Biomedical subjects

Elizabeth Rose

Publications and source records attributed to Elizabeth Rose.

4 recordsLinked to original sources

PubMed2006

Polyflex stenting of tracheomalacia after surgery for congenital tracheal stenosis.

Polyflex self-expanding stents (Rüsch, Germany) were used in three young children who had presented with life-threatening long-segment tracheal stenosis with bronchial stenosis in two cases. Two children had slide tracheoplasties and subsequently aortic homografts and another tracheal resection and autotracheoplasty. However, in all cases persistent lower tracheal malacia necessitated stenting. Complications of granuloma, stent migration or dislodgement occurred in all cases. A fatal tracheo-aortic fistula occurred in one child. Granuloma in one was treated successfully with steroids. One child survives.

Aorta, Thoracic↗

PubMed2006

Cochlear implants for DFNA17 deafness.

BACKGROUND: Nonsyndromic autosomal-dominant, adult-onset sensorineural hearing loss resulting from DFNA17 was described in a single American kindred in 1997, and the causative gene was subsequently identified as MYH9. OBJECTIVE: The objective of this study was to report clinical and genetic analyses of an Australian family with nonsyndromic adult-onset sensorineural hearing loss. METHODS: The clinical presentation of the family was detailed and identification of the causative gene was conducted by SNP genotyping and direct sequencing. RESULTS: Sequence analysis of the MYH9 gene revealed the same missense mutation as in the original DFNA17 family. We are not aware of a link between the two kindreds, making the present one only the second DFNA17 family to be reported. CONCLUSIONS: One important point of clinical relevance is the excellent outcome with cochlear implants in the Australian family compared with a "poor" response in the American family. Thus, cochlear implants should be strongly considered for clinical management of patients with DFNA17 deafness.

Adolescent↗

PubMed2004

Characterisation of DRASIC in the mouse inner ear.

Within the cochlea, the hair cells detect sound waves and transduce them into receptor potential. The molecular architecture of the highly specialised cochlea is complex and until recently little was known about the molecular interactions which underlie its function. It is now clear that the coordinated expression and interplay of hundreds of genes and the integrity of cochlear cells regulate this function. It was hypothesised that transcripts expressed highly or specifically in the cochlea are likely to have important roles in normal hearing. Microarray analyses of the Soares NMIE library, consisting of 1536 cDNA clones isolated from the mouse inner ear, suggested that the expression of the mechanoreceptor DRASIC was enriched in the cochlea compared to other tissues. This amiloride-sensitive ion channel is a member of the DEG/ENaC superfamily and a potential candidate for the unidentified mechanoelectrical transduction channel of the sensory hair cells of the cochlea. The cochlear-enriched expression of amiloride-sensitive cation channel 3 (ACCN3) was confirmed by quantitative real-time polymerase chain reaction. Using in situ hybridisation and immunofluorescence, DRASIC expression was localised to the cells and neural fibre region of the spiral ganglion. DRASIC protein was also detected in cells of the organ of Corti. DRASIC may be present in cochlear hair cells as the ACCN3 transcript was shown to be expressed in immortalised cell lines that exhibit characteristics of hair cells. The normal mouse ACCN3 cDNA and an alternatively spliced transcript were elucidated by reverse transcription polymerase chain reaction from mouse inner ear RNA. This transcript may represent a new protein isoform with an as yet unknown function. A DRASIC knockout mouse model was tested for a hearing loss phenotype and was found to have normal hearing at 2 months of age but appeared to develop hearing loss early in life. The human homologue of ACCN3, acid-sensing ion channel 3, maps to the same chromosomal region as the autosomal recessive hearing loss locus DFNB13. However, we did not detect mutations in this gene in a family with DFNB13 hearing loss.

Acid Sensing Ion Channels↗

PubMed2004

Changing professional practice in tuberculosis care: an educational intervention.

AIM: This paper describes the development and implementation of an experiential, participatory in-service education programme focusing on patient-centeredness, problem-solving and critical reflection for primary providers delivering care to tuberculosis patients in South Africa. BACKGROUND: Tuberculosis is a major contributor to the disease burden in developing countries. In South Africa, approximately 90% of tuberculosis patients are managed by nurses at the primary level. Despite efforts to improve quality of care for these patients, many fail to complete their treatment as prescribed. Poor rapport between health care providers and patients with tuberculosis is a major reason for non-adherence to treatment. Methods of improving the quality of care delivery and communication between health care providers and patients with tuberculosis is therefore a priority. DISCUSSION: The paper outlines the stages of developing and implementing the education programme and reflects on this process. Data is drawn from an in-depth qualitative evaluation of the delivery and impacts of the intervention. The approach was acceptable to health care providers and adaptable to the needs of specific clinics. Participants evaluated the educational intervention positively, noting that it facilitated critical reflection on their work; encouraged problem-solving; and heightened their awareness of communication with patients and with colleagues. However, important structural barriers to practice change were identified, including conditions of service, relations with colleagues and support from management. CONCLUSIONS: Experiential, participatory in-service education can be implemented on a large scale in primary care settings. However, the process is resource intensive and the impacts of such education may be limited by barriers at other levels of the health system.

Adolescent↗