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Erythrocytosis

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https://www.readbyqxmd.com/read/29782186/excessive-erythrocytosis-and-cardiovascular-risk-in-andean-highlanders
#1
Noemí Corante, Cecilia Anza-Ramírez, Rómulo Figueroa-Mujíca, José Luis Macarlupú, Gustavo Vizcardo-Galindo, Grzegorz Bilo, Gianfranco Parati, Jorge L Gamboa, Fabiola León-Velarde, Francisco C Villafuerte
Cardiovascular diseases are the main cause of death worldwide. Life under high-altitude (HA) hypoxic conditions is believed to provide highlanders with a natural protection against cardiovascular and metabolic diseases compared with sea-level inhabitants. However, some HA dwellers become intolerant to chronic hypoxia and develop a progressive incapacitating syndrome known as chronic mountain sickness (CMS), characterized by excessive erythrocytosis (EE; Hb ≥21 g/dL in men, Hb ≥19 g/dL in women). Evidence from HA studies suggests that, in addition to CMS typical signs and symptoms, these highlanders may also suffer from metabolic and cardiovascular disorders...
May 21, 2018: High Altitude Medicine & Biology
https://www.readbyqxmd.com/read/29741264/genetic-basis-of-congenital-erythrocytosis
#2
REVIEW
C Bento
INTRODUCTION: Congenital Erythrocytosis (CE) represents a rare and heterogeneous clinical entity. It is caused by deregulated erythropoiesis where red blood cell overproduction results in elevated hemoglobin and hematocrit levels. CE may either be primary or secondary to elevated erythropoietin concentrations. The only known form of primary CE is caused by mutations in the EPOR gene. Secondary CE can be a consequence of tissue hypoxia, being caused by congenital defects such as hemoglobin variants with increased oxygen affinity, due to mutations in the α- or β-globin genes (HBB, HBA2, HBA1), or due to mutations in the BPGM gene...
May 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29682367/myelodysplastic-syndrome-acute-myeloid-leukemia-arising-in-idiopathic-erythrocytosis
#3
Stephen E Langabeer, Eibhlin Conneally, Catherine M Flynn
The term "idiopathic erythrocytosis (IE)" is applied to those cases where a causal clinical or pathological event cannot be elucidated and likely reflects a spectrum of underlying medical and molecular abnormalities. The clinical course of a patient with IE is described manifesting as a persistent erythrocytosis with a low serum erythropoietin level, mild eosinophilia, and with evidence of a thrombotic event. The patient subsequently developed a myelodysplasic syndrome (MDS) and acute myeloid leukemia (AML), an event not observed in erythrocytosis patients other than those with polycythemia vera (PV)...
2018: Case Reports in Hematology
https://www.readbyqxmd.com/read/29656438/renovascular-hypertension-associated-with-jak2-v617f-positive-myeloproliferative-neoplasms-treated-with-angioplasty-2-cases-and-literature-review
#4
Eikan Mishima, Takehiro Suzuki, Yoichi Takeuchi, Kazumasa Seiji, Noriko Fukuhara, Kei Takase, Hideo Harigae, Takaaki Abe, Sadayoshi Ito
Myeloproliferative neoplasms (MPNs) with Janus kinase 2 (JAK2) mutation are associated with a high risk for occlusive vascular diseases. We report 2 cases of renovascular hypertension associated with JAK2 V617F mutation-positive MPNs and provide a literature review. In Case 1, a 63-year-old woman had resistant hypertension, massive proteinuria, and erythrocytosis. Evaluations revealed right renal artery stenosis causing renovascular hypertension and polycythemia vera with JAK2 V617F mutation. Renin-angiotensin system inhibitors and subsequent angioplasty controlled the blood pressure and the proteinuria resolved...
April 14, 2018: Journal of Clinical Hypertension
https://www.readbyqxmd.com/read/29623657/a-case-of-primary-familial-congenital-polycythemia-with-a-novel-epor-mutation-possible-spontaneous-remission-alleviation-by-menstrual-bleeding
#5
Naohisa Toriumi, Makoto Kaneda, Naoki Hatakeyama, Hiromi Manabe, Kazuki Okajima, Yukari Sakurai, Masayo Yamamoto, Takeo Sarashina, Katsuya Ikuta, Hiroshi Azuma
A 10-year-old girl with persistent erythrocytosis and ruddy complexion was diagnosed with primary familial congenital polycythemia (PFCP) involving a novel heterozygous mutation of c.1220C>A, p.Ser407X in exon 8 of the erythropoietin receptor gene (EPOR). This mutation causes truncation of EPOR, resulting in loss of the cytoplasmic region, which is necessary for negative regulation of erythropoietin signal transmission. Genetic analysis showed that the mutated EPOR was inherited from her mother. Her mother had polycythemia and had undergone venesection several times when she was young, but her polycythemic state appeared to have resolved...
April 5, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29620950/a-systematic-review-and-meta-analysis-reveals-altered-drug-pharmacokinetics-in-humans-during-acute-exposure-to-terrestrial-high-altitude-clinical-justification-for-dose-adjustment
#6
Damian Miles Bailey, Benjamin S Stacey, Mark Gumbleton
OBJECTIVE: While physiological responses during acute ascent to terrestrial high altitude (HA) have the potential to alter the pharmacokinetics (PKs) that define absorption and disposition of medicinal drugs, there have been no systematic reviews and meta-analyses performed to date. METHODS: We conducted a systematic literature search in June 2017 using NCBI PubMed, EMBASE, Web of Science, and Ovid MEDLINE databases to identify relevant observational studies. Studies were deemed eligible based on the following criteria: (1) participants: healthy, nonacclimatized male or female lowlanders (born and bred at sea level) and (2) environment: exposure to low altitude (LA, ≤600 m), followed by terrestrial high altitude (HA, ≤24 hours to ≥2500 m), the time course specifically selected to avoid interpretive complications associated with erythrocytosis...
April 5, 2018: High Altitude Medicine & Biology
https://www.readbyqxmd.com/read/29609162/determining-mean-corpuscular-volume-and-red-blood-cell-count-using-electrochemical-collision-events
#7
Thy L T Ho, Nhung T T Hoang, Jungeun Lee, Jun Hui Park, Byung-Kwon Kim
Blood tests (e.g., red blood cell (RBC) count) are crucial for detecting, diagnosing, and monitoring the progression of blood disorders. Here, we report the development of a new and rapid method for electrochemically detecting RBCs using single-particle collision events. The principle of this method relies on the electrochemical oxidation of an electroactive redox species (potassium ferrocyanide) hindered by an RBC attached to an electrode surface. A decrease in staircase current, caused by the collision of RBCs on the electrode, was observed...
March 26, 2018: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/29562341/the-efficacy-and-adverse-events-of-testosterone-replacement-therapy-in-hypogonadal-men-a-systematic-review-and-meta-analysis-of-randomized-placebo-controlled-trials
#8
Oscar J Ponce, Gabriela Spencer-Bonilla, Neri Alvarez-Villalobos, Valentina Serrano, Naykky Singh-Ospina, Rene Rodriguez-Gutierrez, Alejandro Salcido-Montenegro, Raed Benkhadra, Larry J Prokop, Shalender Bhasin, Juan P Brito
Context: The efficacy and safety of testosterone replacement therapy (TRT) in hypogonadal men remain incompletely understood. Objective: To conduct a systematic review and meta-analysis of randomized clinical trials (RCT) to determine the effects of TRT on patient-important outcomes and adverse events in hypogonadal men. Data Sources: We searched Ovid MEDLINE, Ovid EMBASE, Ovid Cochrane Database of Systematic Reviews, Ovid Cochrane Central Register of Controlled Trials, and Scopus from inception to March 2th, 2017...
March 17, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29516275/polycythemia-vera
#9
REVIEW
Jerry L Spivak
Polycythemia vera (PV) is the most common myeloproliferative neoplasm (MPN), the ultimate phenotype of the JAK2 V1617F mutation, the MPN with the highest incidence of thromboembolic complications, which usually occur early in the course of the disease, and the only MPN in which erythrocytosis occurs. The classical presentation of PV is characterized by erythrocytosis, leukocytosis, and thrombocytosis, often with splenomegaly and occasionally with myelofibrosis, but it can also present as isolated erythrocytosis with or without splenomegaly, isolated thrombocytosis or isolated leukocytosis, or any combination of these...
March 7, 2018: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/29514032/a-gain-of-function-mutation-in-epo-in-familial-erythrocytosis
#10
Jakub Zmajkovic, Pontus Lundberg, Ronny Nienhold, Maria L Torgersen, Anders Sundan, Anders Waage, Radek C Skoda
Familial erythrocytosis with elevated erythropoietin levels is frequently caused by mutations in genes that regulate oxygen-dependent transcription of the gene encoding erythropoietin ( EPO). We identified a mutation in EPO that cosegregated with disease with a logarithm of the odds (LOD) score of 3.3 in a family with autosomal dominant erythrocytosis. This mutation, a single-nucleotide deletion (c.32delG), introduces a frameshift in exon 2 that interrupts translation of the main EPO messenger RNA (mRNA) transcript but initiates excess production of erythropoietin from what is normally a noncoding EPO mRNA transcribed from an alternative promoter located in intron 1...
March 8, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29502563/active-smoking-and-hematocrit-and-fasting-circulating-erythropoietin-concentrations-in-the-general-population
#11
Michele F Eisenga, Lyanne M Kieneker, Daan J Touw, Ilja M Nolte, Peter van der Meer, Gerwin Huls, Carlo A J M Gaillard, Stephan J L Bakker
Cigarette smoking continues to be one of the major risk factors for increased morbidity and mortality worldwide. Among many adverse health effects, smoking can induce erythrocytosis, which is commonly believed to result from elevated serum erythropoietin (EPO) levels. Currently, however, this notion is only alleged, without data available to substantiate it. Hence, we analyzed data from the Prevention of Renal and Vascular End-Stage Disease study, a prospective population-based cohort study. Smoking behavior was quantified as number of cigarettes smoked per day and as 24-hour urinary cotinine excretion levels, an objective and quantitative measure of nicotine exposure...
March 2018: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/29480820/translational-repression-of-hif2%C3%AE-expression-in-mice-with-chuvash-polycythemia-reverses-polycythemia
#12
Manik C Ghosh, De-Liang Zhang, Hayden Ollivierre, Michael A Eckhaus, Tracey A Rouault
Chuvash polycythemia is an inherited disease caused by a homozygous germline VHLR200W mutation, which leads to impaired degradation of HIF2α, elevated levels of serum erythropoietin, and erythrocytosis/polycythemia. This phenotype is recapitulated by a mouse model bearing a homozygous VhlR200W mutation. We previously showed that iron-regulatory protein 1-knockout (Irp1-knockout) mice developed erythrocytosis/polycythemia through translational derepression of Hif2α, suggesting that IRP1 could be a therapeutic target to treat Chuvash polycythemia...
April 2, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29364423/-diagnosis-of-anemia-in-populations-at-high-altitudes
#13
Gustavo F Gonzales, Diego Fano, Cinthya Vásquez-Velásquez
Iron deficiency and overload are risk factors for numerous poor health outcomes, and thus the maintenance of iron homeostasis is vital. Considering that hemoglobin contains 70% of the total iron in the body, the World Health Organization (WHO) recommends the measurement of iron levels to calculate the rate of iron deficiency anemia (IDA), although WHO recognizes that IDA is not the only cause of anemia. As hemoglobin increases with altitude, WHO recommends correcting the cut-off point to define anemia at high altitudes...
October 2017: Revista Peruana de Medicina Experimental y Salud Pública
https://www.readbyqxmd.com/read/29364032/feline-primary-erythrocytosis-a-multicentre-case-series-of-18-cats
#14
Hannah Darcy, Katherine Simpson, Isuru Gajanayake, Mayank Seth, Yvonne McGrotty, Balazs Szladovits, Barbara Glanemann
Case series summary A retrospective multicentre case series of feline primary erythrocytosis (PE) was evaluated. The aim was to gain better understanding of disease presentation and progression to guide management and prognostication. Case records were assessed for evidence of increased packed cell volume (PCV; >48%), sufficient investigation to rule out relative and secondary erythrocytosis, and follow-up data for at least 12 months or until death. Eighteen cats were included in the case series. No significant trends in signalment were noted...
January 1, 2018: Journal of Feline Medicine and Surgery
https://www.readbyqxmd.com/read/29346667/the-results-of-hemoglobin-variant-analysis-in-patients-revealing-microcytic-erythrocytosis-on-complete-blood-count
#15
Upasana Joneja, Gene Gulati, Alina Dulau Florea, Jerald Gong
Background: Microcytic erythrocytosis is an underrecognized and underevaluated complete blood count (CBC) finding. The literature pertaining to the determination of its etiology specifically by hemoglobin variant analysis is limited. Methods: We performed hemoglobin variant analysis by high performance liquid chromatography on 137 patients who revealed microcytic erythrocytosis on CBC, and reviewed the results for the diagnosis of hemoglobin-associated disorders...
March 21, 2018: Laboratory Medicine
https://www.readbyqxmd.com/read/29281614/potential-contribution-of-erythrocyte-microrna-to-secondary-erythrocytosis-and-thrombocytopenia-in-congenital-heart-disease
#16
Nobuhiro Mukai, Yoshinobu Nakayama, Satoshi Murakami, Toshihito Tanahashi, Daniel I Sessler, Sachiyo Ishii, Satoru Ogawa, Natsuko Tokuhira, Toshiki Mizobe, Teiji Sawa, Yasufumi Nakajima
BackgroundChildren with cyanotic heart disease develop secondary erythrocytosis and thrombocytopenia via unknown mechanisms. Mature erythrocyte microRNAs may reflect clinical pathologies and cell differentiation processes pre-enucleation. This study evaluated erythrocyte microRNAs in children with cyanotic heart disease.MethodsErythrocyte microRNAs from children with cyanotic and acyanotic heart disease and without cardiac disease were quantified with Ion PGM System (n=10 per group). Differential expression was confirmed by quantitative PCR (qPCR; n=20 per group)...
January 17, 2018: Pediatric Research
https://www.readbyqxmd.com/read/29217833/calr-mutational-status-identifies-different-disease-subtypes-of-essential-thrombocythemia-showing-distinct-expression-profiles
#17
Roberta Zini, Paola Guglielmelli, Daniela Pietra, Elisa Rumi, Chiara Rossi, Sebastiano Rontauroli, Elena Genovese, Tiziana Fanelli, Laura Calabresi, Elisa Bianchi, Simona Salati, Mario Cazzola, Enrico Tagliafico, Alessandro M Vannucchi, Rossella Manfredini
Polycythemia vera (PV) and essential thrombocythemia (ET) are Philadelphia-negative myeloproliferative neoplasms (MPNs) characterized by erythrocytosis and thrombocytosis, respectively. Approximately 95% of PV and 50-70% of ET patients harbor the V617F mutation in the exon 14 of JAK2 gene, while about 20-30% of ET patients carry CALRins5 or CALRdel52 mutations. These ET CALR-mutated subjects show higher platelet count and lower thrombotic risk compared to JAK2-mutated patients. Here, we showed that CALR-mutated and JAK2V617F-positive CD34+ cells display different gene and miRNA expression profiles...
December 8, 2017: Blood Cancer Journal
https://www.readbyqxmd.com/read/29206630/does-untreated-obstructive-sleep-apnea-cause-secondary-erythrocytosis
#18
Christopher D Nguyen, Jon-Erik C Holty
BACKGROUND: The current literature suggests a relationship between obstructive sleep apnea (OSA) severity and hematocrit. However, the degree that OSA contributes to clinically significant erythrocytosis is uncertain. The aim of this study is to evaluate this association in a large study sample controlling for multiple confounders. METHODS: We evaluated consecutive subjects with suspected untreated OSA using multivariate analysis to test the associations between apnea-hypopnea index (AHI) and hematocrit...
September 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/29202466/loss-of-pleckstrin-2-reverts-lethality-and-vascular-occlusions-in-jak2v617f-positive-myeloproliferative-neoplasms
#19
Baobing Zhao, Yang Mei, Lan Cao, Jingxin Zhang, Ronen Sumagin, Jing Yang, Juehua Gao, Matthew J Schipma, Yanfeng Wang, Chelsea Thorsheim, Liang Zhao, Timothy Stalker, Brady Stein, Qiang Jeremy Wen, John D Crispino, Charles S Abrams, Peng Ji
V617F driver mutation of JAK2 is the leading cause of the Philadelphia-chromosome-negative myeloproliferative neoplasms (MPNs). Although thrombosis is a leading cause of mortality and morbidity in MPNs, the mechanisms underlying their pathogenesis are unclear. Here, we identified pleckstrin-2 (Plek2) as a downstream target of the JAK2/STAT5 pathway in erythroid and myeloid cells, and showed that it is upregulated in a JAK2V617F-positive MPN mouse model and in patients with MPNs. Loss of Plek2 ameliorated JAK2V617F-induced myeloproliferative phenotypes including erythrocytosis, neutrophilia, thrombocytosis, and splenomegaly, thereby reverting the widespread vascular occlusions and lethality in JAK2V617F-knockin mice...
January 2, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29176544/pi3k-akt-signal-transduction-molecules-maybe-involved-in-downregulation-of-erythroblasts-apoptosis-and-perifosine-increased-its-apoptosis-in-chronic-mountain-sickness
#20
Chengyu Zhao, Zhanquan Li, Linhua Ji, Jie Ma, Ri-Li Ge, Sen Cui
BACKGROUND Chronic mountain sickness (CMS) has a higher incidence in the plateau region. The one of its principal characters is excessive erythrocytosis. The PI3K-Akt pathway plays an important role in the process of erythropoiesis, and could downregulate apoptosis by regulating apoptosis-related molecules. In this paper, we explored the change in apoptosis of erythroblasts and the effect of the PI3K-Akt signal pathway on erythroblasts apoptosis in CMS. MATERIAL AND METHODS A total of 22 CMS and 20 non-CMS participants were involved in this study...
November 26, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
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