Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.4.21.69 (APC)
 16,337 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Meningitis and meningococcal sepsis are emergency conditions associated with high mortality. The outcome is worsened by the onset of disseminated intravascular coagulation. This may present, particularly in children, with the clinical picture of purpura fulminans, characterized by extensive necrotic-hemorrhagic skin lesions, ischemia of the extremities and multiorgan failure. It has been observed that depletion of coagulation inhibitors, particularly protein C, plays a key role in the development of this severe complication. We describe the case of a woman who presented in the Emergency Room with signs of meningitis, drowsiness, hypotension and petechie. Bacterioscopic examination of the cerebrospinal fluid evidenced characteristic gram-negative diplococci. Laboratory data disclosed initial disseminated intravascular coagulation with low levels of proteins C and S. Following intravenous infusion of antibiotics, fluids and fresh frozen plasma, the patient's condition rapidly improved. However, multiple skin lesions appeared on her fingers, toes and heels. It is likely that the infusion of coagulation inhibitors contained in fresh frozen plasma, prevented evolution to full-blown purpura fulminans. The first choice treatment for purpura fulminans in meningococcal sepsis is infusion of protein C concentrate, which is not, however, currently available on the market.
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PMID:[Meningococcal meningitis in the adult complicated by cutaneous necrosis: description of a clinical case]. 1120 31

A 35-year-old healthy male with no history of any past medical illness developed severe headache, vomiting and drowsiness while at high altitude (4,572 m) in the eastern Himalayan ranges. He was evacuated to a tertiary-care hospital where he was diagnosed to have cerebral sinus venous thrombosis (CSVT) on magnetic resonance imaging, with deep vein thrombosis (DVT) of his right popliteo-femoral vein on color Doppler study. Investigation for thrombophilia revealed protein S (PS) deficiency in this patient. Family screening revealed low levels of PS in two elder brothers. One brother had a history of 'stroke in young' at the age of 20 years with the other being asymptomatic. This established the hereditary nature of PS deficiency. We are not aware of any previously published report on hereditary PS deficiency combined with CSVT and DVT occurring at high altitude. However, 1 case of protein C deficiency with CSVT has been reported previously.
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PMID:A case of hereditary protein S deficiency presenting with cerebral sinus venous thrombosis and deep vein thrombosis at high altitude. 1843 8

We report a patient with combined thrombophilia--protein C deficiency and mild hyperhomocysteinemia with total spontaneous thrombosis of a basilar tip aneurysm after subarachnoid hemorrhage, without neurological deficit. At admission, the patient had headache, drowsiness, and nausea, with no neurological deficit. Computed tomography (CT) did not show the presence of subarachnoid blood, and magnetic resonance examination revealed discrete remains of a subarachnoid hemorrhage in projections of temporal, frontal and occipital lobes, with no vascular abnormalities. Initial angiography showed a small basilar tip aneurysm and the patient was scheduled for endovascular treatment. A second angiography, performed before the planned endovascular treatment, did not show the aneurysm and complete thrombosis was suspected. A follow-up angiogram, 6 months after this event, showed preserved posterior cerebral circulation with no aneurysm present. The patient was discharged in good condition, without neurological deterioration. We did not find any previous reports of similar conditions.
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PMID:Spontaneous thrombosis of basilar artery aneurysm after subarachnoidal hemorrhage in a patient with thrombophilia and recurrent deep venous thrombosis. 2054 47