Three main non-invasive imaging methods are routinely used for the assessment of liver fibrosis and steatosis in patients with nonalcoholic fatty disease (NAFLD): vibration-controlled transient elastography (VCTE) using FibroScan device, magnetic resonance (MRI) based on proton density fat fraction (PDFF), (MRE). The purpose our study is to evaluate efficiency VCTE findings compared two others ...

Evaluation of: Gannon PO, Medelci S, Le Page C et al. Impact of hemochromatosis gene (HFE) mutations on epithelial ovarian cancer risk and prognosis. Int. J. Cancer 128(10), 2326-2334 (2011). The frequency of two mutations (C282Y and D62H) of the hemochromatosis gene were investigated in women with ovarian cancer. A single allele mutation of the C282Y but not the H63D gene product was detected ...

Hereditary hemochromatosis is a genetic disease that progresses silently. This disease is often diagnosed late when complications appear. Hypogonadotropic hypogonadism (HH) is one of the classical complications of hemochromatosis. Its frequency is declining probably because of earlier diagnosis and better informed physicians. Certain symptoms linked to HH can have an impact on a patient's sexua...

The effect of five different transferrin variants (TFv1, TFv2, TFv3, TFv4, and TFv5) on the hemoglobin level, mean corpuscular volume (MCV), ferritin level, percent transferrin saturation (%TS), and the unsaturated iron binding capacity (UIBC) was investigated in subjects with defined HFE haplotypes, 919 persons undergoing health screening and 113 patients with clinical hemochromatosis. The mos...

Most patients with hereditary hemochromatosis are homozygous for C282Y in the HFE gene in populations of Celtic origin, but the genetic cause of this disease is unknown in Japan because of its rarity. A 48-year-old Japanese patient was recently diagnosed with idiopathic hemochromatosis. Analysis of the entire coding region of the patient's HFE by RT-PCR showed a heterozygous nucleotide substitu...

BACKGROUND Pathologists are often faced with the dilemma of whether to recommend continuation of methotrexate therapy for psoriasis within the context of an existing pro-fibrogenic risk factor, in this instance, patients with genetic hemochromatosis. CASE PRESENTATIONS We describe our experience with two male psoriatic patients (A and B) on long term methotrexate therapy (cumulative dose A = ...

The hemochromatosis term was originally used by von Recklinghausen in 1889 to describe tissue injury caused by iron overload. A current definition of hemochromatosis describes it as an inherited disorder of iron metabolism, characterized by inappropriately high absorption of iron by the gastrointestinal mucosa, leading to excessive storage of iron (particularly in the liver, skin, pancreas, hea...