Biomedical subjects

L Foubert

Publications and source records attributed to L Foubert.

51 records · Page 3Linked to original sources

PubMed1994

Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries.

Mutations in the lipoprotein lipase (LPL) gene are the most common cause of familial chylomicronemia. Here we define the molecular basis of LPL deficiency in four patients of German, French, Dutch, and Chinese descent. We show that two of the probands of Dutch and Chinese origin have a previously described Arg243His mutation while the patients of German and French descent have a novel Arg243Cys substitution in their LPL gene. Haplotype analysis is in favour of two separate origins for the Arg243Cys substitution which together with the Arg243His mutation would implicate three recurrent mutations involving the first and second nucleotides of the codon encoding Arg243 of the LPL gene. The recurrent mutations affecting the first and second nucleotide of CGC coding for the normal Arg residue are support for the high mutability of CpG dinucleotides within the LPL gene.

Adult↗

PubMed1994

Use of ketanserin in the treatment of hypertension following coronary artery surgery.

Ketanserin, a selective S2-serotonin receptor blocker with alpha 1-adrenergic blocking effects, may be a suitable antihypertensive medication after coronary artery surgery and lacks side effects seen with other vasodilators. Fifty patients with systolic blood pressures greater than 150 mmHg after coronary artery surgery were given, in a randomized double-blind fashion, either ketanserin (K) or saline (S). Each patient received six successive boluses of 1 mL of S or 1 mL of K (5 mg) at 2-minute intervals. After the last injection, sodium nitroprusside was started whenever the systolic blood pressure exceeded 150 mmHg. In the K group, the following significant (P < 0.05) changes occurred: systolic and diastolic arterial pressure -12% and -11%, respectively; heart rate -3%; systolic and diastolic pulmonary artery pressure -5% and -6%; central venous pressure -5%; pulmonary capillary wedge pressure -5%; systemic vascular resistance -16%; pulmonary vascular resistance -8%; stroke index +6%. None of these parameters changed significantly in the S group. There was no change in pulmonary shunt fraction in either group. In the K group, five patients did not require any further antihypertensive therapy during the 120 minutes following the last bolus injection. Twenty patients needed sodium nitroprusside during this period. This occurred 37 minutes (+/- 17 min) after the last bolus. In conclusion, after coronary artery bypass surgery, K is an effective antihypertensive medication, which does not cause reflex tachycardia or an increase in pulmonary shunt fraction. Exceeding the recommended dose of 10 (or 20) mg, as done in this study, does not seem to improve effectiveness or prolong the duration of action.

Aged↗

PubMed1994

Inhaled nitric oxide in patients with normal and increased pulmonary vascular resistance after cardiac surgery.

We studied the haemodynamic effects of inhaled nitric oxide 40 p.p.m. in two groups of patients after cardiac surgery (mitral valve surgery or coronary artery bypass grafting). Nitric oxide caused a significant reduction in pulmonary vascular resistance after mitral valve surgery in patients who had pre-existing pulmonary hypertension, but no change in haemodynamic state in the coronary artery bypass group of patients, who had normal pulmonary arterial pressures.

Administration, Inhalation↗

PubMed1994

D-901 neonatal oxygenator: a new perspective.

Five infants with congenital heart disease were perfused with the D-901 neonatal oxygenator at the time of their cardiac surgery. The ability to reduce the prime volume below the blood volume as well as the blood handling and gas transfer characteristics were studied. In all cases the prime volume was less than or equal to the blood volume of the patient. This resulted in a reduction in the use of homologous blood products. Due to the concept of the D-901 it was possible to adapt the tubing in such a way that a complete prime of 220 ml was obtained. The device had a maximum oxygen transfer of 45 ml/min. The maximum carbon dioxide removal was 50 ml/min at a blood gas ratio of one. The mean platelet count post bypass decreased to 91% of the baseline value. Mean free haemoglobin levels increased to 86 mg/100 ml at 120 minutes of bypass. We conclude that the D-901 oxygenator opens new perspectives for perfusion in small babies in terms of priming volume and use of homologous blood products while maintaining good gas transfer characteristics. However, larger series are necessary to expand our experience with this device and its limitations. No specific problems related to the device were encountered and all infants had an uneventful postoperative course.

Blood Proteins↗

PubMed1994

[Molecular genetics and lipoprotein lipase deficiency].

Lipoprotein lipase (LPL) deficiency is the main cause of familial chylomicronemia, a disease characterised by high fasting plasma triglyceride levels, that can be complicated with acute pancreatitis. This autosomal recessive disorder is rare (1/10(6) in the general population). Classically this disorder is non atherogenic, and the heterozygotes are asymptomatic. To date, 35 gene mutations have been described throughout the world. We have studied 12 families in which the molecular basis for LPL deficiency had been established (direct sequencing of PCR products) by the presence of mutations on the LPL gene, in the 18 homozygous probands. We have found 13 mutations: 7 missense mutations in exons 5 and 6, 3 deletions of few bases in exons 3 and 4, 1 insertion one base in exon 2, one large deletion of exon 9, and one partial duplication of exon 6. PCR and enzymatic restriction of the LPL gene were used as methods for screening mutations or analysing polymorphic markers. This allowed a discrimination between heterozygote carriers (C, n = 35) and non carriers (NC, n = 26). Both groups were comparable for age, sex ratio, body mass index, life style habits, and other risk factors for atherosclerosis. Comparison (U-test Mann Whitney) of plasma lipid values revealed a lower HDL cholesterol level (C: 0,47 +/- 0,11 g/l vs NC: 0,58 +/- 0,18 g/l, p < 0.05) and a higher triglyceride level (C: 1,15 +/- 0,73 g/l vs NC: 0,77 +/- 0,43 g/l, p < 0.05) in heterozygotes. Conversely to the homozygous state, heterozygous LPL deficiency predisposes to a lipid profile that may be atherogenic evenly frequent (approximately 1/500) in the general population.

Heterozygote↗

PubMed1993