeks of development, one child and four adults. Proteins which exhibited consistent and significant variations...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/j.jhep.2009.02.029
更新日期:2009-07-01 00:00:00
abstract:BACKGROUND/AIMS:A recently identified DNA virus, termed TT virus (TTV), has been associated with post-transfusional hepatitis, and a high prevalence of TTV infection in patients with acute or chronic liver disease of unknown etiology has been reported from Japan, but few data are available about TTV infection in other ...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/s0168-8278(99)80256-6
更新日期:1999-06-01 00:00:00
abstract:BACKGROUND/AIMS:The impact of dietary fatty acids on the development of cancers is highly controversial. We recently demonstrated that unsaturated fatty acids trigger the downregulation of the tumor suppressor PTEN through an mTOR/NF-kappaB-dependent mechanism in hepatocytes. In this study, we investigated whether unsa...
journal_title:Journal of hepatology
pub_type: 杂志文章
doi:10.1016/j.jhep.2009.01.027
更新日期:2009-06-01 00:00:00
abstract::The alterations of hepatobiliary transport that occur in cholestasis can be divided into primary defects, such as mutations of transporter genes or acquired dysfunctions of transport systems that cause defective canalicular or cholangiocellular secretion, and secondary defects, which result from biliary obstruction. T...
journal_title:Journal of hepatology
pub_type: 杂志文章,评审
doi:10.1016/s0168-8278(00)80411-0
更新日期:2000-01-01 00:00:00