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Haemochromatosis

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https://www.readbyqxmd.com/read/27881236/deferasirox-pharmacokinetics-evaluation-in-a-woman-with-hereditary-haemochromatosis-and-heterozygous-%C3%AE-thalassaemia
#1
Sarah Allegra, Silvia De Francia, Filomena Longo, Davide Massano, Jessica Cusato, Arianna Arduino, Elisa Pirro, Antonio Piga, Antonio D'Avolio
We present the deferasirox pharmacokinetics evaluation of a female patient on iron chelation, for the interesting findings from her genetic background (hereditary haemochromatosis and heterozygous β-thalassaemia) and clinical history (ileostomy; iron overload from transfusions). Drug plasma concentrations were measured by an HPLC-UV validated method, before and after ileum resection. Area under deferasirox concentration curve over 24h (AUC) values were determined by the mixed log-linear rule, using Kinetica software...
November 20, 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/27873744/q-fever-hepatitis-and-endocarditis-in-the-context-of-haemochromatosis
#2
Hesham Elgouhari, Mark K Huntington
Hereditary haemochromatosis is associated with increased susceptibility to some infections. We report here a case of Q fever in a patient with coexistent haemochromatosis. The literature is reviewed in regard to the effect of haemochromatosis on susceptibility to infectious disease in general and Q fever in particular. Although there is documented increased risk in these patients for some infectious conditions, a specific association with Q fever has not been previously reported. The present report raises the possibility of such a clinically relevant connection...
November 9, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27733158/key-interventions-derived-from-three-evidence-based-guidelines-for-management-and-follow-up-of-patients-with-hfe-haemochromatosis
#3
Annick Vanclooster, Hub Wollersheim, Kris Vanhaecht, Dorine Swinkels, Bert Aertgeerts, David Cassiman
BACKGROUND: HFE-related hereditary haemochromatosis (HH) is a common autosomal recessive disorder with clinical manifestations ranging from asymptomatic disease to possible life-threatening complications. Cirrhosis, hepatocellular carcinoma, diabetes mellitus or osteoporosis can develop in HH patients not treated or monitored optimally. The purpose of this study was to develop key-interventions (KI's) to measure and improve the quality of care delivered to patients diagnosed with HH. METHODS: A RAND-Modified Delphi method was used to develop KI's...
October 13, 2016: BMC Health Services Research
https://www.readbyqxmd.com/read/27723100/how-we-manage-patients-with-hereditary-haemochromatosis
#4
Eva Rombout-Sestrienkova, Marian G J van Kraaij, Ger H Koek
A number of disorders cause iron overload: some are of genetic origin, such as hereditary haemochromatosis, while others are acquired, for instance due to repeated transfusions. This article reviews the treatment options for hereditary haemochromatosis, with special attention to the use of erythrocytapheresis. In general, therapy is based on the removal of excess body iron, for which ferritin levels are used to monitor the effectiveness of treatment. For many decades phlebotomy has been widely accepted as the standard treatment...
October 10, 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27634967/hereditary-haemochromatosis-presenting-with-diabetic-ketoacidosis
#5
Safwaan Adam, Sheila Grecian, Akheel A Syed
No abstract text is available yet for this article.
September 10, 2016: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/27591041/protective-altruistic-phlebotomy-hereditary-haemochromatosis-presenting-as-hepatocellular-carcinoma-in-a-non-cirrhotic-83-year-old-man
#6
Kohtaro Ooka, Ifeyinwa Onyiuke, Xuchen Zhang, Tamar Hamosh Taddei
Hereditary haemochromatosis is a multisystem disorder of iron metabolism. Hepatic manifestations include hepatomegaly, cirrhosis and hepatocellular carcinoma. Hepatocellular carcinoma is almost always preceded by cirrhosis. We present a case of an 83-year-old man without history of liver disease or iron overload who presented with abdominal pain. Workup revealed mildly elevated transaminases, ferritin of 3996 and a solitary liver tumour. Biopsy was consistent with hepatocellular carcinoma in a background of haemosiderosis without cirrhosis...
2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27499926/rapid-and-reliable-diagnosis-of-wilson-disease-using-x-ray-fluorescence
#7
Slávka Kaščáková, Cameron M Kewish, Stéphan Rouzière, Françoise Schmitt, Rodolphe Sobesky, Joël Poupon, Christophe Sandt, Bruno Francou, Andrea Somogyi, Didier Samuel, Emmanuel Jacquemin, Anne Dubart-Kupperschmitt, Tuan Huy Nguyen, Dominique Bazin, Jean-Charles Duclos-Vallée, Catherine Guettier, François Le Naour
Wilson's disease (WD) is a rare autosomal recessive disease due to mutations of the gene encoding the copper-transporter ATP7B. The diagnosis is hampered by the variability of symptoms induced by copper accumulation, the inconstancy of the pathognomonic signs and the absence of a reliable diagnostic test. We investigated the diagnostic potential of X-ray fluorescence (XRF) that allows quantitative analysis of multiple elements. Studies were performed on animal models using Wistar rats (n = 10) and Long Evans Cinnamon (LEC) rats (n = 11), and on human samples including normal livers (n = 10), alcohol cirrhosis (n = 8), haemochromatosis (n = 10), cholestasis (n = 6) and WD (n = 22)...
July 2016: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/27444148/costs-associated-with-hereditary-haemochromatosis-in-australia-a-cost-of-illness-study
#8
Barbara de Graaff, Amanda Neil, Kristy Sanderson, Kwang Chien Yee, Andrew J Palmer
Objective The aim of the present study was to assess health sector, other sector and time-related (productivity) costs associated with hereditary haemochromatosis from societal, government and patient perspectives for the Australian setting.Methods A national web-based survey of people with haemochromatosis was conducted between November 2013 and February 2015. Participants completed a health survey and resource use diaries. Costs were calculated using a bottom-up approach and calculated in 2015 Australian dollars...
July 22, 2016: Australian Health Review: a Publication of the Australian Hospital Association
https://www.readbyqxmd.com/read/27365180/hereditary-haemochromatosis
#9
Muhajir Mohamed, Jehan Phillips
No abstract text is available yet for this article.
2016: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/27300578/haemochromatosis-and-gastrointestinal-cancer
#10
Katarina Lagergren, Karl Wahlin, Fredrik Mattsson, Derek Alderson, Jesper Lagergren
Iron overload in patients with haemochromatosis is a strong risk factor for liver cancer, but its influence on other gastrointestinal cancer risk is unclear. The aim was to assess the relative risk of luminal gastrointestinal cancer among patients diagnosed with haemochromatosis. This population-based, nationwide Swedish cohort study included patients with haemochromatosis in Sweden in 1965-2013. The incidence of gastrointestinal cancers was assessed through the Swedish Cancer Registry. The measure of relative risk was the standardised incidence ratio (SIR) with 95% confidence interval (CI), that is, the ratio of the observed number of gastrointestinal cancers in the haemochromatosis cohort divided by the expected number of such cancers, calculated from the entire corresponding background population of Sweden...
October 15, 2016: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27269766/what-is-hfe-haemochromatosis
#11
REVIEW
Tom Marjot, Jane Collier, John D Ryan
No abstract text is available yet for this article.
June 2016: British Journal of Hospital Medicine
https://www.readbyqxmd.com/read/27187562/haemochromatosis-unexplained-metacarpophalangeal-or-ankle-arthropathy-should-prompt-diagnostic-tests-findings-from-two-uk-observational-cohort-studies
#12
A Richardson, A Prideaux, P Kiely
OBJECTIVES: To examine demographic and clinical features leading to the diagnosis of hereditary haemochromatosis and assess factors that might enhance earlier diagnosis, with particular attention to arthritic symptoms. METHOD: Diagnostic features were captured directly from patients with haemochromatosis attending a specialist rheumatology clinic (group 1) and from analysis of a specifically designed questionnaire circulated to members of the UK Haemochromatosis Society (group 2)...
May 17, 2016: Scandinavian Journal of Rheumatology
https://www.readbyqxmd.com/read/27178546/genetic-explanations-discrimination-and-chronic-illness-a-qualitative-study-on-hereditary-haemochromatosis-in-germany
#13
Ulrike Manz
OBJECTIVE: The objective of this study is to explore the discriminatory impacts of genetic diagnosis for people living with the chronic illness of hereditary haemochromatosis in Germany. METHODS: Semi-structured interviews with 15 patients; all had tested positive for a genetic mutation associated with haemochromatosis and already displayed symptoms of the disease. Inductive approach, with interviews collaboratively interpreted by the research group in a vertical and horizontal analysis informed by a multi-person perspective...
May 12, 2016: Chronic Illness
https://www.readbyqxmd.com/read/27062493/increased-iron-stores-prolong-the-qt-interval-a-general-population-study-including-20%C3%A2-261-individuals-and-meta-analysis-of-thalassaemia-major
#14
Lise Fischer Henriksen, Anne-Sofie Petri, Hans Carl Hasselbalch, Jørgen Kim Kanters, Christina Ellervik
The prolongation of cardiac repolarization (QT interval) has been investigated in studies of patients with secondary iron overload. However, no previous population-based study examining the effect of increased iron stores on QT interval prolongation has previously been undertaken. We tested the hypothesis that increased iron stores and haemochromatosis genotype (genetically increased iron stores) are associated with prolongation of the QT interval. We included 20 261 individuals from the Danish General Suburban Population Study and examined differences in QT interval according to ferritin concentration, transferrin saturation, iron concentration, transferrin concentration and haemochromatosis genotype (C282Y/C282Y)...
September 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27019793/new-developments-and-controversies-in-iron-metabolism-and-iron-chelation-therapy
#15
Christina N Kontoghiorghe, George J Kontoghiorghes
Iron is essential for all organisms including microbial, cancer and human cells. More than a quarter of the human population is affected by abnormalities of iron metabolism, mainly from iron deficiency and iron overload. Iron also plays an important role in free radical pathology and oxidative damage which is observed in almost all major diseases, cancer and ageing. New developments include the complete treatment of iron overload and reduction of morbidity and mortality in thalassaemia using deferiprone and selected deferiprone/deferoxamine combinations and also the use of the maltol iron complex in the treatment of iron deficiency anaemia...
March 26, 2016: World Journal of Methodology
https://www.readbyqxmd.com/read/27007398/liver-failure-in-early-infancy-aetiology-presentation-and-outcome
#16
Rana Bitar, Rosemary Thwaites, Suzanne Davison, Sanjay Rajwal, Patricia McClean
OBJECTIVE: Acute liver failure (ALF) in early infancy is rare and challenging to recognise and manage. We aim to describe the presentation and outcome of infants with ALF according to their final aetiology in order to elucidate features to facilitate early recognition leading to prompt diagnosis and management. METHODS: All infants presenting within 120 days from birth with liver failure were included in a retrospective review over a 19 year period. The aetiology, clinical features, presenting investigations and outcome were collected...
March 21, 2016: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/26992127/the-modified-iron-avidity-index-a-promising-phenotypic-predictor-in-hfe-related-haemochromatosis
#17
Pauline L M Verhaegh, Wenke Moris, Ger H Koek, Cees Th B M van Deursen
OBJECTIVE: Phenotypes of the HFE-related haemochromatosis vary considerably, making it hard to predict the course of iron accumulation. The aim of this retrospective study was to determine if the Iron Avidity Index (IAI) is a good phenotypic predictor of the number of phlebotomies needed per year during maintenance treatment (NPDMT) in patients with homozygous p.C282Y hereditary haemochromatosis (HH). METHODS: Patients with HH homozygous for p.C282Y, on maintenance treatment for at least 1 year were included...
October 2016: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/26977326/pegvisomant-induced-cholestatic-hepatitis-in-an-acromegalic-patient-with-ugt1a1%C3%A2-%C3%A2-%C3%A2-28-mutation
#18
Maria Susana Mallea-Gil, Ignacio Bernabeu, Adriana Spiraquis, Alejandra Avangina, Lourdes Loidi, Carolina Ballarino
Pegvisomant (PEGv) is a growth hormone receptor antagonist approved for the treatment of acromegaly; one of its documented adverse effects is reversible elevation of hepatic enzymes. We report a 39-year-old male acromegalic patient with a pituitary macroadenoma who underwent transsphenoidal surgery. The patient's condition improved but GH and IGF-I levels did not normalize; as a consequence, we first administered dopamine agonists and then somatostatin receptor ligands (SRLs) with poor response. PEGv 15 mg every other day was added to lanreotide 120 mg monthly...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/26975792/haemochromatosis
#19
REVIEW
Lawrie W Powell, Rebecca C Seckington, Yves Deugnier
Haemochromatosis is now known to be an iron-storage disease with genetic heterogeneity but with a final common metabolic pathway resulting in inappropriately low production of the hormone hepcidin. This leads to increase in intestinal absorption and deposition of excessive amounts of iron in parenchymal cells which in turn results in eventual tissue damage and organ failure. A clinical enigma has been the variable clinical expression with some patients presenting with hepatic cirrhosis at a young age and others almost asymptomatic for life...
August 13, 2016: Lancet
https://www.readbyqxmd.com/read/26951056/endocrine-dysfunction-in-hereditary-hemochromatosis
#20
REVIEW
C Pelusi, D I Gasparini, N Bianchi, R Pasquali
Hereditary hemochromatosis (HH) is a genetic disorder of iron overload and subsequent organ damage. Five types of HH are known, classified by age of onset, genetic cause, clinical manifestations and mode of inheritance. Except for the rare form of juvenile haemochromatosis, symptoms do not usually appear until after decades of progressive iron loading and may be triggered by environmental and lifestyle factors. Despite the last decades discovery of genetic and phenotype diversity of HH, early studies showed a frequent involvement of the endocrine glands where diabetes and hypogonadism are the most common encountered endocrinopathies...
August 2016: Journal of Endocrinological Investigation
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