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Hemochromatosis

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https://www.readbyqxmd.com/read/28213472/%C3%AE-2-microglobulin-participates-in-development-of-lung-emphysema-by-inducing-lung-epithelial-cells-senescence
#1
Na Gao, Ying Wang, Chun-Ming Zheng, Yan-Li Gao, Hui Li, Yan Li, Ting-Ting Fu, Li-Li Xu, Wei Wang, Sun Ying, Kewu Huang
β2-microglobulin (β2m), the light chain of major histocompatibility complex class 1 (MHC I), has been identified as a pro-aging factors and involved in the pathogenesis of neurodegenerative disorders by driving cognitive and regenerative impairments. However, little attention has focused on the effect of β2m in development of lung emphysema. Here, we found that concentrations of β2m in plasma were significantly elevated in patients with lung emphysema than those in normal control subjects (1.89 ± 0.12 mg/l vs 1...
February 17, 2017: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/28211293/hfe-gene-mutation-and-iron-overload-in-egyptian-pediatric-acute-lymphoblastic-leukemia-survivors-a-single-center-study
#2
Farida H El-Rashedi, Mahmoud A El-Hawy, Sally M El-Hefnawy, Mona M Mohammed
BACKGROUND: Hereditary hemochromatosis gene (HFE) mutations have a role in iron overload in pediatric acute lymphoblastic leukemia (ALL) survivors. We aimed to evaluate the genotype frequency and allelic distribution of the two HFE gene mutations (C282Y and H63D) in a sample of Egyptian pediatric ALL survivors and to detect the impact of these two mutations on their iron profile. PATIENTS AND METHODS: This study was performed on 35 ALL survivors during their follow-up visits to the Hematology and Oncology Unit, Pediatric Department, Menoufia University Hospitals...
February 17, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28202542/m%C3%A3-ssbauer-spectra-of-mouse-hearts-reveal-age-dependent-changes-in-mitochondrial-and-ferritin-iron-levels
#3
Joshua D Wofford, Mrinmoy Chakrabarti, Paul Alan Lindahl
Cardiac function requires continuous high levels of energy, and so iron, a critical player in mitochondrial respiration, is an important component of the heart. Hearts from (57)Fe-enriched mice were evaluated by Mossbauer spectroscopy. Spectra consisted of a sextet and two quadrupole doublets. One doublet was due to residual blood while the other was due to [Fe4S4](2+) clusters and Fe(II) hemes, most of which were associated with mitochondrial respiration. The sextet was due to ferritin; there was no evidence of hemosiderin, a ferritin decomposition product...
February 15, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28195347/characterization-of-ferroptosis-in-murine-models-of-hemochromatosis
#4
Hao Wang, Peng An, Enjun Xie, Qian Wu, Xuexian Fang, Hong Gao, Zhuzhen Zhang, Yuzhu Li, Xudong Wang, Jiaying Zhang, Guoli Li, Lei Yang, Wei Liu, Junxia Min, Fudi Wang
Ferroptosis is a recently identified iron-dependent form of non-apoptotic cell death implicated in brain, kidney, and heart pathology. However, the biological roles of iron and iron metabolism in ferroptosis remain poorly understood. Here, we studied the functional role of iron and iron metabolism in the pathogenesis of ferroptosis. We found that ferric citrate potently induces ferroptosis in murine primary hepatocytes and bone marrow-derived macrophages (BMDMs). Next, we screened for ferroptosis in mice fed a high-iron diet and in mouse models of hereditary hemochromatosis with iron overload...
February 13, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28161201/neonatal-hemochromatosis-blitz-diagnosis-results-in-favorable-outcome
#5
Christiane Sokollik, Bianca Kreiter, Rainer Wolf
No abstract text is available yet for this article.
February 1, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28133557/secondary-hemochromatosis-due-to-chronic-oral-iron-supplementation
#6
Ronald Lands, Emmanuel Isang
Iron may accumulate in excess due to a mutation in the HFE gene that upregulates absorption or when it is ingested or infused at levels that exceed the body's ability to clear it. Excess iron deposition in parenchymal tissue causes injury and ultimately organ dysfunction. Diabetes mellitus and hepatic cirrhosis due to pancreas and liver damage are just two examples of diseases that result from iron overload. Despite the rapid growth of information regarding iron metabolism and iron overload states, the most effective treatment is still serial phlebotomies...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28129844/studying-disorders-of-vertebrate-iron-and-heme-metabolism-using-zebrafish
#7
Lisa N van der Vorm, Barry H Paw
Iron is a crucial component of heme- and iron-sulfur clusters, involved in vital cellular functions such as oxygen transport, DNA synthesis, and respiration. Both excess and insufficient levels of iron and heme-precursors cause human disease, such as iron-deficiency anemia, hemochromatosis, and porphyrias. Hence, their levels must be tightly regulated, requiring a complex network of transporters and feedback mechanisms. The use of zebrafish to study these pathways and the underlying genetics offers many advantages, among others their optical transparency, ex-vivo development and high genetic and physiological conservations...
2017: Methods in Cell Biology
https://www.readbyqxmd.com/read/28115312/females-are-protected-from-iron-overload-cardiomyopathy-independent-of-iron-metabolism-key-role-of-oxidative-stress
#8
Subhash K Das, Vaibhav B Patel, Ratnadeep Basu, Wang Wang, Jessica DesAulniers, Zamaneh Kassiri, Gavin Y Oudit
BACKGROUND: Sex-related differences in cardiac function and iron metabolism exist in humans and experimental animals. Male patients and preclinical animal models are more susceptible to cardiomyopathies and heart failure. However, whether similar differences are seen in iron-overload cardiomyopathy is poorly understood. METHODS AND RESULTS: Male and female wild-type and hemojuvelin-null mice were injected and fed with a high-iron diet, respectively, to develop secondary iron overload and genetic hemochromatosis...
January 23, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28111337/worse-outcomes-of-patients-with-hfe-hemochromatosis-with-persistent-increases-in-transferrin-saturation-during-maintenance-therapy
#9
Edouard Bardou-Jacquet, Fabrice Lainé, Pascal Guggenbuhl, Jeff Morcet, Caroline Jézéquel, Dominique Guyader, Romain Moirand, Yves Deugnier
BACKGROUND & AIMS: Even if patients with hemochromatosis maintain low serum levels of ferritin, they still have an increased risk of general and joint symptoms, which reduce quality of life. This could be related to persistently increased transferrin saturation. We assessed whether duration of exposure to increased transferrin saturation during maintenance therapy is associated with more severe general and joint symptoms. METHODS: We performed a longitudinal cohort study of 266 individuals homozygous for the C282Y substitution in HFE, seen at a tertiary reference center in Rennes, France, and followed for 3 or more years after initial iron removal...
January 19, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28096133/regulation-of-the-iron-homeostatic-hormone-hepcidin
#10
REVIEW
Veena Sangkhae, Elizabeta Nemeth
Iron is required for many biological processes but is also toxic in excess; thus, body iron balance is maintained through sophisticated regulatory mechanisms. The lack of a regulated iron excretory mechanism means that body iron balance is controlled at the level of absorption from the diet. Iron absorption is regulated by the hepatic peptide hormone hepcidin. Hepcidin also controls iron release from cells that recycle or store iron, thus regulating plasma iron concentrations. Hepcidin exerts its effects through its receptor, the cellular iron exporter ferroportin...
January 2017: Advances in Nutrition
https://www.readbyqxmd.com/read/28092202/is-dna-testing-for-hemochromatosis-diagnosis-reliable
#11
Paul C Adams
No abstract text is available yet for this article.
March 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28081023/a-case-study-of-hemochromatosis-and-conflicting-point-shear-wave-measurements-in-the-assessment-of-liver-fibrosis
#12
Tal Cohen, Richard G Barr
There are multiple factors that affect the shear wave speed in the assessment of liver stiffness. In this case report, we present a case of hemochromatosis that has elevated liver stiffness suggestive of significant fibrosis or cirrhosis; however on liver biopsy, no fibrosis was identified. This article will discuss the possibility that liver iron deposition may affect SWE measurements of the liver, leading to inaccurate assessment of liver fibrosis. In these cases, a liver biopsy may be required for accurate liver assessment...
January 9, 2017: Ultrasound Quarterly
https://www.readbyqxmd.com/read/28067690/iron-overload-in-the-liver-of-2-children-nonalcoholic-steatohepatitis-and-juvenile-hemochromatosis
#13
Aysel Ünlüsoy Aksu, Angela Caleffi, Antonello Pietrangelo, Sinan Sari, Ödül Eğritaş Gürkan, Zeliha Demirtaş, Güldal Yilmaz, Buket Dalgiç
BACKGROUND: Iron overload disorders are hereditary hemochromatosis and secondary etiologies other than hereditary hemochromatosis. We describe 2 boys presenting with iron overload. Juvenile hemochromatosis and nonalcoholic steatohepatitis (NASH) related iron overload are the genetic and secondary causes, respectively. OBSERVATIONS: Both patients benefited from phlebotomy even if they had different etiologies. CONCLUSIONS: In childhood, the diagnosis of iron overload syndromes is crucial because they do not confront us with obvious symptoms and findings...
January 6, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28034447/c282y-h63d-hemochromatosis-mutations-and-microevolution-speculations-concerning-the-basque-population
#14
F Bauduer
The Basques live at the Western extremity of the Pyrenees. According to linguistic and genetic data they could be considered as one of the most ancient European populations. Numerous studies have evidenced particular patterns in the frequency of several genetic polymorphisms in this relatively unmixed human group. We discuss herein the puzzling distribution of the two major hemochromatosis HFE mutations associated with hereditary hemochromatosis. Thus, one can observe a low frequency of C282Y and, in contrast, one of the highest European frequencies of H63D...
January 2017: Homo: Internationale Zeitschrift Für die Vergleichende Forschung Am Menschen
https://www.readbyqxmd.com/read/28007423/rgms-structural-insights-molecular-regulation-and-downstream-signaling
#15
REVIEW
Christian Siebold, Toshihide Yamashita, Philippe P Monnier, Bernhard K Mueller, R Jeroen Pasterkamp
Although originally discovered as neuronal growth cone-collapsing factors, repulsive guidance molecules (RGMs) are now known as key players in many fundamental processes, such as cell migration, differentiation, iron homeostasis, and apoptosis, during the development and homeostasis of many tissues and organs, including the nervous, skeletal, and immune systems. Furthermore, three RGMs (RGMa, RGMb/DRAGON, and RGMc/hemojuvelin) have been linked to the pathogenesis of various disorders ranging from multiple sclerosis (MS) to cancer and juvenile hemochromatosis (JHH)...
December 19, 2016: Trends in Cell Biology
https://www.readbyqxmd.com/read/27995906/acg-clinical-guideline-evaluation-of-abnormal-liver-chemistries
#16
Paul Y Kwo, Stanley M Cohen, Joseph K Lim
Clinicians are required to assess abnormal liver chemistries on a daily basis. The most common liver chemistries ordered are serum alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase and bilirubin. These tests should be termed liver chemistries or liver tests. Hepatocellular injury is defined as disproportionate elevation of AST and ALT levels compared with alkaline phosphatase levels. Cholestatic injury is defined as disproportionate elevation of alkaline phosphatase level as compared with AST and ALT levels...
January 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/27994488/an-unfortunate-case-of-acquired-hemochromatosis-a-case-report-review-of-the-clinical-presentation-diagnosis-management-and-prognosis
#17
Anam Tariq, Kevin Westra, Arben Santo
BACKGROUND: While blood transfusions are commonly used for prophylaxis and treatment for acute chest syndromes and strokes in sickle cell patients, accumulation of excess iron resulting in secondary hemochromatosis remains a rare disease. Chelation is the mainstay for preventing and treating iron overload to deter potential end-organ damages; it is rare when therapy fails. CASE REPORT: A 52-year-old African American woman with chronic anemia secondary to sickle cell anemia and history of multiple blood transfusions presented with elevated serum ferritin (8000 ng/mL) and bilirubin (16...
2016: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/27981269/dental-pigmentation-and-hemochromatosis-a-case-report
#18
Mayra Schemel-Suárez, José López-López, Eduardo Chimenos-Küstner
The causes of dental pigmentation are diverse. It can be classified in intrinsic or extrinsic depending on the origin and location of the stain in the affected tooth. This report presents an unusual case of dental pigmentation and enamel loss where the diagnosis of its origin revealed an underlying systemic pathology, unknown to the patient, which could have affected the development of the pigmentation.
December 15, 2016: Quintessence International
https://www.readbyqxmd.com/read/27936457/genetic-disruption-of-nrf2-promotes-the-development-of-necroinflammation-and-liver-fibrosis-in-a-mouse-model-of-hfe-hereditary-hemochromatosis
#19
Tiago L Duarte, Carolina Caldas, Ana G Santos, Sandro Silva-Gomes, Andreia Santos-Gonçalves, Maria João Martins, Graça Porto, José Manuel Lopes
BACKGROUND AND AIMS: In hereditary hemochromatosis, iron deposition in the liver parenchyma may lead to fibrosis, cirrhosis and hepatocellular carcinoma. Most cases are ascribed to a common mutation in the HFE gene, but the extent of clinical expression is greatly influenced by the combined action of yet unidentified genetic and/or environmental modifying factors. In mice, transcription factor NRF2 is a critical determinant of hepatocyte viability during exposure to acute dietary iron overload...
December 1, 2016: Redox Biology
https://www.readbyqxmd.com/read/27933629/accepting-hereditary-hemochromatosis-blood-donors-ask-not-why-ask-why-not
#20
EDITORIAL
Kamille A West, Anne F Eder
No abstract text is available yet for this article.
December 2016: Transfusion
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