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Biomedical subjects

L Mays

Publications and source records attributed to L Mays.

5 recordsLinked to original sources

Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits.

In a sporadic case of autism and language deficit due to auditory processing defects, molecular genetic studies revealed that a chromosomal deletion occurred in the 13q12-->q13 region. No chromosome abnormalities were detected in the parents. We determined that the deletion occurred on the paternally derived chromosome 13. There are two previous reports of chromosome 13 abnormalities in patients with autism. The deletion in the subject described in this paper maps between the two chromosome 13 linkage peaks described by Bradford et al. (2001) in studies of subjects with autism and language deficits. The 9-Mb region deleted in the patient described here contains at least four genes that are expressed in brain and that play a role in brain development. They are NBEA, MAB21L1, DCAMKL1 and MADH9. These genes therefore represent candidate genes for autism and specific language deficits.

Autistic Disorder↗

Can a PC-based model assist the management of waiting lists? Observations from a case study.

Routine statistics provide only limited support to doctors and managers responsible for the management of surgical waiting lists. Therefore, a study developed a PC-based model that could assist medium-term planning activities that, for example, aim to reduce excessive waiting times. The model allows the user to create scenarios that describe possible future activity levels and calculates how these will affect waiting list behaviour. A key feature of the model is that it recognizes that a waiting list consists of different categories of patients that move through the list at different speeds. The model can be used with routinely available data. The model was tested at three sites where it proved capable of providing valuable insights and assisting doctors and managers to better understand waiting list dynamics. However, although the model quantified the changes required to reduce waiting times, the sites could not always implement these changes owing to resource constraints.

Decision Support Systems, Management↗

Waiting list statistics as performance indicators: observations on their use in hospital management.

Improvements in data collection and the types of statistics collected have enhanced the usefulness of waiting list statistics as a measure of hospital performance. But these changes are not sufficient for waiting list statistics to be used effectively for management purposes. The statistics need to be viewed alongside activity data if clinicians and managers are to identify specific areas that need improvement. This means that how the data are analysed and presented is also important. During a study into the management of waiting lists, we observed that waiting list data were typically presented in a way that made interpretation difficult. A simple but effective solution was found by using available PC-based software, but obstacles remain. These stem from limitations of current information systems and the awareness among staff of the potential of common software packages.

Australia↗