Effect of iron overload on glucose metabolism in patients with hereditary hemochromatosis
Metabolism-Clinical and Experimental, 10/26/2009
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Hatunic M et al. – The cohort of patients with hemochromatosis and AGT had features similar to typical type 2 DM patients. These findings challenge the traditional view that DM in hemochromatosis is due primarily to iron–induced ... hemochromatosis
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Hemochromatosis and Vibrio vulnificus Wound Infections
Journal of Clinical Gastroenterology, 09/29/2009
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Barton JC et al. – All patients with V. vulnificus infections should be evaluated for hemochromatosis, iron overload, and liver disorders.
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Enhanced MR imaging of the shoulder, and sternoclavicular and acromioclavicular joint arthritis in primary hemochromatosis
Rheumatology International, 10/22/2009
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Farpour F et al. – Shoulder arthritis is a common feature of hemochromatosis. MRI of the left shoulder revealed inflammatory arthritis and 1–cm erosion of the humeral head ... deposit. MRI of the AC joint showed inflammation and erosion with joint fluid.
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Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation
Hepatology, 11/23/2009
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Griffiths WJH et al. – The authors report a novel pathological SLC40A1 variant associated with abnormal cell surface expression of ferroportin due to intracellular ... observed in this kindred. Study of the molecular cell biology of ferroportin and its mutants is key to understanding the pathogenesis of this increasingly recognized form of hemochromatosis, which responds poorly to conventional therapy.
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Does Oxidative Stress Modulate Left Ventricular Diastolic Function in Asymptomatic Subjects with Hereditary Hemochromatosis
Echocardiography, 08/31/2009
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Shizukuda Y et al. – Although this study was limited by the relatively small subject number, these results suggest that a possible role of oxidative stress to affect LV ... effect.
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Treatment of Neonatal Hemochromatosis with Exchange Transfusion and Intravenous Immunoglobulin
The Journal of Pediatrics, 08/13/2009
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Rand EB et al. – Immune therapy with ET/IVIG appears to improve the outcome and reduce the need for liver transplantation in patients with NH.
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An extensive analysis of the hereditary hemochromatosis gene HFE and neighboring histone genes: associations with childhood leukemia
Annals of Hematology, 10/09/2009
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Davis CF et al. – The HapMap data suggested positive selection in this region even in populations where the HFE C282Y mutation is absent. These results have ... associations observed in this region and suggest the inclusion of rs807212 in future studies of the HFE gene and the extended HLA class I region.
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Relationship of Proximal Renal Tubular Dysgenesis and Fetal Liver Injury in Neonatal Hemochromatosis
Pediatric Research, 10/07/2009
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Bonilla SF et al. – These results demonstrate that there is a spectrum of kidney pathology in NH patients including a large proportion of cases with severe proximal tubular dysgenesis ... support renal tubular development is the likely mechanism of kidney disease in NH.
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Increased Mortality Risk in Patients With Phenotypic Hereditary Hemochromatosis But Not in Their First-Degree Relatives
Gastroenterology, 10/07/2009
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Elmberg M et al. – Patients with HH have a modestly increased mortality risk compared with controls. The mortality of relatives is increased marginally compared with ... gastroenterology,basic science/genetics
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A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases
British Journal of Haematology, 08/27/2009
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By contrast, it was resistant to inhibition by hepcidin. These findings confirm that certain ferroportin mutations compromise the activity of hepcidin in iron homeostasis, mimicking hepcidin deficiency as described in all types of hemochromatosis.
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