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Hemochromatosis

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https://www.readbyqxmd.com/read/29689243/whole-exome-sequencing-identifies-unique-mutations-and-copy-number-losses-in-calcifying-fibrous-tumor-of-the-pleura-report-of-three-cases-and-review-of-the-literature
#1
Mitra Mehrad, William A LaFramboise, Maureen A Lyons, Humberto E Trejo Bittar, Samuel A Yousem
Calcifying fibrous tumor of the pleura (CFTP) is a rare mesenchymal tumor of unknown pathogenesis. The diagnosis often requires exclusion of other common entities. Our aim was to determine if genomic changes were associated with CFTP that could contribute to mechanisms underlying tumorigenesis. Three cases of CFTP with their corresponding uninvolved control lung tissue were identified. Two patients were male, and one was female (age range: 21-32years). Tumors were multifocal in two cases and solitary in one...
April 21, 2018: Human Pathology
https://www.readbyqxmd.com/read/29656314/-174-g-c-il-6-polymorphism-and-primary-iron-overload-in-male-patients
#2
Walter F Tetzlaff, Tomás Meroño, Eliana E Botta, Maximiliano E Martín, Patricia B Sorroche, Laura E Boero, Marcelo Castro, Gustavo D Frechtel, Jorge Rey, Jorge Daruich, Gloria E Cerrone, Fernando Brites
Primary iron overload (IO) is commonly associated with mutations in the hereditary hemochromatosis gene (HFE). Nonetheless, other genetic variants may influence the development of IO beyond HFE mutations. There is a single nucleotide polymorphism (SNP) at - 174 G>C of the interleukin (IL)-6 gene which might be associated with primary IO. Our aim was to study the association between the SNP - 174 G>C gene promoter of IL-6 and primary IO in middle-aged male patients. We studied 37 men with primary IO diagnosed by liver histology...
April 14, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29642405/transcriptome-analysis-of-acute-phase-liver-graft-injury-in-liver-transplantation
#3
Nikki P Lee, Haiyang Wu, Kevin T P Ng, Ruibang Luo, Tak-Wah Lam, Chung-Mau Lo, Kwan Man
BACKGROUND: Liver transplantation remains the treatment of choice for a selected group of hepatocellular carcinoma (HCC) patients. However, the long-term benefit is greatly hampered by post-transplant HCC recurrence. Our previous studies have identified liver graft injury as an acute phase event leading to post-transplant tumor recurrence. METHODS: To re-examine this acute phase event at the molecular level and in an unbiased way, RNA sequencing (RNA-Seq) was performed on liver graft biopsies obtained from the transplant recipients two hours after portal vein reperfusion with an aim to capture frequently altered pathways that account for post-transplant tumor recurrence...
April 6, 2018: Biomedicines
https://www.readbyqxmd.com/read/29623879/about-genetic-diagnosis-of-hereditary-hemochromatosis
#4
Henri Michel
No abstract text is available yet for this article.
April 1, 2018: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/29623226/acute-isolated-hyperbilirubinemia-as-a-presentation-of-alcoholic-liver-disease-a-case-report-and-literature-review
#5
Muhammad Rajib Hossain, Ramesh Kumar Pandey, Mohammad Faridul Islam, Praveen Datar, Vijay Gayam, Pradeep Puri, Thwin Malar
Isolated hyperbilirubinemia as a manifestation of alcoholic liver disease without significant liver abnormalities is seen very rarely. We report such a case where a patient with chronic alcoholism presented to the ER with acute jaundice with bilirubin of 24.8 mg/dl, predominantly conjugated in nature along with mild elevation of AST (76 IU/L). There were no other abnormalities of the liver function. The patient underwent extensive laboratory and imaging tests that excluded extrahepatic cholestasis, viral and autoimmune hepatitis, ischemic hepatitis, and so forth...
2018: Case Reports in Hepatology
https://www.readbyqxmd.com/read/29600572/adenine-alleviates-iron-overload-by-camp-pka-mediated-hepatic-hepcidin-in-mice
#6
Yingqi Zhang, Xudong Wang, Qian Wu, Hao Wang, Lu Zhao, Xinhui Wang, Mingdao Mu, Enjun Xie, Xuyan He, Dandan Shao, Yanna Shang, Yongrong Lai, Yelena Ginzburg, Junxia Min, Fudi Wang
Hemochromatosis is prevalent and often associated with high rates of morbidity and mortality worldwide. The safe alternative iron-reducing approaches are urgently needed in order to better control iron overload. Our unbiased vitamin screen for modulators of hepcidin, a master iron regulatory hormone, identifies adenine (vitamin B4) as a potent hepcidin agonist. Adenine significantly induced hepcidin mRNA level and promoter activity activation in human cell lines, possibly through BMP/SMAD pathway. Further studies in mice validated the effect of adenine on hepcidin upregulation...
March 30, 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29597199/diagnosis-of-hereditary-spherocytosis-and-secondary-hemochromatosis-in-a-patient-with-jaundice
#7
Yidan Gao, Binbin Zhang, Yiran Song, Ge Li, Yanting Bao, Yanming Jiang, Ling Gao, Gongying Chen, Jie Wang
No abstract text is available yet for this article.
March 29, 2018: Acta Haematologica
https://www.readbyqxmd.com/read/29594459/iron-storage-disease-hemochromatosis-and-hepcidin-response-to-iron-load-in-two-species-of-pteropodid-fruit-bats-relative-to-the-common-vampire-bat
#8
Iga M Stasiak, Dale A Smith, Tomas Ganz, Graham J Crawshaw, Jutta D Hammermueller, Dorothee Bienzle, Brandon N Lillie
Hepcidin is the key regulator of iron homeostasis in the body. Iron storage disease (hemochromatosis) is a frequent cause of liver disease and mortality in captive Egyptian fruit bats (Rousettus aegyptiacus), but reasons underlying this condition are unknown. Hereditary hemochromatosis in humans is due to deficiency of hepcidin or resistance to the action of hepcidin. Here, we investigated the role of hepcidin in iron metabolism in one species of pteropodid bat that is prone to iron storage disease [Egyptian fruit bat (with and without hemochromatosis)], one species of pteropodid bat where iron storage disease is rare [straw-colored fruit bat (Eidolon helvum)], and one species of bat with a natural diet very high in iron, in which iron storage disease is not reported [common vampire bat (Desmodus rotundus)]...
March 29, 2018: Journal of Comparative Physiology. B, Biochemical, Systemic, and Environmental Physiology
https://www.readbyqxmd.com/read/29589198/therapeutic-recommendations-in-hfe-hemochromatosis-for-p-cys282tyr-c282y-c282y-homozygous-genotype
#9
EDITORIAL
Paul Adams, Albert Altes, Pierre Brissot, Barbara Butzeck, Ioav Cabantchik, Rodolfo Cançado, Sonia Distante, Patricia Evans, Robert Evans, Tomas Ganz, Domenico Girelli, Rolf Hultcrantz, Gordon McLaren, Ben Marris, Nils Milman, Elizabeta Nemeth, Peter Nielsen, Brigitte Pineau, Alberto Piperno, Graça Porto, Dianne Prince, John Ryan, Mayka Sanchez, Paulo Santos, Dorine Swinkels, Emerência Teixeira, Ketil Toska, Annick Vanclooster, Desley White
Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an objective, simple, brief, and practical set of recommendations about therapeutic aspects of HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype, based on the published scientific studies and guidelines, in a form that is reasonably comprehensible to patients and people without medical training. This final version was approved at the Hemochromatosis International meeting on 12th May 2017 in Los Angeles...
March 27, 2018: Hepatology International
https://www.readbyqxmd.com/read/29589101/regression-of-human-cirrhosis-an-update-18-years-after-the-pioneering-article-by-wanless-et-al
#10
REVIEW
Prodromos Hytiroglou, Neil D Theise
Cirrhosis has been traditionally viewed as an irreversible, end-stage condition. Eighteen years ago, Wanless, Nakashima, and Sherman published a study that was based on the concept that hepatic architecture is under constant remodeling in the course of chronic liver diseases, even during their most advanced stages; depending on the balance between injury and repair, the histologic changes might be progressing or regressing. These authors described in detail the morphologic features of regressing cirrhosis, identified a set of histologic features of regression that they called the "hepatic repair complex," and provided convincing morphologic evidence that incomplete septal cirrhosis represents regressed cirrhosis...
March 27, 2018: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/29563373/fatal-cardiac-hemochromatosis-in-a-patient-with-hereditary-spherocytosis
#11
Takeo Fujino, Shujiro Inoue, Shunsuke Katsuki, Taiki Higo, Tomomi Ide, Yoshinao Oda, Hiroyuki Tsutsui
A 31-year-old man was admitted to our hospital with atrial tachycardia and cardiogenic shock. He had been diagnosed with hereditary spherocytosis (HS) during childhood, but he never received any red blood cell transfusions. Right ventricular endomyocardial biopsy revealed multiple myocardial hemosiderin deposits, and he was diagnosed with cardiac hemochromatosis. In addition to the iron deposition in the heart, the loss of myocyte and severe interstitial fibrosis were present. His cardiac function did not improve even after the cardioversion for atrial tachycardia, and he suffered from recurrent heart failure...
March 20, 2018: International Heart Journal
https://www.readbyqxmd.com/read/29558712/advantages-of-time-resolved-contrast-enhanced-4d-mr-angiography-in-splenic-arterial-steal-syndrome
#12
Verena C Obmann, Majid Chalian, Bahar Mansoori, Edmund Sanchez, Vikas Gulani
Splenic artery steal syndrome (SASS) is a severe complication affecting up to 10% of orthotopic liver transplant (OLT) patients. In this case report, we present a 35-year-old male with OLT secondary to liver failure due to hemochromatosis, who developed SASS. We describe potential application of different imaging techniques for diagnosis of SASS with focus on the value of time-resolved contrast enhanced 4D magnetic resonance angiography (MRA).
March 7, 2018: Clinical Imaging
https://www.readbyqxmd.com/read/29552540/primary-hemochromatosis-presenting-as-type-2-diabetes-mellitus-a-case-report-with-review-of-literature
#13
Kalyani Raju, Srinivas Murthy Venkataramappa
Hemochromatosis is an autosomal recessive genetic disorder resulting in increased intestinal absorption of iron and eventually to iron overload. The onset of symptoms is usually seen around 40 years of age. Iron overload causes tissue damage in liver, pancreas, skin, joints, heart, and gonads. Approximately 50% of patients diagnosed with hemochromatosis will have either type 1 or type 2 diabetes mellitus (DM) because of selective beta-cell damage due to iron overload and leads to impaired insulin synthesis, release, and insulin resistance...
January 2018: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/29543671/iron-overload-cardiomyopathy-from-diagnosis-to-management
#14
Carles Díez-López, Josep Comín-Colet, José González-Costello
PURPOSE OF REVIEW: Iron overload cardiomyopathy (IOC) is an important predictor of prognosis in a significant number of patients with hereditary hemochromatosis and hematologic diseases. Its prevalence is increasing because of improved treatment strategies, which significantly improve life expectancy. We will review diagnosis, treatment, and recent findings in the field. RECENT FINDINGS: The development of preclinical translational disease models during the last years have helped our understanding of specific disease pathophysiological pathways that might eventually change the outcomes of these patients...
March 14, 2018: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/29528818/liver-iron-quantification-with-mr-imaging-a-primer-for-radiologists
#15
Roxanne Labranche, Guillaume Gilbert, Milena Cerny, Kim-Nhien Vu, Denis Soulières, Damien Olivié, Jean-Sébastien Billiard, Takeshi Yokoo, An Tang
Iron overload is a systemic disorder and is either primary (genetic) or secondary (exogenous iron administration). Primary iron overload is most commonly associated with hereditary hemochromatosis and secondary iron overload with ineffective erythropoiesis (predominantly caused by β-thalassemia major and sickle cell disease) that requires long-term transfusion therapy, leading to transfusional hemosiderosis. Iron overload may lead to liver cirrhosis and hepatocellular carcinoma, in addition to cardiac and endocrine complications...
March 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29523504/hepcidin-agonists-as-therapeutic-tools
#16
Carla Casu, Elizabeta Nemeth, Stefano Rivella
Hepcidin agonists are a new class of compounds that regulate blood iron levels and limit iron absorption, and could improve the treatment of hemochromatosis, β-thalassemia, polycythemia vera, and other disorders where disrupted iron homeostasis causes disease or contributes to it. Hepcidin agonists also have the potential to prevent severe complications of siderophilic infections in patients with iron overload or chronic liver disease. This review highlights the preclinical studies that support the development of hepcidin agonists for the treatment of these disorders...
March 9, 2018: Blood
https://www.readbyqxmd.com/read/29518107/gene-gene-interactions-among-coding-genes-of-iron-homeostasis-proteins-and-apoe-alleles-in-cognitive-impairment-diseases
#17
Veronica Tisato, Giovanni Zuliani, Marco Vigliano, Giovanna Longo, Eugenia Franchini, Paola Secchiero, Giorgio Zauli, Elvezia Maria Paraboschi, Ajay Vikram Singh, Maria Luisa Serino, Beatrice Ortolani, Amedeo Zurlo, Cristina Bosi, Antonio Greco, Davide Seripa, Rosanna Asselta, Donato Gemmati
Cognitive impairments of different aetiology share alterations in iron and lipid homeostasis with mutual relationships. Since iron and cholesterol accumulation impact on neurodegenerative disease, the associated gene variants are appealing candidate targets for risk and disease progression assessment. In this light, we explored the role of common single nucleotide polymorphisms (SNPs) in the main iron homeostasis genes and in the main lipoprotein transporter gene (APOE) in a cohort of 765 patients with dementia of different origin: Alzheimer's disease (AD) n = 276; vascular dementia (VaD), n = 255; mild cognitive impairment (MCI), n = 234; and in normal controls (n = 1086)...
2018: PloS One
https://www.readbyqxmd.com/read/29511150/gastroscopy-findings-in-a-patient-with-signet-ring-cell-carcinoma-and-late%C3%A2-onset-hereditary-hemochromatosis
#18
Marta Walczak-Gałęzewska, Monika Szulińska, Danuta Pupek-Musialik, Paweł Bogdański
No abstract text is available yet for this article.
February 28, 2018: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/29508053/-arthur-vick-prize-2017-of-the-german-society-of-orthopaedic-rheumatology
#19
REVIEW
L Bause, A Niemeier, V Krenn
The German Society of Orthopaedic Rheumatology (DGORh) honored Prof. Dr. med. Veit Krenn (MVZ-ZHZMD-Trier) with the Arthur Vick Prize 2017. With this award, scientific results with high impact on the diagnosis, therapy and pathogenetic understanding of rheumatic diseases are honored. In cooperation with pathologists and colleagues from various clinical disciplines Prof. Dr. med. Veit Krenn developed several histopathologic scoring systems which contribute to the diagnosis and pathogenetic understanding of degenerative and rheumatic diseases...
March 5, 2018: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/29499991/the-effects-of-gestational-alloimmune-liver-disease-on-fetal-and-infant-morbidity-and-mortality
#20
Sarah A Taylor, Susan Kelly, Estella M Alonso, Peter F Whitington
OBJECTIVES: To evaluate pregnancy outcomes in pedigrees of neonatal hemochromatosis to determine the spectrum of gestational alloimmune liver disease (GALD) in a large cohort. STUDY DESIGN: We prospectively collected data from women with a prior offspring with proven neonatal hemochromatosis between 1997 and 2015 and analyzed pregnancy outcomes. RESULTS: The pedigrees from 150 women included 350 gestations with outcomes potentially related to GALD...
February 27, 2018: Journal of Pediatrics
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