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Hemochromatosis

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https://www.readbyqxmd.com/read/29467999/the-correlation-of-cardiac-and-hepatic-hemosiderosis-as-measured-by-t2-mri-technique-with-ferritin-levels-and-hemochromatosis-gene-mutations-in-iranian-patients-with-beta-thalassemia-major
#1
Mohammad Soleiman Soltanpour, Kambiz Davari
Objectives: Organ-specific hemosiderosis and iron overload complications are more serious and more frequent in some patients with beta thalassemia major (BTM) compared with others. We investigated whether coinheritance of HFE H63D or C282Y gene mutations in patients with BTM contributes to the phenotypic variation of iron overload complications and assessed the correlation of cardiac and hepatic hemosiderosis with plasma ferritin levels. Methods: We studied 60 patients with BTM with a mean age of 17...
January 2018: Oman Medical Journal
https://www.readbyqxmd.com/read/29467298/microhemorrhage-associated-tissue-iron-enhances-the-risk-for-aspergillus-fumigatus-invasion-in-a-mouse-model-of-airway-transplantation
#2
Joe L Hsu, Olga V Manouvakhova, Karl V Clemons, Mohammed Inayathullah, Allen B Tu, Raymond A Sobel, Amy Tian, Hasan Nazik, Venkata R Pothineni, Shravani Pasupneti, Xinguo Jiang, Gundeep S Dhillon, Harmeet Bedi, Jayakumar Rajadas, Hubertus Haas, Laure Aurelian, David A Stevens, Mark R Nicolls
Invasive pulmonary disease due to the mold Aspergillus fumigatus can be life-threatening in lung transplant recipients, but the risk factors remain poorly understood. To study this process, we used a tracheal allograft mouse model that recapitulates large airway changes observed in patients undergoing lung transplantation. We report that microhemorrhage-related iron content may be a major determinant of A. fumigatus invasion and, consequently, its virulence. Invasive growth was increased during progressive alloimmune-mediated graft rejection associated with high concentrations of ferric iron in the graft...
February 21, 2018: Science Translational Medicine
https://www.readbyqxmd.com/read/29454332/do-pregnancies-reduce-iron-overload-in-hfe-hemochromatosis-women-results-from-an-observational-prospective-study
#3
Virginie Scotet, Philippe Saliou, Marianne Uguen, Carine L'Hostis, Marie-Christine Merour, Céline Triponey, Brigitte Chanu, Jean-Baptiste Nousbaum, Gerald Le Gac, Claude Ferec
BACKGROUND: HFE hemochromatosis is an inborn error of iron metabolism linked to a defect in the regulation of hepcidin synthesis. This autosomal recessive disease typically manifests later in women than men. Although it is commonly stated that pregnancy is, with menses, one of the factors that offsets iron accumulation in women, no epidemiological study has yet supported this hypothesis. The aim of our study was to evaluate the influence of pregnancy on expression of the predominant HFE p...
February 17, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29431403/mildly-elevated-liver-transaminase-levels-causes-and-evaluation
#4
Robert C Oh, Thomas R Hustead, Syed M Ali, Matthew W Pantsari
Mild, asymptomatic elevations (less than five times the upper limit of normal) of alanine transaminase and aspartate transaminase levels are common in primary care. It is estimated that approximately 10% of the U.S. population has elevated transaminase levels. An approach based on the prevalence of diseases that cause asymptomatic transaminase elevations can help clinicians efficiently identify common and serious liver disease. The most common causes of elevated transaminase levels are nonalcoholic fatty liver disease and alcoholic liver disease...
December 1, 2017: American Family Physician
https://www.readbyqxmd.com/read/29430224/multilocular-hepatic-abscess-formation-and-sepsis-due-to-yersinia-enterocolitica-in-a-patient-with-hereditary-hemochromatosis-and-type-2-diabetes-mellitus
#5
Matthias Sauter, Stephan R Vavricka, Pascal Locher, Benjamin Preiswerk, Dominik Weishaupt, Christoph A Meier, Benjamin Misselwitz
Infection with Yersinia enterocolitica (YE) typically presents with mild gastroenteritis without systemic infection. However, systemic YE infection has been described in states of iron overload. We present the case of a patient with sepsis with hepatic abscesses due to YE infection. Workup revealed a past diagnosis of diabetes mellitus and hemochromatosis which had been untreated for the previous 5 years due to patient refusal. This case highlights risk factors for systemic infection with YE. A high degree of suspicion for YE infection is warranted in patients with iron overload, diabetes mellitus, or immunosuppression...
September 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/29429170/-secondary-hemochromatosis-report-of-a-case
#6
L J Cao, F Tang, Z G Zhang, H J Wu
No abstract text is available yet for this article.
February 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/29423808/identification-of-genes-for-hereditary-hemochromatosis
#7
Glenn S Gerhard, Barbara V Paynton, Johanna K DiStefano
Hereditary hemochromatosis (HH) is one of the most common genetically transmitted conditions in individuals of Northern European ancestry. The disease is characterized by excessive intestinal absorption of dietary iron, resulting in pathologically high iron storage in tissues and organs. If left untreated, HH can damage joints and organs, and eventually lead to death. There are four main classes of HH, as well as five individual molecular subtypes, caused by mutations in five genes, and the approaches implemented in the discovery of each HH type have specific histories and unique aspects...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29420370/hepatoblastoma-in-a-child-with-early-onset-cirrhosis
#8
Julie Bennett, Melanie Kirby-Allen, Vicky Ng, John S Waye, Catherine T Chung, Furqan Shaikh
Hepatoblastoma is the most common hepatic malignancy of childhood with known genetic predispositions and perinatal risk factors, with rare case reports occurring in the setting of cirrhosis. This case describes a young patient with cirrhosis attributed to early-onset hereditary hemochromatosis who was diagnosed with hepatoblastoma with uncommon histologic findings, evidence of chemotherapy resistance who ultimately succumbed to her disease. It is important to consider diagnoses beyond hepatocellular carcinoma in this scenario and consider early biopsy...
February 7, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29404507/sex-specific-analysis-post-liver-transplantation-in-hemochromatosis-with-aplastic-anemia-and-hepatocellular-carcinoma
#9
Paul Adams, Christopher Howlett, Anargyros Xenocostas, Subrata Chakrabarti
A 42-year-old man with hemochromatosis and cirrhosis developed aplastic anemia. He underwent liver transplantation from a female donor and splenectomy, and his aplastic anemia spontaneously resolved. A bone marrow examination 6 months after the liver transplant showed 17.5% female cells. He did well for 13 years without the need for any blood product support but then developed bone pain and was found to have metastatic hepatocellular carcinoma in the vertebral bodies. Molecular analysis demonstrated that the tumor cells were from his original liver...
January 2018: Hepatology Communications
https://www.readbyqxmd.com/read/29404472/clinical-burden-of-liver-disease-from-hemochromatosis-at-an-academic-medical-center
#10
Sergio A Sánchez-Luna, Kyle E Brown
Hereditary hemochromatosis (HH) can cause cirrhosis and hepatocellular carcinoma (HCC), but the frequency of these complications is controversial. To address this question, we reviewed the experience with HH at an academic medical center that is the sole liver transplantation center in a state with a population that is >90% Caucasian. The records of all subjects with International Classification of Diseases, Ninth Revision, code 275, "disorders of iron metabolism" seen at the University of Iowa Hospitals and Clinics between January 1, 2004 and December 31, 2014 were reviewed, and HFE C282Y homozygotes and C282Y/H63D compound heterozygotes were identified...
July 2017: Hepatology Communications
https://www.readbyqxmd.com/read/29388418/the-transferrin-receptors-tfr1-and-tfr2-bind-transferrin-through-differing-mechanisms
#11
Mark D Kleven, Shall Jue, Caroline A Enns
Hereditary hemochromatosis (HH), a disease marked by chronic iron overload from insufficient expression of the hormone hepcidin, is one of the most common genetic diseases. One form of HH (Type III) results from mutations in the transferrin receptor-2 (TfR2). TfR2 is postulated to be a part of signaling system that is capable of modulating hepcidin expression. The molecular details of TfR2's role in this system remain unclear, however. TfR2 is predicted to bind the iron carrier transferrin (Tf) when the iron-saturation of Tf is high...
February 1, 2018: Biochemistry
https://www.readbyqxmd.com/read/29373985/reversal-of-end-stage-heart-failure-in-juvenile-hemochromatosis-with-iron-chelation-therapy-a-case-report
#12
Shamil D Cooray, Neel M Heerasing, Laura A Selkrig, V Nathan Subramaniam, P Shane Hamblin, Cameron J McDonald, Catriona A McLean, Elissa McNamara, Angeline S Leet, Stuart K Roberts
BACKGROUND: Juvenile hemochromatosis is the most severe form of iron overloading phenotype. Although rare, it should be suspected in patients who present with hypogonadotropic hypogonadism, diabetes mellitus, or cardiomyopathy without a clear cause. CASE PRESENTATION: A young Serbian male presenting with end-stage heart failure was referred for extracorporeal membrane oxygenation. An endomyocardial biopsy revealed cytoplasmic iron deposits in myocytes. His condition was stabilized with biventricular assist devices and he was listed for heart transplantation...
January 26, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29373036/timp3-deficiency-exacerbates-iron-overload-mediated-cardiomyopathy-and-liver-disease
#13
Pavel Zhabyeyev, Subhash K Das, Ratnadeep Basu, Mengcheng Shen, Vaibhav B Patel, Zamaneh Kassiri, Gavin Y Oudit
Chronic iron-overload results in heart and liver diseases and is a common cause of morbidity and mortality in patients with genetic hemochromatosis and secondary iron-overload. We investigated the role of tissue inhibitor of metalloproteinase-3 (TIMP3) in iron-overload mediated tissue injury by subjecting male mice lacking Timp3 ( Timp3 -/- ) and wildtype (WT) mice to 12 weeks of chronic iron-overload. While iron-overload in the WT group developed diastolic dysfunction, iron-overloaded Timp3 -/- mice showed worsened cardiac dysfunction coupled with systolic dysfunction...
January 26, 2018: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/29359379/disparate-clinical-findings-in-monochorionic-twins-with-neonatal-hemochromatosis
#14
Hiroko Midorikawa, Tatsuki Mizuochi, Jun-Ichiro Okada, Tadashi Hisano
No abstract text is available yet for this article.
November 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29332607/the-role-of-t2-weighted-gradient-echo-in-the-diagnosis-of-tumefactive-intrahepatic-extramedullary-hematopoiesis-in-myelodysplastic-syndrome-and-diffuse-hepatic-iron-overload-a-case-report-and-review-of-the-literature
#15
Abel A Belay, Andrew M Bellizzi, Alan H Stolpen
BACKGROUND: Extramedullary hematopoiesis is the proliferation of hematopoietic cells outside bone marrow secondary to marrow hematopoiesis failure. Extramedullary hematopoiesis rarely presents as a mass-forming hepatic lesion; in this case, imaging-based differentiation from primary and metastatic hepatic neoplasms is difficult, often leading to biopsy for definitive diagnosis. We report a case of tumefactive hepatic extramedullary hematopoiesis in the setting of myelodysplastic syndrome with concurrent hepatic iron overload, and the role of T2*-weighted gradient-echo magnetic resonance imaging in differentiating extramedullary hematopoiesis from primary and metastatic hepatic lesions...
January 15, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29301508/quality-of-life-scores-differs-between-genotypic-groups-of-patients-with-suspected-hereditary-hemochromatosis
#16
Paula Fernanda Silva Fonseca, Rodolfo Delfini Cançado, Flavio Augusto Naoum, Carla Luana Dinardo, Guilherme Henrique Hencklain Fonseca, Sandra Fatima Menosi Gualandro, José Eduardo Krieger, Alexandre Costa Pereira, Pierre Brissot, Paulo Caleb Junior Lima Santos
BACKGROUND: Hereditary hemochromatosis (HH) encompasses a group of autosomal recessive disorders mainly characterized by enhanced intestinal absorption of iron and its accumulation in parenchymal organs. HH diagnosis is based on iron biochemical and magnetic resonance imaging (MRI) assessment, and genetic testing. Questionnaires, such as SF-36 (short form health survey), have been increasingly used to assess the impact of diseases on the patient's quality of life (QL). In addition, different genotypes are identified as results of genetic tests in patients with suspected primary iron overload...
January 5, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29287003/magnetic-resonance-imaging-findings-in-neonatal-hemochromatosis
#17
Khaled Alenezi, Binita M Kamath, Iram Siddiqui, Christopher Tomlinson, Govind B Chavhan
BACKGROUND: There are limited data on utility of MRI in the assessment of suspected neonatal hemochromatosis (NH). OBJECTIVES: To present our experience with utilization of multi-echo sequences MRI technique in the evaluation of NH and to compare MRI findings in infants with and without NH. METHODS: MRI performed for suspected NH were retrospectively reviewed to note the presence and severity of iron deposition (ID) in liver, spleen, pancreas and kidneys on multi-echo sequences...
December 28, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29245238/autopsy-relevance-determining-hemochromatosis-case-report
#18
Sigitas Chmieliauskas, Dalius Banionis, Sigitas Laima, Gerda Andriuskeviciute, Sandra Mazeikiene, Jurgita Stasiuniene, Algimantas Jasulaitis, Sonata Jarmalaite
RATIONALE: Hemochromatosis is a disorder, associated with an abnormal accumulation of iron leading to toxic organ damage. Clinical symptoms develop during a long period of time, thus, determining accidental or late diagnosis, usually when complications are evident. PATIENT CONCERNS: A 53-year-old man was brought to the emergency unit with symptoms of hypovolemic shock without any apparent cause, which ultimately led to multiple organ failure, severe metabolic acidosis...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29237594/structure-function-analysis-of-ferroportin-defines-the-binding-site-and-an-alternative-mechanism-of-action-of-hepcidin
#19
Sharraya Aschemeyer, Bo Qiao, Deborah Stefanova, Erika V Valore, Albert C Sek, T Alex Ruwe, Kyle R Vieth, Grace Jung, Carla Casu, Stefano Rivella, Mika Jormakka, Bryan Mackenzie, Tomas Ganz, Elizabeta Nemeth
Non-classical Ferroportin Disease is a form of hereditary hemochromatosis caused by mutations in the iron transporter ferroportin (Fpn), resulting in parenchymal iron overload. Fpn is regulated by the hormone hepcidin, which induces Fpn endocytosis and cellular iron retention. We characterized 11 clinically-relevant and 5 nonclinical Fpn mutations using stably transfected, inducible, isogenic cell lines. All clinical mutants were functionally resistant to hepcidin as a consequence of either impaired hepcidin binding or impaired hepcidin-dependent ubiquitination despite intact hepcidin binding...
December 13, 2017: Blood
https://www.readbyqxmd.com/read/29228359/comment-on-hereditary-hemochromatosis-arthropathy-and-doppler-ultrasound-findings-of-synovitis
#20
Konstantinos Parperis
No abstract text is available yet for this article.
December 7, 2017: Rheumatology
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