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hereditary hemochromatosis

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https://www.readbyqxmd.com/read/29765443/management-of-cardiac-hemochromatosis
#1
Wilbert S Aronow
Iron-overload syndromes may be hereditary or acquired. Patients may be asymptomatic early in the disease. Once heart failure develops, there is rapid deterioration. Cardiac hemochromatosis is characterized by a dilated cardiomyopathy with dilated ventricles, reduced ejection fraction, and reduced fractional shortening. Deposition of iron may occur in the entire cardiac conduction system, especially the atrioventricular node. Cardiac hemochromatosis should be considered in any patient with unexplained heart failure...
April 2018: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/29754767/preconception-carrier-screening-by-genome-sequencing-results-from-the-clinical-laboratory
#2
Sumit Punj, Yassmine Akkari, Jennifer Huang, Fei Yang, Allison Creason, Christine Pak, Amiee Potter, Michael O Dorschner, Deborah A Nickerson, Peggy D Robertson, Gail P Jarvik, Laura M Amendola, Jennifer Schleit, Dana Kostiner Simpson, Alan F Rope, Jacob Reiss, Tia Kauffman, Marian J Gilmore, Patricia Himes, Benjamin Wilfond, Katrina A B Goddard, C Sue Richards
Advances in sequencing technologies permit the analysis of a larger selection of genes for preconception carrier screening. The study was designed as a sequential carrier screen using genome sequencing to analyze 728 gene-disorder pairs for carrier and medically actionable conditions in 131 women and their partners (n = 71) who were planning a pregnancy. We report here on the clinical laboratory results from this expanded carrier screening program. Variants were filtered and classified using the latest American College of Medical Genetics and Genomics (ACMG) guideline; only pathogenic and likely pathogenic variants were confirmed by orthologous methods before being reported...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29749343/should-we-use-proton-pump-inhibitors-as-an-add-on-treatment-in-hereditary-hemochromatosis
#3
Haluk Tarık Kani, Feyza Gündüz
No abstract text is available yet for this article.
March 2018: Turkish Journal of Gastroenterology: the Official Journal of Turkish Society of Gastroenterology
https://www.readbyqxmd.com/read/29743178/phenotypic-analysis-of-hemochromatosis-subtypes-reveals-variations-in-severity-of-iron-overload-and-clinical-disease
#4
Kam Sandhu, Kaledas Flintoff, Mark D Chatfield, Jeannette L Dixon, Louise E Ramm, Grant A Ramm, Lawrie W Powell, V Nathan Subramaniam, Daniel F Wallace
The clinical progression of HFE-related hereditary hemochromatosis (HH) and its phenotypic variability has been well studied. Less is known about the natural history of non-HFE HH caused by mutations in the HJV , HAMP or TFR2 genes. The purpose of this study was to compare the phenotypic and clinical presentations of hepcidin-deficient forms of HH. A literature review of all published cases of genetically confirmed HJV, HAMP and TFR2 HH was performed. Phenotypic and clinical data from a total of 156 subjects with non-HFE HH was extracted from 53 publications and compared with data from 984 subjects with HFE -p...
May 9, 2018: Blood
https://www.readbyqxmd.com/read/29731342/radiological-features-of-crystal-induced-arthropathy-associated-with-hereditary-hemochromatosis-with-homozygous-c282y-mutation
#5
Miriam García García
I present a clinical case of a 64-year-old male patient with hemochromatosis (homozygous C282Y) and crystal induced arthropathy showing the most common radiological features found in this metabolic disorder and the differences that may exist when compared to other primary degenerative processes or other inflammatory pathologies.
May 3, 2018: Reumatología Clinica
https://www.readbyqxmd.com/read/29724825/deletion-of-ferroportin-in-murine-myeloid-cells-increases-iron-accumulation-and-stimulates-osteoclastogenesis-in-vitro-and-in-vivo
#6
Lei Wang, Bin Fang, Toshifumi Fujiwara, Kimberly Krager, Akshita Gorantla, Chaoyuan Li, Jian Q Feng, Michael L Jennings, Jian Zhou, Nukhet Aykin-Burns, Haibo Zhao
Osteoporosis, osteopenia, and pathological bone fractures are frequent complications of iron-overload conditions such as hereditary hemochromatosis, thalassemia, and sickle cell disease. Moreover, animal models of iron overload have revealed increased bone resorption and decreased bone formation. Although systemic iron overload affects multiple organs and tissues, leading to significant changes on bone modeling and remodeling, the cell autonomous effects of excessive iron on bone cells remain unknown. Here, to elucidate the role of cellular iron homeostasis in osteoclasts, we generated two mouse strains in which solute carrier family 40 member 1 (Slc40a1), a gene encoding ferroportin (FPN), the sole iron exporter in mammalian cells, were specifically deleted in myeloid osteoclast precursors or mature cells...
May 3, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29695288/evaluation-of-a-bone-morphogenetic-protein-6-variant-as-a-cause-of-iron-loading
#7
Cameron J McDonald, Gautam Rishi, Eriza S Secondes, Lesa Ostini, Daniel F Wallace, Darrell H G Crawford, Hanlon Sia, Paul Clark, V Nathan Subramaniam
BACKGROUND: Atypical iron overload without variation in the five clinically associated hereditary hemochromatosis genes is now recognized; however, their etiology remains unknown. Since the identification of iron overload in the bone morphogenetic protein 6 (Bmp6) knockout mouse, the search has been on for clinically pathogenic variants in the BMP6 gene. A recent report proposes that variants in the pro-peptide region of BMP6 are the underlying cause of several cases of iron overload...
April 25, 2018: Human Genomics
https://www.readbyqxmd.com/read/29656314/-174-g-c-il-6-polymorphism-and-primary-iron-overload-in-male-patients
#8
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/29623879/about-genetic-diagnosis-of-hereditary-hemochromatosis
#9
Henri Michel
No abstract text is available yet for this article.
April 1, 2018: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/29600572/adenine-alleviates-iron-overload-by-camp-pka-mediated-hepatic-hepcidin-in-mice
#10
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
#11
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
#12
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
#13
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 2018: Hepatology International
https://www.readbyqxmd.com/read/29563373/fatal-cardiac-hemochromatosis-in-a-patient-with-hereditary-spherocytosis
#14
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/29543671/iron-overload-cardiomyopathy-from-diagnosis-to-management
#15
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...
May 2018: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/29528818/liver-iron-quantification-with-mr-imaging-a-primer-for-radiologists
#16
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/29511150/gastroscopy-findings-in-a-patient-with-signet-ring-cell-carcinoma-and-late%C3%A2-onset-hereditary-hemochromatosis
#17
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/29431403/mildly-elevated-liver-transaminase-levels-causes-and-evaluation
#18
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
#19
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/29423808/identification-of-genes-for-hereditary-hemochromatosis
#20
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
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