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https://www.readbyqxmd.com/read/28623191/renal-capillary-haemangioma-associated-with-renal-cell-carcinoma-and-polycythaemia-in-acquired-cystic-disease
#1
Matthew Beamer, Matthew Love, Seyed Ghasemian
Capillary haemangiomas are relatively common tumours, typically occurring in the subcutaneous tissue during childhood. However, visceral occurrence is very rare. These tumours make up a subset of vascular lesions that have previously, although rarely, been described in case reports in association with the kidney. Here we review the literature and describe a capillary haemangioma occurring in the renal hilum found to be coexistent with end-stage renal disease, renal cell carcinoma and polycythaemia. To our knowledge, this is the first case report to describe the occurrence of this tumour in the renal hilum in association with this constitution of renal pathologies...
June 16, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28615140/imaging-features-of-myeloproliferative-neoplasms
#2
REVIEW
I G Murphy, E L Mitchell, L Raso-Barnett, A L Godfrey, E M Godfrey
Myeloproliferative neoplasms (MPNs) are a heterogeneous group of haematological disorders including polycythaemia vera (PV), essential thrombocythaemia (ET), primary myelofibrosis (PMF), and chronic myeloid leukaemia (CML). These disorders show large overlap in genetic and clinical presentations, and can have many different imaging manifestations. Unusual thromboses, embolic events throughout the systemic or pulmonary vasculature, or osseous findings can often be clues to the underlying disease. There is limited literature about the imaging features of these disorders, and this may result in under-diagnosis...
June 11, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28614617/urticaria-pigmentosa-with-concomitant-polycythaemia-vera-in-a-3-year-old-boy
#3
B E K Guevara, V P Guillano, J F Dayrit
No abstract text is available yet for this article.
June 14, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28602585/janus-kinase-2-inhibitor-fedratinib-in-patients-with-myelofibrosis-previously-treated-with-ruxolitinib-jakarta-2-a-single-arm-open-label-non-randomised-phase-2-multicentre-study
#4
Claire N Harrison, Nicolaas Schaap, Alessandro M Vannucchi, Jean-Jacques Kiladjian, Ramon V Tiu, Pierre Zachee, Eric Jourdan, Elliott Winton, Richard T Silver, Harry C Schouten, Francesco Passamonti, Sonja Zweegman, Moshe Talpaz, Joanne Lager, Zhenming Shun, Ruben A Mesa
BACKGROUND: Myelofibrosis is a chronic myeloproliferative neoplasm characterised by splenomegaly, cytopenias, bone marrow fibrosis, and debilitating symptoms including fatigue, weight loss, and bone pain. Mutations in Janus kinase-2 (JAK2) occur in approximately 50% of patients. The only approved JAK2 inhibitor for myelofibrosis is the dual JAK1 and JAK2 inhibitor, ruxolitinib. 58-71% of patients treated with ruxolitinib in clinical trials so far have not achieved the primary endpoint of 35% or more reduction in spleen volume from baseline assessed by MRI or CT...
June 8, 2017: Lancet Haematology
https://www.readbyqxmd.com/read/28550306/a-novel-somatic-transforming-mutation-in-the-extracellular-domain-of-epidermal-growth-factor-receptor-identified-in-myeloproliferative-neoplasm
#5
D A Casolari, T Nguyen, C M Butcher, D G Iarossi, C N Hahn, S C Bray, P Neufing, W T Parker, J Feng, K Z Y Maung, A Wee, L Vidovic, C H Kok, P G Bardy, S Branford, I D Lewis, S W Lane, H S Scott, D M Ross, R J D'Andrea
We describe a novel ERBB1/EGFR somatic mutation (p. C329R; c.985 T > C) identified in a patient with JAK2(V617F) Polycythaemia Vera (PV). This substitution affects a conserved cysteine residue in EGFR domain 2 and leads to the formation of a ligand-independent covalent receptor dimer, associated with increased transforming potential. Aberrant signalling from the EGFR(C329R) receptor is cell type-dependent and in the TF1.8 erythroid cell line expression of this mutant suppresses EPO-induced differentiation...
May 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28542718/impact-of-genotype-on-leukaemic-transformation-in-polycythaemia-vera-and-essential-thrombocythaemia
#6
Alberto Alvarez-Larrán, Alicia Senín, Concepción Fernández-Rodríguez, Arturo Pereira, Eduardo Arellano-Rodrigo, Montse Gómez, Francisca Ferrer-Marin, Joaquín Martínez-López, Laura Camacho, Dolors Colomer, Anna Angona, Blanca Navarro, Francisco Cervantes, Carlos Besses, Beatriz Bellosillo, Juan Carlos Hernández-Boluda
The influence of driver mutations on leukaemic transformation was analysed in 1747 patients with polycythaemia vera or essential thrombocythaemia. With a median follow-up of 7·2 years, 349 patients died and 62 progressed to acute leukaemia or myelodysplastic syndrome. Taking death as a competing risk, CALR genotype was associated with a lower risk of transformation [subdistribution hazard ratio (SHR): 0·13, 95% confidence interval (CI): 0·2-0·9, P = 0·039], whereas JAK2 V617F showed borderline significance for higher risk (SHR: 2·05, 95% CI: 0·9-4·6, P = 0·09)...
May 23, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28504778/chorea-in-the-older-adult-a-full-blooded-answer
#7
A J Degnan, E Capek, A Bowman
Chorea is a severe, distressing, movement disorder characterised by excessive, purposeless movements of the limbs, head and orofacial muscles in a generalised and irregularly-timed fashion. In young patients, neurodegenerative (Huntington's disease) and metabolic (Wilson's disease) aetiologies are most common. In the older population, the differential widens to include genetic, structural, metabolic and pharmacological causes. We present a case of an older man who developed progressive choreoathetosis secondary to polycythaemia vera which resolved with serial venesections...
December 2016: Journal of the Royal College of Physicians of Edinburgh
https://www.readbyqxmd.com/read/28491265/experience-with-ruxolitinib-in-the-treatment-of-polycythaemia-vera
#8
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/28474342/a-retrospective-analysis-of-the-impact-of-treatments-and-blood-counts-on-survival-and-the-risk-of-vascular-events-during-the-course-of-polycythaemia-vera
#9
Anneli Enblom-Larsson, Francois Girodon, Marie Bak, Ditte Hersby, Valérie Jooste, Hans Hasselbalch, Peter Johansson, Björn Andreasson
Vascular and non-vascular complications are common in patients with polycythaemia vera. This retrospective study of 217 patients with polycythaemia vera aimed to determine whether blood counts with respect to different treatments influenced the complication rate and survival. We found that 78 (36%) patients suffered from at least one complication during follow-up. Older age and elevated lactate dehydrogenase at diagnosis were found to be risk factors for vascular complications. When the vascular complication occurred, 41% of the patients with a complication had elevated white blood cells (WBC) compared with 20% of patients without a complication (P = 0·042)...
June 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28393599/-epidemiologic-features-of-philadelphia-negative-chronic-myeloproliferative-disorders-in-szabolcs-szatm%C3%A3-r-bereg-county-hungary-analysis-of-data-of-a-33-year-period
#10
János Jakó, László Szerafin
INTRODUCTION: In their previous work, the authors reported findings from 30 years on the incidence of hematological malignancies in Szabolcs-Szatmár-Bereg county, Hungary. Until now there are no other studies on this topic available in Hungary. AIM: Detailed analysis of epidemiologic features of patients with Philadelphia-negative chronic myeloproliferative disorders was carried out. METHOD: During a 33-year period (between January 1, 1983 and December 31, 2015) 4523 adult patients with hematologic malignancies were recorded in the leukaemia/lymphoma registry of Szabolcs-Szatmár-Bereg county...
April 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28365441/the-multi-site-docking-protein-gab1-is-constitutively-phosphorylated-independent-from-its-recruitment-to-the-plasma-membrane-in-jak2-v617f-positive-cells-and-mediates-proliferation-of-human-erythroleukaemia-cells
#11
Hannes Bongartz, Wiebke Hessenkemper, Christian Müller, Melissa Fensky, Johannes Fritsch, Katharina Mandel, Iris Behrmann, Claude Haan, Thomas Fischer, Stephan M Feller, Fred Schaper
The constitutively active Janus kinase 2 mutant Jak2-V617F is responsible for cytokine-independent growth of hematopoietic cells and the development of myeloproliferative neoplasms, such as polycythaemia vera and essential thrombocythaemia. Cells expressing Jak2-V617F exhibit constitutive STAT, MAPK, and PI3K signalling, and constitutive association of the multi-site docking protein Gab1 to PIP3 at the plasma membrane. Here, we demonstrate the crucial role of Gab1 for the proliferation of Jak2-V617F-positive human erythroleukaemia (HEL) cells...
March 30, 2017: Cellular Signalling
https://www.readbyqxmd.com/read/28321281/effects-of-maternal-hypertension-on-the-neonatal-haemogram-in-southern-nigeria-a-case-control-study
#12
Helen C Okoye, Lisa I Eweputanna, Kaladada I Korubo, Oseikhuemen A Ejele
BACKGROUND: Hypertension in pregnancy is a leading cause of maternal and neonatal morbidity and mortality. This study aimed to compare the hematological parameters in neonates of hypertensive mothers with those of normotensive mothers, and also to compare the incidence of polycythaemia, neutropenia and thrombocytopenia in both groups. METHODS: This was a hospital-based case control study. Three milliliters of cord blood from neonates of women with hypertension in pregnancy and those of normotensive pregnant women were sampled for haemogram parameters using a 3-part autoanalyser...
December 2016: Malawi Medical Journal: the Journal of Medical Association of Malawi
https://www.readbyqxmd.com/read/28291640/pegylated-interferon-alfa-2a-in-patients-with-essential-thrombocythaemia-or-polycythaemia-vera-a-post-hoc-median-83-month-follow-up-of-an-open-label-phase-2-trial
#13
Lucia Masarova, Keyur P Patel, Kate J Newberry, Jorge Cortes, Gautam Borthakur, Marina Konopleva, Zeev Estrov, Hagop Kantarjian, Srdan Verstovsek
BACKGROUND: Pegylated interferon alfa-2a is an immunomodulatory agent used to treat polycythemia vera. The durability of responses and long-term safety of this drug in patients with polycythaemia vera and essential thrombocythaemia have not been reported. Here, we present long-term efficacy and safety data from a single-centre, open-label, phase 2 trial, after a median of 83 months follow up. METHODS: Patients older than 18 years who were diagnosed with essential thrombocythaemia or polycythaemia vera according to 2001 WHO criteria were eligible to enrol in our study...
April 2017: Lancet Haematology
https://www.readbyqxmd.com/read/28284066/successful-treatment-of-proton-pump-inhibitor-induced-sporadic-fundic-gland-polyps-with-an-argon-plasma-coagulator-in-a-patient-with-polycythaemia-vera
#14
Kazuya Kato, Yoshiaki Iwasaki, Masahiko Taniguchi, Kazuhiko Onodera, Takako Kawakami, Minoru Matsuda, Mineko Higuchi, Kimitaka Kato, Yurina Kato, Susumu Tamakawa, Hiroyuki Furukawa
INTRODUCTION: Proton pump inhibitor (PPI) use is associated with the development of fundic gland polyps (FGPs); discontinuing PPIs is associated with regression of FGPs. Here, we report a rare case of non-respondent FGPs after discontinuation of PPI that were successfully treated using an argon plasma coagulator (APC). PRESENTATION OF CASE: We present the case of a 68-year-old woman with a history of polycytheamia vera. She also had gastroesophageal reflux disease (GERD) and had been taking 10 mg of omeprazole daily for the past three years...
February 24, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28280082/bumpy-road-to-the-diagnosis-of-polycythaemia-vera
#15
Rita de Sousa Gameiro, Ana Rodrigues, Fernando Martos Gonçalves, José Pimenta da Graça
Polycythaemia vera (PV) is the most common myeloproliferative neoplasm, characterised by increased red cell mass that can present as an unspecified symptom or a thrombohaemorrhagic event. Its diagnosis is based on the presence of erythrocytosis, the identification of the Janus kinase 2 mutation and bone marrow aspirate or biopsy alterations. The challenge of this disease lies on the treatment approach. Its cornerstone is phlebotomy, but depending on the vascular risk, it can include cytoreductive agents, low-dose aspirin or even anticoagulation...
March 9, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28260267/performing-therapeutic-venesection-in-a-doctor-s-surgery
#16
Lim Hy, Ho Wk Ho
BACKGROUND: Although venesection was widely applied in the past for the treatment of various ailments and diseases, in modern medical practice, it is indicated in very few conditions, namely, hereditary haemochromatosis, polycythaemia and porphyria cutanea tarda. OBJECTIVE: This article briefly reviews the pathophysiology of these conditions, and the rationale and goals of therapeutic venesection as a treatment modality. It also summarises the venesection procedure itself and the considerations for setting up a venesection service in a doctor's surgery...
March 2017: Australian Family Physician
https://www.readbyqxmd.com/read/28220932/a-phase-2-study-of-simtuzumab-in-patients-with-primary-post-polycythaemia-vera-or-post-essential-thrombocythaemia-myelofibrosis
#17
MULTICENTER STUDY
Srdan Verstovsek, Michael R Savona, Ruben A Mesa, Hua Dong, Julia D Maltzman, Shringi Sharma, Jeffrey Silverman, Stephen T Oh, Jason Gotlib
Simtuzumab, a monoclonal antibody inhibitor of extracellular matrix enzyme lysyl oxidase-like-2, showed preclinical promise and was well tolerated in clinical studies. A phase 2, open-label study of simtuzumab was conducted in patients with primary myelofibrosis (MF), post-polycythaemia vera MF and post-essential thrombocythaemia MF. Fifty-four patients were randomized to receive simtuzumab alone (200 or 700 mg [n = 12 each group]) or simtuzumab (200 or 700 mg) with ruxolitinib (n = 15 each group) for 24 weeks...
March 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28148580/myocardial-infarction-with-proximal-occlusion-of-the-left-anterior-descending-coronary-artery-in-a-22-year-old-patient-with-polycythaemia-vera
#18
Alexander Nahler, David Fuchs, Christian Reiter, Daniel Kiblböck, Clemens Steinwender, Thomas Lambert
In this article, we report on a 22-year-old patient with myocardial infarction, which was the initial manifestation of polycythaemia vera. The awareness of myeloproliferative disorders as possible underlying disease - especially in young patients presenting with myocardial infarction - is crucial for clinical management, as a missed diagnosis can worsen the patient's further prognosis.
February 2017: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/28137897/blood-brain-and-binocular-vision
#19
Egle Rostron, Mary Polly Dickerson, Gregory Heath
A man aged 51 years presented with sudden onset, horizontal, binocular, double vision and right facial weakness. Ocular motility examination demonstrated a right horizontal gaze palsy pattern in keeping with a one-and-a-half syndrome. Since this was associated with a concomitant, ipsilateral, lower motor neuron (LMN) facial (VIIth) cranial nerve palsy, he had acquired an eight-and-a-half syndrome. Diffusion-weighted MRI confirmed a small infarcted area in the pons of the brainstem which correlated with anatomical location of the horizontal gaze centre and VIIth cranial nerve fasciculus...
January 30, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28131541/cobalt-toxicity-after-revision-total-hip-replacement-due-to-fracture-of-a-ceramic-head
#20
J M Pelayo-de Tomás, C Novoa-Parra, P Gómez-Barbero
Symptomatic cobalt toxicity from a failed total hip replacement is a rare, but devastating complication. Potential clinical findings include cardiomyopathy, hypothyroidism, skin rash, visual and hearing impairment, polycythaemia, weakness, fatigue, cognitive impairment, and neuropathy. The case is presented of a 74year-old man in whom, after a ceramic-ceramic replacement and two episodes of prosthetic dislocation, it was decided to replace it with a polyethylene-metal total hip arthroplasty (THA). At 6months after the revision he developed symptoms of cobalt toxicity, confirmed by analytical determination (serum cobalt level=651...
January 25, 2017: Revista Española de Cirugía Ortopédica y Traumatología
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