Homozygous G20210A transition in the prothrombin gene associated with severe venous thrombotic disease: two cases in a French family.
Explore the source record for details and available documents.
3' Untranslated Regions↗
Biomedical subjects
A Watel
Publications and source records attributed to A Watel.
Homozygous variant of antithrombin with lack of affinity for heparin: management of severe thrombotic complications associated with intrauterine fetal demise.
Patients with homozygous heparin-binding-site (HBS) qualitative antithrombin deficiencies are at significant risk of venous and arterial thrombosis. We report on the eighth case of homozygous HBS deficiency, and the fourth case concerning the Arg 47-Cys mutation. The proposita is a 25 year old, without known thrombotic antecedent, despite an oral contraceptive therapy for 7 years. After 25 weeks of a first pregnancy, she presented an intrauterine fetal demise complicated with deep vein thrombosis and pulmonary embolism. Heparin therapy was inefficient (no clinical nor angiographic improvement, no biological hypocoagulability). Heparin cofactor activity was < 10%, antigen concentration was normal. The crossed immunoelectrophoresis of patient's plasma, with and without heparin, showed a typical profile of qualitative HBS antithrombin deficiency. The molecular analysis revealed an homozygous Arg 4-Cys mutation. Antithrombotic therapy was achieved with continuous infusion of antithrombin concentrates (80 IU/kg/day) and unfractionated heparin (500 IU/kg/day) during 12 days, leading to clinical improvement, and followed by treatment with vitamin K antagonists. This observation emphasizes the risk of intrauterine fetal demise and the inefficiency of heparin therapy without antithrombin infusion in type II HBS homozygous deficiency. The management of a future pregnancy will probably require repeated infusions of antithrombin.
Adult↗
Detection of monocyte tissue factor after endotoxin stimulation: comparison of one functional and three immunological methods.
Monocyte procoagulant activity is mainly due to tissue factor (TF) expression, but functional assays may not be sufficiently accurate in clinical use, making useful a determination of TF antigen level. The aim of this study was to compare the results of one functional and three immunological TF assays (ELISA, immunocytochemical staining on slides and flow immuno cytometric analysis), in normal monocytes, after standardized stimulation by endotoxin. TF expression was determined in blood mononuclear cells isolated by gradient centrifugation and cultured, with or without various concentrations of endotoxin. On lysed cells, TF activity was determined by amidolytic assay and TF antigen level was determined, after triton extraction, by ELISA (Imubind, American Diagnostica). Mouse monoclonal antibody against TF (4508, American Diagnostica) was used for 1) immunocytochemical (ICC) staining on cytocentrifuge slides (Avidine-Biotine-peroxidase-Complex revelation) and 2) flow cytometric analysis using indirect labeling (Fab'2 Fluoresceine Isothyocyanate revelation). The determination of TF activity and TF antigen by ELISA method were equally sensitive to low concentration of endotoxin (0.005 EU/ml) and well correlated in the presence of higher concentrations of endotoxin. ICC led to a qualitative detection with a similar sensitivity to endotoxin stimulation. Flow cytometric analysis was poorly sensitive to increasing stimulation of monocytes. Of note, the functional, ELISA and immunocytochemical assays for monocyte TF expression were sensitive to endotoxin concentrations as low as 0.005 EU/ml.
Adult↗
[Prosthetic duplication of the ascending aorta].
A simple implantation technique for multiple bypass of the ascending aorta with cervico-encephalic and infradiaphragmatic targets is reported. A conduit made by termino-terminal suture of two bifurcated grafts is anastomosed latero-laterally to the ascending aorta. The procedure is easy to perform and provides a suitable trajectory to the grafts.
Aged↗
Coupled D dimer and fibrinogen levels during thrombolytic therapy of venous thromboembolism.
Explore the source record for details and available documents.
Adolescent↗
[Hemostasis anomalies and prognosis during severe infectious purpura in children. Retrospective study in 69 cases].
In 69 children with severe infectious purpura (SIP), anomalies of hemostasis on admission were studied retrospectively. Forty-four children presented with disseminated intravascular coagulation (DIC) and 18 with factor VII deficiency +/- thrombocytopenia +/- antithrombin III deficiency. Seven patients were free of hemostasis anomalies. In 5 children, purpura was necrotic on admission, whereas in 9 additional patients skin necrosis occurred subsequently (5 patients with and 4 without DIC). Among the 18 children (26%) who died, 16 were in the DIC group. Factors II and V, fibrinogen and platelet counts were lower in children who died and were correlated with the prognostic score. In the DIC group, however, factor VII + X level was not correlated with the prognostic score and was equally low in fatal and non-fatal cases. Antithrombin III level was markedly decreased in patients who subsequently developed necrosis. These results indicate that factor VII level decreases early in the course of SIP and that consumption of physiologic coagulation inhibitors probably plays a central part in the development of necrotic purpura.
Adolescent↗
End-to-side aortoprosthetic anastomoses: long-term computed tomography assessment.
Fifty-two asymptomatic patients underwent routine computed tomographic evaluation of aortobifemoral bypass grafts implanted end-to-side on the aorta five to 10 years after operation. Anteroposterior diameters were measured at the level of the stem and the limbs of the graft, the aortoprosthetic anastomosis, and the infraanastomotic aorta. The stems of the prostheses were found to be dilated between 30 and 110% (mean 58%) of initial values. The limbs of the graft were dilated between 15 and 150% of initial values, the mean being 52%. The anteroposterior diameter of the aortoprosthetic anastomosis measured between 27 and 48 mm with a mean of 32 mm. Eight patients (15%) had an anastomotic false aneurysm. The aorta distal to the prosthetic anastomosis was completely occluded in 48 cases (92%). A mural thrombus was encountered at the level of the aortoprosthetic anastomosis in 21 (40%) patients. These findings raise questions as to the possible role of side-to-end aortoprosthetic anastomoses in the genesis of anastomotic dilatations, false aneurysms, intraprosthetic thrombosis, and thrombosis of the branches of aortofemoral bifurcation prosthetic grafts.
Adult↗
Distinctive features of procoagulant response of monocytes from diabetic patients.
The procoagulant activity (PCA) of disrupted monocytes was examined in 32 diabetic patients (26 with insulin-dependent and 6 with non-insulin-dependent diabetes) versus 30 control subjects. Diabetes monocytes exhibited a weak PCA before any incubation, associated in 10 cases with a significant amount of factor VII activity. Incubation led to a significant rise in PCA in diabetes cells, when stimulated with lipopolysaccharide or not, and in control cells only after stimulation. In incubated diabetes cells, PCA was prothrombinase-like when factor VII was associated with the freshly isolated cells, and tissue factor-like (as in the controls) when no factor VII was associated with the cells. The characteristics of PCA were not correlated with clinical features or with the type of diabetes. Our study suggests that diabetes monocytes exhibit a higher level of PCA than control ones, possibly corresponding to an in vivo stimulation, or at least a higher responsiveness to stimuli occurring in vitro.
Adult↗
[Durability of the Carpentier-Edwards porcine bioprosthesis in aortic or mitral positions. 10 years' results on 458 surgically treated cases].
458 patients with a Carpentier-Edwards porcine bioprosthesis (aortic (Ao): 169, mitral (Mi): 289) operated between January 1975 and December 1981, were studied during the first trimester of 1987. Forty seven patients underwent an associated operation. The total follow-up was 3,001 patient-years with a maximum follow-up of 11.4 years and a mean follow-up of 6.5 years. Only 5.6% of patients were lost to follow-up. The patients were aged between 20 and 80 years. The actuarial 9-year survival rate was 69.2 +/- 6.3% for aortic prostheses and 79.6 +/- 3.9% for mitral prostheses. The principal cause of valve failure, appearing with a considerable frequency after 5 years, was primary tissue degeneration which alone represented 67.8% of the causes of valve failure. The rate of absence of valve failure, for all causes combined, was 77.8 +/- 5.9% for the aortic position and 74.9 +/- 4.9% for the mitral position. The actuarial rate of absence of primary tissue degeneration at 9 years was 79.7 +/- 4.1% for aortic prostheses and 75.2 +/- 4.4% for mitral prostheses. The frequency of tissue degeneration decreased with increasing age, representing 2.9%, 1.9% and 1.5% patient-years respectively for the age-groups: 20 to 39 years, 40 to 59 years and 60 to 80 years. However, this difference was not statistically significant. Tissue degeneration was the principal cause for reoperation (n = 59) with an operative mortality of 7.8%.
Actuarial Analysis↗
Cytological and ultrastructural assessment of free crystals or precipitates associated with pseudoleukocytosis and pseudothrombocytosis in cryoglobulinemia.
In 3 patients with cryoglobulinemia (case 1: type I: cases 2 and 3: type II) spurious leukocyte and platelet counts were seen using automatic particle counters, with up to 2.5X and 3X counts for leukocytes and platelets respectively, with peculiar volume histograms. All these anomalies were absent with manual counting and were still evident in warmed blood samples from 1 of the 3 patients. The corresponding blood smears showed numerous deposits, rectangular in the type I cryoglobulinemia and flake-like in the other two (type II) patients, responsible for the erroneous automatic counting. Ultrastructural study showed in cases 2 and 3 they consisted of dense amorphous protein clusters; and in case 1, a periodic disposition of hollow rods (each with 21-24 nm external diameter). Comparison with ultrastructure descriptions of isolated cryoglobulins from the literature showed that crystals made of hollow rods might be preferentially associated with monoclonal GK immunoglobulin. Close scrutiny of histograms from automatic cell counters and stained blood films is necessary to detect falsely elevated counts in patients with cryoglobulinemia, and in the management of suppressive therapy.
Adult↗
Persistent sciatic artery: case report, anatomy, and review of the literature.
We report the case of a 64-year-old woman with an aneurysm of a left persistent sciatic artery presenting with arterial insufficiency from distal embolization. Treatment was exclusion of the aneurysm and femoropopliteal bypass after distal embolectomy with a Fogarty balloon catheter. We reviewed 71 cases in the literature to define characteristics of this anomaly which has many synonyms: including persistent sciatic artery, persistent axial artery, ischiopopliteal trunk. The persistence of the sciatic portion of the embryonic dorsal axial artery and failure of development of anastomoses with the ventral femoral network results in the anomaly. The persistent sciatic artery was "complete" in 75% of cases. In this configuration, it arises from the internal iliac artery, leaves the pelvic cavity through the lower part of the greater sciatic foramen caudad to the pyriformis muscle, reaches the posterior compartment of the thigh and continues as the popliteal artery. In 35% of cases, the artery is aneurysmal with a pulsatile mass in the buttock or a complication of the aneurysm. Arteriography required for diagnosis of the mass leads to discovery of the anomaly in many cases. The treatment of choice is exclusion followed by femoropopliteal vein bypass.
Aneurysm↗
Lupus anticoagulant: a clinical and laboratory study of 100 cases.
The clinical and laboratory features of 100 patients with lupus anticoagulant (LA) are reviewed. Subjects were divided into three groups according to their age (1-5, 15-35, 45-89 years). Female prevalence was observed in each group and overall F/M ratio was 3/1. An underlying autoimmune disease (principally lupus erythematosus) was found in 47 cases (10% of the children, 80% of the 15-35-year-old patients and 37% of the elderly patients). Biological criteria for the LA diagnosis were prolonged activated partial thromboplastin time and diluted thromboplastin time (1.3 x control), not corrected after addition of control to patient's plasma. Thromboplastin time was normal in 77 patients. Other types of coagulation inhibitors were eliminated by specific factor assays (with a 10-fold increase of cephalin concentration when necessary). Twenty-three thrombotic episodes were observed. No significant difference was found in the incidence of thrombosis between the autoimmune and non-autoimmune disease group, but the age when first thrombosis occurred was clearly lower in the former. Fourteen obstetrical accidents were noted in eight women but 13 pregnancies terminated without accident. Four patients experienced haemorrhagic complications; they all presented with a severe thrombocytopenia associated with the LA. In our experience, LA is a frequent coagulation abnormality, associated in about half of the cases with a clearly defined autoimmune disease. Clinical presentation appears as notably different according to the patient's age; it is particularly noteworthy that in nine out of 10 children, LA disappeared spontaneously within 6 months.
Adolescent↗
[Familial venous and arterial thromboembolic disease due to protein C deficiency].
Explore the source record for details and available documents.
Adult↗
Iatrogenic false aneurysm of the brachial artery in an infant.
A 1-month-old infant was referred for a rapidly expanding mass at the left elbow. Angiography showed contrast extra-vasation from the brachial artery in a 4 X 3 cm pseudo-aneurysm. This false aneurysm was treated surgically with good result. It is probable that accidental arterial puncture during repeated veni punctures in the neonatal period for determination of bilirubinaemia was responsible for pseudo-aneurysm of the brachial artery.
Aneurysm↗
[Reinterventions on bioprostheses. Primary tissue deterioration. Experience in 90 cases].
Explore the source record for details and available documents.
Adolescent↗
[Inhibitors of factor VIII in non-hemophilic patients. Biological and therapeutic aspects. Apropos of 3 cases].
A coagulation inhibitor of the anti-factor VIII: C type was detected in three non-haemophilic male patients aged 75, 70 and 52 respectively. In all three patients antibody titres were low (less than 12.5 Bethesda units initially, less than 20 units subsequently), and a low but detectable level of factor VIII: C persisted (7 to 12 p. 100 in two patients who had severe haemorrhages and 2.100 in the third one). The 3 inhibitors inactivated factor VIII: C with a complex, type II kinetics (Biggs et al.). Strong doses of anti-haemophilic A fractions were biologically effective in one patient but could not stop severe bleeding. Activated plasma fractions were used successfully on several occasions. Once, moderate and repeated doses of anti-haemophilic A fractions resulted in satisfactory correction of factor VIII: C level, and a minor surgical operation could be performed. An immunosuppressive treatment was administered for 3 weeks to one patient and for 3 months to the other two patients. In all three cases the inhibitor disappeared after 5 to 8 months. In non-haemophilic patients with factor VII: C inhibitor the treatment of haemorrhagic episodes must take into account the severity of bleeding, then the usually complex kinetics of the inhibitor; thus it cannot be a direct copy of the treatment used in haemophiliacs with type I inhibitors.
Aged↗
[Successes and failures of the activated partial thromboplastin time in the preoperative evaluation].
In a prospective study assessing haemostatic functions, the activated partial thromboplastin time was prolonged in 134 out of 10,229 patients studied, without an increase in the prothrombin or thrombin times; this abnormality persisted in only 37 of them on a new blood sample. A retrospective analysis was made of 265 patients who had such an isolated prolongation of the activated partial thromboplastin time on two successive blood samples: the causal abnormality remained unexplained in 135 patients; a well defined coagulation disorder without abnormal bleeding tendency was present in 110 patients (1 severe factor XII deficiency, 58 partial factor XI or XII deficiencies and 51 lupus anticoagulants); a bleeding disorder was diagnosed in 20 patients (8 haemophilias, 8 Von Willebrand's diseases, 4 factor VIII inhibitors). The well-iron efficacy of the activated partial thromboplastin time for detecting coagulation abnormalities is counter-balanced by some disadvantages such as the delay for biologic conclusions. In the preoperative assessment of haemostatic functions, rather than taking a routine approach, it would seem better to determine for each patient the need and the extent of biological testing according to the type of planned surgery, the clinical status of the patient and possible bleeding symptoms.
Blood Coagulation Tests↗
[Surgery of acquired heart valve diseases in France: developments in a 10-year period. A multicentric study].
A multicenter study compares the surgery of acquired valvular diseases in France in 1974 and 1984. This study concerns etiology, surgical procedures and postoperative results within 3 months after operation. 2718 observations issued from 20 medical and surgical centers are divided in 2 groups: the first includes 856 patients who underwent surgical operation in 1974, the other group with 1862 patients was operated on in 1984. Significant differences may be observed. The mean age is higher in 1984 (55 vs. 47 years); the rheumatismal etiology decreases from 50.2% in 1974 to 35.1% in 1984; the degenerative and dystrophic causes increase from 13.8% in 1974 to 32.9% in 1984; while the monovalvular mitral lesion is more frequent (42%) than the aortic one (32.7%) in 1974, the proportion is reversed in 1984 where 47% aortic and 34.5% mitral lesions are found; the number of surgical treatments of mitral stenoses in 1984 is half of those in 1974, but the number of surgically treated aortic stenoses and mitral regurgitations is double of those in 1974; the preoperative examination includes left-side heart catheterization in 81.1% and coronary angiography in 64% of surgically treated patients en 1984, the respective percentages en 1974 being 57.8% and 16.1%. In 1974, 27.6% of patients are in a preoperative functional stage I or II, in contrast to 42.8% in 1984. Mitral commissurotomy represents 29.3% of mitral surgery in 1974 (25.6% of them with closed operation), the respective percentage in 1984 being only 10.5% (2.5% of them with closed heart operation).(ABSTRACT TRUNCATED AT 250 WORDS)
Adolescent↗