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Biomedical subjects

D Bouthillier

Publications and source records attributed to D Bouthillier.

26 records · Page 2Linked to original sources
PubMed1983

[Xanthoma and atherosclerosis in the presence of normal plasma lipids].

Normal plasma lipid levels do not prevent the infiltration of skin and arterial walls by cholesterol. This does not mean that lipoproteins do not play a role in tissue infiltration which takes place in subjects with normal lipids. Abnormal lipids, an abnormal distribution of atherogenic and non-atherogenic lipids in the blood, a latent hyperlipidemia, the relative proportions of apolipoproteins in circulation or an abnormal composition of the lipoproteins may contribute to this phenomenon. Our studies in subjects with normal lipid levels with xanthelasmata support the hypothesis that the apolipoprotein-B has atherogenic properties. In addition, they suggest that certain isomers of the apolipoprotein-E may also be involved. Preliminary studies in our laboratory using a simple technique of identifying the 6 phenotypes of the apolipoprotein-E suggest that the isomer E2 may favour the appearance of hyperlipidemia when another genetic or environmental factor is present.

Apolipoproteins↗
PubMed1983

Simple, reproducible procedure for selective measurement of lipoprotein lipase and hepatic lipase.

Existing methods for determining the release of lipoprotein lipase (EC 3.1.1.34) and hepatic lipase (EC 3.1.1.3) into plasma after heparin injection give highly variable results, primarily traceable to errors in the isolation of labeled oleate from the substrate, triolein. Methods involving anion-exchange resin to bind oleate show high variability and have a low yield. Introducing a strong base in the last step of the assay may spuriously increase the counts from oleate, whereas a detergent such as Triton X-100, used to minimize this problem, has a strong quenching effect. We report a simple and rapid method in which we eliminate rather than correct for the sources of variation. The substrate, tri[1-14C]oleoyl-glycerol, is sonicated under strictly standardized conditions with gum arabic, 50 g/L. Incubation is stopped by addition of a benzene/chloroform/methanol mixture and NaOH, 0.2 mol/L. Labeled oleic acid is extracted with hexane after acidification of the alkaline aqueous (upper) phase, so that no alkali is introduced into the scintillation liquid. For lipoprotein lipase measurement, hepatic lipase is inactivated by a specific antiserum, whereas hepatic lipase is measured after lipoprotein lipase is inactivated by NaCl, 1.0 mol/L. The method is efficient and specific, and quenching and chemiluminescence artifacts are avoided.

Animals↗
PubMed1982

Plasma lipoprotein lipase and hepatic lipase activities in Friedreich's ataxia.

Plasma triglycerides although within the normal range have been shown to be higher in Friedreich's ataxia than in control subjects. To determine whether this difference could be ascribed to a reduced catabolism of triglyceride-rich lipoproteins, the activities of lipoprotein lipase (LPL) and hepatic triglyceride lipase (HL), released into plasma after an heparin injection, were measured in 13 cases of Friedreich's ataxia and 14 control subjects of comparable signs. LPL was found to be significantly lower in the ataxic patients. Moreover about half of the cases clustered below the normal range for both lipase activities. This subgroup of Friedreich's patients had significantly higher plasma triglycerides than those with normal lipase activities. Further studies are needed to relate these findings to other characteristics of the disease.

Adolescent↗
PubMed1982

[Xanthelasma palpebrarum and dyslipoproteinaemia: two retrospective studies (author's transl)].

In a retrospective study about 600 hyperlipoproteinaemic patients (390 men and 210 women, mean age 47), xanthelasma palpebrarum was infrequent (25 cases or 4.16 p. 100), since it was only at the third rank of chronic extra-vascular lipid deposits after arcus corneus and tendineous xanthomas. It was twice as frequent in men (5.12 p. 100) as in women (2.38 p. 100) and of regularly increasing occurrence until the sixth decade. Among the atherosclerotic risk factors, only obesity was significantly associated. The existence of atherosclerotic diseases was observed more frequently in patients with xanthelasma palpebrarum (40 p. 100) than in total hyperlipoproteinaemic population (28 p. 100). In a second retrospective study concerning 29 patients (15 men and 14 women, mean age 50), selected from the only presence of one or several xanthelasma palpebrarum, a lipoproteinaemic abnormality was observed in 27 cases (93 p. 100): 23 patients (71 p. 100) were hyperlipoproteinaemic (type IIa, IIb or IV) and in 4 out of 6 normolipidemic patients we observed an abnormal lipoprotein cholesterol distribution (LDL + VLDL cholesterol increase and HDL cholesterol decrease). In this group, we observed in nine patients (31 p. 100) unknown atherosclerotic diseases and tendineous xanthomas in other nine patients (31 p. 100).

Adolescent↗
PubMed1981

[Tendinous hyperlipoproteinaemic xanthomatosis associated with supravalvular aortic xanthomatosis (author's transl)].

A 56-year-old woman with familial heterozygous type II hyperlipoproteinaemia and tendinous xanthomas, presented the unusual findings of acquired supravalvular aortic stenosis associated with a congenital stenosis of the orifice. Analysis of clinical, paraclinical, and particularly pathological data confirmed the existence of several associated lesions: congenital hypoplasia of the aortic ring and proximal aorta, calcified valve stenosis probably increased by the dyslipidaemia, and finally and principally, supravalvular stenosis formed of a veritable circular rim of atheromatous material, making up a second haemodynamic obstacle. It is probable that the pre-existing congenital aortic lesions in this case, apart from the hyperlipoproteinaemia, account for the observation, not previously reported in a heterozygous type II hyperlipoproteinaemia, of massive supravalvular atheromatous deposits. This latter of acquired lesion is described in 9 cases reported in the literature with a homozygous form of familial hypercholesterolaemic xanthomatosis, the atheromatous deposits in the proximal aorta appearing earlier in these patients, and in the absence of pre-existing anatomical anomalies.

Aorta↗
PubMedDate not supplied

Apo E allele frequency in primary endogenous hypertriglyceridemia (type IV) with and without hyperapobetalipoproteinemia.

Apolipoprotein E polymorphism is responsible for the existence in the population of six apo E phenotypes determined by three alleles acting at a single gene locus. We have previously reported an enrichment in the epsilon 2 allele and the E2-bearing phenotypes in an unselected sample of subjects with primary hyperlipidemia consisting mainly of endogenous hypertriglyceridemia (Type IV). A study was carried out on 214 Type IV hypertriglyceridemic subjects to determine whether there was the same distribution in subjects with hyperapobetalipoproteinemia as in those without. The study showed that the relative enrichment in the epsilon 2 allele was associated only with Type IV subjects without hyperapobetalipoproteinemia. Since hyperapobetalipoproteinemia is a presumed marker for familial combined hyperlipidemia (FCHL), this finding may provide further evidence that FCHL and familial hypertriglyceridemia, both associated with a Type IV lipoprotein pattern, are truly separate disease entities.

Adult↗