BACKGROUND Following orthotopic liver transplantation (OLT) histological examination of explant livers from patients with alcoholic liver disease (ALD) sometimes shows extensive iron deposits in a distribution suggestive of homozygous haemochromatosis. AIMS To use haemochromatosis gene (HFE) assays to distinguish between ALD with notable siderosis and hereditary haemochromatosis. To evaluate ...

Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2). Pantothenate kinases catalyze the rate-limiting step of coenzyme A synthesis and Pank2 is the only pantothenate kinase isoform in humans that is localized to mitochondria. Acanthocytosis, the occurrence of...

Spur cell anemia may occur in severe liver disease including alcoholic cirrhosis. Spur cell anemia red blood cells (RBCs) have a characteristic morphology, with irregular projections, an increased ratio of membrane cholesterol (Ch) to phospholipid, evidence of oxidative damage, and shortened survival resulting in hemolytic anemia. Normal RBCs may acquire many of the features of spur cells eithe...

PURPOSE To study the innervation of the presumably contractile, myofibroblast-like scleral spur cells in human and cynomolgus monkey eyes. METHODS Serial tangential sections of the scleral spur region of the eyes of 16 human donors and 6 cynomolgus monkeys were investigated with immunocytochemical methods. Antibodies against acetylcholinesterase, synaptophysin, alpha-smooth muscle actin, calc...

Spur cell anemia may occur in severe liver disease including alcoholic cirrhosis. Spur cell anemia red blood cells (RBCs) have a characteristic morphology, with irregular projections, an increased ratio of membrane cholesterol (Ch) to phospholipid, evidence of oxidative damage, and shortened survival resulting in hemolytic anemia. Normal RBCs may acquire many of the features of spur cells eithe...

The morphology of red blood cells was studied in 30 patients with severe liver cirrhosis, in 10 patients with extrahepatic jaundice, and in 10 control subjects. In all the patients with extrahepatic jaundice more than 30% of red blood cells were target cells with increased resistance to osmotic lysis. In 12 patients with liver cirrhosis more than 30% of red blood cells were spur cells. The chol...

A 63-year-old previously healthy man complained of increasing dyspnoea for 2 weeks. A cardiologist saw him, and an echocardiograph showed a mild pericardial effusion. Serum creatinine concentration was 4.6mg/dl, and the patient was admitted to our clinic for further diagnostic work-up. He had no history of renal disease, a routine serum creatinine was normal 6 months previously, and he was taki...

H edgehog protein and its receptor are made for each other, but even this perfect couple needs a little help to get together. Li et al. (1) reveal that a proteoglycan plays cupid for the molecules and sparks signal transduction through the Hedgehog pathway, a mechanism exploited by a type of childhood cancer. During development, Hedgehog proteins are sculptors, helping to mold the embryo’s limb...

A seven-month-old boy was admitted to a local health center with a two-week history of fever, cough, vomiting, and diarrhea. The patient was the first child of healthy, unrelated parents. Pancytopenia, increased activated partial thromboplastin time (aPTT) and international normalized ratio (INR), and acidosis were detected during local health care evaluation, and the patient was referred to ou...

INTRODUCTION Unlike autoimmune hemolytic anemia (AIHA), literature on the etiological study of non-autoimmune hemolytic anemia (non-AIHA) is scarce. The incidence and prevalence of non-AIHA in different geographic regions are largely unknown perhaps owing to the lack of perspective investigation and different profiles of etiologies from different geographic regions. We aimed to examine the real...