MRI ankle and subtalar characteristics in haemochromatosis arthropathy: a case –control study
To examine the magnetic resonance imaging (MRI) features of the ankle and subtalar joints that might distinguish genetic haemochromatosis (GH). (Source: Clinical Radiology)
Source: Clinical Radiology - November 7, 2017 Category: Radiology Authors: A. Elstob, V. Ejindu, C.W. Heron, P.D.W. Kiely Source Type: research
Associated conditions in small fiber neuropathy – A large cohort study and review of the literature
ConclusionsBased on these results, we recommend screening patients with pure SFN at least for autoimmune diseases, sodium channel gene mutations, diabetes mellitus including glucose intolerance, and vitamin B12 deficiency, even when they already have a potential underlying condition at referral.This article is protected by copyright. All rights reserved. (Source: European Journal of Neurology)
Source: European Journal of Neurology - November 1, 2017 Category: Neurology Authors: Bianca T.A. de Greef, Janneke G.J. Hoeijmakers, Carla M.L. Gorissen ‐Brouwers, Margot Geerts, Catharina G. Faber, Ingemar S.J. Merkies Tags: Original Article Source Type: research
Causes of iron overload in blood donors – a clinical study
ConclusionHH‐related mutations were the most frequent cause of hyperferritinaemia in a Danish blood donor population, and it appears that several different HH‐genotypes can contribute to hyperferritinaemia. HH screening in blood donors with high ferritin levels could be warranted. HH‐related iron overload should not in itself result in donor ineligibility. (Source: Vox Sanguinis)
Source: Vox Sanguinis - November 1, 2017 Category: Hematology Authors: A. H. Laursen, O. W. Bjerrum, L. Friis ‐Hansen, T. O. Hansen, J. L. Marott, K. Magnussen Tags: Original Paper Source Type: research
Optimizing the management of hereditary haemochromatosis: the value of MRI R2* quantification to predict and monitor body iron stores
(Source: British Journal of Haematology)
Source: British Journal of Haematology - October 30, 2017 Category: Hematology Authors: Manuela Fran ça, Luis Martí‐Bonmatí, Sara Silva, Carla Oliveira, Ángel Alberich Bayarri, Filipa Vilas Boas, Helena Pessegueiro‐Miranda, Graça Porto Tags: Correspondence Source Type: research
Optimizing the management of hereditary haemochromatosis: the value of MRI R2* quantification to predict and monitor body iron stores
British Journal of Haematology, EarlyView. (Source: British Journal of Haematology)
Source: British Journal of Haematology - October 30, 2017 Category: Hematology Source Type: research
Ultrasound verified inflammation and structural damage in patients with hereditary haemochromatosis-related arthropathy
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 ar... (Source: Arthritis Research and Therapy)
Source: Arthritis Research and Therapy - October 24, 2017 Category: Rheumatology Authors: 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 and Joc Tags: Research article Source Type: research
New targeted therapies and diagnostic methods for iron overload diseases.
Authors: Kolnagou A, Kontoghiorghe CN, Kontoghiorghes GJ
Abstract
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...
Source: Frontiers in Bioscience - Scholar - September 22, 2017 Category: Biomedical Science Tags: Front Biosci (Schol Ed) Source Type: research
Bilateral anterior ischaemic optic neuropathy in a patient with haemochromatosis
Publication date: Available online 29 July 2017 Source:Neurología (English Edition) Author(s): P. Cifuentes-Canorea, R. Gutierrez-Bonet, J. García-Feijoo, E. Santos-Bueso (Source: Neurologia)
Source: Neurologia - July 29, 2017 Category: Neurology Source Type: research
Haemochromatosis: evaluating the effectiveness of a novel patient self-management approach to venesection as blood donation.
CONCLUSION: The new model of self management was effective for the majority of patients who were discharged from the therapeutic venesection clinic. Longer follow up is required to assess the overall pattern of ferritin control in patients who self manage their haemochromatosis by regular blood donation.
PMID: 28617785 [PubMed - in process] (Source: New Zealand Medical Journal)
Source: New Zealand Medical Journal - June 16, 2017 Category: General Medicine Tags: N Z Med J Source Type: research
Association of transferrin saturation with the arthropathy of hereditary haemochromatosis
(Source: Clinical Gastroenterology and Hepatology)
Source: Clinical Gastroenterology and Hepatology - June 14, 2017 Category: Gastroenterology Authors: N.L. Whalen, J.K. Olynyk Source Type: research
Altered Erythropoiesis in Mouse Models of Type 3 Hemochromatosis.
This study aims to further investigate Tfr2 erythropoietic role by evaluating the erythropoiesis of two Tfr2 murine models wherein either one or both of Tfr2 isoforms have been selectively silenced (Tfr2 KI and Tfr2 KO). The evaluations were performed in bone marrow and spleen, in 14 days' and 10 weeks' old mice, to assess erythropoiesis in young versus adult animals. The lack of Tfr2α leads to macrocytosis with low reticulocyte number and increased hemoglobin values, together with an anticipation of adult BM erythropoiesis and an increased splenic erythropoiesis. On the other hand, lack of Tfr2β (Tfr2 KI mice) causes an...
Source: Biomed Res - May 27, 2017 Category: Research Authors: Pellegrino RM, Riondato F, Ferbo L, Boero M, Palmieri A, Osella L, Pollicino P, Miniscalco B, Saglio G, Roetto A Tags: Biomed Res Int Source Type: research
15 years of the histopathological synovitis score, further development and review: A diagnostic score for rheumatology and orthopaedics
Publication date: Available online 19 May 2017 Source:Pathology - Research and Practice Author(s): 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 sy...
Source: Pathology Research and Practice - May 20, 2017 Category: Pathology Source Type: research
Hepcidin: Homeostasis and Diseases Related to Iron Metabolism.
Abstract
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 intracellula...
Source: Acta Haematologica - May 18, 2017 Category: Hematology Authors: Reichert CO, da Cunha J, Levy D, Maselli LMF, Bydlowski SP, Spada C Tags: Acta Haematol Source Type: research
Hepcidin: Homeostasis and Diseases Related to Iron Metabolism
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. During the pathoge...
Source: Acta Haematologica - May 17, 2017 Category: Hematology Source Type: research
Care for Haemoglobinopathy Patients in Slovakia.
CONCLUSIONS: The study showed that there is a higher number of heterozygotes for beta-thalassaemia and rarely haemoglobinopathies in Slovakia. Over the past years, we have recorded an increase number of foreigners coming to our country. It is necessary to continue in search of pathological gene carriers to avoid serious forms of haemoglobinopathies.
PMID: 28399358 [PubMed - in process] (Source: Central European Journal of Public Health)
Source: Central European Journal of Public Health - April 13, 2017 Category: Global & Universal Tags: Cent Eur J Public Health Source Type: research
