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Erythrocytosis

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https://www.readbyqxmd.com/read/29156832/associations-of-high-altitude-polycythemia-with-polymorphisms-in-epas1-itga6-and-erbb4-in-chinese-han-and-tibetan-populations
#1
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
https://www.readbyqxmd.com/read/29150464/testosterone-therapy-in-hypogonadal-men-a-systematic-review-and-network-meta-analysis
#2
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
https://www.readbyqxmd.com/read/29138743/renal-adenocarcinoma-associated-erythrocytosis-in-a-cat-clinicopathological-features-and-immunohistochemical-results
#3
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
https://www.readbyqxmd.com/read/29119539/higher-prevalence-of-unrecognized-kidney-disease-at-high-altitude
#4
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
https://www.readbyqxmd.com/read/29093977/heterozygous-hemoglobin-sherwood-forest-causing-polycythemia
#5
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/29077517/therapeutic-efficacy-of-methazolamide-against-intermittent-hypoxia-induced-excessive-erythrocytosis-in-rats
#6
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
https://www.readbyqxmd.com/read/29071074/long-term-outcomes-of-patients-with-pulmonary-arteriovenous-malformations-considered-for-lung-transplantation-compared-with-similarly-hypoxaemic-cohorts
#7
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
https://www.readbyqxmd.com/read/29051279/expansion-of-epor-negative-macrophages-besides-erythroblasts-by-elevated-epor-signaling-in-erythrocytosis-mouse-models
#8
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/29039604/elevated-pentose-phosphate-pathway-is-involved-in-the-recovery-of-hypoxia%C3%A2-induced-erythrocytosis
#9
Chang Liu, Bao Liu, Er-Long Zhang, Wen-Ting Liao, Jie Liu, Bing-Da Sun, Gang Xu, Jian Chen, Yu-Qi Gao
As a typical model of hypoxia‑induced excessive erythrocytosis, high altitude polycythemia (HAPC) results in microcirculation disturbance, aggravates tissue hypoxia and results in a severe clinical outcome, without any effective intervention methods except for returning to an oxygen‑rich environment. The present study aimed to explore potential therapeutic targets which may participate in the recovery of HAPC by studying the mechanisms of reducing the hemoglobin (HB) concentration during re‑oxygenation...
December 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29038321/testosterone-use-causing-erythrocytosis
#10
Andrea Cervi, Amaris K Balitsky
No abstract text is available yet for this article.
October 16, 2017: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/29021147/atypical-haematological-presentation-in-a-case-of-polycythaemia-vera-with-a-new-variant-mutation-detected-in-exon-12-c-1605g-t-p-met535ile
#11
Amélia Soraia Andrade Pita, Ana Paula da Silva Azevedo, Alice Reichert, Cândido José Pimenta da Silva, Vanessa Henriques, Diana Sousa Mendes, Ana Maria Batalha Reis, Rita Cerqueira, Fátima Torres, João Faro Viana
One of the major genetic insights into the pathogenesis of polycythaemia vera included the identification of the somatic point gain-of-function mutations in Janus kinase 2 gene-first JAK2V617F on exon 14, present in 95%-97% of the cases, and later on exon 12. In the literature, we can find some reported studies where different exon 12 mutations are identified. Unlike patients with JAK2V617F mutation in exon 14, the mutation at exon 12 is not usually associated with an increase in the three haematopoietic series (erythrocytosis, leucocytosis and thrombocytosis)...
October 11, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28923650/does-renal-tubular-injury-induced-local-tissue-hypoxia-involve-post-transplantation-erythrocytosis
#12
A Unal, S Ata, C Karakurkcu, M Z Ciraci, I Kocyigit, M H Sipahioglu, B Tokgoz, O Oymak
BACKGROUND: The pathogenesis of post-transplantation erythrocytosis (PTE) is not well understood and appears to be multifactorial. Our hypothesis in this study was that several factors, including toxicity of calcineurin inhibitor, immunologic factors, and chronic allograft nephropathy, can trigger local tissue hypoxia in peritubular interstitium, which is where production of erythropoietin (EPO) takes place. This local interstitial tissue hypoxia can cause an increase in renal EPO production, which induces the development of PTE...
October 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28877745/erythrocytosis-caused-by-giant-chromophobe-renal-cell-carcinoma-a-case-report-indicating-a-9-year-misdiagnosis-of-polycythemia-vera
#13
Renbo Guo, Yiran Liang, Lei Yan, Zhonghua Xu, Juchao Ren
BACKGROUND: Erythrocytosis, a rare paraneoplastic syndrome, generally occurs in patients with clear cell renal cell carcinoma and has never been reported in patients with chromophobe renal cell carcinoma. CASE PRESENTATION: We report a case of a young man suffering from a giant (22-cm) mass on his left kidney. Because of a history of polycythemia vera, the patient had been treated for the condition for 9 years. Radical nephrectomy was successfully performed, and the postoperative pathologic examination confirmed a diagnosis of chromophobe renal cell carcinoma...
September 6, 2017: Chinese Journal of Cancer
https://www.readbyqxmd.com/read/28768701/hb-baden-a-rare-high-affinity-haemoglobin-variant-and-its-management
#14
Joe Lee, Claire N Harrison
Haemoglobin Baden is a rare variant haemoglobin which has only recently been clinically and functionally characterised. We present the case of a young adult male patient who presented with an erythrocytosis but was clinically asymptomatic. His mother was also diagnosed retrospectively having presented with erythrocytosis being treated with regular venesections. We discuss the management plan and potential significance of being a carrier of this rare haemoglobin variant.
August 2, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28756498/post-transplant-erythrocytosis-related-maculopathy-successful-management-of-hyperviscosity-with-phlebotomy
#15
Sumeet Khanduja, Brijesh Takkar, Neha Khanduja, Pradeep Venkatesh
PURPOSE: To report clinical features in a case of hyperviscosity retinopathy following post-renal transplant erythrocytosis (PTE) and its outcome after phlebotomy. METHODS: Fundus fluorescein angiography and optical coherence tomography (OCT) were carried out for a 29-year-old renal allograft recipient who presented with acute unilateral visual loss. RESULT: There was mild retinal vascular dilation in both eyes with retinal hemorrhages and retinal opaqueness in left eye...
July 29, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28721216/switch-to-restoration-therapy-in-a-testosterone-treated-central-hypogonadism-with-erythrocytosis
#16
B Cangiano, C Cacciatore, L Persani, M Bonomi
We describe a case of severe erythrocytosis caused by testosterone replacement therapy in a 66-year-old man affected with hypogonadotropic hypogonadism (HH) determining osteoporosis, resolved by switching to restoration therapy with clomiphene citrate. The patient complained fatigue, loss of libido and defective erections and a spontaneous vertebral fracture despite bisphosphonate therapy and vitamin D supplementation. The examinations proved isolated HH and he was therefore treated with testosterone gel with regression of specific manifestations but elevated hemoglobin and hematocrit values...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28720395/acetazolamide-and-n-acetylcysteine-in-the-treatment-of-chronic-mountain-sickness-monge-s-disease
#17
Shailendra Sharma, Jane Gralla, Joyce Gonzalez Ordonez, Maria-Elena Hurtado, Erik R Swenson, Robert B Schoene, Jackeline Pando Kelly, David Callacondo, Christopher Rivard, Carlos Roncal-Jimenez, Jeffrey Sirota, Richard Fuquay, Brian P Jackson, Kai E Swenson, Richard J Johnson, Abdias Hurtado, Elizabeth Escudero
Patients suffering from chronic mountain sickness (CMS) have excessive erythrocytosis. Low -level cobalt toxicity as a likely contributor has been demonstrated in some subjects. We performed a randomized, placebo controlled clinical trial in Cerro de Pasco, Peru (4380m), where 84 participants with a hematocrit (HCT) ≥65% and CMS score>6, were assigned to four treatment groups of placebo, acetazolamide (ACZ, which stimulates respiration), N-acetylcysteine (NAC, an antioxidant that chelates cobalt) and combination of ACZ and NAC for 6 weeks...
December 2017: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/28709177/effects-of-testosterone-therapy-on-bmi-blood-pressure-and-laboratory-profile-of-transgender-men-a-systematic-review
#18
I Velho, T M Fighera, P K Ziegelmann, P M Spritzer
Testosterone is the main hormonal agent used for cross-sex hormone therapy in female-to-male transgender persons. Our aim was to systematically review the literature concerning the effects of testosterone on body mass index (BMI), blood pressure, hematocrit, hemoglobin, lipid profile, and liver enzymes in transgender men. PUBMED and EMBASE were searched for studies published until March 2017. Studies were included if they reported interventions with any dose of testosterone and comparison of variables before and during treatment...
September 2017: Andrology
https://www.readbyqxmd.com/read/28694195/hemoglobins-emerging-roles-in-mental-disorders-metabolical-genetical-and-immunological-aspects
#19
REVIEW
Meric A Altinoz, Bahri Ince
Hemoglobin (Hb) expression in the central nervous system is recently shown. Cooccurences of mental disorders (mainly bipolar disorder (BD) and tic disorders) with β- or α-thalassemia trait or erythrocytosis were witnessed, which may be due to peripheral or central hypoxia/hyperoxia or haplotypal gene interactions. β-Globin genes reside at 11p15.5 close to tyrosine hydroxylase, dopamine receptor DRD4 and Brain Derived Neurotrophic Factor, which involve in psychiatric diseases. α-Globin genes reside at 16p13...
October 2017: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/28674362/the-amelioration-of-myelofibrosis-with-thrombocytopenia-by-a-jak1-2-inhibitor-ruxolitinib-in-a-post-polycythemia-vera-myelofibrosis-patient-with-a-jak2-exon-12-mutation
#20
Kazuhiko Ikeda, Koki Ueda, Takahiro Sano, Kazuei Ogawa, Takayuki Ikezoe, Yuko Hashimoto, Soji Morishita, Norio Komatsu, Hitoshi Ohto, Yasuchika Takeishi
Less than 5% of patients with polycythemia vera (PV) show JAK2 exon 12 mutations. Although PV patients with JAK2 exon 12 mutations are known to develop post-PV myelofibrosis (MF) as well as PV with JAK2V617F, the role of JAK inhibitors in post-PV MF patients with JAK2 exon 12 mutations remains unknown. We describe how treatment with a JAK1/2 inhibitor, ruxolitinib, led to the rapid amelioration of marrow fibrosis, erythrocytosis and thrombocytopenia in a 77-year-old man with post-PV MF who carried a JAK2 exon 12 mutation (JAK2H538QK539L)...
2017: Internal Medicine
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