Product development for weaning in respiratory care.

This paper describes the development of a therapeutical device for the support of the weaning process in respiratory care, following the decannulation of the breathing tube. The new product is to enhance the healing of a temporary, percutaneous tracheostoma by the provision of visual contact to the stoma or the wound respectively, allowing to intervene at an early stage if required. Interventions are facilitated by the new device by means of variable adaptors, in particular for (tracheal) suctioning, (temporal) insertion of a placeholder cannula or contribution of oxygen and by the reinsertion of a breathing tube if necessary.

Clinical experience with flow cytometric separation of human X- and Y-chromosome bearing sperm.

Numerous methods to separate human X- and Y-bearing sperm have been reported with unconfirmed separation after DNA analysis and inconsistent birth results. Successful flow cytometric separation of sperm resulting in alteration of the sex ratio of young born has been demonstrated in several animal species. Flow cytometric separation of human X- and Y-bearing sperm (MicroSort) has been confirmed after DNA analysis by fluorescence in situ hybridization (FISH).

Preliminary study of the incidence of disomy in sperm fractions after MicroSort flow cytometry.

Using triple colour fluorescent in-situ hybridization (FISH) we have evaluated, on a blind basis, the disomy level for chromosome 21 and the sex chromosomes in flow cytometric sorted sperm samples. There were no statistically significant differences in the disomy rates when comparing the sorted samples (either for X- or Y-bearing spermatozoa) with non-sorted samples. There were no diploid spermatozoa observed in any sample group after MicroSort processing.

Human live birth and sperm-sex ratios compared.

The human secondary sex ratio is compared with the percentage of Y-chromosome bearing spermatozoa in human semen. Live birth sex ratio is about 51.3%, whereas the overall percentage of Y-chromosome bearing spermatozoa in our study samples was 50.

Preimplantation genetic diagnosis for spinal muscular atrophy type I.

Objective: Couples with children who have spinal muscular atrophy type I (SMA) face a 25% risk of having affected offspring with spontaneous conception. Preimplantation genetic testing (PGT) is possible for the deletions in the survival motor neuron (SMN) gene that have been identified in 98% of SMA type I cases. PGT would provide new reproductive options for families at risk for SMA.