Results 81 to 90 of about 15,219 (276)

Mutações no gene HFE (C282Y, H63D, S65C) em uma população brasileira [PDF]

, 2006
Hereditary hemochromatosis (HH) is the most common genetic disorder occurring in individuals of northern European descent. The clinical characteristic of this disease is the gradual accumulation of iron in internal organs, which ultimately leads to organ
Bueno, Simone, Duch, Cibele R., Figueiredo, Maria Stella   +2 more
core   +2 more sources

Iron overload in hereditary spherocytosis: Are genetic factors the cause?

British Journal of Haematology, EarlyView.
Summary Non‐transfusional iron overload (IOL) in hereditary spherocytosis (HS) is poorly documented compared with other red blood cell disorders. We studied 13 HS adults with confirmed IOL to identify potential genetic factors. Using a next‐generation sequencing panel of 46 genes related to HS, anaemia and iron metabolism, we found no association ...
Lucie Donaty, Muriel Giansily‐Blaizot, Ivan Bertchansky, Séverine Cunat, Vincent Azoury, Perrine Mahe, Patricia Aguilar Martinez   +6 more
wiley   +1 more source

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. [PDF]

, 2014
Variation in body iron is associated with or causes diseases, including anaemia and iron overload. Here, we analyse genetic association data on biochemical markers of iron status from 11 European-population studies, with replication in eight additional ...
Amin, Najaf, Anderson, Denise, Bandinelli, Stefania, Beilby, John, Benyamin, Beben, Broer, Linda, Camaschella, Clara, Demirkan, Ayse, Esko, Tonu, Franke, Lude, Gieger, Christian, Gögele, Martin, Heath, Andrew C, Hernandez, Dena, Hicks, Andrew A, Hui, Jennie, Häldin, Jonas, Hälldin, Jonas, Isaacs, Aaron, Jolley, Jennifer, Kiemeney, Lambertus A, Kutalik, Zoltan, Langenberg, Claudia, Luan, Jian'An, Madden, Pamela A. F, Martin, Nicholas G, Meitinger, Thomas, Metspalu, Andres, Mihailov, Evelin, Milani, Lili, Montgomery, Grant W, Nyholt, Dale R, Oexle, Konrad, Ouwehand, Willem H, PANICO, SALVATORE, Peters, Annette, Pichler, Irene, Podmore, Clara, Powell, Joseph E, Pramstaller, Peter P, Radhakrishnan, Aparna, Rendon, Augusto, Ried, Janina S, Sala, Cinzia F, Sambrook, Jennifer, Sanna, Serena, Schwienbacher, Christine, Scott, Robert A, Steri, Maristella, Sweep, Fred C, Swinkels, Dorine W, Tanaka, Toshiko, Thiery, Joachim, Toniolo, Daniela, Traglia, Michela, Uda, Manuela, van der Harst, Pim, van der Meer, Peter, van Duijn, Cornelia, Vermeulen, Sita H, Verweij, Niek, Visscher, Peter M, Vollenweider, Peter, Waeber, Gérard, Waldenberger, Melanie, Wang, Fudi, Wareham, Nicholas J, Westra, Harm Jan, Whitfield, John B., Winkelmann, Juliane, Wright, Margaret J   +70 more
core   +5 more sources

New thiazolidinones reduce iron overload in mouse models of hereditary hemochromatosis and β-thalassemia

Haematologica, 2019
Genetic iron-overload disorders, mainly hereditary hemochromatosis and untransfused β-thalassemia, affect a large population worldwide. The primary etiology of iron overload in these diseases is insufficient production of hepcidin by the liver, leading ...
Jing Liu, Wei Liu, Yin Liu, Yang Miao, Yifan Guo, Haoyang Song, Fudi Wang, Hongyu Zhou, Tomas Ganz, Bing Yan, Sijin Liu   +10 more
doaj   +1 more source

How I treat iron‐refractory iron deficiency anaemia—An expert opinion‐based treatment guidance for children and adults

British Journal of Haematology, Volume 206, Issue 4, Page 1067-1076, April 2025.
In iron‐refractory iron deficiency anaemia, inappropriately elevated hepcidin levels impair enteral iron absorption and iron release from macrophages by interacting with ferroportin. Oral iron supplements (containing ~30 mg Fe2+ per 100 mg) are generally ineffective due to this hepcidin–ferroportin interaction although, in some cases, this can be ...
V. Hoving, A. E. Donker, S. E. M. Schols, D. W. Swinkels   +3 more
wiley   +1 more source

Real world evidence of insulin and biosimilar insulin therapy—Opportunities to improve adherence, outcomes and cost‐effectiveness

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Insulin has been discovered for more than a century; however, its benefits to people with diabetes are yet to be fully realized due to barriers related to access, quality of care and costs. Insulin therapy remains the cornerstone of diabetes management. The multicausality of diabetes and its subtypes calls for comprehensive phenotyping and use
Aimin Yang, Jiazhou Yu, Johnny T. K. Cheung, Juliana C. N. Chan, Elaine Chow   +4 more
wiley   +1 more source

Anemia with jaundice: An unusual cause

Medical Journal of Dr. D.Y. Patil University, 2015
Anemia and jaundice are two important clinical signs in medicine. Occurrence of these two signs together in a patient suggests hemolytic disorders. Hemochromatosis is a disease characterized by hyperpigmentation, arthralgia and diabetes.
K. V. S. Hari Kumar, A K Gupta
doaj   +1 more source

1-quasi-hereditary algebras [PDF]

, 2011
Motivated by the structure of the algebras associated to the blocks of the BGG-category O we define a subclass of quasi-hereditary algebras called 1-quasi-hereditary. Many properties of these algebras only depend on the defining partial order. In particular, we can determine the quiver and the form of the relations.
arxiv   +1 more source

Pathological significance of intranuclear structures in liver biopsy samples

Hepatology Research, EarlyView.
Schematic representation of the potential significance of three distinct nuclear structures. Glycogenated nuclei reflects excessive glycogen accumulation in the hepatocytes. Nucleoplasmic lipid droplets form in the nucleus during hepatocyte injury. Cytoplasmic lipid droplets in the nucleoplasmic reticulum are suppressed when there is excessive fat ...
Norihiro Imai, Yuki Ohsaki, Jinglei Cheng, Hanna Kawecka, Jingjing Zhang, Fumitaka Mizuno, Taku Tanaka, Shinya Yokoyama, Kenta Yamamoto, Takanori Ito, Yoji Ishizu, Takashi Honda, Tetsuya Ishikawa, Michał Woźniak, Hiroaki Wake, Hiroki Kawashima   +15 more
wiley   +1 more source

Bull's eye maculopathy associated with hereditary hemochromatosis

American Journal of Ophthalmology Case Reports, 2020
Purpose: To report a case of bull's eye maculopathy, a novel finding in a patient with iron overload secondary to hereditary hemochromatosis with a homozygous mutation of the HFE gene.
Kellyn N. Bellsmith, Joshua L. Dunaief, Paul Yang, Mark E. Pennesi, Ellen Davis, Holly Hofkamp, Brandon J. Lujan   +6 more
doaj