The time to address the gorillas in the room is overdue
John F. Renz – 12 August 2013
John F. Renz – 12 August 2013
Dan Yin, Vasu Kulhalli, Ann P. Walker – 12 August 2013 – Hyperferritinemia and bilateral cataracts are features of the rare hereditary hyperferritinemia cataract syndrome (HHCS; OMIM #600886). HHCS is an autosomal dominant condition caused by mutations which increase expression of the ferritin light polypeptide (FTL) gene. We report a patient with HHCS who was misdiagnosed and treated as having hemochromatosis, in whom a heterozygous c.‐160A>G mutation was identified in the iron responsive element (IRE) of FTL, causing ferritin synthesis in the absence of iron overload.
Jung‐Hwan Kim, Aijuan Qu, Janardan K. Reddy, Bin Gao, Frank J. Gonzalez – 12 August 2013 – Growth arrest and DNA damage‐inducible beta (GADD45b) plays an important role in many intracellular events, such as cell cycle arrest, DNA repair, cell survival, apoptosis, and senescence. However, its mechanism of transcriptional regulation remains unclear. In this study the mechanism of peroxisome proliferator‐activated receptor α (PPARα) ligand induction of the Gadd45b gene in mouse liver was investigated.
Kathryn M. Kitrinos, Amoreena Corsa, Yang Liu, John Flaherty, Andrea Snow‐Lampart, Patrick Marcellin, Katyna Borroto‐Esoda, Michael D. Miller – 12 August 2013 – One major challenge in the treatment of chronic hepatitis B is to maintain long‐term viral suppression without promoting the selection of drug‐resistant mutations. We analyzed data from 347 hepatitis B e antigen‐negative and 238 hepatitis B e antigen‐positive patients receiving tenofovir disoproxil fumarate (TDF) in an open‐label, long‐term extension of two phase 3 studies.
Dan Yin, Vasu Kulhalli, Ann P. Walker – 12 August 2013 – Hyperferritinemia and bilateral cataracts are features of the rare hereditary hyperferritinemia cataract syndrome (HHCS; OMIM #600886). HHCS is an autosomal dominant condition caused by mutations which increase expression of the ferritin light polypeptide (FTL) gene. We report a patient with HHCS who was misdiagnosed and treated as having hemochromatosis, in whom a heterozygous c.‐160A>G mutation was identified in the iron responsive element (IRE) of FTL, causing ferritin synthesis in the absence of iron overload.
M. Eric Gershwin, Edward L. Krawitt – 12 August 2013
Pierre Berlioux, Marie Angèle Robic, Hélène Poirson, Sophie Métivier, Philippe Otal, Carine Barret, Frédéric Lopez, Jean Marie Péron, Jean Pierre Vinel, Christophe Bureau – 12 August 2013 – Transjugular intrahepatic portosystemic shunts (TIPS) is a second‐line treatment because of an increased incidence of overt hepatic encephalopathy (OHE). A better selection of patients to decrease this risk is needed and one promising approach could be the detection of minimal hepatic encephalopathy (MHE).
Manfred Wiese, Janett Fischer, Micha Löbermann, Uwe Göbel, Kurt Grüngreiff, Wolfgang Güthoff, Ulrike Kullig, Franziska Richter, Ingolf Schiefke, Hannelore Tenckhoff, Alexander Zipprich, Thomas Berg, Tobias Müller, for the East German HCV Study Group – 8 August 2013 – The natural course of HCV infection remains controversial. The German HCV (1b)‐contaminated anti‐D cohort provides an ideal population to investigate the natural course of HCV infection in a large, homogenous cohort of young women from the date of HCV inoculation.
Jamuna Karkhanis, Elizabeth C. Verna, Matthew S. Chang, R. Todd Stravitz, Michael Schilsky, William M. Lee, Robert S. Brown, for the Acute Liver Failure Study Group – 8 August 2013 – Drug‐induced and indeterminate acute liver failure (ALF) might be due to an autoimmune‐like hepatitis that is responsive to corticosteroid therapy. The aim of this study was to evaluate whether corticosteroids improve survival in fulminant autoimmune hepatitis, drug‐induced, or indeterminate ALF, and whether this benefit varies according to the severity of illness.
Rohit A. Sinha, Benjamin L. Farah, Brijesh K. Singh, Monowarul M. Siddique, Ying Li, Yajun Wu, Olga R. Ilkayeva, Jessica Gooding, Jianhong Ching, Jin Zhou, Laura Martinez, Sherwin Xie, Boon‐Huat Bay, Scott A. Summers, Christopher B. Newgard, Paul M. Yen – 8 August 2013 – Caffeine is one of the world's most consumed drugs. Recently, several studies showed that its consumption is associated with lower risk for nonalcoholic fatty liver disease (NAFLD), an obesity‐related condition that recently has become the major cause of liver disease worldwide.