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Hemochromatosis

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https://www.readbyqxmd.com/read/29237594/structure-function-analysis-of-ferroportin-defines-the-binding-site-and-an-alternative-mechanism-of-action-of-hepcidin
#1
Sharraya Aschemeyer, Bo Qiao, Deborah Stefanova, Erika V Valore, Albert C Sek, T Alex Ruwe, Kyle R Vieth, Grace Jung, Carla Casu, Stefano Rivella, Mika Jormakka, Bryan Mackenzie, Tomas Ganz, Elizabeta Nemeth
Non-classical Ferroportin Disease is a form of hereditary hemochromatosis caused by mutations in the iron transporter ferroportin (Fpn), resulting in parenchymal iron overload. Fpn is regulated by the hormone hepcidin, which induces Fpn endocytosis and cellular iron retention. We characterized 11 clinically-relevant and 5 nonclinical Fpn mutations using stably transfected, inducible, isogenic cell lines. All clinical mutants were functionally resistant to hepcidin as a consequence of either impaired hepcidin binding or impaired hepcidin-dependent ubiquitination despite intact hepcidin binding...
December 13, 2017: Blood
https://www.readbyqxmd.com/read/29228359/comment-on-hereditary-hemochromatosis-arthropathy-and-doppler-ultrasound-findings-of-synovitis
#2
Konstantinos Parperis
No abstract text is available yet for this article.
December 7, 2017: Rheumatology
https://www.readbyqxmd.com/read/29225250/importance-of-the-average-glucose-level-and-estimated-glycated-hemoglobin-in-a-diabetic-patient-with-hereditary-hemolytic-anemia-and-liver-cirrhosis
#3
Rieko Nakatani, Takashi Murata, Takeshi Usui, Koki Moriyoshi, Toshiki Komeda, Yuichi Masuda, Maiko Kakita-Kobayashi, Tetsuya Tagami, Shinsaku Imashuku, Shigeo Kono, Kazunori Yamada, Akira Shimatsu
Glycated hemoglobin (HbA1c) is a widely used marker of glycemic control but can be affected by hemolytic anemia. Glycated albumin (GA) is also affected in patients with liver cirrhosis. We herein report the assessment of glycemic control in a 41-year-old man with dehydrated hereditary stomatocytosis and a PIEZO1 gene mutation complicated by diabetes mellitus and liver cirrhosis due to hemochromatosis. The estimated HbA1c calculated from the average glucose level obtained by continuous glucose monitoring or by self-monitoring of blood glucose was useful for evaluating the glycemic control in this patient, as HbA1c and GA were unreliable due to the coexisting conditions...
December 8, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29223935/-iron-intake-and-hfe-gen-in-male-adults-from-buenos-aires
#4
Ana L Felipoff, Silvana J Fleischman, M Luján Donadío, Vanesa Sebastiano, Marcelo Castro, Alejandra Vellicce, Jorge A Rey, Marta M Lardo, Silvia H Langini
Excess iron (Fe) intake in subjects carrying certain mutations in the HFE gene may result in Fe overload. To estimate risk of Fe overload, 166 male blood donors (19-65 years) from Buenos Aires city were investigated. Daily Fe intake (FeI), hem Fe intake, and Fe intake from SO4Fe enriched flours were estimated (SARA Computer Program and Food Composition Table, USDA). Serum ferritin and transferrin saturation were determined; criteria for Fe overload was serum ferritin > 300 ng/ml and transferrin saturation = 50%...
2017: Medicina
https://www.readbyqxmd.com/read/29208771/advanced-iron-overload-cardiomyopathy-in-a-genetic-murine-model-is-rescued-by-resveratrol-therapy
#5
Subhash K Das, Pavel Zhabyeyev, Ratnadeep Basu, Vaibhav B Patel, Jason R B Dyck, Zamaneh Kassiri, Gavin Y Oudit
Iron-overload cardiomyopathy is prevalent on a worldwide basis and is a major co-morbidity in patients with genetic hemochromatosis and secondary iron overload. Therapies are limited in part due to lack of a valid pre-clinical model, which recapitulates advanced iron-overload cardiomyopathy. Male hemojuvelin knockout (HJVKO) mice, which lack hemojuvelin (HJV), a bone morphogenetic co-receptor protein required for hepcidin expression and systemic iron homeostasis, were fed a high iron diet starting at 4 weeks of age for a duration of 1 year...
December 5, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/29201799/hemochromatosis-gene-polymorphism-as-a-predictor-of-sustained-virological-response-to-antiviral-treatment-in-egyptian-chronic-hepatitis-c-patients
#6
Mai I Mehrez, Dina Sa Fattah, Naglaa Aa Azeem, Mohamed A Saleh, Khadiga M Mostafa
Aim: The aim of this article is to assess HFE C282Y gene mutations as a predictor of sustained virological response (SVR) to anti-hepatitis C virus (HCV) treatment in Egyptian patients. Materials and methods: One hundred and forty chronic hepatitis C (CHC) patients were divided into two groups: 70 patients achieved SVR and 70 patients were nonresponders (NRs). All patients were subjected to quantitative polymerase chain reaction (PCR) at baseline, 12 and 24 weeks after therapy commencement...
July 2017: Euroasian Journal of Hepato-Gastroenterology
https://www.readbyqxmd.com/read/29201778/liver-disease-in-sri-lanka
#7
REVIEW
Hasitha S Wijewantha
Liver disease in Sri Lanka is mainly due to alcoholic liver disease and nonalcoholic fatty liver disease. In contrast to other South Asian countries, the prevalence of hepatitis B and C is low in Sri Lanka and prevalence of hepatitis A is intermediate. The few reported cases of hepatitis E in Sri Lanka are mainly in people who have traveled to neighboring South Asian countries. Wilson's disease, autoimmune hepatitis, hemochromatosis, drug-induced liver disease, and primary biliary cirrhosis are recognized causes of liver disease in Sri Lanka...
January 2017: Euroasian Journal of Hepato-Gastroenterology
https://www.readbyqxmd.com/read/29201641/iron-related-gene-variants-and-brain-iron-in-multiple-sclerosis-and-healthy-individuals
#8
Jesper Hagemeier, Murali Ramanathan, Ferdinand Schweser, Michael G Dwyer, Fuchun Lin, Niels Bergsland, Bianca Weinstock-Guttman, Robert Zivadinov
Brain iron homeostasis is known to be disturbed in multiple sclerosis (MS), yet little is known about the association of common gene variants linked to iron regulation and pathological tissue changes in the brain. In this study, we investigated the association of genetic determinants linked to iron regulation with deep gray matter (GM) magnetic susceptibility in both healthy controls (HC) and MS patients. Four hundred (400) patients with MS and 150 age- and sex-matched HCs were enrolled and obtained 3 T MRI examination...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29199911/an-unexpected-cause-of-liver-cirrhosis-and-cardiomyopathy-in-a-young-man
#9
Ruben Pauwels, Els Vandecasteele, Daniel Devos, Walter Pauwels, Michel De Pauw
Introduction Juvenile hemochromatosis is a rare but severe form of hereditary hemochromatosis that typically presents early in life and can be fatal if left untreated. Case presentation We present the case of a 30-year-old man with a clear symptomatology of juvenile hemochromatosis, but in whom the diagnosis was initially mistaken for alcoholic liver disease because of known excessive use of alcohol, with the consequence that an adequate treatment was postponed. Discussion In this report, we discuss the diagnosis and treatment of juvenile hemochromatosis, focusing on the interaction between hemochromatosis and alcohol induced liver disease and how to differentiate both...
December 4, 2017: Acta Clinica Belgica
https://www.readbyqxmd.com/read/29173496/the-interaction-of-iron-and-the-genome-for-better-and-for-worse
#10
Marie-Bérengère Troadec, Olivier Loréal, Pierre Brissot
Iron, as an essential nutrient, and the DNA, as the carrier of genetic information which is physically compacted into chromosomes, are both needed for normal life and well-being. Therefore, it is not surprising that close interactions exist between iron and the genome. On the one hand, iron, especially when present in excess, may alter genome stability through oxidative stress, and may favor cell cycle abnormalities and the development of malignant diseases. The genome also receives a feedback signal from the systemic iron status, leading to promotion of expression of genes that regulate iron metabolism...
October 2017: Mutation Research
https://www.readbyqxmd.com/read/29158016/genetic-hemochromatosis-pathophysiology-diagnostic-and-therapeutic-management
#11
Pierre Brissot, Thibault Cavey, Martine Ropert, Pascal Guggenbuhl, Olivier Loréal
The term hemochromatosis (HC) corresponds to several diseases characterized by systemic iron overload of genetic origin and affecting both the quality of life and life expectancy. Major improvement in the knowledge of iron metabolism permits to divide these diseases into two main pathophysiological categories. For most HC forms (types 1, 2, 3 and 4B HC) iron overload is related to cellular hepcidin deprivation which causes an increase of plasma iron concentration and the appearance of plasma non-transferrin bound iron...
November 17, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/29154924/characterization-of-three-novel-pathogenic-slc40a1-mutations-and-genotype-phenotype-correlations-in-7-italian-families-with-type-4-hereditary-hemochromatosis
#12
Silvia Majore, Maria Carmela Bonaccorsi di Patti, Michele Valiante, Fabio Polticelli, Andrea Cortese, Sabrina Di Bartolomeo, Carmelilia De Bernardo, Marianna De Muro, Fiorella Faienza, Francesca Clementina Radio, Paola Grammatico, Giovanni Musci
Mutations of SLC40A1 encoding ferroportin (Fpn), the unique cellular iron exporter, severely affect iron homeostasis causing type 4 hereditary hemochromatosis, an autosomal dominant iron overload condition with variable phenotypic manifestations. This disease can be classified as type 4A, better known as "ferroportin disease", which is due to "loss of function" mutations that lead to decreased iron export from cells, or as type 4B hemochromatosis, which is caused by "gain of function" mutations, conferring partial or complete resistance to hepcidin-mediated Fpn degradation...
November 14, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29153377/iatrogenic-iron-overload-and-its-potential-consequences-in-patients-on-hemodialysis
#13
Guy Rostoker, Nosratola D Vaziri
Iron overload was considered rare in hemodialysis patients until recently, but its clinical frequency is now increasingly recognized. The liver is the main site of iron storage and the liver iron concentration (LIC) is closely correlated with total iron stores in patients with secondary hemosiderosis and genetic hemochromatosis. Magnetic resonance imaging (MRI) is now the gold standard method for estimating and monitoring LIC. Studies of LIC in hemodialysis patients by magnetic susceptometry thirteen years ago and recently by quantitative MRI have demonstrated a relation between the risk of iron overload and the use of intravenous (IV) iron products prescribed at doses determined by the iron biomarker cutoffs contained in current anemia management guidelines...
November 16, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/29150231/diagnosis-of-hyperferritinemia-in-routine-clinical-practice
#14
Bernard Lorcerie, Sylvain Audia, Maxime Samson, Aurélie Millière, Nicolas Falvo, Vanessa Leguy-Seguin, Sabine Berthier, Bernard Bonnotte
The discovery of hyperferritinemia is often fortuitous, revealed in results from a laboratory screening or follow-up test. The aim of the diagnostic procedure is therefore to identify its cause and to identify or rule out hepatic iron overload, in a three-stage process. In the first step, clinical findings and several simple laboratory tests are sufficient to detect four of the most frequent causes of high ferritin concentrations: alcoholism, inflammatory syndrome, cytolysis, and metabolic syndrome. None of these causes is associated with substantial hepatic iron overload...
November 14, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/29147843/iron-and-infection
#15
REVIEW
Tomas Ganz
Iron is an essential trace metal for nearly all infectious microorganisms, and host defense mechanisms target this dependence to deprive microbes of iron. This review highlights mechanisms that are activated during infections to restrict iron on mucosal surfaces, in plasma and extracellular fluid, and within macrophages. Iron overload disorders, such as hereditary hemochromatosis or β-thalassemia, interfere with iron-restrictive host responses, and thereby cause increased susceptibility to infections with microbes that can exploit this vulnerability...
November 16, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/29134618/the-mechanisms-of-systemic-iron-homeostasis-and-etiology-diagnosis-and-treatment-of-hereditary-hemochromatosis
#16
REVIEW
Hiroshi Kawabata
Hereditary hemochromatosis (HH) is a group of genetic iron overload disorders that manifest with various symptoms, including hepatic dysfunction, diabetes, and cardiomyopathy. Classic HH type 1, which is common in Caucasians, is caused by bi-allelic mutations of HFE. Severe types of HH are caused by either bi-allelic mutations of HFE2 that encodes hemojuvelin (type 2A) or HAMP that encodes hepcidin (type 2B). HH type 3, which is of intermediate severity, is caused by bi-allelic mutations of TFR2 that encodes transferrin receptor 2...
November 13, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/29129410/iron-metabolism-and-the-role-of-the-iron-regulating-hormone-hepcidin-in-health-and-disease
#17
Raed Daher, Hana Manceau, Zoubida Karim
Although iron is vital, its free form is likely to be involved in oxidation-reduction reactions, leading to the formation of free radicals and oxidative stress. Living organisms have developed protein systems to transport free iron through the cell membranes and biological fluids and store it in a non-toxic and readily mobilizable form to avoid iron toxicity. Hepcidin plays a crucial role in maintaining iron homeostasis. Hepcidin expression is directly regulated by variations in iron intake and its repression leads to an increase in bioavailable serum iron level...
November 9, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/29102415/hereditary-hemochromatosis-manifesting-after-treatment-of-paroxysmal-nocturnal-hemoglobinuria-with-eculizumab
#18
Elizabeth Elliott, Salman Waheed, Sahr Syed, Sheila Eswaran, Stephanie Gregory, Jamile Shammo
No abstract text is available yet for this article.
October 7, 2017: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/29101207/ferroportin-disease-pathogenesis-diagnosis-and-treatment
#19
REVIEW
Antonello Pietrangelo
Ferroportin Disease (FD) is an autosomal dominant hereditary iron loading disorder associated with heterozygote mutations of the ferroportin-1 (FPN) gene. It represents one of the commonest causes of genetic hyperferritinemia, regardless of ethnicity. FPN1 transfers iron from the intestine, macrophages and placenta into the bloodstream. In FD, loss-of-function mutations of FPN1 limit but do not impair iron export in enterocytes, but they do severely affect iron transfer in macrophages. This leads to progressive and preferential iron trapping in tissue macrophages, reduced iron release to serum transferrin (i...
December 2017: Haematologica
https://www.readbyqxmd.com/read/29099150/expanded-carrier-screening-in-gamete-donors-of-venezuela
#20
Maria Teresa Urbina, Isaac Benjamin, Randolfo Medina, José Jiménez, Laura Trías, Jorge Lerner
OBJECTIVE: To discuss the implications of expanded genetic carrier screening for preconception purposes based on our practice. METHODS: One hundred and forty-three potential gamete donors aged 20-32 years old (µ=24, 127 females and 16 males), signed informed consent forms and were selected according to the REDLARA guidelines. Blood or saliva samples were examined by one of these genetic carrier screening methods: Genzyme screening for Cystic Fibrosis (CF), Fragile X and Spinal Muscular Atrophy (SMA); Counsyl Universal panel or Recombine Carrier Map...
November 3, 2017: JBRA Assisted Reproduction
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