Genetic factors that affect nonalcoholic fatty liver disease: A systematic clinical review.

Aim: To investigate roles of genetic polymorphisms in non-alcoholic fatty liver disease (NAFLD) onset, severity, and outcome through systematic literature review.

Methods: The authors conducted both systematic and specific searches of PubMed through December 2015 with special emphasis on more recent data (from 2012 onward) while still drawing from more historical data for background. We identified several specific genetic polymorphisms that have been most researched and, at this time, appear to have the greatest clinical significance on NAFLD and similar hepatic diseases.

Homeostasis of iron and hepcidin in erythropoietic protoporphyria.

Background: Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are genetic abnormalities of heme synthesis that result in excess production of protoporphyrin and that manifest as severe photosensitivity. These disorders are often associated with iron deficiency anaemia (IDA). Our aim was to determine whether hepcidin is increased in EPP/XLP patients, resulting in decreased enteral iron absorption and IDA.

Changing the face of hepatitis C management - the design and development of sofosbuvir.

The availability of direct-acting antiviral (DAA) therapy has launched a new era in the management of chronic hepatitis C. Sofosbuvir, a uridine nucleotide analog that inhibits the hepatitis C RNA-dependent RNA polymerase, is the backbone of chronic hepatitis C therapy. Acting at the catalytic site of the polymerase, sofosbuvir is highly potent in suppressing viral replication and has a high genetic barrier to resistance.

Clinically important features of porphyrin and heme metabolism and the porphyrias.

Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias. Porphyrias are classified as hepatic and erythropoietic porphyrias based on the organ system in which heme precursors (5-aminolevulinic acid (ALA), porphobilinogen and porphyrins) are chiefly overproduced.

Survival analysis of patients with stage I and II hepatocellular carcinoma after a liver transplantation or liver resection.

Introduction: Liver transplantation (LT) is a treatment option in select patients with hepatocellular carcinoma (HCC). The aim of the present study was to compare survival in Stage I or II HCC patients undergoing either liver transplant (LT) or a liver resection (LR).

Method: The study is a retrospective analysis of the National Cancer Data Base (1998-2011).

Pseudo-thrombotic thrombocytopenic purpura: A rare presentation of pernicious anemia.

Context: Schistocytes are fragmented red blood cells due to the flow of blood through damaged capillaries and indicate endothelial injury. They are typical of microangiopathic hemolytic anemia seen in life threatening conditions like disseminated intravascular coagulation or thrombotic thrombocytopenic purpura/hemolytic uremic syndrome .We report a rare sub-acute presentation of pernicious anemia with hemolysis, thrombocytopenia and numerous schistocytes that was initially diagnosed as a more serious thrombotic thrombocytopenic purpura.

Chylous ascites.

Context: Chylous ascites is the accumulation of milky chyle in the peritoneal cavity. Chylous ascites has been reported after surgeries like abdominal aortic aneurysm repair, radical gastrectomy, duodenectomy, nephrectomy and Wilm's tumor resection. Our literature search did not reveal any reports of chylous ascites after a gastric ulcer resection.

A report of iliac muscle abscess due to Mycobacterium bovis after bacillus Calmette-Guerin therapy for bladder cancer.

Bacillus Calmette-Guerin (BCG) vaccine is traditionally used for vaccination against tuberculosis. BCG vaccine contains live attenuated strain of Mycobacterium bovis. Intravesical BCG is also effective in treatment of transitional cell carcinoma of the urinary bladder.