keyword
MENU ▼
Read by QxMD icon Read
search

Hemochromatosis

keyword
https://www.readbyqxmd.com/read/28096133/regulation-of-the-iron-homeostatic-hormone-hepcidin
#1
REVIEW
Veena Sangkhae, Elizabeta Nemeth
Iron is required for many biological processes but is also toxic in excess; thus, body iron balance is maintained through sophisticated regulatory mechanisms. The lack of a regulated iron excretory mechanism means that body iron balance is controlled at the level of absorption from the diet. Iron absorption is regulated by the hepatic peptide hormone hepcidin. Hepcidin also controls iron release from cells that recycle or store iron, thus regulating plasma iron concentrations. Hepcidin exerts its effects through its receptor, the cellular iron exporter ferroportin...
January 2017: Advances in Nutrition
https://www.readbyqxmd.com/read/28092202/is-dna-testing-for-hemochromatosis-diagnosis-reliable
#2
Paul C Adams
No abstract text is available yet for this article.
January 16, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28081023/a-case-study-of-hemochromatosis-and-conflicting-point-shear-wave-measurements-in-the-assessment-of-liver-fibrosis
#3
Tal Cohen, Richard G Barr
There are multiple factors that affect the shear wave speed in the assessment of liver stiffness. In this case report, we present a case of hemochromatosis that has elevated liver stiffness suggestive of significant fibrosis or cirrhosis; however on liver biopsy, no fibrosis was identified. This article will discuss the possibility that liver iron deposition may affect SWE measurements of the liver, leading to inaccurate assessment of liver fibrosis. In these cases, a liver biopsy may be required for accurate liver assessment...
January 9, 2017: Ultrasound Quarterly
https://www.readbyqxmd.com/read/28067690/iron-overload-in-the-liver-of-2-children-nonalcoholic-steatohepatitis-and-juvenile-hemochromatosis
#4
Aysel Ünlüsoy Aksu, Angela Caleffi, Antonello Pietrangelo, Sinan Sari, Ödül Eğritaş Gürkan, Zeliha Demirtaş, Güldal Yilmaz, Buket Dalgiç
BACKGROUND: Iron overload disorders are hereditary hemochromatosis and secondary etiologies other than hereditary hemochromatosis. We describe 2 boys presenting with iron overload. Juvenile hemochromatosis and nonalcoholic steatohepatitis (NASH) related iron overload are the genetic and secondary causes, respectively. OBSERVATIONS: Both patients benefited from phlebotomy even if they had different etiologies. CONCLUSIONS: In childhood, the diagnosis of iron overload syndromes is crucial because they do not confront us with obvious symptoms and findings...
January 6, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28034447/c282y-h63d-hemochromatosis-mutations-and-microevolution-speculations-concerning-the-basque-population
#5
F Bauduer
The Basques live at the Western extremity of the Pyrenees. According to linguistic and genetic data they could be considered as one of the most ancient European populations. Numerous studies have evidenced particular patterns in the frequency of several genetic polymorphisms in this relatively unmixed human group. We discuss herein the puzzling distribution of the two major hemochromatosis HFE mutations associated with hereditary hemochromatosis. Thus, one can observe a low frequency of C282Y and, in contrast, one of the highest European frequencies of H63D...
December 19, 2016: Homo: Internationale Zeitschrift Für die Vergleichende Forschung Am Menschen
https://www.readbyqxmd.com/read/28007423/rgms-structural-insights-molecular-regulation-and-downstream-signaling
#6
REVIEW
Christian Siebold, Toshihide Yamashita, Philippe P Monnier, Bernhard K Mueller, R Jeroen Pasterkamp
Although originally discovered as neuronal growth cone-collapsing factors, repulsive guidance molecules (RGMs) are now known as key players in many fundamental processes, such as cell migration, differentiation, iron homeostasis, and apoptosis, during the development and homeostasis of many tissues and organs, including the nervous, skeletal, and immune systems. Furthermore, three RGMs (RGMa, RGMb/DRAGON, and RGMc/hemojuvelin) have been linked to the pathogenesis of various disorders ranging from multiple sclerosis (MS) to cancer and juvenile hemochromatosis (JHH)...
December 19, 2016: Trends in Cell Biology
https://www.readbyqxmd.com/read/27995906/acg-clinical-guideline-evaluation-of-abnormal-liver-chemistries
#7
Paul Y Kwo, Stanley M Cohen, Joseph K Lim
Clinicians are required to assess abnormal liver chemistries on a daily basis. The most common liver chemistries ordered are serum alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase and bilirubin. These tests should be termed liver chemistries or liver tests. Hepatocellular injury is defined as disproportionate elevation of AST and ALT levels compared with alkaline phosphatase levels. Cholestatic injury is defined as disproportionate elevation of alkaline phosphatase level as compared with AST and ALT levels...
January 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/27994488/an-unfortunate-case-of-acquired-hemochromatosis-a-case-report-review-of-the-clinical-presentation-diagnosis-management-and-prognosis
#8
Anam Tariq, Kevin Westra, Arben Santo
BACKGROUND: While blood transfusions are commonly used for prophylaxis and treatment for acute chest syndromes and strokes in sickle cell patients, accumulation of excess iron resulting in secondary hemochromatosis remains a rare disease. Chelation is the mainstay for preventing and treating iron overload to deter potential end-organ damages; it is rare when therapy fails. CASE REPORT: A 52-year-old African American woman with chronic anemia secondary to sickle cell anemia and history of multiple blood transfusions presented with elevated serum ferritin (8000 ng/mL) and bilirubin (16...
2016: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/27981269/dental-pigmentation-and-hemochromatosis-a-case-report
#9
Mayra Schemel-Suárez, José López-López, Eduardo Chimenos-Küstner
The causes of dental pigmentation are diverse. It can be classified in intrinsic or extrinsic depending on the origin and location of the stain in the affected tooth. This report presents an unusual case of dental pigmentation and enamel loss where the diagnosis of its origin revealed an underlying systemic pathology, unknown to the patient, which could have affected the development of the pigmentation.
December 15, 2016: Quintessence International
https://www.readbyqxmd.com/read/27936457/genetic-disruption-of-nrf2-promotes-the-development-of-necroinflammation-and-liver-fibrosis-in-a-mouse-model-of-hfe-hereditary-hemochromatosis
#10
Tiago L Duarte, Carolina Caldas, Ana G Santos, Sandro Silva-Gomes, Andreia Santos-Gonçalves, Maria João Martins, Graça Porto, José Manuel Lopes
BACKGROUND AND AIMS: In hereditary hemochromatosis, iron deposition in the liver parenchyma may lead to fibrosis, cirrhosis and hepatocellular carcinoma. Most cases are ascribed to a common mutation in the HFE gene, but the extent of clinical expression is greatly influenced by the combined action of yet unidentified genetic and/or environmental modifying factors. In mice, transcription factor NRF2 is a critical determinant of hepatocyte viability during exposure to acute dietary iron overload...
December 1, 2016: Redox Biology
https://www.readbyqxmd.com/read/27933629/accepting-hereditary-hemochromatosis-blood-donors-ask-not-why-ask-why-not
#11
EDITORIAL
Kamille A West, Anne F Eder
No abstract text is available yet for this article.
December 2016: Transfusion
https://www.readbyqxmd.com/read/27915113/white-blood-cells-and-subtypes-in-hfe-p-c282y-and-wild-type-homozygotes-in-the-hemochromatosis-and-iron-overload-screening-study
#12
James C Barton, J Clayborn Barton, Ronald T Acton
The major histocompatibility complex is linked to white blood cell (WBC) and lymphocyte counts in subjects unselected for HFE genotypes. We compared age, sex, body mass index, total WBC and subtypes (neutrophils, lymphocytes, monocytes, eosinophils, basophils) (Beckman Coulter® Gen-S), transferrin saturation, and serum ferritin of HFE p.C282Y and wild-type (p.C282Y, p.H63D negative) homozygotes without acquired conditions that influence WBC counts. We performed regressions on WBC and subtypes. There were 161 p...
November 12, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27903529/angiocrine-bmp2-signaling-in-murine-liver-controls-normal-iron-homeostasis
#13
Philipp-Sebastian Koch, Victor Olsavszky, Friederike Ulbrich, Carsten Sticht, Alexandra Demory, Thomas Leibing, Thomas Henzler, Mathias Meyer, Johanna Zierow, Sven Schneider, Katja Breitkopf-Heinlein, Haristi Gaitantzi, Bradley Spencer-Dene, Bernd Arnold, Kay Klapproth, Kai Schledzewski, Sergij Goerdt, Cyrill Géraud
Microvascular endothelial cells (EC) display a high degree of phenotypic and functional heterogeneity among different organs. Organ-specific EC control their tissue microenvironment by angiocrine factors in health and disease. Liver sinusoidal EC (LSEC) are uniquely differentiated to fulfil important organ-specific functions in development, under homeostatic conditions, and in regeneration and liver pathology. Recently, Bmp2 has been identified by us as an organ-specific angiokine derived from LSEC. To study angiocrine Bmp2 signaling in the liver, we conditionally deleted Bmp2 in LSEC using EC subtype-specific Stab2-Cre mice...
November 30, 2016: Blood
https://www.readbyqxmd.com/read/27902695/text-mining-genotype-phenotype-relationships-from-biomedical-literature-for-database-curation-and-precision-medicine
#14
Ayush Singhal, Michael Simmons, Zhiyong Lu
The practice of precision medicine will ultimately require databases of genes and mutations for healthcare providers to reference in order to understand the clinical implications of each patient's genetic makeup. Although the highest quality databases require manual curation, text mining tools can facilitate the curation process, increasing accuracy, coverage, and productivity. However, to date there are no available text mining tools that offer high-accuracy performance for extracting such triplets from biomedical literature...
November 2016: PLoS Computational Biology
https://www.readbyqxmd.com/read/27899459/sudden-severe-bleeding-in-a-patient-with-hemochromatosis-liver-failure-or-something-else
#15
Nicholas J Olson, Mark A Cervinski, Deborah L Ornstein
No abstract text is available yet for this article.
December 2016: Clinical Chemistry
https://www.readbyqxmd.com/read/27898996/calcium-pyrophosphate-deposition-disease-and-associated-medical-co-morbidities-a-national-cross-sectional-study-of-us-veterans
#16
Crystal Kleiber Balderrama, Ann K Rosenthal, Daniel Lans, Jasvinder A Singh, Christie M Bartels
OBJECTIVE: Calcium pyrophosphate crystal deposition disease (CPDD) is a common cause of acute and chronic arthritis, yet there are few large epidemiologic studies of CPDD. We sought to characterize CPDD in the national Veterans Affairs (VA) population. METHODS: Patients with International Classification of Diseases, ninth revision (ICD-9) codes for CPDD seen at any VA medical center from 2010 through 2014 were matched by age and gender with control patients without CPDD, using data from the Department of Veterans Affairs Corporate Data Warehouse...
November 29, 2016: Arthritis Care & Research
https://www.readbyqxmd.com/read/27896572/identification-of-novel-mutations-in-hfe-hfe2-tfr2-and-slc40a1-genes-in-chinese-patients-affected-by-hereditary-hemochromatosis
#17
Yongwei Wang, Yali Du, Gang Liu, Shanshan Guo, Bo Hou, Xianyong Jiang, Bing Han, Yanzhong Chang, Guangjun Nie
Hereditary hemochromatosis (HH) is a group of inherited iron-overload disorders associated with pathogenic defects in the genes encoding hemochromatosis (HFE), hemojuvelin (HJV/HFE2), hepcidin (HAMP), transferrin receptor 2 (TfR2), and ferroportin (FPN1/SLC40A1) proteins, and the clinical features are well described. However, there have been only a few detailed reports of HH in Chinese populations. Thus, there is insufficient patient information for population-based analyses in Chinese populations or comparative studies among different ethical groups...
November 28, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27871472/an-immunohistochemical-study-of-placental-syncytiotrophoblasts-in-neonatal-hemochromatosis
#18
Aiko Shimono, Yuko Imoto, Haruhiko Sakamoto, Yoichi Chiba, Koichi Matsumoto, Machi Kawauchi, Takashi Kusaka, Hirokazu Tanaka, Toshiyuki Hata, Yoshio Kushida, Masaki Ueno
INTRODUCTION: Neonatal hemochromatosis (NH) is a rare neonatal disorder that results in liver cirrhosis with hemosiderin deposition in the liver and other organs, similarly to hereditary hemochromatosis. Excess iron is transferred from the mother to fetus through the placenta in NH. We examined the expression of iron metabolism-related substances in placental syncytiotrophoblasts (STB) by immunostaining to clarify how the transfer of iron through STB increases in NH. METHODS: Immunostaining was performed using formalin-fixed, paraffin-embedded sections of placentae from three NH cases, four gestational age-matched controls, and, depending on the antibody examined, five to seven full-term controls...
December 2016: Placenta
https://www.readbyqxmd.com/read/27869421/-gestational-alloimmune-liver-disease-a-case-report
#19
Sara Laliena Aznar, Inés Martínez Redondo, María J Oliván Del Cacho, María Martínez Del Moral, Raquel Pinillos Pisón
Gestational alloimmune liver disease, previously known as neonatal hemochromatosis, is characterized by severe liver disease in neonatal period, associated with intra and extrahepatic iron accumulation. It is postulated an alloimmune origin, which has opened new opportunities in the treatment and prevention during risk pregnancies, changing the prognosis of this pathology. We report the case of a newborn that presents early liver failure, with clinical and analytical features compatible with gestational alloimmune liver disease...
December 1, 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27867027/therapeutic-potential-of-hepcidin-the-master-regulator-of-iron-metabolism
#20
REVIEW
Daniel Vyoral, Jiri Petrak
Iron is an essential biogenic element for both prokaryotic and eukaryotic cells. In humans iron is present in hundreds of different metalloproteins. The peptide hormone hepcidin serves as a master regulator of iron homeostasis on the level of single cells and whole organism - by altering cell surface expression of cellular iron exporter - protein ferroportin. Altered levels of extracellular hepcidin lead to pathological conditions such as hemochromatosis and iron loading or, on the other side, iron restrictive anemias...
January 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
keyword
keyword
1987
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"