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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
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
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
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...
February 26, 2018: Journal of Clinical Investigation
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
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
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...
January 13, 2018: Laboratory Medicine
Nobuhiro Mukai, Yoshinobu Nakayama, Satoshi Murakami, Toshihito Tanahashi, Daniel I Sessler, Sachiyo Ishii, Satoru Ogawa, Natsuko Tokuhira, Toshiki Mizobe, Teiji Sawa, Yasufumi Nakajima
BACKGROUND: Children 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. METHODS: Erythrocyte microRNAs from children with cyanotic and acyanotic heart disease and without cardiac disease were quantified with Ion PGM System (n=10 per group)...
December 27, 2017: Pediatric Research
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
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
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
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
Yiduo Zhao, Zhiying Zhang, Lijun Liu, Yao Zhang, Xiaowei Fan, Lifeng Ma, Jing Li, Yuan Zhang, Haijin He, Longli Kang
High altitude polycythemia (HAPC) is a common chronic disease at high altitude, which is characterized by excessive erythrocytosis (females, hemoglobin ≥ 190 g/L; males, hemoglobin ≥ 210 g/L). It is the most common disease in chronic mountain sickness casued primarily by persistent arterial hypoxia and ventilatory impairment. However, the disease is still unmanageable and related molecular mechanisms remain largely unclear. This study aims to explore the genetic basis of HAPC in the Chinese Han and Tibetan populations...
October 17, 2017: Oncotarget
Jesse Elliott, Shannon E Kelly, Adam C Millar, Joan Peterson, Li Chen, Amy Johnston, Ahmed Kotb, Becky Skidmore, Zemin Bai, Muhammad Mamdani, George A Wells
OBJECTIVE: To assess the relative effects of individual testosterone products among hypogonadal men. DESIGN: Systematic review and network meta-analysis. METHODS: We searched MEDLINE, Embase, Cochrane CENTRAL, and grey literature (25 May 2017) for randomised-controlled trials (RCTs) and non-randomised studies (NRS) that involved hypogonadal men given testosterone replacement therapy (TRT) for ≥3 months. Comparators were placebo, another TRT, or the same product at a different dose...
November 16, 2017: BMJ Open
Roberta Troia, Chiara Agnoli, Federico Fracassi, Giuliano Bettini, Alessandra Sfacteria, Luciano Pisoni, Francesco Dondi
This report documents a case of secondary inappropriate erythrocytosis in a cat with renal cell adenocarcinoma, its stabilization through manual erythrocytapheresis, and the EPO-immunostaining on the affected kidney. An 11-year-old cat was presented with lethargy, weight loss and polyuria/polydipsia. An abdominal mass was detected upon physical examination. Clinicopathological work-up revealed marked erythrocytosis (HCT value 64.8%), renal azotemia and decreased urine specific gravity (USG). An abdominal ultrasound was performed, localizing the mass in the right kidney...
2017: Open Veterinary Journal
Abdias Hurtado-Arestegui, Raul Plata-Cornejo, Arturo Cornejo, Guiliana Mas, Luz Carbajal, Shailendra Sharma, Erik R Swenson, Richard J Johnson, Jackelina Pando
BACKGROUND: High altitude renal syndrome has been described in populations with excessive erythrocytosis. We evaluated whether high altitude (HA) dwellers might be at increased risk for kidney disease. METHODS: We performed a cross-sectional study to investigate differences in prevalence of kidney function and metabolic syndrome in healthy subjects living at HA vs. sea level (SL) without any known history of hypertension, diabetes or chronic kidney disease. RESULTS: We examined 293 subjects, aged 40 to 60 years: 125 SL (154 m) and 168 HA (3640 m) dwellers...
November 8, 2017: Journal of Nephrology
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
Zhiqing Zhang, Zhonghai Xiao, Bingnan Deng, Xiaohua Liu, Wei Liu, Hongjing Nie, Xi Li, Zhaoli Chen, Danfeng Yang, Ruifeng Duan
Zhang, Zhiqing, Zhonghai Xiao, Bingnan Deng, Xiaohua Liu, Wei Liu, Hongjing Nie, Xi Li, Zhaoli Chen, Danfeng Yang, and Ruifeng Duan. Therapeutic efficacy of methazolamide against intermittent hypoxia-induced excessive erythrocytosis in rats. High Alt Med Biol 00:000-000, 2017.-This study aimed to determine whether methazolamide is effective for the treatment of chronic mountain sickness. Forty-eight male Wistar rats were randomly divided into eight groups: normoxia control, hypoxia control, hypoxia + acetazolamide (30 mg·kg(-1)·d(-1)), and five hypoxia + methazolamide groups (5, 10, 30, 90, and 120 mg·kg(-1)·d(-1))...
October 27, 2017: High Altitude Medicine & Biology
Claire L Shovlin, Elisabetta Buscarini, J Michael B Hughes, David J Allison, James E Jackson
INTRODUCTION: Pulmonary arteriovenous malformations (PAVMs) may not be amenable to treatment by embolisation or surgical resection, and many patients are left with significant hypoxaemia. Lung transplantation has been undertaken. There is no guidance on selection criteria. METHODS: To guide transplantation listing assessments, the outcomes of the six patients who had been considered for transplantation were compared with a similarly hypoxaemic patient group recruited prospectively between 2005 and 2016 at the same UK institution...
2017: BMJ Open Respiratory Research
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
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