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https://www.readbyqxmd.com/read/28231563/hypoxia-pathway-mutations-in-pheochromocytomas-and-paragangliomas
#1
Diana Amorim-Pires, Joana Peixoto, Jorge Lima
Pheochromocytomas (PCC) and sympathetic paragangliomas (PGL) are rare neuroendocrine tumors, which derive from chromaffin cells occurring in the adrenal medulla and extra-adrenal sympathetic paraganglia. PCC and PGL are often benign, catecholamine-producing tumors, responsible for a myriad of symptoms that may be potentially hazardous to the patient. In contrast, nonsecreting parasympathetic PGL, derived from chief cells, develop mainly in the head and neck region. Although PCC/PGL are more commonly sporadic tumors, germline mutations are present in up to 40% of the patients, ranking these tumors among those with the highest degree of heritability...
February 24, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28228104/driver-mutations-jak2v617f-mplw515l-k-or-calr-pentraxin-3-and-c-reactive-protein-in-essential-thrombocythemia-and-polycythemia-vera
#2
Federico Lussana, Alessandra Carobbio, Silvia Salmoiraghi, Paola Guglielmelli, Alessandro Maria Vannucchi, Barbara Bottazzi, Roberto Leone, Alberto Mantovani, Tiziano Barbui, Alessandro Rambaldi
BACKGROUND: The driver mutations JAK2V617F, MPLW515L/K and CALR influence disease phenotype of myeloproliferative neoplasms (MPNs) and might sustain a condition of chronic inflammation. Pentraxin 3 (PTX3) and high-sensitivity C-reactive protein (hs-CRP) are inflammatory biomarkers potentially useful for refining prognostic classification of MPNs. METHODS: We evaluated 305 with essential thrombocythemia (ET) and 172 polycythemia vera (PV) patients diagnosed according to the 2016 WHO criteria and with full molecular characterization for driver mutations...
February 22, 2017: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/28216719/diagnosis-and-management-of-chronic-pruritus-an-expert-consensus-review
#3
REVIEW
Murlidhar Rajagopalan, Abir Saraswat, Kiran Godse, D S Krupa Shankar, Sanjiv Kandhari, Shrutakirthi D Shenoi, Sushil Tahiliani, V Vijay Zawar
The aim of this study is to formulate the best clinical practice in the diagnosis and management of chronic pruritus (CP). We searched PubMed, EMBASE, Scopus, Web of Science, and the WHO's regional databases, for studies on "Diagnosis and management of chronic pruritus" from January 1, 2014, to July 31, 2015. We included programmatic reports and hand-searched references of published reviews and articles. Two independent reviewers screened articles and extracted data. We screened 87 of 95 studies that contained qualitative data...
January 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28196400/diagnostic-impact-of-the-2016-revised-who-criteria-for-polycythemia-vera
#4
Tiziano Barbui, Juergen Thiele, Heinz Gisslinger, Alessandra Carobbio, Alessandro M Vannucchi, Ayalew Tefferi
No abstract text is available yet for this article.
February 14, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28193568/markers-of-iron-deficiency-in-patients-with-polycythemia-vera-receiving-ruxolitinib-or-best-available-therapy
#5
Srdan Verstovsek, Claire N Harrison, Jean-Jacques Kiladjian, Carole Miller, Ahmad B Naim, Dilan C Paranagama, Dany Habr, Alessandro M Vannucchi
Polycythemia vera (PV) is characterized by erythropoiesis and JAK2-activating mutations, with increased risks of morbidity and mortality. Most patients with PV are iron deficient, and treatment often includes hematocrit control with phlebotomy, which may exacerbate iron deficiency-associated complications. The phase 3 RESPONSE trial evaluated the JAK1/JAK2 inhibitor ruxolitinib (n=110) versus best available therapy (BAT; n=112) in patients with PV who were hydroxyurea-resistant/intolerant. Ruxolitinib was superior to BAT for hematocrit control, reduction in splenomegaly, and blood count normalization...
January 31, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28168815/descriptive-study-of-the-complete-blood-count-in-newborn-infants-with-down-syndrome
#6
Francisco Javier Martínez-Macías, Lucina Bobadilla-Morales, Janet González-Cruz, Moisés Quiles-Corona, Alfredo Corona-Rivera, Christian Peña-Padilla, Mireya Orozco-Vela, Rocío Silva-Cruz, Fernando Velarde-Rivera, Jorge Román Corona-Rivera
The usefulness of the complete blood count (CBC) during the first week of life in infants with Down syndrome (DS) has been recognized; however, studies are limited and have evaluated only some of the parameters of the CBC. Here, we report a prospective study of 135 infants with cytogenetically confirmed DS and a reference group of 226 infants without birth defects all born during the period 2009-2015 at the Dr. Juan I. Menchaca Civil Hospital of Guadalajara (Guadalajara, Mexico). The goal was to evaluate hematological findings in the CBC during the first 7 days of life, interpreted according to gestational and postnatal age...
February 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28164603/study-on-the-clinical-significance-of-jak2v617f-allele-burden-in-philadelphia-chromosome-negative-myeloproliferative-neoplasm
#7
Peisong Chen, Juan Ouyang, Jianming Liang, Xuegao Yu, Bin Huang
BACKGROUND: It was discovered that the somatic mutation in JAK2 exon 14 (JAK2V617F) totally modified the understanding and diagnosis of Philadelphia-Negative myeloproliferative neoplasm (Ph-MPNs), including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Real-time quantitative PCR is the most widely used method for JAK2V617F detection in clinical laboratory. In this study, we aimed to evaluate the clinical significance of JAK2V617F allele burden in Ph-MPNs detected by real-time quantitative PCR...
August 1, 2016: Clinical Laboratory
https://www.readbyqxmd.com/read/28150363/blood-donation-and-testosterone-replacement-therapy
#8
Benjamin Chin-Yee, Alejandro Lazo-Langner, Terrie Butler-Foster, Cyrus Hsia, Ian Chin-Yee
BACKGROUND: Polycythemia is the most common adverse effect of testosterone replacement therapy (TRT) and may predispose patients to adverse vascular events. Current Canadian guidelines recommend regular laboratory monitoring and discontinuing TRT or reducing the dose if the hematocrit exceeds 54% (hemoglobin ≥180 g/L). This threshold has been interpreted by some physicians and patients to indicate the need for phlebotomy or blood donation while on TRT. STUDY DESIGN AND METHODS: We reviewed all male blood donors in Southwestern Ontario at Canadian Blood Services from December 2013 to March 2016 who self-identified or were found on donor screening to be on TRT...
February 1, 2017: Transfusion
https://www.readbyqxmd.com/read/28145534/thrombin-generation-a-potentially-useful-biomarker-of-thrombotic-risk-in-philadelphia-negative-myeloproliferative-neoplasms
#9
Romeo-Gabriel Mihaila
The diagnosis of essential thrombocythemia and polycythemia vera is often made during a thrombotic event which can be serious. Philadelphia-negative chronic myeloproliferative neoplasia patients have an increased thrombotic risk. This is assessed using various scoring systems but these are far from ideal and individual risk. The currend trend to personalised medicine requires finding the most useful thrombotic risk biomarker in these patients. Routine tests for coagulation do not take account of both pro- and anti-coagulant factors which is why these tests are not useful in patients with Philadelphia-negative myeloproliferative neoplasms...
January 6, 2017: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/28133558/myelopathy-due-to-spinal-extramedullary-hematopoiesis-in-a-patient-with-polycythemia-vera
#10
Shuhei Ito, Nobuyuki Fujita, Naobumi Hosogane, Narihito Nagoshi, Mitsuru Yagi, Akio Iwanami, Kota Watanabe, Takashi Tsuji, Masaya Nakamura, Morio Matsumoto, Ken Ishii
Extramedullary hematopoiesis (EMH) occasionally occurs in patients exhibiting hematological disorders with decreased hematopoietic efficacy. EMH is rarely observed in the spinal epidural space and patients are usually asymptomatic. In particular, in the patients with polycythemia vera, spinal cord compression due to EMH is extremely rare. We report a case of polycythemia vera, in which operative therapy proved to be an effective treatment for myelopathy caused by spinal EMH.
2017: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/28128288/the-spleen-microenvironment-influences-disease-transformation-in-a-mouse-model-of-kit-d816v-dependent-myeloproliferative-neoplasm
#11
Natalie Pelusi, Maike Kosanke, Tamara Riedt, Corinna Rösseler, Kristin Seré, Jin Li, Ines Gütgemann, Martin Zenke, Viktor Janzen, Hubert Schorle
Activating mutations leading to ligand-independent signaling of the stem cell factor receptor KIT are associated with several hematopoietic malignancies. One of the most common alterations is the D816V mutation. In this study, we characterized mice, which conditionally express the humanized KIT(D816V) receptor in the adult hematopoietic system to determine the pathological consequences of unrestrained KIT signaling during blood cell development. We found that KIT(D816V) mutant animals acquired a myeloproliferative neoplasm similar to polycythemia vera, marked by a massive increase in red blood cells and severe splenomegaly caused by excessive extramedullary erythropoiesis...
January 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28127528/persistent-prevalence-of-polycythemia-among-evacuees-4%C3%A2-years-after-the-great-east-japan-earthquake-a-follow-up-study
#12
Akira Sakai, Hironori Nakano, Tetsuya Ohira, Mitsuaki Hosoya, Seiji Yasumura, Akira Ohtsuru, Hiroaki Satoh, Yukihiko Kawasaki, Hitoshi Suzuki, Atsushi Takahashi, Yoshihiro Sugiura, Hiroaki Shishido, Yoshimitsu Hayashi, Hideto Takahashi, Gen Kobashi, Kotaro Ozasa, Shigeatsu Hashimoto, Hitoshi Ohto, Masafumi Abe
We previously reported that the lifestyle of evacuees significantly increased the prevalence of polycythemia compared with non-evacuees at an average of 1.6 years (2011-2012) from the previous annual health checkup before the Great East Japan Earthquake (GEJE). Here we analyzed how the prolonged evacuation affected the prevalence of polycythemia an average of 2.5 years (2013-2014) after the previous data. Subjects were individuals aged 40-90 years living in the vicinity of the Fukushima Daiichi Nuclear Power Plant in Fukushima Prefecture who had attended the annual health checkups since 2008...
March 2017: Preventive Medicine Reports
https://www.readbyqxmd.com/read/28126623/the-jak2v617f-mutation-in-normal-individuals-takes-place-in-differentiating-cells
#13
Svetlana Krichevsky, Eugenia Prus, Riki Perlman, Eitan Fibach, Dina Ben-Yehuda
The JAK2V617F mutation that results in a hyper-activation of the JAK2 kinase in the erythropoietin pathway is a molecular marker for myeloproliferative neoplasms. Using allele-specific Real-Time PCR, we detected the mutation in the blood of 17.3% (17/98) of normal donors; the mutant allele burden was, however, very low (<0.01% compared to >1% in polycythemia vera). It was much higher in differentiated blood cells in the peripheral blood than in undifferentiated CD34(+) cells. Erythropoietin-stimulated differentiation of normal CD34(+) cells in liquid culture increased the mutation frequency by 3...
January 7, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28116635/a-somatic-hif2%C3%AE-mutation-induced-multiple-and-recurrent-pheochromocytoma-paraganglioma-with-polycythemia-clinical-study-with-literature-review
#14
Qiuli Liu, Yan Wang, Dali Tong, Gaolei Liu, Wenqiang Yuan, Jun Zhang, Jin Ye, Yao Zhang, Gang Yuan, Qingxing Feng, Dianzheng Zhang, Jun Jiang
A syndrome known as pheochromocytomas (PCC)/paragangliomas (PGL) and polycythemia resulted from gain-of-function mutation of hypoxia-inducible factor 2α (HIF2α) has been reported recently. However, clinical features of this syndrome vary from patient to patient. In our study, we described the clinical features of the patient within 15-year follow-up with a literature review. The patient presented with "red face" since childhood and was diagnosed with polycythemia and pheochromocytoma in 2000, and then, tumor was removed at his age of 27 (year 2000)...
January 23, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28113109/pegylated-interferon-alpha-2a-is-clinically-effective-and-tolerable-in-myeloproliferative-neoplasm-patients-treated-off-clinical-trial
#15
K Gowin, T Jain, H Kosiorek, R Tibes, J Camoriano, J Palmer, R Mesa
Polycythemia vera, essential thrombocytosis, and myelofibrosis are chronic Philadelphia-negative myeloproliferative neoplasms that are characterized by clonal hematopoiesis, splenomegaly, risk of hemorrhagic and thrombotic sequelae, and profound symptom burden. We review the outcomes of 75 myeloproliferative neoplasm patients treated with pegylated interferon alpha 2a off study at an academic medical center. In the 56 treated polycythemia vera and essential thrombocytosis patients, a complete or partial response was obtained in 78...
January 5, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28107068/successful-treatment-of-suspected-pulmonary-arterial-hypertension-in-a-mealy-amazon-parrot-amazona-farinose
#16
Sean M Brady, Anne Burgdorf-Moisuk, Sarah Silverman, Raymund F Wack
A 25-year-old, male mealy Amazon parrot (Amazona farinose) with a history of polycythemia, hepatomegaly, and epistaxis was evaluated for progressive lethargy and anorexia. Clinical laboratory testing revealed severe polycythemia (71%), hypophosphatemia (1.6 mg/dL), and mild hypokalemia (2.8 mEq/L). Radiographs showed marked hepatomegaly and loss of air sac space. Despite supportive treatments, the bird's condition deteriorated, and it developed ataxia, was unable to fly, and became oxygen dependent. An echocardiogram, including an air bubble study, revealed a right-to-left atrial shunt and presumed pulmonary arterial hypertension...
December 2016: Journal of Avian Medicine and Surgery
https://www.readbyqxmd.com/read/28104701/prospective-study-of-thrombosis-and-thrombospondin-1-expression-in-chuvash-polycythemia
#17
Adelina Sergueeva, Galina Miasnikova, Binal N Shah, Jihyun Song, Ekaterina Lisina, Daniel J Okhotin, Mehdi Nouraie, Sergei Nekhai, Tatiana Ammosova, Xiao Mei Niu, Josef T Prchal, Xu Zhang, Victor R Gordeuk
No abstract text is available yet for this article.
January 19, 2017: Haematologica
https://www.readbyqxmd.com/read/28096303/down-regulation-of-epas1-transcription-and-genetic-adaptation-of-tibetans-to-high-altitude-hypoxia
#18
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
#19
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
#20
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
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