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Hemochromatosis

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https://www.readbyqxmd.com/read/28527894/hfe-genotype-affects-exosome-phenotype-in-cancer
#1
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...
May 17, 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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/28470440/-fifteen%C3%A2-years-of-the-histopathological-synovitis-score-review-and-further-developments-of%C3%A2-a%C3%A2-diagnostic-score
#9
REVIEW
V Krenn, G Perino, W Rüther, V T Krenn, M Huber, T Hügle, A Najm, S Müller, F Boettner, F Pessler, W Waldstein, J Kriegsmann, T Häupl, S Wienert, M G Krukemeyer, S Sesselmann, R Tikhilov, L Morawietz
The histopathological synovitis score evaluates in a graded approach, as is largely usual for diagnostic histopathological scores, the immunological and inflammatory changes caused by synovitis. A synovitis score of between 1 and ≤ 4 is classified as low-grade (osteoarthritis-related synovitis, post-traumatic synovitis, meniscopathy-related synovitis and synovitis in hemochromatosis). Synovitis scores of between ≥ 5 and 9 are classified as high-grade synovitis (rheumatoid arthritis, psoriatic arthritis, Lyme's arthritis, post-infection/reactive arthritis and peripheral arthritis in Bechterew disease); sensitivity is 61...
May 3, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28443261/diabetes-mellitus-caused-by-secondary-hemochromatosis-after-multiple-blood-transfusions-in-2-patients-with-severe-aplastic-anemia
#10
Hyun Jin Kim, Yoon-Myung Kim, Eungu Kang, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Hemochromatosis is an inherited or secondary disorder caused by excessive iron storage leading to multiple organ damage. We describe 2 patients with diabetes mellitus caused by hemochromatosis secondary to multiple blood transfusions due to severe aplastic anemia. Subject 1, who was diagnosed with severe aplastic anemia at 15 years of age, received multiple red blood cell transfusions before he underwent autologous peripheral blood stem cell transplantation (PBSCT) at 22 years of age. At 21 years of age, hyperglycemia was detected with increased hemoglobin A1c and serum ferritin levels, 9...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28443246/genetic-and-dietary-iron-overload-differentially-affect-the-course-of-salmonella-typhimurium-infection
#11
Manfred Nairz, Andrea Schroll, David Haschka, Stefanie Dichtl, Piotr Tymoszuk, Egon Demetz, Patrizia Moser, Hubertus Haas, Ferric C Fang, Igor Theurl, Günter Weiss
Genetic and dietary forms of iron overload have distinctive clinical and pathophysiological features. HFE-associated hereditary hemochromatosis is characterized by overwhelming intestinal iron absorption, parenchymal iron deposition, and macrophage iron depletion. In contrast, excessive dietary iron intake results in iron deposition in macrophages. However, the functional consequences of genetic and dietary iron overload for the control of microbes are incompletely understood. Using Hfe(+/+) and Hfe(-/-) mice in combination with oral iron overload in a model of Salmonella enterica serovar Typhimurium infection, we found animals of either genotype to induce hepcidin antimicrobial peptide expression and hypoferremia following systemic infection in an Hfe-independent manner...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28439222/hemochromatosis-erythrocytosis-and-the-jak2-p-v617f-mutation
#12
EDITORIAL
Stephen E Langabeer
No abstract text is available yet for this article.
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28437325/presenting-features-and-prognosis-of-ischemic-and-nonischemic-neonatal-liver-failure
#13
Carlos Zozaya Nieto, Beatriz Fernández Caamaño, Gema Muñoz Bartolo, Juan J Menéndez Suso, Esteban Frauca Remacha, Eva Valverde Núñez
OBJECTIVES: To describe the epidemiological features, clinical characteristics and outcomes of neonates diagnosed with liver failure, as well as determine prognostic factors. METHODS: Cohort study conducted at a single tertiary referral and university-affiliated pediatric center. Hospital records of all neonates diagnosed with liver failure between January 2003 and December 2015 were retrospectively reviewed, and data on clinical and laboratory findings, treatment, and outcomes were collected...
May 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28433108/genetic-and-environmental-modifiers-of-wilson-disease
#14
Valentina Medici, Karl-Heinz Weiss
Wilson disease (WD) is characterized by remarkable variety in its phenotypic presentation. Patients with WD can present with hepatic, neurologic, and psychiatric symptoms combined in different and unpredictable ways. Importantly, no convincing phenotype-genotype correlation has ever been identified, opening the possibility that other genes, aside from ATPase copper-transporting beta (ATP7B), are involved in the pathogenesis of this condition. In addition, modifier genes, or genes that can affect the expression of other genes, may be involved...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28425416/gnpat-rs11558492-is-not-a-major-modifier-of-iron-status-study-of-italian-hemochromatosis-patients-and-blood-donors
#15
Federico Greni, Luca Valenti, Raffaella Mariani, Irene Pelloni, Raffaela Rametta, Fabiana Busti, Giulia Ravasi, Domenico Girelli, Silvia Fargion, Stefania Galimberti, Alberto Piperno, Sara Pelucchi
BACKGROUND AND AIM: HFE-related Hemochromatosis (HH) is characterized by marked phenotype heterogeneity, probably due to the combined action of acquired and genetic factors. Among them, GNPAT rs11558492 was proposed as genetic modifier of iron status, but results are still controversial. To shed light on these discrepancies, we genotyped 298 Italian p.C282Y homozygotes and 169 healthy controls. MATERIAL AND METHODS: Allele and genotype frequencies were analysed and compared with those reported in Exome Variant Server (EVS)...
May 2017: Annals of Hepatology
https://www.readbyqxmd.com/read/28424751/levodopa-responsive-parkinsonism-in-patients-with-hemochromatosis-case-presentation-and-literature-review
#16
Tarun Girotra, Abhimanyu Mahajan, Christos Sidiropoulos
Hemochromatosis is an autosomal recessive disorder which leads to abnormal iron deposition in the parenchyma of multiple organs causing tissue damage. Accumulation of iron in the brain has been postulated to be associated with several neurodegenerative diseases including Parkinson's disease. The excess iron promotes Parkin and α-synuclein aggregation in the neurons. Excess iron has also been noted in substantia nigra on MRI especially using susceptibility weighted imaging in patients with Parkinson's disease...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28406842/hfe-gene-mutations-and-iron-status-in-100-healthy-polish-children
#17
Barbara Kaczorowska-Hac, Marcin Luszczyk, Jedrzej Antosiewicz, Wieslaw Ziolkowski, Elzbieta Adamkiewicz-Drozynska, Malgorzata Mysliwiec, Ewa Milosz, Jan J Kaczor
Iron participates in oxygen transport, energetic, metabolic, and immunologic processes. There are 2 main causes of iron overload: hereditary hemochromatosis which is a primary cause, is a metabolic disorder caused by mutations of genes that control iron metabolism and secondary hemochromatosis caused by multitransfusions, chronic hemolysis, and intake of iron rich food. The most common type of hereditary hemochromatosis is caused by HFE gene mutation. In this study, we analyzed iron metabolism in 100 healthy Polish children in relation to their HFE gene status...
April 12, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28387022/systemic-iron-homeostasis-and-erythropoiesis
#18
REVIEW
George Papanikolaou, Kostas Pantopoulos
Iron is an essential nutrient that is potentially toxic due to its redox reactivity. Insufficient iron supply to erythroid cells, the major iron consumers in the body, leads to various forms of anemia. On the other hand, iron overload (hemochromatosis) is associated with tissue damage and diseases of liver, pancreas, and heart. Physiological iron balance is tightly controlled at the cellular and systemic level by iron regulatory proteins (IRP1, IRP2) and the iron regulatory hormone hepcidin, respectively. Underlying mechanisms often intersect to achieve optimal iron utilization, to control immune responses, and to prevent iron toxicity...
April 6, 2017: IUBMB Life
https://www.readbyqxmd.com/read/28379030/the-role-of-iron-in-the-pathogenesis-of-atherosclerosis
#19
P Kraml
Ferritin and increased iron stores first appeared on the list of cardiovascular risk factors more than 30 years ago and their causal role in the pathogenesis of atherosclerosis has been heavily discussed since the early 1990s. It seems that besides traditional factors such as hyperlipoproteinemia, hypertension, diabetes mellitus, obesity, physical inactivity, smoking and family history, high iron stores represent an additional parameter that could modify individual cardiovascular risk. The role of iron in the pathogenesis of atherosclerosis was originally primarily associated with its ability to catalyze the formation of highly reactive free oxygen radicals and the oxidation of atherogenic lipoproteins...
April 5, 2017: Physiological Research
https://www.readbyqxmd.com/read/28371912/hereditary-hemochromatosis-arthropathy-and-doppler-ultrasound-findings-of-synovitis
#20
Anu R Oke, Ernest Wong, Fiona McCrae, Steven Young-Min
No abstract text is available yet for this article.
March 22, 2017: Rheumatology
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