Journal ArticleDOI
JAK2 V617F mutation associated with cerebral venous thrombosis: a report of five cases.
Gaëlle Godeneche,N. Gaillard,Lydia Roy,A. Mania,S. Tondeur,Jean-Claude Chomel,T. Lavabre,Caroline Arquizan,Jean-Philippe Neau +8 more
TLDR
A 55-year-old woman with hypothyroidism treated by replacement therapy was admitted with a 4-week history of a progressively worsening unusual headache unimproved by analgesia and biological screening revealed that the hematocrit rate and hemoglobin level were elevated suggesting a PV.Abstract:
Case 1 A 55-year-old woman with hypothyroidism treated by replacement therapy was admitted with a 4-week history of a progressively worsening unusual headache unimproved by analgesia. She complained of nausea and a progressive bilateral decrease in visual acuity. Neurological examination was normal except for bilateral hemorrhagic papilledema. CT scan and multimodal MRI demonstrated a CVT of the superior sagittal sinus and right transverse sinus. Her biological screening revealed that the hematocrit rate and hemoglobin level were elevated (56% and 18 g/l, respectively) suggesting a PV. Red cell mass was increased (59.4%) while serum erythropoietin level was decreased, suggesting an absolute erythrocytosis related to a primary PV. The JAK2 V617Fread more
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Journal ArticleDOI
JAK2 V617F mutational frequency in essential thrombocythemia associated with splanchnic or cerebral vein thrombosis.
Valerio De Stefano,Elena Rossi,Tommaso Za,Angela Maria Ciminello,Silvia Betti,Claudia Luzzi,Giuseppe Leone,Patrizia Chiusolo +7 more
TL;DR: In ET the risk of venous thrombosis associated with the JAK2 V617F mutation preferentially targets splanchnic or cerebral veins in young patients, and this mutation is present in a relevant percentage of patients with SVT and without an overt chronic MPN.
Journal ArticleDOI
Tirofiban for acute ischemic stroke: systematic review and meta-analysis
TL;DR: Tirofiban seems to be safe in systemic treatment and may represent a potential choice for management of AIS, however, intra-arterial administration requires further adequately controlled studies in order to develop an appropriate protocol, similar to that in cardiology.
Journal ArticleDOI
Janus kinase (JAK) 2 V617F mutation in Asian Indians with cerebral venous thrombosis and without overt myeloproliferative disorders.
TL;DR: It is concluded that the JAK2V617F mutation could contribute to increased risk of CVT in Indians and larger studies in other ethnic populations are warranted before considering the inclusion of the Jak2 V617F gene polymorphism into the routine diagnostic workup of CVt.
Journal ArticleDOI
Cerebrovascular events as presenting manifestations of Myeloproliferative Neoplasm.
E. Ong,F. Barraco,Norbert Nighoghossian,A. Praire,Virginie Desestret,Laurent Derex,A. Vighetto,D. Biotti +7 more
TL;DR: Stroke revealing MPN is rare, but careful attention should still be paid to blood counts even in patients with obvious stroke etiologies, as early diagnosis permits prompt treatment and decreases the risk of recurrence, thus limiting morbidity and mortality.
Journal ArticleDOI
Cerebral venous thrombosis due to essential thrombocythemia and worsened by heparin-induced thrombocytopenia and thrombosis
TL;DR: Elevated basal platelet count due to ET can delay diagnosis and treatment of HIT, and physicians should be more attentive to platelet number variations rather than thrombocytopenia threshold.
References
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Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.
E. Joanna Baxter,Linda M. Scott,Peter J. Campbell,Clare L. East,Nasios Fourouclas,Soheila Swanton,George S. Vassiliou,Anthony J. Bench,Elaine M. Boyd,Natasha Curtin,Michael A. Scott,Wendy N. Erber,Anthony R. Green,Anthony R. Green +13 more
TL;DR: A single acquired mutation of JAK2 was noted in more than half of patients with a myeloproliferative disorder and its presence in all erythropoietin-independent erythroid colonies demonstrates a link with growth factor hypersensitivity, a key biological feature of these disorders.
Journal ArticleDOI
Prognosis of Cerebral Vein and Dural Sinus Thrombosis: Results of the International Study on Cerebral Vein and Dural Sinus Thrombosis (ISCVT)
TL;DR: A subgroup of clinically identifiable CVT patients is at increased risk of bad outcome and may benefit from more aggressive therapeutic interventions, to be studied in randomized clinical trials.
Journal ArticleDOI
Cerebral venous thrombosis: an update
TL;DR: In this paper, the authors used MRI with T1, T2, fluid-attenuated inversion recovery, and T2* sequences combined with magnetic resonance angiography to diagnose cerebral venous thrombosis.
Journal ArticleDOI
Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms.
Ayalew Tefferi,James W. Vardiman +1 more
TL;DR: In 2008, the World Health Organization (WHO) treatise on the classification of hematopoietic tumors lists chronic myeloproliferative diseases (CMPDs) as a subdivision of myeloid neoplasms that includes the four classic myelopathological disorders (MPDs)-chronic myelogenous leukemia, polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), as well as chronic neutrophilic leukemia (CNL), chronic eos
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The myeloproliferative disorders.
TL;DR: The legacy of this discovery of an identical mutation of the JAK2 gene in patients with polycythemia vera, essential thrombocythemia, and myelofibrosis is reviewed.