Fabry disease: a rare disorder calling for personalized medicine.

Fabry Disease (FD) is a genetic disease caused by a deficiency in the activity of lysosomal galactosidase A (α-GalA), an enzyme responsible for the catabolism of globotriaosylceramide (Gb3). Since lysosomes are present throughout the body and play a crucial role in catabolism and recycling of cytosolic compounds, FD can affect multiple organs and result in various symptoms, including renal, cardiovascular, neurological, cutaneous, and ophthalmic manifestations. Due to the nonspecific symptoms and the rarity of FD, it is often diagnosed late in life.

The current and future burden of hepatitis B in Switzerland: a modelling study.

Background And Aims: Chronic hepatitis B infection (defined as sustained detection of hepatitis B virus [HBV] surface antigen [HBsAg] protein in serum) is a leading cause of cirrhosis, hepatocellular carcinoma and liver-related deaths. A situation analysis carried out by the Swiss Federal Office of Public Health estimated the HBsAg prevalence in Switzerland to be 0.53% (95% CI: 0.

Frequent detection of functional hyposplenism via assessment of pitted erythrocytes in patients with advanced liver cirrhosis.

Background: Asplenia or functional hyposplenism are risk factors for severe infections, and vaccinations against encapsulated bacteria are advised. There are only limited data regarding the spleen function of cirrhotic patients.

Methods: We evaluated spleen function in patients with liver cirrhosis, who were prospectively enrolled in this study.

When and how to use direct oral anticoagulants in patients with advanced chronic liver disease?

Direct oral anticoagulants (DOACs) emerged as effective and safe alternatives to traditional anticoagulants for the prevention and treatment of venous thromboembolic disease and the prevention of stroke in non-valvular atrial fibrillation. Patients with advanced chronic liver disease (ACLD) have a higher risk of thromboembolism and bleeding than patients with normal liver function. Therefore, anticoagulation and, in particular, direct oral anticoagulants play a central role.

Cardiovascular magnetic resonance demonstrates structural cardiac changes following transjugular intrahepatic portosystemic shunt.

Transjugular intrahepatic portosystemic shunt (TIPS) reduces portal hypertension in patients with liver cirrhosis. The exact cardiac consequences of subsequent increase of central blood volume are unknown. Cardiovascular magnetic resonance (CMR) imaging is the method of choice for quantifying cardiac volumes and ventricular function.

Characterization of the immune cell landscape of patients with NAFLD.

Multiple factors are involved in the pathogenesis of non-alcoholic fatty liver disease (NAFLD), but the exact immunological mechanisms that cause inflammation and fibrosis of the liver remain enigmatic. In this current study, cellular samples of a cohort of NAFLD patients (peripheral blood mononuclear cells (PBMC): n = 27, liver samples: n = 15) and healthy individuals (PBMC: n = 26, liver samples: n = 3) were analyzed using 16-color flow cytometry, and the frequency and phenotype of 23 immune cell subtypes was assessed. PBMC of NAFLD patients showed decreased frequencies of total CD3+, CD8+ T cells, CD56dim NK cells and MAIT cells, but elevated frequencies of CD4+ T cells and Th2 cells compared to healthy controls.

Live donor liver transplantation with older donors: Increased long-term graft loss due to HCV recurrence.

Using our prospectively collected database all adult hepatitis C virus (HCV)-positive patients receiving an adult-to-adult LDLT between October 2000 and May 2014 were identified. Outcome of LDLT with grafts from younger (<50 years=128) vs older donors (≥50 years=31) was compared. Post-transplant graft function, postoperative complications and incidence of HCV recurrence were evaluated.

Chronic pancreatitis in patients with liver cirrhosis negatively affects graft survival after liver transplantation.

Background: Limited data exists concerning the coincidence of chronic pancreatitis (CP) and liver cirrhosis with respect to the patient outcome after liver transplantation (LT). The aim of the study was to identify risk factors for graft loss after liver transplantation and to evaluate the impact of CP on graft survival.

Methods: We analyzed the data of 421 cirrhotic patients who underwent evaluation for primary liver transplantation from January 2007 to January 2014.

Factors associated with long-term survival after liver transplantation: A retrospective cohort study.

Aim: To identify predictive factors associated with long-term patient and graft survival (> 15 years) in liver transplant recipients.

Methods: Medical charts of all adult liver transplant recipients ( = 140) who were transplanted in Hamburg between 1997 and 1999 were retrospectively reviewed. In total, 155 transplantations were identified in this time period (15 re-transplantations).

Early Initiation of Everolimus After Liver Transplantation: A Single-Center Experience.

Background: Evidence relating to early everolimus use after liver transplantation remains limited.

Material And Methods: Ninety-one adult patients undergoing liver transplantation at our center during 2007-2012 in whom everolimus therapy was initiated <3 months post-transplant were analyzed retrospectively. Everolimus was started on days 1-5 in 50 patients (group 1) and after day 5 in 41 patients (group 2).