Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0149871 (deep vein thrombosis)
 12,364 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We systematically screened for the aetiology of thrombophilia in 115 patients with venous, arterial and small vessel thromboses. Forty-one patients (36% of those we examined) suffering from a variety of thromboses, including deep vein thrombosis, pulmonary embolism, arterial occlusion, cerebral infarction, Moyamoya disease and ulcerative colitis, were characterized either with positive lupus anticoagulants or with decreased activities of protein S, protein C, antithrombin III and/or plasminogen. Eight mutation sites were confirmed in 11 thrombotic patients using gene analysis. Decreased protein S activity was found with a high incidence (23 out of 115) in Japanese patients who suffered from not only venous thrombosis but also arterial and small vessel thrombosis. We emphasize here the important role of protein S in the pathogenesis of thrombosis in the Japanese population.
 ...
PMID:Screening for aetiology of thrombophilia: a high prevalence of protein S abnormality. 1045 3

The patient is a 35-year-old man who had a medical history of epilepsy in childhood. He came to our hospital because of transient disturbance of consciousness and left hemiplegia just after evacuation. At first, we thought that he had epilepsy with Todd's palsy. But we had to do a differential diagnosis for a transient ischemic attack such as paradoxical embolism, because his symptoms occurred just after evacuation. An electroencephalogram and brain computerized tomography were immediately performed, but no abnormality was detected. Hematologic studies were normal, and no deep vein thrombosis was detected in the veins of the lower extremities by duplex ultrasonography Doppler. But carotid duplex ultrasonography showed an increase in end-diastolic flow velocity and a decrease in vascular resistance in both external carotid arteries. These findings indicated that there was arteriovenous malformation such as moyamoya disease. Brain magnetic resonance imaging showed spotty high signal lesions in the subcortical areas on a fluid-attenuated inversion-recovery(FLAIR) image, and the middle cerebral artery was not visualized on magnetic resonance angiography (MRA). Cerebral angiography demonstrated moyamoya vessels in the brain and collateral circulation from the external carotid artery. Therefore, we diagnosed him as having moyamoya disease. Duplex ultrasonography of the common and, internal carotid, and vertebral arteries is a widely-used technique. Recently, cerebral angiography, MRA and transcranial Doppler have been applied to detect intracranial vascular malformation. But these results suggested that moyamoya disease could be detected by means of carotid duplex ultrasonography. Finally, we considered that carotid duplex ultrasonography was not only a noninvasive screening method but also a useful for the diagnosis of moyamoya disease.
 ...
PMID:[Usefulness of carotid duplex ultrasonography in a patient with moyamoya disease]. 1472 40

Although individuals with sickle cell disease (SCD) are at increased risk for stroke, the underlying pathophysiology is incompletely understood. Intracardiac shunting via a patent foramen ovale (PFO) is associated with cryptogenic stroke in individuals without SCD. Recent evidence suggests that PFOs are associated with stroke in children with SCD, although the role of PFOs in adults with stroke and SCD is unknown. Here, we report 2 young adults with SCD, stroke, and PFOs. The first patient had hemoglobin SC and presented with a transient ischemic attack and a subsequent ischemic stroke. There was no evidence of cerebral vascular disease on imaging studies and the PFO was closed. The second patient had hemoglobin SS and two acute ischemic strokes. She had cerebral vascular disease with moyamoya in addition to a peripheral deep venous thrombosis (DVT). Chronic transfusion therapy was recommended, and the DVT was managed with warfarin. The PFO was not closed, and the patients' neurologic symptoms were stabilized. We review the literature on PFOs and stroke in SCD. Our cases and the literature review illustrate the dire need for further research to evaluate PFO as a potential risk factor for stroke in adults with SCD.
...
PMID:Patent foramen ovale in patients with sickle cell disease and stroke: case presentations and review of the literature. 2395 92