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Biomedical subjects

G Geoffroy

Publications and source records attributed to G Geoffroy.

At least 55 records · Page 3Linked to original sources
PubMed1980

Pathomechanics and management of scoliosis in Friedreich ataxia patients: preliminary report.

The preliminary results based on a one year study on the evolution and management of scoliosis are presented. Twenty-one patients were followed in the Neuro-Muscular Disease Clinic at Ste-Justine Hospital where standardized spinal radiographs were taken periodically with the Scoliosis Chariot and the Throne. The short period of observation as well as the relatively small number of Friedreich ataxia patients followed requires that these results and the following remarks be interpreted with caution. Pathomechanics -- Between the age groups I (5 - 10 years) and II (10 - 15 years), a substantial increase in the Cobb values occurs. Associated with it, an increase was observed in the thoracic and thoracolumbar projected surface area indices. The relative rotation between the thoracic and lumbar segments was presumed to be the cause of the sudden increase in the Cobb measurements. For the non-ambulatory patients, a decrease in the lumbar lordosis towards a thoraco-lumbar kyphosis as well as a sudden increase in the sacral angle and a drop in the lumbo-sacral angle were associated with the seated posture assumed by the patient. Management -- Prevention of the progression of established curves was our main objective. Careful examination of the spine, depending on the age of the child, in our preliminary study, stimulated early orthopaedic treatment in any curve of 20 degrees or more. There was always concern for curves of 30 degrees or more. In the growing child, bracing was recommended. In the older child, the curve was usually stable after sixteen years of age. Surgery was usually attempted in curves over 40 degrees in the growing child. The same curve was usually stable after the growth period. For the non-ambulatory patients, the present study suggested the prescription of a molded seat with the following characteristics: i) a posterior lumbar support, ii) low thoracic lateral supports and iii) a slight inclination of the seating system. This was presumed to be beneficial in maintaining stability of the spine. Presently, an evaluation of such a device is under investigation.

Adolescent↗
PubMed1980

Correlation between serum lipoamide dehydrogenase activity and phosphatidylcholine therapy in Friedreich's ataxia.

Serum lipoamide dehydrogenase activity and kinetics were studied in nine patients with Friedreich's ataxia before and three months after therapy with oral lecithin. Results disclosed a significant reduction in LAD inhibition by NADH in all patients after therapy. Three patients normalized their increased Km for lipoamide and one patient showed the opposite results after therapy. Two patients ceased lecithin after one month. All seven patients who remained in the trial group and one additional patient, showed subjective and objective signs of improvement in physical resistance. This study has offered some biochemical basis for the apparent clinical improvement in patients with Friedreich's ataxia who undergo lecithin therapy.

Adolescent↗
PubMed1980

The beta-amino acid transport system in Friedreich's ataxia.

Taurine and beta-alanine uptake in cultured skin fibroblasts proceeds through at least two distinct amino acid transport systems. The predominant beta amino acid uptake system which we refer to as the "Beta" system, incorporates taurine in a proportion of 95%. Beta-alanine in a proportion of 80% and does not incorporate beta-amino-isobutyric acid. A second transport system for beta-alanine seems to be operative cultured skin fibroblasts and this system shares the characteristics of system "L" for branched-chain and ring-side neutral amino acids. Results of ion depletion experiments, metabolic inhibition by drugs and blocking agents and previous kinetic studies of taurine and beta-alanine uptake in cultured skin fibroblasts failed to disclose any major difference in beta-amino acid transport between control individuals and patients with Friedreich's ataxia.

Alanine↗
PubMed1979

Dicarboxylic amino acid uptake in normal, Friedreich's ataxia, and dicarboxylic aminoaciduria fibroblasts.

Glutamic and aspartic acid uptake was measured in skin fibroblasts from patients with Friedreich's Ataxia, dicarboxylic aminoaciduria, and normal individuals. The results showed no difference in uptake kinetics of either dicarboxylic amino acids between Friedreich's Ataxia and normal cells, but reduced uptake velocities in dicarboxylic aminoaciduria fibroblasts. Friedreich's Ataxia fibroblasts were, however, less calcium-dependent and more magnesium and phosphate-dependent than controls in glucose-free incubation mixture. This difference might be related to some degree of glucose intolerance by Friedreich's Ataxia fibroblasts in culture.

Amino Acids↗
PubMed1979

Generalized giant axonal neuropathy-a case with features of Fazio-Londe disease.

We present the 8th case so far published of generalized giant axonal neuropathy. Many features of the neurological picture of this 8 year 8 month old boy were suggestive of progressive bulbar paralysis of childhood. Muscle and sural nerve biopsies disclosed typical nodular axonal swellings measuring between 10--29 nm. Ultrastructure of the inflated portions of the axon consisted almost exclusively of 10 nm filaments. Normally appearing constituents were found in the non-dilated portions of the axons with this particularity that glycogen and mitochondria were aggregated. Previous clinical and pathological evidence indicates that this rare disorder not only affects the peripheral nerves but also the whole CNS. Our case differs from the others reported in literature by its rapidly deteriorating course and by the prominent involvement of some brain-stem motor functions; we offer the theory that a link might be implicated between this entity and Fazio-Londe disease.

Axons↗
PubMed1979

[Brain tumors in children in a French Canadian environment].

Between 1964 and 1976, we have seen 197 cases of cerebral tumors in children. We have studied the frequency of each histological group of tumors, their localization, the results of the clinical investigation, their clinical manifestations and the prognosis for each group. This study has confirmed that in children brain tumors are more frequently localized in the posterior fossa (56.4%). As in other series, tumors derived from the glia represent nearly 80% of the total. Clinically, increased intro-cranial pressure is the most frequent manifestation of posterior fossa lesion (75% of cases) while cerebellar involvement was seen in 60% of these children. Brain lesions and supratentorial tumors are more insidious in their presentation and their clinical manifestations more diversified. The EEG appeared useful in the investigation of brain tumors and showed irregularities in 78% of our patients. However, a more specific diagnosis requirelography. As in previous series, the mortality rate remained high in the children we have followed, particularly for some groups of tumors (glioblastoma, medulloblastoma, brain stem lesions). It is to be hoped that with the introduction of the CT Scan, the improvement of neurosurgical techniques and the use of immuno and chemotherapy, the prognosis may be improved.

Adolescent↗
PubMed1978

Serum and platelet lipoamide dehydrogenase in Friedreich's ataxia.

Pyruvate dehydrogenase (PDH), alpha-keto glutarate dehydrogenase (alpha-KGDH) and lipoamide dehydrogenase (LAD) were measured in platelets of 11 patients with typical Friedreich's ataxia and 10 normal control subjects. Serum LAD was also evaluated in the same patients. No statistically significant changes were found in platelets for the group as a whole, although some patients had low values (more than one standard deviation below control mean). Serum LAD was significantly reduced in the patients with Friedreich's ataxia. This was not due to associated diabetes.

Blood Platelets↗
PubMed1978

Lipoamide dehydrogenase in Friedreich's ataxia fibroblasts.

Lipoamide dehydrogenase was measured in cultivated skin fibroblasts from twelve patients with Friedreich's ataxia and nine normal controls. No difference in specific activity, subcellular distribution and Vmax or Km was observed between patients and controls.

Cells, Cultured↗
PubMed1978

Platelet taurine uptake in spinocerebellar degeneration.

The uptake of 14C-taurine was studied in the platelets of 20 ataxic patients and 20 age-matched normal control subjects. No significant differences were found in uptake or kinetics of taurine between the two groups of subjects. If a transport defect in taurine exists in Friedreich's ataxia, it is not present in all tissues. Preliminary indication was obtained in favor of heterogenity of the uptake pattern between ataxic individuals.

Adolescent↗
PubMed1977

Reye's syndrome: relapses and neurological sequelae.

Twenty-two children aged 2 months to 11 years were seen at our institution from January 1970 to March 1975 with clinical, laboratory, and/or histological features consistent with the diagnosis of Reye's syndrome. There were three pairs of siblings. Severity of the illness ranged from relatively benign to rapidly fatal forms. Five received live attenuated vaccines within the three weeks prior to admission. Four relapsed 1 to 21 months after the initial episode, and in one there were multiple recurrences. Six developed major neurological sequelae. All patients graded levels IV and V by EEGs on admission subsequently died in contrast to none from grades 1 and 2. Peritoneal dialysis was carried out in the more severely affected patients. The procedure did not influence final outcome as predicted by the first EEG and is thought to be of limited value.

Alanine Transaminase↗
PubMed1976

Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia.

The 50 patients in this survey were classified by a panel of neurologists into 4 clinical sub-groups: Group Ia ("typical" Friedreich's ataxia, complete picture), Group Ib ("typical" Friedreich's ataxia, incomplete picture), Group IIa ("atypical" Frriedreich's ataxia, possible recessive Roussy-Levy syndrome), Group IIb (heterogeneous ataxias). The clinical symptoms and signs were analyzed for each of these groups. A constellation of signs constantly present in Friedreich's ataxia and obligatory for diagnosis was described. Other important symptoms, such as the Babinski sign, kyphoscoliosis and pes cavus were found to be progressive, but not essential for the diagnosis at any given time. Finally, a host of other symptoms can only be called accessory. The progression of scoliosis was found to be an important tool in the differential diagnosis of ataxias. Our study also indicates, in contrast to the opinion of some authors, that absent deep tendon reflexes in the lower limbs and early dysarthria are essential in "typical" Friedreich's ataxia.

Adolescent↗
PubMed1976

Cardiological signs and symptoms in Friedreich's ataxia.

The cardiovascular signs and symptoms were recorded in 36 patients with typical Friedreich's Ataxia (Group Ia, Ib). Seventeen patients were asymptomatic and this did not correlate with the severity of the disease. No pathognomonic clinical constellation was found to reveal the underlying cardiomyopathy.

Adolescent↗
PubMed1976

Electrocardiographic and vectocardiographic findings in Friedreich's ataxia.

Electrocardiographic and vectocardiographic changes are frequent in Friedreich's ataxia. In one of 35 patients both tests were normal. The vectocardiogram is more explicit in demonstrating the severity of the QRS changes with a right ventricular hypertrophy pattern present in 60% of cases. Serial examination of ECG tracings are recommended to monitor the cardiomyopathy in this progressive neurological disorder, in order to detect the onset of congestive heart failure, significant tachyarrythmias, or obstructive cardiomypathy.

Atrial Fibrillation↗
PubMed1976

Echocardiographic findings in Friedreich's ataxia.

Echocardiographic examination of 21 patients with Friedreich's ataxia (age 7 to 28 years) showed cardiac abnormalities in 90% of the cases. They were characterized by varying degrees of septal hypertrophy in 81%, left ventricular free wall hypertrophy in 61%, and a slight reduction of left ventricular internal dimension in 57% of the cases. Asymmetric septal hypertrophy (ASH) with a septal/left ventricular free wall ratio of over 1.3 was found in 29% of the cases, and systolic anterior motion (SAM) of the mitral valve in three patients. Two other patients showed evidence of a different type of cardiomyopathy with marked symmetric left ventricular hypertrophy and marked left ventricular enlargement.

Adolescent↗