10,447 results match your criteria Hemochromatosis


Evaluating the association of serum ferritin and hepatic iron with disease severity in non-alcoholic fatty liver disease.

Liver Int 2019 Mar 9. Epub 2019 Mar 9.

Division of Internal Medicine 2 and Center for Hemochromatosis, University of Modena and Reggio Emilia, Modena, Italy.

Background And Aims: Hyperferritinemia, with or without increased hepatic iron, represents a common finding in non-alcoholic fatty liver disease (NAFLD). However, it is unclear whether it reflects hepatic inflammation or true iron-overload and, in case the latter is confirmed, whether this influences disease progression. We therefore explored the association between serum ferritin, degree and pattern of hepatic iron deposition and liver disease severity in patients with NAFLD. Read More

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http://dx.doi.org/10.1111/liv.14096DOI Listing
March 2019
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Influence of hereditary hemochromatosis on left ventricular wall thickness: does iron overload exacerbate cardiac hypertrophy?

Folia Morphol (Warsz) 2019 Mar 5. Epub 2019 Mar 5.

Department of Cardiology and Electrotherapy, Medical University of Gdańsk, Poland.

Background: The left ventricular (LV) hypertrophy increases the risk of heart failure. Hypertension and infiltrative cardiomyopathies are the well-known reasons of LV hypertrophy. The growing interest of scientists in this issue affects hereditary hemochromatoris (HH), which characterizes by the excess deposition of iron mostly due to HFE gene mutation. Read More

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http://dx.doi.org/10.5603/FM.a2019.0025DOI Listing

[Value of liver biopsy in the diagnosis of hereditary hemochromatosis].

Arkh Patol 2019 ;81(1):35-39

I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia, Moscow, Russia.

The paper gives an update on the pathogenesis and main clinical manifestations of primary (hereditary) hemochromatosis and its diagnostic methods. It emphasizes the importance of genetic research in the diagnosis of the disease. Its clinical manifestations are associated with iron deposition in organs, such as the liver, pancreas, joints, skin, and heart. Read More

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http://dx.doi.org/10.17116/patol20198101135DOI Listing
January 2019

Iron overload in congenital haemolytic anaemias: role of hepcidin and cytokines and predictive value of ferritin and transferrin saturation.

Br J Haematol 2019 Mar 3. Epub 2019 Mar 3.

Dipartimento di Scienze Cliniche e Comunità, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico - Università degli studi di Milano, Milano, Italy.

Iron overload (IO) is poorly investigated in the congenital haemolytic anaemias (CHAs), a heterogeneous group of rare inherited diseases encompassing abnormalities of the erythrocyte membrane and metabolism, and defects of the erythropoiesis. In this study we systematically evaluated routine iron parameters and cardiac and hepatic magnetic resonance imaging, together with erythropoietin, hepcidin, non-transferrin bound iron (NTBI), and cytokine serum levels in patients with different CHAs. We found that 40% of patients had a liver iron concentration (LIC) >4 mg Fe/g dry weight. Read More

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http://dx.doi.org/10.1111/bjh.15811DOI Listing

The p.H63D allele of the HFE gene protects against low iron stores in Sri Lanka.

Blood Cells Mol Dis 2019 May 20;76:72-77. Epub 2019 Feb 20.

MRC Molecular Hematology Unit, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.

In hereditary hemochromatosis, iron overload is associated with homozygosity for the p.C282Y mutation. A second mutation, p. Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.02.004DOI Listing
May 2019
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Comprehensive analysis of gene in hereditary hemochromatosis and in diseases associated with acquired iron overload.

World J Hepatol 2019 Feb;11(2):186-198

Division of Clinical Immunology, Department of Medicine, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto 14048-900, Brazil.

Background: Patients with hepatitis C virus (HCV) and hepatocellular carcinoma (HCC) may or not develop iron overload (IO), which is associated with worst prognosis, because can cause serious damage to organs. gene controls the iron uptake from gut, particularly in patients with hereditary hemochromatosis (HH).

Aim: To identify associations between coding region in patients exhibiting hereditary hemochromatosis and in diseases associated with acquired IO. Read More

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https://www.wjgnet.com/1948-5182/full/v11/i2/186.htm
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http://dx.doi.org/10.4254/wjh.v11.i2.186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393716PMC
February 2019
1 Read

A gene-based recessive diplotype exome scan discovers , a novel hepcidin-regulating iron metabolism gene.

Blood 2019 Feb 27. Epub 2019 Feb 27.

Center for Human Genetics, Marshfield Clinic Research Institute, Marshfield, WI, United States;

Standard analyses applied to genome-wide association data are well-designed to detect additive effects of moderate strength. However, the power for standard GWAS analyses to identify effects from recessive diplotypes is not typically high. We proposed and conducted a gene-based compound heterozygosity test to reveal additional genes underlying complex diseases. Read More

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http://dx.doi.org/10.1182/blood-2018-10-879585DOI Listing
February 2019
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A short report: Reflective testing in the diagnosis of hereditary haemochromatosis: Results of a short retrospective study.

Ann Clin Biochem 2019 Feb 27:4563219827614. Epub 2019 Feb 27.

York Teaching Hospitals NHS Foundation Trust, York, UK.

Background: Reflective addition of iron studies to elevated ferritin results can be a useful first step towards making a diagnosis of haemochromatosis; however, the criteria for doing so are poorly defined and the efficiency of different stages of this process are not well documented. We studied the efficiency of current practice at York Teaching Hospitals NHS Foundation Trust with the aim to identify areas for improvement.

Methods: Data were gathered from the laboratory database on the number of iron studies and subsequent interpretive comments reflectively added by laboratory staff during an eight-month period. Read More

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http://dx.doi.org/10.1177/0004563219827614DOI Listing
February 2019
2 Reads

Hepcidin and the BMP-SMAD pathway: An unexpected liaison.

Vitam Horm 2019 10;110:71-99. Epub 2019 Feb 10.

Regulation of Iron Metabolism Unit, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milano, Italy.

Hepcidin, the main regulator of iron metabolism, is synthesized and released by hepatocytes in response to increased body iron concentration and inflammation. Deregulation of hepcidin expression is a common feature of genetic and acquired iron disorders: in Hereditary Hemochromatosis (HH) and iron-loading anemias low hepcidin causes iron overload, while in Iron Refractory Iron Deficiency Anemia (IRIDA) and anemia of inflammation (AI), high hepcidin levels induce iron-restricted erythropoiesis. Hepcidin expression in the liver is mainly controlled by the BMP-SMAD pathway, activated in a paracrine manner by BMP2 and BMP6 produced by liver sinusoidal endothelial cells. Read More

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http://dx.doi.org/10.1016/bs.vh.2019.01.004DOI Listing
February 2019
2 Reads

Hepcidin, iron, and bacterial infection.

Vitam Horm 2019 5;110:223-242. Epub 2019 Feb 5.

Southern Iron Disorders Center, Birmingham, AL, United States; Department of Microbiology, University of Alabama at Birmingham, Birmingham, AL, United States.

Hepcidin, an oligopeptide, has two major functions in mammals. Hepcidin regulates iron homeostasis by controlling iron export from absorptive enterocytes, hepatocytes, and macrophages into the circulation via ferroportin inactivation. Hepcidin is also an innate antimicrobial agent that is induced by invasive bacteria, limits bacterial proliferation by reducing iron in plasma and extracellular fluids, and kills bacteria. Read More

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http://dx.doi.org/10.1016/bs.vh.2019.01.011DOI Listing
February 2019
1 Read

Hemochromatosis: Hereditary hemochromatosis and HFE gene.

Vitam Horm 2019 8;110:201-222. Epub 2019 Feb 8.

Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, School of Health Sciences, National and Kapodistrian University of Athens, Athens, Greece. Electronic address:

Hereditary Hemochromatosis (HH) is an autosomal recessive genetic disease, characterized by an excessively increased absorption of dietary iron. Excess iron can be accumulated because of the lack of an effective excretory mechanism leading to toxic effects. HH is one of the most common genetic disorders in individuals of European descent. Read More

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http://dx.doi.org/10.1016/bs.vh.2019.01.010DOI Listing
February 2019
4 Reads

Hepcidin-ferroportin axis in health and disease.

Vitam Horm 2019 8;110:17-45. Epub 2019 Feb 8.

Tisch Cancer Institute, Division of Hematology and Medical Oncology, Icahn School of Medicine at Mount Sinai, New York, NY, United States. Electronic address:

Hepcidin is central to regulation of iron metabolism. Its effect on a cellular level involves binding ferroportin, the main iron export protein, resulting in its internalization and degradation and leading to iron sequestration within ferroportin-expressing cells. Aberrantly increased hepcidin leads to systemic iron deficiency and/or iron restricted erythropoiesis. Read More

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http://dx.doi.org/10.1016/bs.vh.2019.01.002DOI Listing
February 2019
2 Reads

Regulators of hepcidin expression.

Vitam Horm 2019 2;110:101-129. Epub 2019 Feb 2.

Institut de Recherche en Santé Digestive (IRSD), Université de Toulouse, INSERM, INRA, ENVT, UPS, Toulouse, France.

Iron, an essential nutrient, is required for many biological processes but is also toxic in excess. The lack of a mechanism to excrete excess iron makes it crucial for the body to regulate the amount of iron absorbed from the diet. This regulation is mediated by the hepatic hormone hepcidin. Read More

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http://dx.doi.org/10.1016/bs.vh.2019.01.005DOI Listing
February 2019
1 Read

New thiazolidinones reduce iron overload in mouse models of hereditary hemochromatosis and β-thalassemia.

Haematologica 2019 Feb 21. Epub 2019 Feb 21.

1.SKLECE, RCEES, CAS, Beijing 100085, China. 2. UCAS, Beijing 100049, P.R. China;

Genetic iron overload disorders, mainly hereditary hemochromatosis and untransfused β-thalassemia, affect a large population worldwide. The primary etiology of iron overload in these diseases is insufficient production of hepcidin by the liver, leading to excessive intestinal iron absorption and iron efflux from macrophages. Hepcidin agonists would therefore be expected to ameliorate iron overload in hereditary hemochromatosis and β-thalassemia. Read More

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http://dx.doi.org/10.3324/haematol.2018.209874DOI Listing
February 2019
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Effect of procyanidin on dietary iron absorption in hereditary hemochromatosis and in dysmetabolic iron overload syndrome: A crossover double-blind randomized controlled trial.

Clin Nutr 2019 Feb 11. Epub 2019 Feb 11.

Internal Medicine Department, University Hospital Clermont-Ferrand, F-63003, France; Clermont-Auvergne University, CRNS, SIGMA Clermont, Institute Pascal, F-63000 Clermont-Ferrand, France.

Background & Aims: Type I hereditary hemochromatosis (HH) and dysmetabolic iron overload syndrome (DIOS) are the two most prevalent iron overload diseases. Although many food components, particularly polyphenols, reduce iron bioavailability, there is no clinically validated nutritional strategy to reduce food-iron absorption in patients with these diseases. We aimed to determine whether supplementation with 100 mg of procyanidins during a meal reduces dietary iron absorption in patients with HH or DIOS. Read More

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http://dx.doi.org/10.1016/j.clnu.2019.02.012DOI Listing
February 2019
1 Read

Real impact of liver cirrhosis on the development of hepatocellular carcinoma in various liver diseases-meta-analytic assessment.

Cancer Med 2019 Feb 21. Epub 2019 Feb 21.

Hatano Red Cross Hospital, Kanagawa, Japan.

Background: It is well known that the incidence of developing hepatocelluler carcinoma (HCC) is increased in liver cirrhosis of different etiologies. However, comparison of HCC incidence in various liver diseases has not yet been estimated. We surveyed this comparison. Read More

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http://dx.doi.org/10.1002/cam4.1998DOI Listing
February 2019

Iron and liver fibrosis: Mechanistic and clinical aspects.

World J Gastroenterol 2019 Feb;25(5):521-538

Department of Nutritional Sciences, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London SE1 9NH, United Kingdom.

Liver fibrosis is characterised by excessive deposition of extracellular matrix that interrupts normal liver functionality. It is a pathological stage in several untreated chronic liver diseases such as the iron overload syndrome hereditary haemochromatosis, viral hepatitis, alcoholic liver disease, non-alcoholic fatty liver disease, non-alcoholic steatohepatitis and diabetes. Interestingly, regardless of the aetiology, iron-loading is frequently observed in chronic liver diseases. Read More

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http://dx.doi.org/10.3748/wjg.v25.i5.521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371002PMC
February 2019
2 Reads

Experience in management of porphyria cutanea tarda in a tertiary referral Brazilian hospital from 2002 to 2017.

Int J Dermatol 2019 Feb 17. Epub 2019 Feb 17.

Department of Dermatology, Hospital das Clínicas, University of São Paulo Medical School, São Paulo, Brazil.

Background: Porphyria cutanea tarda (PCT) is the most common porphyria worldwide. The known acquired precipitating factors that induce PCT include alcoholism, hepatitis C virus infection, human immunodeficiency virus infection, and estrogen intake. Hereditary hemochromatosis is considered an inherited risk factor. Read More

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http://dx.doi.org/10.1111/ijd.14398DOI Listing
February 2019
2 Reads

Cardiac iron overload following liver transplantation in patients without hereditary hemochromatosis or severe hepatic iron deposition.

Cardiovasc Pathol 2019 Jan 3;40:7-11. Epub 2019 Jan 3.

Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA. Electronic address:

Background: Cardiac iron overload following liver transplantation in patients without hemochromatosis but with severe hepatic iron deposition has been reported to result in heart failure and/or death in case reports and small case series. However, the frequency and causes of cardiac iron overload following liver transplantation and its relationship to cardiac dysfunction in patients without severe hepatic iron deposition are unclear.

Methods: The primary inclusion criteria for this study were liver transplantation followed by autopsy or cardiac transplantation within 1 year. Read More

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http://dx.doi.org/10.1016/j.carpath.2018.12.008DOI Listing
January 2019
1 Read

Review article: iron disturbances in chronic liver diseases other than haemochromatosis - pathogenic, prognostic, and therapeutic implications.

Authors:
Albert J Czaja

Aliment Pharmacol Ther 2019 Mar 13;49(6):681-701. Epub 2019 Feb 13.

Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine and Science, Rochester, Minnesota.

Background: Disturbances in iron regulation have been described in diverse chronic liver diseases other than hereditary haemochromatosis, and iron toxicity may worsen liver injury and outcome.

Aims: To describe manifestations and consequences of iron dysregulation in chronic liver diseases apart from hereditary haemochromatosis and to encourage investigations that clarify pathogenic mechanisms, define risk thresholds for iron toxicity, and direct management METHODS: English abstracts were identified in PubMed by multiple search terms. Full length articles were selected for review, and secondary and tertiary bibliographies were developed. Read More

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http://dx.doi.org/10.1111/apt.15173DOI Listing
March 2019
3 Reads

Variation in the repulsive guidance molecule family in human populations.

Authors:
Peter Rotwein

Physiol Rep 2019 Feb;7(3):e13959

Department of Biomedical Sciences, Paul L. Foster School of Medicine, Texas Tech Health University Health Sciences Center, El Paso, Texas.

Repulsive guidance molecules, RGMA, RGMB, and RGMC, are related proteins discovered independently through different experimental paradigms. They are encoded by single copy genes in mammalian and other vertebrate genomes, and are ~50% identical in amino acid sequence. The importance of RGM actions in human physiology has not been realized, as most research has focused on non-human models, although mutations in RGMC are the cause of the severe iron storage disorder, juvenile hemochromatosis. Read More

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http://dx.doi.org/10.14814/phy2.13959DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370684PMC
February 2019
1 Read

Bone Health in Patients With Liver Diseases.

J Clin Densitom 2019 Jan 18. Epub 2019 Jan 18.

Division of Gastroenterology and Hepatology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA USA. Electronic address:

Osteoporosis is the most common bone disease in chronic liver disease (CLD) resulting in frequent fractures and leading to significant morbidity in this population. In addition to patients with cirrhosis and chronic cholestasis, patients with CLD from other etiologies may be affected in the absence of cirrhosis. The mechanism of osteoporosis in CLD varies according to etiology, but in cirrhosis and cholestatic liver disease it is driven primarily by decreased bone formation, which differs from the increased bone resorption seen in postmenopausal osteoporosis. Read More

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http://dx.doi.org/10.1016/j.jocd.2019.01.004DOI Listing
January 2019
1 Read

A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis.

Brain Dev 2019 Feb 5. Epub 2019 Feb 5.

Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.

Background: Niemann-Pick type C (NPC) is a lysosomal lipid storage disease with mutation of NPC1/NPC2 genes, which transport lipids in the endosome and lysosome, and various neurological symptoms. NPC patients also develop hepatosplenomegaly or liver disorder in the neonatal period, and 10% suffer severe liver failure. Neonatal hemochromatosis (NH) is a liver disorder characterized by hepatic and extrahepatic siderosis. Read More

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http://dx.doi.org/10.1016/j.braindev.2019.01.004DOI Listing
February 2019
1 Read

Is the measurement of copper and iron in liver biopsies reliable? Results from a pilot external quality assurance scheme.

J Trace Elem Med Biol 2019 Mar 16;52:288-292. Epub 2019 Jan 16.

SAS Trace Element Centre, Surrey Research Park, 15 Frederick Sanger Road, Guildford, Surrey, GU2 7YD, UK. Electronic address:

The determination of copper and iron in liver biopsies have important roles in the diagnosis of Wilson's Disease and haemochromatosis respectively. An external quality assurance scheme is essential for analytical validation of results, however, none was available for these analytes at the time of this investigation. Accordingly a pilot scheme was established. Read More

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http://dx.doi.org/10.1016/j.jtemb.2019.01.009DOI Listing
March 2019
1 Read

μXRF and LA-ICP-TQMS for quantitative bioimaging of iron in organ samples of a hemochromatosis model.

J Trace Elem Med Biol 2019 Mar 22;52:166-175. Epub 2018 Dec 22.

University of Münster, Institute of Inorganic and Analytical Chemistry, Corrensstraße 30, 48149 Münster, Germany. Electronic address:

Hereditary hemochromatosis is the most common autosomal recessive genetic disorder of the iron metabolism. Iron accumulation in various organs, especially in liver and pancreas leads to diseases and may cause organ failure. In this study, methods for elemental bioimaging by means of quantitative micro X-ray fluorescence analysis (μXRF) and laser ablation-inductively coupled plasma-triple quadrupole mass spectrometry (LA-ICP-TQMS) were developed and applied to investigate the pathophysiological development of iron accumulation in murine tissue based on animals with an iron-overload phenotype caused by a hepatocyte-specific genetic mutation. Read More

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http://dx.doi.org/10.1016/j.jtemb.2018.12.012DOI Listing
March 2019
6 Reads
2.491 Impact Factor

Oral Gavage of Ginger Nanoparticle-Derived Lipid Vectors Carrying Dmt1 siRNA Blunts Iron Loading in Murine Hereditary Hemochromatosis.

Mol Ther 2019 Mar 12;27(3):493-506. Epub 2019 Jan 12.

Food Science & Human Nutrition Department, University of Florida, Gainesville, FL, USA. Electronic address:

Nanoparticles (NPs) have been utilized to deliver drugs to the intestinal epithelium in vivo. Moreover, NPs derived from edible plants are less toxic than synthetic NPs. Here, we utilized ginger NP-derived lipid vectors (GDLVs) in a proof-of-concept investigation to test the hypothesis that inhibiting expression of divalent metal-ion transporter 1 (Dmt1) would attenuate iron loading in a mouse model of hereditary hemochromatosis (HH). Read More

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http://dx.doi.org/10.1016/j.ymthe.2019.01.003DOI Listing
March 2019
2 Reads

α-Lipoic Acid Reduces Iron-induced Toxicity and Oxidative Stress in a Model of Iron Overload.

Int J Mol Sci 2019 Jan 31;20(3). Epub 2019 Jan 31.

Department of Medical, Surgical Sciences and Advanced Technologies "GF Ingrassia", University of Catania, 95123 Catania, Italy.

Iron toxicity is associated with organ injury and has been reported in various clinical conditions, such as hemochromatosis, thalassemia major, and myelodysplastic syndromes. Therefore, iron chelation therapy represents a pivotal therapy for these patients during their lifetime. The aim of the present study was to assess the iron chelating properties of α-lipoic acid (ALA) and how such an effect impacts on iron overload mediated toxicity. Read More

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http://dx.doi.org/10.3390/ijms20030609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387298PMC
January 2019
2 Reads
2.862 Impact Factor

Platelet-derived β2M regulates monocyte inflammatory responses.

JCI Insight 2019 Mar 7;4(5). Epub 2019 Mar 7.

Aab Cardiovascular Research Institute.

β-2 Microglobulin (β2M) is a molecular chaperone for the major histocompatibility class I (MHC I) complex, hemochromatosis factor protein (HFE), and the neonatal Fc receptor (FcRn), but β2M may also have less understood chaperone-independent functions. Elevated plasma β2M has a direct role in neurocognitive decline and is a risk factor for adverse cardiovascular events. β2M mRNA is present in platelets at very high levels, and β2M is part of the activated platelet releasate. Read More

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http://dx.doi.org/10.1172/jci.insight.122943DOI Listing
March 2019
2 Reads

Hemochromatosis - modern condition of the problem.

Ter Arkh 2018 Apr;90(3):107-112

Novosibirsk City Clinical Hospital 2, Russia.

The iron overload syndrome can be associated with various acquired states and hereditary factors. Hereditary hemochromatosis is the most common genetic disorder. Without therapeutic intervention the disease can lead to the development of life-threatening complications such as cirrhosis, hepatocellular carcinoma. Read More

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http://ter-arkhiv.ru/en/archive/2018/vol-90-3-2018/gemokhrom
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http://dx.doi.org/10.26442/terarkh2018903107-112DOI Listing
April 2018
6 Reads

Interactive Effects between Chronic Lead Exposure and the Homeostatic Iron Regulator Transport Polymorphism on the Human Red Blood Cell Mean Corpuscular Volume (MCV).

Int J Environ Res Public Health 2019 Jan 27;16(3). Epub 2019 Jan 27.

Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 80708, Taiwan.

Research has shown that long-term exposure to lead harms the hematological system. The homeostatic iron regulator (hemochromatosis) mutation, which has been shown to affect iron absorption and iron overload, is hypothesized to be related to lead intoxication in vulnerable individuals. The aim of our study was to investigate whether the genotype modifies the blood lead levels that affect the distributions of serum iron and other red blood cell indices. Read More

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http://dx.doi.org/10.3390/ijerph16030354DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6388122PMC
January 2019
1 Read

Brain iron accumulation in a blood donor family with restless legs syndrome.

Rev Neurol 2019 Feb;68(3):107-110

Hospital General Universitario Gregorio Maranon, Madrid, Espana.

Introduction: The pathophysiology of restless legs syndrome (RLS) is complex. Secondary RLS with iron deficiency -which suggests disturbed iron homeostasis- remains to be elucidated.

Case Reports: We report the findings from a unique blood donor family with RLS. Read More

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February 2019
1 Read

[Clinical and pathological features of inherited metabolic liver disease in adults].

Authors:
Z Y He H You X Y Zhao

Zhonghua Gan Zang Bing Za Zhi 2018 Dec;26(12):889-893

Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.

Inherited metabolic liver disease is a kind of metabolic disorders caused by the interactions between host and environmental factors because of genetic defects. The incidence of inherited metabolic liver disease is low and its clinical manifestations are complex and diverse, which initiates difficulties in clinical diagnosis. In addition, hereditary hemochromatosis and Wilson's disease are common types of metabolic abnormalities, often seem in clinical practice, and early diagnosis and treatment can improve the prognosis. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1007-3418.2018.12.003DOI Listing
December 2018
1 Read

Insulin resistance and NAFLD: Relationship with intrahepatic iron and serum TNF-α using 1H MR spectroscopy and MRI.

Diabetes Metab 2019 Jan 17. Epub 2019 Jan 17.

Department of Gastroenterology, University Hospital San Cecilio, Department of Medicine, University of Granada, Spain.

Aim: The association of non-alcoholic fatty liver disease (NAFLD) with insulin resistance (IR) is well established, yet little is known of their possible relationship with intrahepatic iron and serum tumour necrosis factor (TNF)-α concentrations in adults without diabetes. Thus, this study looked at the relationship of intrahepatic iron and serum TNF-α with intrahepatic triglycerides and IR in non-diabetic adults.

Methods: In this cross-sectional study of 104 healthy non-diabetic Caucasians, a quantitative magnetic resonance (MR) imaging T2 gradient-echo technique was used to measure hepatic iron, with 1H-MR spectroscopy used to measure hepatic triglycerides. Read More

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http://dx.doi.org/10.1016/j.diabet.2019.01.005DOI Listing
January 2019
3 Reads

Hereditary Hemochromatosis Associations with Frailty, Sarcopenia and Chronic Pain: Evidence from 200,975 Older UK Biobank Participants.

J Gerontol A Biol Sci Med Sci 2019 Feb;74(3):337-342

Epidemiology and Public Health Group, University of Exeter Medical School, UK.

Background: Iron is essential for life but contributes to oxidative damage. In Northern-European ancestry populations, HFE gene C282Y mutations are relatively common (0.3%-0. Read More

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http://dx.doi.org/10.1093/gerona/gly270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376086PMC
February 2019
2 Reads
5.416 Impact Factor

[Prevalence and clinical features of non-alcoholic steatohepatitis in a hypertensive population].

Hipertens Riesgo Vasc 2019 Jan 14. Epub 2019 Jan 14.

Teoría de la Señal y las Comunicaciones y Sistemas Telemáticos y Computación, Universidad Rey Juan Carlos, Móstoles, Madrid, España.

Objective: Non-alcoholic fatty liver is a chronic liver disease in which fat is deposited in the liver, causing an inflammation called non-alcoholic steatohepatitis (NASH), and fibrosis. NASH is associated with metabolic syndrome (MS) and other cardiovascular risk factors. The aim of this study was to analyse the epidemiological features of NASH within a hypertensive population, with a high prevalence of MS, and to determine the features related to NASH. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18891837183009
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http://dx.doi.org/10.1016/j.hipert.2018.10.001DOI Listing
January 2019
9 Reads

The effect of vitamin D pathway genes and deferasirox pharmacogenetics on liver iron in thalassaemia major patients.

Pharmacogenomics J 2019 Jan 17. Epub 2019 Jan 17.

Department of Medical Sciences, University of Turin, Amedeo di Savoia Hospital, 10149, Turin, Italy.

Monitoring and treating iron overload is crucial in transfusion-dependent thalassaemia patients. Liver stiffness measurement by transient elastography and T2* magnetic resonance imaging represent non-invasive ways to evaluate the adequacy of the iron chelation treatment. We explored the role of single nucleotide polymorphisms involved in vitamin D metabolism, transport and activity, and in deferasirox metabolism on liver iron burden parameters. Read More

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http://dx.doi.org/10.1038/s41397-019-0071-7DOI Listing
January 2019
3 Reads

Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank.

BMJ 2019 Jan 16;364:k5222. Epub 2019 Jan 16.

Epidemiology and Public Health Group, University of Exeter Medical School, RD&E Wonford, Exeter EX2 5DW, UK

Objective: To compare prevalent and incident morbidity and mortality between those with the p.C282Y genetic variant (responsible for most hereditary haemochromatosis type 1) and those with no p.C282Y mutations, in a large UK community sample of European descent. Read More

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http://www.bmj.com/lookup/doi/10.1136/bmj.k5222
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http://dx.doi.org/10.1136/bmj.k5222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334179PMC
January 2019
8 Reads

[Genetic HFE-haemochromatosis].

Ugeskr Laeger 2018 Dec;180(51)

HFE-haemochromatosis is the most frequent genetic disposition for iron overload in ethnic Danes: 20,000 persons are homozygous for the C282Y mutation. The disorder has a long preclinical phase with increasing body iron overload, and 30% of males will develop clinically overt disease, presenting with symptoms of fatigue, arthralgias, reduced libido, erectile dysfunction, cardiac disease, diabetes and liver disease, later progressing into cirrhosis, cardio-myo-pathy, pancreatic fibrosis and osteoporosis. Treatment consists of phlebotomies, which in the preclinical and early clinical phases ensure normal survival. Read More

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December 2018
9 Reads

A computational model to understand mouse iron physiology and disease.

PLoS Comput Biol 2019 01 4;15(1):e1006680. Epub 2019 Jan 4.

Center for Quantitative Medicine and Department of Cell Biology, University of Connecticut School of Medicine, Farmington, Connecticut, United States of America.

It is well known that iron is an essential element for life but is toxic when in excess or in certain forms. Accordingly there are many diseases that result directly from either lack or excess of iron. Yet many molecular and physiological aspects of iron regulation have only been discovered recently and others are still elusive. Read More

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http://dx.doi.org/10.1371/journal.pcbi.1006680DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334977PMC
January 2019
2 Reads

Choosing Wisely Canada-Top Five List in Hepatology: Official Position Statement of the Canadian Association for the Study of the Liver (CASL) and ChoosingWisely Canada (CWC).

Ann Hepatol 2018 Dec;18(1):165-171

Francis Family Liver Clinic, University of Toronto, Canada.

Introduction And Aim: The prevalence and incidence of chronic liver disease is increasing resulting in substantial direct and indirect medical costs. Overuse of investigations, treatments and procedures contribute to rising health care costs and can expose patients to unnecessary harm and delay in receiving care. The Choosing Wisely Canada (CWC) campaign has encouraged profesional societies to develop statements that are directly actionable by their members in an effort to promote higher-value health care that will lead to downstream effect on how other practitioners make decisions. Read More

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https://annalsofhepatology.publisherspanel.com/gicid/01.3001
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http://dx.doi.org/10.5604/01.3001.0012.7908DOI Listing
December 2018
4 Reads

Was the Last Ice Age dusty climate instrumental in spreading of the three "Celtic" diseases (hemochromatosis, cystic fibrosis and palmar fibromatosis)?

Authors:
Sven Kurbel

Med Hypotheses 2019 Jan 20;122:134-138. Epub 2018 Nov 20.

Faculty of Dental Medicine and Health Osijek, Crkvena 21, HR-31000 Osijek, Croatia; Polyclinic Aviva, Nemetova 2, Zagreb, Croatia. Electronic address:

Cystic fibrosis, hereditary hemochromatosis and palmar fibromatosis are often described as "Celtic", based on their contemporary prevalence. The former two are among genetically defined disorders that seem to provide survival advantages to heterozygote individuals, while severe health problems happen in homozygote mutation carriers. Although palmar fibromatosis has no defined mutations, its prevalence has been linked to the prevalence of Y-Chromosome Haplogroup I that expanded after the Last Ice Age, thus making th distribution of all three "Celtic" diseases dependent on the global climate from 40 to 8 Kya. Read More

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http://dx.doi.org/10.1016/j.mehy.2018.11.006DOI Listing
January 2019
2 Reads

Hepato-cerebral hereditary hemochromatosis in a patient with restless legs syndrome.

Med Clin (Barc) 2018 Dec 24. Epub 2018 Dec 24.

Servicio de Neurología, Hospital General Universitario Gregorio Marañón, Universidad Complutense, Madrid, España; Grupo de Investigación de Trastornos del Metabolismo del Hierro, Instituto de Investigación Gregorio Marañón, Madrid, España.

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http://dx.doi.org/10.1016/j.medcli.2018.11.001DOI Listing
December 2018
1 Read

Problems in Ferrokinetics: extra radio-iron fixation to red cells.

Authors:
Hiroshi Saito

Nagoya J Med Sci 2018 Nov;80(4):475-485

Department of Internal Medicine, Kawamura Hospital, 1-84 Daihannya, Akutami, Gifu, Japan.

Red cell radio-iron utilization (RCU) exceeds the ratio red cell iron per whole-body iron due to the extra red cell fixation of radio-iron refluxed from tissue. The extra red cell radio-iron fixation reduces the radio-iron distribution to non-erythron tissue. Affected by RCU, the red cell iron turnover rate (RCIT) becomes larger than the net red cell iron turnover rate, which is indicated by the red cell iron renewal rate (RCIR). Read More

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http://dx.doi.org/10.18999/nagjms.80.4.475DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295426PMC
November 2018
3 Reads

Juvenile hemochromatosis with multi-organ involvement diagnosed at autopsy.

Rev Esp Patol 2019 Jan - Mar;52(1):45-49. Epub 2018 Nov 2.

Structural and Functional Pathology Research Group (PATOS-UIS), Department of Pathology, Universidad Industrial de Santander, Carrera 32 # 29-31, OR 68000212 Bucaramanga, Colombia. Electronic address:

Hereditary hemochromatosis (HH) includes various disorders in iron metabolism producing iron deposits in several organs. HH is classified according to the HFE gene mutation. HH type I is characterized by HFE gene mutation, while types II, III and IV are due to other conditions. Read More

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http://dx.doi.org/10.1016/j.patol.2018.08.005DOI Listing
November 2018
2 Reads

Measurement of liver iron by magnetic resonance imaging in the UK Biobank population.

PLoS One 2018 21;13(12):e0209340. Epub 2018 Dec 21.

Research Centre for Optimal Health, School of Life Sciences, University of Westminster, London, United Kingdom.

The burden of liver disease continues to increase in the UK, with liver cirrhosis reported to be the third most common cause of premature death. Iron overload, a condition that impacts liver health, was traditionally associated with genetic disorders such as hereditary haemochromatosis, however, it is now increasingly associated with obesity, type-2 diabetes and non-alcoholic fatty liver disease. The aim of this study was to assess the prevalence of elevated levels of liver iron within the UK Biobank imaging study in a cohort of 9108 individuals. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0209340PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303057PMC
December 2018
17 Reads

HFE H63D Polymorphism and the Risk for Systemic Hypertension, Myocardial Remodeling, and Adverse Cardiovascular Events in the ARIC Study.

Hypertension 2019 Jan;73(1):68-74

Division of Cardiology, Department of Medicine, Brigham and Women's Hospital, Boston, MA (S. Seidelmann, O.M.S., B.C., S.C., M.M.F.-S., A.M.S., S.D.S.).

H63D has been identified as a novel locus associated with the development of hypertension. The quantitative risks for hypertension, cardiac remodeling, and adverse events are not well studied. We analyzed white participants from the ARIC study (Atherosclerosis Risk in Communities) with H63D genotyping (N=10 902). Read More

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.118.11730DOI Listing
January 2019
2 Reads

Gestational Alloimmune Liver Disease: A Case Study.

Neonatal Netw 2018 Sep;37(5):271-280

Gestational alloimmune liver disease (GALD) is initiated by maternal antibodies that attack fetal hepatocytes. The fetal immune response to the antibodies causes liver damage. The incidence of GALD is four per 100,000 live births in the United States. Read More

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http://dx.doi.org/10.1891/0730-0832.37.5.271DOI Listing
September 2018
1 Read

Severe Hemochromatosis Arthropathy in the Absence of Iron Overload.

Hepatology 2018 Dec 18. Epub 2018 Dec 18.

Department of Medicine, University Hospital, London, ON, Canada.

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http://doi.wiley.com/10.1002/hep.30469
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http://dx.doi.org/10.1002/hep.30469DOI Listing
December 2018
12 Reads