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Biomedical subjects

A Barbeau

Publications and source records attributed to A Barbeau.

At least 73 records · Page 4Linked to original sources
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

Increased plasma catecholamines in patients with Friedreich's ataxia.

We studied free plasma catecholamines in 23 patients with Friedreich's ataxia, having a mean age of 22 +/- 9.6 (SD) years. Conjugated catecholamines were also studied in 10 patients. Mean plasma norepinephrine and epinephrine were significantly higher than controls both in the supine and standing positions. In total 15 out of 23 patients (65%) had increase free and/or conjugated plasma catecholamines. The increased in plasma catecholamines was more marked in patients with severe neuromotor impairment. Among the patients with left ventricular concentric hypertrophy (wall thickness greater than 12 mm), only 3 had no demonstrable sympathetic hyperfunction. Since the high local concentrations of norepinephrine at the site of release from sympathetic nerve terminals may serve as a trigger for the hypertrophic response of the myocardial cell, it is suggested that early pharmacological intervention could prevent or limit the cardiomyopathic process or its clinical consequences.

Adolescent↗
PubMed1982

Plasma catecholamines in Friedreich's ataxia assayed using high performance liquid chromatography with electrochemical detection.

Resting levels of plasma norepinephrine, epinephrine and dopamine were determined in 9 patients diagnosed as having Friedreich's Ataxia using a relatively new assay method, HPLC with electrochemical detection. Levels of norepinephrine and dopamine were found to be significantly elevated in patients as compared to controls while epinephrine, though increased, was not significantly higher. These results confirm in most parts previous findings of Pasternak et al. of increased plasma catecholamines and demonstrate the sensitivity and utility of the present method for the routine assay of plasma catecholamines.

Cardiomyopathy, Hypertrophic↗
PubMed1982

A possible genetic pattern of taurine urinary excretion in Friedreich's Ataxia.

The taurine urinary excretion pattern, before and after an oral load of 250 mg taurine, was studied in normal control subjects and in patients with typical Friedreich's ataxia. It was demonstrated that in both situations the ataxic patients fell within the sub-types of "intermediate" and "high taurine excretors" while non were "low taurine excretors". It was also demonstrated that the excretion of taurine after a load in the obligate heterozygotes parents of the ataxic patients was intermediate between normal controls and patients. It is postulated that patients with Friedreich's Ataxia lack normal regulation of the high affinity-low capacity uptake system for taurine (the TH system) in the brush border of kidney tubules. The low affinity-high capacity uptake system in the same membranes (the TL system) appears to be normal in Friedreich's patients. The normal allele could be called THN and the variant THF and this trait would be inherited in an autosomal recessive fashion if it is linked to the Friedreich phenotype. Whether this finding is or is not the basic genetic defect in Friedreich's Ataxia will require more studies to clarify, but it is of interest to note that a similar pattern appears to be present in the fibroblasts of these patients.

Adult↗
PubMed1982

Reduced formation of hippuric acid after oral benzoic acid in Friedreich's ataxia.

We have observed a markedly decreased formation of hippuric acid after benzoic acid load in patients with typical Friedreich's Ataxia compared to normal control subjects. Since there is evidence for normal or even enhanced tauro-conjugation in the bile of patients with this disease, with a decreased G/T ratio, it is unlikely that co-factor or enzyme concentrations are the cause of this defect. We postulate decreased availability of the enzyme for glycine conjugation either to bile acids in the usual situation or to benzoic acid in the artefactual test condition. This could be due to the enzyme's preference for an increased amount of taurine substrate in the liver. The relationship of this observation to the other biochemical changes observed in Friedreich's Ataxia must still be established.

Adult↗
PubMed1982

Quantitative metabolic profiling of alpha-keto acids in Friedreich's ataxia.

The plasma distribution of alpha-keto acids was measured in 26 subjects including 8 patients with Friedreich's ataxia, 8 with the recessive spastic ataxia of Charlevoix-Sageunay and 10 healthy volunteers. The groups were matched with regards to age, sex, weight and the study was conducted under standardized dietary intake. The result indicate significant differences in the alpha-keto acids distribution between the groups.

Adult↗
PubMed1982

Leukocyte valine dehydrogenase activity in Friedreich's ataxia.

We studied the activity of valine dehydrogenase (VDH) in leukocytes of 14 Friedreich's ataxia patients and of 14 normal control subjects. There was a significant 26% mean decrease in enzyme activity in the patients, a finding which could be responsible for the chronic accumulation of some alpha-keto acids with toxic metabolic consequences in that disease. However the deficiency was not present in all patients with the typical symptoms, nor was its magnitude sufficient to be considered the primary genetic defect in Friedreich's Ataxia.

Adult↗
PubMed1982

Effect of a valine load test on plasma alpha-keto acids in Friedreich ataxia.

To test the physiological significance in vivo of our previous in vitro finding of reduced valine dehydrogenase (VDH) activity in patients with Friedreich's Ataxia, we subjected ataxic patients and controls to an oral valine load test (1.0g) and measured the levels of branched chain alpha-keto acids in the plasma for 24 hours. We demonstrated a significantly higher peak for a alpha-keto isovaleric acid in Friedreich's Ataxia and a general trend towards higher than control values in all other alpha-keto acids measured, and at all times in the experiment. These changes are compatible with the postulated defect in regulation of the activity of VDH in this illness, but because of their small amplitude, they also indicate that a VDH deficiency is not the genetic defect in Friedreich's Ataxia.

Adult↗
PubMed1982

Friedreich's disease 1982: etiologic hypotheses a personal analysis.

The author reviews the arguments for and against the four etiologic hypotheses in Friedreich's disease that have been proposed since 1974: the "pyruvate hypothesis", the "lipid-membrane hypothesis", the "energy-defect hypothesis" and finally the "taurine hypothesis". While none of these hypotheses are mutually exclusive, the author shows that all of these mechanisms play some role in the pathophysiology of the symptoms, but that only the "taurine hypothesis" appears to be compatible with all the known facts and the biochemical abnormalities reported. The author proposed that the taurine retention defect (possibly due to a block in the high affinity-low capacity transport of taurine - The TH System) is a primary event in Friedreich's disease. Whether it is the primary genetic event still has to be determined.

Amino Acids↗
PubMed1981

The hypotensive effect of centrally administered neurotensin in rats.

We have evaluated the cardiovascular effects of intracerebroventricular (i.c.v.) injections of neurotensin (NT) in pentobarbital-anesthetized rats. In most animals, the i.c.v. injection of NT (5.4, 10.8 and 16.2 nmol/rat) induced a dose-dependent fall of the arterial blood pressure. This effect was usually rapid in onset (30-60 sec) and of short duration (approximately 1-4 min). It was not preceded nor accompanied by any significant alteration of the heart rate. In about 25% of the animals, the vasodepressor effect of i.c.v. injections of NT was long lasting (30-45 min). Conscious rats were much less sensitive than anesthetized animals. The hypotensive effects of intravenously (i.v.) administered NT was fully maintained in animals made tolerant to the hypotensive effect of centrally administered NT. Similarly, the animals made unresponsive to i.v. injections of NT either by repeated i.v. injections of NT (e.g. tachyphylaxis) or by a chronic treatment with compound 48/80, still responded normally to centrally administered NT. The results suggest the existence of at least two anatomically distinct sites of action through which NT can induce hypotension in rats. One appears to be located in the periphery and the other, in the central nervous system.

Animals↗
PubMed1981

Differential neurobehavioral effects of neurotensin and structural analogues.

Neurobehavioral effects of neurotensin and structural analogues in which tyrosine in position 11 was replaced by either its d-isomer [D-Tyr11]-NT, phenylalanine [Phe11]-NT or D-phenylalanine [D-Phe11]-NT were studied. Results demonstrate that whereas neurotensin and [Phe11]-NT significantly decreased motor activity in rats, [D-Tyr11]-NT and [D-Phe11]-NT produced a marked and significant increase in activity. Such dichotomous action between analogues was not found for the hypothermic and muscular relaxation effects of neurotensin.

Animals↗
PubMed1981

[Epilepsy with aggressive behavior. Two cases with depth-electrodes recordings (author's transl)].

Aggressive behavior is popularly thought to be frequently associated with the epileptic character and particularly temporal lobe disorders. However a thorough review of the literature fails to reveal any clear-cut evidence for this belief during inter-ictal periods. Some rare cases of ictal aggressive behavior have been reported but documentation has been difficult because of the previous lack of sophisticated observation equipment and because of difficulties of being present at the time of the seizure. Two rare but definite cases of epileptic aggressive behavior are presented with the help of videotape and E.E.G. recording on the scalp and with depth-electrodes.

Adolescent↗