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Hemochromatosis

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https://www.readbyqxmd.com/read/28815056/hemojuvelin-regulates-the-innate-immune-response-to-peritoneal-bacterial-infection-in-mice
#1
Qian Wu, Yuanyuan Shen, Yunlong Tao, Jiayu Wei, Hao Wang, Peng An, Zhuzhen Zhang, Hong Gao, Tianhua Zhou, Fudi Wang, Junxia Min
Hereditary hemochromatosis and iron imbalance are associated with susceptibility to bacterial infection; however, the underlying mechanisms are poorly understood. Here, we performed in vivo bacterial infection screening using several mouse models of hemochromatosis, including Hfe (Hfe(-/-) ), hemojuvelin (Hjv(-/-) ), and macrophage-specific ferroportin-1 (Fpn1(fl/fl) ;LysM-Cre(+) ) knockout mice. We found that Hjv(-/-) mice, but not Hfe(-/-) or Fpn1(fl/fl) ;LysM-Cre(+) mice, are highly susceptible to peritoneal infection by both Gram-negative and Gram-positive bacteria...
2017: Cell Discovery
https://www.readbyqxmd.com/read/28813711/subjects-at-risk-for-genetic-late-onset-neurological-diseases-objective-knowledge
#2
Ângela Leite, Fernanda Leite, Maria Alzira P Dinis
BACKGROUND/AIMS: This study addresses the objective knowledge about the disease of subjects at risk for 3 genetic late-onset neurological diseases (LOND): familial amyloid polyneuropathy (FAP) TTR V30M, Huntington disease (HD), and Machado-Joseph disease (MJD). METHODS: Subjects at risk for FAP, HD, and MJD submitted to genetic counseling to know their status (carrier or non-carrier) and subjects at risk for hereditary hemochromatosis (HH), the control group, completed a sociodemographic questionnaire and answered the open-ended question: "What do you know about this disease?...
August 17, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28809726/clinical-and-laboratory-associations-with-persistent-hyperferritinemia-in-373-black-hemochromatosis-and-iron-overload-screening-study-participants
#3
James C Barton, J Clayborn Barton, Paul C Adams
BACKGROUND: 373 black participants had elevated screening and post-screening serum ferritin (SF) (> 300 μg/L men; > 200 μg/L women). MATERIAL AND METHODS: We retrospectively studied SF and post-screening age; sex; body mass index; transferrin saturation (TS); ALT; AST; GGT; elevated C-reactive protein; ß-thalassemia; neutrophils; lymphocytes; monocytes; platelets; metacarpophalangeal joint hypertrophy; hepatomegaly; splenomegaly; diabetes; HFE H63D positivity; iron/alcohol intakes; and blood/erythrocyte transfusion units...
August 8, 2017: Annals of Hepatology
https://www.readbyqxmd.com/read/28803850/association-of-exposure-to-manganese-and-iron-with-striatal-and-thalamic-gaba-and-other-neurometabolites-neuroimaging-results-from-the-weldox-ii-study
#4
Swaantje Casjens, Urike Dydak, Shalmali Dharmadhikari, Anne Lotz, Martin Lehnert, Clara Quetscher, Christoph Stewig, Benjamin Glaubitz, Tobias Schmidt-Wilcke, David Edmondson, Chien-Lin Yeh, Tobias Weiss, Christoph van Thriel, Lennard Herrmann, Siegfried Muhlack, Dirk Woitalla, Michael Aschner, Thomas Brüning, Beate Pesch
OBJECTIVE: Magnetic resonance spectroscopy (MRS) is a non-invasive method to quantify neurometabolite concentrations in the brain. Within the framework of the WELDOX II study, we investigated the association of exposure to manganese (Mn) and iron (Fe) with γ-aminobutyric acid (GABA) and other neurometabolites in the striatum and thalamus of 154 men. MATERIAL AND METHODS: GABA-edited and short echo-time MRS at 3T was used to assess brain levels of GABA, glutamate, total creatine (tCr) and other neurometabolites...
August 10, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28796976/-hfeprotein-impact-on-iron-metabolism
#5
Barbara Kaczorowska-Hać, Jan Jacek Kaczor
Hereditary hemochromatosis type 1 is an autosomal recessive disorder caused by HFE gene mutations, which is an iron homeostasis metabolism controlling co-factor. Adults with male predomination present with clinical symptoms derived by iron overload in organs. The phenotype expression is individual with an influence of individual and environmental factors. Despite the fact that HFE variants are widespread, its impact still remains unknown. The article reviews the literature considering the role of HFE gene mutations regarding its impact in children...
2017: Developmental Period Medicine
https://www.readbyqxmd.com/read/28771247/clinical-penetrance-in-hereditary-hemochromatosis-estimates-of-the-cumulative-incidence-of-severe-liver-disease-among-hfe-c282y-homozygotes
#6
REVIEW
Scott D Grosse, Lyle C Gurrin, Nadine A Bertalli, Katrina J Allen
Iron overload (hemochromatosis) can cause serious, symptomatic disease that is preventable if detected early and managed appropriately. The leading cause of hemochromatosis in populations of predominantly European ancestry is homozygosity of the C282Y variant in the HFE gene. Screening of adults for iron overload or associated genotypes is controversial, largely because of a belief that severe phenotypes are uncommon, although cascade testing of first-degree relatives of patients is widely endorsed. We contend that severe liver disease (cirrhosis or hepatocellular cancer) is not at all uncommon among older males with hereditary hemochromatosis...
August 3, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28746593/ferritin-light-chain-gene-mutations-in-two-brazilian-families-with-hereditary-hyperferritinemia-cataract-syndrome
#7
Roberta Cardoso Petroni, Susana Elaine Alves da Rosa, Flavia Pereira de Carvalho, Rúbia Anita Ferraz Santana, Joyce Esteves Hyppolito, Claudia Mac Donald Bley Nascimento, Nelson Hamerschlak, Paulo Vidal Campregher
Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5'UTR region of the ferritin light chain gene. These mutations cause the ferritin levels to increase even in the absence of iron overload. Patients also develop bilateral cataract early due to accumulation of ferritin in the lens, and many are misdiagnosed as having hemochromatosis and thus not properly treated. The first cases were described in 1995 and several mutations have already been identified...
July 24, 2017: Einstein
https://www.readbyqxmd.com/read/28727322/hfe-gene-polymorphism-defined-by-sequence-based-typing-of-the-brazilian-population-and-a-standardized-nomenclature-for-hfe-allele-sequences
#8
W N Campos, J D Massaro, A L C Martinelli, J A Halliwell, S G E Marsh, C T Mendes-Junior, E A Donadi
The HFE molecule controls iron uptake from gut, and defects in the molecule have been associated with iron overload, particularly in hereditary hemochromatosis. The HFE gene including both coding and boundary intronic regions were sequenced in 304 Brazilian individuals, encompassing healthy individuals and patients exhibiting hereditary or acquired iron overload. Six sites of variation were detected: i) H63D C > G in exon 2, ii) IVS2 (+4) T > C in intron 2, iii) a C > G transversion in intron 3, iv) C282Y G > A in exon 4, v) IVS4 (-44) T > C in intron 4, and vi) a new Guanine deletion (G > del) in intron 5, which were used for haplotype inference...
July 20, 2017: HLA
https://www.readbyqxmd.com/read/28720890/iron-overload-exacerbates-age-associated-cardiac-hypertrophy-in-a-mouse-model-of-hemochromatosis
#9
Abitha Sukumaran, JuOae Chang, Murui Han, Shrutika Mintri, Ban-An Khaw, Jonghan Kim
Cardiac damage associated with iron overload is the most common cause of morbidity and mortality in patients with hereditary hemochromatosis, but the precise mechanisms leading to disease progression are largely unexplored. Here we investigated the effects of iron overload and age on cardiac hypertrophy using 1-, 5- and 12-month old Hfe-deficient mice, an animal model of hemochromatosis in humans. Cardiac iron levels increased progressively with age, which was exacerbated in Hfe-deficient mice. The heart/body weight ratios were greater in Hfe-deficient mice at 5- and 12-month old, compared with their age-matched wild-type controls...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28700532/musculoskeletal-involvement-in-hereditary-hemochromatosis
#10
Raul Castellanos-Moreira, Sebastian C Rodríguez-García, Helena Florez, Jose Inciarte-Mundo, Raimon Sanmarti
No abstract text is available yet for this article.
August 2017: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/28694969/hypogonadotropic-hypogonadism-in-men-with-hereditary-hemochromatosis
#11
Rabih El Osta, Nicolas Grandpre, Nicolas Monnin, Jacques Hubert, Isabelle Koscinski
Hereditary hemochromatosis is a genetic disease that progresses silently. This disease is often diagnosed late when complications appear. Hypogonadotropic hypogonadism (HH) is one of the classical complications of hemochromatosis. Its frequency is declining probably because of earlier diagnosis and better informed physicians. Certain symptoms linked to HH can have an impact on a patient's sexuality, such as decreased libido, erectile dysfunction, and impairment of ejaculation, as well as on his reproductive capacities...
2017: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/28694024/iron-metabolism-state-of-the-art
#12
R Daher, Z Karim
Iron homeostasis relies on the amount of its absorption by the intestine and its release from storage sites, the macrophages. Iron homeostasis is also dependent on the amount of iron used for the erythropoiesis. Hepcidin, which is synthesized predominantly by the liver, is the main regulator of iron metabolism. Hepcidin reduces serum iron by inhibiting the iron exporter, ferroportin expressed both tissues, the intestine and the macrophages. In addition, in the enterocytes, hepcidin inhibits the iron influx by acting on the apical transporter, DMT1...
July 7, 2017: Transfusion Clinique et Biologique: Journal de la Société Française de Transfusion Sanguine
https://www.readbyqxmd.com/read/28684448/hemochromatosis-iron-loading-anemia-and-smad
#13
Victor R Gordeuk
No abstract text is available yet for this article.
July 6, 2017: Blood
https://www.readbyqxmd.com/read/28678636/iron-loading-in-hfe-p-c282y-homozygotes-found-by-population-screening-relationships-to-hla-type-and-t-lymphocyte-subsets
#14
Ketil Thorstensen, Mona A Kvitland, Wenche Ø Irgens, Arne Åsberg, Berit Borch-Iohnsen, Torolf Moen, Kristian Hveem
Iron loading in p.C282Y homozygous HFE hemochromatosis subjects is highly variable, and it is unclear what factors cause this variability. Finding such factors could aid in predicting which patients are at highest risk and require closest follow-up. The degree of iron loading has previously been associated with certain HLA-types and with abnormally low CD8 + cell counts in peripheral blood. In 183 Norwegian, p.C282Y homozygotes (104 men, 79 women) originally found through population screening we determined HLA type and measured total T-lymphocytes, CD4 + and CD8 + cells, and compared this with data on iron loading...
July 5, 2017: Scandinavian Journal of Clinical and Laboratory Investigation
https://www.readbyqxmd.com/read/28655414/heart-and-heart-liver-transplantation-in-patients-with-hemochromatosis
#15
Monique R Robinson, Sadeer G Al-Kindi, Guilherme H Oliveira
BACKGROUND: Hemochromatosis predisposes to dilated or restrictive cardiomyopathy which can progress to end-stage heart failure, requiring the use of advanced heart therapies including heart (HT) and heart liver (HLT) transplantation. Little is known about the characteristics and outcomes of these patients. METHODS AND RESULTS: We queried the United Network for Organ Sharing (UNOS) registry for all patients listed for HT or HLT for a diagnosis of 'hemochromatosis' between 1987 and 2014...
June 21, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28648620/iron-overload-induces-hypogonadism-in-male-mice-via-extrahypothalamic-mechanisms
#16
Chiara Macchi, Liliana Steffani, Roberto Oleari, Antonella Lettieri, Luca Valenti, Paola Dongiovanni, Antonio Romero-Ruiz, Manuel Tena-Sempere, Anna Cariboni, Paolo Magni, Massimiliano Ruscica
INTRODUCTION: Iron overload leads to multiple organ damage including endocrine organ dysfunctions. Hypogonadism is the most common non-diabetic endocrinopathy in primary and secondary iron overload syndromes. AIM: To explore the molecular determinants of iron overload-induced hypogonadism with specific focus on hypothalamic derangements. A dysmetabolic male murine model fed iron-enriched diet (IED) and cell-based models of gonadotropin-releasing hormone (GnRH) neurons were used...
October 15, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28631037/inclusion-bodies-of-aggregated-hemosiderins-in-liver-macrophages
#17
Hisao Hayashi, Yasuaki Tatsumi, Shinya Wakusawa, Ryota Shigemasa, Ryoji Koide, Ken-Ichi Tsuchida, Natsuko Morotomi, Tetsuji Yamashita, Kotaro Kumagai, Yukiya Ono, Kazuhiko Hayashi, Masatoshi Ishigami, Hidemi Goto, Ayako Kato, Koichi Kato
Hemosiderin formation is a structural indication of iron overload. We investigated further adaptations of the liver to excess iron. Five patients with livers showing iron-rich inclusions larger than 2 µm were selected from our database. The clinical features of patients and structures of the inclusions were compared with those of 2 controls with mild iron overload. All patients had severe iron overload with more than 5000 ng/mL of serum ferritin. Etiologies were variable, from hemochromatosis to iatrogenic iron overload...
June 19, 2017: Medical Molecular Morphology
https://www.readbyqxmd.com/read/28624580/proton-pump-inhibitors-decrease-phlebotomy-need-in-hfe-hemochromatosis-double-blind-randomized-placebo-controlled-trial
#18
Annick Vanclooster, Cees van Deursen, Reggy Jaspers, David Cassiman, Ger Koek
Phlebotomy constitutes the established treatment for HFE-related hemochromatosis. Retrospective studies have suggested proton pump inhibitors (PPIs) reduce the need for phlebotomy in this population. We conducted a randomized controlled trial to prove this. Thirty p.C282Y homozygous patients were randomly allocated to PPI (pantoprazole 40 mg/day) or placebo for 12 months. Phlebotomies were performed when serum ferritin was > 100 μg/L. Phlebotomy need turned out to be significantly lower in patients taking PPI (P = ...
June 15, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28610845/hemochromatosis-and-blood-donation
#19
REVIEW
Turid Aarhus Braseth, Tor Hervig, Anne Synnove Rosvik
The voluntary, unpaid, altruistic blood donor is a cornerstone of current transfusion medicine. The complexity of medical and ethical issues related to blood donation and hemochromatosis has led to a large number of studies related to the safety of the hemochromatosis donor and the quality of the blood components produced from these donations. The issue of accepting persons with HC as blood donors is diverting, both in Europe and worldwide and without joint guidelines. A questionnaire-based study was performed and mailed to all 25 blood bank leaders in Norway...
June 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/28609562/cryptogenic-cirrhosis-misunderstood-cause-of-yellow-urticaria
#20
Mariana Boechat Souza, Teresa Russo, Lilian Mathias Delorenze, Gabriela Castro, Giuseppe Argenziano, Vincenzo Piccolo
We read with great interest the paper by Combalia et al recently appeared on Journal of European Academy of Dermatology(1) . The authors reported two cases of yellow urticaria related to liver cirrhosis, one due to hemochromatosis, and the other one to alcohol(1) . With a total of ten cases reported in literature by now, we considered relevant to report another case we recently came across. This article is protected by copyright. All rights reserved.
June 13, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
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