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Biomedical subjects

P Priollet

Publications and source records attributed to P Priollet.

At least 73 records · Page 4Linked 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

Lupus anticoagulant and leg ulcers associated with ankylosing spondylitis.

We describe a 60-year-old man with ankylosing spondylitis (AS), hospitalized for leg ulcers. Laboratory investigations revealed the presence of the lupus anticoagulant. We found no such an association by a computer assisted search of the literature published from 1975 to 1989. The relationship between the AS, the lupus anticoagulant and leg ulcers is discussed.

Humans↗
PubMed1991

[Treatment of hypertension in arteritic patients].

The treatment of hypertension in arteritic patients must take account of several parameters: respective severity of hypertension and of arteriopathy, possibility of other sites of atherosclerosis and supposed cause of hypertension. The association of essential hypertension and of an arteriopathy does not sum up all possibilities. Hypertension may be purely systolic, due to decreased compliance. A stenosis of the renal arteries is also worth evoking in the context of an already symptomatic atherosclerotic disease. For the confirmation of the latter hypothesis, Doppler associated to echography may be an alternative to the intravenous or intra-arterial opacification of the renal arteries. In case of moderate hypertension (diastolic pressure ranging from 90 to 104 mmHg), non-medicamentous treatments should be preferred: low-sodium diet, suppression of tobacco and other risk factors, weight loss. Beta-blockers, whatever their class, reduce the walking distance in case of intermittent claudication. Though not formally contraindicated, especially when their use is justified by an associated coronary insufficiency, they are not advised in hypertensive arteritic patients. On the other hand, captopril allows both reducing blood pressure and preserving the walking distance. However, a prerequisite to the possible use of agents inhibiting the conversion enzyme is the preliminary search for a stenosis of the renal arteries. In fact, when these medications are carelessly used in case of bilateral stenosis or of stenosis on a functionally single kidney, they entail a risk of renal failure or of thrombosis of the stenosed renal artery. Calcium inhibiting agents are also anti-hypertensive substances of choice in hypertensive arteritic subjects.(ABSTRACT TRUNCATED AT 250 WORDS)

Arteritis↗
PubMed1991

[Thrombosis of renal veins].

According to whether they are acute or progressive, complete or partial, uni- or bilateral, renal venous thromboses have quite various clinical expressions and biological consequences. The diagnosis is readily suggested by acute pain in the side with an increase in the size of one or both kidneys, associated with hematuria, proteinuria, or in case of renal failure, which is characteristic of acute bilateral thrombosis. On the other hand, chronic thrombosis of a renal vein is sometimes suggested only when complications such as pulmonary embolism occur. This explain why it is often discovered on autopsy. The diagnosis is confirmed on the basis of radiology, with ultrasound combined with vascular Doppler becoming increasingly important. Renal venous thrombosis may have various causes: disorders in renal blood flow, especially in the acute forms in newborns; hypercoagulability, in particular in nephrotic syndromes and above all in extramembranous glomerulonephritis; extension of vena cava thrombosis; retroperitoneal diseases involving the renal pedicle or extension of a renal tumor. The treatment of renal vein thrombosis is mainly medical and based on anticoagulants. The role of fibrinolytic treatment is controversial. Surgery is exceptional.

Humans↗
PubMed1988

[Erythermalgia, rare acrosyndrome. 13 cases].

The diagnosis of erythermalgia, initially made in 27 patients between 1980 and 1986, was re-evaluated on the basis of 7 criteria. Three were major criteria: paroxysmal attacks, burning pain in the extremities and redness of the territory concerned during the attacks. The 4 minor criteria were: typical precipitating factors (exposure to heat, effort), typical relieving factors (exposure to cold, rest), elevated local temperature during the attacks and response of symptoms to acetylsalicylic acid. The diagnosis was deemed to be correct when the 3 major criteria and at least 2 of the minor criteria were present. Thirteen patients (8 women, 5 men) fulfilled these conditions. Nine of them had primary erythermalgia and in 4 patients the condition was consecutive to a myeloproliferative syndrome (thrombocytopenia in 2 cases, Vaquez' disease in 2 cases). These two forms differed on several points. Patients with secondary erythermalgia were older, some had unilateral disorders, and their symptoms were less intense; the syndrome always followed a favourable course and disappeared when the causative disease was cured; in 3 out of 4 cases erythermalgia disclosed a myeloproliferative syndrome. Patients with primary erythermalgia were younger, the syndrome was of longer duration and the symptoms always bilateral and sometimes severe; those who responded to acetylsalicylic acid had a favourable prognosis, but treatment was difficult in the others. Capillaroscopy is of little help to diagnose this syndrome; this is done on clinical grounds only and it is easy when the criteria, as defined in this study, are present. In every case, blood examination with platelet count and erythrocyte sedimentation rate is advisable.

Adult↗
PubMed1988

Association of inherited dysfibrinogenaemia and protein C deficiency in two unrelated families.

An inherited association of dysfibrinogenaemia and protein C deficiency was found in three members of the same family. The propositus was a 48-year-old man who suffered from severe and rapidly complicated atherosclerosis of the aorta and lower limbs arteries, which perhaps suggests that the association of these two molecular abnormalities may have enhanced the thrombotic process. The abnormal fibrinogen had a reduced ability to bind thrombin which may be thrombogenic. We found the same inherited association of dysfibrinogenaemia and protein C deficiency in a patient with venous thrombosis. The functional abnormality of the fibrinogen, which could have been responsible for thrombosis, was delayed proteolysis by plasmin. Not only fibrinogen, but also fibrin clots were resistant to plasmic degradation. These observations raise two questions: (1) Is the association of a protein C deficiency with a dysfibrinogenaemia fortuitous or the result of a common mechanism? (2) Is there a link between an increased thrombotic tendency and either both of the defects of haemostasis that we have found, or only one of them?

Adult↗