PubMed Health⌕ Search

Biomedical subjects

J Fontcuberta

Publications and source records attributed to J Fontcuberta.

At least 127 records · Page 7Linked to original sources
PubMed1992

[Polymorphism MI detected through the enzyme MspI in the study of congenital protein C deficiency].

BACKGROUND: In order to find alternatives for the diagnosis of hereditary protein C (PC) deficiency, we have studied the diagnostic informativity of the restriction fragment length polymorphism (RFLP) MI, located 7 kb upstream of the PC gene and detected with the restriction enzyme MspI. METHODS: The RFLP MI has been analysed in 77 individuals belonging to 27 families with congenital PC deficiency, as well as in a control group of 46 healthy donors. The analysis has been performed by PCR amplification and MspI digestion of the polymorphic DNA fragment. RESULTS: The allelic frequencies of the RFLP MI in the population studied are 0.69 for the allele A1, without the MspI restriction site, and 0.31 for the allele A2, with the MspI site. No differences have been found between the control and the PC deficient groups. The informativity of the polymorphism has been calculated to be 33.8%. Consegregation studies between this RFLP and PC deficiency have allowed the determination of the allele associated to the polymorphism in 21 out of the 27 studied families. Furthermore, an asymptomatic PC deficient carrier, with normal PC levels, has been identified. CONCLUSIONS: The study of this RFLP in families with hereditary PC deficiency may be useful for the identification of PC deficient carriers as well as for the prenatal diagnosis of the deficiency.

Alleles↗
PubMed1992

Immunoglobulin fractions isolated from patients with antiphospholipid antibodies prevent the inactivation of factor Va by activated protein C on human endothelial cells.

We studied the effect of purified immunoglobulins (Ig) from 21 patients with antiphospholipid antibodies (aPL) on factor Va degradation by activated protein C (aPC) on cultured human umbilical vein endothelial cells (HUVEC). Sera from patients were tested on an ELISA aPL assay to determine the isotype with aPL activity. HUVEC were incubated with purified IgG or IgM fraction from controls or patients. Activated PC and factor Va were then added and factor Va degradation was measured after several reaction times. 13 of 14 IgM and 8 of 10 IgG from patients showed an inhibitory effect on factor Va degradation by aPC when compared with control Ig. We also observed the same inhibitory effect with patients' Ig on studying the degradation of factor Va by aPC in a purified system containing aPC, protein S and phospholipids. These results suggest that aPL antibodies disturb the anticoagulant activity of aPC, which may contribute to the thrombotic tendency of these patients.

Antibodies↗
PubMed1992

Protein C deficiency: identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish families.

We have applied single-strand conformation polymorphism (SSCP) to the analysis of exon 7 of the anticoagulant protein C (PC) gene, in 13 PC-deficient Spanish families. Abnormal patterns were visualized in three samples from type I or quantitative PC deficient proposita. A previously undescribed mutation due to a TT insertion after nucleotide 6139, between codons Gly-142 and Arg-143 was found in one family. The mutation (6139,ins TT) should result in a frameshift with a stop at codon 156, which agrees with the presence of a type I or quantitative PC deficiency in the affected members of the family. The second mutation identified was a C to T transition at nucleotide 6274, 9 base pairs into intron G. This mutation (6274,C-->T), found for the first time in a Spanish family, is identical to the previously characterized PC Sant Louis. The third mutation was a G to A transition that replaces arginine 178 with glutamine (178,R-->Q). This is the third case of 178,R-->Q mutation in 17 apparently unrelated Spanish families with type I PC deficiency. Furthermore, SSCP analysis allowed the detection of another previously described mutation in a PC-deficient Spanish family (178,R-->W).

Base Sequence↗
PubMed1992

The release of plasminogen activators (t-PA and u-PA) and plasminogen activator inhibitor (PAI-1) after venous stasis.

The aim of the present study was to compare plasma levels of urokinase-type plasminogen activator (u-PA), before and after 20 min of venous stasis, with those of tissue-type plasminogen activator (t-PA), type 1 plasminogen activator inhibitor (PAI-1) and t-PA/PAI-1 complexes, to determine whether both plasminogen activators and their inhibitor respond similarly to the same stimulus. We studied 36 patients with recurrent venous thrombosis in whom no coagulation defects predisposing them to thrombosis had been detected (mean age 38.2 years, range 15-70 years). Twenty healthy individuals (mean age 34.3 years, range 20-60 years) served as a control group. t-PA, PAI-1 and u-PA activity and antigen, as well as the t-PA/PAI-1 complex antigen, were measured before and after venous stasis. Post-stasis fibrinolytic parameters were corrected for the haemoconcentration which occurred during the venous occlusion test. Pathologically high PAI-1 levels (antigen and activity) were found in four out of 36 patients who were excluded from study. Functional and antigenic u-PA increased significantly after venous stasis when analysed as the absolute differences between paired samples (P less than 0.01). This increase in u-PA did not correlate with changes in t-PA or PAI-1 (r = 0.28 and r = 0.36 respectively). This leads us to suggest that different mechanisms relating to clearance and/or release from diverse sources might be involved in elevations of u-PA in response to a local endothelial stimulus. We conclude that venous stasis might not be the elective choice when evaluating 'bad responders' predisposed to thrombosis.

Adolescent↗
PubMed1992

Splenic hematoma in acute pancreatitis. Role of coagulation disorders.

Splenic hematomas are infrequent complications of acute pancreatitis. In some cases, local factors that may play a role in the pathogenesis of the hematoma (thrombosis of the splenic artery or veins, intrasplenic pseudocysts, perisplenic adhesions, enzymatic digestion) are found. In the absence of local factors, the etiology of splenic hemorrhage remains unknown. We report two cases of splenic hematoma occurring during an acute necro-hemorrhagic pancreatitis associated with renal failure that required renal replacement therapy (hemodialysis and continuous arteriovenous hemodialysis). In both cases, more than half of splenic parenchyma was affected by multiple infarctions. No local factors responsible for the splenic abnormalities were detected in either case. Thrombosis of the splenic arterial microcirculation and a coagulation disorder consistent with disseminated intravascular coagulation was detected in one patient. In the second patient, coagulation disorders secondary to either liver disease, pancreatitis and its septic complications, or extracorporeal circuit heparinization for renal replacement therapy were present. Coagulation disorders should be considered whenever a splenic hematoma is found in a patient with acute pancreatitis. Disseminated intravascular coagulation may be the etiology of a splenic hematoma in acute pancreatitis.

Acute Disease↗
PubMed1991

[Short-term treatment of thrombosis of heart valve prostheses with high doses of streptokinase. Presentation of 5 cases].

Five cases of thrombosis of cardiac prosthetic valves were treated with high dose fibrinolytic drugs during a short period of time. There were 3 mitral, one tricuspid and one pulmonary prosthetic valves. In 3 cases the treatment was successful without significant complications. Another patient, a woman in early pregnancy, died shortly after the treatment. The last patient required surgery as the cause of valve obstruction was a fibrous pannus virtually without thrombus formation. This diagnosis was intraoperative. The reported therapeutic modality permits a rapid resolution of valve obstruction. If this is not the case, surgery may be immediately carried out when the hemodynamic condition of the patient is still adequate.

Adult↗
PubMed1991

[Markers of hypercoagulability during pregnancy: thrombin-antithrombin-III complexes and D dimer].

Pregnancy can be regarded as a secondary hyper-coagulability state. The development of thrombin-anti-thrombin complexes (TATC), D dimer and anti-thrombin III (AT III) was analysed in the present work on 33 pregnant women. A significant increase of the TATC records was found between the first and third trimesters and between the second and third trimesters (p = 0.005 and p = 0.02, respectively). The AT III values were within the normal range. The values of the D dimer increased progressively during pregnancy, but only the figures achieved in the third trimester were statistically significant with respect to the control group (p = 0.14). The increase of TATC and D dimer during pregnancy are considered as hypercoagulability.

Adult↗
PubMed1990

[Importance of antiphosphatidylserine antibodies in patients with lupus anticoagulant. Analysis of 30 cases].

Anti-phosphatidylserine (APS) and anticardiolipin (ACL) antibodies were measured in 30 patients with lupus anticoagulant. In 17 cases there were clinical features of thrombosis (56.7%). The number of patients with IgG APS and ACL levels higher than seven standard deviations from the normal mean was significantly higher in the group with thrombosis (p less than 0.017 and p less than 0.02, respectively). The IgG APS level was higher in the group without systemic lupus erythematosus (p less than 0.029). There was a positive correlation between IgG APS and the activated thromboplastin time (r = 0.654, p less than 0.001). The correlation between IgG APS and IgG ACL was rho = 0.61. Two of the 5 patients with increased IgG APS and normal IgG ACL had thrombosis. We think that, in this group of patients, IgG APS titer may be, like IgG ACL, a biological marker of thrombosis risk.

Adult↗