Results 1 to 10 of about 3,374,032 (169)

HFE hemochromatosis: an overview about therapeutic recommendations

Hematology, Transfusion and Cell Therapy, 2022
Hemochromatosis is currently characterized by the iron overload caused by hepcidin deficiency. Large advances in the knowledge on the hemochromatosis pathophysiology have occurred due to a better understanding of the protein of the iron metabolism, the ...
Rodolfo D. Cancado, Aline Morgan Alvarenga, Paulo Caleb JL Santos   +2 more
doaj   +3 more sources

A preterm neonate with infantile liver failure syndrome 1 due to leucyl-tRNA synthetase 1 gene (<i>LARS1</i>) mutations with a histopathologic phenotype of neonatal hemochromatosis. [PDF]

JPGN Rep
Abstract We report a case of a premature, growth‐restricted female infant with feeding intolerance and coagulopathy, treated initially for sepsis, who progressed to neonatal acute liver failure and end‐stage hepatic encephalopathy after a prolonged hospitalization with extensive diagnostic evaluation, and was found by autopsy to have histopathologic ...
Bruder A, Laventhal N, Rabah R, Meadow J.   +3 more
europepmc   +2 more sources

The hemochromatosis protein HFE 20 years later: An emerging role in antigen presentation and in the immune system. [PDF]

Immun Inflamm Dis, 2017
Reuben A, Chung JW, Lapointe R, Santos MM.   +3 more
europepmc   +2 more sources

Circulating TREM2 as a noninvasive diagnostic biomarker for NASH in patients with elevated liver stiffness

Hepatology, EarlyView., 2022
Abstract Background and Aims Reliable noninvasive biomarkers are an unmet clinical need for the diagnosis of NASH. This study investigates the diagnostic accuracy of the circulating triggering receptor expressed on myeloid cells 2 (plasma TREM2) as a biomarker for NASH in patients with NAFLD and elevated liver stiffness.
Vineesh Indira Chandran, Charlotte Wilhelmina Wernberg, Mette Munk Lauridsen, Maria Kløjgaard Skytthe, Sofie Marchsteiner Bendixen, Frederik Tibert Larsen, Camilla Dalby Hansen, Lea Ladegaard Grønkjær, Majken Storm Siersbæk, Tina Di Caterino, Sönke Detlefsen, Holger Jon Møller, Lars Grøntved, Kim Ravnskjaer, Søren Kragh Moestrup, Maja Sofie Thiele, Aleksander Krag, Jonas Heilskov Graversen   +17 more
wiley   +1 more source

Nicotinamide riboside and pterostilbene reduces markers of hepatic inflammation in NAFLD: A double‐blind, placebo‐controlled clinical trial

Hepatology, EarlyView., 2022
NRPT 1X reduces ALT and ceramide 14:0 in 65% of subjects as compared to only 28% in the placebo group. Abstract Background and Aims The prevalence of NAFLD is increasing globally and on a path to becoming the most frequent cause of chronic liver disease. Strategies for the prevention and treatment of NAFLD are urgently needed.
Ryan W. Dellinger, Holly E. Holmes, Tina Hu‐Seliger, Rodney W. Butt, Stephen A. Harrison, Dariush Mozaffarian, Oliver Chen, Leonard Guarente   +7 more
wiley   +1 more source

Graph Convolutional Neural Network-Based Virtual Screening of Phytochemicals and In-Silico Docking Studies of Drug Compounds for Hemochromatosis

IEEE Access, 2023
Machine learning based Virtual Screening has proved as an important intermediate process that helps in the field of drug discovery in reducing the cost and manpower of classical drug discovery process.
R. Ani, O. S. Deepa
doaj   +1 more source

Platelet counts in HFE p.C282Y/p.C282Y and wt/wt post-screening clinical evaluation participants

Platelets, 2023
Our aim was to document the effects of genotype HFE p.C282Y/p.C282Y and hemochromatosis-associated laboratory and clinical manifestations on platelet counts (PC).
James C. Barton, J. Clayborn Barton, Ronald T. Acton   +2 more
doaj   +1 more source

Screening for Hereditary Hemochromatosis in Newly Referred Diabetes Mellitus

American Journal of Medicine Open, 2023
Aims: Hereditary hemochromatosis (HH) is the most common inherited disease in European populations. It is particularly common in people of Irish heritage, approximately 2% of whom will be at risk of iron overload as a result of human homoeostatic iron ...
Michael Lockhart, Muhammad Ridhwaan Salehmohamed, Dileep Kumar, Anne Graham Cummiskey, Keat Cheah Seong, Seamus Sreenan, John McDermott   +6 more
doaj   +1 more source

Hemochromatosis, alcoholism and unhealthy dietary fat: a case report

Journal of Medical Case Reports, 2021
Background Hereditary hemochromatosis is an autosomal recessive disorder where the clinical phenotype of skin pigmentation and organ damage occurs only in homozygotes.
Venkatachalam Shobi, Awe Adeseye, Ballard Billy, Kalliny Medhat   +3 more
doaj   +1 more source

A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis

Haematologica, 2009
Low levels of hepcidin are responsible for the development of iron overload in p.Cys282Tyr HFE related hemochromatosis. Every genetic factor lowering the hepcidin gene expression could contribute to a more severe phenotype in HFE hemochromatosis.
Marie-Laure Island, Anne-Marie Jouanolle, Annick Mosser, Yves Deugnier, Véronique David, Pierre Brissot, Olivier Loréal   +6 more
doaj   +1 more source