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Iron disorders

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https://www.readbyqxmd.com/read/29155855/iron-status-and-anaemia-in-sri-lankan-secondary-school-children-a-cross-sectional-survey
#1
Angela Allen, Stephen Allen, Rexan Rodrigo, Lakshman Perera, Wei Shao, Chao Li, Duolao Wang, Nancy Olivieri, David J Weatherall, Anuja Premawardhena
BACKGROUND: Iron deficiency, the most common micronutrient disorder and cause of anaemia globally, impairs growth, cognition, behaviour and resistance to infection. METHODS/RESULTS: As part of a national survey of inherited haemoglobin variants in 7526 students from 72 secondary schools purposefully selected from the 25 districts of Sri Lanka, we studied 5912 students with a normal haemoglobin genotype. Median age was 16.0 (IQR 15.0-17.0) years and 3189 (53.9%) students were males...
2017: PloS One
https://www.readbyqxmd.com/read/29152226/an-overview-of-the-cutaneous-porphyrias
#2
REVIEW
Robert Dawe
This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature. The cutaneous porphyrias are a diverse group of conditions due to inherited or acquired enzyme defects in the porphyrin-haem biosynthetic pathway. All the cutaneous porphyrias can have (either as a consequence of the porphyria or as part of the cause of the porphyria) involvement of other organs as well as the skin...
2017: F1000Research
https://www.readbyqxmd.com/read/29147843/iron-and-infection
#3
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/29147753/defective-wnt-signaling-associates-with-bone-marrow-fibrosis-a-cross-sectional-cohort-study-in-a-family-with-wnt1-osteoporosis
#4
R E Mäkitie, R Niinimäki, S Kakko, T Honkanen, P E Kovanen, O Mäkitie
This study explores bone marrow function in patients with defective WNT1 signaling. Bone marrow samples showed increased reticulin and altered granulopoiesis while overall hematopoiesis was normal. Findings did not associate with severity of osteoporosis. These observations provide new insight into the role of WNT signaling in bone marrow homeostasis. INTRODUCTION: WNT signaling regulates bone homeostasis and survival and self-renewal of hematopoietic stem cells. Aberrant activation may lead to osteoporosis and bone marrow pathology...
November 16, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/29147080/effect-of-the-ginger-derivative-6-shogaol-on-ferritin-levels-in-patients-with-low-to-intermediate-1-risk-myelodysplastic-syndrome-a-small-investigative-study
#5
Terry Golombick, Terrence H Diamond, Arumugam Manoharan, Rajeev Ramakrishna, Vladimir Badmaev
Background: Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal stem cell disorders characterized by dysplastic and ineffective hematopoiesis and peripheral cytopenias. Elevated serum ferritin (SF) is often observed in nontransfused, lower risk MDS. It has been reported that ineffective erythropoiesis enhances iron absorption in MDS through downregulation of hepcidin and its prohormones such that SF rises. Aim: To determine the effect of 6-shogaol, a dehydration derivative of ginger, known to have hepatoprotective and chemotherapeutic activity, on 6 early-stage, transfusion-independent patients with MDS, 3 of whom had raised levels of SF...
2017: Clinical Medicine Insights. Blood Disorders
https://www.readbyqxmd.com/read/29142764/determining-nt-probnp-levels-with-diastolic-dysfunction-in-thalassemia-major-patients
#6
Mable Misha Singh, Ravindra Kumar, Satyendra Tewari, Sarita Agarwal
Beta thalassemia is an autosomal, recessive disorder, characterized by ineffective erythropoiesis. Chronic transfusions and inability of body to eliminate iron lead to an iron overload, thereby causing damage to heart. Natriuretic peptides (NPs) are produced within the heart, which are then released into the circulation in response to ventricular wall stress. We, therefore, aimed to study the relation between ventricular dysfunction and N-terminal pro-B-type natriuretic peptides (NT-proBNPs). We enrolled 105 patients with increased serum ferritin levels and echocardiography was performed...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29139060/iron-metabolism-in-erythroid-cells-and-patients-with-congenital-sideroblastic-anemia
#7
REVIEW
Kazumichi Furuyama, Kiriko Kaneko
Sideroblastic anemias are anemic disorders characterized by the presence of ring sideroblasts in a patient's bone marrow. These disorders are typically divided into two types, congenital or acquired sideroblastic anemia. Recently, several genes were reported as responsible for congenital sideroblastic anemia; however, the relationship between the function of the gene products and ring sideroblasts is largely unclear. In this review article, we will focus on the iron metabolism in erythroid cells as well as in patients with congenital sideroblastic anemia...
November 14, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/29136618/hepcidin-in-iron-homeostasis-diagnostic-and-therapeutic-implications-in-type-2-diabetes-mellitus-patients
#8
Sintayehu Ambachew, Belete Biadgo
The prevalence of type 2 diabetes is increasing in epidemic proportions worldwide. Evidence suggests body iron overload is frequently linked and observed in patients with type 2 diabetes. Body iron metabolism is based on iron conservation and recycling by which only a part of the daily need is replaced by duodenal absorption. The principal liver-produced peptide called hepcidin plays a fundamental role in iron metabolism. It directly binds to ferroportin, the sole iron exporter, resulting in the internalization and degradation of ferroportin...
November 15, 2017: Acta Haematologica
https://www.readbyqxmd.com/read/29136419/occupational-exposure-to-manganese-and-fine-motor-skills-in-elderly-men-results-from-the-heinz-nixdorf-recall-study
#9
Beate Pesch, Swaantje Casjens, Tobias Weiss, Benjamin Kendzia, Marina Arendt, Lewin Eisele, Thomas Behrens, Nadin Ulrich, Noreen Pundt, Anja Marr, Sibylle Robens, Christoph Van Thriel, Rainer Van Gelder, Michael Aschner, Susanne Moebus, Nico Dragano, Thomas Brüning, Karl-Heinz Jöckel
Objectives: Exposure to manganese (Mn) may cause movement disorders, but less is known whether the effects persist after the termination of exposure. This study investigated the association between former exposure to Mn and fine motor deficits in elderly men from an industrial area with steel production. Methods: Data on the occupational history and fine motor tests were obtained from the second follow-up of the prospective Heinz Nixdorf Recall Study (2011-2014)...
November 10, 2017: Annals of Work Exposures and Health
https://www.readbyqxmd.com/read/29136024/severe-oxidative-stress-in-an-acute-inflammatory-demyelinating-model-in-the-rhesus-monkey
#10
Jordon Dunham, Reinofke van de Vis, Jan Bauer, Jacqueline Wubben, Nikki van Driel, Jon D Laman, Bert A 't Hart, Yolanda S Kap
Oxidative stress is increasingly implicated as a co-factor of tissue injury in inflammatory/demyelinating disorders of the central nervous system (CNS), such as multiple sclerosis (MS). While rodent experimental autoimmune encephalomyelitis (EAE) models diverge from human demyelinating disorders with respect to limited oxidative injury, we observed that in a non-human primate (NHP) model for MS, namely EAE in the common marmoset, key pathological features of the disease were recapitulated, including oxidative tissue injury...
2017: PloS One
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/29134606/intravenous-ferric-carboxymaltose-in-patients-with-type-2-diabetes-mellitus-and-iron-deficiency-clever-trial-study-design-and-protocol
#12
Christoph Schindler, Andreas L Birkenfeld, Markolf Hanefeld, Ulrike Schatz, Carsta Köhler, Martin Grüneberg, Diethelm Tschöpe, Matthias Blüher, Christoph Hasslacher, Stefan R Bornstein
INTRODUCTION: HbA1c is the gold standard for glycemic control in pre-diabetes and diabetes. However, its validity has been questioned, especially in the presence of imbalanced iron homeostasis. The CLEVER trial aims to evaluate the relationship between iron deficiency and HbA1c (a biomarker for the diagnosis and therapeutic monitoring of type 2 diabetes) in a randomized, placebo-controlled, multicenter clinical trial. METHODS: The CLEVER (intravenous ferric CarboxymaLtosE for improVement of mEtabolic parameters in type 2 diabetes patients with iRon deficiency) trial is a randomized, single-blind, proof-of-concept study with two treatment arms...
November 13, 2017: Diabetes Therapy: Research, Treatment and Education of Diabetes and related Disorders
https://www.readbyqxmd.com/read/29133084/mri-for-the-measurement-of-liver-iron-content-and-for-the-diagnosis-and-follow-up-of-iron-overload-disorders
#13
Anita Paisant, Gaspard d'Assignies, Elise Bannier, Edouard Bardou-Jacquet, Yves Gandon
MRI is now the reference method for detecting and quantifying hepatic and extrahepatic iron overload, regardless of its cause. The decrease of the hepatic signal is proportional to the amount of iron in the tissues. It is more pronounced with T2*-weighted gradient echo sequences. It increases proportionally with the strength of the magnetic field. Thus a 3-T MRI is be more sensitive and probably more accurate to detect a slight iron overload, as seen in dysmetabolic hepatosiderosis. Conversely, a 1.5-T MRI better estimates a high overload...
November 10, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/29131773/update-on-cardiovascular-applications-of-multienergy-ct
#14
Kevin Kalisz, Sandra Halliburton, Suhny Abbara, Jonathon A Leipsic, Moritz H Albrecht, U Joseph Schoepf, Prabhakar Rajiah
Advances in scanner technology enabling shorter scan times, improvements in spatial and temporal resolution, and more dose-efficient data reconstruction coupled with rapidly growing evidence from clinical trials have established computed tomography (CT) as an important imaging modality in the evaluation of cardiovascular disorders. Multienergy (or spectral or dual-energy) CT is a relatively recent advance in which attenuation data from different energies are used to characterize materials beyond what is possible at conventional CT...
November 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29127682/genome-editing-for-the-%C3%AE-hemoglobinopathies
#15
Matthew H Porteus
The β-hemoglobinopathies are diverse set of disorders caused by mutations in the β-globin (HBB) gene. Because HBB protein is a critical component (along with α-globin, heme, and iron) of hemoglobin, the molecule essential for oxygen delivery to tissues, mutations in HBB can result in lethal diseases or diseases with multi-organ dysfunction. HBB mutations can be roughly divided into two categories: those that cause a dysfunctional protein (such as sickle cell disease but also including varied diseases caused by high-affinity hemoglobins, low-affinity hemoglobins, and methemoglobinemia) and those that cause the insufficient production of HBB protein (β-thalassemia)...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29124856/comparison-of-anthropometrical-parameters-and-dietary-habits-of-young-women-with-and-without-menstrual-disorders
#16
Karolina Łagowska, Daria Kazmierczak, Katarzyna Szymczak
AIM: The aim of this study was to assess the nutritional status and dietary habits of young women, in order to explore their relationship with the menstrual cycle and to determine the proportion of women with menstrual cycle irregularities. METHODS: A total of 348 young women aged 15-25 years (19.7 ± 3.7 years) participated in the study and were assigned to a younger group (15-18 years; YG) or an older group (19-25 years; OG). Two subgroups were also distinguished: women with menstrual disorders (MD) and women with regular cycles (RC)...
November 10, 2017: Nutrition & Dietetics: the Journal of the Dietitians Association of Australia
https://www.readbyqxmd.com/read/29120023/role-of-liver-magnetic-resonance-imaging-in-hyperferritinaemia-and-the-diagnosis-of-iron-overload
#17
Axel Ruefer, Christine Bapst, Rudolf Benz, Jens Bremerich, Nathan Cantoni, Laura Infanti, Kaveh Samii, Mathias Schmid, Jean-Paul Vallée
Hyperferritinaemia is a frequent clinical problem. Elevated serum ferritin levels can be detected in different genetic and acquired diseases and can occur with or without anaemia. It is therefore important to determine whether hyperferritinaemia is due to iron overload or due to a secondary cause. The main causes of iron overload are intestinal iron hyperabsorption disorders and transfusion-dependent disorders. Iron homeostasis and iron overload are quantified by different diagnostic approaches. The evaluation of serum ferritin and transferrin saturation is the first diagnostic step to identify the cause of hyperferritinaemia...
November 9, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29118026/carbon-monoxide-in-lung-cell-physiology-and-disease
#18
Stefan W Ryter, Kevin C Ma, Augustine M K Choi
Carbon monoxide (CO) is an endogenously produced gas that has gained recognition as a biological signal transduction effector with properties similar, but not identical, to that of nitric oxide (NO). CO, which binds primarily to heme iron, may activate the hemoprotein guanylate cyclase (sGC), although with lower potency than NO. Furthermore, CO can modulate the activities of several cellular signaling molecules such as p38 MAPK, ERK1/2, JNK, AKT, NF-κB, and others. Emerging studies suggest that mitochondria, the energy-generating organelle of cells, represent a key target of CO action in eukaryotes...
November 8, 2017: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/29114205/biometal-dyshomeostasis-and-toxic-metal-accumulations-in-the-development-of-alzheimer-s-disease
#19
REVIEW
Yong Li, Qian Jiao, Huamin Xu, Xixun Du, Limin Shi, Fengju Jia, Hong Jiang
Biometal dyshomeostasis and toxic metal accumulation are common features in many neurodegenerative disorders, including Alzheimer's disease (AD), Parkinson's disease, and Huntington's disease. The neurotoxic effects of metal imbalance are generally associated with reduced enzymatic activities, elevated protein aggregation and oxidative stress in the central nervous system, in which a cascade of events lead to cell death and neurodegeneration. Although the links between biometal imbalance and neurodegenerative disorders remain elusive, a major class of endogenous proteins involved in metal transport has been receiving increasing attention over recent decades...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29113455/hdac1-governs-iron-homeostasis-independent-of-histone-deacetylation-in-iron-overload-murine-models
#20
Xiangju Yin, Qian Wu, Jitender Monga, Enjun Xie, Hao Wang, Shufen Wang, Huizhen Zhang, Zhan-You Wang, Tianhua Zhou, Yunjun Shi, Jack Rogers, Hening Lin, Junxia Min, Fudi Wang
AIMS: Iron overload disorders are common and could lead to significant morbidity and mortality worldwide. Due to limited treatment options, there is a great need to develop novel strategies to remove the excess body iron. To discover potential epigenetic modulator in hepcidin upregulation and subsequently decreasing iron burden, we performed an epigenetic screen. The in vivo effects of the identified compounds were further tested in iron-overload mouse models, including Hfe-/-, Hjv-/- and hepatocyte-specific Smad4 knockout (Smad4fl/fl;Alb-Cre+) mice...
November 7, 2017: Antioxidants & Redox Signaling
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