Mazira Mohamad Ghazali

Molecular genetic analysis of BAX and cyclin D1 genes in patients with malignant glioma

Abstract Introduction and objectives: Brain tumorigenesis is a complex process involving multiple genetic alterations. Cyclin D1 and BAX genes are two of the most important regulators in controlling the normal proliferation and apoptosis of cells, respectively. In this study, we analysed the possibilities of involvement of cyclin D1 and BAX genes in the gliomagenesis. Methods and results: In determining gene alterations of exon 4 of cyclin D1 gene and exon 6 of BAX gene, all samples were amplified by polymerase chain reaction (PCR) and subsequently by direct sequencing. Our results showed a frameshift mutation (G base deletion) at nucleotide 82 of codon 28 in exon 4 of the cyclin D1 gene and another frameshift mutation with a deletion of C base at nucleotide 153 of exon 6 of the BAX gene in two separate cases of a glioblastoma multiform (WHO Grade IV) sample. Conclusion: These findings suggest that both cyclin D1 and BAX genes alteration are rarely found in brain tumors. However, the alteration might cause a significant effect of the normal protein production and this might contribute to the development of brain tumorigenesis in Malaysian patients.

Giant nerve sheath tumour: report of six cases

Giant nerve sheath tumour is a rare tumour originating from the nerve sheath. It differs from the conventional nerve sheath tumour only by the size these tumours can reach. There are two main type of tumours that occur in the nerve sheath which include neurofibroma and schwannoma. The current views are that schwannomas arise from the progenitor of the schwann cell. Whereas the neurofibroma series probably arise from a mesenchymal origin closer to a fibroblast. We report on six cases of nerve sheath tumour that occur in the spinal and paraspinal region that presented to us over a 5 year period.

Molecular Genetic Analysis of Anaplastic Pleomorphic Xanthoastrocytoma

A case of pleomorphic xanthoastrocytoma in a 10-year-old Malay boy is reported. The patient presented with headache and epilepsy. On computed tomography, a ring-enhancing low-density lesion was observed in the left fronto-temporal area. During surgery, a cystic tumour containing serous fluid was found and almost totally removed. Histologically, the tumour exhibited marked pleomorphism of oval and spindle-shaped cells intermixed with uni- and multinucleated giant cells, and xanthomatous cells with foamy cytoplasm. The tumour displayed pericellular reticulin and periodic acid-Schiff positive granules. Focally, six mitotic characters per 10 high-power fields were seen, and necrosis was confined only to the inner lining of the cyst. Mutational analysis showed that a frameshift mutation (a 4-bp deletion) in the p53 gene had occurred in codons 273 and 274 of exon 8. No mutation was detected in the p16 gene. No allelic loss and/or loss of heterozygosity were observed on chromosome 10 using microsatellite marker D105532. The patient was treated with postoperative radiotherapy because of histological anaplasia and the presence of residual tumour. The patient showed marked neurological recovery after a follow-up period of 2 years.

Persistence of Cognitive Deficits Following Paediatric Head Injury Without Professional Rehabilitation in Rural East Coast Malaysia

OBJECTIVE To use data from a prospective, longitudinal study to determine whether psychomotor functions improve spontaneously during the first year following paediatric traumatic brain injury without modern rehabilitation facilities in a rural area of Malaysia. METHODS Thirty-six paediatric patients who were referred for neurosurgical management for mild to severe head injuries were studied over a period of 2 years. No patients had orthopaedic or surgical trauma. Assessment of patients occurred at 3, 6 and 12 months, and patients were subjected to the Bender Gestalt Test, Weschler Intelligence Scale for Children--Revised and subtests from the Weschler Preschool and Primary Scale of Intelligence. None of the patients received professional rehabilitation due to a lack of facilities; only traditional treatment was given during this period. RESULTS There were no significant changes in any of the parameters, except for integration error, after a period of 1 year. Cognitive function improved in 30% of patients after 1 year of follow-up. Despite an increased relationship of the caregiver to the patient in the first year of trauma, there was no general improvement when compared to the Western literature. CONCLUSION A lack of modern resources in the community, a low general practitioner to patient ratio, and no inpatient or outpatient rehabilitation services do not lead to spontaneous improvement in the psychomotor condition of our patients despite good interfamily support. These are important findings for the future restructuring of the psychological service in Malaysia.