المؤلفون: Marcon, Chiara¹ (AUTHOR) chi.marcon@gmail.com, Medeot, Marta¹ (AUTHOR), Michelazzi, Alessio² (AUTHOR), Simeon, Valentina¹ (AUTHOR), Poz, Alessandra³ (AUTHOR), Cmet, Sara² (AUTHOR), Fontanini, Elisabetta² (AUTHOR), Cussigh, Anna Rosa² (AUTHOR), Chiozzotto, Marianna¹ (AUTHOR), Barillari, Giovanni^1,3 (AUTHOR)

المصدر: Hemato. Dec2024, Vol. 5 Issue 4, p459-489. 31p.

مصطلحات موضوعية: *MOLECULAR genetics, *HEMOCHROMATOSIS, *HYPERFERRITINEMIA, *TRANSFERRIN, *DIFFERENTIAL diagnosis

المؤلفون: Loughnan, Robert^1,2,3,4 rloughna@ucsd.edu, Ahern, Jonathan^1,2, Boyle, Mary¹, Jernigan, Terry L.^1,2,5,6, Hagler Jr, Donald J.^3,6, Iversen, John R.^2,7, Frei, Oleksandr⁸, Smith, Diana M.^2,3,9, Andreassen, Ole⁸, Zaitlen, Noah¹⁰, Sugrue, Leo¹¹, Thompson, Wesley K.⁴, Dale, Anders^1,3,6,12, Schork, Andrew J.^13,14, Chun Chieh Fan^3,4

المصدر: Science Advances. 11/22/2024, Vol. 10 Issue 47, p1-14. 14p.

مصطلحات موضوعية: *HEMOCHROMATOSIS, *IRON in the body, *IRON, *MAGNETIC resonance imaging, *PARKINSON'S disease

المصدر: Studies of Phlebotomy Therapy in Hereditary Hemochromatosis
Lucotte G. Celtic origin of the C282Y mutation of hemochromatosis. Blood Cells Mol Dis. 1998 Dec;24(4):433-8. doi: 10.1006/bcmd.1998.0212.
Feder JN, Tsuchihashi Z, Irrinki A, Lee VK, Mapa FA, Morikang E, Prass CE, Starnes SM, Wolff RK, Parkkila S, Sly WS, Schatzman RC. The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. J Biol Chem. 1997 May 30;272(22):14025-8. doi: 10.1074/jbc.272.22.14025.
Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R Jr, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzman RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996 Aug;13(4):399-408. doi: 10.1038/ng0896-399.
Leitman SF, Browning JN, Yau YY, Mason G, Klein HG, Conry-Cantilena C, Bolan CD. Hemochromatosis subjects as allogeneic blood donors: a prospective study. Transfusion. 2003 Nov;43(11):1538-44. doi: 10.1046/j.1537-2995.2003.00570.x.
Wang X, Mendelsohn L, Rogers H, Leitman S, Raghavachari N, Yang Y, Yau YY, Tallack M, Perkins A, Taylor JG 6th, Noguchi CT, Kato GJ. Heme-bound iron activates placenta growth factor in erythroid cells via erythroid Kruppel-like factor. Blood. 2014 Aug 7;124(6):946-54. doi: 10.1182/blood-2013-11-539718. Epub 2014 Jun 10.

المؤلفون: Johns Hopkins University, Stanford University, University of Texas, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

المصدر: Confounder-Corrected Quantitative Magnetic Resonance Imaging (MRI) Biomarker of Hepatic Iron Content
Hernando D, Zhao R, Yuan Q, Aliyari Ghasabeh M, Ruschke S, Miao X, Karampinos DC, Mao L, Harris DT, Mattison RJ, Jeng MR, Pedrosa I, Kamel IR, Vasanawala S, Yokoo T, Reeder SB. Multicenter Reproducibility of Liver Iron Quantification with 1.5-T and 3.0-T MRI. Radiology. 2023 Feb;306(2):e213256. doi: 10.1148/radiol.213256. Epub 2022 Oct 4.

المؤلفون: Li, Yue¹ (AUTHOR), Duan, Fangfang¹ (AUTHOR), Yang, Song^1,2,3 (AUTHOR) sduyangsong@163.com

المصدر: BMC Medical Genomics. 6/17/2024, Vol. 17 Issue 1, p1-6. 6p.

مصطلحات موضوعية: *HYPERFERRITINEMIA, *HEMOCHROMATOSIS, *IRON overload, *GAIN-of-function mutations

مصطلحات جغرافية: CHINA

المصدر: A Phase II, Multicenter, Open-label, Randomized Two-year Study to Evaluate the Efficacy and Safety of Deferasirox Film-coated Tablet Versus Phlebotomy in Patients With Hereditary Hemochromatosis.

المؤلفون: Barton, James C.^1,2,3 (AUTHOR) bartonjames336@gmail.com, Barton, J. Clayborn² (AUTHOR), Bertoli, Luigi F.^2,3 (AUTHOR), Acton, Ronald T.^2,4 (AUTHOR)

المصدر: PLoS ONE. 5/14/2024, Vol. 19 Issue 5, p1-14. 14p.

مصطلحات موضوعية: *HEMOCHROMATOSIS, *HLA histocompatibility antigens, *FERRITIN, *BODY mass index, *BONFERRONI correction, *LYMPHOCYTE count

المؤلفون: Schaefer, Benedikt¹ (AUTHOR), Pammer, Lorenz M.¹ (AUTHOR), Pfeifer, Bernhard^2,3 (AUTHOR), Neururer, Sabrina^2,3 (AUTHOR), Troppmair, Maria R.¹ (AUTHOR), Panzer, Marlene¹ (AUTHOR), Wagner, Sonja^1,4 (AUTHOR), Pertler, Elke^1,4 (AUTHOR), Gieger, Christian^5,6 (AUTHOR), Kronenberg, Florian⁷ (AUTHOR), Lamina, Claudia⁷ (AUTHOR), Tilg, Herbert¹ (AUTHOR), Zoller, Heinz^1,4 (AUTHOR) heinz.zoller@i‐med.ac.at

المصدر: Liver International. Mar2024, Vol. 44 Issue 3, p838-847. 10p.

مصطلحات موضوعية: *HEMOCHROMATOSIS, *LIFE expectancy, *IRON overload, *COHORT analysis, *HEPATOCELLULAR carcinoma, *CAUSES of death

المؤلفون: Chaiyabutr, Chayada, Dawe, Robert, Ibbotson, Sally H., Clarke, Tara, McGuire, Victoria A.

المصدر: International Journal of Dermatology; Dec2024, Vol. 63 Issue 12, p1707-1712, 6p

مصطلحات موضوعية: HEPATITIS C, HEPATITIS C virus, PORPHYRIA, DISEASE relapse, HEMOCHROMATOSIS

المؤلفون: Montvilaitė-Laurinavičienė, Aistė, Dirsienė, Rūta, Neverauskaitė-Piliponienė, Gintarė, Banišauskaitė, Audra, Šukys, Marius, Šakalytė, Gintarė, Ereminienė, Eglė

المصدر: European Heart Journal Case Reports; Dec2024, Vol. 8 Issue 12, p1-7, 7p

مصطلحات موضوعية: HEMOCHROMATOSIS, HEART failure, CARDIAC magnetic resonance imaging, ETIOLOGY of diseases, TRICUSPID valve insufficiency

الشركة/الكيان: EUROPEAN Society of Cardiology

المؤلفون: Natarajan, Sumathi, Kashyap, Ravindar, Rajan, Saira, Muthusamy, Dhivakar

المصدر: Egyptian Journal of Radiology & Nuclear Medicine; 9/19/2024, Vol. 55 Issue 1, p1-6, 6p

مصطلحات موضوعية: HEMOCHROMATOSIS diagnosis, INBORN errors of metabolism diagnosis, INBORN errors of metabolism, FETAL growth retardation, MAGNETIC resonance imaging, FETAL ultrasonic imaging, TREATMENT effectiveness, PRENATAL diagnosis, HEMOCHROMATOSIS, THYROID gland, WATER-electrolyte balance (Physiology), LIVER, HEMOSIDEROSIS, AMNIOTIC liquid, PREGNANCY complications, EARLY diagnosis

المؤلفون: Cash-Goldwasser, Shama^1,2 tqx7@cdc.gov, Beeson, Amy^1,3, Marzec, Natalie⁴, Ho, Dora Y², Hogan, Catherine A^5,6, Budvytiene, Indre⁵, Banaei, Niaz^2,5,6, Born, Donald E⁶, Gephart, Melanie H⁷, Patel, Jatinbhai⁸, Dietrich, Elizabeth A³, Nelson, Christina A³

المصدر: Clinical Infectious Diseases. 2024 Supplement, Vol. 78, pS55-S63. 9p.

مصطلحات موضوعية: *ANTIBIOTICS, *HEMOCHROMATOSIS, *MIGRAINE, *EPILEPSY, *AMINOGLYCOSIDES, *TULAREMIA, *MAGNETIC resonance imaging, *QUALITATIVE research, *DESCRIPTIVE statistics, *WEIGHT loss, *MENINGITIS, *GREY literature, *SYMPTOMS

المؤلفون: Corti, Paola¹ (AUTHOR) pcorti@fondazionembbm.it, Ferrari, Giulia Maria¹ (AUTHOR), Faraguna, Martha Caterina^1,2 (AUTHOR), Capitoli, Giulia³ (AUTHOR), Longo, Filomena^4,5 (AUTHOR), Corradini, Elena⁶ (AUTHOR), Casini, Tommaso⁷ (AUTHOR), Boscarol, Gianluca⁸ (AUTHOR), Pinto, Valeria Maria⁹ (AUTHOR), Ghilardi, Roberta¹⁰ (AUTHOR), Russo, Giovanna¹¹ (AUTHOR), Colombatti, Raffaella¹² (AUTHOR), Mariani, Raffaella¹³ (AUTHOR), Piperno, Alberto^13,14 (AUTHOR)

المصدر: British Journal of Haematology. Jan2024, Vol. 204 Issue 1, p306-314. 9p.

مصطلحات موضوعية: *HEMOCHROMATOSIS, *IRON chelates, *GAIN-of-function mutations, *MORPHOGENESIS, *GENETIC disorders

المؤلفون: Barton, James C.^1,2 bartonjames336@gmail.com, Barton, J. Clayborn²

المصدر: International Journal of Laboratory Hematology. Dec2023, Vol. 45 Issue 6, p875-880. 6p.

مصطلحات موضوعية: *STATISTICS, *HEMOCHROMATOSIS, *CONFIDENCE intervals, *HEMATOLOGY, *AUTOANALYZERS, *MANN Whitney U Test, *PEARSON correlation (Statistics), *DESCRIPTIVE statistics, *BLOOD volume, *ERYTHROCYTES, *BLOOD cell count, *IRON deficiency anemia, *DATA analysis, *STATISTICAL sampling

المؤلفون: Romero‐Cortadellas, Lídia¹, Venturi, Veronica¹, Martín‐Sánchez, Juan Carlos², Toska, Ketil³, Prince, Dianne⁴, Butzeck, Barbara⁵, Porto, Graça^6,7, Milman, Nils Thorm⁸, Committee, HI/EFAPH Survey⁹, Sánchez, Mayka^1,10 msanchezfe@uic.es

المصدر: Health Expectations. Dec2023, Vol. 26 Issue 6, p2293-2301. 9p.

مصطلحات موضوعية: *HEMOCHROMATOSIS, *HUMAN research subjects, *PRIORITY (Philosophy), *PATIENT-centered care, *ATTITUDES toward illness, *SURVEYS, *INFORMED consent (Medical law), *QUALITY of life, *QUESTIONNAIRES, *DESCRIPTIVE statistics, *RESEARCH funding, *IRON overload, *NEEDS assessment, *SOCIODEMOGRAPHIC factors, *DATA analysis software, *DISEASE management, *DISEASE complications, RESEARCH evaluation

المؤلفون: Adams, Paul C¹ (AUTHOR) padams@uwo.ca, Jeffrey, Gary² (AUTHOR), Ryan, John³ (AUTHOR)

المصدر: Lancet. May/Jun2023, Vol. 401 Issue 10390, p1811-1821. 11p.

مصطلحات موضوعية: HEMOCHROMATOSIS, IRON overload, SYMPTOMS, GENETIC disorder diagnosis, GENETIC disorders, HEPATORENAL syndrome

المؤلفون: Stanford University, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

المصدر: MRI-based Quantitative Susceptibility Mapping of Hepatic Iron Overload

المصدر: Characterization of Cardiac Function in Subjects With Hereditary Hemochromatosis Who Are New York Heart Association Functional Class I
Shizukuda Y, Bolan CD, Tripodi DJ, Yau YY, Nguyen TT, Botello G, Sachdev V, Sidenko S, Ernst I, Waclawiw MA, Leitman SF, Rosing DR. Significance of left atrial contractile function in asymptomatic subjects with hereditary hemochromatosis. Am J Cardiol. 2006 Oct 1;98(7):954-9. doi: 10.1016/j.amjcard.2006.04.040. Epub 2006 Aug 15.
Shizukuda Y, Tripodi DJ, Smith KP, Arena R, Waclawiw MA, Rosing DR. Can we use heart rate recovery information generated by supine ergometry exercise? Am J Cardiol. 2006 Nov 1;98(9):1297-8. doi: 10.1016/j.amjcard.2006.07.009. Epub 2006 Aug 31. No abstract available.
Shizukuda Y, Bolan CD, Tripodi DJ, Yau YY, Smith KP, Sachdev V, Birdsall CW, Sidenko S, Waclawiw MA, Leitman SF, Rosing DR. Left ventricular systolic function during stress echocardiography exercise in subjects with asymptomatic hereditary hemochromatosis. Am J Cardiol. 2006 Sep 1;98(5):694-8. doi: 10.1016/j.amjcard.2006.03.055. Epub 2006 Jul 7.

المؤلفون: Novartis

المصدر: Deferasirox Versus Venesection in Patients With Hemochromatosis and for Treatment of Transfusional Siderosis in Myelodysplastic Syndrome: Diagnostics and New Biomarkers.
Brittenham GM. Iron-chelating therapy for transfusional iron overload. N Engl J Med. 2011 Jan 13;364(2):146-56. doi: 10.1056/NEJMct1004810.
Pietrangelo A. Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment. Gastroenterology. 2010 Aug;139(2):393-408, 408.e1-2. doi: 10.1053/j.gastro.2010.06.013. Epub 2010 Jun 11.
Thorstensen K, Kvitland MA, Irgens WO, Hveem K, Asberg A. Screening for C282Y homozygosity in a Norwegian population (HUNT2): The sensitivity and specificity of transferrin saturation. Scand J Clin Lab Invest. 2010 Apr;70(2):92-7. doi: 10.3109/00365510903527838.
Tziomalos K, Perifanis V. Liver iron content determination by magnetic resonance imaging. World J Gastroenterol. 2010 Apr 7;16(13):1587-97. doi: 10.3748/wjg.v16.i13.1587.
Greenberg P, Cox C, LeBeau MM, Fenaux P, Morel P, Sanz G, Sanz M, Vallespi T, Hamblin T, Oscier D, Ohyashiki K, Toyama K, Aul C, Mufti G, Bennett J. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997 Mar 15;89(6):2079-88. Erratum In: Blood 1998 Feb 1;91(3):1100.
Brissot P, Ropert M, Le Lan C, Loreal O. Non-transferrin bound iron: a key role in iron overload and iron toxicity. Biochim Biophys Acta. 2012 Mar;1820(3):403-10. doi: 10.1016/j.bbagen.2011.07.014. Epub 2011 Aug 9.
Hori A, Mizoue T, Kasai H, Kawai K, Matsushita Y, Nanri A, Sato M, Ohta M. Body iron store as a predictor of oxidative DNA damage in healthy men and women. Cancer Sci. 2010 Feb;101(2):517-22. doi: 10.1111/j.1349-7006.2009.01394.x. Epub 2009 Oct 10.
Barany E, Bergdahl IA, Bratteby LE, Lundh T, Samuelson G, Skerfving S, Oskarsson A. Iron status influences trace element levels in human blood and serum. Environ Res. 2005 Jun;98(2):215-23. doi: 10.1016/j.envres.2004.09.010.
Phatak P, Brissot P, Wurster M, Adams PC, Bonkovsky HL, Gross J, Malfertheiner P, McLaren GD, Niederau C, Piperno A, Powell LW, Russo MW, Stoelzel U, Stremmel W, Griffel L, Lynch N, Zhang Y, Pietrangelo A. A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis. Hepatology. 2010 Nov;52(5):1671-779. doi: 10.1002/hep.23879.
Brissot P, Ball S, Rofail D, Cannon H, Jin VW. Hereditary hemochromatosis: patient experiences of the disease and phlebotomy treatment. Transfusion. 2011 Jun;51(6):1331-8. doi: 10.1111/j.1537-2995.2010.02997.x. Epub 2010 Dec 22.
Messa E, Carturan S, Maffe C, Pautasso M, Bracco E, Roetto A, Messa F, Arruga F, Defilippi I, Rosso V, Zanone C, Rotolo A, Greco E, Pellegrino RM, Alberti D, Saglio G, Cilloni D. Deferasirox is a powerful NF-kappaB inhibitor in myelodysplastic cells and in leukemia cell lines acting independently from cell iron deprivation by chelation and reactive oxygen species scavenging. Haematologica. 2010 Aug;95(8):1308-16. doi: 10.3324/haematol.2009.016824. Epub 2010 Jun 9.

المؤلفون: Qin Ouyang, Yanmeng Li, Anjian Xu, Ning Zhang, Sisi Chen, Donghu Zhou, Bei Zhang, Xiaojuan Ou, Jidong Jia, Jian Huang, Wei Zhang

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Hemochromatosis, BMP4 p.H251Y variant, BMP4 p.R269Q variant, Hepcidin, BMP/SMAD, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/1f34718ff6254962a6b76c2a98dd0a5d