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Haemochromatosis

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https://www.readbyqxmd.com/read/29620056/haemochromatosis
#1
REVIEW
(no author information available yet)
No abstract text is available yet for this article.
April 5, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/29620054/haemochromatosis
#2
REVIEW
Pierre Brissot, Antonello Pietrangelo, Paul C Adams, Barbara de Graaff, Christine E McLaren, Olivier Loréal
Haemochromatosis is defined as systemic iron overload of genetic origin, caused by a reduction in the concentration of the iron regulatory hormone hepcidin, or a reduction in hepcidin-ferroportin binding. Hepcidin regulates the activity of ferroportin, which is the only identified cellular iron exporter. The most common form of haemochromatosis is due to homozygous mutations (specifically, the C282Y mutation) in HFE, which encodes hereditary haemochromatosis protein. Non-HFE forms of haemochromatosis due to mutations in HAMP, HJV or TFR2 are much rarer...
April 5, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/29592979/spondylodiscitis-in-a-54-year-old-female-scuba-diver
#3
Neil Tuttle, Alexandra Brelis, Rachel Brereton, Kerrie Evans
A 54-year-old woman presented to a Sports Physician with a 4-year history of haemochromatosis, and she had a medical history that included a congenital spondylolisthesis resulting in a fusion of L4-S1 at age 16 years, episodic mechanical low back pain and an absence of other significant musculoskeletal symptoms. On presentation, she reported 18 months of severe low back pain that started after a scuba diving trip. After the onset of this low back pain, she developed gastrointestinal symptoms from Salmonella The gastrointestinal symptoms improved with a course of antibiotics, but the back pain persisted in spite of analgesics, non-steroidal anti-inflammatories and several attempts at different conservative management...
March 28, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29588838/the-clinical-management-of-hereditary-haemochromatosis
#4
REVIEW
Marinos Pericleous, Claire Kelly, Charles Vijay
Hereditary haemochromatosis is an autosomal recessive disorder with variable penetrance. Most patients are C282Y homozygotes while heterozygotes or patients who are homozygous with other mutations are uncommonly affected. The true genotype to phenotype expression remains unclear. Treatment with phlebotomy is highly effective and cost-efficient while liver transplantation confers a curative option.
April 2018: Frontline Gastroenterology
https://www.readbyqxmd.com/read/29488980/the-voice-of-haemochromatosis-journeys-in-regional-australia
#5
Jessica Pearce, Robin A Ray, Suzanne McKenzie
People living with haemochromatosis had a positive attitude to the&nbsp;condition, but there were individual variations in the ways they engaged in self-management. A doctor&ndash;patient partnership is crucial in the management of haemochromatosis, especially in rural areas. Patients&#39; symptom experiences and self‑management decisions need to&nbsp;be&nbsp;seriously considered. <div class="hor-line">&nbsp;</div>.
January 2018: Australian journal of general practice
https://www.readbyqxmd.com/read/29442300/population-screening-for-hereditary-haemochromatosis-in-australia-construction-and-validation-of-a-state-transition-cost-effectiveness-model
#6
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
#7
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: Australian journal of general practice
https://www.readbyqxmd.com/read/29301806/inherited-haemochromatosis-with-c282y-mutation-in-a-patient-with-alpha-thalassaemia-a-treatment-dilemma
#8
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
#9
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...
February 2018: Vox Sanguinis
https://www.readbyqxmd.com/read/29228396/comment-on-hereditary-haemochromatosis-arthropathy-and-doppler-ultrasound-findings-of-synovitis-reply
#10
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
#11
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
#12
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-study
#13
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...
March 2018: Clinical Radiology
https://www.readbyqxmd.com/read/29120023/role-of-liver-magnetic-resonance-imaging-in-hyperferritinaemia-and-the-diagnosis-of-iron-overload
#14
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
#15
B T A de Greef, J G J Hoeijmakers, C M L Gorissen-Brouwers, M Geerts, C G Faber, I S J Merkies
BACKGROUND AND PURPOSE: 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: No associated condition could be found in 53% of the patients...
February 2018: 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
#16
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
#17
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
#18
REVIEW
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
#19
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
#20
EDITORIAL
Nancy L Whalen, John K Olynyk
No abstract text is available yet for this article.
June 15, 2017: Clinical Gastroenterology and Hepatology
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