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Erythrocytosis

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https://www.readbyqxmd.com/read/28057606/diagnostic-approach-to-hemoglobins-with-high-oxygen-affinity-experience-from-france-and-belgium-and-review-of-the-literature
#1
Corentin Orvain, Philippe Joly, Serge Pissard, Stéphanie Badiou, Catherine Badens, Nathalie Bonello-Palot, Nathalie Couque, Béatrice Gulbis, Patricia Aguilar-Martinez
Congenital causes of erythrocytosis are now more easily identified due to the improvement of the molecular characterization of many of them. Among these causes, hemoglobins with high oxygen affinity take a large place. The aim of this work was to reevaluate the diagnostic approach of these disorders. To assess the current practices, we sent a questionnaire to the expert laboratories in the diagnosis of hemoglobinopathies in France and Belgium. In parallel, we gathered the methods used for the diagnosis of the hemoglobins with high oxygen affinity indexed in the international database HbVar...
January 5, 2017: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/28028026/diagnosis-risk-stratification-and-response-evaluation-in-classical-myeloproliferative-neoplasms
#2
Elisa Rumi, Mario Cazzola
Philadelphia-negative classical myeloproliferative neoplasms include polycythemia vera, essential thrombocythemia, and primary myelofibrosis. The 2016 revision of the World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues includes new criteria for the diagnosis of these disorders. Somatic mutations in the 3 driver genes, that is, JAK2, CALR, and MPL, represent major diagnostic criteria in combination with hematologic and morphological abnormalities. Polycythemia vera is characterized by erythrocytosis with suppressed endogenous erythropoietin production, bone marrow panmyelosis, and JAK2 mutation...
December 27, 2016: Blood
https://www.readbyqxmd.com/read/28007792/association-between-sleep-apnoea-and-pulmonary-hypertension-in-kyrgyz-highlanders
#3
Tsogyal D Latshang, Michael Furian, Sayaka S Aeschbacher, Silvia Ulrich, Batyr Osmonov, Erkin M Mirrakhimov, Jainagul Isakova, Almaz A Aldashev, Talant M Sooronbaev, Konrad E Bloch
This case-control study evaluates a possible association between high altitude pulmonary hypertension (HAPH) and sleep apnoea in people living at high altitude.Ninety highlanders living at altitudes >2500 m without excessive erythrocytosis and with normal spirometry were studied at 3250 m (Aksay, Kyrgyzstan); 34 healthy lowlanders living below 800 m were studied at 760 m (Bishkek, Kyrgyzstan). Echocardiography, polysomnography and other outcomes were assessed. Thirty-six highlanders with elevated mean pulmonary artery pressure (mPAP) >30 mmHg (31-42 mmHg by echocardiography) were designated as HAPH+...
December 22, 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/27991718/polycythemia-vera-and-essential-thrombocythemia-2017-update-on-diagnosis-risk-stratification-and-management
#4
Ayalew Tefferi, Tiziano Barbui
DISEASE OVERVIEW: Polycythemia Vera (PV) and essential thrombocythemia (ET) are myeloproliferative neoplasms respectively characterized by erythrocytosis and thrombocytosis; other disease features include leukocytosis, splenomegaly, thrombosis, bleeding, microcirculatory symptoms, pruritus, and risk of leukemic or fibrotic transformation. DIAGNOSIS: PV is defined by a JAK2 mutation, whose absence, combined with normal or increased serum erythropoietin level, makes the diagnosis unlikely...
January 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/27966384/secondary-erythrocytosis-caused-by-hemoglobin-tak-%C3%AE-0-thalassaemia-disease-during-pregnancy-a-case-report
#5
Fuanglada Tongprasert, Pimlak Charoenkwan, Kasemsri Srisupundit, Adisak Tantiworawit
No abstract text is available yet for this article.
December 14, 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27924280/the-role-of-the-exon-13-g571s-jak2-mutation-in-myeloproliferative-neoplasms
#6
Burak Bahar, Kevin Barton, Ameet R Kini
The exon 14 JAK2 V617F mutation has been well established as a driver mutation in polycythemia vera (PV) and other myeloproliferative neoplasms. JAK2 exon 12 mutations have also been implicated in PV, although patients with these mutations may show isolated erythrocytosis. Recently additional JAK2point mutations have been described-all in regions encoding the pseudokinase domain that regulates the tyrosine kinase activity of JAK2. We present a case of a patient with erythrocytosis and an exon 13 G571S mutation, and discuss the putative role of this mutation in myeloproliferative neoplasms...
2016: Leukemia Research Reports
https://www.readbyqxmd.com/read/27899852/baseline-hemoglobin-levels-associated-with-one-year-mortality-in-st-segment-elevation-myocardial-infarction-patients
#7
Cheng-Wei Liu, Pen-Chih Liao, Kuo-Chin Chen, Jung-Cheng Hsu, Ai-Hsien Li, Chung-Ming Tu, Yen-Wen Wu
BACKGROUND: The association between hemoglobin (Hb) levels and mortality in patients with ST-segment elevation myocardial infarction (STEMI) remains controversial. The purpose of this study was to examine the mortality among STEMI patients with anemia or erythrocytosis, and further establish the relationship between mortality and the increment of Hb level. METHODS: Between 2006 and 2012, 951 consecutive patients with STEMI undergoing primary percutaneous coronary intervention in a medical center in Northern Taiwan were enrolled in our study, including 535 patients with normal Hb level, 148 with anemia (male Hb ≤ 13 g/dl, female ≤ 12) and 268 with erythrocytosis (male Hb ≥ 16, female ≥ 15)...
November 2016: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/27821476/notch-downregulation-and-extramedullary-erythrocytosis-in-hypoxia-inducible-factor-prolyl-4-hydroxylase-2-deficient-mice
#8
Mikko N M Myllymäki, Jenni Määttä, Elitsa Y Dimova, Valerio Izzi, Timo Väisänen, Johanna Myllyharju, Peppi Koivunen, Raisa Serpi
Erythrocytosis is driven mainly by erythropoietin, which is regulated by hypoxia-inducible factor (HIF). Mutations in HIF prolyl 4-hydroxylase 2 (HIF-P4H-2) (PHD2/EGLN1), the major downregulator of HIFα subunits, are found in familiar erythrocytosis, and large-spectrum conditional inactivation of HIF-P4H-2 in mice leads to severe erythrocytosis. Although bone marrow is the primary site for erythropoiesis, spleen remains capable of extramedullary erythropoiesis. We studied HIF-P4H-2-deficient (Hif-p4h-2(gt/gt)) mice, which show slightly induced erythropoiesis upon aging despite nonincreased erythropoietin levels, and identified spleen as the site of extramedullary erythropoiesis...
January 15, 2017: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/27774607/erythrocytosis-in-hepatocellular-carcinoma-portends-poor-prognosis-by-respiratory-dysfunction-secondary-to-mitochondrial-dna-mutations
#9
Shizhong Ke, Shuzhen Chen, Zihui Dong, Christopher S Hong, Qi Zhang, Liang Tang, Pinghua Yang, Jian Zhai, Hexin Yan, Feng Shen, Zhengping Zhuang, Wen Wen, Hongyang Wang
: Erythrocytosis is a common paraneoplastic syndrome associated with hepatocellular carcinoma. Although increased erythropoietin (EPO) is found in these patients, the clinical significance and molecular mechanisms underlying this observation are unclear. We demonstrate an inverse relationship between EPO production and overall prognosis in our cohort of 664 patients as well as in data from The Cancer Genome Atlas. In the subset of hepatocellular carcinoma patients with erythrocytosis, we identified somatic mutations of mitochondrial DNA, resulting in impairment of respiratory metabolism, which sequentially led to depletion of α-ketoglutarate, stabilization of hypoxia inducible factor-α, and expression of target genes such as EPO...
January 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/27651169/gene-panel-sequencing-improves-the-diagnostic-work-up-of-patients-with-idiopathic-erythrocytosis-and-identifies-new-mutations
#10
Carme Camps, Nayia Petousi, Celeste Bento, Holger Cario, Richard R Copley, Mary Frances McMullin, Richard vanWijk, Peter J Ratcliffe, Peter A Robbins, Jenny C Taylor
Erythrocytosis is a rare disorder characterized by increased red cell mass and elevated hemoglobin concentration and hematocrit. Several genetic variants have been identified as causes for erythrocytosis in genes belonging to different pathways including oxygen sensing, erythropoiesis and oxygen transport. However, despite clinical investigation and screening for these mutations, the cause of disease cannot be found in a considerable number of patients, who are classified as having idiopathic erythrocytosis...
September 20, 2016: Haematologica
https://www.readbyqxmd.com/read/27637720/high-oxygen-affinity-hemoglobins
#11
O Mangin
High oxygen affinity hemoglobins are responsible for rare and heterogeneous autosomic dominant genetic diseases. They cause pure erythrocytosis, sometimes accountable for hyperviscosity and thrombosis, or hemolysis. Differential diagnoses must be first ruled out. The diagnosis is based on the identification of a decreased P50, and their possible characterization by cation exchange-high performance liquid chromatography and capillary electrophoresis. Finally, genetic studies of the responsible globin chain gene will confirm the mutation...
September 13, 2016: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/27618352/erythrocytosis-due-to-presumed-polycythemia-vera
#12
Rushad Patell, Karl Theil, Alan Lichtin
No abstract text is available yet for this article.
September 2016: Cleveland Clinic Journal of Medicine
https://www.readbyqxmd.com/read/27605561/hypercapnic-ventilatory-response-is-decreased-in-a-mouse-model-of-excessive-erythrocytosis
#13
Sofien Laouafa, Elizabeth Elliot-Portal, Susana Revollo, Edith M Schneider Gasser, Vincent Joseph, Nicolas Voituron, Max Gassmann, Jorge Soliz
The impact of cerebral Epo in the regulation of the hypercapnic ventilatory response (HcVR) is controversial. While we reported that cerebral Epo does not affect the central chemosensitivity in C57Bl6 mice receiving an intracisternal injection of sEpoR (the endogenous antagonist of Epo), a recent study in transgenic mice with constitutive high levels of human Epo in brain and circulation (Tg6) and in brain only (Tg21), showed that Epo blunts the HcVR, maybe by interacting with central and peripheral chemoreceptors...
September 7, 2016: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/27600268/a-novel-biological-function-of-soluble-biglycan-induction-of-erythropoietin-production-and-polycythemia
#14
Helena Frey, Kristin Moreth, Louise Tzung-Harn Hsieh, Jinyang Zeng-Brouwers, Birgit Rathkolb, Helmut Fuchs, Valérie Gailus-Durner, Renato V Iozzo, Martin Hrabě de Angelis, Liliana Schaefer
Secondary polycythemia, a disease characterized by a selective increase in circulating mature erythrocytes, is caused by enhanced erythropoietin (Epo) concentrations triggered by hypoxia-inducible factor-2α (HIF-2α). While mechanisms of hypoxia-dependent stabilization of HIF-2α protein are well established, data regarding oxygen-independent regulation of HIF-2α are sparse. In this study, we generated a novel transgenic mouse model, in which biglycan was constitutively overexpressed and secreted by hepatocytes (BGN (Tg)), thereby providing a constant source of biglycan released into the blood stream...
September 6, 2016: Glycoconjugate Journal
https://www.readbyqxmd.com/read/27561929/structural-basis-for-oxygen-degradation-domain-selectivity-of-the-hif-prolyl-hydroxylases
#15
Rasheduzzaman Chowdhury, Ivanhoe K H Leung, Ya-Min Tian, Martine I Abboud, Wei Ge, Carmen Domene, François-Xavier Cantrelle, Isabelle Landrieu, Adam P Hardy, Christopher W Pugh, Peter J Ratcliffe, Timothy D W Claridge, Christopher J Schofield
The response to hypoxia in animals involves the expression of multiple genes regulated by the αβ-hypoxia-inducible transcription factors (HIFs). The hypoxia-sensing mechanism involves oxygen limited hydroxylation of prolyl residues in the N- and C-terminal oxygen-dependent degradation domains (NODD and CODD) of HIFα isoforms, as catalysed by prolyl hydroxylases (PHD 1-3). Prolyl hydroxylation promotes binding of HIFα to the von Hippel-Lindau protein (VHL)-elongin B/C complex, thus signalling for proteosomal degradation of HIFα...
2016: Nature Communications
https://www.readbyqxmd.com/read/27553987/hypogonadism-associated-with-muscle-atrophy-physical-inactivity-and-esa-hyporesponsiveness-in-men-undergoing-haemodialysis
#16
Gabriela Cobo, Paloma Gallar, Cristina Di Gioia, Concepción García Lacalle, Rosa Camacho, Isabel Rodriguez, Olimpia Ortega, Carmen Mon, Ana Vigil, Bengt Lindholm, Juan Jesús Carrero
BACKGROUND: Testosterone deficiency (hypogonadism) is common among men undergoing haemodialysis, but its clinical implications are not well characterized. Testosterone is an anabolic hormone that induces erythrocytosis and muscle synthesis. We hypothesized that testosterone deficiency would be associated with low muscle mass, physical inactivity and higher dosages of erythropoietin-stimulating agents (ESA). METHODS: Single-center cross-sectional study of 57 male haemodialysis patients...
August 20, 2016: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/27544511/development-of-acute-lymphoblastic-leukemia-with-igh-epor-in-a-patient-with-secondary-erythrocytosis
#17
Kenichi Sakamoto, Seiji Tanaka, Chihiro Tomoyasu, Toshihiro Tomii, Mio Yano, Kazutaka Takagi, Tsutsumi Yasuhiko, Nobuhiko Uoshima, Hiroshi Komatsu, Toshihiko Imamura
We report the first patient to develop ALL with a fusion gene of the erythropoietin receptor (EPOR) with immunoglobulin heavy chain (IgH) 22 years after a diagnosis of secondary erythrocytosis with unknown etiology. The IgH-EPOR rearrangement is known to induce increased expression of EPOR, and activates EPO-associated signal pathways by exogenous EPO stimulation, resulting in the increased proliferation and survival of IgH-EPOR-positive leukemic cells. Interestingly, this case may provide supporting the possibility that IgH-EPOR-positive ALL has a growth advantage under sustained high concentrations of EPO...
December 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27510310/surgical-treatment-for-thoracoabdominal-intra-aortic-thrombus-with-multiple-infarctions-a-case-report
#18
Kenichiro Uchida, Mitsuharu Hosono, Toshihiko Shibata, Daisuke Kaku, Tomonori Yamamoto, Takafumi Terada, Naoki Shinyama, Yasumitsu Mizobata
BACKGROUND: Mobile intra-aortic thrombus without atherosclerosis, aneurysm, or congenital coagulopathy is very rare, and there are few reports especially in young or middle-aged patients. Furthermore, there are presently no established guidelines or common strategies for the treatment of mobile intra-aortic thrombus. In this case report, we describe the first case of intra-aortic thrombus caused by secondary erythrocytosis and describe the recommended treatment strategy for intra-aortic thrombus...
August 10, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27498743/roles-of-transferrin-receptors-in-erythropoiesis
#19
Hiroshi Kawabata, Soichiro Sakamoto, Taro Masuda, Tatsuki Uchiyama, Katsuyuki Ohmori, H Phillip Koeffler, Akifumi Takaori-Kondo
Erythropoiesis requires large amounts of iron for hemoglobin synthesis, which is mainly provided by macrophages and the intestines in a transferrin (Tf)-bound form. Bone marrow erythroblasts incorporate Tf through endocytosis, which is mediated by transferrin receptor 1 (TFR1). Recently, human TFR1, aside from its role as a Tf receptor, was also found to be a receptor for the H-subunit of ferritin (FTH). In humans, hematopoietic erythroid precursor cells express high levels of TFR1 and specifically take up the FTH homopolymer (H-ferritin)...
July 2016: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/27491085/loss-of-vhl-in-the-zebrafish-pronephros-recapitulates-early-stages-of-human-clear-cell-renal-cell-carcinoma
#20
Haley R Noonan, Ana M Metelo, Caramai N Kamei, Randall T Peterson, Iain A Drummond, Othon Iliopoulos
Patients with von Hippel-Lindau (VHL) disease harbor a germline mutation in the VHL gene leading to the development of several tumor types including clear cell renal cell carcinoma (ccRCC). In addition, the VHL gene is inactivated in over 90% of sporadic ccRCC cases. 'Clear cell' tumors contain large, proliferating cells with 'clear cytoplasm', and a reduced number of cilia. VHL inactivation leads to the stabilization of hypoxia inducible factors 1a and 2a [HIF1a and HIF2a (HIF2a is also known as EPAS1)] with consequent up-regulation of specific target genes involved in cell proliferation, angiogenesis and erythropoiesis...
August 1, 2016: Disease Models & Mechanisms
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