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)

Twenty-four patients presenting an acute stroke with watershed cerebral infarct on CT scan or MRI were included in this retrospective study. Age was 63 +/- 14 years (mean +/- SD), and sex ratio was 2 men for 1 woman. Main clinical features were: in anterior location, lower limb weakness and frontal syndrome with transcortical motor aphasia in left lesions or spatial dyscalculia in right ones; in posterior location, brachiofacial weakness with constant quadranopsia and hypoesthesia, and Gerstmann syndrome in left lesion. There was no distinctive feature for subcortical and multiple infarcts. In bilateral infarcts, there were one pseudobulbar syndrome, and 2 pseudo brainstem syndromes with neuropsychological signs. Aetiologies were severe carotid artery disease in 14 cases, severe cardiopathy in 6, isolated cerebral angiitis in 1, essential thrombocythemia in 1, protein C deficiency with sickle cell disease in 1, and cholesterol emboli in 1 anatomical case. CBF performed in carotid artery occlusions or tight stenoses showed evidence of haemodynamic changes. Microembolic process can be proposed in the case with cholesterol emboli. Preventive treatment is discussed.
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PMID:Watershed cerebral infarcts: retrospective study of 24 cases. 135

110 cases of neurinomas of the VIIIth with APC extension (104 patients) were studied using MRI or CT. Classically, it is said that the tumoral mass is centered on the IAC. In our study, among 110 cases of neurinomas, only 9 were centered along the axis of IAC on axial slices and only 23 on coronal slices. The anterior development of the tumor is never more than 1 cm, except in 3 cases of large and multicystic neurinoma. We suggest that the anterior development of large tumors is limited by the VIIth nerve.
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PMID:[Relations between neurinoma of the VIII cranial nerve and the porus of the internal auditory meatus. Apropos of 110 cases]. 178 30

A 23-year-old man was admitted because of vomiting and severe, progressive headache. After admission, he suffered from a generalized clonic seizure, and developed right hemiparesis. Contrast-enhanced CT of the brain showed empty delta sign in the posterior part of the superior sagittal sinus and filling defect in the straight sinus. T2-weighted MRI demonstrated high intensity area in the left parieto-occipital subcortical region. Delayed venous phase of the right carotid angiography confirmed the diagnosis of thrombosis of the superior sagittal sinus. Coagulation studies gave a protein C activity of 35.3% (normal range 55-140%), protein C antigen of 45% (normal range 70-150%). Same results were obtained from the studies of his father and one of his sisters, indicating hereditary protein C deficiency. We started warfarin therapy under the administration of heparin for a week, then he has been followed up with no subsequent problems.
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PMID:[Cerebral sinus thrombosis in a young man with hereditary protein C deficiency]. 829 11

Salicylates increase the risk of hemorrhage. An ischemic brain infarct has not previously been described following intoxication with salicylates. Case report. A 58-year-old comatose patient was admitted with symptoms of a basilar artery thrombosis. A diagnostic angiography was impossible because laboratory results showed a prothrombin time (Quick) of 9% and a toxic salicylate level of 528 mg/l. During the next few days CCT and MRI scans revealed ischemic infarctions within the brain stem. Discussion. Salicylates can induce hemorrhage both by inhibiting platelet aggregation and - especially in higher doses - by vitamin K antagonism, leading to severe coagulopathy. The occurrence of an ischemic infarction, as presented in this case report, can be explained by a reduction of the vitamin K-dependent protein C level.
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PMID:[Cerebral infarct in chronic acetylsalicylic acid poisoning]. 868 14

The authors report about a patient with thrombosis of the transverse and sigmoid sinus who also suffered from multiple pulmonary embolism and deep leg vein thrombosis. The etiologic factor was a deficiency of the free (unbounded) and total protein S. The cerebral sinus thrombosis was diagnosed by MRI and angio-MRI. The first 4 weeks the patient was treated with heparin and later with phen-procoumon. The plasma protein S serves as a cofactor for protein C and plays an important role in the anticoagulation. Deficiencies of these proteins are either hereditary with an autosomal dominant trait or acquired in patients with severe hepatic diseases and coagulation disorders.
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PMID:[Cerebral thrombophlebitis, sural phlebitis, pulmonary embolisms and protein S deficiencies]. 920 1

A diagnosis of moyamoya disease was made in three children aged five, eight and 13 years (including two Turkish sisters). Clinical presentation was recurrent episodes of cerebral ischemia and stroke. CT scans and MRI showed infarcts in various distributions. Angiography revealed anterior bilateral stenosis of the circle of Willis and development of Moyamoya collateral pathways. In one case there was coagulopathy with protein C deficiency. To increase transdural collateral flow, revascularisation with encephalo-duro-arterio-synangiosis was attempted in all three children. Outcome was clinically and angiographically satisfactory and none of the children developed further neurological complications. The current state of study on Moyamoya disease is also presented.
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PMID:[Moyamoya disease: advantage of early diagnosis and survival treatment. Review of three cases]. 1058 42

A 15-year-old woman with a history of transient dysarthria two years before, suddenly developed weakness of right upper extremity, right facial palsy, and dysarthria. She was admitted to our hospital on the third day. She had no hypertension, heart murmur and oedema. On neurological examination, she had mild right hemiparesis including face muscles and mild dysarthria. The right knee jerk was brisk with no Babinski's sign. Ataxia and sensory disturbance were not present. T2-weighted MRI showed a hyperintensity at the posterior limb of the left internal capsule. Cerebral angiography was unremarkable. Ultracardiography and 24-hour electrocardiography were normal. Laboratory data revealed no inflammatory findings, liver dysfunction, hyperglycemia and hyperlipidemia. Antinuclear and anticardiolipin antibodies were negative. Prothrombin time was normal, but activated partial thromboplastin time was slightly prolonged (35.4 sec, normal 25.2-34.4). Protein C, protein S and antithrombin III were normal. Heparin cofactor II (HC II) activity was decreased (44%) with normal HC II antigen (79%) and so she was diagnosed as heparin cofactor II deficiency type II (heparin cofactor II abnormality). Her father manifesting thromboangitis obliterans also had low HC II activity with normal HC II antigen. However, on her genetic analysis, we didn't detect any mutations in the coding region of HC II gene. Until now she has no recurrence of cerebrovascular attacks. On the basis of these results, we suspect that HC II deficiency was a possible risk factor of cerebral infarction in this case because she was so young and had no general risk factors except for HC II. No stroke associated with HC II deficiency type II has been reported up to date. This case is worth considering etiologies of juvenile cerebral infarction.
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PMID:[Juvenile cerebral infarction associated with heparin cofactor II abnormality. A case report]. 1096 62

A pregnancy with fetal homozygous protein C deficiency was complicated in the third trimester by fetal ventriculomegaly, intraorbital thrombosis and placental infarcts, which could be imaged by combined use of ultrasonography and MRI.
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PMID:Antepartum findings in fetal protein C deficiency. 1101 5

Desmoid tumours (DT) are slow-growing tumours that consist of proliferations of well-differentiated fibroblasts. Although the typical characteristics of malignant tumours, such as distant metastases, are absent, the tumours are locally aggressive and grow into neighbouring structures. The prevalence of desmoid tumours in patients with FAP is 7-12%. The lifetime risk of developing desmoid tumours is about 20%. In FAP, most tumours are intra-abdominal or located in the abdominal wall. Next to colorectal cancer, desmoid tumours are the most frequent cause of death in FAP. Possible risk factors for the development of desmoid tumours are previous surgical procedures, pregnancy, female sex, a family history of desmoid tumours, and specific mutations in the APC-gene. Both CT scanning and MRI can be used to detect the tumours. An excision biopsy is needed to establish the diagnosis. Medicinal treatment with NSAIDs is the treatment of first choice, followed by hormonal treatment (e.g., tamoxifen) in combination with NSAIDs. Both forms of treatment lead to a response in about 30-50% of the patients. Surgery is the preferred treatment for extra-abdominal tumours or tumours located in the abdominal wall. Surgical treatment of intra-abdominal tumours is only indicated in patients with obstruction of the bowel or ureter. Chemotherapy is indicated in patients with progressive desmoid tumours when non-cytotoxic treatment has failed. Radiotherapy may play a role in the treatment of irresectable extra-abdominal or abdominal wall tumours, or as adjuvant treatment of tumours with positive margins.
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PMID:[Desmoid tumors in patients with familial adenomatous polyposis]. 1216 72

A-38-year-old man suddenly developed nausea, vomiting and vertigo during chiropractic neck manipulation. This was followed by right hemiplegia, right deep sensory disturbance and left hypoglossal nerve palsy, consistent with the medial medullary infarction (Dejerine syndrome). The MRI revealed infarction at left medial part of the medulla. The vertebral angiogram and MRA showed marked narrowing of the left vertebral artery. X-rays of the cervical spine showed no spondylosis, dislocation nor osteolysis of the odontoid process. The serological studies, including lupus anticoagulant, protein C, and protein S gave normal results. Although vascular accidents involving the brain stem after chiropractic neck manipulation have been reported since Pratt-Thomas and Berger, previous reports are still rare. In them lateral medullary infarction (Wallenberg syndrome) is probably the most common case. On the other hand, medial medullary syndrome (Dejerine syndrome) is absolutely rare. To our knowledge, the only one report has been made by Watanabe and his colleagues before our present case. The mechanism was suggested that rotation and tilting of the neck stretches and compresses the vertebral artery at the cervical joint causing injury to the vessel, with an intimal tearing, dissection, and pseudoaneurysm formation. Consequently, the present case may be caused by injury to the left vertebral artery with an intimal tearing during neck manipulation sufficient to cause disection and subsequent infarction of the brain stem.
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PMID:[The medial medullary infarction (Dejerine syndrome) following chiropractic neck manipulation]. 1268 91


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