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Haemochromatosis

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https://www.readbyqxmd.com/read/28101309/patients-with-haemoglobinopathies-and-chronic-hepatitis-c-a-real-difficult-to-treat-population-in-2016
#1
Kalliopi Zachou, Pinelopi Arvaniti, Nikolaos K Gatselis, Kalliopi Azariadis, Georgia Papadamou, Eirini Rigopoulou, George N Dalekos
BACKGROUND & OBJECTIVES: In the past, patients with haemoglobinopathies were at high risk of acquiring hepatitis C virus (HCV) due to multiple transfusions before HCV screening. In these patients, the coexistence of haemochromatosis and chronic hepatitis C (CHC) often leads to more severe liver disease. We assessed the HCV prevalence, clinical characteristics and outcome in this setting with particular attention to the response to treatment including therapies with the new direct acting antivirals (DAAs)...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28052950/sepsis-and-siderosis-yersinia-enterocolitica-and-hereditary-haemochromatosis
#2
Phoebe A Thwaites, Marion L Woods
A 60-year-old woman was admitted with sepsis, relative bradycardia, CT evidence of numerous small liver abscesses and 'skin bronzing' consistent with hereditary haemochromatosis (HH). Yersinia enterocolitica O:9 infection was confirmed by serology specimens taken 10 days apart. Iron overload was detected, and homozygous C282Y gene mutation confirmed HH. Liver biopsy revealed grade IV siderosis with micronodular cirrhosis. Haemochromatosis is a common, inherited disorder leading to iron overload that can produce end-organ damage from excess iron deposition...
January 4, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28035629/cost-effectiveness-of-different-population-screening-strategies-for-hereditary-haemochromatosis-in-australia
#3
Barbara de Graaff, Amanda Neil, Lei Si, Kwang Chien Yee, Kristy Sanderson, Lyle Gurrin, Andrew J Palmer
INTRODUCTION: Amongst populations of northern European ancestry, HFE-associated haemochromatosis is a common genetic disorder characterised by iron overload. In the absence of treatment, excess iron is stored in parenchymal tissues, causing morbidity and mortality. Population screening programmes may increase early diagnosis and reduce associated disease. No contemporary health economic evaluation has been published for Australia. The objective of this study was to identify cost-effective screening strategies for haemochromatosis in the Australian setting...
December 29, 2016: Applied Health Economics and Health Policy
https://www.readbyqxmd.com/read/28019068/using-iron-studies-to-predict-hfe-mutations-in-new-zealand-implications-for-laboratory-testing
#4
Rebecca O'Toole, Kenneth Romeril, Collette Bromhead
BACKGROUND: The diagnosis of Hereditary Haemochromatosis (HH) is not straightforward since symptoms are often absent or non-specific. Biochemical markers of iron-overloading, may be affected by other conditions. This study measured the correlation between iron studies and HFE genotype to inform evidence-based recommendations for laboratory testing in NZ. METHODS: Results from 2388 patients genotyped for C282Y, H63D and S65C in Wellington NZ from 2007- 2013 were compared to their biochemical phenotype as quantified by SF, transferrin saturation (TS), serum iron (SI) and serum transferrin (ST)...
December 26, 2016: Internal Medicine Journal
https://www.readbyqxmd.com/read/28004554/hereditary-haemochromatosis-through-150-years
#5
Rune Johan Ulvik
No abstract text is available yet for this article.
December 2016: Tidsskrift for Den Norske Lægeforening: Tidsskrift for Praktisk Medicin, Ny Række
https://www.readbyqxmd.com/read/27973074/cost-effectiveness-of-population-screening-for-haemochromatosis-in-australia-a-state-transition-model
#6
B L de Graaff, L Si, A Neil, K C Yee, K Sanderson, L C Gurrin, A J Palmer
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27973073/an-australian-national-cost-of-illness-study-for-hereditary-haemochromatosis
#7
B L de Graaff, A Neil, K Sanderson, K C Yee, A J Palmer
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27881236/deferasirox-pharmacokinetics-evaluation-in-a-woman-with-hereditary-haemochromatosis-and-heterozygous-%C3%AE-thalassaemia
#8
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...
December 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/27873744/q-fever-hepatitis-and-endocarditis-in-the-context-of-haemochromatosis
#9
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
#10
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
#11
REVIEW
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...
December 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27634967/hereditary-haemochromatosis-presenting-with-diabetic-ketoacidosis
#12
S Adam, S Grecian, A A Syed
No abstract text is available yet for this article.
November 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
#13
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...
September 2, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27499926/rapid-and-reliable-diagnosis-of-wilson-disease-using-x-ray-fluorescence
#14
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
#15
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
#16
Muhajir Mohamed, Jehan Phillips
No abstract text is available yet for this article.
June 30, 2016: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/27300578/haemochromatosis-and-gastrointestinal-cancer
#17
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
#18
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
#19
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)...
January 2017: Scandinavian Journal of Rheumatology
https://www.readbyqxmd.com/read/27178546/genetic-explanations-discrimination-and-chronic-illness-a-qualitative-study-on-hereditary-haemochromatosis-in-germany
#20
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
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