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https://www.readbyqxmd.com/read/29131894/evaluation-of-polycythemia-a-teachable-moment
#1
Mia Djulbegovic, Lydia S Dugdale, Alfred Ian Lee
No abstract text is available yet for this article.
November 13, 2017: JAMA Internal Medicine
https://www.readbyqxmd.com/read/29130390/investigation-of-the-differences-between-the-tibetan-and-han-populations-in-the-hemoglobin-oxygen-affinity-of-red-blood-cells-and-in-the-adaptation-to-high-altitude-environments
#2
Cuiying Li, Xiaowei Li, Juan Liu, Xiu Fan, Guoxing You, Lian Zhao, Hong Zhou, Jingqi Li, Huifen Lei
OBJECTIVE: High altitude is characterized by low oxygen pressure, resulting in multiple adaptive responses. Tibetans who have lived in the plateau for thousands of years have developed unique phenotypes, such as downregulation of the HIF pathway through EPAS1 and EGLN1 gene mutation. However, the changes of hemoglobin-oxygen affinity under hypoxia environment remain elusive. METHODS: A blood cell analyzer and a blood oxygen analyzer were used to conduct routine blood tests and measure the oxygen affinity P50 in in the Han population that rapidly entered the plateau (for 3-7 days), the plateau-acclimatized Han population (residing for 30 days on the plateau), the plateau Han population (more than 10 years on the plateau), and the Tibetan population...
November 12, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29128551/transplant-decisions-in-patients-with-myelofibrosis-should-mutations-be-the-judge
#3
REVIEW
Rachel B Salit, H Joachim Deeg
The prognosis of myeloproliferative neoplasms (MPN), including primary myelofibrosis (PMF), polycythemia vera (PV; post-PV MF) and essential thrombocythemia (ET; post-EMF) varies considerably, between these disorders as well as within each diagnosis. Molecular studies have identified "driver mutations", in JAK2, MPL1 and CALR, and additional somatic DNA mutations, including ASXL1, EZH2, IDH1/2 and SRSF2, that affect prognosis differentially. Patients with mutations in CALR (type1) have a better outlook than patients with mutations in JAK2 or MPL, while patients without any of the driver mutations (triple negative) have the shortest life expectancy...
November 8, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29122542/twin-twin-transfusion-syndrome-what-we-have-learned-from-clinical-trials
#4
REVIEW
Fatiha Djaafri, Julien Stirnemann, Imen Mediouni, Claire Colmant, Yves Ville
Monochorionic twin pregnancies are at increased risk for adverse outcome compared to dichorionic twin pregnancies and singletons. Monochorionic-specific complications include twin-twin transfusion syndrome (TTTS), twin anemia-polycythemia sequence, single intrauterine fetal demise and its consequences on the co-twin, and selective intrauterine growth restriction. Whereas the natural history of monochorionic-specific complications carries a high risk of fetal death or severe neurologic disability, a framework now exists, based on well-designed clinical trials, for optimal treatment of these entities...
November 6, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29121538/therapeutic-options-for-leukemic-transformation-in-patients-with-myeloproliferative-neoplasms
#5
REVIEW
Maliha Khan, Rabbia Siddiqi, Naseema Gangat
Approximately 5-10% of patients with Philadelphia chromosome negative myeloproliferative neoplasms (MPN) comprising of essential thrombocythemia, polycythemia vera and primary myelofibrosis) experience transformation to acute myeloid leukemia (AML, ≥20% blasts). Treatment options for post-MPN AML patients are limited, as conventional approaches like standard chemotherapy, fail to offer long-term benefit. Median survival for secondary AML is ∼2.4 months. Post-MPN AML therefore represents an area of urgent clinical need...
October 27, 2017: Leukemia Research
https://www.readbyqxmd.com/read/29118187/jnk2-upregulates-hypoxia-inducible-factors-and-contributes-to-hypoxia-induced-erythropoiesis-and-pulmonary-hypertension
#6
Marc A Sala, Cong Chen, Qiao Zhang, Hanh Chi Do-Umehara, Wenjiao Wu, Alexander V Misharin, Gregory B Waypa, Deyu Fang, G R Scott Budinger, Shuwen Liu, Navdeep S Chandel, Paul T Schumacker, Jacob I Sznajder, Jing Liu
The hypoxic response is a stress response triggered by low-oxygen tension. Hypoxia-inducible factors (HIFs) play a prominent role in the pathobiology of hypoxia-associated conditions, including pulmonary hypertension (PH) and polycythemia. The c-Jun N-terminal protein kinase (JNK), a stress-activated protein kinase that consists of two ubiquitously expressed isoforms, JNK1 and JNK2, and a tissue-specific isoform, JNK3, has been shown to be activated by hypoxia. However, the physiological role of JNK1 and JNK2 in the hypoxic response remains elusive...
November 8, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29100304/germline-variations-at-jak2-tert-hbs1l-myb-and-mecom-and-the-risk-of-myeloproliferative-neoplasms-in-taiwanese-population
#7
Yi-Hao Chiang, Yu-Cheng Chang, Huan-Chau Lin, Ling Huang, Chun-Chia Cheng, Wei-Ting Wang, Hung-I Cheng, Nai-Wen Su, Caleb Gon-Shen Chen, Johnson Lin, Yi-Fang Chang, Ming-Chih Chang, Ruey-Kuen Hsieh, Wen-Chien Chou, Ken-Hong Lim, Yuan-Yeh Kuo
Germline variations at JAK2, TERT, HBS1L-MYB and MECOM have been found to associate with myeloproliferative neoplasms (MPNs) in European populations. Whether these germline variations are associated with MPNs in Taiwanese population is obscure. Here we aimed to evaluate the association of five germline variations (JAK2 46/1 haplotype tagged by rs12343867, JAK2 intron 8 rs12339666, TERT rs2736100, HBS1L-MYB rs9376092 and MECOM rs2201862) and the risk of MPNs in Taiwanese population. A total of 178 MPN patients (109 essential thrombocythemia, 54 polycythemia vera and 15 primary myelofibrosis) were enrolled into this study...
September 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/29100088/natural-selection-on-genes-related-to-cardiovascular-health-in-high-altitude-adapted-andeans
#8
Jacob E Crawford, Ricardo Amaru, Jihyun Song, Colleen G Julian, Fernando Racimo, Jade Yu Cheng, Xiuqing Guo, Jie Yao, Bharath Ambale-Venkatesh, João A Lima, Jerome I Rotter, Josef Stehlik, Lorna G Moore, Josef T Prchal, Rasmus Nielsen
The increase in red blood cell mass (polycythemia) due to the reduced oxygen availability (hypoxia) of residence at high altitude or other conditions is generally thought to be beneficial in terms of increasing tissue oxygen supply. However, the extreme polycythemia and accompanying increased mortality due to heart failure in chronic mountain sickness most likely reduces fitness. Tibetan highlanders have adapted to high altitude, possibly in part via the selection of genetic variants associated with reduced polycythemic response to hypoxia...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29097178/delayed-versus-early-umbilical-cord-clamping-for-preterm-infants-a-systematic-review-and-meta-analysis
#9
Michael Fogarty, David A Osborn, Lisa Askie, Anna Lene Seidler, Kylie Hunter, Kei Lui, John Simes, William Tarnow-Mordi
OBJECTIVE: To compare the effects of delayed versus early cord clamping on hospital mortality (primary outcome) and morbidity in preterm infants using Cochrane Collaboration Neonatal Review Group methodology. DATA SOURCES: MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials and Chinese articles, cross-referencing citations, expert informants and trial registries to 31 July 2017. STUDY ELIGIBILITY: RCTs of delayed (≥ 30 seconds) vs early (<30 seconds) clamping in infants born <37 weeks gestation...
October 30, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29094914/testosterone-therapy-review-of-clinical-applications
#10
Ryan C Petering, Nathan A Brooks
Testosterone therapy is increasingly common in the United States, and many of these prescriptions are written by primary care physicians. There is conflicting evidence on the benefit of male testosterone therapy for age-related declines in testosterone. Physicians should not measure testosterone levels unless a patient has signs and symptoms of hypogonadism, such as loss of body hair, sexual dysfunction, hot flashes, or gynecomastia. Depressed mood, fatigue, decreased strength, and a decreased sense of vitality are less specific to male hypogonadism...
October 1, 2017: American Family Physician
https://www.readbyqxmd.com/read/29093977/heterozygous-hemoglobin-sherwood-forest-causing-polycythemia
#11
Vikram M Raghunathan, James N Butera, Diana O Treaba
Hemoglobin (Hb) Sherwood Forest is a rare high-affinity hemoglobin first described in 1977, arising from an Arg to Thr substitution at codon 104 of the beta chain. This hemoglobin variant has been identified in few individuals and has been associated with a compensatory erythrocytosis in the homozygous state. Prior scarce case reports have noted that heterozygotes for this variant are phenotypically normal. Here we present a patient who was evaluated in our hematology clinic for chronic erythrocytosis and was found to be heterozygous for Hb Sherwood Forest...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29090588/decreased-turnover-aspirin-resistance-by-bidaily-aspirin-intake-and-efficient-cytoreduction-in-myeloproliferative-neoplasms
#12
Andréas Perrier-Cornet, Jean-Christophe Ianotto, Fanny Mingant, Maëla Perrot, Eric Lippert, Hubert Galinat
Essential thrombocythemia (ET) and polycythemia vera (PV) are myeloproliferative neoplasms (MPN) with an increased risk of arterial and venous thrombosis. Aspirin is recommended to reduce this risk, but resistance to antiplatelet therapy seems to hamper its efficacy in some patients. We have previously shown that multiple electrode aggregometry (MEA) was a valuable tool to assess aspirin resistance in MPN. In this study, MEA was used to assess the reduction in aspirin resistance after bi-daily (BID) aspirin intake or cytoreduction...
November 1, 2017: Platelets
https://www.readbyqxmd.com/read/29074595/ruxolitinib-vs-best-available-therapy-for-et-intolerant-or-resistant-to-hydroxycarbamide
#13
RANDOMIZED CONTROLLED TRIAL
Claire N Harrison, Adam J Mead, Anesh Panchal, Sonia Fox, Christina Yap, Emmanouela Gbandi, Aimee Houlton, Samah Alimam, Joanne Ewing, Marion Wood, Frederick Chen, Jason Coppell, Nicki Panoskaltsis, Steven Knapper, Sahra Ali, Angela Hamblin, Robyn Scherber, Amylou C Dueck, Nicholas C P Cross, Ruben Mesa, Mary Frances McMullin
Treatments for high-risk essential thrombocythemia (ET) address thrombocytosis, disease-related symptoms, as well as risks of thrombosis, hemorrhage, transformation to myelofibrosis, and leukemia. Patients resistant/intolerant to hydroxycarbamide (HC) have a poor outlook. MAJIC (ISRCTN61925716) is a randomized phase 2 trial of ruxolitinib (JAK1/2 inhibitor) vs best available therapy (BAT) in ET and polycythemia vera patients resistant or intolerant to HC. Here, findings of MAJIC-ET are reported, where the modified intention-to-treat population included 58 and 52 patients randomized to receive ruxolitinib or BAT, respectively...
October 26, 2017: Blood
https://www.readbyqxmd.com/read/29072563/secondary-polycythemia-due-to-pazopanib-in-patients-with-metastatic-renal-cell-carcinoma
#14
Nedal Bukhari, Eric Winquist
No abstract text is available yet for this article.
November 11, 2017: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/29068570/the-role-of-certain-gene-polymorphisms-involved-in-the-apoptotic-pathways-in-polycythemia-vera-and-essential-thrombocytosis
#15
Gurbet Dogru, Ozlem Izci Ay, Mehmet Emin Erdal, Mustafa Ertan Ay, Anıl Tombak, Umit Karakas
BACKGROUND: Polycythemia vera (PV) and essential thrombocytosis (ET) are hematological disorders characterized by excessive production of mature and functional blood cells. These cellular disorders are thought to be associated with impaired apoptosis, which is one of the major cellular death mechanisms in hematopoietic cells. OBJECTIVES: In this study, our objective was to examine the association between potential polymorphisms of the Bcl 2, Bax, Fas and Fas Ligand genes involved in apoptosis and the occurrence of PV and ET...
August 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29066270/aquagenic-pruritus-in-polycythemia-vera-a-cross-sectional-study
#16
Edyta Lelonek, Łukasz Matusiak, Tomasz Wróbel, Jacek C Szepietowski
No abstract text is available yet for this article.
October 21, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29056075/an-updated-review-of-the-jak1-2-inhibitor-ruxolitininb-in-the-philadelphia-negative-myeloproliferative-neoplasms
#17
Natalia Curto-Garcia, Claire N Harrison
Ruxolitinib (Rux), a JAK1/2 inhibitor, has been approved for patients with myelofibrosis and in polycythemia vera with inadequate response/intolerance to hydroxycarbamide. Studies have demonstrated that Rux improves disease-related symptoms and splenomegaly. A late emerging observation from two Phase III trials was that Rux was associated with survival advantage in comparison with placebo or other available therapies in myelofibrosis. Important data suggest that for polycythemia vera Rux improved control of blood counts...
October 23, 2017: Future Oncology
https://www.readbyqxmd.com/read/29051279/expansion-of-epor-negative-macrophages-besides-erythroblasts-by-elevated-epor-signaling-in-erythrocytosis-mouse-models
#18
Jieyu Wang, Yoshihiro Hayashi, Asumi Yokota, Zefeng Xu, Yue Zhang, Rui Huang, Xiaomei Yan, Hongyun Liu, Liping Ma, Mohammad Azam, James P Bridges, Jose A Cancelas, Theodosia A Kalfa, Xiuli An, Zhijian Xiao, Gang Huang
Activated EPO receptor (EPOR) signaling causes erythrocytosis. The important role of macrophages for the erythroid expansion and differentiation process has been reported, both in baseline and stress erythropoiesis. However, the significance of EPOR signaling for regulation of macrophages contributing to erythropoiesis has not been fully understood. Here we show that EPOR signaling activation quickly expands both erythrocytes and macrophages in vivo in mouse models of primary and secondary erythrocytosis. To mimic the chimeric condition and expansion of the disease clone in the polycythemia vera patients, we combined Cre-inducible Jak2V617F/+ allele with LysM-Cre allele which expresses in mature myeloid cells and some of the HSC/Ps (LysM-Cre;Jak2V617F/+ mice)...
October 19, 2017: Haematologica
https://www.readbyqxmd.com/read/29047144/mecom-hbs1l-myb-thrb-rarb-jak2-and-tert-polymorphisms-defining-the-genetic-predisposition-to-myeloproliferative-neoplasms-a-study-on-939-patients
#19
Adrian P Trifa, Claudia Bănescu, Anca S Bojan, Cristian M Voina, Ștefana Popa, Simona Vișan, Alina D Ciubean, Florin Tripon, Delia Dima, Viola M Popov, Ștefan C Vesa, Mihaela Andreescu, Tünde Török-Vistai, Romeo G Mihăilă, Nicoleta Berbec, Ioan Macarie, Andrei Coliță, Maria Iordache, Alina C Cătană, Marius F Farcaș, Ciprian Tomuleasa, Kinga Vasile, Cristina Truică, Adriana Todincă, Lavinia Pop-Muntean, Raluca Manolache, Horia Bumbea, Ana-Maria Vlădăreanu, Mihaela Gaman, Cristina M Ciufu, Radu A Popp
Polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are classical myeloproliferative neoplasms (MPN), characterized by specific somatic mutations in JAK2, CALR or MPL genes. JAK2 46/1 and TERT rs2736100 polymorphisms are known to significantly predispose to MPN. This study aimed to establish the additional contribution of the recently described MECOM rs2201862, HBS1L-MYB rs9376092 and THRB-RARB rs4858647 polymorphisms to the occurrence of MPN. These three polymorphisms, along with JAK2 46/1 and TERT rs2736100 were genotyped in 939 MPN patients (454 with ET, 337 with PV and 148 with PMF) and 483 controls...
October 19, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/29042979/mechanism-of-apoptosis-involved-in-gastric-mucosal-lesions-in-tibetans-with-high-altitude-polycythemia
#20
Kang Li, Luobu Gesang, Chaohui He
The Tibetan high plateau is a low-oxygen environment, which may cause the pathogenesis of high-altitude polycythemia (HAPC). Gastric mucosal lesions (GML) are a common complication of HAPC. The molecular mechanisms involved in HAPC-induced GML have remained to be fully elucidated and were therefore investigated in the present study. Gastric tissues of patients with heavy, HAPC-induced GML and healthy controls were assessed by ultrastructural and histopathological analysis. In addition, terminal deoxynucleotidyl transferase-mediated deoxyuridine triphosphate nick-end labeling and reverse transcription-quantitative polymerase chain reaction (RT-qPCR) analysis were used to detect cell apoptosis in the gastric mucosa tissues...
October 2017: Experimental and Therapeutic Medicine
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