Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022116 (ischemia)
 91,303 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This study prospectively evaluates hypercoagulable states in patients under 51 years of age undergoing lower extremity revascularization for ischemia and assesses early outcome after operation. Twenty patients whose ages range from 23 to 50 years (mean 40.8 years) were identified prospectively who underwent lower extremity revascularization and evaluation of hypercoagulability. Fifteen patients were male (75%), 10 were black (50%), six had hypertension (30%), and four were diabetic (20%). All but two were cigarette smokers (90%). Seven aortoiliac procedures and 13 infrainguinal procedures were performed. Six patients had one or more abnormalities of regulatory proteins (protein S deficiency, four; protein C deficiency, three; presence of lupus-like anticoagulant, three; plasminogen deficiency, two). Eight of 17 patients in whom platelet aggregation profiles were obtained showed increased reactivity (47%). Only 4 of 17 patients (24%) were normal when tested for all parameters. Arterial or graft thrombosis developed in four of the 20 patients within 30 days after operation. Hypercoagulability was found in all four patients whose revascularizations failed. A high incidence of hypercoagulable states was found in patients under 51 years of age with lower limb ischemia requiring revascularization. Hypercoagulability may have contributed to early postoperative thrombosis of the vascular procedure.
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PMID:Hypercoagulable states and lower limb ischemia in young adults. 252 8

A retrospective community-wide survey identified 109 patients younger than 40 years of age with lower extremity ischemia: 72 men and 37 women, mean age 36 years (range 25 to 40 years), black-to-white ratio-1:1. Initially, 66 patients had claudication and 43 had severe ischemia. Cardiovascular risk factors were smoking (85%), hypertension (47%), coronary artery disease (30%), hyperlipidemia (27%), diabetes (25%), and visceral arteriopathy (17%). Unique risk factors included hypercoagulability (15%) and clinical arterial hypoplasia (15%). Twenty-three (21%) patients were treated medically; 74 (68%) underwent primary revascularization and 12 (11%) primary major limb amputation. Forty-six (53%) patients required secondary procedures, of which 34 (74%) were performed within 1 year of primary intervention. A total of 29 (27%) patients ultimately required amputation (10 bilateral). Women had higher prevalence of diabetes (p < 0.01), arterial hypoplasia (p < 0.05), and tendency for more severe ischemia (p = 0.11). No racial differences in severity of symptoms or outcome of treatment were found. By multiple logistic regression analysis, typical cardiovascular risk factors did not predict severity of symptoms, need for surgical treatment, or outcome. However, diabetes was associated with tissue loss (p < 0.05) and primary amputation (p < 0.001). Further, adjusted odds ratios indicate that arterial hypoplasia had a protective effect on distal vasculature (p < 0.05) and predicting need for revascularization (p < 0.05), but not on treatment failure. Hypercoagulability had the highest predictive value for presence of severe ischemia (p < 0.05), need for primary amputation (p < 0.01), and early failure of surgical treatment (p < 0.05).
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PMID:Lower extremity ischemia in adults younger than forty years of age: a community-wide survey of premature atherosclerotic arterial disease. 817 42

Ischemic colitis is the most frequent form of intestinal ischemia and arises when the colon is temporarily deprived of blood supply. Diagnosis of this entity requires a high index of clinical suspicion. To achieve this, the chronology of the symptoms (abdominal pain followed by defecatory urgency and rectorrhagia) and the clinical context in which these symptoms appear (> 90% affect persons especially at risk for vascular accidents) must be taken into account. Although diagnosis requires early colonoscopy (< 48 h), this procedure should not be performed if peritonitis is present. In severe forms, other imaging techniques, such as Doppler ultrasound or abdominal computed tomography, provide information with diagnostic -and even prognostic- value. Angiography is reserved for patients in whom there is doubt about the presence of acute mesenteric ischemia. Thrombophilia should be investigated in persons aged less than 60 years old.
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PMID:[Diagnostic approach to ischemic colitis]. 1719 42

The authors report a case of fatal stroke due to thrombosis of a cerebral arteriovenous malformation (AVM) in a young patient. The patient presented with a progressive severe headache that had lasted for a few days, followed by a rapid deterioration in the level of consciousness. Computed tomography and magnetic resonance imaging were immediately performed, and the images showed a large area of venous ischemia in the left hemisphere as well as a left temporal pial AVM. An emergency decompressive craniectomy was unsuccessful in preventing deterioration in the patient's condition. An autopsy examination revealed a thrombosed AVM leading to a wide area of venous ischemia and massive brain swelling. Thrombophilia investigations identified a heterozygous mutation at position 20209 of the prothrombin gene, a recently reported rare prothrombotic defect. Acute neurological decline after spontaneous thrombosis of an intracranial AVM is rare, and an association with the prothrombin defect in this patient is likely.
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PMID:Fatal spontaneous thrombosis of a cerebral arteriovenous malformation in a young patient with a rare heterozygous prothrombin gene mutation. Case report. 1733 May 43

The prevalence of mesenteric venous thrombosis has increased over the past 2 decades with the routine use of contrast-enhanced computed tomography (CT) in patients presenting with abdominal pain and those with portal hypertension. Concurrent with increasing recognition, routine and frequent use of anticoagulation has reduced the need for surgical intervention and improved outcome in these patients. Acute thrombosis often presents with abdominal pain, whereas chronic disease manifests either as an incidental finding on CT or with features of portal hypertension. Contrast-enhanced CT diagnoses about 90% of cases. The presence of collateral circulation and cavernoma around a chronically thrombosed vein differentiates chronic from acute disease. The superior mesenteric vein is often involved, whereas involvement of the inferior mesenteric vein is rare. Associated portal venous thrombosis can be seen if the disease originates in the major veins instead of the small vena rectae. Thrombophilia and local abdominal inflammatory conditions are common causes. Management is aimed at preventing bowel infarction and recurrent thrombosis. Anticoagulation, the mainstay of management, has also been safely used in patients with cirrhosis and portal hypertension. This review discusses the pathogenesis of thrombosis of mesenteric veins, the diagnosis and differentiation from arterial ischemia, the emergence of the JAK2 (Janus kinase 2) sequence variation as a marker of thrombophilia and myelodysplastic neoplasms, and new anticoagulants. Algorithms for the management of acute and chronic mesenteric venous thrombosis are provided to help readers understand and remember the approach to the management of acute and chronic mesenteric venous thrombosis.
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PMID:Mesenteric venous thrombosis. 2391 Apr 20

Thromboembolic disease and obstetric complications related to ischemia of the placenta are currently the major causes of maternal mortality and morbidity. Thrombophilia been implicated in their aetiology and the magnitude of the risk depends on the type of thrombophilia. As the evidence is still unclear and controversial, questions about the clinical management of pregnant women with thrombophilia are a daily issue. We aim to review, bearing in mind the consensus and controversies, the impact of inherited thrombophilia in the risk of thrombosis related to pregnancy and of obstetric complications. Moreover, the diagnostic, preventive and therapeutic approach during pregnancy and puerperium, including the role of antithrombotic pharmacopoeia available, will be discussed.
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PMID:[Hereditary thrombophilia and pregnancy: thrombotic risk and pregnancy outcome]. 2353 96

Hypercoagulability is a well-documented and prominent risk factor for venous thromboembolism. The role of thrombophilia in arterial thrombotic events is less well defined. A 52-year-old male patient with multiple atherogenic risk factors was admitted for non-healing pedal ulcer and absent distal pulses. Based on the clinical presentation, Doppler ultrasound and angiography findings, the patient underwent elective in situ bypass arterial reconstruction. The saphenous vein graft was of satisfactory quality and the procedure went routinely. Acute graft thrombosis on postoperative day 0 was recognized immediately and prompted an emergent surgical revision. No technical errors or anatomical/mechanical causes for failed reconstruction were found and the graft was successfully thrombectomized using a Fogarty balloon-catheter. Graft rethrombosis, however, ensued after several hours. Considering the absence of threatening limb ischemia and the idiopathic recurrent thrombosis, raising suspicion of prothrombotic state, conservative treatment was pursued. Postoperative thrombophilia testing proved positive for activated protein C resistance, mandating introduction of chronic oral anticoagulation. Six months later, the operated extremity is viable. Inexplicable vascular graft thrombosis, particularly if early and recurrent, should raise suspicion of underlying thrombophilia. If confirmed by laboratory testing, long-term secondary antithrombotic prophylaxis may be required.
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PMID:Vascular graft thrombosis secondary to activated protein C resistance: a case report and literature review. 2355 Feb 6

Thrombosis contributes to morbidity and mortality in neonates following cardiac surgery. Alterations in hemostatic factors following cardiac surgery have been described, but there is no data correlating these changes with risk of thrombosis in neonates. The aim of this study is to predict thrombosis in neonates undergoing cardiac surgery by assessment of a panel of hypercoagulability markers. Neonates undergoing cardiac surgery were enrolled preoperatively and prospectively followed. Preoperative hypercoagulability panel testing included thrombin generation assay (TGA), immunoassays for antithrombin III, protein C, protein S, factor VIII, thrombin-activatable fibrinolytic inhibitor (TAFI), plasminogen activator inhibitor-1 (PAI-1), and cardiolipin antibody. Postoperative thrombosis was defined by clinical events (shunt thrombosis, limb ischemia, and stroke) or imaging (intravascular or intracardiac thrombus). Risk factors for thrombosis were assessed. One hundred neonates were enrolled in the study over a two-year period. The incidence of postoperative in-hospital thrombosis was 20%. The only significant clinical risk factor associated with thrombosis was the single ventricle physiology. Hypercoagulability factors associated with increased risk of thrombosis by univariate analysis were elevated PAI-1, TAFI, and TGA, and presence of anticardiolipin antibodies. Multivariable logistic regression analysis demonstrated that elevated PAI-1 (P = 0.015), TAFI (P = 0.028), and TGA (P = 0.007) were independent predictors of thrombosis. Hypercoagulability panel testing may help identify neonates at high risk for thrombosis following cardiac surgery. Future studies are warranted to determine if high risk patients benefit from targeted anticoagulation therapies.
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PMID:Hypercoagulability panel testing predicts thrombosis in neonates undergoing cardiac surgery. 2412 21

Thrombophilia is associated with increased risks of venous thrombosis in women taking oral contraceptive preparations. Universal thrombophilia screening in women prior to prescribing oral contraceptive preparations is not supported by current evidence. The case is presented of a 23 year-old women with a personal history of interruption and on the same day started with oral contraceptive (0.03 microg ethynil estradiol - 0.075 microg gestodene), which due on a 18 pill/day to acute headache, increasing vomiting and speaking defects. Physical/neurologic/gynecologic examinations observed a normal status. The MRI and CT revealed thrombosis of the left internal jugular vein and brain ischemia with cerebral infarction and ischemic stroke. The acute therapy of thrombotic findings was accompanied with many tests. The thrombophilia PCR-Real time - test finds heterozygous carrier of the Factor V (Leiden). This case shows the need of large prospective studies that should be undertaken to refine the risks and establish the associations of thrombophilias with venous thrombosis among contraceptive users. The key to a prompt diagnosis is to know the risk factors. The relative value of a thrombophilia screening programme before contraceptive using needs to be established.
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PMID:[A clinical case of young, oral combined contraceptive using women, heterozygous carrier of the Factor V (Leiden) which revealed thrombosis of the left internal jugular vein and brain ischemia with cerebral infarction and ischemic stroke]. 2450 70