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hereditary 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/28796976/-hfeprotein-impact-on-iron-metabolism
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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/28586532/periodontal-status-and-serum-biomarker-levels-in-hfe-haemochromatosis-patients-a-case-series-study
#10
Vincent Meuric, Fabrice Lainé, Emile Boyer, Sandrine Le Gall-David, Emmanuel Oger, Denis Bourgeois, Philippe Bouchard, Edouard Bardou-Jacquet, Valérie Turmel, Martine Bonnaure-Mallet, Yves Deugnier
AIM: To investigate the association between periodontal status and serum biomarkers in patients with HFE haemochromatosis. MATERIAL AND METHODS: This clinical case series included 84 HFE-C282Y homozygous patients. Periodontal evaluation was performed using clinical attachment level, probing depth, gingival bleeding index, visible plaque index and gingival index. Serum markers of iron metabolism were collected from medical records. The relationship between serum biomarkers of iron burden and the severity of periodontitis was investigated...
June 6, 2017: Journal of Clinical Periodontology
https://www.readbyqxmd.com/read/28558946/a-mouse-model-of-cardiomyopathy-induced-by-mutations-in-the-hemochromatosis-hfe-gene
#11
Haidar Djemai, Rémi Thomasson, Yvan Trzaskus, Nathalie Mougenot, Amira Meziani, Jean-François Toussaint, Philippe Noirez, Damien Vitiello
BACKGROUND: The heart is 1 of the organs most affected by hereditary hemochromatosis (HH). The clinical impact of cardiomyopathy in patients with HH requires a particular diagnosis and less invasive treatments. We developed a model of cardiomyopathy in knockout (KO) mice for the high-Fe (HFE) gene and assessed left ventricular (LV) function and structure from 7-20 months. METHODS: Male wild-type (WT) heterozygous and KO SV129 mice for the HFE gene were used in this study...
July 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28555756/design-and-chemical-syntheses-of-potent-matriptase-2-inhibitors-based-on-trypsin-inhibitor-sfti-1-isolated-from-sunflower-seeds
#12
Agata Gitlin-Domagalska, Dawid Dębowski, Anna Łęgowska, Marit Stirnberg, Joanna Okońska, Michael Gütschow, Krzysztof Rolka
Matriptase-2 plays a pivotal role in keeping iron concentrations within a narrow physiological range in humans. The opportunity to reduce matriptase-2 proteolytic activity may open a novel possibility to treat iron overload diseases, such as hereditary hemochromatosis and thalassemia. Here, we present 23 new analogues of trypsin inhibitor SFTI-1 designed to inhibit human matriptase-2. Influence of the modifications Gly1Lys, Ile10Arg and Phe12His, as well as the introduction of Narg in P1 or P1 and P4 positions were examined...
May 27, 2017: Biopolymers
https://www.readbyqxmd.com/read/28541873/an-unusual-presentation-of-seborrheic-keratoses-in-a-man-with-hereditary-hemochromatosis
#13
Tiffany Y Loh, Philip R Cohen
Hereditary hemochromatosis is an autosomal recessive disorder that disturbs iron metabolism and results in iron deposition throughout the body. Iron accumulation in various organs may cause a wide range of systemic symptoms and cutaneous manifestations of the disease are particularly striking. Classically, hereditary hemochromatosis has been termed "bronze diabetes." Although diffuse hyperpigmentation is a well-described feature of this disease, other cutaneous symptoms may also occur, and a variety of anomalies may be observed...
April 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28499927/disruption-of-the-hepcidin-ferroportin-regulatory-system-causes-pulmonary-iron-overload-and-restrictive-lung-disease
#14
Joana Neves, Dominik Leitz, Simone Kraut, Christina Brandenberger, Raman Agrawal, Norbert Weissmann, Christian Mühlfeld, Marcus A Mall, Sandro Altamura, Martina U Muckenthaler
Emerging evidence suggests that pulmonary iron accumulation is implicated in a spectrum of chronic lung diseases. However, the mechanism(s) involved in pulmonary iron deposition and its role in the in vivo pathogenesis of lung diseases remains unknown. Here we show that a point mutation in the murine ferroportin gene, which causes hereditary hemochromatosis type 4 (Slc40a1(C326S)), increases iron levels in alveolar macrophages, epithelial cells lining the conducting airways and lung parenchyma, and in vascular smooth muscle cells...
June 2017: EBioMedicine
https://www.readbyqxmd.com/read/28482413/-hereditary-spherocytosis-complicated-by-hereditary-hemochromatosis-a-case-report
#15
H B Ning, E E Guo, J P Liu, E H Xiao, J Shang
No abstract text is available yet for this article.
March 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/28479501/porphyria-cutanea-tarda-as-the-initial-manifestation-of-subclinical-hereditary-hemochromatosis
#16
Oleksandr Trofymenko, Paul Sagerman, Drew J B Kurtzman
No abstract text is available yet for this article.
May 4, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28474781/the-hemochromatosis-protein-hfe-20-years-later-an-emerging-role-in-antigen-presentation-and-in-the-immune-system
#17
REVIEW
Alexandre Reuben, Jacqueline W Chung, Réjean Lapointe, Manuela M Santos
INTRODUCTION: Since its discovery, the hemochromatosis protein HFE has been primarily defined by its role in iron metabolism and homeostasis, and its involvement in the genetic disease termed hereditary hemochromatosis (HH). While HH patients are typically afflicted by dysregulated iron levels, many are also affected by several immune defects and increased incidence of autoimmune diseases that have thereby implicated HFE in the immune response. Growing evidence has supported an immunological role for HFE with recent studies describing HFE specifically as it relates to MHC I antigen presentation...
April 19, 2017: Immunity, Inflammation and Disease
https://www.readbyqxmd.com/read/28443246/genetic-and-dietary-iron-overload-differentially-affect-the-course-of-salmonella-typhimurium-infection
#18
Manfred Nairz, Andrea Schroll, David Haschka, Stefanie Dichtl, Piotr Tymoszuk, Egon Demetz, Patrizia Moser, Hubertus Haas, Ferric C Fang, Igor Theurl, Günter Weiss
Genetic and dietary forms of iron overload have distinctive clinical and pathophysiological features. HFE-associated hereditary hemochromatosis is characterized by overwhelming intestinal iron absorption, parenchymal iron deposition, and macrophage iron depletion. In contrast, excessive dietary iron intake results in iron deposition in macrophages. However, the functional consequences of genetic and dietary iron overload for the control of microbes are incompletely understood. Using Hfe(+/+) and Hfe(-/-) mice in combination with oral iron overload in a model of Salmonella enterica serovar Typhimurium infection, we found animals of either genotype to induce hepcidin antimicrobial peptide expression and hypoferremia following systemic infection in an Hfe-independent manner...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28406842/hfe-gene-mutations-and-iron-status-in-100-healthy-polish-children
#19
Barbara Kaczorowska-Hac, Marcin Luszczyk, Jedrzej Antosiewicz, Wieslaw Ziolkowski, Elzbieta Adamkiewicz-Drozynska, Malgorzata Mysliwiec, Ewa Milosz, Jan J Kaczor
Iron participates in oxygen transport, energetic, metabolic, and immunologic processes. There are 2 main causes of iron overload: hereditary hemochromatosis which is a primary cause, is a metabolic disorder caused by mutations of genes that control iron metabolism and secondary hemochromatosis caused by multitransfusions, chronic hemolysis, and intake of iron rich food. The most common type of hereditary hemochromatosis is caused by HFE gene mutation. In this study, we analyzed iron metabolism in 100 healthy Polish children in relation to their HFE gene status...
July 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28379030/the-role-of-iron-in-the-pathogenesis-of-atherosclerosis
#20
REVIEW
P Kraml
Ferritin and increased iron stores first appeared on the list of cardiovascular risk factors more than 30 years ago and their causal role in the pathogenesis of atherosclerosis has been heavily discussed since the early 1990s. It seems that besides traditional factors such as hyperlipoproteinemia, hypertension, diabetes mellitus, obesity, physical inactivity, smoking and family history, high iron stores represent an additional parameter that could modify individual cardiovascular risk. The role of iron in the pathogenesis of atherosclerosis was originally primarily associated with its ability to catalyze the formation of highly reactive free oxygen radicals and the oxidation of atherogenic lipoproteins...
April 5, 2017: Physiological Research
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