Search PubMed⌕ Search

Biomedical subjects

C Tranchant

Publications and source records attributed to C Tranchant.

At least 91 records · Page 5Linked to original sources
PubMed1992

Malignant thymic lymphoblastic lymphoma and myasthenia gravis: an exceptional association.

Thymic lymphoblastic lymphoma and myasthenia gravis rarely coexist. Only two cases have been reported and we describe here a third case. A 60 year old man presented a typical history of myasthenia gravis, confirmed by neurological investigations including electromyography. Chest X-ray revealed an anterior mediastinal tumor. At thoracotomy, a 60 mm mass adherent to the pericardium was excised and a lymphoblastic lymphoma was diagnosed. The lymphogram showed enlarged pelvic and abdominal lymph nodes consistent with lymphoma. A m-BACOD chemotherapy regimen gave rapid and complete remission of both lymphoma and myasthenia gravis and the patient is now alive 25 months after the start of chemotherapy with no evidence of disease.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1991

Prenatal diagnosis of congenital myasthenia with arthrogryposis in a myasthenic mother.

We studied two children born to a myasthenic mother. The first child, a female, had multiple flexion contractures. She died 1 h after birth. In the second pregnancy, 3 years later, ultrasonographic examination at 20 weeks showed decreased fetal movements and multiple flexion contractures. The pregnancy was interrupted. Eight other cases of congenital myasthenia with arthrogryposis are known; four of them are siblings. The recurrence risk may be as high as 100 per cent. Our second case demonstrates that prenatal diagnosis is possible early enough to allow termination of pregnancy.

Adult↗
PubMed1991

[Mannosidosis type II].

Four out of 7 siblings born of non-consanguineous parents have presented psychomotor retardation, macrocephaly and facial dysmorphism associated in 2 of them with thoraco-lumbar kyphosis and in one of them with recurrent pulmonary infections which had resulted in death. Chromatography of oligosaccharides displayed a characteristic mannosidosis profile. In addition, D-mannosidase activity was very low in leucocytes and fibroblasts. The father and mother showed no clinical abnormality and had no pathological urinary oligosaccharide excretion, but their leucocyte and fibroblast D-mannosidase activity was reduced. These cases give the authors an opportunity to describe the clinical and biochemical features of mannosidosis, which in its type II enables the patients to survive into adulthood, and to underline the value of D-mannosidase assays to detect subjects with this anomaly.

Adult↗
PubMed1991

[Cerebellar cavernous angioma, cervical dystonia and crossed cortical diaschisis].

On four occasions since 1978, this 53 year-old woman presented with a right hemicorporal hypotonia, symptomatic of a hemispheric cerebellar syndrome. In 1981, she experienced the progressive development of a cervical dystonia. CT scan and RM scan showed a cavernous angioma in the right cerebellar hemisphere. The 18F-2-fluoro-2-deoxy-glucose PET scan revealed a right cerebellar and a contralateral cortical and striatal hypometabolism. This crossed cerebello-cortical diaschisis can be interpreted as a functional interruption of the cerebello-cerebral pathways. This case raises the question of the role played by a cerebellar lesion in the development of a focal dystonia.

Cerebellar Neoplasms↗
PubMed1991

[Arthrogryposis and maternal myasthenia gravis. Risk of recurrence].

A 26-year old myasthenic woman whose disease had been in remission for more than 4 years gave birth, at the end of 2 induced pregnancies, to 2 stillborn infants with arthrogryposis. The presence of inherited antibodies directed against acetylcholine receptors most probably does not explain the diffuse retractions. This case illustrates the risk of recurrent foetal arthrogryposis after a first abnormal pregnancy in women with myasthenia gravis.

Adult↗
PubMed1991

[A differential diagnosis of quadricipital amyotrophy syndrome: bilateral disinsertion of the quadriceps tendon].

When it occurs bilaterally, disinsertion of the quadriceps tendons may suggest quadricipital amyotrophy syndrome. Questioning and physical examination of the locomotor system usually lead to a diagnosis of mechanical lesion involving the extensor mechanism of the knee. If necessary, this diagnosis can be confirmed by ultrasonography and MRI of the knee. A search for predisposing factors may result in a specific treatment, but only surgery provides functional improvement.

Aged↗
PubMed1991

[Mutation of codon 117 of the prion gene in Gerstmann-Sträussler-Scheinker disease].

We report the clinical progression of the Gerstmann-Sträussler-Scheinker disease (GSS) in a family of Alsatian origin. The age of onset and duration of evolution were variable. The clinical picture became more complex over the generations: isolated dementia in the first generations, then, more recently, a triad of pyramidal, pseudobulbar syndrome and dementia associated with symptoms indicating spread of damage to the spinal cord and cerebellum. Study of the prion gene showed that in all patients analyzed and in 10 healthy family members, there is a double mutation of codon 117 leading to loss of the restriction site PvuII and to the replacement of an alanine by a valine. We did not find the mutation of codon 102 reported in 5 GSS families. The role of these mutations in the pathogenesis of the disease is unclear: marker for a particular susceptibility to the encephalopathies due to the prion, or direct role in the disease? Further study of the family, particularly the healthy carriers, could suggest the answer. GSS seems to be an especially useful model for the study of the role of a foreign abnormal protein in the synthesis and regulation of host proteins.

Chromosome Mapping↗
PubMed1991

[Pallido-pyramidal syndrome: an unrecognized entity].

A female teenager, without familial history, presented, since the age of 13 years, with gradually worsening pyramidal signs and a parkinsonian syndrome controlled by L-Dopa in small doses. The clinical complex was suggestive of the pallido-pyramidal syndrome, an entity which was individualized in 1954 by Davison on the basis of 5 young patients who had pyramidal signs and a parkinsonian syndrome. In only one of these patients a pathological study was carried out, disclosing a non specific degeneration without inclusions, involving the pallidum, substantia nigra and pyramidal tract. We hope that this report will encourage other authors to report similar cases, since only the study of new cases will determine whether the pallido-pyramidal syndrome is a true entity.

Adolescent↗
PubMed1990

Antibodies to cerebellar soluble lectin CSL in multiple sclerosis.

Cerebrospinal fluid samples from 239 patients with various neurological disorders were tested for the presence of autoantibodies to an endogenous mannose-binding protein, the cerebellar soluble lectin CSL, by means of an immunoblotting test with rat CSL as antigen. 47 of 51 patients with multiple sclerosis were positive for anti-CSL compared with 30 of 188 patients with other neurological disorders. 14 of the 30 false-positive patients were over 60 years old, an age group not typical of multiple sclerosis patients. The specificity of the test for multiple sclerosis was 85% and the sensitivity 93.5%. The possibility that CSL is an important immunological target in multiple sclerosis allows new insights into the possible causes and development of this disorder.

Adult↗
PubMed1990

MR findings in mannosidosis.

MR findings are reported in three patients presenting mannosidosis. Among a family of 8 children, 4 presented typical clinical and biological abnormalities related to mannosidosis. Brain MR examinations including sagittal T1 and axial T2 sections were obtained in three patients of this family (one 25-year-old male, one 34-year-old female, and one 35-year-old female). MR scans demonstrate seven types of modifications: (1) brachycephaly, (2) thick calvaria, (3) verticalization of the chiasmatic sulcus, (4) poor pneumatization of the sphenoid body, (5) partial empty sella turcica (6) cerebellar atrophy, and (7) white matter signal modifications. High signal abnormalities involving the parieto-occipital white matter are identified on axial T2-weighted scans in the three patients and are probably related to demyelination and associated gliosis as described previously by several authors on specimens.

Adult↗
PubMed1990

Immediate effects of 14 non MAOI antidepressants in rats with spontaneous petit mal-like seizures.

1. Wistar rats of a strain presenting spontaneous petit mal-like seizures were injected intraperitoneally with graded doses of 14 non-monoamine oxidase inhibitor antidepressants and the immediate effects on behavior and the EEG were recorded. 2. Amineptine and nomifensine, the two drugs interacting with dopaminergic neurotransmission, reduced the duration of spontaneous spike-wave discharges (SWD) and were thus potentially antiepileptic. 3. Trazodone increased SWD duration. 4. The antidepressants, imipramine-like (imipramine, chlorimipramine, desipramine, metapramine and amitriptyline) and non-imipraminic (minaprine, maprotiline, viloxazine, mianserin, fluvoxamine and indalpine), and the 3 noted above, had potentially convulsive effects.

Animals↗
PubMed1990

Immunochemical, molecular genetic, and transmission studies on a case of Gerstmann-Sträussler-Scheinker syndrome.

Using immunostaining with anti-prion protein (PrP) antiserum, we detected numerous kuru plaques in the brain of a 24-year-old man with Gerstmann-Sträussler-Scheinker syndrome. Immunoreactivity on Western blotting of the protease-resistant PrP fraction from the frozen brain was weak. PrP gene analysis showed substitution of alanine to valine in codon 117 but no substitution in codon 102. As the experimental transmission of the disease to mice was negative, a pathogen of a relatively low infectivity may cause the disease in predisposed family members.

Adult↗
PubMed1990

[Oculomotor paralysis and Lyme disease].

Lyme disease is an infectious multi system disorder caused by the spirochète Borrelia Burgdorferi. Neurologic syndromes occurring during the second stage of the illness are common and the neurologic feature is extremely variable. We report a case of Lyme disease with diplopia. In contrast with most reported cases of ocular motor involvement in Lyme disease, no other systemic symptoms were detected. The serodiagnosis, although mildly positive, was confirmed by western blot antibodies analysis and evaluation of CSF antibodies. Symptoms readily vanished 3 days after the introduction of antibiotherapy. The efficacity of antibiotic therapy on the quality and timing of functional recovery justifies the use of this therapy.

Adult↗
PubMed1990

[Magnetic resonance imaging after a one-month interval of lesions of multiple sclerosis in 2 populations, one during an acute attack treated with methylprednisolone, the other stable with no treatment].

Changes in clinical symptoms and MRI lesions of multiple sclerosis (MS) were evaluated on two occasions, one month apart, in 30 patients. Seventeen patients (group 1) with acute exacerbation were treated with methylprednisolone in high, then decreasing doses during a total of 30 days. MRI examinations were performed before and at the end of treatment. The remaining 13 patients (group 2) had been clinically stable for more than 6 months and received no treatment; here again, MRI was performed at 30 days' interval. All patients in group 1 showed functional improvement. The MRI lesions remained stable in 7 of group 1 patients and in 4 of group 2 patients. In the remaining 19 patients (10 in group 1 and 9 in group 2), the number, size and location of MRI lesions were found to have changed over 1 month. There was no correlation between clinical changes and the modification observed at MRI. This study confirms that high-dose corticosteroids are effective, at least clinically, in acute exacerbations, but the main results are that MS is a continually evolving disease, that changes rapidly occur in the lesions observed at MRI and that corticosteroids do not seem to influence the course of MRI lesions. Our study also suggests that MRI is inadequate to evaluate the effectiveness of short-time treatments of MS.

Follow-Up Studies↗
PubMed1990

[Contribution of MRI to the topography of oculomotor disorders in multiple sclerosis].

Magnetic resonance imaging (MRI) was performed in 20 patients with multiple sclerosis and abnormal electro-oculographic examination. All but 2 patients showed MRI abnormalities in the infratentorial region: hypersignal on T2-weighted sequences and/or images of atrophy. Usually, each patient had multiple abnormalities, which could prevent anatomico-oculographic correlations. With oculomotor disorders of cerebellar origin, correlations between clinical findings and MRI images were satisfactory, but with disorders due to brainstem lesions correlations were not so good, as shown by the results in 9 patients with internuclear ophthalmoplegia.

Adult↗
PubMed1989

Stimulating effects of prednisolone on acetylcholine receptor expression and myogenesis in primary culture of newborn rat muscle cells.

Prednisolone at concentrations of 10(-5) to 10(-8) mol/l, added to 3-day (day D + 2) tissue cultures of newborn rat myogenic cells at the time myoblasts are beginning to fuse, increases the level of myotube acetylcholine receptor expression at the 8th day (day D + 7) of culture. This effect is associated with increases in the number and size of the formed myotubes, not with a changed affinity of the receptor for its ligand, and is very probably mediated by one or more extracellular proteins the synthesis of which is induced early by the presence of prednisolone.

Animals↗
PubMed1989

[Mechanism of action of glucocorticoids: role of lipocortins].

Glucocorticoids have long been used for their antiinflammatory properties, but the mechanism of this antiinflammatory effect has only recently been clarified. It involves 3 steps: 1. activation of a cytoplasmic receptor following binding of the glucocorticoid; 2. binding of the activated receptor at a specific site on nuclear DNA; 3. synthesis of one or more specific lipocortin proteins. The lipocortins inhibit phospholipase A2, one of the first links in the arachidonic cascade and a principal agent in the inflammatory reaction. Other therapeutic effects of the glucocorticoids, such as immunosuppression and regulation of cellular growth and differentiation, seem to involve a similar mechanism: effect on a cellular receptor, then on the genome, and transcription leading to the synthesis of specific proteins. But are these proteins that are synthetized, different, or are they derivatives of the same family, the lipocortins, the properties of which might be modulated according to the nature of the target cell and the pathological conditions?

Animals↗