Results 71 to 80 of about 49,325 (314)
A Late Presentation of a Fatal Disease: Juvenile Hemochromatosis
Case Reports in Medicine, 2013 Juvenile hemochromatosis is a rare and severe form of hereditary hemochromatosis. We report the case of a 39-year-old female who presented with heart failure and cirrhosis from previously unrecognized juvenile hemochromatosis.
Cynthia Cherfane +3 more
doaj +1 more source
Hemochromatosis Patients as Voluntary Blood Donors
Canadian Journal of Gastroenterology, 2004 The present study was designed to investigate hemochromatosis patients' suitability as blood donors as well as their perceptions and experience with the current public donation system.
Tara E Power, Paul C Adams
doaj +1 more source
Hepatocarcinoma with tumor thrombus occupying the right atrium and portal vein in a patient with hereditary hemochromatosis and liver cirrhosis [PDF]
, 2018 We present the case of a 46-year old patient with Child-Pugh class C cirrhosis with MEDL-Score 16, and hepatocellular carcinoma invading the inferior vena cava and the right atrium.
Breaban, Iulia +11 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa +4 more
wiley +1 more source
HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study. [PDF]
PLoS ONE, 2018 OBJECTIVE:Despite the high frequency of HFE gene mutations in Western Europe, widespread screening for HFE hemochromatosis is not recommended due to its variable phenotype.
Bastian Oppl +13 more
doaj +1 more source
Hepatitis induced by noni juice from Morinda citrifolia: A rare cause of hepatotoxicity or the tip of the iceberg? [PDF]
, 2006 A 24-year-old female patient presented to her community hospital with mild elevations of serum transaminase and bilirubin levels. Because of multiple sclerosis, she was treated with interferon beta-la for 6 weeks.
Diebold, J. +3 more
core +1 more source
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell +21 more
wiley +1 more source
Ferroportin disease: pathogenesis, diagnosis and treatment
Haematologica, 2017 Ferroportin Disease (FD) is an autosomal dominant hereditary iron loading disorder associated with heterozygote mutations of the ferroportin-1 (FPN) gene.
Antonello Pietrangelo
doaj +1 more source
Frontiers in Cardiovascular Medicine, 2023 BackgroundIron overload cardiomyopathy (IOC) is a major co-morbidity of genetic hemochromatosis and secondary iron overload with limited therapeutic options.
Pavel Zhabyeyev +8 more
doaj +1 more source
HFE and transferrin directly compete for transferrin receptor in solution and at the cell surface [PDF]
, 2004 Transferrin receptor (TfR) is a dimeric cell surface protein that binds both the serum iron transport protein transferrin (Fe-Tf) and HFE, the protein mutated in patients with the iron overload disorder hereditary hemochromatosis.
Bjorkman, Pamela J. +1 more
core +2 more sources