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Hemochromatosis

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https://www.readbyqxmd.com/read/28631037/inclusion-bodies-of-aggregated-hemosiderins-in-liver-macrophages
#1
Hisao Hayashi, Yasuaki Tatsumi, Shinya Wakusawa, Ryota Shigemasa, Ryoji Koide, Ken-Ichi Tsuchida, Natsuko Morotomi, Tetsuji Yamashita, Kotaro Kumagai, Yukiya Ono, Kazuhiko Hayashi, Masatoshi Ishigami, Hidemi Goto, Ayako Kato, Koichi Kato
Hemosiderin formation is a structural indication of iron overload. We investigated further adaptations of the liver to excess iron. Five patients with livers showing iron-rich inclusions larger than 2 µm were selected from our database. The clinical features of patients and structures of the inclusions were compared with those of 2 controls with mild iron overload. All patients had severe iron overload with more than 5000 ng/mL of serum ferritin. Etiologies were variable, from hemochromatosis to iatrogenic iron overload...
June 19, 2017: Medical Molecular Morphology
https://www.readbyqxmd.com/read/28624580/proton-pump-inhibitors-decrease-phlebotomy-need-in-hfe-hemochromatosis-double-blind-randomized-placebo-controlled-trial
#2
Annick Vanclooster, Cees van Deursen, Reggy Jaspers, David Cassiman, Ger Koek
No abstract text is available yet for this article.
June 14, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28610845/hemochromatosis-and-blood-donation
#3
REVIEW
Turid Aarhus Braseth, Tor Hervig, Anne Synnove Rosvik
The voluntary, unpaid, altruistic blood donor is a cornerstone of current transfusion medicine. The complexity of medical and ethical issues related to blood donation and hemochromatosis has led to a large number of studies related to the safety of the hemochromatosis donor and the quality of the blood components produced from these donations. The issue of accepting persons with HC as blood donors is diverting, both in Europe and worldwide and without joint guidelines. A questionnaire-based study was performed and mailed to all 25 blood bank leaders in Norway...
May 18, 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/28609562/cryptogenic-cirrhosis-misunderstood-cause-of-yellow-urticaria
#4
Mariana Boechat Souza, Teresa Russo, Lilian Mathias Delorenze, Gabriela Castro, Giuseppe Argenziano, Vincenzo Piccolo
We read with great interest the paper by Combalia et al recently appeared on Journal of European Academy of Dermatology(1) . The authors reported two cases of yellow urticaria related to liver cirrhosis, one due to hemochromatosis, and the other one to alcohol(1) . With a total of ten cases reported in literature by now, we considered relevant to report another case we recently came across. This article is protected by copyright. All rights reserved.
June 13, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28586532/periodontal-status-and-serum-biomarker-levels-in-hfe-hemochromatosis-patients-a-case-series-study
#5
Vincent Meuric, Fabrice Lainé, Emile Boyer, Sandrine Le Gall-David, Emmanuel Oger, Denis Bourgeois, Philippe Bouchard, Edouard Bardou-Jacquet, Valérie Turmel, Martine Bonnaure-Mallet, Yves Deugnier
AIM: To investigate the association between periodontal status and serum biomarkers in patients with HFE hemochromatosis. MATERIAL AND METHODS: This clinical case series included 84 HFE-C282Y homozygous patients. Periodontal evaluation was performed using clinical attachment level, probing depth, gingival bleeding index, visible plaque index and gingival index. Serum markers of iron metabolism were collected from medical records. The relationship between serum biomarkers of iron burden and the severity of periodontitis was investigated...
June 6, 2017: Journal of Clinical Periodontology
https://www.readbyqxmd.com/read/28579370/the-blood-donor-with-hemochromatosis-to-be-or-not-to-be
#6
EDITORIAL
Tor Hervig, Jerard Seghatchian
No abstract text is available yet for this article.
May 19, 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/28558947/hemochromatosis-protein-hfe-knockout-mice-as-a-novel-model-of-hemochromatosis-implications-for-study-and-management-of-iron-overload-cardiomyopathy
#7
EDITORIAL
Pavel Zhabyeyev, Gavin Y Oudit
No abstract text is available yet for this article.
May 3, 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28558946/a-mouse-model-of-cardiomyopathy-induced-by-mutations-in-the-hemochromatosis-hfe-gene
#8
Haidar Djemai, Rémi Thomasson, Yvan Trzaskus, Nathalie Mougenot, Amira Meziani, Jean-François Toussaint, Philippe Noirez, Damien Vitiello
BACKGROUND: The heart is 1 of the organs most affected by hereditary hemochromatosis (HH). The clinical impact of cardiomyopathy in patients with HH requires a particular diagnosis and less invasive treatments. We developed a model of cardiomyopathy in knockout (KO) mice for the high-Fe (HFE) gene and assessed left ventricular (LV) function and structure from 7-20 months. METHODS: Male wild-type (WT) heterozygous and KO SV129 mice for the HFE gene were used in this study...
March 15, 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28555756/design-and-chemical-syntheses-of-potent-matriptase-2-inhibitors-based-on-trypsin-inhibitor-sfti-1-isolated-from-sunflower-seeds
#9
Agata Gitlin-Domagalska, Dawid Dębowski, Anna Łęgowska, Marit Stirnberg, Joanna Okońska, Michael Gütschow, Krzysztof Rolka
Matriptase-2 plays a pivotal role in keeping iron concentrations within a narrow physiological range in humans. The opportunity to reduce matriptase-2 proteolytic activity may open a novel possibility to treat iron overload diseases, such as hereditary hemochromatosis and thalassemia. Here, we present 23 new analogues of trypsin inhibitor SFTI-1 designed to inhibit human matriptase-2. Influence of the modifications Gly1Lys, Ile10Arg and Phe12His, as well as the introduction of Narg in P1 or P1 and P4 positions were examined...
May 27, 2017: Biopolymers
https://www.readbyqxmd.com/read/28541873/an-unusual-presentation-of-seborrheic-keratoses-in-a-man-with-hereditary-hemochromatosis
#10
Tiffany Y Loh, Philip R Cohen
Hereditary hemochromatosis is an autosomal recessive disorder that disturbs iron metabolism and results in iron deposition throughout the body. Iron accumulation in various organs may cause a wide range of systemic symptoms and cutaneous manifestations of the disease are particularly striking. Classically, hereditary hemochromatosis has been termed "bronze diabetes." Although diffuse hyperpigmentation is a well-described feature of this disease, other cutaneous symptoms may also occur, and a variety of anomalies may be observed...
April 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28541437/hyperferritinemia-and-inflammation
#11
Kate Kernan, Joseph A Carcillo
Understanding of ferritin biology has traditionally centered on its role in iron storage and homeostasis, with low ferritin levels indicative of deficiency and high levels indicative of primary or secondary hemochromatosis. However, further work has shown that iron, redox biology and inflammation are inexorably linked. During infection, increased ferritin levels represent an important host defense mechanism that deprives bacterial growth of iron and protect immune cell function. It may also be protective, limiting the production of free radicals and mediating immunomodulation...
May 25, 2017: International Immunology
https://www.readbyqxmd.com/read/28540293/altered-erythropoiesis-in-mouse-models-of-type-3-hemochromatosis
#12
R M Pellegrino, F Riondato, L Ferbo, M Boero, A Palmieri, L Osella, P Pollicino, B Miniscalco, G Saglio, A Roetto
Type 3 haemochromatosis (HFE3) is a rare genetic iron overload disease which ultimately lead to compromised organs functioning. HFE3 is caused by mutations in transferrin receptor 2 (TFR2) gene that codes for two main isoforms (Tfr2α and Tfr2β). Tfr2α is one of the hepatic regulators of iron inhibitor hepcidin. Tfr2β is an intracellular isoform of the protein involved in the regulation of iron levels in reticuloendothelial cells. It has been recently demonstrated that Tfr2 is also involved in erythropoiesis...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28527894/hfe-genotype-affects-exosome-phenotype-in-cancer
#13
Oliver D Mrowczynski, A B Madhankumar, Becky Slagle-Webb, Sang Y Lee, Brad E Zacharia, James R Connor
Neuroblastoma is the third most common childhood cancer, and timely diagnosis and sensitive therapeutic monitoring remain major challenges. Tumor progression and recurrence is common with little understanding of mechanisms. A major recent focus in cancer biology is the impact of exosomes on metastatic behavior and the tumor microenvironment. Exosomes have been demonstrated to contribute to the oncogenic effect on the surrounding tumor environment and also mediate resistance to therapy. The effect of genotype on exosomal phenotype has not yet been explored...
August 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28521769/modeling-the-dynamics-of-mouse-iron-body-distribution-hepcidin-is-necessary-but-not-sufficient
#14
Jignesh H Parmar, Grey Davis, Hope Shevchuk, Pedro Mendes
BACKGROUND: Iron is an essential element of most living organisms but is a dangerous substance when poorly liganded in solution. The hormone hepcidin regulates the export of iron from tissues to the plasma contributing to iron homeostasis and also restricting its availability to infectious agents. Disruption of iron regulation in mammals leads to disorders such as anemia and hemochromatosis, and contributes to the etiology of several other diseases such as cancer and neurodegenerative diseases...
May 18, 2017: BMC Systems Biology
https://www.readbyqxmd.com/read/28499927/disruption-of-the-hepcidin-ferroportin-regulatory-system-causes-pulmonary-iron-overload-and-restrictive-lung-disease
#15
Joana Neves, Dominik Leitz, Simone Kraut, Christina Brandenberger, Raman Agrawal, Norbert Weissmann, Christian Mühlfeld, Marcus A Mall, Sandro Altamura, Martina U Muckenthaler
Emerging evidence suggests that pulmonary iron accumulation is implicated in a spectrum of chronic lung diseases. However, the mechanism(s) involved in pulmonary iron deposition and its role in the in vivo pathogenesis of lung diseases remains unknown. Here we show that a point mutation in the murine ferroportin gene, which causes hereditary hemochromatosis type 4 (Slc40a1(C326S)), increases iron levels in alveolar macrophages, epithelial cells lining the conducting airways and lung parenchyma, and in vascular smooth muscle cells...
April 29, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28494552/-liver-cirrhosis-with-liver-hemochromatosis-a-case-report
#16
F F Li, G Q Han, Y H Zhu, J Wang, W H Ren
No abstract text is available yet for this article.
April 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/28489136/hyperferritinemia-in-patients-with-nonalcoholic-fatty-liver-disease
#17
Raffaelle K Barros, Helma Pinchemel Cotrim, Carla H Daltro, Yanaihara A Oliveira
Objective: In liver diseases, hyperferritinemia (HYF) is related to injured cells in acquired and genetic conditions with or without iron overload. It is frequent in patients with nonalcoholic fatty liver disease (NAFLD), in which it is necessary to define the mean of HYF to establish the better approach for them. The present study evaluated the significance of elevated ferritin in patients with NAFLD and steatohepatitis (NASH). Method: The review was performed using search instruments of indexed scientific material, including MEDLINE (by PubMed), Web of Science, IBECS and LILACS, to identify articles published in Portuguese, English and Spanish, from 2005 to May, 2016...
March 2017: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/28482413/-hereditary-spherocytosis-complicated-by-hereditary-hemochromatosis-a-case-report
#18
H B Ning, E E Guo, J P Liu, E H Xiao, J Shang
No abstract text is available yet for this article.
March 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/28479501/porphyria-cutanea-tarda-as-the-initial-manifestation-of-subclinical-hereditary-hemochromatosis
#19
Oleksandr Trofymenko, Paul Sagerman, Drew Jb Kurtzman
No abstract text is available yet for this article.
May 4, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28474781/the-hemochromatosis-protein-hfe-20-years-later-an-emerging-role-in-antigen-presentation-and-in-the-immune-system
#20
REVIEW
Alexandre Reuben, Jacqueline W Chung, Réjean Lapointe, Manuela M Santos
INTRODUCTION: Since its discovery, the hemochromatosis protein HFE has been primarily defined by its role in iron metabolism and homeostasis, and its involvement in the genetic disease termed hereditary hemochromatosis (HH). While HH patients are typically afflicted by dysregulated iron levels, many are also affected by several immune defects and increased incidence of autoimmune diseases that have thereby implicated HFE in the immune response. Growing evidence has supported an immunological role for HFE with recent studies describing HFE specifically as it relates to MHC I antigen presentation...
April 19, 2017: Immunity, Inflammation and Disease
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