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Biomedical subjects

G Garnier

Publications and source records attributed to G Garnier.

At least 37 records · Page 2Linked to original sources
PubMed1994

A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds.

To determine the molecular defect accounting for the deficiency of pulmonary surfactant protein B (SP-B) in full-term neonates who died from respiratory failure associated with alveolar proteinosis, the sequence of the SP-B transcript in affected infants was ascertained. A frameshift mutation consisting of a substitution of GAA for C in codon 121 of the SP-B cDNA was identified. The three affected infants in the index family were homozygous for this mutation, which segregated in a fashion consistent with autosomal recessive inheritance of disease. The same mutation was found in two other unrelated infants who died from alveolar proteinosis, one of whom was also homozygous, and in the parents of an additional unrelated, affected infant, but was not observed in 50 control subjects. We conclude that this mutation is responsible for SP-B deficiency and neonatal alveolar proteinosis in multiple families and speculate that the disorder is more common than was recognized previously.

Amino Acid Sequence↗
PubMed1994

[Associated lipid pneumonia and bronchiolo-alveolar carcinoma].

The authors report a new case of bronchio-alveolar carcinoma which developed on a background of iatrogenic exogenous lipid pneumonia; this association is extremely rare (less than 20 cases in the literature) and poses the problem of possible cancer developing in the centre of the lipid pneumonia.

Adenocarcinoma, Bronchiolo-Alveolar↗
PubMed1993

Paraneoplastic Raynaud's phenomenon.

A testicular tumour could be diagnosed by the occurrence of a Raynaud's phenomenon complicated by severe digital arteritis. The arteritis rapidly regressed under prostacyclin therapy. Such vascular manifestations are frequent in testicular carcinoma, but they usually develop after chemotherapy. To our knowledge, this is the first case where they preceded the diagnosis and specific treatment of a tumour of the testis.

Adolescent↗
PubMed1993

Lymphoma developing in a patient with rheumatoid arthritis taking methotrexate.

We report one case of non-Hodgkin lymphoma in a patient, with a 30-year history of rheumatoid arthritis, taking low dose methotrexate weekly over a 10-month period. The mild immunosuppression that occurs with methotrexate therapy probably places patients with rheumatoid arthritis at added risk of developing lymphoproliferative diseases, but coincidence cannot be excluded.

Aged↗
PubMed1993

Neutrophilic dermatosis associated with chronic neutrophilic leukemia.

Chronic neutrophilic leukemia is an uncommon myeloproliferative disorder. We report a new case that fulfills the clinical and biologic criteria for such a diagnosis. The hematologic disease was revealed by a neutrophilic dermatosis that finally disappeared spontaneously after a duration of 1 year. Despite the lack of parallelism in the course of dermatologic and hematologic manifestations, we believe they were strongly linked. Occurrence of neutrophilic dermatoses in the course of other myeloproliferative disorders is well known. However, in our case, clinical and histologic features could not be used to distinguish between atypical Sweet's syndrome and specific cutaneous lesions because of the mature appearance of both skin and blood neutrophils.

Aged↗