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Biomedical subjects

M Gouault-Heilmann

Publications and source records attributed to M Gouault-Heilmann.

At least 37 records · Page 2Linked to original sources
PubMed1994

First frameshift mutation in the active protein S gene associated with a quantitative hereditary deficiency.

The authors used a strategy combining the amplification-refractory mutations system (ARMS) and denaturing gradient gel electrophoresis (DGGE) to screen the active protein S (PS) gene in a family with PS deficiency, and found a frameshift mutation in exon V. The protein, if expressed, would have an aberrant amino acid sequence from positions 82 to 90 and a premature stop codon in position 91. The mutation co-segregated with the deficient phenotype and was not found in 120 normal chromosomes. It is proposed that the deletion of a T in the codon corresponding to Pro 82 described here is responsible for the deficient phenotype.

Adult↗
PubMed1994

[A rare cause of portal vein thrombosis: closed abdominal trauma].

Abdominal trauma is a rare and poorly documented cause of portal vein thrombosis. We report here the case of a patient in whom portal vein thrombosis was diagnosed one month after an abdominal blunt trauma. Post-traumatic origin of thrombosis was confirmed by the negativity of an exhaustive aetiological investigation. Thrombosis involved portal bifurcation and right and left portal veins, but remained asymptomatic. A particularity of this case was that a total regression of the thrombosis was observed under anticoagulation therapy.

Abdominal Injuries↗
PubMed1993

Protein S deficiency in a patient with necrotizing cellulitis.

A case of necrotizing cellulitis of the penis is reported. In this patient, transient functional protein S deficiency during the infectious process was demonstrated with a marked decrease of free protein S and elevated C4b-binding protein levels. Moreover, by investigating other members of this patient's family it was possible to demonstrate a subclinical inherited protein S deficiency. In this study it is suggested that the profound and transient decrease of functional protein S observed in this patient during infectious cellulitis, may have contributed to the pathogenesis of tissue necrosis.

Adult↗
PubMed1992

Asymptomatic renal-vein thrombosis in adult nephrotic syndrome ultrasonography and urinary fibrin-fibrinogen products: a prospective study.

OBJECTIVES: The diagnosis of renal vein thrombosis (RVT), a frequent complication of adult nephrotic syndrome (NS), is generally made by means of invasive methods, i.e. renal venography, venous time of renal arteriography and, more recently, computed tomography (CT). We undertook a prospective study to evaluate the use of Doppler ultrasonography (DUS) and urinary fibrin-fibrinogen degradation products (FDPU) for the diagnosis of asymptomatic RVT. METHODS: Thirty-one adult NS with non proliferative glomerulonephritis were studied. Reference procedures [(selective renal arteriography (n = 18) and renal vein CT (n = 13)] were performed blindly within a few days (48 hours in 17 patients) of renal vein DUS (search for a lack of venous flow) and measurement of FDPU (5 micrograms/min) (in 24 patients). RESULTS: DUS was not interpretable in one patient and positive in nine. Of these 9 patients, RVT was detected by reference methods in only two (sensitivity: 1, specificity: 0.75; positive predictive value: 0.22; negative predictive value: 1). Increased FDPU was observed in 4 patients, 2 of whom had an RVT (sensitivity: 1, specificity: 0.9; positive predictive value: 0.5; negative predictive value: 1). CONCLUSION: We conclude that DUS and FDPU are helpful for screening of RVT in asymptomatic NS patients; their negativity allow further radiological investigations to be avoided while positive results must be confirmed by reference methods.

Adolescent↗
PubMed1987

Treatment of acute pulmonary embolism by a low molecular weight heparin fraction. A preliminary study.

We evaluated the antithrombotic efficacy of the low molecular weight heparin (LMWH) fraction PK 10169 in nine consecutive patients with acute pulmonary embolism documented by pulmonary angioscan and angiography. Therapy with PK 10169 was initiated by an i.v. bolus of 0.5 mg/kg, followed by a continuous intravenous infusion during the first 10 days; the drug was then given subcutaneously twice daily during the following 15 days. The dosage of PK 10169 was adjusted by daily measurements of anti-Xa and anti-IIa activities using amidolytic methods. For a dosage ranging from 1.4 to 4.1 mg/kg per day during the i.v. period and from 0.7 to 3.5 mg/kg per day during the s.c. period, the anti-Xa activity ranged from 4 to 8.7 PK U/ml and from 4.5 to 7.2 PK U/ml respectively. Clinical improvement was observed in all the patients and was consistent with progressive reperfusion evaluated by successive angioscans. No recurrence of pulmonary embolism occurred. No deleterious hemorrhagic side-effects were observed, even in two patients at high risk of bleeding. In this pilot study, the LMWH fraction PK 10169 proved to be an effective anticoagulant therapy during the first three weeks after pulmonary embolism in man.

Acute Disease↗
PubMed1987

Low molecular weight heparin fractions as an alternative therapy in heparin-induced thrombocytopenia.

Eight patients with a delayed-onset heparin-induced thrombocytopenia, with thrombotic complications requiring immediate anticoagulation in 7 of them, were given low molecular weight heparin (LMWH) fractions as alternative therapy. This treatment led to normalization of platelet count within 3-5 days in 6 patients with clinical recovery in 5. In 2 patients, thrombocytopenia persisted despite LMWH therapy. In vitro platelet aggregation tests performed in all patients gave evidence of a relationship between the presence (or absence) of a LMWH-dependent platelet-aggregating factor in the patients' plasma and the persistence (or correction) of the thrombocytopenia with LMWH therapy. Although positive in vitro tests may not necessarily be associated with thrombocytopenia, in vitro testing may prove to be a useful guide before giving LMWH fractions as an alternative therapy in patients with heparin-induced thrombocytopenia requiring immediate anticoagulation.

Adult↗
PubMed1987

[Anomalies of coagulation and thromboembolic complications of nephrotic syndromes].

Thrombo-embolic events remain one of the most serious complications in patients with nephrotic syndrome (NS). A causal relationship between coagulation abnormalities and the occurrence of thrombosis in NS has been searched. Several studies have demonstrated multiples abnormalities in the coagulation factors and platelets; however those studies did not provide adequate explanations for the thrombotic tendency of NS. This thrombotic tendency could be related to deficiency in natural coagulation inhibitors. Plasma ATIII level has been reported to be decreased both in some adults and children. Protein C is found normal or high in NS whereas protein S is increased. Nevertheless a possible decrease in functional protein S cannot be excluded.

Blood Coagulation Disorders↗
PubMed1987

[Circulating anticoagulant of the antiprothrombinase type. Retrospective study of 134 cases].

A retrospective study of 134 cases of circulating "lupus anticoagulant" (LA) observed between 1975 and 1985 in the haemostasis laboratory of Henri Mondor Hospital is reported. In 66 p. 100 of cases the circulating anticoagulant was discovered fortuitously and auto-immune diseases were associated with the inhibitor only in 25 p. 100 of cases (mainly systemic lupus erythematosus). Thrombosis (venous, arterial or both) was found in 26 p. 100 of cases when auto-immune diseases were present and in 13.5 p. 100 of cases in the absence of these diseases. Spontaneous abortion was observed in 42 p. 100 of the women when the anticoagulant occurred in the course of an auto-immune disease and in 4 p. 100 when another or no underlying disease were identified. False-positive VDRL and thrombocytopenia were found associated with LA mainly in auto immune diseases. Anticardiolipin antibodies were positive in 37 p. 100 of 32 patients without any difference between auto-immune diseases and other pathologies. These results show that the "lupus anticoagulant" is a frequent coagulation abnormality even when auto-immune diseases are absent. The differences observed between auto-immune diseases and other pathologies in respect to clinical manifestations and biological findings associated with lupus anticoagulant suggest that the so-called "lupus anticoagulant" represents a group of antibodies with probably different specificities but which act in a similar manner in "in vitro" coagulation tests.

Abortion, Spontaneous↗
PubMed1986

Low molecular weight heparin fraction PK 10169: a new therapeutic means for anticoagulant therapy?

To test the efficacy and safety of low molecular weight heparin (LMWH) fractions in thromboembolic diseases, 2 pilot studies were performed. The aim of the first was to test the antithrombotic efficacy of the LMWH PK 10169 (Pharmuka Laboratories) in 9 patients (group I) with acute pulmonary embolism documented by pulmonary angiography and scintiscan. The second study was intended to test the safety of the same LMWH fraction in a group (group II) of 30 patients at high risk of bleeding but also requiring antithrombotic therapy. In the 2 groups, the antithrombotic efficacy of PK 10169 was found to be excellent: no recurrence of pulmonary embolism was noted in group I and no thrombotic event occurred in group II. Neither side effects nor major bleeding complications occurred in either group. However, 1 patient in group II had a moderate bleeding in relation to a transient overdosage, and 3 others exhibited minor bleeding which did not necessitate dosage adjustment. In these studies, PK 10169, at the dosage used, proved an effective antithrombotic therapy with few side effects even in a group of patients considered to be at high risk of bleeding.

Adult↗
PubMed1986

[Study of the protein C-protein S system in glomerulopathies and nephrotic syndrome].

The protein C-protein S natural anticoagulant system was evaluated in 32 patients with proteinuria, 11 without nephrotic syndrome (NS) and 21 with NS of different grade. Antithrombin III (AT III), factors II, VII, X were also measured in the same groups of patients. In addition to plasma levels of these proteins, urinary loss of protein C was evaluated in concentrated urine specimens from 17 of the 21 patients with NS. The protein C antigen level was found to be normal or high in NS, but the difference between the control group and nephrotic patients was statistically significant only in severe NS. For all proteinuric patients, the plasma concentration of protein C correlated positively with the degree of proteinuria, cholesterol level, triglyceride level, and correlated inversely with serum albumin concentration; 17/17 patients with NS exhibited urinary loss of protein C and the degree of protein C excretion correlated positively with the degree of proteinuria. Plasma protein S antigen was measured in only 11 patients with NS and was found to be significatively increased, with a negative correlation with serum albumin concentration. AT III did not differ between the control group and the proteinuric patients with or without NS. Factors II and X were in the normal range for all patients. Factor VII was increased even in mild NS. Thus, the plasma levels of protein C and protein S antigens were normal or increased in patients with NS and this is probably related to an increased liver synthesis rate of these proteins, which is secondary to proteinuria.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗