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[PMID]:29173496
[Au] Autor:Troadec MB; Loréal O; Brissot P
[Ad] Endereço:Institut de génétique et de développement de Rennes, CNRS UMR 6290, Université de Rennes 1, Rennes, France; SFR Biosit UMS CNRS 3480/US INSERM 018, Rennes, France. Electronic address: marie-berengere.troadec@univ-rennes1.fr.
[Ti] Título:The interaction of iron and the genome: For better and for worse.
[So] Source:Mutat Res;774:25-32, 2017 Oct.
[Is] ISSN:1873-135X
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Iron, as an essential nutrient, and the DNA, as the carrier of genetic information which is physically compacted into chromosomes, are both needed for normal life and well-being. Therefore, it is not surprising that close interactions exist between iron and the genome. On the one hand, iron, especially when present in excess, may alter genome stability through oxidative stress, and may favor cell cycle abnormalities and the development of malignant diseases. The genome also receives a feedback signal from the systemic iron status, leading to promotion of expression of genes that regulate iron metabolism. Conversely, on the other hand, DNA mutations may cause genetic iron-related diseases such as hemochromatosis, archetype of iron-overload diseases, or refractory iron deficiency anemia (IRIDA).
[Mh] Termos MeSH primário: Instabilidade Genômica
Distúrbios do Metabolismo do Ferro/etiologia
Sobrecarga de Ferro/etiologia
Ferro/metabolismo
Mutação
[Mh] Termos MeSH secundário: Seres Humanos
Distúrbios do Metabolismo do Ferro/metabolismo
Sobrecarga de Ferro/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
E1UOL152H7 (Iron)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171205
[Lr] Data última revisão:
171205
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE


  2 / 659 MEDLINE  
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[PMID]:28684612
[Au] Autor:Gill D; Del Greco M F; Walker AP; Srai SKS; Laffan MA; Minelli C
[Ad] Endereço:From the Imperial College Healthcare NHS Trust, London, United Kingdom (D.G., M.A.L.); Department of Clinical Pharmacology and Therapeutics (D.G.), Department of Haematology (M.A.L.), and Department of Population Health and Occupational Disease (C.M.), Imperial College London, United Kingdom; Instit
[Ti] Título:The Effect of Iron Status on Risk of Coronary Artery Disease: A Mendelian Randomization Study-Brief Report.
[So] Source:Arterioscler Thromb Vasc Biol;37(9):1788-1792, 2017 Sep.
[Is] ISSN:1524-4636
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Iron status is a modifiable trait that has been implicated in cardiovascular disease. This study uses the Mendelian randomization technique to investigate whether there is any causal effect of iron status on risk of coronary artery disease (CAD). APPROACH AND RESULTS: A 2-sample Mendelian randomization approach is used to estimate the effect of iron status on CAD risk. Three loci (rs1800562 and rs1799945 in the gene and rs855791 in ) that are each associated with serum iron, transferrin saturation, ferritin, and transferrin in a pattern suggestive of an association with systemic iron status are used as instruments. SNP (single-nucleotide polymorphism)-iron status association estimates are based on a genome-wide association study meta-analysis of 48 972 individuals. SNP-CAD estimates are derived by combining the results of a genome-wide association study meta-analysis of 60 801 CAD cases and 123 504 controls with those of a meta-analysis of 63 746 CAD cases and 130 681 controls obtained from Metabochip and genome-wide association studies. Combined Mendelian randomization estimates are obtained for each marker by pooling results across the 3 instruments. We find evidence of a protective effect of higher iron status on CAD risk (iron odds ratio, 0.94 per SD unit increase; 95% confidence interval, 0.88-1.00; =0.039; transferrin saturation odds ratio, 0.95 per SD unit increase; 95% confidence interval, 0.91-0.99; =0.027; log-transformed ferritin odds ratio, 0.85 per SD unit increase; 95% confidence interval, 0.73-0.98; =0.024; and transferrin odds ratio, 1.08 per SD unit increase; 95% confidence interval, 1.01-1.16; =0.034). CONCLUSIONS: This Mendelian randomization study supports the hypothesis that higher iron status reduces CAD risk. These findings may highlight a therapeutic target.
[Mh] Termos MeSH primário: Doença da Artéria Coronariana/genética
Proteína da Hemocromatose/genética
Distúrbios do Metabolismo do Ferro/genética
Ferro/sangue
Proteínas de Membrana/genética
Polimorfismo de Nucleotídeo Único
Serina Endopeptidases/genética
[Mh] Termos MeSH secundário: Estudos de Casos e Controles
Doença da Artéria Coronariana/diagnóstico
Doença da Artéria Coronariana/prevenção & controle
Bases de Dados Genéticas
Ferritinas/sangue
Estudos de Associação Genética
Predisposição Genética para Doença
Seres Humanos
Distúrbios do Metabolismo do Ferro/sangue
Distúrbios do Metabolismo do Ferro/diagnóstico
Análise da Randomização Mendeliana
Razão de Chances
Fenótipo
Fatores de Proteção
Medição de Risco
Fatores de Risco
Transferrina/análise
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (HFE protein, human); 0 (Hemochromatosis Protein); 0 (Membrane Proteins); 0 (Transferrin); 9007-73-2 (Ferritins); E1UOL152H7 (Iron); EC 3.4.21.- (Serine Endopeptidases); EC 3.4.21.- (TMPRSS6 protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170906
[Lr] Data última revisão:
170906
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170708
[St] Status:MEDLINE
[do] DOI:10.1161/ATVBAHA.117.309757


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[PMID]:28681497
[Au] Autor:Wallace DF; McDonald CJ; Ostini L; Iser D; Tuckfield A; Subramaniam VN
[Ad] Endereço:Institute of Health and Biomedical Innovation and School of Biomedical Sciences. Queensland University of Technology (QUT), Brisbane, Queensland, Australia.
[Ti] Título:The dynamics of hepcidin-ferroportin internalization and consequences of a novel ferroportin disease mutation.
[So] Source:Am J Hematol;92(10):1052-1061, 2017 Oct.
[Is] ISSN:1096-8652
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The hepcidin-ferroportin axis underlies the pathophysiology of many iron-associated disorders and is a key target for the development of therapeutics for treating iron-associated disorders. The aims of this study were to investigate the dynamics of hepcidin-mediated ferroportin internalization and the consequences of a novel disease-causing mutation on ferroportin function. Specific reagents for ferroportin are limited; we developed and characterized antibodies against the largest extracellular loop of ferroportin and developed a novel cell-based assay for studying hepcidin-ferroportin function. We show that hepcidin-mediated ferroportin internalization is a rapid process and could be induced using low concentrations of hepcidin. Targeted next-generation sequencing utilizing an iron metabolism gene panel developed in our group identified a novel ferroportin p.D84E variant in a patient with iron overload. Wild-type and mutant ferroportin constructs were generated, transfected into HEK293 cells and analysed using an all-in-one flow-cytometry-based assay to study the effects on hepcidin-mediated internalization and iron transport. Consistent with the classical phenotype of ferroportin disease, the p.D84E mutation results in an inability to transport iron and hepcidin insensitivity. These results validate a recently proposed 3D-structural model of ferroportin and highlight the significance of this variant in the structure and function of ferroportin. Our novel ferroportin antibody and assay will be valuable tools for investigating the regulation of hepcidin/ferroportin function and the development of novel approaches for the therapeutic modulation of iron homeostasis.
[Mh] Termos MeSH primário: Proteínas de Transporte de Cátions/metabolismo
Hepcidinas/metabolismo
Distúrbios do Metabolismo do Ferro/genética
Ferro/metabolismo
Mutação
[Mh] Termos MeSH secundário: Bioensaio
Proteínas de Transporte de Cátions/sangue
Proteínas de Transporte de Cátions/genética
Feminino
Citometria de Fluxo
Células HEK293
Hepcidinas/farmacologia
Seres Humanos
Distúrbios do Metabolismo do Ferro/sangue
Distúrbios do Metabolismo do Ferro/metabolismo
Cinética
Transporte Proteico
Receptores de Superfície Celular/metabolismo
Transfecção
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cation Transport Proteins); 0 (HAMP protein, human); 0 (Hepcidins); 0 (Receptors, Cell Surface); 0 (metal transporting protein 1); E1UOL152H7 (Iron)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171102
[Lr] Data última revisão:
171102
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170707
[St] Status:MEDLINE
[do] DOI:10.1002/ajh.24844


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Bydlowski, Sergio Paulo
Spada, Celso
Texto completo
[PMID]:28514781
[Au] Autor:Reichert CO; da Cunha J; Levy D; Maselli LMF; Bydlowski SP; Spada C
[Ad] Endereço:Clinical Analysis Department, Health Sciences Center, Federal University of Santa Catarina (UFSC), Florianópolis, Brazil.
[Ti] Título:Hepcidin: Homeostasis and Diseases Related to Iron Metabolism.
[So] Source:Acta Haematol;137(4):220-236, 2017.
[Is] ISSN:1421-9662
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Iron is an essential metal for cell survival that is regulated by the peptide hormone hepcidin. However, its influence on certain diseases is directly related to iron metabolism or secondary to underlying diseases. Genetic alterations influence the serum hepcidin concentration, which can lead to an iron overload in tissues, as observed in haemochromatosis, in which serum hepcidin or defective hepcidin synthesis is observed. Another genetic imbalance of iron is iron-refractory anaemia, in which serum concentrations of hepcidin are increased, precluding the flow and efflux of extra- and intracellular iron. During the pathogenesis of certain diseases, the resulting oxidative stress, as well as the increase in inflammatory cytokines, influences the transcription of the HAMP gene to generate a secondary anaemia due to the increase in the serum concentration of hepcidin. To date, there is no available drug to inhibit or enhance hepcidin transcription, mostly due to the cytotoxicity described in the in vitro models. The proposed therapeutic targets are still in the early stages of clinical trials. Some candidates are promising, such as heparin derivatives and minihepcidins. This review describes the main pathways of systemic and genetic regulation of hepcidin, as well as its influence on the disorders related to iron metabolism.
[Mh] Termos MeSH primário: Hepcidinas/genética
Hepcidinas/metabolismo
Distúrbios do Metabolismo do Ferro/genética
Distúrbios do Metabolismo do Ferro/metabolismo
Ferro/metabolismo
[Mh] Termos MeSH secundário: Anemia Ferropriva/genética
Anemia Ferropriva/metabolismo
Proteínas de Transporte de Cátions/metabolismo
Eritropoese
Regulação da Expressão Gênica
Hemocromatose/genética
Hemocromatose/metabolismo
Hepcidinas/sangue
Homeostase
Seres Humanos
Inflamação/genética
Inflamação/metabolismo
Estresse Oxidativo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Cation Transport Proteins); 0 (HAMP protein, human); 0 (Hepcidins); 0 (metal transporting protein 1); E1UOL152H7 (Iron)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170724
[Lr] Data última revisão:
170724
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170518
[St] Status:MEDLINE
[do] DOI:10.1159/000471838


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[PMID]:28381747
[Au] Autor:Nagata S; Ikegaya N; Ogino S; Uchida S; Itaya M; Momita A; Shinozaki S; Ohura M; Kuriki K; Kono S; Miyajima H; Hishida A
[Ad] Endereço:Department of Medicine, Yaizu City Hospital, Japan.
[Ti] Título:The Resection of Thyroid Cancer Was Associated with the Resolution of Hyporesponsiveness to an Erythropoiesis-stimulating Agent in a Hemodialysis Patient with Aceruloplasminemia.
[So] Source:Intern Med;56(7):805-810, 2017.
[Is] ISSN:1349-7235
[Cp] País de publicação:Japan
[La] Idioma:eng
[Ab] Resumo:We herein report the case of a hemodialysis patient whose response to an erythropoiesis-stimulating agent (ESA) improved following the resection of thyroid cancer. Her hemoglobin level remained below 7 g/dL, despite the use of ESA. During the search for the causes of her hyporesponsiveness to ESA, papillary thyroid cancer and aceruloplasminemia were found. The existence of other potential causes, such as iron deficiency, infectious disease, severe hyperparathyroidism and malnutrition were ruled out. Following the resection of the thyroid cancer tumor, her hemoglobin level increased to 10.2 g/dL over a period of 4 months. This is the first report to demonstrate the resolution of hyporesponsiveness to ESA following the resection of a malignant tumor.
[Mh] Termos MeSH primário: Carcinoma/complicações
Carcinoma/cirurgia
Ceruloplasmina/deficiência
Hematínicos/uso terapêutico
Distúrbios do Metabolismo do Ferro/complicações
Doenças Neurodegenerativas/complicações
Diálise Renal
Neoplasias da Glândula Tireoide/complicações
Neoplasias da Glândula Tireoide/cirurgia
[Mh] Termos MeSH secundário: Anemia/etiologia
Carcinoma/diagnóstico
Carcinoma Papilar
Feminino
Hematínicos/administração & dosagem
Hemoglobinas/análise
Seres Humanos
Meia-Idade
Neoplasias da Glândula Tireoide/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hematinics); 0 (Hemoglobins); EC 1.16.3.1 (Ceruloplasmin)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170407
[St] Status:MEDLINE
[do] DOI:10.2169/internalmedicine.56.7455


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[PMID]:28076908
[Au] Autor:Calder GL; Lee MH; Sachithanandan N; Bell S; Zeimer H; MacIsaac RJ
[Ad] Endereço:Department of Endocrinology and Diabetes, St Vincent's Hospital Melbourne, Melbourne, Victoria, Australia.
[Ti] Título:Aceruloplasminaemia: a disorder of diabetes and neurodegeneration.
[So] Source:Intern Med J;47(1):115-118, 2017 Jan.
[Is] ISSN:1445-5994
[Cp] País de publicação:Australia
[La] Idioma:eng
[Ab] Resumo:Aceruloplasminaemia is an autosomal recessive disorder of iron metabolism which is characterised by diabetes, neurodegeneration and anaemia. It should be considered in the differential diagnosis of adult onset, antibody-negative diabetes associated with persistent mild anaemia and hyperferritinaemia and/or progressive neuropsychiatric impairments.
[Mh] Termos MeSH primário: Ceruloplasmina/análise
Ceruloplasmina/deficiência
Diabetes Mellitus Tipo 2/complicações
Distúrbios do Metabolismo do Ferro/diagnóstico
Distúrbios do Metabolismo do Ferro/tratamento farmacológico
Ferro/sangue
Doenças Neurodegenerativas/diagnóstico
Doenças Neurodegenerativas/tratamento farmacológico
[Mh] Termos MeSH secundário: Adulto
Benzoatos/administração & dosagem
Encéfalo/diagnóstico por imagem
Cobre/sangue
Diagnóstico Diferencial
Ferritinas/sangue
Seres Humanos
Insulina/administração & dosagem
Quelantes de Ferro/administração & dosagem
Imagem por Ressonância Magnética
Masculino
Triazóis/administração & dosagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Benzoates); 0 (Insulin); 0 (Iron Chelating Agents); 0 (Triazoles); 789U1901C5 (Copper); 9007-73-2 (Ferritins); E1UOL152H7 (Iron); EC 1.16.3.1 (Ceruloplasmin); V8G4MOF2V9 (deferasirox)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170824
[Lr] Data última revisão:
170824
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170112
[St] Status:MEDLINE
[do] DOI:10.1111/imj.13309


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[PMID]:28052375
[Au] Autor:Ravasi G; Pelucchi S; Mariani R; Casati M; Greni F; Arosio C; Pelloni I; Majore S; Santambrogio P; Levi S; Piperno A
[Ad] Endereço:School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.
[Ti] Título:Unexplained isolated hyperferritinemia without iron overload.
[So] Source:Am J Hematol;92(4):338-343, 2017 Apr.
[Is] ISSN:1096-8652
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Although hyperferritinemia may be reflective of elevated total body iron stores, there are conditions in which ferritin levels are disproportionately elevated relative to iron status. Autosomal dominant forms of hyperferritinemia due to mutations in the L-ferritin IRE or in A helix of L-ferritin gene have been described, however cases of isolated hyperferritinemia still remain unsolved. We describe 12 Italian subjects with unexplained isolated hyperferritinemia (UIH). Four probands have affected siblings, but no affected parents or offspring. Sequencing analyses did not identify casual mutations in ferritin gene or IRE regions. These patients had normal levels of intracellular ferritin protein and mRNA in peripheral blood cells excluding pathological ferritin production at transcriptional and post-transcriptional level. In contrast with individuals with benign hyperferritinemia caused by mutations affecting the ferritin A helix, low rather than high glycosylation of serum ferritin was observed in our UIH subjects compared with controls. These findings suggest that subjects with UIH have a previously undescribed form of hyperferritinemia possibly attributable to increased cellular ferritin secretion and/or decreased serum ferritin clearance. The cause remains to be defined and we can only speculate the existence of mutations in gene/s not directly implicated in iron metabolism that could affect ferritin turnover including ferritin secretion.
[Mh] Termos MeSH primário: Ferritinas/sangue
Distúrbios do Metabolismo do Ferro/etiologia
[Mh] Termos MeSH secundário: Adulto
Estudos de Casos e Controles
Feminino
Glicosilação
Seres Humanos
Sobrecarga de Ferro
Itália
Masculino
Meia-Idade
Linhagem
RNA Mensageiro/sangue
Irmãos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (RNA, Messenger); 9007-73-2 (Ferritins)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170717
[Lr] Data última revisão:
170717
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170105
[St] Status:MEDLINE
[do] DOI:10.1002/ajh.24641


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[PMID]:28052108
[Au] Autor:Gahlot S; Nasreen N; Johnson JA; Sahn SA; Mohammed KA
[Ad] Endereço:North Florida/South Georgia Veterans Health System, Malcom Randall Veterans Affairs Medical Center, Gainesville, Florida, United States of America.
[Ti] Título:Heme Oxygenase-1 Deficiency Diminishes Methicillin-Resistant Staphylococcus aureus Clearance Due to Reduced TLR9 Expression in Pleural Mesothelial Cells.
[So] Source:PLoS One;12(1):e0169245, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Methicillin Resistant Staphylococcus aureus (MRSA) cause pneumonia and empyema thoraces. TLR9 activation provides protection against bacterial infections and Heme oxygenase-1 (HO-1) is known to enhance host innate immunity against bacterial infections. However, it is still unclear whether HO-1 regulates TLR-9 expression in the pleura and modulates the host innate defenses during MRSA empyema. In order to determine if HO-1 regulates host innate immune functions via modulating TLR expression, in MRSA empyema, HO-1+/+ and HO-1-/- mouse pleural mesothelial cells (PMCs) were infected with MRSA (1:10, MOI) in the presence or absence of Cobalt Protoporphyrin (CoPP) and Zinc Protoporphyrin (ZnPP) or CORM-2 (a Carbon monoxide donor) and the expression of mTLR9 and mBD14 was assessed by RT-PCR. In vivo, HO-1+/+ and HO-1-/- mice were inoculated with MRSA (5x106 CFU) intra-pleurally and host bacterial load was measured by CFU, and TLR9 expression in the pleura was determined by histochemical-immunostaining. We noticed MRSA inducing differential expression of TLR9 in HO-1+/+ and HO-1 -/- PMCs. In MRSA infected HO-1+/+ PMCs, TLR1, TLR4, and TLR9 expression was several fold higher than MRSA infected HO-1-/- PMCs. Particularly TLR9 expression was very low in MRSA infected HO-1-/- PMCs both in vivo and in vitro. Bacterial clearance was significantly higher in HO-1+/+ PMCs than compared to HO-1-/- PMCs in vitro, and blocking TLR9 activation diminished MRSA clearance significantly. In addition, HO-1-/- mice were unable to clear the MRSA bacterial load in vivo. MRSA induced TLR9 and mBD14 expression was significantly high in HO-1+/+ PMCs and it was dependent on HO-1 activity. Our findings suggest that HO-1 by modulating TLR9 expression in PMCs promotes pleural innate immunity in MRSA empyema.
[Mh] Termos MeSH primário: Anemia Hemolítica/metabolismo
Células Epiteliais/enzimologia
Células Epiteliais/metabolismo
Transtornos do Crescimento/metabolismo
Heme Oxigenase-1/deficiência
Distúrbios do Metabolismo do Ferro/metabolismo
Staphylococcus aureus Resistente à Meticilina/patogenicidade
Pleura/enzimologia
Pleura/microbiologia
Receptor Toll-Like 9/metabolismo
[Mh] Termos MeSH secundário: Anemia Hemolítica/genética
Animais
Feminino
Transtornos do Crescimento/genética
Heme Oxigenase-1/genética
Heme Oxigenase-1/metabolismo
Imunidade Inata/genética
Imunidade Inata/fisiologia
Distúrbios do Metabolismo do Ferro/genética
Masculino
Camundongos
Camundongos Knockout
Pleura/metabolismo
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Transdução de Sinais/genética
Transdução de Sinais/fisiologia
Receptor Toll-Like 9/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Toll-Like Receptor 9); EC 1.14.14.18 (Heme Oxygenase-1)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170828
[Lr] Data última revisão:
170828
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170105
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0169245


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[PMID]:27817091
[Au] Autor:Poli L; Alberici A; Buzzi P; Marchina E; Lanari A; Arosio C; Ciccone A; Semeraro F; Gasparotti R; Padovani A; Borroni B
[Ad] Endereço:Neurology Unit, Department of Medical and Experimental Sciences, University of Brescia, Piazza Spedali Civili 1, 25100, Brescia, Italy.
[Ti] Título:Is aceruloplasminemia treatable? Combining iron chelation and fresh-frozen plasma treatment.
[So] Source:Neurol Sci;38(2):357-360, 2017 Feb.
[Is] ISSN:1590-3478
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:We report the case of a patient with hereditary ceruloplasmin deficiency due to a novel gene mutation in ceruloplasmin gene (CP), treated with fresh frozen plasma (FFP) and iron chelation therapy. A 59-year-old man with a past history of diabetes was admitted to our department due to progressive gait difficulties and cognitive impairment. Neurological examination revealed a moderate cognitive decline, with mild extrapyramidal symptoms, ataxia, and myoclonus. Brain T2-weighted MR imaging showed bilateral basal ganglia hypointensity with diffuse iron deposition. Increased serum ferritin, low serum copper concentration, undetectable ceruloplasmin, and normal urinary copper excretion were found. The genetic analysis of the CP (OMIM #604290) reported compound heterozygosity for two mutations, namely c.848G > A and c.2689_2690delCT. Treatment with FFP (500 mL i.v./once a week) and administration of iron chelator (Deferoxamine 1000 mg i.v/die for 5 days, followed by Deferiprone 500 mg/die per os) were undertaken. At the 6-month follow-up, clinical improvement of gait instability, trunk ataxia, and myoclonus was observed; brain MRI scan showed no further progression of basal ganglia T2 hypointensity. This case report suggests that the early initiation of combined treatment with FFP and iron chelation may be useful to reduce the accumulation of iron in the central nervous system and to improve the neurological symptoms.
[Mh] Termos MeSH primário: Ceruloplasmina/deficiência
Terapia por Quelação/métodos
Ferro
Troca Plasmática/métodos
[Mh] Termos MeSH secundário: Ceruloplasmina/uso terapêutico
Terapia Combinada
Seres Humanos
Distúrbios do Metabolismo do Ferro/tratamento farmacológico
Masculino
Meia-Idade
Doenças Neurodegenerativas/tratamento farmacológico
Plasma
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
E1UOL152H7 (Iron); EC 1.16.3.1 (Ceruloplasmin)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161107
[St] Status:MEDLINE
[do] DOI:10.1007/s10072-016-2756-x


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[PMID]:27756061
[Au] Autor:Madu AJ; Ughasoro MD
[Ad] Endereço:Department of Haematology and Immunology, College of Medicine, University of Nigeria, Enugu, Nigeria.
[Ti] Título:Anaemia of Chronic Disease: An In-Depth Review.
[So] Source:Med Princ Pract;26(1):1-9, 2017.
[Is] ISSN:1423-0151
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Anaemia is the most common haematological disorder affecting humanity and is usually observed in chronic disease states such as non-specific anaemia, which may cause diagnostic difficulties. In chronically ill patients with anaemia, this has a negative impact on quality of life as well as survival. This paper aims at reviewing the pathogenesis of this form of anaemia with a view to suggesting future targets for therapeutic intervention. The ability to diagnose this disorder depends on the ability of the physician to correlate the possible clinical pathways of the underlying disease with the patients' ferrokinetic state. It is important to rule out iron deficiency and other causes of anaemia as misdiagnosis will in most cases lead to refractoriness to standard therapy. The cytokines and acute-phase proteins play important roles in the pathogenesis of anaemia of chronic disease. Alterations in the metabolism of iron via the molecule hepcidin and ferritin are largely responsible for the consequent anaemia. Concomitant iron deficiency might be present and could affect the diagnosis and therapeutic protocol. Treatment options involve the use of erythropoiesis-stimulating agents, blood transfusion, and iron supplementation, in addition to treating the underlying disease.
[Mh] Termos MeSH primário: Anemia
[Mh] Termos MeSH secundário: Fatores Etários
Anemia/complicações
Anemia/diagnóstico
Anemia/fisiopatologia
Anemia/terapia
Doença Crônica
Diagnóstico Diferencial
Eritropoese
Seres Humanos
Interleucina-6
Distúrbios do Metabolismo do Ferro/complicações
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Interleukin-6)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171102
[Lr] Data última revisão:
171102
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161019
[St] Status:MEDLINE
[do] DOI:10.1159/000452104



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