Results 101 to 110 of about 37,115 (234)

Pathophysiological consequences and benefits of HFE mutations: 20 years of research

Haematologica, 2017
Mutations in the HFE (hemochromatosis) gene cause hereditary hemochromatosis, an iron overload disorder that is hallmarked by excessive accumulation of iron in parenchymal organs. The HFE mutation p.Cys282Tyr is pathologically most relevant and occurs in
Ina Hollerer, André Bachmann, Martina U. Muckenthaler   +2 more
doaj   +1 more source

Intersecting Molecular Pathways in Cardiovascular Disease and Diabetes Mellitus: Emerging Roles of Inflammation and Therapeutics

Diabetes/Metabolism Research and Reviews, Volume 42, Issue 4, May 2026.
Central illustration: Pathophysiological mechanisms linking diabetes mellitus and cardiovascular disease. Chronic hyperglycaemia, insulin resistance, and low‐grade inflammation contribute to endothelial dysfunction, myocardial fibrosis, and cardiomyocyte apoptosis.
Lilian Anagnostopoulou, Nikolaos Ktenopoulos, Anastasios Apostolos, Christos Fragoulis, Panayotis Vlachakis, Paschalis Karakasis, Marios Sagris, Nikias Milaras, Maria Drakopoulou, Andreas Synetos, Ioannis Kyriazis, Ioannis Ioannidis, Costas Tsioufis, Konstantinos Toutouzas   +13 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Hemochromatosis: Hereditary hemochromatosis and HFE gene

, 2019
Hereditary Hemochromatosis (HH) is an autosomal recessive genetic disease, characterized by an excessively increased absorption of dietary iron. Excess iron can be accumulated because of the lack of an effective excretory mechanism leading to toxic effects. HH is one of the most common genetic disorders in individuals of European descent.
Katsarou, M.-S., Papasavva, M., Latsi, R., Drakoulis, N.   +3 more
openaire   +3 more sources

Associations between use of aspirin and magnetic resonance imaging‐derived liver fat and fibroinflammation

Diabetes, Obesity and Metabolism, Volume 28, Issue 5, Page 3895-3902, May 2026.
Abstract Background The effects of aspirin on hepatic steatosis and fibroinflammation are unclear. The study aimed to examine the association between aspirin use and liver magnetic resonance imaging (MRI)‐derived liver fat and corrected T1 (cT1). Methods We used UK Biobank imaging cohort data.
Qi Feng, Pinelopi Manousou, Chioma N. Izzi‐Engbeaya, Jun Liu, Mark Woodward   +4 more
wiley   +1 more source

Adaptations to iron deficiency: cardiac functional responsiveness to norepinephrine, arterial remodeling, and the effect of beta-blockade on cardiac hypertrophy. [PDF]

, 2002
BackgroundIron deficiency (ID) results in ventricular hypertrophy, believed to involve sympathetic stimulation. We hypothesized that with ID 1) intravenous norepinephrine would alter heart rate (HR) and contractility, 2) abdominal aorta would be larger ...
Chew, Herbert George, Gibbs, Brett Jason, Hearthway, Megan Lesley, Motsko, Madelyne, Mullendore, Michael Eugene, Premo, Daniel Aaron, Sappington, Andrea, Turner, Lexa Rae, Walker, LeeAnn   +8 more
core   +1 more source

Global consensus on the management of melanin hyperpigmentation disorders

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 5, Page 760-772, May 2026.
A global Delphi consensus of 10 dermatology experts established evidence‐based recommendations for melanin hyperpigmentation disorders, providing unified classification, photoprotection guidance and treatment algorithms. This framework harmonizes terminology and supports individualized management across diverse skin types and health systems.
Thierry Passeron, Seemal R. Desai, Marwa Abdallah, Firas Al‐Niaimi, Ncoza Dlova, Pearl E. Grimes, Jorge Ocampo‐Candiani, Rashmi Sarkar, Leihong Flora Xiang, Helio Amante Miot   +9 more
wiley   +1 more source

HFE-Associated Hereditary Haemochromatosis

Canadian Journal of Gastroenterology, 2000
Hereditary hemochromatosis is a common inherited disorder of the iron metabolism. Screening studies indicate that it has a prevalence of one in 200 to 400, depending on the population studied, and a carrier rate of about one in seven to one in 10.
Emmeke J Eijkelkamp, Thomas R Yapp, Lawrie W Powell   +2 more
doaj   +1 more source

Rare autosomal dominant hereditary hemochromatosis associated with SLC40A1 gene: ferroportin disease or type 4 hereditary hemochromatosis? [PDF]

, 2019
Ferroportin (FPN1), encoded by the SLC40A1 gene, is the unique cellular iron exporter identified in mammals. FPN1 transfers iron from the intestine and macrophages into the bloodstream. This function is negatively regulated by hepcidin.
Faustino, Paula, Fleming, Rita, Lavinha, João, Machado, Miguel P., Mendonça, Joana, Simão, Rita, Tavares, Wilson, Vieira, Luís   +7 more
core  

Hemochromatosis Treatment by Venipuncture Through History: Applying Venipuncture in the Treatment of Hemochromatosis

Southeastern European Medical Journal, 2018
Hemochromatosis is a hereditary disease caused by the mutation of genes responsible for regulating iron metabolism in the body. The mutation results in elevated iron absorption from the food that is deposited and stored in various organs and tissues. Due
Marija Čuljak
doaj   +1 more source