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Erythrocytosis

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https://www.readbyqxmd.com/read/28768701/hb-baden-a-rare-high-affinity-haemoglobin-variant-and-its-management
#1
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
#2
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
#3
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
#4
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...
July 15, 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
#5
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...
July 14, 2017: Andrology
https://www.readbyqxmd.com/read/28694195/hemoglobins-emerging-roles-in-mental-disorders-metabolical-genetical-and-immunological-aspects
#6
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...
July 8, 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
#7
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
https://www.readbyqxmd.com/read/28667082/new-hif2a-inhibitors-implications-for-pheochromocytomas-and-paragangliomas
#8
Rodrigo Almeida Toledo
Two recent independent studies published in Nature show robust responses of clear cell renal cell carcinoma (ccRCC) cell lines, preclinical ccRCC xenograft models and, remarkably, a patient with progressive ccRCC despite receiving multiple lines of treatment, to the long-awaited, recently developed inhibitors of hypoxia-inducible factor 2-alpha (HIF2α). This Commentary is based on the recognition of similar molecular drivers in ccRCC and the endocrine neoplasias pheochromocytomas and paragangliomas (PPGLs), ultimately leading to stabilization of HIFs...
June 30, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28665150/association-between-plasma-n-acylethanolamides-and-high-hemoglobin-concentration-in-southern-peruvian-highlanders
#9
Dulce E Alarcón-Yaquetto, Lidia Caballero, Gustavo F Gonzales
Alarcón-Yaquetto, Dulce E., Lidia Caballero, and Gustavo F. Gonzales. Association between plasma N-acylethanolamides and high hemoglobin concentration in Southern Peruvian highlanders. High Alt Med Biol 00:000-000, 2017.-High-altitude (HA) hypoxia is a stressful condition endured by organisms through different mechanisms. Failing to adapt to chronic HA exposure leads to a disease called chronic mountain sickness (CMS) characterized by excessive erythrocytosis (hemoglobin [Hb] ≥19 g/dL for women and ≥21 g/dL for men)...
June 30, 2017: High Altitude Medicine & Biology
https://www.readbyqxmd.com/read/28663364/platelet-count-and-mean-platelet-volume-predict-outcome-in-adults-with-eisenmenger-syndrome
#10
Agustin C Martin-Garcia, Deepa Rj Arachchillage, Aleksander Kempny, Rafael Alonso-Gonzalez, Ana Martin-Garcia, Anselm Uebing, Lorna Swan, Stephen J Wort, Laura C Price, Colm McCabe, Pedro Luis Sanchez, Konstantinos Dimopoulos, Michael A Gatzoulis
OBJECTIVES: Although a significant proportion of patients with cyanotic congenital heart disease are thrombocytopaenic, its prevalence and clinical significance in adults with Eisenmenger syndrome (ES) is not well studied. Accordingly, we examined the relationship of thrombocytopaenia and mean platelet volume (MPV) to bleeding or thrombotic complications and survival in a contemporary cohort of patients with ES, including patients with Down syndrome. METHODS: Demographics, laboratory and clinical data were analysed from 226 patients with ES under active follow-up over 11 years...
June 29, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28659202/-polycythaemia-in-a-patient-with-uterus-myomatosus
#11
J P de Boer, G Velders, R Aliredjo, E Scheenjes, T W H Flinsenberg
BACKGROUND: Myomatous erythrocytosis syndrome (MES) is characterised by a combination of polycythaemia, uterus myomatosus and the normalisation of erythrocyte count after hysterectomy. CASE DESCRIPTION: A 58-year-old postmenopausal woman was referred to the gynaecologist with symptoms of vaginal blood loss, increased abdominal circumference and pollakiuria. Physical examination indicated her uterus was enlarged to the size of a 24-week gestation. Endometrial malignancy was excluded and ultrasound showed a myoma...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28619952/cardiometabolic-correlates-of-sleep-disordered-breathing-in-andean-highlanders
#12
Luu V Pham, Catherine H Miele, Noah G Schwartz, Rafael S Arias, Adi Rattner, Robert H Gilman, J Jaime Miranda, Vsevolod Y Polotsky, William Checkley, Alan R Schwartz
Associations between sleep disordered breathing (SDB) and cardiometabolic outcomes have not been examined in highlanders.We performed nocturnal polygraphy in Peruvian highlanders (3825 m). Multivariable linear regression models examined associations between SDB metrics and haemoglobin, glucose tolerance (haemoglobin A1c (HbA1c)), fasting glucose, homeostatic model-based assessments of insulin resistance and β-cell function (HOMA-IR and HOMA-β, respectively), blood pressure, and lipids, while adjusting for age, sex, body mass index (BMI) and wake oxygenation...
June 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28596648/the-impact-of-mean-platelet-volume-mpv-and-jak-2-mutation-on-thrombosis-in-chronic-myeloproliferative-diseases
#13
Mesut Ayer, İlhan Menken, Mehmet Yamak, Fatma Aylin Ayer, Onur Kırkızlar, M Burak Aktuğlu
Thrombosis and bleeding are the main complications of chronic myeloproliferative diseases. Mean platelet volume (MPV) is an important indicator of the platelet activation. The aim of the present study was to assess the interrelationships between MPV, JAK-2 gene mutation and thromboembolic events in patients with ET and PV. Patients with ET (n = 60) and PV (n = 46) were compared to the secondary erythrocytosis group (n = 19); and a control group of age and sex matched healthy volunteers (n = 52). Besides demographic, clinical and laboratory data; thrombotic and hemorrhagic events were recorded for each patient...
June 2017: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/28532286/hb-bakersfield-hba1-c-151_152insggagcc-the-insertion-of-arg-his-between-codons-49-and-50-of-the-%C3%AE-1-globin-chain-leads-to-increased-oxygen-affinity
#14
REVIEW
Saskia Brunner-Agten, Thomas von Känel, Benno Röthlisberger, Charles Broquet, Andreas R Huber
We describe an insertion variant on the α1-globin gene (HBA1) identified in a 49-year-old woman of Jurassian ancestry presenting with macrocytosis and erythrocytosis. The variant resulted in a peak of 15.5% of the total hemoglobin (Hb) on high performance liquid chromatography (HPLC). Stability and oxygen affinity testing revealed that the variant was stable and had an increased oxygen affinity. Molecular genetic testing detected the heterozygous sequence variant Hb Bakersfield [α50(CE8)His→0; Arg-Ser-His- inserted between 49(CE7) and 51(CE9) of α1; HBA1: c...
January 2017: Hemoglobin
https://www.readbyqxmd.com/read/28526632/erythrocytosis-following-testosterone-therapy
#15
REVIEW
Samuel J Ohlander, Bibin Varghese, Alexander W Pastuszak
INTRODUCTION: A rapid increase in awareness of androgen deficiency has led to substantial increases in prescribing of testosterone therapy (TTh), with benefits of improvements in mood, libido, bone density, muscle mass, body composition, energy, and cognition. However, TTh can be limited by its side effects, particularly erythrocytosis. This review examines the literature on testosterone-induced erythrocytosis and polycythemia. AIM: To review the available literature on testosterone-induced erythrocytosis, discuss possible mechanisms for pathophysiology, determine the significance of formulation, and elucidate potential thromboembolic risk...
May 16, 2017: Sexual Medicine Reviews
https://www.readbyqxmd.com/read/28491265/experience-with-ruxolitinib-in-the-treatment-of-polycythaemia-vera
#16
REVIEW
Samah Alimam, Claire Harrison
Polycythaemia vera (PV) is a myeloproliferative neoplasm classically characterized by an erythrocytosis and is associated with a high risk of thromboembolic events, constitutional symptoms burden and risk of transformation to myelofibrosis and acute myeloid leukaemia. Therapy is directed at the haematocrit (HCT) to reduce the risk of thrombotic events and usually comprises low-dose aspirin and phlebotomy to maintain HCT at >45%. Frequently in addition, cytoreductive therapy is indicated in high-risk patients for normalizing haematological parameters to mitigate the occurrence of thromboembolic events...
April 2017: Therapeutic Advances in Hematology
https://www.readbyqxmd.com/read/28439222/hemochromatosis-erythrocytosis-and-the-jak2-p-v617f-mutation
#17
EDITORIAL
Stephen E Langabeer
No abstract text is available yet for this article.
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28400504/cardiopulmonary-phenotype-associated-with-human-phd2-mutation
#18
Nick P Talbot, Thomas G Smith, George M Balanos, Keith L Dorrington, Patrick H Maxwell, Peter A Robbins
Oxygen-dependent regulation of the erythropoietin gene is mediated by the hypoxia-inducible factor (HIF) family of transcription factors. When oxygen is plentiful, HIF undergoes hydroxylation by a family of oxygen-dependent prolyl hydroxylase domain (PHD) proteins, promoting its association with the von Hippel-Lindau (VHL) ubiquitin E3 ligase and subsequent proteosomal degradation. When oxygen is scarce, the PHD enzymes are inactivated, leading to HIF accumulation and upregulation not only of erythropoietin expression, but also the expression of hundreds of other genes, including those coordinating cardiovascular and ventilatory adaptation to hypoxia...
April 2017: Physiological Reports
https://www.readbyqxmd.com/read/28393779/the-utility-of-preoperative-level-of-erythrocytosis-in-the-prediction-of-postoperative-blood-loss-and-30-day-mortality-in-patients-with-tetralogy-of-fallot
#19
Jhon Harold Guevara, Andres Zorrilla-Vaca, Gloria C Silva-Gordillo
BACKGROUND: Postoperative major bleeding is a relatively common complication of patients undergoing corrective surgery of tetralogy of Fallot (TOF). Life-threatening blood losses can lead to aggressive transfusions or reoperation. Little is known about the risk factors associated with a bleeding tendency in TOF patients. This study aimed to establish predictive models for postoperative blood loss and mortality in TOF patients. METHODS: We conducted a retrospective observational study involving patients with TOF who were posted for corrective cardiac surgery in a single hospital between 2010 and 2015...
April 2017: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/28348949/impact-of-advanced-medical-therapy-for-the-outcome-of-an-adult-patient-with-eisenmenger-syndrome
#20
Eglė Ereminienė, Marija Kinderytė, Skaidrius Miliauskas
Eisenmenger syndrome (ES) is the most severe form of pulmonary arterial hypertension (PAH) associated with congenital heart disease. It is an extremely devastating condition with a serious impact on patients' life. Classical therapy of ES remains directed to avoid complications, such as erythrocytosis, treatment of congestive heart failure, prevention of infection, and secondary haematological abnormalities such as iron deficiency and coagulation disorders. However, the only effective treatment is heart-lung transplantation; still, morbidity and mortality after transplantation remain substantially high...
2017: Respiratory Medicine Case Reports
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