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Haemochromatosis

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https://www.readbyqxmd.com/read/29442300/population-screening-for-hereditary-haemochromatosis-in-australia-construction-and-validation-of-a-state-transition-cost-effectiveness-model
#1
Barbara de Graaff, Lei Si, Amanda L Neil, Kwang Chien Yee, Kristy Sanderson, Lyle C Gurrin, Andrew J Palmer
INTRODUCTION: HFE-associated haemochromatosis, the most common monogenic disorder amongst populations of northern European ancestry, is characterised by iron overload. Excess iron is stored in parenchymal tissues, leading to morbidity and mortality. Population screening programmes are likely to improve early diagnosis, thereby decreasing associated disease. Our aim was to develop and validate a health economics model of screening using utilities and costs from a haemochromatosis cohort...
March 2017: PharmacoEconomics Open
https://www.readbyqxmd.com/read/29429306/the-voice-of-haemochromatosis-journeys-in-regional-australia
#2
Jessica Pearce, Robin A Ray, Suzanne McKenzie
People living with haemochromatosis had a positive attitude to the condition, but there were individual variations in the ways they engaged in self-management. A doctor–patient partnership is crucial in the management of haemochromatosis, especially in rural areas. Patients' symptom experiences and self‑management decisions need to be seriously considered. <div class="hor-line"> </div>.
January 2018: Aust J Gen Pract
https://www.readbyqxmd.com/read/29301806/inherited-haemochromatosis-with-c282y-mutation-in-a-patient-with-alpha-thalassaemia-a-treatment-dilemma
#3
Mohammed Abdullah Al Qasem, Fayez Hanna, Usira S Vithanarachchi, Alhossain A Khalafallah
A Caucasian 24-year-old female patient suffers from two hereditary disorders: alpha-thalassaemia, which is prevalent in Asia and rare in Europe, and haemochromatosis, which is prevalent among northern Europe and rare in Asia. The clinical presentation and management of one of these diseases is controversial for the other. She presented 5 years ago with a clinical picture of refractory iron-deficiency anaemia secondary to menorrhagia. On treating her with the standard iron therapy, her anaemia persists although with adquate iron stores...
January 4, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29230833/causes-of-iron-overload-in-blood-donors-a-clinical-study
#4
A H Laursen, O W Bjerrum, L Friis-Hansen, T O Hansen, J L Marott, K Magnussen
BACKGROUND AND OBJECTIVES: Despite the obligate iron loss from blood donation, some donors present with hyperferritinaemia that can result from a wide range of acute and chronic conditions including hereditary haemochromatosis (HH). The objective of our study was to investigate the causes of hyperferritinaemia in the blood donor population and explore the value of extensive HH mutational analyses. MATERIALS AND METHODS: Forty-nine consecutive donors (f = 6, m = 43) were included prospectively from the Capital Regional Blood Center...
December 12, 2017: Vox Sanguinis
https://www.readbyqxmd.com/read/29228396/comment-on-hereditary-haemochromatosis-arthropathy-and-doppler-ultrasound-findings-of-synovitis-reply
#5
Anuoluwapo R Oke, Ernest Wong, Steven Young-Min
No abstract text is available yet for this article.
December 7, 2017: Rheumatology
https://www.readbyqxmd.com/read/29195602/reduction-of-body-iron-in-hfe-related-haemochromatosis-and-moderate-iron-overload-mi-iron-a-multicentre-participant-blinded-randomised-controlled-trial
#6
Sim Y Ong, Lyle C Gurrin, Lara Dolling, Jeanette Dixon, Amanda J Nicoll, Michelle Wolthuizen, Erica M Wood, Gregory J Anderson, Grant A Ramm, Katrina J Allen, John K Olynyk, Darrell Crawford, Louise E Ramm, Paul Gow, Simon Durrant, Lawrie W Powell, Martin B Delatycki
BACKGROUND: The iron overload disorder hereditary haemochromatosis is most commonly caused by HFE p.Cys282Tyr homozygosity. In the absence of results from any randomised trials, current evidence is insufficient to determine whether individuals with hereditary haemochromatosis and moderately elevated serum ferritin, should undergo iron reduction treatment. This trial aimed to establish whether serum ferritin normalisation in this population improved symptoms and surrogate biomarkers. METHODS: This study was a multicentre, participant-blinded, randomised controlled trial done at three centres in Australia...
December 2017: Lancet Haematology
https://www.readbyqxmd.com/read/29145899/-diagnosis-of-haemochromatosis
#7
L IJsselstijn, A A van Houten, F Weerkamp
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. Her liver enzymes were mildly elevated. Secondary causes of iron overload had been excluded. DNA investigation found a homozygous p.Cys282Tyr mutation in the HFE protein, consistent with hereditary haemochromatosis...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/29126545/mri-ankle-and-subtalar-characteristics-in-haemochromatosis-arthropathy-a-case-control%C3%A2-study
#8
A Elstob, V Ejindu, C W Heron, P D W Kiely
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. Scores were generated for bone marrow lesions size, number, and distinguishing the proportion of each lesion consisting of subchondral cyst versus oedema...
November 7, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/29120023/role-of-liver-magnetic-resonance-imaging-in-hyperferritinaemia-and-the-diagnosis-of-iron-overload
#9
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/29112785/associated-conditions-in-small-fiber-neuropathy-a-large-cohort-study-and-review-of-the-literature
#10
Bianca T A de Greef, Janneke G J Hoeijmakers, Carla M L Gorissen-Brouwers, Margot Geerts, Catharina G Faber, Ingemar S J Merkies
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. RESULTS: In 53% of the patients, no associated condition could be found...
November 7, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29065925/ultrasound-verified-inflammation-and-structural-damage-in-patients-with-hereditary-haemochromatosis-related-arthropathy
#11
Christian Dejaco, Andreas Stadlmayr, Christina Duftner, Viktoria Trimmel, Rusmir Husic, Elisabeth Krones, Shahin Zandieh, Emma Husar-Memmer, Gernot Zollner, Josef Hermann, Judith Gretler, Angelika Lackner, Anja Ficjan, Christian Datz, Roland Axman, Jochen Zwerina
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). Clinical examination was performed in 68 joints, and we retrieved data on hand function, pain and global disease activity (all using a visual analogue scale (VAS)), morning stiffness and ferritin levels...
October 24, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28937159/duodenal-cytochrome-b-cybrd1-ferric-reductase-functional-studies-in-cells
#12
F Schlottmann, M Vera-Aviles, G O Latunde-Dada
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. These cultured cells were transfected with either wild type (WT) or the SNP vector plasmids of Dcytb...
October 18, 2017: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/28930516/new-targeted-therapies-and-diagnostic-methods-for-iron-overload-diseases
#13
Annita Kolnagou, Christina N Kontoghiorghe, George John Kontoghiorghes
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. Magnetic resonance imaging relaxation times T2 and T2* for monitoring iron deposits in organs and iron biomarkers such as serum ferritin and transferrin iron saturation have contributed in the elucidation of iron toxicity mechanisms and pathways, and also the evaluation of the efficacy and mode of action of chelating drugs in the treatment of diseases related to iron overload, toxicity and metabolism...
January 1, 2018: Frontiers in Bioscience (Scholar Edition)
https://www.readbyqxmd.com/read/28687159/15-years-of-the-histopathological-synovitis-score-further-development-and-review-a-diagnostic-score-for-rheumatology-and-orthopaedics
#14
REVIEW
V Krenn, G Perino, W Rüther, V T Krenn, M Huber, T Hügle, A Najm, S Müller, F Boettner, F Pessler, W Waldstein, J Kriegsmann, R Casadonte, T Häupl, S Wienert, M G Krukemeyer, S Sesselmann, S Sunitsch, R Tikhilov, L Morawietz
The histopathological synovitis score evaluates the immunological and inflammatory changes of synovitis in a graduated manner generally customary for diagnostic histopathological scores. The score results from semiquantitative evaluation of the width of the synovial surface cell layer, the cell density of the stroma and the density of the inflammatory infiltration into 4 semiquantitative levels (normal 0, mild 1, moderate 2, severe 3). The addition of these values results in a final score of 0-9 out of 9. On the basis of this summation the condition is divided into low-grade synovitis and high-grade synovitis: A synovitis score of 1 to≤4 is called low-grade synovitis (arthrosis-associated/OA synovitis, posttraumatic synovitis, meniscopathy-associated synovitis and synovitis with haemochromatosis)...
August 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28624652/association-of-transferrin-saturation-with-the-arthropathy-of-hereditary-hemochromatosis
#15
EDITORIAL
Nancy L Whalen, John K Olynyk
No abstract text is available yet for this article.
June 15, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28617785/haemochromatosis-evaluating-the-effectiveness-of-a-novel-patient-self-management-approach-to-venesection-as-blood-donation
#16
Sonam Mishra, Dalice Sim, Peter Flanagan
AIM: We set out to evaluate the effectiveness of a new model of self management of haemochromatosis, whereby patients with stable ferritin control were discharged from the New Zealand Blood Service (NZBS) therapeutic venesection clinic and educated to manage their own venesection by regular blood donation and annual serum ferritin check by their general practitioner. METHOD: Data regarding the frequency of blood donation and serum ferritin level were collected from the NZBS and Concerto records of haemochromatosis patients in the Wellington region who had been discharged back to the care of their general practitioner between January 2014 and June 2015...
June 16, 2017: New Zealand Medical Journal
https://www.readbyqxmd.com/read/28540293/altered-erythropoiesis-in-mouse-models-of-type-3-hemochromatosis
#17
R M Pellegrino, F Riondato, L Ferbo, M Boero, A Palmieri, L Osella, P Pollicino, B Miniscalco, G Saglio, A Roetto
Type 3 haemochromatosis (HFE3) is a rare genetic iron overload disease which ultimately lead to compromised organs functioning. HFE3 is caused by mutations in transferrin receptor 2 (TFR2) gene that codes for two main isoforms (Tfr2α and Tfr2β). Tfr2α is one of the hepatic regulators of iron inhibitor hepcidin. Tfr2β is an intracellular isoform of the protein involved in the regulation of iron levels in reticuloendothelial cells. It has been recently demonstrated that Tfr2 is also involved in erythropoiesis...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28514781/hepcidin-homeostasis-and-diseases-related-to-iron-metabolism
#18
REVIEW
Cadiele Oliana Reichert, Joel da Cunha, Débora Levy, Luciana Morganti Ferreira Maselli, Sérgio Paulo Bydlowski, Celso Spada
Iron is an essential metal for cell survival that is regulated by the peptide hormone hepcidin. However, its influence on certain diseases is directly related to iron metabolism or secondary to underlying diseases. Genetic alterations influence the serum hepcidin concentration, which can lead to an iron overload in tissues, as observed in haemochromatosis, in which serum hepcidin or defective hepcidin synthesis is observed. Another genetic imbalance of iron is iron-refractory anaemia, in which serum concentrations of hepcidin are increased, precluding the flow and efflux of extra- and intracellular iron...
2017: Acta Haematologica
https://www.readbyqxmd.com/read/28404095/type-3c-pancreatogenic-diabetes-mellitus-secondary-to-chronic-pancreatitis-and-pancreatic-cancer
#19
REVIEW
Phil A Hart, Melena D Bellin, Dana K Andersen, David Bradley, Zobeida Cruz-Monserrate, Christopher E Forsmark, Mark O Goodarzi, Aida Habtezion, Murray Korc, Yogish C Kudva, Stephen J Pandol, Dhiraj Yadav, Suresh T Chari
Diabetes mellitus is a group of diseases defined by persistent hyperglycaemia. Type 2 diabetes, the most prevalent form, is characterised initially by impaired insulin sensitivity and subsequently by an inadequate compensatory insulin response. Diabetes can also develop as a direct consequence of other diseases, including diseases of the exocrine pancreas. Historically, diabetes due to diseases of the exocrine pancreas was described as pancreatogenic or pancreatogenous diabetes mellitus, but recent literature refers to it as type 3c diabetes...
November 2016: Lancet. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28399358/care-for-haemoglobinopathy-patients-in-slovakia
#20
Viera Fábryová, Peter Božek, Monika Drakulová, Andrea Kollárová, Zuzana Laluhová Striežencová, Michaela Macichová, Adriena Sakalová
BACKGROUND: The paper presents the results od 22-year study of screening and follow-up of haemoglobinopathies in Slovakia, an overview of genetic mutations, the coincidence with hereditary haemochromatosis mutations, and the procedure in genetic councelling. METHODS: Between 1993-2015, in three centres in Bratislava and in one centre in Kosice, carriers of beta-thalassaemic genes or other haemoglobinopathies were searched for. Diagnosis was performed by haematologists, whereby the family history was evaluated, together with the overall clinical condition, blood count and blood smear, iron and haemolysis parameters, mutations of hereditary haemochromatosis, and haemoglobin electrophoresis testing...
March 2017: Central European Journal of Public Health
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