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)

Veno-occlusive disease (VOD) is one of the severe complications of the liver, which may occur after hematopoietic stem cell transplantation (HSCT). Although an early diagnosis is important to initiate antithrombotic therapy before serious organ failure, the widely used clinical criteria only become clinically fulfilled at an advanced stage of disease. Liver biopsy provides useful findings for the diagnosis of VOD, however, in the later or less severe stages of VOD liver biopsy may provide false-negative sampling error because the biopsy sample may be too small to evaluate the whole liver. In addition it may be difficult to follow the clinical course with repeat biopsy in individual cases. Imaging diagnosis of VOD including gray-scale US, Doppler US, and MRI have been reported as convenient and useful. Color-Doppler US is superior because of its specificity and sensitivity. Blood sampling tests including factor VII, protein C, N-terminal propeptide for type III procollagen (P-III-P) and hyarulonic acid have predictive value, and their measurement may simply be another way to evaluate early hepatic impairment. Since no optimal treatment for VOD has been established as yet, the prophylaxis of VOD or early initiation of treatment is important. These new diagnostic approaches for VOD may provide a direction to resolve the clinical problems of VOD such as the time of initiation of therapy, the therapeutic regimen of choice, and the cessation of therapy.
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PMID:Recent progress in the diagnosis and therapy for veno-occlusive disease of the liver. 1268 38

We report a case of bilateral adrenal vein thrombosis in an adult female who had a history of breast cancer. The patient does not have clinical, serological or imaging evidence of metastatic disease 14 months from the initial diagnosis. Adrenal vein thrombosis is a rare entity. There have been no previous reports specifically stating an association between adrenal vein thrombosis and hypercoaguability, but there are many cases in the literature documenting venous thrombosis elsewhere within the body in patients with hypercoaguable states. Laboratory testing performed to exclude a hypercoaguable state, revealed heterozygosity for the Factor V Leiden mutation/activated protein C resistance and elevated factor VIII levels [3660 IU l(-1) (<1500)]. This is the first reported case of bilateral metachronous adrenal vein thrombosis in which MRI established the diagnosis.
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PMID:MRI diagnosis of bilateral adrenal vein thrombosis. 1289 1

Over a 5-year period, we investigated 77 consecutive patients (36 males, 41 females, mean age 40.9 years) referred to our hospital with the diagnosis of CNS vasculitis. Extensive workup including MRI, echocardiography, laboratory tests, angiography ( n=53), and biopsies at appropriate sites ( n=26) was performed based on individual history and symptoms. Prominent symptoms were stroke ( n=61), encephalopathy ( n=14), and headaches ( n=2). Vasculitis was finally diagnosed in 13 patients (17%) including isolated angiitis of the CNS ( n=3), giant cell arteritis ( n=4), and septic arteritis ( n=3). Thirty-two patients (42%) presented noninflammatory vasculopathies including moyamoya ( n=6), Sneddon's syndrome ( n=5), dissection ( n=4), CADASIL ( n=2), and collagen vascular disease ( n=9). Coagulopathy was found in 14 cases (18%) including antiphospholipid syndrome ( n=8) and APC resistance ( n=4). Other causes were cardiogenic embolism ( n=8), multiple sclerosis ( n=5), and migraine stroke ( n=3). Only a minority of patients referred for evaluation of suspected CNS vasculitis actually present with inflammatory vascular disease. Main differential diagnosis includes noninflammatory vasculopathies, coagulopathies, and cardiac disease. Since septic processes may be responsible for the symptoms, "blind" treatment with immunosuppressive agents should be strictly avoided.
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PMID:[Diagnosis and differential cerebral vasculitis diagnosis]. 1477 Feb 79

Migraine is a common and chronic disorder. It is considered benign but several studies have suggested it as a rare risk factor for ischaemic stroke. The association is still conflicting and seems to be restricted to particular subgroups of patients (i.e., women under the age of 45, with migraine with aura, and particularly ones who smoke and use oral contraceptives). The pathogenetic mechanisms underlying this condition are not known. We describe 6 cases of migrainous stroke fully meeting the diagnostic criteria of the International Headache Society (IHS). For each patient, demographic and anamnestic data, clinical features, results of laboratory tests and neuroimaging findings were recorded. Five of the 6 cases were women (median age of 29, range from 23 to 40). The man was 36. All patients fulfilled the IHS criteria for migraine with aura. At the time of the event, 2 patients were taking oral contraceptives and smoked, one patient smoked and three patients had no vascular risk factors. The stroke manifested as homonymous hemianopia in 3 patients, lower homonymous quadrantopia in 1 patient and sensory symptom in 1 patient. The neurological examination was normal in 1 case. All patients underwent several tests with negative results: blood test (antithrombin III, protein C or S, autoantibodies), transthoracic and transoesophageal echocardiography, extracranial and intracranial Doppler sonography, and angiography which was not performed in 1 patient. All patients had a cerebral infarct visible on neuroimaging study (MRI): posterior cerebral artery in 4, middle cerebral artery in 1 and anterior cerebral artery in 1. We support the findings reported by others that migrainous stroke is more common in young women affected by migraine with aura. In consideration of the high prevalence of migraine in the population, further research is indicated and necessary to establish if migraine is independent from other vascular risk factors.
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PMID:Migrainous cerebral infarction: case reports. 1554 69

We report clinical findings, risk factors and neurological and cognitive long-term outcome in three Italian children aged 7, 8 and 5, respectively, who experienced cerebral venous sinus thrombosis (CVST). All children presented with headache, associated to nausea, vomiting and papilloedema. None suffered from epileptic seizures. In two of them a paresis of the sixth cranial nerve with diplopia was found. Diagnosis was confirmed by magnetic resonance imaging angiography (angio MRI) in all cases. In all patients plasma levels of protein C, protein S, antithrombin III (AT III), antiphospholipid antibodies (ApA) and homocysteine were detected. Furthermore, factor V Leiden mutation, prothrombin mutation G20210A and MTHFR mutation were searched for. A Protein C reduction was detected in all patients at onset; this finding, however, was not confirmed at follow-up in all of them. At one-year follow-up, neurological examination was normal in all children and neuropsychological assessment, aimed at excluding linguistic and non-linguistic cognitive deficits, revealed normal performances in two of them. In the third child, cognitive assessment confirmed a previously diagnosed developmental dyslexia.
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PMID:Cerebral venous sinus thrombosis in childhood: clinical aspects and neurological and cognitive long-term outcome in three cases. 1562 88

Desmoid tumours are rare neoplasms of fibroblastic origin which arise with disproportionate frequency in patients with familial adenomatous polyposis (FAP). They are thought to develop in about 10-25% of FAP patients and may be the leading cause of death amongst those who have undergone colectomy. Risk factors include trauma, having a distal germline APC mutation, having a family history of desmoids, and probably oestrogens. In very high-risk individuals there may be a case for delay of colectomy or chemoprophylaxis at the time of surgery. Desmoids are now known to be true neoplasms but with normal telomere length and telomerase activity. FAP-associated tumours seem to carry biallelic APC mutations, one of which lies in the distal part of the gene. Such loss of wild-type APC seems to occur relatively late in tumour development. It is likely that beta-catenin plays an important role in tumourigenesis. FAP-associated desmoids tend to arise in the abdomen or abdominal wall. CT scanning gives the best information on tumour anatomy whilst T2-weighted MRI indicates likely behaviour. Treatment may simply consist of observation. Otherwise, usual first-line therapy is with sulindac with or without an anti-oestrogen. Cytotoxic chemotherapy is an option in unresectable tumours. Surgery is a reasonable first-line treatment in abdominal wall tumours but is risky for intra-abdominal tumours and may necessitate massive small bowel resection. Desmoids are the greatest remaining challenge in the management of FAP and further research into their aetiology needs to be combined with multicentre clinical trials of new treatments in order to improve management of the disease.
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PMID:Current ideas in desmoid tumours. 1699 73

We report the case of a 28-year-old woman who presented simultaneously with superior sagittal sinus thrombosis and thyroid crisis, and was subsequently found to have protein C deficiency. February 3, 2003, she admitted complaining of abdominal pain. The diagnosis of appendicitis was made, and she was operated on under lumbar anaesthesia. Day 7, she developed acute headache and distal weakness of the left lower limb. On examination she was alert, with a temperature of 38 degrees C, a sinus tachycardia of 124/min and blood pressure 164/84 mmHg. Neurological examination revealed neck stiffness and left hemiparesis, predominantly in her lower limb. Gadlinium-enhanced brain MRI revealed extensive superior sagittal sinus thrombosis. CT scan demonstrated infarction in the right frontal cortex, and subarachnoid hemorrhage adjacent to the right cerebellar tentorium. The patient was treated with a free radical scavenger edarabon, and glycerin. No anticoagulant therapy was instituted. Over the next 24 hours, her condition worsened. She became comatose, as well as developing a generalized tonic-clonic seizure. Day 12, laboratory examinations revealed an undetectable TSH-level CTSH (thyroid stimulating hormone) <0.005 mcIU/ml), with a level of free thyroxin 7.77 ng/dl (0.9-1.7), free triiodothyronin 29.6 pg/ml (2.3-4.3), and positive anti-TSH receptor antibodies determined subsequently. Coagulation factor VIII activity was 155% (normal range 60-150). Protein C deficiency (antigen 59%, activity 49%) was also present, suggesting a congenital type I heterozygous deficiency. A diagnosis of thyroid crisis on the basis of Graves' disease was made. The patient remained comatose and died on Day 16, with renal failure. The patient had protein C deficiency, a well-established risk factor for cerebral venous thrombosis (CVT). However, additional risk factors are required in most cases to precipitate CVT. In our case, this trigger was most likely thyroid crisis, suggesting that thyrotoxicosis, probably through hypercoagulability, may be a predisposing factor for the development of CVT.
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PMID:[Thyroid crisis and protein C deficiency in a case of superior sagittal sinus thrombosis]. 1737 Jun 53

The authors report a case of partial thrombosis of a corpus cavernosum, confirmed by MRI imaging. In this patient, a neuroleptic had been prescribed several days before the thrombosis and the clotting assessment demonstrated protein C resistance. Conservative management comprising low molecular weight heparin and aspirin was instituted. Three months later, pain had resolved and signs of a thrombotic scar persisted on MRI. The aetiology of thrombosis of the corpus cavernosum, a rare disease, remains unknown. Neuroleptic therapy has been incriminated. In the light of this case, the authors emphasize the value of systematic clotting assessment.
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PMID:[Partial thrombosis of the corpus cavernosum. Must a clotting disorder be systematically investigated?]. 1763 4

We are reporting a 36 year-old woman, gravid 3, para 1, aborta 2, who was 18 weeks pregnant and developed a sudden onset of motor aphasia and hemiparesis on the right side. On the initial visit to our hospital, the NIH stroke scale was 6, and the brain MRI revealed high intensity areas in the left insular cortex and the periventricular white matter with occlusion of the left middle cerebral artery (MCA) branches. We diagnosed her as having cerebral embolism, and treated with intravenous recombinant tissue plasminogen activator (rt-PA) with subsequent recanalization of the occuluded left MCA branches. Her motor aphasia and hemiparesis disappeared within a few hours of initiating the therapy. She received aspirin for four months and then heparin until delivery to prevent recurrence. She delivered a healthy term infant without any apparent complications. An 18-week pregnancy itself is not considered a risk factor of stroke, and we ruled out the possibilities of dysfibrinogenemia, homocysteinemia, hereditary or acquired deficiencies of protein C, protein S, and antithrombin III deficiencies, and antiphospholipid antibody syndrome. However, her plasma factor VIII level was significantly elevated to more than 200% (reference for 18-week pregnant woman: 151 +/- 44%), which may have led to her acquired activated protein C resistance or hypercoagulability. As safety of thrombolytic therapy with rt-PA during pregnancy has not been established, this therapy could be carefully used upon due consideration of risks and benefits for both mother and fetus.
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PMID:[Intravenous recombinant tissue plasminogen activator in an 18-week pregnant woman with embolic stroke]. 2053 80

Melatonin demonstrates neuroprotective properties in adult models of cerebral ischemia, acting as a potent antioxidant and anti-inflammatory agent. We investigated the effect of melatonin in a 7-d-old rat model of ischemia-reperfusion, leading to both cortical infarct and injury in the underlying white matter observed using MRI and immunohistochemistry. Melatonin was given i.p. as either a single dose before ischemia or a double-dose regimen, combining one before ischemia and one 24 h after reperfusion. At 48 h after injury, neither a significant reduction in cortical infarct volume nor a variation in the number of TUNEL- and nitrotyrosine-positive cells within the ipsilateral lesion was observed in melatonin-treated animals compared with controls. However, a decrease in the density of tomato lectin-positive cells after melatonin treatment was found in the white matter underlying cortical lesion. Furthermore, we showed a marked increase in the myelin basic protein-immunoreactivity in the cingulum and in the density of mature oligodendrocytes (APC-immunoreactive) in both the ipsilateral cingulum and external capsule. These results suggest that melatonin is not able to reduce cortical infarct volume in a neonatal stroke model but strongly reduces inflammation and promotes subsequent myelination in the white matter.
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PMID:Melatonin promotes myelination by decreasing white matter inflammation after neonatal stroke. 2085 66


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