Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
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Case Reports
Analysis of the treatment of 576 patients with congenital craniovertebral junction malformations.
We aim to report our experience treating craniovertebral junction malformations (CVJM) and to investigate the management of this uncommon condition. Between 2000 and 2009, 629 patients with CVJM underwent surgery in our department. ⋯ Different microsurgical treatments were carried out in these patients according to disease type, and the effectiveness of individualised treatments was analysed. Categorizing patients with CVJM into these four types to simplify this somewhat unclear area could provide insight into the pathogenesis of the anomaly and a basis for rational surgical treatment.
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Congenital myopathies are early onset hereditary muscle disorders. A sub-group of these is associated with malignant hyperthermia susceptibility. Mutations in the skeletal muscle ryanodine receptor (RYR1) gene have been associated with various congenital myopathy phenotypes and may also cause malignant hyperthermia susceptibility. ⋯ Three affected members underwent extensive genetic testing and have a RYR1 exon 46 c.7354C>T gene mutation; two of whom had muscle biopsies--both demonstrated central core myopathy. The only affected family member who underwent testing for malignant hyperthermia susceptibility was shown to be positive. The clinical phenotypes seen among affected family members varies widely in severity, and have features in common with those congenital myopathies associated with malignant hyperthermia susceptibility, raising the possibility that these conditions represent a spectrum of disease.
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Brain tumor stem cells (BTSC) are predicted to be critical drivers of tumor progression due to their self-renewal capacity and limitless proliferative potential. Recent studies suggest that stem cells are controlled by a particular microenvironment known as a "niche". We therefore analysed human glioma tissues and found that the CD133(+) and nestin(+) niches are perivascularly localized in all glioma tissues. ⋯ We demonstrate that both CD133(+) blood vessels and nestin(+) blood vessels have an important role in maintaining the structure of the glioma stem cell niche. Moreover, the abundance of CD133(+) niches and nestin(+) niches increases significantly as tumor grade increases. These findings provide a new insight into the biology of BTSC and open a new perspective for targeted therapy against the brain tumors.
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Review Case Reports
Malignant potential of pleomorphic xanthoastrocytoma.
Pleomorphic xanthoastrocytoma (PXA) is a low-grade astrocytic tumour that occasionally progresses to a higher grade. We have extensively reviewed the literature on the potential for malignant transformation of PXA. An illustrative case of a PXA transforming to glioblastoma multiforme is presented.
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Concussion is a sudden-onset, transient alteration of consciousness due to a combination of functional and structural brain disturbances following a physical impact transmitted to the brain. It is a common, although likely underreported, condition encountered in a wide range of sports. In the Australian Football League, concussion is estimated to occur at a rate of approximately seven injuries per team per season. ⋯ The current paper reviews the sports concussion literature. The definition, epidemiology, aetiology, pathophysiology, structural pathology, clinical features, assessment and investigation, treatment principles, and short-term and potential long-term complications of concussion are discussed. Special considerations in paediatric sports concussion, and the return-to-play implications of immediate, evolving and repetitive brain injury are also considered, as are the emerging concept and possible implications of subconcussive injury.