Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.10.2 (focal adhesion kinase)
 44,029 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cerebral venous sinus thrombosis (CVST) requires anticoagulation to promote vessel recanalization. Current anticoagulation paradigms utilize plasma tests from peripheral venous/arterial samples for therapeutic monitoring. We describe a medically-refractory case of CVST in a 35-year-old woman later found to have JAK2 mutation and essential thrombocytosis. Despite therapeutic anticoagulation levels, worsening cerebral edema and progression to coma prompted endovascular treatment. Failed endovascular thrombectomy attempts led to placement of 2 separate indwelling microcatheters for continuous infusion of tissue plasminogen activator (tPA). Forty-hours of continuous-tPA in addition to systemic intravenous-heparin led to complete radiographic and clinical resolution of CVST. Whole blood coagulation testing using Rotational Thromboelastometry (ROTEM) from simultaneous samples taken intracranially (via cerebral microcatheters) and peripherally (via antecubital vein) all revealed prolonged intrinsic pathway activation clotting times consistent with heparin anticoagulation use. However, both intracranial ROTEM samples identified faster clotting times compared to the peripheral sample suggesting lower anticoagulation levels intracranially. Our findings were speculative and hypothesis generating as to whether this explained medical treatment failure. If there are coagulopathy differences at local sites of injury not adequately captured by peripheral blood draws, further investigation is required to identify better approaches to avoid under-treatment of similar cases.
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PMID:Endovascular Treatment of Cerebral Venous Sinus Thrombosis and Insights into Intracranial Coagulopathy. 3063 18

Polycythemia vera (PV) is a myeloproliferative disorder most commonly associated with JAK2V617F mutation. Cerebral venous sinus thrombosis (CVST) has a wide range of etiologies and PV is one of them. CVST associated with PV has a poor prognosis. Some patients with classical PV lack JAK2V617F mutation and the molecular basis of JAK2V617F-negative PV is not known. We hereby report a case of a young man who presented with headache, vomiting and altered sensorium and was found to have recurrent CSVT. The patient had primary polycythemia and was subsequently diagnosed to have JAK2-negative PV.
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PMID:Recurrent cerebral venous sinus thrombosis in a young man- A case report of JAK2-negative polycythemia vera. 3174 82