Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038454 (stroke)
 147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We observed 40 patients aged from 15 to 40 years who suffered either a transient ischemic attack or an arterial ischemic stroke. All patients were clinically and physically examined, i.e. chest-X rays, electrocardiograms, biological tests and C.T. scan or magnetic resonance imaging that confirmed the diagnosis of ischemic cerebral infarction. Most patients underwent echocardiography and angiography. The time span between the onset of the ischemic event and angiography was recorded. A few of them had CSF analysis and determinations of antithrombin III, protein C and protein S. The etiology was confirmed in 15 patients (5 cardioembolic diseases, 7 vasculopathies, 3 coagulopathies). Twenty three had well-known vascular risk factors, but also an increase in serum fibrinogen concentration, which might have been associated with specific predisposing factors: oral contraceptives, patent foramen ovale, migraine, craniocervical trauma, acute alcohol intoxication and infectious diseases. No cause was found in 2 patients. We suggest a practical approach and highlight the value of angiography when performed early in the course of the illness to enhance the percentage of positive diagnosis. About 45 p. 100 of the patients followed-up (mean duration: 3 years) were unable to resume normal professional activity.
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PMID:[Cerebral ischemic arterial accidents in young adults. 40 cases]. 802 69

Protein C and protein S deficiencies increase the risk of venous thrombosis and pulmonary embolism, but their role in arterial thrombosis or embolism is controversial. We describe cerebral ischemia in two young women in a family with inherited deficiencies of both proteins C and S and provide evidence that a combined deficiency of proteins C and S may be a high risk factor for ischemic stroke in young adults.
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PMID:Deficiency of both protein C and protein S in a family with ischemic strokes in young adults. 803 22

A 13-year-old male presented with new onset seizures, sagittal sinus thrombosis with cerebral hemorrhage, and extensive venous thrombosis of the lower limbs. Laboratory investigation demonstrated combined deficiency of protein C, protein S, and antithrombin III. He and his 17-year-old sister had a mental retardation-multiple anomaly syndrome associated with microcephaly, unusual facies, and lax connective tissue. Their dysmorphology included elongated faces with narrow forehead, arched eyebrows, large mouth with down-turned corners, malformed teeth, and furrowed tongue. Both had Marfanoid habitus with lax joints, pectus excavatum, kyphoscoliosis, and flat narrow feet. The most likely diagnosis for these siblings is the autosomal recessive Cohen syndrome of mental retardation, congenital hypotonia with Marfanoid habitus, microcephaly, pleasant affect, micrognathia, and open mouth with prominent incisors. The sagittal sinus thrombosis, left frontal intracranial hemorrhage, carotid aneurysm, tortuous descending aorta, and deep venous thrombosis suffered by the male sibling adds the Cohen syndrome to genetic vasculopathies that may be associated with stroke.
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PMID:Multiple coagulation defects and the Cohen syndrome. 806 42

A poor anticoagulant response to activated protein C (APC) in an activated partial thromboplastin time (aPTT) assay (APC resistance) was recently reported to be a cause of familial thrombophilia. The response to APC was measured in 30 patients suffering from juvenile or recurrent stroke, in 40 patients suffering from venous thromboembolism and in 50 healthy subjects. The prevalence of APC resistance was found to be significantly higher among patients with stroke (20%, P < 0.003) and venous thrombosis (17.5%, P < 0.02) compared with the prevalence of APC resistance among normal controls (2%). In one case of venous thrombosis, the proposita's family (A) could be investigated and in five out of nine investigated members (56%) a poor or borderline response to APC was detected. The family (B) of another APC-resistant patient revealed six subjects with poor coagulation response to APC out of eight family members studied (75%). Measuring protein S activity with an automated calcium-thromboplastin-based protein S activity assay, a significant correlation (P < 0.0001) between the results of this functional protein S assay and APC resistance (represented by the ratio (Rs value) of clotting time with and without addition of activated protein C) was observed. Nine out of 14 patients (64%) with poor APC response showed protein S activities below the normal range. Assessment of protein S activity with a second protein S clotting assay using factor Va as substrate confirmed only 47% of the decreased levels of the thromboplastin-based protein S clotting assay.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:The prevalence of poor anticoagulant response to activated protein C (APC resistance) among patients suffering from stroke or venous thrombosis and among healthy subjects. 760 83

The annual incidence of cerebrovascular disease in children is 2.5/100,000 and cerebral infarction is being increasingly recognised in neonates. Deficiency of proteins C and S and their roles in thrombosis have only recently been recognised. Immunologic and functional assays of these proteins now make it possible to determine whether deficiency of them is associated in any particular case of childhood cerebrovascular accident (CVA). We describe two patients, both presenting with stroke in childhood, who were found to be deficient, one in protein C and one in protein S.
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PMID:Protein C and S deficiency causing childhood stroke. 823 61

Results obtained in three patients with juvenile ischemic stroke and criteria of primary antiphospholipid syndrome is reported. These patients are selected out from a series of 12 patients with 18-mounts follow-up. Lupic anticoagulant and anticardiolipin antibodies were found in two of three patients and one patient show anticardiolipin antibodies with negative lupic anticoagulant. All others coagulation proteins examined (antithrombin III, plasminogen, protein C and protein S) were normal. We conclude that antiphospholipid antibodies are associated with increase risk of thrombosis. Therefore should be systematically investigated in juvenile ischemic stroke of unknown aetiology.
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PMID:[Primary antiphospholipid syndrome in juvenile ischemic stroke]. 824 Aug 35

Protein S circulates either free or bound to C4b-binding protein (C4b-BP). Only free protein S possesses cofactor activity for protein C, a physiologic anticoagulant. Deficiencies of either protein C or protein S are associated with increased thrombotic risk. Over a 23-month period, 40 patients with low free protein S were identified. Eight of these patients were found to have suffered a stroke. This study examined the relationship between total S, free S, and C4b-BP in 15 healthy adult volunteers, in 20 patients with normal protein S levels, in 40 patients with decreased free protein S levels, and in 8 patients with combined low free S levels and stroke. Total and free protein S and C4b-BP levels were determined using the method of Laurell. In healthy adults, free protein S increased with increasing total protein S (r = 0.60). In patients with normal free S, the total S level increased as C4b-BP increased (r = 0.74), and the free S level remained constant. In patients with low free S, total S did not increase with increasing C4b-BP. In stroke patients, the correlation between free S and total S was actually negative (r = -0.449). Evaluation of dissociation constants for the protein S-C4b-BP complex revealed enhanced binding in patients with low levels of free protein S. A non-C4b-BP protein S binding protein, a previously undescribed regulatory factor which modulates S binding to C4b-BP, or shifts in the amount of non-protein S binding C4b-BP are possible explanations of these results.
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PMID:Protein S and C4b-binding protein levels in patients with stroke: implications for protein S regulation. 827 19

A 27-year-old woman suffered from a sudden onset of slight paralysis of the right side of her body and the inability to express herself by speech, writing, or signs. She was admitted to the National Rehabilitation Hospital in Washington, D.C., in the US. 6 months prior to these events, she had been in a motor vehicle accident and had since experienced headaches and generalized musculoskeletal pain. The only drug she took was an oral contraceptive (OC), which she took irregularly. Health workers could not arouse her upon admission. Clinical examination revealed symptoms consistent with a left hemispheric stroke. Cerebral computed tomography and magnetic resonance imaging revealed a left temporoparietal infarct. Her free protein S was only 27% on admission and 14% 11 days after admission (normal range, 55-125%). Over the next 72 hours, her physical condition deteriorated, entailing focal motor seizures, right Babinski's sign, loss of pain reflex response on her right side, and complete paralysis of the right side of her body. The left middle cerebral artery appeared to be constricted, which physicians first believed was caused by vasculitis but later found was the result of emboli. The patient developed right femoral vein deep thrombosis. The physicians treated her initially with heparin and followed with warfarin therapy. Nevertheless, embolus. Health workers placed a filter in her inferior vena cava and continued warfarin therapy. She did not experience any more thrombotic or embolic episodes during the rest of her hospital stay. OCs reduce circulating levels of free protein S which, along with activated protein C, inhibits clotting. OCs likely reduced her already existing low levels of free protein S. Deficiency of free protein S was likely responsible for the cerebral infarction and her thrombotic and embolic episodes.
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PMID:A case of cerebral infarction in association with free protein S deficiency and oral contraceptive use. 823 70

A decrease in levels of circulating anticoagulant protein C has been shown to occur following autologous BMT, and this deficiency may contribute to a hypercoagulable state placing patients at risk for thromboembolic events. We report four patients who suffered a variety of thrombotic complications following BMT (non-bacterial thrombotic endocarditis, superior vena cava thrombosis, thrombotic stroke, purpura fulminans, small bowel infarction secondary to diffuse microvascular thrombosis), which were preceded by or temporally related to decreased levels of protein C. Treatment with fresh frozen plasma (FFP) led to slight, temporary increases in protein C levels but infusions of FFP did not prevent either death or extension of the thrombus in these four cases, suggesting the need for higher protein C doses and/or concomitant anticoagulation. Though no direct causal relationship between these thrombotic complications and the protein C deficiency can be proved, a generalized hypercoagulable state caused by protein C deficiency may have contributed to the development, severity or progression of these complications.
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PMID:Thrombotic complications of BMT: association with protein C deficiency. 843 11

The carbohydrate-deficient glycoprotein syndromes are a recently individualized group of genetic multisystemic disorders. A predominant feature is a severe involvement of the central and peripheral nervous system resulting in psychomotor retardation, seizures, ataxia, and, mostly after infancy, stroke-like episodes. The hallmark biochemical feature is a carbohydrate deficiency in a large number of serum glycoproteins. Because coagulation factors and inhibitors are also glycoproteins, we performed a systematic study of these factors and inhibitors in nine patients with carbohydrate-deficient glycoprotein syndrome. All showed a decreased activity of factor XI and of the coagulation inhibitors antithrombin III and protein C. In five of seven patients more than 1 y old, there was also a (less pronounced) decrease of protein S and of heparin cofactor II. This combined coagulation inhibitor deficiency could explain the stroke-like episodes occurring in these children.
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PMID:A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome. 851 Oct 30


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