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J N Fiessinger

Publications and source records attributed to J N Fiessinger.

At least 127 records · Page 7Linked to original sources
PubMed1991

Molecular basis for hereditary antithrombin III quantitative deficiencies: a stop codon in exon IIIa and a frameshift in exon VI.

Antithrombin III (AT III) is an inhibitor of serine protease (serpin) comprising 432 amino acids. Quantitative AT III deficiencies are associated with a high risk of thrombotic disease. Although this risk is smaller in patients with qualitative AT III deficiencies, the molecular defects characterizing the latter have been the subject of many studies. However, in quantitative AT III deficiencies, only three mutations have been described: Pro 407 to Leu and A1a404 to Thr (both located in the C-terminal part of the AT III molecule) and also a frameshift in exon IIIa. Using the asymmetric polymerase chain reaction (PCR) and genomic DNA analysis by direct sequencing, we detected two mutations in three unrelated families: (i) a C----T transition in exon IIIa in two families, leading to the replacement of the codon corresponding to Arg 129 by a stop codon, and (ii) in the third family, insertion of an adenine in the codon corresponding to Phe 408, a highly conserved serpin amino acid. This insertion altered the reading frame and led to the appearance of a premature stop signal. Patients of all three families were heterozygous for their abnormality. These results show that asymmetric PCR and genomic DNA analysis by direct sequencing permit fast identification of the molecular basis of quantitative AT III deficiencies. It is concluded that in many cases the absence of AT III gene product probably results from point mutation, as previously observed for another serpin, alpha-1-antitrypsin.

Adolescent↗
PubMed1991

Percutaneous iliac artery stent: angiographic long-term follow-up.

The authors conducted a prospective study of 49 consecutive patients with 53 lesions in 52 iliac arteries. All were treated between October 1987 and April 1990 with percutaneous transluminal angioplasty (PTA) and insertion of either a self-expandable or balloon-expandable stent. Lesions included total occlusion (28%), dissection (42%), post-PTA restenosis (21%), and unsatisfactory PTA (9%). Complications included one aortic protrusion, one acute thrombosis of the stent (resolved with urokinase), and three distal embolizations (5.7%) (resolved with urokinase and aspiration). During 15 months of follow-up, two patients died (one after occlusion). Three other occlusions occurred; one of these was resolved with local thrombolysis. Hyperplasia occurred in seven cases (13.5%), and stenosis occurred at the end of the stent because of incomplete covering of the lesion in three (5.8%); a complementary procedure was performed in six of these cases. Primary patency was 85.3% at 12 months and 80.9% at 18 months; secondary patency rate was 96.1% at 12 and at 18 months. At the end of the study, excluding data for the two patients who died, 27 limbs (54%) were asymptomatic and improvement was achieved in 19 (38%); the clinical success rate was 92%. No amputations were required.

Adult↗
PubMed1991

Heparin cofactor II: an acute phase reactant in patients with deep vein thrombosis.

In human plasma, heparin cofactor II (HCII) is a thrombin inhibitor which displays similarities with antithrombin III (ATIII). As previously reported for hereditary ATIII deficiency, cases of recurrent thrombosis were reported in patients with hereditary HCII deficiency. Here, plasma HCII activity was studied in 372 patients with a history of thrombosis, classified according to their anticoagulant therapy. The mean plasma HCII level was significantly higher in patients with acute deep vein thrombosis (DVT) under heparin therapy than in patients with a history of thrombosis, who were studied more than 3 months after the acute event, and were either on, or had been on, oral anticoagulant therapy. HCII and fibrinogen were significantly correlated in all three groups of patients. These results were strengthened by those of a follow-up study in 23 patients with acute DVT. Changes in plasma HCII activity paralleled those of fibrinogen. This suggests that HCII might behave like an acute phase reactant in patients with thrombosis and that the measurement of its plasma level as a risk factor for thrombosis should be performed some time after the acute episode. In conclusion, the prevalence of HCII deficiency in patients with a history of thrombosis might have been underestimated in series which included patients with acute thrombosis.

Acute-Phase Proteins↗
PubMed1991

[Esophagitis in progressive systemic scleroderma. Prevalence and risk factors in forty-six patients].

Forty-six patients with progressive systemic sclerosis (37 women and 9 men) were successively evaluated by endoscopy, manometry, and esophageal pH monitoring. Fourteen patients (30.4 percent) had erosive esophagitis. Twenty-four patients were symptomatic; nineteen patients complained of dysplagia. Erosive esophagitis was significantly more frequent in symptomatic patients than in asymptomatic patients (50.0 percent vs 9 percent, P less than 0.01) and especially in patients complaining of dysphagia (57.9 percent vs 11.1 percent, P less than 0.01). Erosive esophagitis was not correlated with symptoms of gastroesophageal reflux. Abnormal esophageal motility was found in 34 patients (73.9 percent). Occurrence of erosive esophagitis was not linked with esophageal dysmotility. In patients with erosive esophagitis lower esophageal sphincter pressures were significantly lower than those in patients without erosive esophagitis. Twenty-four hr-pH monitoring showed pathological gastroesophageal reflux in 20 patients (43.5 percent). Erosive esophagitis was more frequent in patients with pathological gastroesophageal reflux than in patients with normal gastroesophageal reflux (50.0 percent vs 15.4 percent, P less than 0.02) especially in patients with pathological supine nighttime gastroesophageal reflux (61.5 percent vs 18.2 percent, P less than 0.01). Our data suggest that symptoms, dysphagia, diminished lower esophageal sphincter pressures, and pathologic nighttime gastroesophageal reflux are reliable predictors of the presence of erosive esophagitis in patients with progressive systemic sclerosis.

Adult↗
PubMed1990

[Echography and venous pathology].

When performed by a well-trained operator, ultrasonic exploration of the deep veins has a more than 90% sensitivity and specificity in the diagnosis of deep vein thrombosis. Despite technical problems in the ileal and sural regions, it is the first examination to be carried out in patients with clinical signs of venous thrombosis. In distal thrombosis of the leg and calf ultrasonography might even be more sensitive than phlebography. In superficial phlebitis ultrasounds can be used to evaluate the extent of thrombosis. In varicose vein disease, they are also a crucial element in the choice of treatment.

Humans↗
PubMed1990

Important role of arginine 129 in heparin-binding site of antithrombin III. Identification of a novel mutation arginine 129 to glutamine.

An hereditary abnormal antithrombin III (ATIII Geneva) with defective heparin cofactor activity was characterized by DNA single strand amplification and subsequent direct sequencing. ATIII Geneva was found to have a G to A transition in Exon IIIa leading to an Arg-129 to Gln mutation. This amino acid is part of the ATIII region comprising residues 114-154, which contains the highest proportion of basic residues (Arg or Lys), and is known from chemical modification studies to be involved in heparin binding. The variant protein did not bind heparin-Sepharose and was isolated from the propositus plasma by immunoaffinity chromatography. High affinity (for ATIII) heparin had only a minimal effect on thrombin and activated factor X inhibition by the purified abnormal ATIII. Taken together, these results demonstrate an important role for Arg-129 in the binding and interaction of ATIII with heparin of high affinity. We propose that a cooperation between Lys-125, Arg-129, Lys-136, and Arg-47 exposed at the surface of the inhibitor allows the binding of the essential pentasaccharide domain of heparin which is specific for the ATIII interaction.

Amino Acid Sequence↗
PubMed1990

[Acute ischemia of the legs caused by white clot syndrome after cardiac surgery].

A case of post-surgical heparin-induced thrombocytopenia with bilateral aorto-iliac thrombosis (the so-called "white clot syndrome") is reported. The clinical manifestation was acute ischaemia in both lower limbs, requiring surgery. In view of the patient's poor general condition 15 days after a double aorto-coronary bypass, the surgical treatment was limited to ilio-femoral thrombectomy associated with extra-anatomical bypass. This, combined with medical treatment, resulted in resolution of all thrombotic symptoms and disappearance of the intra-aortic thrombi at control Doppler ultrasonography and arteriography performed one month later.

Aorta, Abdominal↗
PubMed1990

[Thrombosis of the gastrocnemic veins. A clinical entity].

Among deep venous thromboses of the calf, isolated gastrocnemic vein thrombosis is a rare condition. Its main characteristics could be extracted from 5 cases. Following a positional or mechanical triggering factor, the diagnosis is suggested by pain localized to the calf. Ultrasonography shows the intraluminal thrombus better than phlebography, since the gastrocnemic veins, which bypass the larger deep veins, can be opacified only after a garrot is placed above the knee. The thrombus may extend to the popliteal vein, with a risk of pulmonary embolism and post-phlebitis disease. Treatment consists of anticoagulants and elastic bandage.

4-Hydroxycoumarins↗
PubMed1990

[Idiopathic and secondary Raynaud's phenomenon. A comparative psychosomatic approach].

Thirty subjects with Raynaud's phenomenon admitted for determination of its cause underwent psychological examination. Raynaud's phenomenon was regarded as primary in 14 cases, secondary (usually to scleroderma) in 13 cases and eluding classification in 3 cases. The mean age of patients with primary Raynaud's phenomenon was higher than in the other groups. Interviews and psychological tests were carried out with all but 2 patients and all investigators being totally unaware of the aetiological category. Patients with secondary Raynaud's phenomenon significantly differed from those with primary Raynaud's phenomenon in their personality patterns, attitudes towards interlocutors and way of coping with conflicts. Patients with primary Raynaud's phenomenon were characterized by a relatively frequent hysterical personality and by their dodging behaviour when faced with their own aggressiveness. Patients with secondary Raynaud's phenomenon were found to be more distant, more conformist, more able to control their emotions and seemed to be less inclined to seek help when in trouble. Such findings suggest that Raynaud's phenomenon has a "psychosomatic" component: a psychic vulnerability which might contribute to the progress of the disease, and more clearly so in patients with secondary Raynaud's phenomenon than in patients with primary Raynaud's phenomenon, as confirmed by the so-called psychic fragility" score used to quantify the efficiency of mental functioning. These psychological features were unrelated to age. The profile of patients with secondary Raynaud's phenomenon is close to pattern C described as possibly having a prognostic value in proliferative or autoimmune diseases.

Adult↗
PubMed1990

Trial of iloprost versus aspirin treatment for critical limb ischaemia of thromboangiitis obliterans. The TAO Study.

152 patients with thromboangiitis obliterans (Buerger's disease) and pain from critical leg ischaemia were randomly allocated to receive iloprost, a chemically stable prostacyclin analogue, or low-dose aspirin, for 28 days in a double-blind trial. On review, 19 patients did not fulfil the stringent entry criteria. Of the other 133 patients, 98 also had leg ulcers. After 21-28 days, 58 (85%) of 68 iloprost-treated patients showed ulcer healing or relief of ischaemic pain, compared with 11 (17%) of 65 in the aspirin-treated group. 43 (63%) on iloprost treatment had complete relief of pain, compared with 18 (28%) on aspirin. Ulcers healed completely in 18 of 52 (35%) who received iloprost compared with 6 of 46 (13%) who received aspirin. 6 months after the start of treatment, the response rate was 45 of 51 (88%) patients treated with iloprost compared with 12 of 44 (21%) patients treated with aspirin.

Adolescent↗
PubMed1990

A plasma clot lysis assay based on the release of fibrin degradation products: application to the diagnosis of hypofibrinolytic states.

Using a monoclonal antibody-based assay, we measured the fibrin degradation product release in the supernatant of plasma clots obtained before and after venous occlusion (VO) in 30 patients with definite or suspected vascular thrombosis (19 definite and 2 suspected deep vein thrombosis, 6 recurrent superficial thrombophlebitis, 3 arterial occlusions of lower limbs). tPA and PAI-1 concentrations were determined using ELISA assays; the post-occlusion values were corrected for haemoconcentration. The increase in tPA during VO was correlated with haemoconcentration (r = 0.74), but 3 patients had ineffective VO (less than 2% increase in proteins). The fibrinolytic response to VO was evaluated using the shortening of the time necessary for the release of 200 micrograms of fibrin degradation products per mg of fibrinogen (delta T 200). Two among the 27 patients with effective VO were bad responders with a delta T 200 less than 3 h (whereas all the others had delta T 200 greater than 10 h). These patients had respectively a deficient tPA release (delta tPA = 1 ng/ml) and an elevated PAI-1 level at rest (33 ng/ml). Several other patients were bad responders in terms of tPA release or of shortening of the euglobulin clot lysis time but they had a normal delta T 200. This plasma clot test reflects the ability of free tPA to bind to fibrin (the amount of which depends on the level of tPA and PAI-1), and may be useful in the diagnosis of a hypofibrinolytic state.

Adult↗
PubMed1990

Takayasu's disease: diagnostic and therapeutic value of subclavian artery biopsy.

Seventeen surgical biopsy specimens of the axillary or subclavian artery were obtained from patients who had inflammatory, nonatherosclerotic arterial lesions and were studied retrospectively. Initial roentgenologic clinical, and histologic findings were evaluated and compared with final diagnosis. Histological examination suggested Takayasu's disease in 11 patients whereas the roentgenologic and clinical signs led us to suspect Takayasu's disease in only eight instances. Takayasu's disease was confirmed in these eight cases later in the course of the disease. In six patients subclavian artery biopsy specimens showed lesions consistent with Horton's disease in contrast to roentgenologic and clinical signs which suggested Takayasu's disease. In five patients, the final diagnosis was Horton's disease and in one, the diagnosis remained unknown. Of 13 patients who had revascularization procedures, bypasses remained patent in patients followed from nine months to 16 years (mean: 68 months). Histopathologic criteria are more reliable than roentgenologic or clinical signs in the diagnosis of Takayasu's disease. The subclavian artery is frequently involved in Takayasu's disease and is a desirable site for retrieval of diagnostic specimen when a revascularization procedure is entertained.

Adult↗