862 results match your criteria Hemochromatosis Imaging


Type 4B hereditary hemochromatosis due to heterozygous p.D157A mutation in SLC40A1 complicated with hypopituitarism.

Med Mol Morphol 2020 Jun 30. Epub 2020 Jun 30.

Third Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, 1-1 Iseigaoka, Yahatanishi-ku, Kitakyushu, 807-8555, Japan.

Hemochromatosis is a clinical syndrome characterized by iron overload in various organs. We present here a case of type 4 hereditary hemochromatosis due to heterozygous mutation in SLC40A1 gene (p.D157A). Read More

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http://dx.doi.org/10.1007/s00795-020-00259-1DOI Listing

MR imaging assessment and quantification of liver iron.

Abdom Radiol (NY) 2020 May 20. Epub 2020 May 20.

Radiology Department - Centro Hospitalar Universitário do Porto, Largo Prof Abel Salazar, 4099-001, Porto, Portugal.

Iron overload is a common clinical problem resulting from hereditary hemochromatosis or secondary hemosiderosis (mainly associated with transfusion therapy), being also associated with chronic liver diseases and metabolic disorders. Excess of iron accumulates in organs like the liver, pancreas and heart. Without treatment, patients with iron overload disorders will develop liver cirrhosis, diabetes and cardiomyopathy. Read More

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http://dx.doi.org/10.1007/s00261-020-02574-8DOI Listing

Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism.

Am J Case Rep 2020 Apr 24;21:e923108. Epub 2020 Apr 24.

Endocrinology Unit, University Hospital of the Federal University of Maranhão (HUUFMA), São Luís, Brazil.

BACKGROUND Juvenile hemochromatosis is a rare genetic disease that leads to intense iron accumulation. The disease onset usually occurs before the third decade of life and causes severe dysfunction in various organs. The most classical clinical findings are hypogonadotropic hypogonadism, cardiomyopathy, liver fibrosis, glycemic changes, arthropathy and skin pigmentation. Read More

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http://dx.doi.org/10.12659/AJCR.923108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200091PMC

Bull's eye maculopathy associated with hereditary hemochromatosis.

Am J Ophthalmol Case Rep 2020 Jun 20;18:100674. Epub 2020 Mar 20.

Casey Eye Institute, Oregon Health & Science University, 515 SW Campus Drive, Portland, OR, 97239, USA.

Purpose: To report a case of bull's eye maculopathy, a novel finding in a patient with iron overload secondary to hereditary hemochromatosis with a homozygous mutation of the gene.

Observations: A 39-year-old man with recently diagnosed hereditary hemochromatosis undergoing treatment by serial phlebotomy presented with bilateral progressive blurry vision and recent onset of photopsias and headaches. Fundus examination revealed a symmetric bull's eye maculopathy with photoreceptor loss and retinal pigment epithelium transmission defects in the area of speckled hyper- and hypo-pigmentation by multimodal imaging. Read More

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http://dx.doi.org/10.1016/j.ajoc.2020.100674DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7109569PMC

Inherited iron overload disorders.

Transl Gastroenterol Hepatol 2020 5;5:25. Epub 2020 Apr 5.

Centre for Rare Diseases, Disorder of Iron Metabolism, ASST-Monza, S. Gerardo Hospital, Monza, Italy.

Hereditary iron overload includes several disorders characterized by iron accumulation in tissues, organs, or even single cells or subcellular compartments. They are determined by mutations in genes directly involved in hepcidin regulation, cellular iron uptake, management and export, iron transport and storage. Systemic forms are characterized by increased serum ferritin with or without high transferrin saturation, and with or without functional iron deficient anemia. Read More

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http://dx.doi.org/10.21037/tgh.2019.11.15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063521PMC

Hemochromatosis As an Unusual Cause of Pancreatitis in an African-American Female of Child-bearing Age.

Cureus 2020 Mar 4;12(3):e7179. Epub 2020 Mar 4.

Gastroenterology and Hepatology, Cleveland Clinic Foundation, Cleveland, USA.

Hemochromatosis is a disorder of iron overload whereby there is toxic deposition of iron in various tissues and organs of the body. It can either be hereditary or secondary to some other underlying cause. Patients with mutations in the HFE gene are often predisposed to developing this disorder. Read More

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http://dx.doi.org/10.7759/cureus.7179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7123287PMC

Positron emission tomography-magnetic resonance liver parenchyma attenuation correction artifact in secondary hemochromatosis.

World J Nucl Med 2020 Jan-Mar;19(1):85-88. Epub 2020 Jan 24.

Department of Radiology, Stony Brook University Hospital, NY, USA.

Positron emission tomography-magnetic resonance (PET-MR) hybrid imaging is a relatively new imaging modality combining the superb MR contrast capabilities among different soft-tissue structures with the high sensitivity of PET functional imaging. With the development of any new technology, a variety of limitations will be encountered including the introduction of new types of artifacts. In this case report, we present a restaging PET-MR scan for multiple myeloma that showed severely decreased fluorodeoxyglucose activity in the liver on the PET attenuated corrected images. Read More

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http://dx.doi.org/10.4103/wjnm.WJNM_10_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7067121PMC
January 2020

Difficult diagnosis of cardiac haemochromatosis: a case report.

Eur Heart J Case Rep 2020 Feb 13;4(1):1-6. Epub 2020 Feb 13.

Clinic of Cardiac and Vascular Diseases, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Santariškių 2, LT-08661 Vilnius, Lithuania.

Background: Primary iron overload cardiomyopathy is an important and potentially preventable cause of heart failure (HF), usually manifesting in the 4-5th decade of life. Patients may be asymptomatic early in the disease with hidden progression of cardiac dysfunction. The challenge of timely detection is an awareness of this systemic disorder and an adequate degree of clinical vigilance. Read More

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http://dx.doi.org/10.1093/ehjcr/ytaa012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7047056PMC
February 2020

Hepatocellular Carcinoma in Asia: A Challenging Situation.

Euroasian J Hepatogastroenterol 2019 Jan-Jun;9(1):27-33

Department of Medicine, Baqai Medical University, Karachi, Pakistan.

Amongst the primary tumors of the liver, hepatocellular carcinoma (HCC) is the most common. It is also one of the most prevalent types of cancers in Asia. Mostly, HCC occurs on a background of chronic liver disease and liver cirrhosis; however, de novo HCCs can also arise in apparently normal looking livers on imaging. Read More

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http://dx.doi.org/10.5005/jp-journals-10018-1292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6969322PMC
January 2020

Pancytopenia, panhypopituitarism and liver cirrhosis: analysis of a difficult clinical case.

Vnitr Lek 2019 ;65(11):715-720

Panhypopituitarism following craniopharyngioma resection has systemic impact with potential influence on physio-logical hematopoiesis. There is a growing body of evidence of liver fibrosis/cirrhosis risk development due to altered metabolism and lipid accumulation. The authors present a case report of a woman with a history of craniopharyngioma resection followed by aggravating pancytopenia with suspected indolent lymphoproliferative disorder and possible acquired bone marrow aplasia syndrome due to paroxysmal nocturnal hemoglobinuria. Read More

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January 2020

Hepatic focal nodular hyperplasia after pediatric hematopoietic stem cell transplantation: The impact of hormonal replacement therapy and iron overload.

Pediatr Blood Cancer 2020 04 30;67(4):e28137. Epub 2019 Dec 30.

Clinica Pediatrica, Università degli Studi di Milano Bicocca, Fondazione Monza e Brianza per il Bambino e la sua Mamma, Ospedale San Gerardo, Monza, Italy.

Background: The advent of techniques for the assessment of iron overload (liver T2*-MRI) has led to the awareness that focal nodular hyperplasia (FNH) represents a possible incidental finding after hematopoietic stem cell transplantation (HSCT), though its pathogenesis is still unclear.

Methods: We performed a retrospective analysis of the liver T2*-MRI scans performed between 2013 and 2018 in a single pediatric HSCT Unit and recorded the number of patients with FNH (group A). Patients incidentally diagnosed with FNH at imaging performed for different clinical indications were included in group B. Read More

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http://dx.doi.org/10.1002/pbc.28137DOI Listing

Cardiac T * mapping: Techniques and clinical applications.

J Magn Reson Imaging 2019 Dec 14. Epub 2019 Dec 14.

University of Groningen, Groningen, The Netherlands.

Cardiac T * mapping is a noninvasive MRI method that is used to identify myocardial iron accumulation in several iron storage diseases such as hereditary hemochromatosis, sickle cell disease, and β-thalassemia major. The method has improved over the years in terms of MR acquisition, focus on relative artifact-free myocardium regions, and T * quantification. Several improvement factors involved include blood pool signal suppression, the reproducibility of T * measurement as affected by scanner hardware, and acquisition software. Read More

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http://dx.doi.org/10.1002/jmri.27023DOI Listing
December 2019

Bile duct involvement by hepatocellular carcinoma: A rare occurrence and poor prognostic indicator in bile duct brushing samples.

Cancer Cytopathol 2019 Nov 13;127(11):691-699. Epub 2019 Sep 13.

Department of Pathology, Emory University Hospital, Atlanta, Georgia.

Background: Hepatocellular carcinoma (HCC) rarely involves the biliary tree and may be inadvertently sampled on bile duct brushings (BDBs).

Methods: The pathology archives of 5 institutions were searched for BDBs with HCC involvement.

Results: A total of 17 BDBs from 14 patients were obtained. Read More

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http://dx.doi.org/10.1002/cncy.22185DOI Listing
November 2019
4 Reads

Normal myocardial native T values in children using single-point saturation recovery and modified look-locker inversion recovery (MOLLI).

J Magn Reson Imaging 2020 Mar 11;51(3):897-903. Epub 2019 Sep 11.

Pediatric Cardiology, Pediatric Heart Center, Department of Surgery, University Children's Hospital Zurich, Switzerland.

Background: T mapping is useful to quantify diffuse myocardial processes such as fibrosis, edema, storage disorders, or hemochromatosis. Normal pediatric myocardial T values are scarce using modified Look-Locker inversion recovery (MOLLI) sequences and unavailable using Smart1Map, a single-point saturation recovery sequence that measures true T .

Purpose/hypothesis: To establish normal pediatric myocardial T values by Smart1Map and to compare them with T by MOLLI. Read More

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http://dx.doi.org/10.1002/jmri.26910DOI Listing
March 2020
2 Reads

Hepatic iron overload identified by magnetic resonance imaging-based T2* is a predictor of non-diagnostic elastography.

Quant Imaging Med Surg 2019 Jun;9(6):921-927

Department of Gastroenterology and Hepatology, Mayo Clinic, Jacksonville, FL, USA.

Background: Magnetic resonance elastography (MRE) is a non-invasive test used to assess liver stiffness and fibrosis in chronic liver disease, which includes systemic iron overload. However, iron deposition by itself is associated with technical failure of MRE of the liver which necessitates the use of invasive liver biopsy as an alternative monitoring method for these patients. T2*-weighted magnetic resonance imaging (T2*) is a reliable modality to asses for hepatic as well as total body iron overload. Read More

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http://dx.doi.org/10.21037/qims.2019.05.13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6629566PMC
June 2019
5 Reads

Genetic studies of abdominal MRI data identify genes regulating hepcidin as major determinants of liver iron concentration.

J Hepatol 2019 09 19;71(3):594-602. Epub 2019 Jun 19.

Research Centre for Optimal Health, School of Life Sciences, University of Westminster, London, UK; Genetics of Complex Traits, College of Medicine and Health, University of Exeter, Exeter, UK. Electronic address:

Background & Aims: Excess liver iron content is common and is linked to the risk of hepatic and extrahepatic diseases. We aimed to identify genetic variants influencing liver iron content and use genetics to understand its link to other traits and diseases.

Methods: First, we performed a genome-wide association study (GWAS) in 8,289 individuals from UK Biobank, whose liver iron level had been quantified by magnetic resonance imaging, before validating our findings in an independent cohort (n = 1,513 from IMI DIRECT). Read More

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http://dx.doi.org/10.1016/j.jhep.2019.05.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694204PMC
September 2019
19 Reads
11.336 Impact Factor

Choosing Wisely Canada-Top Five List in Hepatology: Official Position Statement of the Canadian Association for the Study of the Liver (CASL) and Choosing Wisely Canada (CWC).

Ann Hepatol 2019 Jan - Feb;18(1):165-171

Francis Family Liver Clinic, University of Toronto, Canada, Canada.

Introduction And Aim: The prevalence and incidence of chronic liver disease is increasing resulting, in substantial direct and indirect medical costs. Overuse of investigations, treatments and procedures contribute to rising health care costs and can expose patients to unnecessary harm and delay in receiving care. The Choosing Wisely Canada (CWC) campaign has encouraged professional societies to develop statements that are directly actionable by their members in an effort to promote higher-value health care that will lead to downstream effect on how other practitioners make decisions. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S16652681193031
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http://dx.doi.org/10.5604/01.3001.0012.7908DOI Listing
April 2020
21 Reads

Improvements in cardiac function detected using echocardiography in patients with hereditary haemochromatosis.

Ir J Med Sci 2020 Feb 20;189(1):109-117. Epub 2019 May 20.

Institute of Cardiovascular Science, St James Hospital, Dublin 8, Ireland.

Background: Hereditary haemochromatosis is often not diagnosed until adulthood. Iron overload cardiomyopathy initially results in diastolic dysfunction and can result in arrhythmias and irreversible cardiac failure if untreated. The aim of this study was to investigate whether patients with newly diagnosed hereditary haemochromatosis without signs of heart failure exhibit subclinical alterations of cardiac function and to determine if cardiac function improved after 1 year of venesection. Read More

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http://dx.doi.org/10.1007/s11845-019-02032-5DOI Listing
February 2020
8 Reads

VMP35 MNC, a novel iron-free supplement, enhances cytoprotection against anemia in human subjects: a novel hypothesis.

Food Nutr Res 2019 9;63. Epub 2019 May 9.

Dr. Herbs LLC, R&D, Concord, CA, USA.

Background: The American Society of Hematology reported that according to the National Heart, Lung, and Blood Institute (NHLBI) anemia is the most common blood disorder, which affects more than 3 million Americans, while the Global Burden of Disease 2016 (GBD 2016) reported that iron deficiency anemia (IDA) is the leading cause of anemia, which affects 1.93 billion people worldwide. Anemia is intricately linked to chronic inflammation, chronic kidney disease, gastrointestinal and gynecological malignancies, and autoimmune disorders. Read More

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http://dx.doi.org/10.29219/fnr.v63.3410DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6510707PMC
May 2019
10 Reads

Deferiprone exerts a dose-dependent reduction of liver iron in adults with iron overload.

Eur J Haematol 2019 Aug 30;103(2):80-87. Epub 2019 May 30.

Division of Hematology, University of Toronto, Toronto, Ontario, Canada.

Objective: While doses of deferiprone up to 75 mg/kg/d have been demonstrated to be effective in cardiac iron removal, their efficacy in the reduction of liver iron has been equivocal. The aim of this study was to evaluate the effect of deferiprone dose on liver iron concentrations in adult iron overload patients.

Methods: A single-centered, retrospective, cohort observational study was conducted involving 71 patients exposed to deferiprone doses up to 113 mg/kg/d between January 2009 and June 2015 for a median of 33 months. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/ejh.13244
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http://dx.doi.org/10.1111/ejh.13244DOI Listing
August 2019
21 Reads

John's story - living with hereditary haemochromatosis.

Rural Remote Health 2019 05 5;19(2):4844. Epub 2019 May 5.

Arran Medical Group, Lamlash, Isle of Arran, United Kingdom

Iron can accumulate in the body due to several causes, resulting in iron overload syndrome. The most common cause is hereditary haemochromatosis (HH), a genetic disorder triggered by inactivation of the iron hormone hepcidin, which results in hyperferraemia and excessive tissue iron deposition. Other causes include repeated blood transfusion, iron-loading anaemias and some chronic liver diseases. Read More

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http://dx.doi.org/10.22605/RRH4844DOI Listing
May 2019
7 Reads

Melanonychia striata: clarifying behind the Black Curtain. A review on clinical evaluation and management of the 21st century.

Int J Dermatol 2019 Nov 21;58(11):1239-1245. Epub 2019 Apr 21.

Departments of Pediatrics, Laboratory Medicine, and Pathology, The University of Alberta, Edmonton, Alberta, Canada.

Melanonychia striata is characterized by a tan, brown, or black longitudinal streak within the nail plate that runs from the proximal nail fold to the distal part of the nail plate. Melanonychia striata is due to increased activity of melanocytes or melanocytic hyperplasia in the nail matrix with subsequently increased melanin deposition in the nail plate. The most common cause of melanonychia striata associated with melanocytic activation is ethnic melanonychia which occurs in dark-skinned individuals. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/ijd.14464
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http://dx.doi.org/10.1111/ijd.14464DOI Listing
November 2019
26 Reads
1.227 Impact Factor

Heart failure in cardiomyopathies: a position paper from the Heart Failure Association of the European Society of Cardiology.

Eur J Heart Fail 2019 May 16;21(5):553-576. Epub 2019 Apr 16.

Berlin-Brandenburg Center for Regenerative Therapies, Deutsches Zentrum für Herz-Kreislauf-Forschung (DZHK) Berlin, Department of Cardiology, Campus Virchow Klinikum, Charite - Universitaetsmedizin Berlin, Berlin, Germany.

Cardiomyopathies are a heterogeneous group of heart muscle diseases and an important cause of heart failure (HF). Current knowledge on incidence, pathophysiology and natural history of HF in cardiomyopathies is limited, and distinct features of their therapeutic responses have not been systematically addressed. Therefore, this position paper focuses on epidemiology, pathophysiology, natural history and latest developments in treatment of HF in patients with dilated (DCM), hypertrophic (HCM) and restrictive (RCM) cardiomyopathies. Read More

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http://dx.doi.org/10.1002/ejhf.1461DOI Listing
May 2019
34 Reads
6.526 Impact Factor

Iron overload in congenital haemolytic anaemias: role of hepcidin and cytokines and predictive value of ferritin and transferrin saturation.

Br J Haematol 2019 05 3;185(3):523-531. Epub 2019 Mar 3.

Dipartimento di Scienze Cliniche e Comunità, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico - Università degli studi di Milano, Milano, Italy.

Iron overload (IO) is poorly investigated in the congenital haemolytic anaemias (CHAs), a heterogeneous group of rare inherited diseases encompassing abnormalities of the erythrocyte membrane and metabolism, and defects of the erythropoiesis. In this study we systematically evaluated routine iron parameters and cardiac and hepatic magnetic resonance imaging, together with erythropoietin, hepcidin, non-transferrin bound iron (NTBI), and cytokine serum levels in patients with different CHAs. We found that 40% of patients had a liver iron concentration (LIC) >4 mg Fe/g dry weight. Read More

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http://dx.doi.org/10.1111/bjh.15811DOI Listing
May 2019
10 Reads

Real impact of liver cirrhosis on the development of hepatocellular carcinoma in various liver diseases-meta-analytic assessment.

Cancer Med 2019 03 21;8(3):1054-1065. Epub 2019 Feb 21.

Hatano Red Cross Hospital, Kanagawa, Japan.

Background: It is well known that the incidence of developing hepatocelluler carcinoma (HCC) is increased in liver cirrhosis of different etiologies. However, comparison of HCC incidence in various liver diseases has not yet been estimated. We surveyed this comparison. Read More

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http://dx.doi.org/10.1002/cam4.1998DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6434205PMC
March 2019
7 Reads

μXRF and LA-ICP-TQMS for quantitative bioimaging of iron in organ samples of a hemochromatosis model.

J Trace Elem Med Biol 2019 Mar 22;52:166-175. Epub 2018 Dec 22.

University of Münster, Institute of Inorganic and Analytical Chemistry, Corrensstraße 30, 48149 Münster, Germany. Electronic address:

Hereditary hemochromatosis is the most common autosomal recessive genetic disorder of the iron metabolism. Iron accumulation in various organs, especially in liver and pancreas leads to diseases and may cause organ failure. In this study, methods for elemental bioimaging by means of quantitative micro X-ray fluorescence analysis (μXRF) and laser ablation-inductively coupled plasma-triple quadrupole mass spectrometry (LA-ICP-TQMS) were developed and applied to investigate the pathophysiological development of iron accumulation in murine tissue based on animals with an iron-overload phenotype caused by a hepatocyte-specific genetic mutation. Read More

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http://dx.doi.org/10.1016/j.jtemb.2018.12.012DOI Listing
March 2019
14 Reads
2.491 Impact Factor

Brain iron accumulation in a blood donor family with restless legs syndrome.

Rev Neurol 2019 Feb;68(3):107-110

Hospital General Universitario Gregorio Maranon, Madrid, Espana.

Introduction: The pathophysiology of restless legs syndrome (RLS) is complex. Secondary RLS with iron deficiency -which suggests disturbed iron homeostasis- remains to be elucidated.

Case Reports: We report the findings from a unique blood donor family with RLS. Read More

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February 2019
4 Reads

Insulin resistance and NAFLD: Relationship with intrahepatic iron and serum TNF-α using 1H MR spectroscopy and MRI.

Diabetes Metab 2019 10 17;45(5):473-479. Epub 2019 Jan 17.

Department of Gastroenterology, University Hospital San Cecilio, Department of Medicine, University of Granada, Spain.

Aim: The association of non-alcoholic fatty liver disease (NAFLD) with insulin resistance (IR) is well established, yet little is known of their possible relationship with intrahepatic iron and serum tumour necrosis factor (TNF)-α concentrations in adults without diabetes. Thus, this study looked at the relationship of intrahepatic iron and serum TNF-α with intrahepatic triglycerides and IR in non-diabetic adults.

Methods: In this cross-sectional study of 104 healthy non-diabetic Caucasians, a quantitative magnetic resonance (MR) imaging T2 gradient-echo technique was used to measure hepatic iron, with 1H-MR spectroscopy used to measure hepatic triglycerides. Read More

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http://dx.doi.org/10.1016/j.diabet.2019.01.005DOI Listing
October 2019
8 Reads

The effect of vitamin D pathway genes and deferasirox pharmacogenetics on liver iron in thalassaemia major patients.

Pharmacogenomics J 2019 10 17;19(5):417-427. Epub 2019 Jan 17.

Department of Medical Sciences, University of Turin, Amedeo di Savoia Hospital, 10149, Turin, Italy.

Monitoring and treating iron overload is crucial in transfusion-dependent thalassaemia patients. Liver stiffness measurement by transient elastography and T2* magnetic resonance imaging represent non-invasive ways to evaluate the adequacy of the iron chelation treatment. We explored the role of single nucleotide polymorphisms involved in vitamin D metabolism, transport and activity, and in deferasirox metabolism on liver iron burden parameters. Read More

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http://dx.doi.org/10.1038/s41397-019-0071-7DOI Listing
October 2019
27 Reads

Measurement of liver iron by magnetic resonance imaging in the UK Biobank population.

PLoS One 2018 21;13(12):e0209340. Epub 2018 Dec 21.

Research Centre for Optimal Health, School of Life Sciences, University of Westminster, London, United Kingdom.

The burden of liver disease continues to increase in the UK, with liver cirrhosis reported to be the third most common cause of premature death. Iron overload, a condition that impacts liver health, was traditionally associated with genetic disorders such as hereditary haemochromatosis, however, it is now increasingly associated with obesity, type-2 diabetes and non-alcoholic fatty liver disease. The aim of this study was to assess the prevalence of elevated levels of liver iron within the UK Biobank imaging study in a cohort of 9108 individuals. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0209340PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303057PMC
May 2019
45 Reads

Investigating the ability of non-invasive measures of cardiac output to detect a reduction in blood volume resulting from venesection in spontaneously breathing subjects.

Scand J Trauma Resusc Emerg Med 2018 Dec 4;26(1):104. Epub 2018 Dec 4.

Emergency Department, Royal London Hospital, Barts Health NHS Trust, London, UK.

Background: Monitoring cardiac output (CO) in shocked patients provides key etiological information and can be used to guide fluid resuscitation to improve patient outcomes. Previously this relied on invasive monitoring, restricting its use in the Emergency Department (ED) setting. The development of non-invasive devices (such as LiDCOrapid with CNAP™ and USCOM 1A), and ultrasound based measurements (Transthoracic echocardiography, inferior vena cava collapsibility index (IVCCI), carotid artery blood flow (CABF) and carotid artery corrected flow time (FTc)) enables stroke volume (SV) and CO to be measured non-invasively in the ED. Read More

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https://sjtrem.biomedcentral.com/articles/10.1186/s13049-018
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http://dx.doi.org/10.1186/s13049-018-0571-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280441PMC
December 2018
13 Reads

Quantification of liver iron overload disease with laser ablation inductively coupled plasma mass spectrometry.

BMC Med Imaging 2018 12 4;18(1):51. Epub 2018 Dec 4.

Institute of Molecular Pathobiochemistry, Experimental Gene Therapy and Clinical Chemistry (IFMPEGKC), RWTH University Hospital Aachen, Pauwelsstr 30, D-52074, Aachen, Germany.

Background: Hereditary hemochromatosis is the most frequent, identified, genetic disorder in Caucasians affecting about 1 in 1000 people of Northern European ancestry, where the associated genetic defect (homozygosity for the p.Cys282Tyr polymorphism in the HFE gene) has a prevalence of approximately 1:200. The disorder is characterized by excess iron stores in the body. Read More

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http://dx.doi.org/10.1186/s12880-018-0291-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278171PMC
December 2018
28 Reads

Distinct Iron Deposition Profiles of Liver Zones in Various Models with Iron Homeostasis Disorders.

Adv Sci (Weinh) 2018 Nov 12;5(11):1800866. Epub 2018 Oct 12.

State Key Laboratory of Environmental Chemistry and Ecotoxicology Research Center for Eco-Environmental Sciences Chinese Academy of Sciences Beijing 100085 China.

Determination of iron accumulation is crucial in diagnosing the occurrence and progression of many liver- and iron-related diseases. Thus far, little is known about the profiles of iron deposition in different liver zones, particularly under conditions with disordered iron homeostasis. Here, uneven iron distribution in livers of patients with hereditary hemochromatosis (HH) is uncovered, showing the region with the highest iron concentration near the entrance site of the portal vein and hepatic artery in contrast to the sites with the lowest iron concentration close to the distal edge. Read More

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http://doi.wiley.com/10.1002/advs.201800866
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http://dx.doi.org/10.1002/advs.201800866DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247051PMC
November 2018
42 Reads

Prenatal imaging features suggestive of liver gestational allo immune disease.

J Gynecol Obstet Hum Reprod 2019 Jan 19;48(1):61-64. Epub 2018 Nov 19.

Fetal Medicine unit, Université Claude Bernard, Lyon 1, Hospices Civils de Lyon, Hôpital Femme Mère Enfant, 59 boulevard Pinel, 69500, Bron, Lyon, France. Electronic address:

We report prenatal imaging features of four cases of neonatal hemochromatosis due to an alloimmune disease. All cases exhibited intra uterine growth restriction (IUGR) without arguments for a vascular etiology, associated with oligohydramnios. Placental hydrops was present in 75% of cases. Read More

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http://dx.doi.org/10.1016/j.jogoh.2018.11.005DOI Listing
January 2019
35 Reads

Hepatocellular Carcinoma Arising in a Non-cirrhotic Liver with Secondary Hemochromatosis.

Intern Med 2019 Mar 19;58(5):661-665. Epub 2018 Nov 19.

Department of Gastroenterology and Medicine, Fukuoka University Faculty of Medicine, Japan.

A 70-year-old man was admitted for treatment of a single liver nodule that was detected by contrast-enhanced computed tomography. Twenty years earlier, the patient had been diagnosed with myelodysplastic syndrome-refractory anemia and secondary hemochromatosis but had not received erythrocyte transfusions. The current histological, computed tomography, and magnetic resonance imaging findings revealed hepatocellular carcinoma (HCC) and non-cirrhotic liver hemochromatosis. Read More

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https://www.jstage.jst.go.jp/article/internalmedicine/advpub
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http://dx.doi.org/10.2169/internalmedicine.0973-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443541PMC
March 2019
40 Reads

Hemochromatosis associated with cholelithiasis as a cause of hydrops fetalis and stillbirth: Prenatal diagnosis.

J Clin Ultrasound 2019 Jan 30;47(1):47-50. Epub 2018 Oct 30.

Department of Embryo-Fetopathology, Maternity and Neonatology Center, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.

Prenatal diagnosis of neonatal hemochromatosis (NH) is usually raised in front of fetal hepatomegaly and heterogeneous liver architecture. We describe a novel sonographic feature that may be associated with NH. Ultrasound demonstrated reticulonodular liver and distended gallbladder with multiple gallstones in a hydropic fetus. Read More

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http://dx.doi.org/10.1002/jcu.22653DOI Listing
January 2019
20 Reads

Iron-Containing Abdominal Pathologies: Exploiting Magnetic Susceptibility Artifact on Dual-Echo Gradient-Echo Magnetic Resonance Imaging.

J Comput Assist Tomogr 2019 Mar/Apr;43(2):165-175

Department of Radiology, The University of Texas MD Anderson Cancer Center, Houston, TX.

A multitude of pathologic entities involve abnormal iron deposition in the abdomen. These lesions demonstrate decreased signal on longer magnetic resonance sequences with longer echo time due to T2* effect. Dual-echo gradient-echo sequences demonstrate increased susceptibility artifact with longer echo sequences. Read More

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http://dx.doi.org/10.1097/RCT.0000000000000808DOI Listing
April 2019
10 Reads

Opportunistic Screening for Hereditary Hemochromatosis With Unenhanced CT: Determination of an Optimal Liver Attenuation Threshold.

AJR Am J Roentgenol 2018 12 9;211(6):1206-1211. Epub 2018 Oct 9.

1 Department of Radiology, University of Wisconsin School of Medicine and Public Health, 600 Highland Ave, Madison, WI 53792.

Objective: The purpose of this study was to assess whether a specific liver attenuation threshold for unenhanced CT allows both sensitive opportunistic detection of unsuspected hereditary hemochromatosis and low overall screening test-positive rates.

Materials And Methods: We used a standard ROI placement method on unenhanced CT studies of 3357 consecutive adults (mean age, 57.0 years) with no symptoms of liver disease who underwent colorectal screening. Read More

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https://www.ajronline.org/doi/10.2214/AJR.18.19690
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http://dx.doi.org/10.2214/AJR.18.19690DOI Listing
December 2018
2 Reads

Can two-dimensional speckle tracking echocardiography be useful for left ventricular assessment in the early stages of hereditary haemochromatosis?

Echocardiography 2018 11 25;35(11):1772-1781. Epub 2018 Sep 25.

II Department of Cardiology and Electrotherapy, Medical University of Gdansk, Gdansk, Poland.

Background: Hereditary haemochromatosis (HH) is a common inherited disease. Abnormally increased intestinal iron absorption and accelerated recycling of iron by macrophages lead to progressive body iron accumulation and the generation of oxidative stress. In the late stages, iron overload can lead to dysfunction of the left ventricle (LV). Read More

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http://dx.doi.org/10.1111/echo.14141DOI Listing
November 2018
15 Reads

Diagnosis and Management of Genetic Iron Overload Disorders.

J Gen Intern Med 2018 12 17;33(12):2230-2236. Epub 2018 Sep 17.

Department of Hematology/Oncology, Mayo Clinic, Jacksonville, FL, USA.

Iron overload disorders lead to excess iron deposition in the body, which can occur as a result of genetic or secondary causes. Genetic iron overload, referred to as hereditary hemochromatosis, may present as a common autosomal recessive mutation or as one of several uncommon mutations. Secondary iron overload may result from frequent blood transfusions, exogenous iron intake, or certain hematological diseases such as dyserythropoietic syndrome or chronic hemolytic anemia. Read More

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http://dx.doi.org/10.1007/s11606-018-4669-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6258594PMC
December 2018
12 Reads

Haemochromatosis arthropathy - a conundrum of the Celtic curse.

Authors:
P Dw Kiely

J R Coll Physicians Edinb 2018 Sep;48(3):233-238

St George's University Hospitals NHS Foundation Trust, Blackshaw Road, London SW17 0QT, UK,

Genetic haemochromatosis is an autosomal recessive disorder, mostly due to HFE gene mutation, leading to loss of hepcidin and unregulated iron loading. The consequences include hepatic fibrosis, cardiomyopathy and skin pigmentation, and these sequelae along with fatigue may be prevented by 'de-ironing'. Joint pain is frequently reported at diagnosis and an arthropathy that is essentially accelerated osteoarthritis may develop, with onset at a younger than expected age, involvement of typical and atypical joints, such as metacarpophalangeal and ankle, exuberant osteophytes and rapid progression to cartilage loss and the need for arthroplasty. Read More

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http://dx.doi.org/10.4997/JRCPE.2018.307DOI Listing
September 2018
2 Reads

Ferroportin Disease Caused by a Heterozygous Variant p.Cys326Phe in the SLC40A1 Gene and the Efficacy of Therapeutic Phlebotomy in Children.

J Pediatr Hematol Oncol 2019 Jul;41(5):e325-e328

Department of Pediatrics.

Therapeutic phlebotomy is recommended for treating hereditary hemochromatosis. However, the procedure and its efficacy for children remain unclear. We describe a young female patient with ferroportin disease, which was confirmed from excess iron deposition within hepatocytes and by identifying a heterozygous variant p. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001301DOI Listing
July 2019
5 Reads

[Haemochromatosis and Arthropathies].

Authors:
Axel Braner

Dtsch Med Wochenschr 2018 Aug 7;143(16):1167-1173. Epub 2018 Aug 7.

Arthropathy is the most common and often the earliest clinical manifestation of hereditary hemochromatosis (HH). It is difficult to treat and there is a high risk for early endoprosthetic joint replacement. Research done during the last decade shows that it is a joint disease in its own right. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/a-0505-9244
Publisher Site
http://dx.doi.org/10.1055/a-0505-9244DOI Listing
August 2018
40 Reads

Broadening the spectrum of neonatal hemochromatosis.

J Matern Fetal Neonatal Med 2020 Mar 10;33(6):1024-1026. Epub 2018 Sep 10.

Gastroenterology, Hepatology and Nutrition Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.

Neonatal hemochromatosis (NH) has been defined as neonatal liver disorder accompanied by extrahepatic siderosis, and gestational alloimmune liver disease (GALD) is the main cause of NH. We report an atypical case of NH that may have gone underdiagnosed. A male infant was born at term after an uneventful antenatal period. Read More

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http://dx.doi.org/10.1080/14767058.2018.1506442DOI Listing
March 2020
13 Reads

Cardiac MRI T2* in Liver Transplant Candidates: Application and Performance of a Novel Imaging Technique to Identify Patients at Risk for Poor Posttransplant Cardiac Outcomes.

Transplant Direct 2018 Jul 8;4(7):e363. Epub 2018 Jun 8.

Division of Gastroenterology and Hepatology, University of California at San Francisco, San Francisco, CA.

Background: In end-stage liver disease, alterations in iron metabolism can lead to iron overload and development of iron overload cardiomyopathy. In liver transplant candidates, evaluation for cardiac iron overload and dysfunction can help to identify candidates at increased risk for peritransplant morbidity and mortality, though recommendations for pretransplant evaluation of cardiac iron overload are not standardized. Cardiac Magnetic Resonance Imaging T2* (CMRI-T2*) is a validated method to quantify cardiac iron deposition, with normal T2* value of 20 ms or greater. Read More

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http://dx.doi.org/10.1097/TXD.0000000000000803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6056279PMC
July 2018
30 Reads

Hemochromatosis: pathophysiology, evaluation, and management of hepatic iron overload with a focus on MRI.

Expert Rev Gastroenterol Hepatol 2018 Aug 19;12(8):767-778. Epub 2018 Jul 19.

d Department of Digestive Diseases and Hepatology , Mount Sinai Beth Israel , New York , NY , USA.

Introduction: Hereditary hemochromatosis (HH) is an autosomal recessive disorder that occurs in approximately 1 in 200-250 individuals. Mutations in the HFE gene lead to excess iron absorption. Excess iron in the form of non-transferrin-bound iron (NTBI) causes injury and is readily uptaken by cardiomyocytes, pancreatic islet cells, and hepatocytes. Read More

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http://dx.doi.org/10.1080/17474124.2018.1496016DOI Listing
August 2018
12 Reads

Clinical pearls in gastroenterology.

Dis Mon 2018 Aug 5;64(8):361-369. Epub 2018 Jun 5.

Division of General Internal Medicine, Mayo Clinic, Rochester, MN, United States. Electronic address:

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http://dx.doi.org/10.1016/j.disamonth.2018.05.003DOI Listing
August 2018
4 Reads

Hepcidin levels correlate to liver iron content, but not steatohepatitis, in non-alcoholic fatty liver disease.

BMC Gastroenterol 2018 Jun 5;18(1):78. Epub 2018 Jun 5.

Unit of Liver Diseases, Department of Upper GI, C1-77 Huddinge, Karolinska University Hospital, Karolinska Institutet, 141 86, Stockholm, Sweden.

Background: One-third of patients with non-alcoholic fatty liver disease (NAFLD) develop dysmetabolic iron overload syndrome (DIOS), the pathogenesis of which is unknown. Altered production of the iron-regulatory peptide hepcidin has been reported in NAFLD, but it is unclear if this is related to iron accumulation, lipid status or steatohepatitis.

Methods: Eighty-four patients with liver disease, 54 of which had iron overload, underwent liver biopsy (n = 66) and/or magnetic resonance imaging (n = 35) for liver iron content determination. Read More

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https://bmcgastroenterol.biomedcentral.com/articles/10.1186/
Publisher Site
http://dx.doi.org/10.1186/s12876-018-0804-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5989417PMC
June 2018
48 Reads

Primary Hepatic Lymphoma Mimicking a Hepatocellular Carcinoma in a Cirrhotic Patient: Case Report and Systematic Review of the Literature.

Case Rep Surg 2018 10;2018:9183717. Epub 2018 Apr 10.

Service de Chirurgie, Institut Jules Bordet, Université Libre de Bruxelles (ULB), Bruxelles, Belgium.

Introduction: Primary hepatic lymphomas (PHLs) are rare liver tumors, frequently misdiagnosed preoperatively. As these tumors could be successfully treated with chemotherapy, their early recognition is essential, potentially, to avoid useless surgery. We report on the case of a cirrhotic patient with hemochromatosis who presented a PHL, initially diagnosed as a hepatocellular carcinoma (HCC), and we analyze recent data from the literature on this subject. Read More

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http://dx.doi.org/10.1155/2018/9183717DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5914115PMC
April 2018
15 Reads