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Biomedical subjects

M Vidailhet

Publications and source records attributed to M Vidailhet.

At least 163 records · Page 9Linked to original sources
PubMed1993

[Hemifacial spasm treated with botulinum toxin].

Botulinum toxin produces a transient presynaptic focal block at the neuromuscular junction. Thus it induces muscle weakness which has a significant beneficial effect on hemifacial spasm. Fifty-four patients were treated and received at least 2 and at the most 22 consecutive injections over a 5-year period. Injections were repeated every 9 weeks on average. The interval between injections corresponded to the time elapsed between the last injection and the re-emergence of spasms. Nineteen patients abandoned the treatment for various reasons. The most frequent side-effect was a ptosis which was observed in 1 out of 6 injections. Ptosis is due to diffusion of the botulinum toxin over a territory larger than expected. The results obtained in 42 patients were analyzed: there was no effect in 7 patients (17%); 11 patients improved by less than 50%; 13 by 50 to 70% and 11 more than 75%.

Adult↗
PubMed1993

[Multiple finger geodes in children].

Three pediatric patients with multiple geodes in the fingers are reported. This condition occurs mainly between one and three years and at seven years of age and is more common in winter. Affected fingers are swollen. Roentgenograms disclose several small lucent defects which are usually located in the middle phalanx. Several fingers are usually involved. The erythrocyte sedimentation rate is increased in virtually every case. Resolution occurs spontaneously within a few weeks or months. There is no tendency towards recurrence. Although the condition is inflammatory, exposure to cold is probably a precipitating factor.

Age Factors↗
PubMed1993

[Value of skin fibroblasts in culture for the diagnosis of mitochondrial cell dysfunction. Apropos of 5 cases with cytochrome c oxidase deficiency].

Mitochondrial respiratory chain dysfunction has been studied by two complementary methods using cultured skin fibroblasts from five patients with muscular cytochrome c oxidase (complex IV) deficiency: first, a screening test measuring lactate to pyruvate ratio (L/P) after supplementation of cultured cells; secondly, measurement of complex IV activity in whole cells. Respiratory chain defect (increased L/P ratio with decreased complex IV activity) was expressed in fibroblasts of four of the five patients. Our results show that skin fibroblasts can be helpful for biochemical diagnosis of mitochondrial respiratory chain defects.

Cells, Cultured↗
PubMed1992

Selenium, glutathione peroxidase (GSH-Px) and lipid peroxidation products before and after selenium supplementation.

Treated phenylketonuric (PKU) children are at risk of selenium deficiency. We have studied 15 treated PKU children and 30 control children. We observed significantly lower (P less than 0.0005) plasma and erythrocyte selenium, as well as significantly lower (P less than 0.0005) plasma and erythrocyte glutathione peroxidase activities (GSH-Px) in PKU children than in controls. The lipid peroxidation products, evaluated as plasma malondialdehyde (MDA), was higher (P less than 0.0005) in PKU children than in controls. Specific oral sodium selenite supplementation (Selenium: 0.13 mumol/kg/day) resulted in a rapid increase of plasma selenium and GSH-Px activity, and after 10 days and 1 month respectively significant difference is no longer observed between PKU children and controls values. Statistically significant differences in erythrocyte selenium, erythrocyte GSH-Px activity and plasma MDA between PKU and control children disappear after respectively 2 months, 4 months and 6 months of selenium supplementation.

Child↗
PubMed1992

The auditory startle response in the Steele-Richardson-Olszewski syndrome and Parkinson's disease.

The startle response to an unexpected auditory stimulus was studied in eight patients with a clinical diagnosis of the Steele-Richardson-Olszewski syndrome (SRO), 11 patients with idiopathic Parkinson's disease (PD) and 12 normal subjects. The patients with PD were studied 'on' at the time of maximal effect of their treatment; five of these patients were also studied in their 'off' state without treatment. The auditory startle response was absent in three patients with SRO: in the remaining five the latency to onset of earliest electromyography activity (EMG) of the auditory startle response was delayed and few muscles (orbicularis oculi, sternocleidomastoid and rectus abdominis) were recruited in the response. In PD the auditory startle response was similar to that recorded in normal subjects, both in terms of the pattern of muscles recruited and the amplitude of the EMG responses, but the latency of responses in orbicularis oculi and sternocleidomastoid muscles were significantly delayed. This result was not influenced by treatment with L-dopa. In patients with SRO the finding of an abnormal startle response is consistent with loss of neurons in the lower pontine reticular formation. This region is intimately involved in the startle response in animal studies. In patients with PD the late auditory startle response might be related to withdrawal of facilitatory input to brainstem centres and reticulospinal pathways from basal ganglia. The similarity of the responses in patients when 'on' and 'off' suggests these pathways are not under potent dopaminergic control.

Adult↗
PubMed1992

Cerebral venous thrombosis in Behçet's disease: clinical study and long-term follow-up of 25 cases.

Among 250 patients with Behcet's disease, we describe 25 cases of angiographically proven cerebral venous thrombosis. Intracranial hypertension was the most frequent manifestation. Two initially untreated patients relapsed. Treatment of cerebral venous thrombosis consisted of combined heparin and steroids in 19 patients, steroids alone in three, and heparin alone in three others. Neurologic symptoms improved rapidly in all. Nineteen patients received long-term anticoagulation, and two received aspirin. Relapse of cerebral venous thrombosis or development of optic atrophy did not occur in treated patients. Partial or total recanalization of the occluded sinus was frequent. After more than 3 years of follow-up, the prognosis of dural sinus thrombosis is satisfactory.

Adolescent↗
PubMed1992

In-vivo SPECT imaging of D2 receptor with iodine-iodolisuride: results in supranuclear palsy.

We assessed the potential use of [123I]iodolisuride (ILIS), a new iodine ergolene derivative, to study human striatal D2 dopamine receptors with SPECT. In normal subjects, we found that the tracer accumulated preferentially in striatum. This was prevented by high doses of haloperidol. The striatal accumulation was maximal between 60 and 180 min after injection. The striatum-to-cerebellum radioactivity concentration ratio as an index of specific binding, measured 60 min after injection, was 1.52 +/- 0.19 (mean +/- s.d.) in controls and 1.36 +/- 0.11 in patients with supranuclear palsy (p less than 0.03). Our results show that ILIS may be used to study D2 receptors with SPECT. In-vivo changes of D2 receptors in human brain may be detected with this method.

Adult↗
PubMed1991

Does ageing aggravate parkinsonian disability?

The influence of age of onset of Parkinson's disease on the severity and the pattern of motor symptoms was investigated by comparing the motor scores with and without levodopa therapy in two groups of patients divided according to age of onset (early less than 50, late greater than 60 years) and matched for disease duration (n = 69 in each group, Study I). The baseline score, that is, the motor disability of patients when off levodopa, was similar in the early- and late- onset groups. In contrast, the residual motor score, assessed when the effect of levodopa treatment was maximum and stable, was significantly higher in the late onset group. When the two groups of patients were matched, in addition, for their residual motor score, (n = 54 in each group, Study II), no difference was observed between the early and late onset groups, except for gait disorder which was more severe in older patients. These results suggest that age of onset mainly affects the response to levodopa therapy, because it may increase the prevalence of non-dopaminergic lesions of the brain, including those responsible for gait disorders.

Age Factors↗
PubMed1990

Molecular analysis of aldolase B genes in hereditary fructose intolerance.

The molecular basis of hereditary fructose intolerance (HFI) was studied in 50 subjects (41 pedigrees, 82 apparently independent mutant alleles of aldolase B) by direct analysis of aldolase B genes amplified by means of the polymerase chain reaction. The mutation A149P (ala 149----pro) was found in 67% of alleles but was significantly more common in patients from northern than from southern Europe. Two other point mutations of aldolase B were identified. A174D (C----A; ala 174----asp) was found in subjects from Italy, Switzerland, and Yugoslavia (overall frequency 16%) but not in those from the United Kingdom, France, or the United States. L288 delta C carried a single base-pair deletion causing frameshift at codon 288 and was restricted to Sicilian subjects. By testing for these mutations in amplified DNA with a limited panel of allele-specific oligonucleotides, more than 95% of HFI patients will be susceptible to genetic diagnosis.

Alleles↗
PubMed1990

Physicochemical characterization and biological activity of intrinsic factor in cystic fibrosis.

Absorption of crystalline labeled cobalamin is strongly decreased in cases of cystic fibrosis. In order to determine if this is due to an alteration or a lack of activation of intrinsic factor by proteases, the physicochemical properties and biological activity of intrinsic factor have been studied. Intrinsic factor was purified 800-fold from stimulated gastric juice of cystic fibrosis patients with a yield of 64.2%. Cystic fibrosis intrinsic factor had an estimated Mr of 57,000 in SDS-polyacrylamide gel electrophoresis. Its carbohydrate content resembled that of normal human intrinsic factor, except that the ratio fucose/sialic acid was higher (6.1 and 1.6, respectively) and that the content in N-acetylgalactosamine was decreased. The same alterations in carbohydrate composition were observed for Hc purified from cystic fibrosis saliva. Purified intrinsic factor from cystic fibrosis gastric juice was biologically active in vitro in the presence of ileal solubilized receptor as well as in vivo (Schilling test). The fate of iodinated cystic fibrosis intrinsic factor in guinea pig ileum studied by high-resolution radioautography was similar to that of normal intrinsic factor. In conclusion, despite modifications of the carbohydrate content of the molecule, the biological activity of intrinsic factor is not altered in cases of cystic fibrosis. The malassimilation of crystalline cobalamin observed in cystic fibrosis is due to a mechanism independent from intrinsic factor secretion.

Animals↗
PubMed1990

Decreased ferritin levels in brain in Parkinson's disease.

Ferritin levels were measured in postmortem brain tissue from patients dying with Parkinson's disease [treated with L-3,4-dihydroxyphenylalanine (L-DOPA)] and from control patients. Ferritin levels were decreased in the substantia nigra, caudate-putamen, globus pallidus, cerebral cortex, and cerebellum when compared with age-matched control tissues. However, in CSF from L-DOPA-treated patients and in serum from L-DOPA-treated and untreated parkinsonian patients, ferritin levels were normal. Previous studies have suggested an increased total iron content in substantia nigra of parkinsonian brain. The failure of substantia nigra ferritin formation to be stimulated by increased iron levels suggests some defect in iron handling in this critical brain region in Parkinson's disease. The reason for decreased ferritin levels throughout the parkinsonian brain is not clear but does not seem to reflect a general system deficit in ferritin.

Brain Chemistry↗