Biomedical subjects
Publications and source records attributed to G Geoffroy.
A simple radiographic apparatus standardizing foot position and simulating weight-bearing effects in the feet is described in this paper. It provides an effective means of obtaining reliable radiographic data for both ambulatory and non-ambulatory patients. This device is presently used in an on-going study on pes cavus in Friedreich's ataxia.
A three-dimensional geometric model of the foot's bony structure based on the use of a stereoradiographic technique is presented. To illustrate the potential of such a model it has been applied here to the study of cavus foot in a patient having Friedreich's ataxia. This model permits an accurate evaluation of this complex spatial foot deformity.
Spinal deformities have been evaluated in a five year retrospective study where 28 boys and 25 girls all having Friedreich's ataxia were on the average assessed once a year in a multidisciplinary clinic. Scoliosis seems somewhat more progressive in girls than in boys and more severe in non-ambulatory than ambulatory patients. Some of those scolioses are very progressive reaching 60 degrees to 100 degrees Cobb angle values requiring spinal surgery while other progress less rapidly and do well on their own. In addition it was shown that the intrinsic geometric spine curve parameters namely that of curvature and torsion are a powerful diagnostic tool in the assessment of evolutive scoliosis.
We have measured the activity of malic enzyme NADP+ dependent in the nuclear, mitochondrial, lysosomal and cytosolic fractions of cultured skin fibroblasts from twelve patients with Friedreich's ataxia and nine control subjects. Hexosaminidase, cytochrome-C-oxidase, lactate dehydrogenase and malic enzyme NAD+ dependent were used as marker enzymes. The activity of malic enzyme NADP+ dependent was not significantly reduced in the mitochondrial fraction of patients with Friedreich's ataxia as compared with controls. When corrected for possible contamination between mitochondrial and cytosolic fractions, malic enzyme NADP+ dependent activity was still not significantly reduced in patients with Friedreich's ataxia. Unless critical methodological differences were overlooked in this or previously published studies, we conclude that mitochondrial malic enzyme deficiency is not the primary genetic defect underlying Friedreich's ataxia.
Intermittent oral or rectal administration of diazepam for the prophylactic treatment of febrile convulsions has given results comparable to the continuous use of phenobarbital while limiting side effects and risks of toxicity. Since we believe that nitrazepam is a better anticonvulsant than diazepam, we performed a study to evaluate the effectiveness of this medication in the prophylactic treatment of febrile convulsions. Nitrazepam was given only when the children had fever and almost exclusively in children with a high risk of recurrence (less than 12 months of age at first convulsion; atypical convulsion; one or several previous convulsions). Thirty one children with a high risk of recurrence received nitrazepam. The rate of recurrence in this group was 19.3% after a follow-up of 16 months, compared to 45.8% in 24 children who also had a high risk of recurrence but in whom the parents refused the medication or gave it inadequately (p less than 0.05). Fifty one children with a low risk of recurrence also were evaluated and followed for at least 12 months (mean 15.4 months). Six were treated with nitrazepam, mostly because of parental anxiety, and none had a recurrence; of the 45 untreated children in this group, 6 (13.6%) had another convulsion. These results show the efficiency of nitrazepam in the prophylactic treatment of febrile convulsions.
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Cerebral commissurotomy has often been reported to control seizures in patients suffering from intractable epilepsy. However, in adults, division of the corpus callosum alone has been shown to be equally effective while considerably reducing the surgical morbidity. The present study of nine epileptic callosotomized patients suggests that callosal section can also be performed successfully and safely in children. Neurologic and concomitant psychological improvements are described.
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The preliminary results based on a three year retrospective study in cavus foot deformity of forty-four Friedreich ataxia patients regularly seen at the Neuromuscular Disease Clinic of Sainte-Justine Hospital have been presented. An accurate "weight-bearing" foot stereoradiographic technique has been recently developed by our group. Since the follow-up period with this device is not sufficient to provide statistical information, the conventional non-weight bearing technique has been utilized in this study to enable a possible comparison between the radiographs of ambulant and non-ambulant patients. Due to the present technique, the results of this study must be interpreted with caution. For 132 pairs of radiographs, 28 parameters have been analyzed. Four of these, namely the calcaneal inclination angle, the first metatarsal inclination angle, the inferior cortex of calcaneus-first metatarsal angle and the first-fifth metatarsals angle, were of particular interest. From these parameters, a preliminary quantitative description of cavus foot deformity in Friedreich's ataxia has been attempted. Three stages of evolution have been tentatively identified for this type of neurological disorder.
Orthogonal stereoradiographs are frequently utilized in determining three-dimensional geometrical parameters of human body segments. They have been applied here in the estimation of the length and elongation of the ligaments of the normal foot. Three small spherical metallic markers were respectively encrusted into the tibia and fibula, the seven bones of the tarsus and into the five metatarsals of an amputated lower limb to identify uniquely their spatial location. The foot was then positioned on a rotating platform. Standardized antero-posterior and lateral radiographs were taken. Afterwards the foot was dissected and the proximal and distal insertions of most of its ligaments were located by means of spherical markers. A second series of orthogonal radiographs were taken of each of the fourteen bones. The radiographs were digitized. The length of each ligament and elongation for a simple and complex movements were calculated by means of a computer program. The results of a simple movement of rotation representing a normal 20 degree dorsiflexion at the talocrural joint and of complex movements of rotation stimulating an abnormal high arch such as encountered in Friedreich's ataxia are presented and discussed.
A clinical and biochemical evaluation of twenty-two patients with Friedreich's Ataxia and ten normal controls was undertaken in 1980 to assess the effect of lecithin and linoleic acid supplements on the course of the disease. The trial consisted of two consecutive six months periods on either supplements in a double-blind crossover fashion. Clinical appraisal was performed with regards to the following parameters: joints mobility, muscle strength, equilibrium, coordination, motor accuracy, speech and numerous day to day activities. Blood samples were obtained at the beginning and in the course of the trial for enzymatic determinations. This paper describes the methodology of the study.
Twenty-two patients with Friedreich's Ataxia and ten normal controls were followed for one year and assessed as to their clinical performance after two successive six-month periods of lecithin or safflower oil. Results demonstrated no significant difference in performance scores according to group assignation, neither in patients nor in controls. According to stages, two patients in stage I and to a lesser degree, one patient in stage IV showed better scores for muscle strength and some motor accuracy and coordination tests with lecithin. Controls as groups maintained positive scores in all tests. Patients as groups showed negative mean values in nine out of eleven tests. Again as groups, patients receiving safflower oil demonstrated a mean 8% less deterioration than patients receiving lecithin. This study demonstrates that objective clinical tests and the participation of normal controls are a must in a therapeutic trial implicating patients with a progressive disorder such as Friedreich's Ataxia. The possible role of linoleic acid as the active factor from which clinical improvement proceeded in some specific patients and with early functional stages of the disease, has to be considered and reevaluated in the near future.
Lecithin and safflower oil brought about the same changes in serum LAD activity and kinetics in patients with Friedreich's Ataxia as in controls when results of this double-blind crossover study were analyzed according to group assignation. According to functional stages, pretrial LAD activity decreased with advancing severity while Km for lipoamide increased. Lecithin and safflower oil supplements corrected the elevated Km for lipoamide but produced a further reduction in LAD activity. These changes may have been due to the increased intake of linoleic acid, a precursor of lipoic acid, which is present in high percentage in both lecithin and safflower oil. Results of the biochemical study thus agreed with the clinical data gathered during the course of the one-year trial in suggesting that linoleic acid may well have been the active factor through which biochemical and clinical improvement was previously observed in patients with Friedreich's Ataxia supplemented with lecithin.
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.
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