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Erythrocytosis

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https://www.readbyqxmd.com/read/28332377/hb-heathrow-%C3%AE-103-g5-phe%C3%A2-leu-a-first-report-in-an-asian-patient-with-erythrocytosis
#1
Sang Yong Shin, Hyun Young Kim, Hee Jin Kim, Hoon Gu Kim
Congenital erythrocytosis (CE) is a rare and heterogeneous disease. The high oxygen affinity hemoglobin (Hb) variants are the most common cause of CE. Herein, we report a Korean patient with isolated erythrocytosis. A 25-year-old man was referred to our hospital for evaluation of high Hb level (Hb 20.4 g/dL, hematocrit 58%, reticulocyte count 2.90%, white blood cell count 6.83×10⁹/L, and platelet count 195×10⁹/L). Bone marrow biopsy revealed normocellular marrow without myeloproliferative features. JAK2 (V617F, exon 12), CALR (exon 9), and MPL W515K/L mutations were not detected...
May 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28304249/diagnosis-and-management-of-polycythemia-vera-in-a-ferret-mustela-putorius-furo
#2
Kim Le, Hugues Beaufrère, Laura L Bassel, Sarah Wills, Delphine Laniesse, Shauna L Blois, Dale A Smith
A 5-y-old female ferret (Mustela putorius furo) was evaluated for diarrhea, anorexia, and lethargy for 1 wk. Only mild dehydration was detected on physical examination. CBC analysis revealed marked erythrocytosis with an unremarkable plasma biochemistry panel; follow-up CBC analyses revealed a consistent primary erythrocytosis. Whole-body radiographs and abdominal ultrasonography were unremarkable except for a small nephrolith in the right kidney and a small cyst in the left kidney. The plasma erythropoietin level was 17...
December 1, 2016: Comparative Medicine
https://www.readbyqxmd.com/read/28280082/bumpy-road-to-the-diagnosis-of-polycythaemia-vera
#3
Rita de Sousa Gameiro, Ana Rodrigues, Fernando Martos Gonçalves, José Pimenta da Graça
Polycythaemia vera (PV) is the most common myeloproliferative neoplasm, characterised by increased red cell mass that can present as an unspecified symptom or a thrombohaemorrhagic event. Its diagnosis is based on the presence of erythrocytosis, the identification of the Janus kinase 2 mutation and bone marrow aspirate or biopsy alterations. The challenge of this disease lies on the treatment approach. Its cornerstone is phlebotomy, but depending on the vascular risk, it can include cytoreductive agents, low-dose aspirin or even anticoagulation...
March 9, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28259826/medical-management-of-extensive-arterial-thromboembolism-in-a-patient-with-essential-thrombocythemia-and-warfarin-failure
#4
Aisha K Ahmed, Alicia Youssef, Nedaa Skeik
Chronic myeloproliferative disorders (CMPD) share a stem cell-derived clonal myeloproliferation. This group of disorders includes essential thrombocythemia (ET), polycythemia vera (PV), chronic myeloid leukemia (CML), and primary myelofibrosis (PMF), with the respective features of thrombocytosis, erythrocytosis, and bone marrow fibrosis(1). These disorders can be associated with genetic mutations affecting protein tyrosine kinases, resulting in different configurations of abnormal signal transduction. The Janus tyrosine kinase 2 (JAK2) mutation can be used as a key diagnostic tool for diagnosing MPDs, specifically, ET, PV, and PMF(2)...
March 1, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28252631/-myeloproliferative-masks-of-multiple-myeloma-a-review-of-literature-and-clinical-case-reports
#5
V V Ryzhko, A E Grachev, A A Klodzinsky, T V Ivanova, M S Sataeva, E O Gribanova
Concurrences of multiple myeloma with myeloproliferative diseases or secondary myeloid leukemoid reactions are rather rare. The paper describes 3 cases of multiple myeloma: the first case concurrent with neutrophilic leukocytosis; the second case with secondary erythropoetin-dependent erythrocytosis, and the third case with chronic myeloid leukemia. In such cases, an accurate diagnosis requires molecular testing, besides routine clinical and laboratory studies. The paper discusses therapeutic strategy in cases of a concurrence of 2 competing tumors of the blood system: to treat them simultaneously or the most aggressive tumor now, as well as a relationship between multiple myeloma and chronic myeloid leukemia, other myeloproliferative disorders, and secondary myeloid leukemoid reactions...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28182057/idiopathic-erythrocytosis-in-iga-nephropathy
#6
E Mahesh, P R Madhyastha, M Kalashetty, K C Gurudev, S Bande, M M John
We report a case of idiopathic erythrocytosis in a 31-year-old male who was incidentally detected to have hypertension during his preemployment checkup. Urine routine showed proteinuria and hematuria. Biochemical parameters revealed raised serum creatinine, and histological findings of the renal biopsy showed IgAN.
January 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/28181217/hypercoagulability-and-migraine
#7
Gretchen E Tietjen, Stuart A Collins
BACKGROUND: A growing body of literature suggests that migraineurs, particularly those with aura, have an increased risk for ischemic stroke, but not via enhanced atherosclerosis. The theory that micro-emboli induced ischemia provokes cortical spreading depression (ie, symptomatic aura) in migraineurs but transient ischemic attacks in others highlights a potential role for hypercoagulability as a link between migraine (with aura) and stroke. AIM: Our objective is to summarize the literature evaluating the association of migraine with various acquired or inheritable thrombophilic states, including those related to elevated estrogen levels, endothelial activation and dysfunction, antiphospholipid antibodies (aPL), deficiency of coagulation inhibitors, and presence of certain genetic polymorphisms...
February 9, 2017: Headache
https://www.readbyqxmd.com/read/28057606/diagnostic-approach-to-hemoglobins-with-high-oxygen-affinity-experience-from-france-and-belgium-and-review-of-the-literature
#8
REVIEW
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...
February 1, 2017: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/28028026/diagnosis-risk-stratification-and-response-evaluation-in-classical-myeloproliferative-neoplasms
#9
REVIEW
Elisa Rumi, Mario Cazzola
Philadelphia-negative classical myeloproliferative neoplasms (MPNs) include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). The 2016 revision of the WHO Classification of Tumours of Haematopoietic 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. PV is characterized by erythrocytosis with suppressed endogenous erythropoietin production, bone marrow panmyelosis, and JAK2 mutation...
February 9, 2017: Blood
https://www.readbyqxmd.com/read/28007792/association-between-sleep-apnoea-and-pulmonary-hypertension-in-kyrgyz-highlanders
#10
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+...
February 2017: 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
#11
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
#12
Fuanglada Tongprasert, Pimlak Charoenkwan, Kasemsri Srisupundit, Adisak Tantiworawit
No abstract text is available yet for this article.
February 2017: 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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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