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Polycythemia

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https://www.readbyqxmd.com/read/28096303/down-regulation-of-epas1-transcription-and-genetic-adaptation-of-tibetans-to-high-altitude-hypoxia
#1
Yi Peng, Chaoying Cui, Yaoxi He, Ouzhuluobu, Hui Zhang, Deying Yang, Qu Zhang, Bianbazhuoma, Lixin Yang, Yibo He, Kun Xiang, Xiaoming Zhang, Sushil Bhandari, Peng Shi, Yangla, Dejiquzong, Baimakangzhuo, Duojizhuoma, Yongyue Pan, Cirenyangji, Baimayangji, Gonggalanzi, Caijuan Bai, Bianba, Basang, Ciwangsangbu, Shuhua Xu, Hua Chen, Shimin Liu, Tianyi Wu, Xuebin Qi, Bing Su
Tibetans are well adapted to the hypoxic environments at high altitude, yet the molecular mechanism of this adaptation remains elusive. We reported comprehensive genetic and functional analyses of EPAS1, a gene encoding hypoxia inducible factor 2α (HIF-2α) with the strongest signal of selection in previous genome-wide scans of Tibetans. We showed that the Tibetan-enriched EPAS1 variants down-regulate expression in human umbilical endothelial cells and placentas. Heterozygous EPAS1 knockout mice display blunted physiological responses to chronic hypoxia, mirroring the situation in Tibetans...
January 17, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28095380/polycythemia-vera-management-and-challenges-in-the-community-health-setting
#2
Aaron T Gerds, Kim-Hien Dao
Patients with polycythemia vera (PV) experience shortened survival, increased risk of thromboembolic and hemorrhagic events, and burdensome symptoms. For all patients with PV, treatment with aspirin and hematocrit control with phlebotomy are recommended. In addition, patients with high-risk status or poor hematocrit control benefit from cytoreductive therapy with hydroxyurea, although approximately 1 in 4 patients develops resistance or intolerance. For patients who are resistant to or intolerant of hydroxyurea, studies have shown that ruxolitinib, a Janus kinase 1/2 inhibitor, provides hematocrit control, reduces spleen size, normalizes blood counts, and improves PV-related symptoms...
January 18, 2017: Oncology
https://www.readbyqxmd.com/read/28087258/hyponatremic-hypertensive-syndrome-in-a-preterm-infant-with-twin-anemia-polycythemia-sequence
#3
Yun Jeong Lee, Seung Hyun Shin, Sae Yun Kim, Seung Han Shin, Young Hoon Choi, Ee-Kyung Kim, Han-Suk Kim
No abstract text is available yet for this article.
October 28, 2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28068330/loss-of-p53-induces-leukemic-transformation-in-a-murine-model-of-jak2-v617f-driven-polycythemia-vera
#4
T Tsuruta-Kishino, J Koya, K Kataoka, K Narukawa, Y Sumitomo, H Kobayashi, T Sato, M Kurokawa
As leukemic transformation of myeloproliferative neoplasms (MPNs) worsens the clinical outcome, reducing the inherent risk of the critical event in MPN cases could be beneficial. Among genetic alterations concerning the transformation, the frequent one is TP53 mutation. Here we show that retroviral overexpression of Jak2 V617F mutant into wild-type p53 murine bone marrow cells induced polycythemia vera (PV) in the recipient mice, whereas Jak2 V617F-transduced p53-null mice developed lethal leukemia after the preceding PV phase...
January 9, 2017: Oncogene
https://www.readbyqxmd.com/read/28066591/relationship-between-polycythemia-and-in-hospital-mortality-in-chronic-obstructive-pulmonary-disease-patients-with-low-risk-pulmonary-embolism
#5
Lu Guo, Aamer Rasheed Chughtai, Hongli Jiang, Lingyun Gao, Yan Yang, Yang Yang, Yuejian Liu, Zhenliang Xie, Weimin Li
BACKGROUNDS: Pulmonary embolism (PE) is frequent in subjects with chronic obstructive pulmonary disease (COPD) and associated with high mortality. This multi-center retrospective study was performed to investigate if secondary polycythemia is associated with in-hospital mortality in COPD patients with low-risk PE. METHODS: We identified COPD patients with proven PE between October, 2005 and October, 2015. Patients in risk classes III-V on the basis of the PESI score were excluded...
November 2016: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28057739/aberrant-let7a-hmga2-signaling-activity-with-unique-clinical-phenotype-in-jak2-mutated-myeloproliferative-neoplasms
#6
Chih-Cheng Chen, Jie-Yu You, Jrhau Lung, Cih-En Huang, Yi-Yang Chen, Yu-Wei Leu, Hsing-Ying Ho, Chian-Pei Li, Chang-Hsien Lu, Kuan-Der Lee, Chia-Chen Hsu, Jyh-Pyng Gau
High mobility group AT-hook 2 (HMGA2) is an architectural transcriptional factor that is negatively regulated by Let-7 microRNA through binding to its 3-untranslated region (3-UTR). Transgenic mice expressing HMGA2 with a truncation of its 3-UTR has been shown to exhibit a myeloproliferative phenotype. To decipher the Let-7-HMGA2 axis in myeloproliferative neoplasms (MPN), we employed an in vitro model supplemented with clinical correlation. Ba/F3 cells with inducible JAK2V617F expression (Ton.JAK2.V617F cells) showed up-regulation of HMGA2 with concurrent let-7a repression...
January 5, 2017: Haematologica
https://www.readbyqxmd.com/read/28041861/macular-hemorrhages-associated-with-neonatal-polycythemia-and-thrombocytopenia-a-case-report
#7
Z Cui, Y Zhang, L Liang, Z Li, Q Hao
BACKGROUND: Thrombocytopenia occurs in 51% of neonates with polycythemia and is independently associated with growth restriction. Increased hematocrit is associated with decreased platelet count. The possibility of a hemorrhage should be noted. CASE DESCRIPTION: A Chinese male newborn presented with elevated hemoglobin and hematocrit levels. The platelet count decreased to 10×10(9)/L during the 1st week after birth and remained abnormal at day 12. Vitreous turbidity of the right eye was detected 2 days later and was suspected of stemming from endophthalmitis or ocular inflammation...
December 29, 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28038774/cerebral-venous-thrombosis-at-high-altitude-a-systematic-review
#8
REVIEW
C Zavanone, M Panebianco, M Yger, A Borden, D Restivo, C Angelini, A Pavone, G Grimod, C Rosso, S Dupont
BACKGROUND AND OBJECTIVE: High altitude may be a factor associated with cerebral venous thrombosis (CVT). As our knowledge of CVT at high altitude is limited, it was decided to pool such information from the available case studies to determine whether high altitude can predispose to CVT. METHODS: A systematic review of the literature was performed for cases reporting CVT at high altitude. Searches of the PubMed database (up to July 2016) were performed for publications, using 'cerebral venous thrombosis' and 'high altitude' as keywords...
December 27, 2016: Revue Neurologique
https://www.readbyqxmd.com/read/28031530/a-novel-assay-to-detect-calreticulin-mutations-in-myeloproliferative-neoplasms
#9
Valentina Rosso, Jessica Petiti, Enrico Bracco, Roberto Pedrola, Francesca Carnuccio, Elisabetta Signorino, Sonia Carturan, Chiara Calabrese, Giada Bot-Sartor, Michela Ronconi, Anna Serra, Giuseppe Saglio, Francesco Frassoni, Daniela Cilloni
The myeloproliferative neoplasms are chronic myeloid cancers divided in Philadelphia positive (Ph+), chronic myeloid leukemia, or negative: polycythemia vera (PV) essential thrombocythemia (ET), and primary myelofibrosis (PMF). Most Ph negative cases have an activating JAK2 or MPL mutation. Recently, somatic mutations in the calreticulin gene (CALR) were detected in 56-88% of JAK2/MPL-negative patients affected by ET or PMF. The most frequent mutations in CARL gene are type-1 and 2. Currently, CALR mutations are evaluated by sanger sequencing...
December 23, 2016: Oncotarget
https://www.readbyqxmd.com/read/28028559/real-world-epidemiology-of-myeloproliferative-neoplasms-a-population-based-study-in-korea-2004-2013
#10
Ja Min Byun, Young Jin Kim, Taemi Youk, John Jeongseok Yang, Jongha Yoo, Tae Sung Park
Myeloproliferative neoplasms (MPNs), with an expected increment in number, impose substantial economic and social burdens. To this end, we conducted a nationwide population-based descriptive epidemiology study. We also investigated medical cost associated with MPNs. Prevalence was the highest for essential thrombocythemia (ET) (range 4.1-9.0 per 100,000), followed by polycythemia vera (PV) (range 2.8-5.4 per 100,000) and primary myelofibrosis (PMF) (range 0.5-0.9 per 100,000). ET incurred the highest cumulative total cost at US$35 million and the most frequent hospital visits, while PMF incurred the highest average cost per person at US$5000...
December 27, 2016: Annals of Hematology
https://www.readbyqxmd.com/read/28028029/genetic-basis-and-molecular-pathophysiology-of-classical-myeloproliferative-neoplasms
#11
William Vainchenker, Robert Kralovics
The genetic landscape of classical myeloproliferative neoplasm (MPN) is in large part elucidated. The MPN restricted driver mutations including those in JAK2, calreticulin (CALR) and MPL abnormally activate the cytokine receptor/JAK2 pathway and their downstream effectors, more particularly the STATs. The most frequent mutation, JAK2V617F, activates the three main myeloid cytokine receptors (EPOR, G-CSFR and MPL) whereas CALR or MPL mutants are restricted to MPL activation. This explains why JAK2V617F is associated with polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) whereas CALR and MPL mutants are found in ET and PMF...
December 27, 2016: Blood
https://www.readbyqxmd.com/read/28028027/emerging-treatments-for-classical-myeloproliferative-neoplasms
#12
Alessandro M Vannucchi, Claire Harrison
There has been a major revolution in the management of patients with myeloproliferative neoplasms (MPN), in particular those with myelofibrosis and extensive splenomegaly and symptomatic burden, following the introduction of the JAK1 and JAK2 inhibitor ruxolitinib. The drug has been later approved also as second line therapy for polycythemia vera (PV). However, the therapeutic armamentarium for MPN is still largely inadequate to cope with the major unmet patients' needs, that include normalization of life span (MF and some PV patients), reduction of cardiovascular complications (mainly PV and essential thrombocythemia (ET)), prevention of hematological progression and improved quality of life (all MPN)...
December 27, 2016: Blood
https://www.readbyqxmd.com/read/28028026/diagnosis-risk-stratification-and-response-evaluation-in-classical-myeloproliferative-neoplasms
#13
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/28028024/ace-inhibitors-and-cytoreductive-therapy-in-polycythemia-vera
#14
Tiziano Barbui, Arianna Masciulli, Arianna Ghirardi, Alessandra Carobbio
No abstract text is available yet for this article.
December 27, 2016: Blood
https://www.readbyqxmd.com/read/28027559/the-contribution-of-hereditary-thrombophilia-to-increasing-the-frequency-of-thrombosis-in-patients-with-ph-negative-myeloproliferative-neoplasms-including-the-victims-from-the-chornobyl-accident
#15
O Y Mishcheniuk, V M Shkarupa, O M Kostukevich, L V Neumerzhitcka, S M Kravchenko, S V Klymenko
OBJECTIVE: The definition of a contribution of the carriage of the G1691A allele of thecoagulation factor V gene and the G20210A allele of the coagulation factor II gene in the development of thrombosis in Ph negative myeloprolifer ative neoplasms (MPN) patients, who were irradiated in the dose range 0,001 0,99 Gy and who were not. MATERIALS AND METHODS: The clinical and molecular genetic characteristics of patients with radiation associated and spontaneous polycythemia vera (PV), essential trombotsytemiya (ET) and primary myelofibrosis (PMF) were ana lyzed...
December 2016: Problemy Radiat︠s︡iĭnoï Medyt︠s︡yny Ta Radiobiolohiï
https://www.readbyqxmd.com/read/28025866/proliferative-characteristics-of-philadelphia-negative-myeloproliferative-neoplasms-clinical-implications
#16
D Šefer, S Bižić-Radulović, N Kraguljac-Kurtović, A Bogdanović, V Čokić, P Miljić, B Beleslin-Čokić, V Knežević, O Mitrović-Ajtić, D Leković, M Gotić
INTRODUCTION: Philadelphia-negative myeloproliferative neoplasms (Ph(-) MPN) are characterized by overproduction of one or more blood cell lines. METHODS: We studied the proliferative characteristics of 91 patients with de novo Ph(-) MPN. Colony-forming cells (CFC) and endogenous colonies (EC), from bone marrow (BM) and/or peripheral blood (PB), were analyzed by colony assay based on methylcellulose. The level of circulating CD34(+) cells was determined by flow cytometry...
December 26, 2016: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28010748/psychological-manifestations-of-early-childhood-adversity-in-the-context-of-chronic-hematologic-malignancy
#17
Daniel C McFarland, Megan Johnson Shen, Heather Polizzi, John Mascarenhas, Marina Kremyanskaya, Jimmie Holland, Ronald Hoffman
BACKGROUND: Myeloproliferative neoplasms (MPNs), a group of chronic hematologic malignancies, carry significant physical and psychological symptom burdens that significantly affect patients' quality of life. OBJECTIVES: We sought to identify the relationship between early childhood adversity (ECA) and psychological distress in patients with MPNs, as ECA may compound symptom burden. METHODS: Patients with MPNs were assessed for ECA (i.e., the Risky Families Questionnaire-subscales include abuse/neglect/chaotic home environment), distress (i...
January 2017: Psychosomatics
https://www.readbyqxmd.com/read/28005140/-abdominal-pain-and-hypertension-in-a-55-year-old-male-patient
#18
T Kofler, F Yueksel, S Dirnhofer, M Y Donath, M Trendelenburg
A 55-year-old male patient under permanent testosterone therapy for hypogonadism presented with abdominal pain and increased blood pressure values. In the physical examination a plethora was noted and laboratory examinations revealed polyglobulia. In the subsequent diagnostic process polycythemia vera and cancer could be excluded as the cause. A secondary polyglobulia due to testosterone substitution was diagnosed. Unphysiologically high testosterone levels represent a rare cause of secondary polyglobulia and with an appropriate medical history should be taken into account at an early stage...
December 22, 2016: Der Internist
https://www.readbyqxmd.com/read/28000848/transcriptome-reveals-the-overexpression-of-a-kallikrein-gene-cluster-klk1-3-7-8-12-in-the-tibetans-with-high-altitude-associated-polycythemia
#19
Kang Li, Luobu Gesang, Zeng Dan, Lamu Gusang
High altitude-associated polycythemia (HAPC) is a very common disease. However, it the disease is still unmanageable and the related molecular mechanisms remain largely unclear. In the present study, we aimed to explore the molecular mechanisms responsible for the development of HAPC using transcriptome analysis. Transcriptome analysis was conducted in 3 pairs of gastric mucosa tissues from patients with HAPC and healthy residents at a similar altitude. Endoscopy and histopathological analyses were used to examine the injury to gastric tissues...
February 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/27997717/sequential-analysis-of-18-genes-in-polycythemia-vera-and-essential-thrombocythemia-reveals-an-association-between-mutational-status-and-clinical-outcome
#20
Damien Luque Paz, Aurélie Chauveau, Françoise Boyer, Caroline Buors, Laura Samaison, Laurane Cottin, Valérie Seegers, Claude Férec, Cédric Le Maréchal, Paul Gueguen, Eric Lippert, Jean-Christophe Ianotto, Valérie Ugo
Philadelphia-negative classical myeloproliferative neoplasms (MPN) are clonal diseases characterized by driver mutations of JAK2, MPL, or CALR. Additional mutations may occur in epigenetic regulators, signaling, or splicing genes that may be useful in the prognostic assessment of MPN patients. In primary myelofibrosis, molecular-based prognostic scoring systems have been recently proposed, but few data are available to date for polycythemia vera (PV) and essential thrombocythemia (ET). In this study, we used a next generation sequencing-based 18-gene panel in 50 JAK2V617F positive PV and JAK2V617F positive ET patients from an institutional cohort investigated at diagnosis and at 3-year follow-up (3y)...
December 20, 2016: Genes, Chromosomes & Cancer
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