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hereditary hemochromatosis

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https://www.readbyqxmd.com/read/29301508/quality-of-life-scores-differs-between-genotypic-groups-of-patients-with-suspected-hereditary-hemochromatosis
#1
Paula Fernanda Silva Fonseca, Rodolfo Delfini Cançado, Flavio Augusto Naoum, Carla Luana Dinardo, Guilherme Henrique Hencklain Fonseca, Sandra Fatima Menosi Gualandro, José Eduardo Krieger, Alexandre Costa Pereira, Pierre Brissot, Paulo Caleb Junior Lima Santos
BACKGROUND: Hereditary hemochromatosis (HH) encompasses a group of autosomal recessive disorders mainly characterized by enhanced intestinal absorption of iron and its accumulation in parenchymal organs. HH diagnosis is based on iron biochemical and magnetic resonance imaging (MRI) assessment, and genetic testing. Questionnaires, such as SF-36 (short form health survey), have been increasingly used to assess the impact of diseases on the patient's quality of life (QL). In addition, different genotypes are identified as results of genetic tests in patients with suspected primary iron overload...
January 5, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29237594/structure-function-analysis-of-ferroportin-defines-the-binding-site-and-an-alternative-mechanism-of-action-of-hepcidin
#2
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
#3
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
#4
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
#5
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/29201641/iron-related-gene-variants-and-brain-iron-in-multiple-sclerosis-and-healthy-individuals
#6
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
#7
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/29154924/characterization-of-three-novel-pathogenic-slc40a1-mutations-and-genotype-phenotype-correlations-in-7-italian-families-with-type-4-hereditary-hemochromatosis
#8
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/29150231/diagnosis-of-hyperferritinemia-in-routine-clinical-practice
#9
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
#10
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
#11
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/29102415/hereditary-hemochromatosis-manifesting-after-treatment-of-paroxysmal-nocturnal-hemoglobinuria-with-eculizumab
#12
Elizabeth Elliott, Salman Waheed, Sahr Syed, Sheila Eswaran, Stephanie Gregory, Jamile Shammo
No abstract text is available yet for this article.
January 2018: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/29101207/ferroportin-disease-pathogenesis-diagnosis-and-treatment
#13
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/29070551/current-understanding-of-iron-homeostasis
#14
REVIEW
Gregory J Anderson, David M Frazer
Iron is an essential trace element, but it is also toxic in excess, and thus mammals have developed elegant mechanisms for keeping both cellular and whole-body iron concentrations within the optimal physiologic range. In the diet, iron is either sequestered within heme or in various nonheme forms. Although the absorption of heme iron is poorly understood, nonheme iron is transported across the apical membrane of the intestinal enterocyte by divalent metal-ion transporter 1 (DMT1) and is exported into the circulation via ferroportin 1 (FPN1)...
December 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29055997/-a-case-of-hereditary-hemochromatosis
#15
H X Xu, L M Liang, J S Zheng, B Duan, G L Chen, Z H Zhang, J Wang
No abstract text is available yet for this article.
July 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/28987255/genetic-testing-in-liver-disease-what-to-order-in-whom-and-when
#16
REVIEW
Emily A Schonfeld, Robert S Brown
Genetic causes of liver disease lead to a wide range of presentations, from mildly abnormal liver tests to acute liver failure. This article discusses the indications for testing and what to test for hereditary hemochromatosis, progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis, lysosomal acid lipase deficiency, Gilbert syndrome, alpha-1 antitrypsin deficiency, and Wilson disease.
November 2017: Clinics in Liver Disease
https://www.readbyqxmd.com/read/28981372/a-novel-approach-to-improving-utilization-of-laboratory-testing
#17
Yaolin Zhou, Gary W Procop, Jacquelyn D Riley
CONTEXT: - The incorporation of best practice guidelines into one's institution is a challenging goal of utilization management, and the successful adoption of such guidelines depends on institutional context. Laboratorians who have access to key clinical data are well positioned to understand existing local practices and promote more appropriate laboratory testing. OBJECTIVE: - To apply a novel approach to utilization management by reviewing international clinical guidelines and current institutional practices to create a reliable mechanism to improve detection and reduce unnecessary tests in our patient population...
October 5, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28978826/progress-in-iron-metabolism-research
#18
Hiroshi Kawabata
Iron is essential for various cellular processes, but an excess of iron may cause organ damage through the production of reactive oxygen species. Therefore, the amount of iron in the body must be strictly controlled. The central regulator of systemic iron homeostasis is hepcidin, which is primarily produced in the liver. Various molecules, including HFE, transferrin receptor 2 (TFR2), and hemojuvelin (HJV), are involved in sensing systemic iron status. Hepatocytes produce hepcidin in response to excess iron and inflammatory stimuli (e...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28975833/the-role-of-diagnosis-and-treatment-of-underlying-liver-disease-for-the-prognosis-of-primary-liver-cancer
#19
Ashok Shiani, Shreya Narayanan, Luis Pena, Mark Friedman
Hepatocellular carcinoma (HCC) is the third leading cause of cancer-related deaths worldwide. Underlying chronic liver disease has been associated with an increased risk of developing HCC. This study is a review of the current literature regarding the diagnosis, prognostic significance, and role of treating underlying liver disease in patients who are at risk of primary liver cancer. Relevant peer review of the English literature between 1980 and 2017 within PubMed and the Cochrane library was conducted for scientific content on current advances in managing chronic liver diseases and the development of hepatocellular carcinoma...
July 2017: Cancer Control: Journal of the Moffitt Cancer Center
https://www.readbyqxmd.com/read/28965885/iron-supplementation-in-mouse-expands-cellular-innate-defences-in-spleen-and-defers-lethal-malaria-infection
#20
Isabel G Azcárate, Sandra Sánchez-Jaut, Patricia Marín-García, María Linares, Susana Pérez-Benavente, Marta García-Sánchez, Javier Uceda, Ali N Kamali, María-Josefa Morán-Jiménez, Antonio Puyet, Amalia Diez, José M Bautista
The co-endemicity of malnutrition, erythrocytopathies, transmissible diseases and iron-deficiency contribute to the prevalence of chronic anaemia in many populations of the developing world. Although iron dietary supplementation is applied or recommended in at risk populations, its use is controversial due to undesirable outcomes, particularly regarding the response to infections, including highly prevalent malaria. We hypothesized that a boosted oxidative stress due to iron supplementation have a similar impact on malaria to that of hereditary anaemias, enhancing innate response and conditioning tissues to prevent damage during infection...
September 29, 2017: Biochimica et Biophysica Acta
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