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hereditary hemochromatosis

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https://www.readbyqxmd.com/read/29991100/coexistent-alpha-1-antitrypsin-deficiency-and-hereditary-hemochromatosis
#1
Anthony P Fiegen, B Joel Tjarks, Tanner J Ferguson, Renita A Goetz, Allie E Ladd, Kimberlee C Tams
Alpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis are systemic diseases inherited in an autosomal recessive fashion. The primary manifestation of AAT is early-onset pulmonary disease, while hemochromatosis primarily affects function of the liver, heart, and pancreas through excess iron deposition. No clear association between the two diseases has been delineated. We present a case in which a 34-year old female patient presenting with elevated liver enzymes during a visit for an unrelated acute illness was found to be a homozygous variant for AAT deficiency and hereditary hemochromatosis...
March 2018: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/29985876/a-rare-case-of-a-2-year-old-boy-with-alagille-syndrome-type-3-hereditary-hemochromatosis-with-tfr2-mutation
#2
Ammar A Khayat, Mariko Suchi, Bernadette Vitola
No abstract text is available yet for this article.
July 6, 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29966105/hemochromatosis-pathophysiology-evaluation-and-management-of-hepatic-iron-overload-with-a-focus-on-mri
#3
Shmuel Golfeyz, Sara Lewis, Ilan S Weisberg
Hereditary hemochromatosis (HH) is an autosomal recessive disorder that occurs in approximately 1 in 200-250 individuals. Mutations in the HFE gene leads to excess iron absorption. Excess iron in the form of non-transferrin bound iron (NTBI) causes injury and is readily up-taken by cardiomyocytes, pancreatic islet cells and hepatocytes. Symptoms greatly vary among patients and include fatigue, abdominal pain, arthralgias, impotence, decreased libido, diabetes and heart failure. Untreated hemochromatosis can lead to chronic liver disease, fibrosis, cirrhosis, and hepatocellular carcinoma (HCC)...
July 2, 2018: Expert Review of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/29955402/hepatic-iron-overload-following-liver-transplantation-from-a-c282y-h63d-compound-heterozygous-donor
#4
E Veitsman, E Pras, O Pappo, A Arish, R Eshkenazi, C Feray, J Calderaro, D Azoulay, Z Ben Ari
Hereditary hemochromatosis (HH) is a genetic disease associated with progressive iron overload, eventually leading in some cases to damage of parenchymal organs, such as the liver, pancreas, and heart. Although the gene had been identified (HFE), HH pathogenesis remains to be fully elucidated. We report here, for the first time, a case of inadvertent transplantation of a liver from a donor with C282Y/H63D compound heterozygosity into a nonhemochromatotic 19-year-old Caucasian male recipient with primary sclerosing cholangitis...
2018: Case Reports in Hepatology
https://www.readbyqxmd.com/read/29927322/liver-hfe-protein-content-is-posttranscriptionally-decreased-in-iron-deficient-mice-and-rats
#5
Jana Frydlova, Daniel W Rogalsky, Jaroslav Truksa, Lisa Traeger, Andrea U Steinbicker, Martin Vokurka, Jan Krijt
Although the relationship between hereditary hemochromatosis and mutations in the HFE gene was discovered more than 20 years ago, information on the in vivo regulation of HFE protein expression is still limited. The purpose of the study was to determine the response of liver HFE protein content to iron deficiency in mice and rats by immunoblotting. Attempts to visualize the HFE protein in whole liver homogenates were unsuccessful; however, HFE could be detected in liver microsomes or in plasma membrane-enriched fractions...
June 21, 2018: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/29897731/small-molecule-inhibitors-of-nfkb-reverse-iron-overload-and-hepcidin-deregulation-in-a-zebrafish-model-for-hereditary-hemochromatosis-type-3
#6
Sandeep Basu, Kanika Jalodia, Shashi Ranjan, Jing-Ruey J Yeh, Randall T Peterson, Chetana Sachidanandan
Hereditary hemochromatosis (HH) is one of the most common genetic disorders in Caucasian populations, with no viable therapeutic options except phlebotomy. We describe a zebrafish model of human HH (HH) created by targeted mutagenesis of the gene encoding transferrin receptor 2 ( tfr2). TFR2 mutations in humans lead to HH Type 3, a rare but severe form of the disease. The tfr2 mutant model in zebrafish recapitulates the defining features of HH3: iron overload and suppression of hepcidin, the iron regulatory hormone...
June 28, 2018: ACS Chemical Biology
https://www.readbyqxmd.com/read/29858708/iron-and-a-man-s-reproductive-health-the-good-the-bad-and-the-ugly
#7
REVIEW
J Scott Gabrielsen, Dolores J Lamb, Larry I Lipshultz
PURPOSE OF REVIEW: To discuss the physiologic and pathologic effects of iron on men's reproductive health. RECENT FINDINGS: Iron overload diseases are associated with hypogonadotropic hypogonadism, infertility, and sexual dysfunction in men. Recent findings have elucidated the roles by which iron may affect the male reproductive axis. Iron is requisite for life. Iron can also catalyze the production of reactive oxygen species. To maintain balance, the human body tightly regulates dietary iron absorption...
June 1, 2018: Current Urology Reports
https://www.readbyqxmd.com/read/29799786/food-deprivation-increases-hepatic-hepcidin-expression-and-can-overcome-the-effect-of-hfe-deletion-in-male-mice
#8
Cornel S G Mirciov, Sarah J Wilkins, Gregory J Anderson, David M Frazer
Iron-loading disorders, such as hereditary hemochromatosis, are associated with inappropriately low expression of the iron regulatory hormone, hepcidin. A recent study has demonstrated that food deprivation can increase hepcidin production in mice. We have examined this effect in more detail to determine whether the pathway(s) that are responsible might provide novel targets for pharmaceutical intervention in disorders of iron homeostasis. C57BL/6 mice were deprived of food for 5, 10, 16, or 24 h before euthanasia, then blood and tissue samples were collected for analysis...
May 25, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29765443/management-of-cardiac-hemochromatosis
#9
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
#10
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...
June 7, 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
#11
COMMENT
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
#12
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
#13
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
#14
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, was specifically deleted in myeloid osteoclast precursors or mature cells...
June 15, 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
#15
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
#16
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
#17
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
#18
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...
September 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29597199/diagnosis-of-hereditary-spherocytosis-and-secondary-hemochromatosis-in-a-patient-with-jaundice
#19
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.
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
#20
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
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