Biomedical subjects

James E Gillespie

Publications and source records attributed to James E Gillespie.

3 recordsLinked to original sources

PubMed2006

Second primary tumors in neurofibromatosis 1 patients treated for optic glioma: substantial risks after radiotherapy.

PURPOSE: Optic pathway gliomas (OPGs) are the most common CNS tumor in neurofibromatosis 1 (NF1) patients. We evaluated the long-term risk of second tumors in NF1-related OPGs after radiotherapy. PATIENTS AND METHODS: We reviewed 80 NF1 OPG patients from two NF1 clinics to evaluate the long-term risk of developing subsequent nervous system tumors, with or without radiotherapy. RESULTS: Fifty-eight patients were assessable for second tumors. Nine (50%) of 18 patients who received radiotherapy after their OPGs developed 12 second tumors in 308 person-years of follow-up after radiotherapy. Eight (20%) of 40 patients who were not treated with radiotherapy developed nine tumors in 721 person-years of follow-up after diagnosis of their OPGs. The relative risk of second nervous system tumor after radiotherapy was 3.04 (95% CI, 1.29 to 7.15). CONCLUSION: There is a significantly increased risk of second nervous system tumors in those NF1 patients who received radiotherapy for their OPGs, especially when treated in childhood. Thus radiotherapy should only be used if absolutely essential in children with NF1.

Adolescent↗

PubMed2004

Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study.

Neurofibromatosis 2 (NF2) is an autosomal dominant disease that is characterized by tumors on the vestibular branch of the VIII cranial nerve, but other types of nervous system tumors usually occur as well. Genotype-phenotype correlations are well documented for overall NF2 disease severity but have not been definitively evaluated for specific types of non-VIII nerve tumors. We evaluated genotype-phenotype correlations for various types of non-VIII nerve tumors in 406 patients from the population-based United Kingdom NF2 registry, using regression models with the additional covariates of current age and type of treatment center (specialty or nonspecialty). The models also permitted consideration of intrafamilial correlation. We found statistically significant genotype-phenotype correlations for intracranial meningiomas, spinal tumors, and peripheral nerve tumors. People with constitutional NF2 missense mutations, splice-site mutations, large deletions, or somatic mosaicism had significantly fewer tumors than did people with constitutional nonsense or frameshift NF2 mutations. In addition, there were significant intrafamilial correlations for intracranial meningiomas and spinal tumors, after adjustment for the type of constitutional NF2 mutation. The type of constitutional NF2 mutation is an important determinant of the number of NF2-associated intracranial meningiomas, spinal tumors, and peripheral nerve tumors.

Age of Onset↗

PubMed2003

Virtual reality modelling language: freely available cross-platform visualization technique for 3-D visualization of the inner ear.

This was a study of the use of virtual reality modelling language (VRML) for cross-platform interactive three-dimensional (3-D) visualization of high-resolution magnetic resonance (MR) images of the inner ear in the assessment of cochlear implant candidates. A retrospective case review was made of cochlear implant candidates undergoing pre-operative high-resolution MR studies to determine their suitability for implantation. 3-D visualizations of MR scans of the inner ear structures were created using surface rendering and exported as portable VRML files. Case studies are presented to illustrate different points of interest. VRML reconstructions aided the interpretation of two-dimensional (2-D) source images in a variety of inner ear abnormalities. VRML is an internationally recognized standard for cross-platform 3-D visualization that creates a means of providing the implanting surgeon with a portable 3-D representation of the inner ear, aiding interpretation of the complex cross-sectional anatomy of these structures, and guiding selection of patients for implantation as well as implantation technique. The elucidation of the mechanisms behind inner ear malformations can also be aided by detailed imaging studies of the temporal bone, with VRML reconstructions providing an easily interpreted representation of deformities.

Adolescent↗