[Central control malfunction in Wolfram syndrome: Report of one case of difficult weaning]. / Dysfonction de la commande centrale dans le syndrome de Wolfram : à propos d'un cas de sevrage ventilatoire difficile.

INTRODUCTION: Wolfram syndrome is a rare autosomal recessive genetic disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness. A neurodegenerative syndrome is usually associated, including cerebellar ataxia. A few cases of central apnea have been reported in the literature. Here, we report a case of Wolfram syndrome with respiratory symptoms that led to the discovery of central apneas as well as complicated and delayed weaning in an intensive care unit (ICU). OBSERVATION: The patient is a 39-year-old woman diagnosed with Wolfram syndrome who was admitted to an ICU for septic shock. She experienced difficult weaning before central apneas were observed while spontaneous ventilation was being attempted. After two extubation failures, cerebral MRI was performed and revealed parenchymatous atrophy of the posterior brain fossa involving the cerebral trunk, cerebellar peduncles, as well as both cerebellum hemispheres and the cerebellar vermis. Even after the patient was tracheotomized, central apneas persisted when the patient breathed spontaneously with her tracheotomy, necessitating nocturnal ventilation. CONCLUSION: While central apneas Wolfram syndrome remain rare, they should be systematically investigated due to their association with severe morbimortality.

Validation of 213Bi-alpha radioimmunotherapy for multiple myeloma.

The efficacy of radioimmunotherapy (RIT) with beta emitters has been clinically demonstrated in the treatment of refractory forms of lymphoma. Alpha-emitting radionuclides with a short half-life are also good potential candidates for RIT directed at tumor targets easily accessible to radioimmunoconjugate molecules and small enough to benefit from the short range of alpha particles (<100 microm). The purpose of this study was to demonstrate the feasibility of ex vivo purging of multiple myeloma-invaded bone marrow. Tumor cells were targeted by a specific monoclonal antibody (B-B4) coupled to 213Bi by a chelating agent (pentaacetic triamine diethylene p-aminobenzyl acid). The efficacy of alpha-RIT was assessed in vitro by analysis of thymidine incorporation, cell mortality, apoptosis of myeloma cells, and the study of nonspecific irradiation of hematopoietic cell lines not recognized by B-B4-pentaacetic triamine diethylene p-aminobenzyl acid immunoconjugate. High dose-dependent cell mortality of myeloma cells was found with radiolabeled B-B4, and this mortality was total at 30 kBq/10(5) cells. Cells were found in apoptotic state at rates of up to 40% for a dose of 7.4 kBq/10(5) cells. Nonspecific mortality was low compared with specific mortality (up to 1%).