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https://www.readbyqxmd.com/read/29285836/disease-and-treatment-characteristics-of-polycythaemia-vera-patients-in-belgium-results-from-a-scientific-survey
#1
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 pre-defined disease parameters and treatment strategies to characterize the polycythaemia 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 analysed descriptively and quantitatively RESULTS: Data from 343 PV patients were collected. Of these, 174 (50.7%) were male and 256 (74.6%) were ≥60 years of age...
December 29, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29285835/the-boy-with-the-ruddy-face-an-approach-to-polycythaemia-presenting-in-childhood
#2
Joyce Ching Mei Lam, Sally Campbell, Chris Barnes
No abstract text is available yet for this article.
December 29, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/29279598/secondary-polycythaemia-in-a-malay-girl-with-homozygous-hb-tak
#3
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
#4
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-cytoreductive-and-or-antithrombotic-drugs-is-frequent-and-associated-with-increased-risk-of-complications-in-patients-with-polycythaemia-vera-or-essential-thrombocythaemia-ouest-study
#5
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 sub-cutaneous chronic treatments for patients with polycythaemia vera or essential thrombocythaemia. Patients receiving cytoreductive drugs for polycythaemia vera or essential thrombocythaemia were recruited at our institution (Observatoire brestois des néoplasies myéloprolifératives registry). They completed a one-shot questionnaire designed by investigators (étude de observance thérapeutique et des effets secondaires des traitements study)...
December 15, 2017: 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
#6
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
#7
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
#8
Martin Griesshammer, Parvis Sadjadian
The classical BCR-ABL1-negative myeloproliferative neoplasms (MPN) include primary myelofibrosis (PMF), polycythaemia vera (PV) and essential thrombocythaemia (ET). They are characterized by stem cell-derived clonal proliferation, harbour Janus kinase 2 (JAK2), or calreticulin (CALR), or myeloproliferative leukaemia 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...
November 14, 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/29090100/polycythaemia-secondary-to-hormone-replacement-therapy-with-tibolone
#9
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
#10
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...
October 27, 2017: 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
#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/28971208/burden-of-aquagenic-pruritus-in-polycythaemia-vera
#12
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...
October 3, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28946040/hif-2alpha-achilles-heel-of-pseudohypoxic-subtype-paraganglioma-and-other-related-conditions
#13
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)...
September 22, 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
#14
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
#15
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
https://www.readbyqxmd.com/read/28732065/direct-targets-of-pstat5-signalling-in-erythropoiesis
#16
Kevin R Gillinder, Hugh Tuckey, Charles C Bell, Graham W Magor, Stephen Huang, Melissa D Ilsley, Andrew C Perkins
Erythropoietin (EPO) acts through the dimeric erythropoietin receptor to stimulate proliferation, survival, differentiation and enucleation of erythroid progenitor cells. We undertook two complimentary approaches to find EPO-dependent pSTAT5 target genes in murine erythroid cells: RNA-seq of newly transcribed (4sU-labelled) RNA, and ChIP-seq for pSTAT5 30 minutes after EPO stimulation. We found 302 pSTAT5-occupied sites: ~15% of these reside in promoters while the rest reside within intronic enhancers or intergenic regions, some >100kb from the nearest TSS...
2017: PloS One
https://www.readbyqxmd.com/read/28710306/ruxolitinib-treatment-in-an-infant-with-jak2-polycythaemia-vera-associated-budd-chiari-syndrome
#17
Mehmet Enes Coskun, Sue Height, Anil Dhawan, Nedim Hadzic
Budd-Chiari syndrome (BCS) is caused by hepatic venous outflow obstruction commonly seen with myeloproliferative neoplasms (MPNs). Polycythaemia vera (PV) is a very rare MPN in childhood. This is the youngest reported patient diagnosed with PV and BCS secondary to JAK V617F mutation.A 26-month-old girl was admitted with a 5-month history of abdominal distension, hepatosplenomegaly and ascites. Imaging studies revealed occlusion of the right hepatic vein and marked attenuation of the middle and left hepatic veins...
July 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28659202/-polycythaemia-in-a-patient-with-uterus-myomatosus
#18
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/28623191/renal-capillary-haemangioma-associated-with-renal-cell-carcinoma-and-polycythaemia-in-acquired-cystic-disease
#19
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
#20
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...
October 2017: Clinical Radiology
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