1/46. Inherited heterozygous protein c deficiency and dysfunctional protein S with recurrent venous thrombotic diseases: a study of three generations of a Japanese family.We describe a rare occurrence of a family affected with venous thrombosis, exhibiting a protein C (PC) deficiency and dysfunctional protein S (PS). The propositus and his father developed recurrent venous-thrombosis. Their PC deficiency was characterized by low levels of both antigen and activity, and their dysfunctional PS was suggested by low PS activities despite the presence of normal free PS antigen. Over three generations, six family members had a PC deficiency, and three had both a PC deficiency and a dysfunctional PS. The mode of inheritance of PC deficiency appears to be autosomal dominant.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
2/46. Chronic intestinal lymphocytic microphlebitis.The authors report two cases of a peculiar microphlebitis of the intestines, similar to that described by Saraga and Costa quite recently [5]. The patients had undergone hemicolectomy because of evolving ileus caused by cecal polyps or lipohyperplasia, respectively. Pseudomembranous-ulcerative inflammation of the cecum and variously intense lymphocytic infiltrates of numerous small submucosal veins and venules of the intestines were found in both cases. Thrombosis occurred very rarely in the affected vessels, although sometimes it was found in deeper and larger veins. arteries, lymphatics, mesenterial veins and lymph nodes were normal. Parts of the distal ileum and ascending colon displayed the phlebitic changes without mucosal alterations. The authors hypothesize that it was not the abnormal local circulation, but some hitherto not fully clarified immunological disorder that resulted in the disease. In contrast to the claim of Saraga and Costa [5], it is suggested that thrombosis of the small veins does not have a significant role in the development of the lesions, but a complex process that includes the entry of antigens via the altered mucosa followed by an immunogenic inflammatory response of the small veins is responsible for the pathogenesis.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
3/46. Combined inherited protein S and heparin co-factor II deficiency in a patient with upper limb thrombosis: a family study.A 42-year-old Italian woman presenting with spontaneous deep vein thrombosis of the right arm, was found to have inherited a deficiency of both protein S (PS) and heparin co-factor II (HC II). The two defects seemed to segregate independently, since her son exhibited only a HC II deficiency while one of her sisters manifested only the PS defect. All affected patients appeared heterozygous for one or other or both deficiency states. The proposita and her sister exhibited a congenital PS deficiency consisting of normal or near normal levels of total PS antigen and C4b-binding protein (C4b-BP) but a moderate reduction both of free PS antigen and of PS functional activity. In addition, the proposita and her son had half normal levels of HC II antigen and activity. Except for the proposita, all were asymptomatic. Inherited deficiencies either of PS or of HC II have been associated with thrombotic manifestations. Since the proposita had an inherited combined defect of the two proteins, severe thrombotic events might be expected. However, this was not found to be the case. The role of HC II deficiency in the pathogenesis of thrombosis whether alone or combined remains to be fully investigated.- - - - - - - - - - ranking = 1.5keywords = antigen (Clic here for more details about this article) |
4/46. Corneal autoimmunity in Cogan's syndrome? Report of two cases.Autoimmune reactivity against corneal antigens is described in two patients with Cogan's syndrome, a nonsyphilitic deep interstitial keratitis with vestibuloauditory symptoms. In both cases corneal antibodies were found at the beginning or during an exacerbation of the disease. After administration of high doses of corticosteroids the corneal antibodies diminished. Interstitial keratitis can generally be controlled by local or systemic corticosteroids. The effect of corticosteroid therapy on the audiovestibular symptoms is variable. The possibility of an autoimmune pathogenesis of Cogan's syndrome is discussed.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
5/46. Concurrent protein c deficiency and lupus anticoagulants.An inherited deficiency of protein C, a recognized hypercoagulable state, may cause a clinically significant deep venous thrombosis. Only some persons with a deficiency of protein C experience thrombosis, and almost always the thrombotic event occurs in the venous circulation. warfarin-induced skin necrosis, a rare event observed in some patients soon after treatment with warfarin is begun, is believed to be another manifestation of this deficiency. We describe a young woman whose basal functional and antigenic levels of protein C were about 45% and who experienced both deep venous thrombosis and warfarin-induced skin necrosis in a clinically severe course. Evidence for lupus anticoagulants was present, with prolonged activated partial thromboplastin time that was corrected when lysed platelets were added, prolonged russell's viper venom time, anticardiolipin antibodies, and other laboratory evidence. Lupus anticoagulants are associated also with a significant incidence of thrombosis, including arterial thrombosis, and this patient developed concurrently arterial thrombosis. The combined effects of protein c deficiency and lupus anticoagulants, exacerbated by other potentially thrombogenic conditions, are believed responsible for the severe thrombotic events experienced by this patient.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
6/46. Superficial thrombophlebitic tuberculide.BACKGROUND: Tuberculides are the result of immunologic reactions to hematogenously spread antigenic components of mycobacterium tuberculosis. There are three recognized tuberculides--papulonecrotic tuberculide, erythema induratum of Bazin, and lichen scrofulosorum. In 1997, in japan, Hara and coworkers reported five patients with what they called "nodular granulomatous phlebitis," which they proposed was a fourth type of tuberculide. We describe a patient who presented with features identical to those reported by Hara et al. in order to draw attention to the previous report and to support the concept of a fourth tuberculide which clinically resembles superficial thrombophlebitis. methods: A black South African man presented with cord-like thickening of superficial veins on the antero-medial aspects of the lower legs. Nodular swellings were palpable along the course of these veins. There was no evidence of tuberculosis elsewhere in the body, but the patient had a strongly positive tuberculin reaction. skin biopsies were performed for histologic examination, culture, and polymerase chain reaction (PCR). RESULTS: Histologic examination showed a granulomatous infiltrate localized to the veins in the subcutaneous fat. Stains for acid-fast bacilli and culture were negative, but PCR was positive for M. tuberculosis dna. The lesions responded promptly to antituberculous therapy. CONCLUSIONS: Our patient showed features identical to those of cases described by Hara and coworkers and assigned as a fourth type of tuberculide. As the lesions clinically resemble superficial thrombophlebitis, we propose the term "superficial thrombophlebitic tuberculide" rather than "nodular granulomatous phlebitis."- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
7/46. Bilateral adrenal infarction, hypoadrenalism and splinter haemorrhages in the 'primary' antiphospholipid syndrome.We describe a patient with a 3-year history of recurrent deep vein thromboses (DVT) of the lower limbs, who developed adrenal insufficiency following withdrawal of warfarin therapy. Multiple splinter haemorrhages of the nail beds were evident, simultaneous with the development of adrenal infarction in the absence of infective endocarditis. CT scans of the adrenal glands were consistent with bilateral adrenal infarctions. The patient had persistently high titres of IgG anticardiolipin antibodies (aCL) over the previous 4 years in the absence of antinuclear antibodies (ANA), antibodies to double stranded deoxyribonucleic acid (dsDNA) or extractable nuclear antigens (ENA). thrombocytopenia and an intermittently positive Coombs' test had been noted. Previous episodes of DVT were associated with inadequate warfarin control and a period of warfarin resistance. He conforms to a diagnosis of a 'primary' antiphospholipid syndrome.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
8/46. A new hereditary abnormal protein C (protein C Yonago) with a dysfunctional Gla-domain.A familial abnormal protein C most probably with the dysfunctional Gla domain was found in a 60-year-old man with recurrent thrombosis. Namely, the anticoagulant activity as measured by the APTT method and the antigen level by an ELISA utilizing a calcium-dependent antibody were reduced to nearly half of normal, 43.5% and 2.1 micrograms/ml (normal range: 2.8-5.0 micrograms/ml), respectively. On the other hand, the amidolytic activity determined on a synthetic chromogenic substrate, S-2366, and the total antigen measured by an ELISA utilizing a polyclonal antibody were both in the normal range, 74.1% and 83% of normal, respectively. Crossed immunoelectrophoresis showed more anodal migration than the normal control in the presence of calcium ions, and adsorption of protein C to barium citrate was insufficient. These data altogether indicated that a half population of protein C in the patient's plasma was dysfunctional in the Gla domain or its related structures. Four other members of his immediate family were found to have the same abnormality of protein C, although they had been all asymptomatic. We thus conclude that the dysfunctional protein C is hereditary, and that the abnormalities noted in several tests are most likely due to a structural defect residing in the Gla or its related regions. We hereby designate this abnormal protein C as protein C Yonago.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
9/46. warfarin induced dermatitis and venous thrombosis in a patient with protein s deficiency.A case of warfarin-induced dermatitis in a 79 year-old patient with protein s deficiency is described. Both total Protein S antigen and free Protein S were moderately reduced (about 50%). The skin lesion did not progress to frank necrosis and it was associated with elevated creatin phosphokinase (CPK) levels in plasma and with thrombosis of the anterior tibial vein localized to the area of dermatitis (probably warfarin-induced deep venous thrombosis). After warfarin withdrawal and beginning of heparin therapy, serum CPK rapidly normalized and the skin lesion improved.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
10/46. venous thrombosis and tissue plasminogen activator release deficiency: a family study.Thrombotic events are often due to fibrinolytic defects such as impaired tissue plasminogen activator (tPA) synthesis and/or release or increased plasminogen activator inhibitor (PAI) levels. In this report we describe four members of a family with a history of recurrent venous thrombosis, who demonstrated defective tPA release after dynamic tests. Two symptomatic patients and one asymptomatic individual showed absent or abnormally low tPA antigen (tPA:Ag) and activity (PA) increases after DDAVP infusion and/or 20 min of venous occlusion. In these patients PAI values were slightly higher than controls. A satisfactory tPA:Ag release was found in the fourth asymptomatic patient. All other coagulation tests were within the normal ranges. This familial defect of the fibrinolytic system seems to be inherited as an autosomal trait.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
| | Next -> |