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Polycythaemia

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https://www.readbyqxmd.com/read/29764825/sudden-hemichorea-and-frontal-lobe-syndrome-a-rare-presentation-of-unbalanced-polycythaemia-vera
#1
Carmen García-Cabo, Jessica Fernandez-Dominguez, Valentín Mateos
Polycythaemia vera (PV) is an haematological neoplasm that frequently presents neurological symptoms. However, chorea is a rare complication of this disease, occurring in less than 5% of the patients. Cognitive impairment related to PV unbalanced is also a rare complication, and it can improve with proper treatment. We present a 96-year-old-man with acute-onset hemichorea and frontal lobe syndrome with no vascular pathology in the basal ganglia or frontal region. A clear relationship was observed between the onset of involuntary movements and the cognitive impairment and worsening of haematological parameters in the patient...
May 14, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29704383/plasma-derived-microparticles-in-polycythaemia-vera
#2
M Ahadon, S Abdul Aziz, C L Wong, C F Leong
INTRODUCTION: Microparticles are membrane bound vesicles, measuring less than 1.0 um, which are released during cellular activation or during apoptosis. Studies have shown that these circulating microparticles play a role in coagulation, cell signaling and cellular interactions. Increased levels of circulating microparticles have been observed in a number of conditions where there is vascular dysfunction, thrombosis and inflammation. The objective of this study was to determine the various plasma-derived microparticles in patients with polycythaemia vera (PV) in Universiti Kebangsaan Malaysia Medical Centre and to compare them with normal control...
April 2018: Malaysian Journal of Pathology
https://www.readbyqxmd.com/read/29592977/artery-of-percheron-an-unusual-stroke-presentation
#3
Toby Pitts-Tucker, Jeremy Small
An 86-year-old woman was admitted with multiple episodes of transient loss of consciousness. She was initially treated for seizures, and stroke was not considered likely. MRI on the same day of admission showed acute bilateral medial thalamic infarcts in keeping with the Artery of Percheron (AOP) territory infarcts. Investigation for polycythaemia and thrombocytosis showed JAK2 positive myeloproliferative neoplasm.A diagnosis of AOP infarction is often missed or delayed because it is rare and presents with variable neurological symptoms...
March 28, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29520559/life-for-patients-with-myelofibrosis-the-physical-emotional-and-financial-impact-collected-using-narrative-medicine-results-from-the-italian-back-to-life-project
#4
Francesca Palandri, Giulia Benevolo, Alessandra Iurlo, Elisabetta Abruzzese, Angelo M Carella, Chiara Paoli, Giuseppe A Palumbo, Massimiliano Bonifacio, Daniela Cilloni, Alessandro Andriani, Attilio Guarini, Diamante Turri, Elena Maria Elli, Antonietta Falcone, Barbara Anaclerico, Pellegrino Musto, Nicola Di Renzo, Mario Tiribelli, Renato Zambello, Caterina Spinosa, Alessandra Ricco, Letizia Raucci, Bruno Martino, Mario Annunziata, Silvia Pascale, Anna Marina Liberati, Giorgio La Nasa, Margherita Maffioli, Massimo Breccia, Novella Pugliese, Silvia Betti, Gianfranco Giglio, Antonietta Cappuccio, Luigi Reale
PURPOSE: Myelofibrosis (MF) is a chronic myeloproliferative neoplasm characterised by an aggressive clinical course, with disabling symptoms and reduced survival. Patients experience a severely impaired quality of life and their families face the upheaval of daily routines and high disease-related financial costs. The aim of this study was to investigate the perceptions of Italian patients and their caregivers about living with MF and the burden of illness associated with MF. METHODS: A quali-quantitative questionnaire and a prompted written narrative survey were administered to patients affected by primary or post-essential thrombocythemia/post-polycythaemia vera MF and their primary caregiver in 35 Italian haematological centres...
June 2018: Quality of Life Research
https://www.readbyqxmd.com/read/29467101/ultrasound-screening-for-complications-in-twin-pregnancy
#5
Rosemary Townsend, Asma Khalil
In the decades since the introduction of ultrasound into routine obstetric practice, the advantages of ultrasound have moved beyond the simple ability to identify multiple pregnancies antenatally to the possibility of screening them for fetal anomalies, pre-eclampsia, preterm birth, and the complications specific to monochorionic pregnancies. Screening studies have often excluded twins because physiological differences impact on the validity and sensitivity of the screening tests in routine use in singletons, and therefore, the evidence of screening performance in multiple pregnancy lags behind the evidence from singleton pregnancies...
April 2018: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29285836/disease-and-treatment-characteristics-of-polycythemia-vera-patients-in-belgium-results-from-a-scientific-survey
#6
Timothy Devos, Yves Beguin, Lucien Noens, Koen Van Eygen, Pierre Zachée, Philippe Mineur, Laurent Knoops, Chantal Doyen, Koen Theunissen, Fleur Samantha Benghiat, Michael Reusens, Wim Pluymers
OBJECTIVE: The current survey aimed to gather predefined disease parameters and treatment strategies to characterize the polycythemia vera (PV) patient population in Belgium. METHODS: Cross-sectional data from PV patients, seen at least once between May 2014 and May 2015 at 10 sites in Belgium, were collected in aggregated form and analyzed descriptively and quantitatively. RESULTS: Data from 343 PV patients were collected. Of these, 174 (50...
April 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29285835/the-boy-with-the-ruddy-face-an-approach-to-polycythaemia-presenting-in-childhood
#7
Joyce Ching Mei Lam, Sally Campbell, Chris Barnes
No abstract text is available yet for this article.
April 2018: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/29279598/secondary-polycythaemia-in-a-malay-girl-with-homozygous-hb-tak
#8
H S Amran, M A Aziz, E George, N Mahmud, T Y Lee, S Md Noor
Hb Tak is one of more than 200 high affinity haemoglobin variants reported worldwide. It results from the insertion of two nucleotides (AC) at the termination codon, between codon 146 and codon 147 of the beta-globin gene [Beta 147 (+AC)]. Polycythaemia is the main clinical feature although affected carriers are usually asymptomatic and do not require intervention. Several case studies in this region have reported the co-inheritance of Hb Tak with Hb E, delta beta and beta thalassaemia with one case of homozygous Hb Tak in a Thai boy...
December 2017: Malaysian Journal of Pathology
https://www.readbyqxmd.com/read/29279594/poems-syndrome
#9
W W T Nyunt, R Remli, F A Abdul Muttlib, C F Leong, N Masir, N R Tumian, S F S Abdul Wahid
POEMS syndrome is the syndrome of Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal protein and typical Skin changes. A 65-year-old lady presented with the 2-day-history of inability to walk, 4-month-history of progressive worsening of muscle weakness of both lower limbs and 1-year-history of progressive worsening of bilateral numbness of lower limbs. Nerve conduction study revealed generalized sensorimotor demyelinating polyneuropathy. She was initially treated as chronic inflammatory demyelinating polyradiculoneuropathy with intravenous immunoglobulin (IVIG) and high-dose prednisolone...
December 2017: Malaysian Journal of Pathology
https://www.readbyqxmd.com/read/29246923/non-adherence-to-treatment-with-cytoreductive-and-or-antithrombotic-drugs-is-frequent-and-associated-with-an-increased-risk-of-complications-in-patients-with-polycythemia-vera-or-essential-thrombocythemia-ouest-study
#10
Ronan Le Calloch, Karine Lacut, Christelle Le Gall-Ianotto, Emmanuel Nowak, Morgane Abiven, Adrian Tempescul, Florence Dalbies, Jean-Richard Eveillard, Valérie Ugo, Stéphane Giraudier, Gaëlle Guillerm, Eric Lippert, Christian Berthou, Jean-Christophe Ianotto
The purpose of this study was to identify the incidence, causes and impact of non-adherence to oral and subcutaneous chronic treatments for patients with polycythemia vera or essential thrombocythemia. Patients receiving cytoreductive drugs for polycythemia vera or essential thrombocythemia were recruited at our institution ( Observatoire Brestois des Néoplasies Myéloprolifératives registry). They completed a one-shot questionnaire designed by investigators ( Etude de l'Observance Thérapeutique et des Effets Secondaires des Traitements study)...
April 2018: Haematologica
https://www.readbyqxmd.com/read/29222208/hypersomatotropism-induced-secondary-polycythaemia-leading-to-spontaneous-pituitary-apoplexy-resulting-in-cure-of-acromegaly-and-remission-of-polycythaemia-the-virtuous-circle
#11
Shinjan Patra, Sugata Narayan Biswas, Joydip Datta, Partha Pratim Chakraborty
A young man with subtle clinical features suggestive of hypersomatotropism presented with acute-onset severe headache. Relevant investigations confirmed polycythaemia and growth hormone (GH)-secreting pituitary macroadenoma with apoplexy. Secondary polycythaemia and myeloproliferative disorders were ruled out. At follow-up after 3 months, resolution of polycythaemia and acromegaly was observed, evident on normal haemoglobin levels, a normocellular marrow, and normal insulin-like growth factor-1 (IGF-1) with glucose-suppressed GH levels...
December 7, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29198260/management-of-late-presentation-congenital-heart-disease
#12
Parvathi U Iyer, Guillermo E Moreno, Luiz Fernando Caneo, Tahira Faiz, Lara S Shekerdemian, Krishna S Iyer
In many parts of the world, mostly low- and middle-income countries, timely diagnosis and repair of congenital heart diseases (CHDs) is not feasible for a variety of reasons. In these regions, economic growth has enabled the development of cardiac units that manage patients with CHD presenting later than would be ideal, often after the window for early stabilisation - transposition of the great arteries, coarctation of the aorta - or for lower-risk surgery in infancy - left-to-right shunts or cyanotic conditions...
December 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/29134817/the-bcr-abl1-negative-myeloproliferative-neoplasms-a-review-of-jak-inhibitors-in-the-therapeutic-armamentarium
#13
REVIEW
Martin Griesshammer, Parvis Sadjadian
The classical BCR-ABL1-negative myeloproliferative neoplasms (MPN) include primary myelofibrosis (PMF), polycythemia vera (PV) and essential thrombocythemia (ET). They are characterized by stem cell-derived clonal proliferation, harbor Janus kinase 2 (JAK2), or calreticulin (CALR), or myeloproliferative leukemia virus oncogene (MPL) driver mutations and exert an over activated JAK-signal transducer and activator of transcription (STAT) pathway. Therefore JAK inhibiting strategies have been successfully investigated in MPN clinical trials...
December 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/29090100/polycythaemia-secondary-to-hormone-replacement-therapy-with-tibolone
#14
Laura Staples, Tamara Milder, Philip Young-Ill Choi
We present the case report of a patient with severe polycythaemia associated with tibolone. In our 65-year-old postmenopausal patient who initially presented with haemoglobin 203 g/L [115-160] and haematocrit 0.63 [0.32-0.47], the cessation of tibolone, a synthetic hormone replacement therapy, led to a dramatic and sustained resolution of this patient's polycythaemia to normal haematological values. Tibolone possesses oestrogenic, androgenic, and progestogenic properties. Tibolone therapy may be an infrequently recognized contributor towards polycythaemia in postmenopausal patients presenting to haematology clinics...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29076129/the-mosaicc-study-assessing-feasibility-for-biological-sample-collection-in-epidemiology-studies-and-comparison-of-dna-yields-from-saliva-and-whole-blood-samples
#15
Glen James, Mary Frances McMullin, Andrew S Duncombe, Mike Clarke, Lesley A Anderson
Biological sample collection is becoming more common in epidemiology research to obtain DNA for genetic analysis. There are many different DNA collection methods but little evidence on their relative effectiveness. Therefore, we took the opportunity of a prospective case-control study in myeloproliferative neoplasms (MPNs) to compare DNA yield from 8.5 mL PAXgene tubes for whole blood collection versus 2 mL Oragene OG-500 saliva collection kits. MPNs include polycythaemia vera, essential thrombocythaemia, and primary myelofibrosis...
March 2018: Annals of Human Genetics
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
#16
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)...
February 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28971208/burden-of-aquagenic-pruritus-in-polycythaemia-vera
#17
Edyta Lelonek, Łukasz Matusiak, Tomasz Wróbel, Jacek Kwiatkowski, Jacek C Szepietowski
Aquagenic pruritus (AP) has a significant influence on quality of life (QoL) in patients with polycythaemia vera. This study analysed the impact of AP on patient well-being in 102 patients with polycythaemia vera. Intensity of pruritus was evaluated using a visual analogue scale (VAS), verbal rating scale (VRS) and a 4-item Itch Questionnaire. Psychosocial aspects of AP were assessed with the Hospital Anxiety and Depression Scale (HADS), EQ-5D and itch-specific QoL questionnaire (ItchyQoL). AP of mean duration 6...
February 7, 2018: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28946040/hif-2alpha-achilles-heel-of-pseudohypoxic-subtype-paraganglioma-and-other-related-conditions
#18
Sri Harsha Tella, David Taïeb, Karel Pacak
Paragangliomas (PGLs) belong to the most hereditary endocrine tumours. The existence of mutated HIF2A in these tumours, the role of oncometabolites on HIFs stabilisation and a recent concept proposing how hereditary PGLs converge on the hypoxia-signalling pathway, brought solid evidence of the existence of PGL hypoxiom. Hypoxia-inducible factor 2alpha (HIF-2α) antagonists -PT2385, and PT2399 have been shown to have promising results in the management of clear cell renal cell carcinoma by targeting the HIF-2α pathway in recent and ongoing clinical trials (PT2799)...
November 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28806110/-anteposition-in-malignant-hematologic-diseases-of-siblings-in-szabolcs-szatm%C3%A3-r-bereg-county-hungary-analysis-of-data-of-a-34-year-period
#19
János Jakó, László Szerafin
INTRODUCTION: In their previous works, the authors reported findings from familial hematologic malignancies in Szabolcs-Szatmár-Bereg county, Hungary. So far there are no other studies on this topic available in Hungary. AIM: Detailed analysis of epidemiologic features of hematologic malignancies of siblings. METHOD: During a 34-year period (between January 1, 1983 and December 31, 2016), 86 families with hematologic malignancies were recorded in Szabolcs-Szatmár-Bereg county...
August 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28798246/extramedullary-haematopoiesis-presenting-with-cardiac-tamponade-in-a-patient-with-polycythaemia-vera
#20
Faysal Haroun, Viktoria Elkis, Anne Chen, Elsie Lee
A 71-year-old man with a history of polycythaemia vera, diagnosed 4 years ago, presented to the emergency room with shortness of breath. A bedside echocardiogram revealed a large pericardial effusion with features concerning for pericardial tamponade. A left anterior thoracotomy and a pericardial window were emergently performed in the operating room and relieved the patient's symptoms. Histology evaluation of the pericardial fragments and pericardial fluid revealed the presence of trilineage haematopoietic elements without any increase in the blasts...
August 10, 2017: BMJ Case Reports
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