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    Iron and infection.
    Int J Hematol 2017 Nov 16. Epub 2017 Nov 16.
    CHS 52-243, Departments of Medicine and Pathology, David Geffen School of Medicine, University of California, 10833 Le Conte Ave., Los Angeles, CA, 90095, USA.
    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. Read More

    [Diagnosis of haemochromatosis].
    Ned Tijdschr Geneeskd 2017 ;161(0):D1438
    Reinier de Graaf Gasthuis, Delft.
    Interpretation of laboratory parameters in cases of haemochromatosis can be difficult. Here, we describe two patients with markedly elevated transferrin saturation and high ferritin levels. The first patient is a 51-year-old woman who had been complaining of fatigue, abdominal pain and arthritis for three years. Read More

    The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis.
    Int J Hematol 2017 Nov 13. Epub 2017 Nov 13.
    Department of Hematology and Immunology, Kanazawa Medical University, 1-1 Daigaku, Uchinada-machi, Ishikawa-ken, 920-0293, Japan.
    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). Read More

    Iron metabolism and the role of the iron-regulating hormone hepcidin in health and disease.
    Presse Med 2017 Nov 9. Epub 2017 Nov 9.
    University Sorbonne Paris Cité, Paris Diderot University, Laboratory of Excellence GR-Ex, Inflammation Research Center (CRI), Inserm U1149/ERL 8252, Paris, France. Electronic address:
    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. Read More

    MRI ankle and subtalar characteristics in haemochromatosis arthropathy: a case-control study.
    Clin Radiol 2017 Nov 7. Epub 2017 Nov 7.
    Department of Rheumatology, St George's University Hospitals NHS Foundation Trust, UK. Electronic address:
    Aim: To examine the magnetic resonance imaging (MRI) features of the ankle and subtalar joints that might distinguish genetic haemochromatosis (GH).

    Materials And Methods: The present study was a retrospective case-control study comparing 30 MRI studies of GH patients with ankle or subtalar arthropathy with 30 matched controls with ankle pain. Anonymised images were scored using a semi-quantative tool adapted from the MRI osteoarthritis knee score. Read More

    Role of liver magnetic resonance imaging in hyperferritinaemia and the diagnosis of iron overload.
    Swiss Med Wkly 2017 Nov 9;147:w14550. Epub 2017 Nov 9.
    Department of Radiology, University Hospital Geneva, Switzerland.
    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. Read More

    Associated conditions in small fiber neuropathy - A large cohort study and review of the literature.
    Eur J Neurol 2017 Nov 7. Epub 2017 Nov 7.
    Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center, Maastricht, The Netherlands.
    Background: Small fiber neuropathy (SFN) is a common disorder, leading to neuropathic pain and autonomic symptoms. The objective of this study was to investigate associated conditions in a large cohort of SFN patients and compare the prevalence to healthy individuals.

    Methods: A total of 921 patients with pure SFN were screened according to a standardized comprehensive diagnostic algorithm and compared with literature findings. Read More

    The ferroportin disease: pathogenesis, diagnosis and treatment.
    Haematologica 2017 Nov 3. Epub 2017 Nov 3.
    University Hospital of Modena, Modena, Italy
    The Ferroportin Disease is an autosomal dominant hereditary iron loading disorder associated with heterozygote mutations of the ferroportin-1 (FPN) gene. It represents one of commonest cause of genetic hyperferritinemia, regardless of ethnicity. FPN1 transfers iron from the intestine, macrophages and placenta into the bloodstream. Read More

    Expanded carrier screening in gamete donors of Venezuela.
    JBRA Assist Reprod 2017 Nov 3. Epub 2017 Nov 3.
    Unifertes Fertility Unit, Caracas, Venezuela.
    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. Read More

    Longitudinal changes in lic and other parameters in patients receiving different chelation regimens: data from LICNET.
    Eur J Haematol 2017 Nov 1. Epub 2017 Nov 1.
    Campus of Haematology Franco and Piera Cutino, AOOR Villa Sofia-V. Cervello, Palermo.
    Objectives: The liver remains the primary site of iron storage, with liver iron concentration (LIC) being a strong surrogate of total body iron. MRI-R2 can accurately measure LIC. The LICNET (Liver Iron Cutino Net-work) was established to diagnostics of liver iron overload by MRI-R2 subjects with hemochromatosis in haematological disorders. Read More

    Juvenile hemochromatosis: HAMP mutation and severe iron overload treated with phlebotomies and deferasirox.
    World J Clin Cases 2017 Oct;5(10):381-383
    Laboratory of Genetics and Molecular Cardiology, Heart Institute (InCor), University of Sao Paulo Medical School, São Paulo, SP 05403-900, Brazil.
    Juvenile hemochromatosis (JH) is a rare condition classified as an autosomal recessive disorder that leads to severe iron absorption. JH usually affects people under the age of 30 and presents symptoms such as chronic liver damage, hypogonadotropic hypogonadism, cardiac diseases and endocrine dysfunctions. The present case reports a 29-year-old Brazilian woman with JH condition due to HAMP mutation (g. Read More


    Optimizing the management of hereditary haemochromatosis: the value of MRI R2* quantification to predict and monitor body iron stores.
    Br J Haematol 2017 Oct 30. Epub 2017 Oct 30.
    i3S, Instituto de Investigação e Inovação em Saúde, University of Porto, IBMC, Institute for Molecular and Cell Biology, Porto, Portugal.

    The Effects of HFE Polymorphisms on Biochemical Parameters of Iron Status in Arab Beta-Thalassemia Patients.
    Indian J Hematol Blood Transfus 2017 Dec 18;33(4):545-551. Epub 2017 Jan 18.
    Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Kuwait University, PO Box 31470, Sulaibekhat, Kuwait.
    In this study, the potential effect of three HFE gene polymorphisms (C282Y, H63D and S65C) and the SLC40A1 A77D polymorphism on iron balance was investigated in 234 subjects (91 Arab beta-thalassemia major (BTM) patients, 34 beta-thalassemia trait (BTT) individuals and 109 health controls). Genotyping was done using restriction-fragment-length polymorphism and direct-sequencing. Serum-iron, total iron binding capacity, transferrin and ferritin were estimated in all BTT and BTM, and in 65 healthy controls. Read More

    Ethnic and genetic factors of iron status in women of reproductive age.
    Am J Clin Nutr 2017 Oct 25. Epub 2017 Oct 25.
    Division of Nutritional Sciences, Cornell University, Ithaca, NY, and.
    Background: African Americans are at increased risk of iron deficiency (ID) but also have higher serum ferritin (SF) concentrations than those of the general population. The Hemochromatosis and Iron Overload Screening (HEIRS) Study was a multicenter study of ethnically diverse participants that tested for the hemochromatosis (HFE) C282Y genotype and iron status.Objective: We sought to determine the prevalence and predictors of ID (SF concentration ≤15 μg/L) and elevated iron stores (SF concentration >300 μg/L) in HEIRS women of reproductive age (25-44 y). Read More

    Current understanding of iron homeostasis.
    Am J Clin Nutr 2017 Oct 25. Epub 2017 Oct 25.
    Iron Metabolism Laboratory, QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia; and Schools of.
    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). Read More

    Ultrasound verified inflammation and structural damage in patients with hereditary haemochromatosis-related arthropathy.
    Arthritis Res Ther 2017 Oct 24;19(1):243. Epub 2017 Oct 24.
    First Medical Department, Hanusch Hospital and Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, Heinrich-Collin-Straße 30, 1140, Vienna, Austria.
    Background: Chronic arthropathy occurs in approximately two thirds of patients with hereditary haemochromatosis (HH). The aim was to study inflammatory and structural lesions in patients with HH with (HH-A) and without arthropathy (HH-WA) using ultrasonography.

    Methods: This was a cross-sectional study of 26 patients with HH-A, 24 with HH-WA and 37 with hand osteoarthritis (HOA). Read More

    Risk factors for intrahepatic and extrahepatic cholangiocarcinoma in the United States: A population-based study in SEER-Medicare.
    PLoS One 2017 19;12(10):e0186643. Epub 2017 Oct 19.
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, United States of America.
    Objectives: Intrahepatic (ICC) and extrahepatic (ECC) cholangiocarcinomas are rare tumors that arise from the epithelial cells of the bile ducts, and the etiology of both cancer types is poorly understood. Thus, we utilized the Surveillance, Epidemiology, and End Results (SEER)-Medicare resource to examine risk factors and novel preexisting medical conditions that may be associated with these cancer types.

    Methods: Between 2000 and 2011, 2,092 ICC and 2,981 ECC cases and 323,615 controls were identified using the SEER-Medicare database. Read More

    Increased Plasma Ferritin Concentration and Low-Grade Inflammation-A Mendelian Randomization Study.
    Clin Chem 2017 Oct 16. Epub 2017 Oct 16.
    Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark;
    Background: It is unknown why increased plasma ferritin concentration predicts all-cause mortality. As low-grade inflammation and increased plasma ferritin concentration are associated with all-cause mortality, we hypothesized that increased plasma ferritin concentration is genetically associated with low-grade inflammation.

    Methods: We investigated whether increased plasma ferritin concentration is associated with low-grade inflammation [i. Read More

    A Patient with Nafcillin-Associated Drug-Induced Liver Failure.
    Case Rep Gastroenterol 2017 Sep-Dec;11(3):564-568. Epub 2017 Sep 26.
    Department of Medicine, Stony Brook University Hospital, Stony Brook, New York, USA.
    Nafcillin-induced acute liver injury is a rare and potentially fatal complication that has been known since the 1960s but inadequately studied. At this time, the only proven treatment is early discontinuation of the drug. Because of the high prevalence of nafcillin class antibiotic use in the United States, it is important for clinicians to have a high clinical suspicion for this diagnosis. Read More

    Melanotic Macule in Conjunction with a Giant Cell Fibroma.
    J Contemp Dent Pract 2017 Oct 1;18(10):981-985. Epub 2017 Oct 1.
    Department of Periodontology, Lake Erie College of Osteopathic Medicine, School of Dental Medicine, Bradenton, Florida, USA, Phone: +9414051506, e-mail:
    Introduction: The aim of this study is to describe a case of a melanotic macule found in conjunction with a giant cell fibroma (GCF). For oral pigmented lesions without an identifiable etiologic factor, critical factors in determining the differential diagnosis are clinical history, symmetry, and uniformity of the lesions. Potential differential diagnosis includes racial pigmentation, endocrine disturbance, Peutz-Jeghers syndrome, trauma, hemochromatosis, oral malignant melanoma, or idiopathic etiology and melanotic macules. Read More

    Genetic Testing in Liver Disease: What to Order, in Whom, and When.
    Clin Liver Dis 2017 Nov 29;21(4):673-686. Epub 2017 Jul 29.
    Transitions of Care, Division of Gastroenterology and Hepatology, Weill Cornell Medical College, Center for Liver Disease, 1305 York Avenue, 4th Floor, New York, NY 10021, USA. Electronic address:
    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. Read More

    [Epidemiology and risk factors of hepatocellular carcinoma].
    Pol Merkur Lekarski 2017 Sep;43(255):133-139
    St Johns' Cancer Center in Lublin; Humana Anatomy Department, Medical University of Lublin.
    Primary liver neoplasms occurs relatively rarely in Poland. The most frequently occurring type of cancer is hepatocellular carcinoma (HCC), which globally constitutes 7% of all the occurrences of cancer. The incidence increases with age and is the highest in patients around the age of 70. Read More

    A Novel Approach to Improving Utilization of Laboratory Testing.
    Arch Pathol Lab Med 2017 Oct 5. Epub 2017 Oct 5.
    From the Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, Ohio. Dr Zhou is now with the Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City.
    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. Read More

    Progress in iron metabolism research.
    Rinsho Ketsueki 2017 ;58(10):1864-1871
    Department of Hematology and Immunology, Kanazawa Medical University.
    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. Read More

    The Role of Diagnosis and Treatment of Underlying Liver Disease for the Prognosis of Primary Liver Cancer.
    Cancer Control 2017 Jul-Sep;24(3):1073274817729240
    2 Department of Gastroenterology, Gastrointestinal Oncology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.
    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. Read More

    Uncoupled iron homeostasis in type 2 diabetes mellitus.
    J Mol Med (Berl) 2017 Dec 3;95(12):1387-1398. Epub 2017 Oct 3.
    Department of Pediatric Hematology, Oncology and Immunology, University of Heidelberg, Heidelberg, Germany.
    Diabetes mellitus is frequently associated with iron overload conditions, such as primary and secondary hemochromatosis. Conversely, patients affected by type 2 diabetes mellitus (T2DM) show elevated ferritin levels, a biomarker for increased body iron stores. Despite these documented associations between dysregulated iron metabolism and T2DM, the underlying mechanisms are poorly understood. Read More

    Autoimmune Hepatitis: Diagnostic Dilemma When It Is Disguised as Iron Overload Syndrome.
    J Clin Exp Hepatol 2017 Sep 16;7(3):269-273. Epub 2017 Mar 16.
    Wyckoff Heights Medical Center, 374 Stockholm Street, Brooklyn, NY 11237, USA.
    Elevated serum ferritin level is a common finding in iron overload syndrome, autoimmune and viral hepatitis, alcoholic and nonalcoholic fatty liver diseases. High transferrin saturation is not a common finding in above diseases except for iron overload syndrome. We encountered a challenging case of 73-year-old female who presented with yellowish discoloration of skin, dark color urine and dull abdominal pain. Read More

    Iron supplementation in mouse expands cellular innate defences in spleen and defers lethal malaria infection.
    Biochim Biophys Acta 2017 Dec 29;1863(12):3049-3059. Epub 2017 Sep 29.
    Department of Biochemistry and Molecular Biology, Complutense University of Madrid, Faculty of Veterinary Sciences, 28040 Madrid, Spain; Research Institute Hospital 12 de Octubre, Madrid 28041, Spain. Electronic address:
    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. Read More

    From the bottom of the heart: Measuring liver iron concentration on cardiac MRI.
    Clin Imaging 2017 Sep 13;47:124-129. Epub 2017 Sep 13.
    Montreal Heart Institute, Radiology Department, 5000 Belanger street, Montreal, QC, H1T 1C8, Canada.
    Patients with hemochromatosis require regular surveillance of liver and cardiac iron concentration with liver and cardiac MRI. However, cardiac MRI includes a part of the liver in the field of view. The purpose of this retrospective and prospective study is to determine if liver T2* measured on cardiac MRI may be used as a surrogate for T2* obtained on standard liver MRI. Read More

    Late-onset Hemochromatosis: Co-inheritance of β-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of Diverse Populations.
    Intern Med 2017 Sep 25. Epub 2017 Sep 25.
    Department of Hematology and Hematology Research Laboratory, West China Hospital, Sichuan University, China.
    Hereditary hemochromatosis and β-thalassemia can both result in the inappropriately low production of the hormone hepcidin, which leads to an increase in intestinal absorption and excessive iron deposition in the parenchymal cells. To the best of our knowledge, there have been no reports on the coexistence of the two disorders in China. We herein report a case in a Chinese who presented with late-onset hepatic cirrhosis with hereditary hemochromatosis and β-thalassemia. Read More

    Duodenal cytochrome b (Cybrd1) ferric reductase functional studies in cells.
    Metallomics 2017 Oct;9(10):1389-1393
    King's College London, Department of Nutritional Sciences, Faculty of Life Sciences and Medicine, Franklin-Wilkins Building, 150 Stamford Street, London, SE1 9NH, UK.
    Dietary non-heme ferric iron is reduced by the ferric reductase enzyme, duodenal cytochrome b (Dcytb), before absorption by the divalent metal transporter 1 (DMT1). A single nucleotide polymorphism (SNP rs10455 mutant) that is located in the last exon of the Dcytb gene was reported in C282Y haemochromatosis HFE subjects. The present work therefore investigated the phenotype of this mutant Dcytb in Chinese hamster ovary (CHO) cells. Read More

    Serpinb3 is overexpressed in the liver in presence of iron overload.
    J Investig Med 2017 Sep 20. Epub 2017 Sep 20.
    Veneto Institute of Oncology, IOV - IRCCS, Padua, Italy.
    Iron overload results in cellular toxicity, tissue injury, organ fibrosis and increased risk of neoplastic transformation. SerpinB3 is a serine protease inhibitor overexpressed in the liver in oxidative stress conditions, able to induce fibrosis and increased risk of malignant transformation. Aim of the present study was to assess the effect of iron overload on SerpinB3 expression in the liver using in vivo and in vitro models. Read More

    Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: A case report and a review of the literature.
    Medicine (Baltimore) 2017 Sep;96(38):e8064
    aLiver Research Center, Beijing Key Laboratory of Translational Medicine in Liver Cirrhosis, Beijing Friendship Hospital, Capital Medical University bNational Clinical Research Center for Digestive Diseases cExperimental Center, Beijing Friendship Hospital, Capital Medical University; Beijing, China.
    Rationale: Hereditary hemochromatosis can be divided into HFE- and non-HFE-related based on genetic mutations in different genes. HFE-related hemochromatosis is the most common inherited genetic disease in European populations but rare in Asia-pacific region. Recently, non-HFE-related hemochromatosis has been reported in patients from the Asian countries. Read More

    New targeted therapies and diagnostic methods for iron overload diseases.
    Front Biosci (Schol Ed) 2018 Jan 1;10:1-20. Epub 2018 Jan 1.
    Postgraduate Research Institute of Science, Technology, Environment and Medicine Limassol, Cyprus, Greece,
    Millions of people worldwide suffer from iron overload toxicity diseases such as transfusional iron overload in thalassaemia and hereditary haemochromatosis. The accumulation and presence of toxic focal iron deposits causing tissue damage can also be identified in Friedreich's ataxia, Alzheimer's, Parkinson's, renal and other diseases. Different diagnostic criteria of toxicity and therapeutic interventions apply to each disease of excess or misplaced iron. Read More

    Pseudovitelliform maculopathy associated with deferoxamine toxicity: multimodal imaging and electrophysiology of a rare entity.
    Digit J Ophthalmol 2017 13;23(1):11-15. Epub 2017 Feb 13.
    Atlantis Eye Care, Huntington Beach, California.
    Deferoxamine is a commonly used chelating agent for secondary hemochromatosis. We report a rare retinal manifestation of deferoxamine toxicity in a 68-year-old man and provide supporting multimodal imaging and electrophysiology. The patient had iron overload related to transfusion-dependent myelodysplastic syndrome and developed a pseudovitelliform macular lesion related to deferoxamine toxicity. Read More

    Diagnosis and quantification of the iron overload through Magnetic resonance.
    Radiologia 2017 Nov - Dec;59(6):487-495. Epub 2017 Sep 18.
    Servicio de Radiología, Hospital Universitario Donostia, San Sebastián, España.
    There are different magnetic resonance techniques and models to quantify liver iron concentration. T2 relaxometry methods evaluate the iron concentration in the myocardium, and they are able to discriminate all the levels of iron overload in the liver. Signal intensity ratio methods saturate with high levels of liver overload and can not assess iron concentration in the myocardium but they are more accessible and are very standardized. Read More

    SERUM FERRITIN CONCENTRATION IS NOT A RELIABLE BIOMARKER OF IRON OVERLOAD DISORDER PROGRESSION OR HEMOCHROMATOSIS IN THE SUMATRAN RHINOCEROS (DICERORHINUS SUMATRENSIS).
    J Zoo Wildl Med 2017 Sep;48(3):645-658
    The aim of this study was to determine if ferritin is a reliable biomarker of iron overload disorder (IOD) progression and hemochromatosis in the Sumatran rhinoceros (Dicerorhinus sumatrensis) by developing a species-specific ferritin assay and testing historically banked samples collected from rhinos that did and did not die of hemochromatosis. Ferritin extracted from Sumatran rhino liver tissue was used to generate antibodies for the Enzyme Immunoassay. Historically banked Sumatran rhino serum samples (n = 298) obtained from six rhinos in US zoos (n = 290); five rhinos at the Sumatran Rhino Conservation Centre in Sungai Dusun, Malaysia (n = 5); and two rhinos in Sabah, Malaysia (n = 3) were analyzed for ferritin concentrations. Read More

    Restrictive Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.
    Circ Res 2017 Sep;121(7):819-837
    From the Division of Hematology (E.M., M.A.G.) and Department of Cardiovascular Medicine (L.A.B.), Mayo Clinic, Rochester, MN.
    Restrictive cardiomyopathy (RCM) is characterized by nondilated left or right ventricle with diastolic dysfunction. The restrictive cardiomyopathies are a heterogenous group of myocardial diseases that vary according to pathogenesis, clinical presentation, diagnostic evaluation and criteria, treatment, and prognosis. In this review, an overview of RCMs will be presented followed by a detailed discussion on 3 major causes of RCM, for which tailored interventions are available: cardiac amyloidosis, cardiac sarcoidosis, and cardiac hemochromatosis. Read More

    Reassessing the Safety Concerns of Utilizing Blood Donations from Patients with Hemochromatosis.
    Hepatology 2017 Sep 13. Epub 2017 Sep 13.
    Department of Medicine, Division of Liver Diseases, Recanati/Miller Transplantation Institute, Mount Sinai Medical Center, New York, NY.
    Hereditary hemochromatosis (HH) is a genetic disorder of iron metabolism which may lead to iron overload. Clinical penetrance is low, however those afflicted may develop cirrhosis, hepatocellular carcinoma, diabetes mellitus and cardiomyopathy. Treatment involves regular phlebotomy to reduce the systemic iron burden. Read More

    Fertility challenges for women with sickle cell disease.
    Expert Rev Hematol 2017 Oct 11;10(10):891-901. Epub 2017 Sep 11.
    b Department of Obstetrics & Gynecology , Duke University , Durham , NC , USA.
    Introduction: Sickle cell disease (SCD) represents one of the most common monogenic blood disorders worldwide, with an incidence of over 300,000 newborns affected per year. Reproductive challenges for men and women with SCD have been previously reviewed; however, evidence-based strategies to prevent and manage infertility and increase fecundity are lacking in women with SCD, which is one of the most important factors for quality of life. Areas covered: This review article summarizes the known risk factors for infertility, low fecundity, and premature menopause related to SCD. Read More

    Hepcidin is regulated by promoter-associated histone acetylation and HDAC3.
    Nat Commun 2017 Sep 1;8(1):403. Epub 2017 Sep 1.
    MRC Human Immunology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK.
    Hepcidin regulates systemic iron homeostasis. Suppression of hepcidin expression occurs physiologically in iron deficiency and increased erythropoiesis but is pathologic in thalassemia and hemochromatosis. Here we show that epigenetic events govern hepcidin expression. Read More

    Cystathionine β-synthase is required for body iron homeostasis.
    Hepatology 2017 Aug 31. Epub 2017 Aug 31.
    School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Shatin, NT, Hong Kong.
    Cystathionine β-synthase (CBS) catalyzes the transsulfuration pathway and contributes, among other functions, to the generation of hydrogen sulfide (H2 S). In view of the exceptionally high expression of CBS in the liver and the common interleukin-6 (IL-6) pathway utilized in the regulatory systems of H2 S and hepcidin, we speculate that CBS is involved in body iron homeostasis. We found that CBS knock-out (CBS(-/-) ) mice exhibited anemia and a significant increase in iron content in the serum, liver, spleen and heart, along with severe damage to the liver, displaying a hemochromatosis-like phenotype. Read More

    Association of exposure to manganese and iron with relaxation rates R1 and R2*- magnetic resonance imaging results from the WELDOX II study.
    Neurotoxicology 2017 Aug 25. Epub 2017 Aug 25.
    Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr-Universität Bochum (IPA), Bochum, Germany.
    Objective: Magnetic resonance imaging is a non-invasive method that allows the indirect quantification of manganese (Mn) and iron (Fe) accumulation in the brain due to their paramagnetic features. The WELDOX II study aimed to explore the influence of airborne and systemic exposure to Mn and Fe on the brain deposition using the relaxation rates R1 and R2* as biomarkers of metal accumulation in regions of interest in 161 men, including active and former welders.

    Material And Methods: We obtained data on the relaxation rates R1 and R2* in regions that included structures within the globus pallidus (GP), substantia nigra (SN), and white matter of the frontal lobe (FL) of both hemispheres, as well as Mn in whole blood (MnB), and serum ferritin (SF). Read More

    Hemochromatosis as Junctional Tachycardia, a Rare Presentation.
    Clin Pract 2017 Jun 3;7(3):979. Epub 2017 Aug 3.
    Department of Cardiology, Abington Jefferson Health, Abington, PA, USA.
    We present here a 45-year-old male with no past medical problem who presented with palpitations. He was found to have supraventricular tachycardia intractable to medical therapy. Later his rhythm converted to junctional tachycardia. Read More

    MicroRNA Expression Analysis in Serum of Patients with Congenital Hemochromatosis and Age-Related Macular Degeneration (AMD).
    Med Sci Monit 2017 Aug 22;23:4050-4060. Epub 2017 Aug 22.
    Department of Eye Diseases, Medical University of Łódź, Łódź, Poland.
    BACKGROUND Congenital hemochromatosis is a disorder caused by mutations of genes involved in iron metabolism, leading to increased levels of iron concentration in tissues and serum. High concentrations of iron can lead to the development of AMD. The aim of this study was to analyze circulating miRNAs in the serum of congenital hemochromatosis patients with AMD and their correlation with the expression of genes involved in iron metabolism. Read More

    Deciphering the molecular basis of ferroportin resistance to hepcidin: Structure/function analysis of rare SLC40A1 missense mutations found in suspected hemochromatosis type 4 patients.
    Transfus Clin Biol 2017 Nov 18;24(4):462-467. Epub 2017 Aug 18.
    Inserm UMR1078, faculté de médecine et des sciences de la santé, université Bretagne Loire-université de Bretagne Occidentale, IBSAM, IBRBS, 22, rue Camille-Desmoulins, 29200 Brest, France; Laboratory of Excellence GR-Ex, institut Imagine, 24, boulevard du Montparnasse, 75015, Paris, France; Laboratoire de génétique moléculaire et histocompatibilité, hôpital Morvan, CHRU de Brest, 2, avenue Foch, 29200 Brest, France; Établissement français du sang, Bretagne, site de Brest, 46 rue Félix-Le-Dantec, 29200 Brest, France.
    Genetic medicine applied to the study of hemochromatosis has identified the systemic loop controlling iron homeostasis, centered on hepcidin-ferroportin interaction. Current challenges are to dissect the molecular pathways underlying liver hepcidin synthesis in response to circulatory iron, HFE, TFR2, HJV, TMPRSS6 and BMP6 functions, and to define the major structural elements of hepcidin-ferroportin interaction. We built a first 3D model of human ferroportin structure, using the crystal structure of EmrD, a bacterial drug efflux transporter of the Major Facilitator Superfamily, as template. Read More

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