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Biomedical subjects

M Audebert

Publications and source records attributed to M Audebert.

9 recordsLinked to original sources
PubMed1979

[Complications of digestive involvement in CRST syndrome. 3 cases (author's transl)].

In CRST syndrome, latent oesophageal involvement is common but not usually associated with any clinical manifestations. Involvement of the small intestine is rare. In three patients there occurred severe complications related to digestive involvement in the condition. In one case, involvement of the small intestine was associated with functional obstruction. In the other two patients, oesophageal involvement progressed to very tight stenosis of the lower end of the eosophagus. The generally accepted bening nature of this form of scleroderma must therefore be questioned.

Aged↗
PubMed1977

[Carpenter's syndrome].

A newborn boy presented with an acrocephaly characterized by a coronal craniosynostoses, open sagittal sutures and abnormally high and straight forehead. He was the only child of young, unrelated, healthy parents; there was no familial history of dysmorphy. Facial asymmetry was important and associated with posterior cleft palate, syndactylia of the tips and polydactylia of feet, due to a splitting of the first metatarsus. The child also had a congenital heart disease, like in half of the 15 published cases. In older children, mental retardation is usually observed, often associated with obesity and hypogonadism. Polydactylia permitted to exclude Apert's acrocephalosyndactylia in which there is a normal number of finger arms and which seems to be a dominant mutation, while the transmission of Carpenter's syndrome appears autosomal recessive, thus requiring restrictive genetic counselling.

Abnormalities, Multiple↗
PubMedDate not supplied

[Duhring's and coeliac's diseases (author's transl)].

An atrophy of villi without digestive troubles is found in a 3 1/2 years old boy with a typical Duhring's disease. This observation proves the interest to research an enteropathy in case of dermatitis herpetiformis, and on the other hand the gluten free diet's efficacity on the cutaneous lesions. The authors consider cutaneous lesions's pathogeny and the antigenic relations between these two diseases.

Antibodies↗
PubMedDate not supplied

[Folate and the nervous system (author's transl)].

The responsibility of the folate deficiency in some neuropsychiatric disorders is recent knowledge. The role of the folate on the nervous system is not yet well definite, but the action on the metabolism of the amino-acids, on the purine and the pyrimidine synthesis and on the metabolism of the catecholamins are certainly essential. The neuropsychiatric diseases secondary to the folate deficiency are numerous: dementia, schizophrenia like syndromes, insomnia, irritability, forgetfulness, endogenous depression, organic psychosis, pueperal psychosis, peripheral neuropathy, myelopathy (spinal cord syndrome and/or pyramidal tract damage), restless legs syndrome. Clinically the diagnosis may be difficult with sub acute combined degenration secondary to the pernicious anaemia, and the dosage of the folate (in serum, in red-cells and in cerebrospinal fluid) is necessary. The congenital defects in the uptake or utilization of the folate are associated with neuropsychiatric disturbances. The treatment is easy and safe if the vitamin B12 deficiency is eliminated and if employed with caution in epileptic patients because folate can induced seizures.

Anticonvulsants↗