Nonalcoholic fatty liver disease (NAFLD) is a common cause of chronic liver disease in the world, affecting more than 25% of the adult population. NAFLD covers a spectrum including simple steatosis... Show moreNonalcoholic fatty liver disease (NAFLD) is a common cause of chronic liver disease in the world, affecting more than 25% of the adult population. NAFLD covers a spectrum including simple steatosis, in which lipid accumulation in hepatocytes is the predominant histological characteristic, and nonalcoholic steatohepatitis (NASH), which is characterized by additional hepatic inflammation with or without fibrosis. Liver biopsy is currently the reference standard to discriminate between hepatic steatosis and steatohepatitis. Since liver biopsy has several disadvantages, noninvasive diagnostic methods with high sensitivity and specificity are desirable for the analysis of NAFLD. Improvements in magnetic resonance imaging (MRI) technology are continuously being implemented in clinical practice, specifically multiparametric MRI methods such as proton density fat-fraction (PDFF), T-2*, and T(1)mapping, along with MR elastography. Multiparametric imaging of the liver has a promising role in the clinical management of NAFLD with quantification of fat content, iron load, and fibrosis, which are features in NAFLD. In the present article, we review the utility and limitations of multiparametric quantitative imaging of the liver for diagnosis and management of patients with NAFLD. Level of Evidence 5. Technical Efficacy Stage 3. Show less
The MELD score is used in the Eurotransplant (ET) region to allocate liver grafts. Hyponatremia in cirrhotic patients is an important predictor of death but is not incorporated in MELD. This study... Show moreThe MELD score is used in the Eurotransplant (ET) region to allocate liver grafts. Hyponatremia in cirrhotic patients is an important predictor of death but is not incorporated in MELD. This study investigated the performance of the MELD-Na score for the ET region. All adult patients with chronic liver disease on the ET liver transplantation waiting list (WL) allocated through lab MELD scores were included. The MELD-corrected effect of serum sodium (Na) concentration at listing on the 90-day WL mortality was calculated using Cox regression. The MELD-Na performance was assessed with c-indices, calibration per decile and Brier scores. The reclassification from MELD to MELD-Na score was calculated to estimate the impact of MELD-Na-based allocation in the ET region. For the 5223 included patients, the risk of 90-day WL death was 2.9 times higher for hyponatremic patients. The MELD-Na had a significantly higher c-index of 0.847 (SE 0.007) and more accurate 90-day mortality prediction compared to MELD (Brier score of 0.059 vs 0.061). It was estimated that using MELD-Na would reduce WL mortality by 4.9%. The MELD-Na score yielded improved prediction of 90-day WL mortality in the ET region and using MELD-Na for liver allocation will very likely reduce WL mortality. Show less
Faraci, M.; Bertaina, A.; Dalissier, A.; Ifversen, M.; Schulz, A.; Gennery, A.; ... ; EBMT Pediat Dis Working Party 2019
BackgroundRetinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a small vessel disease caused by C-terminal truncating TREX1 mutations. The disease is... Show moreBackgroundRetinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a small vessel disease caused by C-terminal truncating TREX1 mutations. The disease is typically characterized by vascular retinopathy and focal and global brain dysfunction. Systemic manifestations have also been reported but not yet systematically investigated.MethodsIn a cross-sectional study, we compared the clinical characteristics of 33 TREX1 mutation carriers (MC+) from three Dutch RVCL-S families with those of 37 family members without TREX1 mutation (MC-). All participants were investigated using personal interviews, questionnaires, physical, neurological and neuropsychological examinations, blood and urine tests, and brain MRI.ResultsIn MC+, vascular retinopathy and Raynaud's phenomenon were the earliest symptoms presenting from age 20 onwards. Kidney disease became manifest from around age 35, followed by liver disease, anaemia, markers of inflammation and, in some MC+, migraine and subclinical hypothyroidism, all from age 40. Cerebral deficits usually started mildly around age 50, associated with white matter and intracerebral mass lesions, and becoming severe around age 60-65.ConclusionsRetinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations is a rare, but likely underdiagnosed, systemic small vessel disease typically starting with vascular retinopathy, followed by multiple internal organ disease, progressive brain dysfunction, and ultimately premature death. Show less
Kerbert, A.J.C.; Reverter, E.; Verbruggen, L.; Tieleman, M.; Navasa, M.; Mertens, B.J.A.; ... ; Coenraad, M.J. 2018
