Lacrimal gland epithelioid haemangioma.
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Aged↗
Biomedical subjects
D W Ellison
Publications and source records attributed to D W Ellison.
A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome.
Subacute necrotizing encephalomyelopathy (Leigh syndrome) is associated with a number of mitochondrial DNA (mtDNA) abnormalities. We studied a family with maternally inherited encephalomyelopathy. Two siblings developed adult-onset Leigh syndrome. Muscle biopsy specimens showed enhanced succinic dehydrogenase activity and cytochrome oxidase-negative fibers. We sequenced the ATPase- and transfer RNA (tRNA)-encoding genes of mtDNA and identified a novel mtDNA valine tRNA mutation at base pair 1644. This transversion was heteroplasmic in blood and muscle in all individuals studied, and the proportion of mutant mtDNA correlated with disease severity. This is the first heteroplasmic transversion within a mtDNA tRNA gene and the second pathogenic mtDNA tRNA(Val) mutation to be associated with human disease.
Adult↗
The diagnosis of diffuse axonal injury: implications for forensic practice.
The diagnosis of diffuse axonal injury (DAI), which may be of considerable importance in forensic medicine, necessitates widespread sampling of the brain for histology. Because a limited sampling method for screening brains for axonal damage would be of value for medico-legal work, the authors have tested the findings of an earlier study which suggested that a standard set of three blocks from above and below the tentorium could reliably be used in routine practice as a basis for the diagnosis of DAI. A series of 22 previously diagnosed cases of DAI, with a range of survival times, was studied using immunohistochemistry with antibodies to beta-amyloid precursor protein (beta APP), the microglial-associated antigen CD68 (PG-M1) and for GFAP. Strict histological criteria were used to assess traumatic damage, and the evolution of the histological changes with increasing survival is described. In four cases, the sampling scheme employed yielded evidence of axonal damage in only one block, and a diagnosis of DAI could have been made in only 13/22 cases. In six of the shortest surviving cases, beta APP positivity in the corpus callosum and brainstem outlined areas of early ischaemia, as well as of traumatic damage, so that interpretation of immunolabelling was not always clearcut The findings suggest that DAI cannot be reliably diagnosed on a restricted number of blocks from vulnerable areas, and that the use of beta APP and PG-M1 immunocytochemistry may bring interpretative problems that can only be resolved by taking a larger series of tissue samples for histology.
Adolescent↗
Prevalence and assessment of qualitative olfactory dysfunction in different age groups.
The prevalence of parosmia and phantosmia among 363 chemosensory and nasal/sinus patients was studied, as was the accuracy with which our clinical questionnaire could assess these dysfunctions. We then investigated whether patients with parosmia or phantosmia, matched for odor intensity, perform poorer on odor identification than do patients with no dysosmia. More than 40% of the study group evidenced either parosmia (18.7%) and/or phantosmia (25.6%), a finding that suggests that more attention should be paid by the medical practitioner in addressing qualitative olfactory dysfunction. Furthermore, it appears that assessment of these dysfunctions may aid in differential diagnosis, and that questionnaires can be used with reasonable validity irrespective of the patient's age. Finally, the results imply that parosmia may be reflected in a discrepancy between odor identification and detection.
Adult↗
Pathology of brain tumors: the current state of diagnostic practice.
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Animals↗
Progressive myoclonic ataxia associated with coeliac disease. The myoclonus is of cortical origin, but the pathology is in the cerebellum.
We report four patients with a progressive myoclonic ataxic syndrome and associated coeliac disease. The onset of the neurological syndrome followed the gastrointestinal and other manifestations of coeliac disease while on a gluten-free diet, in the absence of overt features of malabsorption or nutritional deficiency. The condition progressed despite strict adherence to diet. The neurological syndrome was dominated by action and stimulus sensitive myoclonus of cortical origin with mild ataxia and infrequent seizures. Plasmapharesis and immunosuppressive treatment were tried in two patients but were not beneficial. Post-mortem examination of the brain in one case showed selective symmetrical atrophy of the cerebellar hemispheres with Purkinje cell loss and Bergmann astrocytosis, and with preservation of the cerebral hemispheres and brainstem. Coeliac disease should be considered in the differential diagnosis of all patients presenting with a progressive myoclonic ataxic syndrome.
Adult↗
Characterization of perivascular cells in astrocytic tumours and peritumoral oedematous brain.
Perivascular cells (PVCs) form an immunophenotypically defined population that plays an important scavenging role in the perivascular fluid drainage pathways in the rat brain; such cells may also act as antigen-presenting cells. The present study tests the hypotheses that (a) PVCs in human brain are distinct from microglia and haematogenous macrophages, and (b) PVCs within astrocytic tumours and peritumoral oedematous brain tissue react in a similar way to PVCs in the rat brain. Paraffin sections of formalin-fixed tissue from 10 astrocytomas, 10 anaplastic astrocytomas, 10 glioblastoma multiforme, peritumoral oedematous brain and from normal human brain were examined immunocytochemically using antibodies HLA-DR beta-chain for MHC class II antigen, PGM1 and MAC 387 directed against macrophage components, MT1 for T lymphocytes and GFAP for astrocytes. No PVCs, microglia or macrophages were labelled by these techniques in paraffin sections of normal brain. Microglia, macrophages recently derived from haematogenous monocytes and PVCs were labelled by immunocytochemistry in all tumours but were more numerous in glioblastomas than in astrocytomas or anaplastic astrocytomas. Perivascular cells were distinguished by their perivascular position, their expression of MHC class II antigen and were labelled by PGM1 antibody but not by MAC 387 antibody. Microglia and monocyte/macrophages, remote from blood vessels, on the other hand, were strongly labelled by MAC 387, moderately by PGM1 and showed weak expression of MHC class II antigen. A similar pattern of staining was seen in peritumoral oedematous tissue. These findings suggest that PVCs form a defined population of resident cells in the human brain and that they are distinct from microglia, monocytes and macrophages.(ABSTRACT TRUNCATED AT 250 WORDS)
Adult↗
Accumulation of wild-type p53 in meningiomas.
The p53 tumour suppressor gene contributes to the regulation of DNA repair and the initiation of apoptosis. Mutations of this gene and nuclear accumulation of its protein product are features of a large variety of tumours. A histological spectrum of meningiomas, including anaplastic examples and a meningosarcoma, was analysed for accumulation of the p53 protein and mutations in exons 4-9 of the p53 gene. No mutations were found, but 9/34 (26%) tumours showed accumulation of the p53 protein. The p53-positive meningiomas came from across the histological spectrum and were not restricted to the anaplastic group. The accumulation of wild-type p53 in a proportion of meningiomas may reflect this gene's role in DNA repair, or its enhanced stability when bound to cellular proteins such as the mdm-2 gene product.
Antibodies, Monoclonal↗
Apoptosis in cerebral astrocytic tumours and its relationship to expression of the bcl-2 and p53 proteins.
Apoptosis is an important determinant of tumour growth which can be regulated by the bcl-2 and p53 genes. This study examines the relationship between apoptosis, growth fraction (Ki-67 immunolabelling index), and accumulation of the bcl-2 and p53 proteins in a spectrum of cerebral astrocytic tumours (n = 81), including fibrillary astrocytomas (n = 16), anaplastic astrocytomas (n = 19), and glioblastomas (n = 46). Median apoptosis indices (AIs) increased across this spectrum of tumours, and a significant (P < 0.0001) correlation was demonstrated between AI and Ki-67 labelling index (LI). Immunolabelling with the bcl-2 antibody was found in 44% of fibrillary astrocytomas, 42% of anaplastic astrocytomas, and 28% of glioblastomas. It was also found in the vascular endothelial proliferation typically seen in glioblastomas, and in the giant, multinucleated cells of some glioblastomas. No clear relationship between AI and bcl-2 accumulation was evident. Immunolabelling with the p53 antibody was found in 56% of fibrillary astrocytomas, 79% of anaplastic astrocytomas, and 50% of glioblastomas. No clear relationship between AI and patterns of p53 immunolabelling was evident. Equal proportions of p53-positive tumours were bcl-2 positive and bcl-2 negative, but a small proportion of p53-negative tumours was bcl-2 positive. The correlation between AI and Ki-67 LI is in line with findings in other malignant tumours. We suggest that the regulation of apoptosis in astrocytic tumours is too complex for a clear association between AI and bcl-2 and p53 protein expression to be demonstrated.
Antibodies, Monoclonal↗
Prognostic indicators in a range of astrocytic tumours: an immunohistochemical study with Ki-67 and p53 antibodies.
The treatment and prognosis of patients with cerebral astrocytic tumours are currently guided by histopathological classification. This study evaluates immunohistochemistry using Ki-67, an antibody to a nuclear protein expressed in proliferating cells, and DO-7, an antibody to the product of the tumour suppressor gene p53, as prognostic indicators for these tumours. Immunohistochemistry with Ki-67 has been correlated with the behaviour of many different tumours, but its value as a prognostic indicator in astrocytic tumours is diminished by the conflicting results of previous studies. Immunohistochemistry with antibodies to the p53 protein has been used as a prognostic indicator in melanomas and some carcinomas, but the relation between prognosis and accumulation of this protein in astrocytic tumours has not been clarified. We have tested the hypothesis that survival is correlated with Ki-67 immunolabelling indices (LIs) and patterns of p53 immunolabelling in the cerebral astrocytic tumours of a large cohort of patients (n = 123) for whom clinical indices were well documented. Astrocytic tumours were divided into three histological types: fibrillary astrocytoma (n = 24), anaplastic astrocytoma (n = 31), and glioblastoma (n = 68). Histological type and patient age were independent predictors of survival. Median Ki-67 LIs differed significantly (P < 0.0001) between the types of astrocytic tumour, and tumours with a Ki-67 LI < 2% had a significantly (P < 0.0001) better prognosis. Ki-67 LI as a continuous variable carried a significant (P = 0.0043) unadjusted hazard to survival which was lost when adjusted for other variables, notably histological type. By contrast, no relation was found between survival and three categories of p53 labeling (p53-negative, p53 LI < 40%, and p53 LI > 60%). The results indicate that, whereas Ki-67 immunohistochemistry predicts survival in patients with astrocytic tumours, conventional histological appraisal remains the best guide to prognosis, and immunohistochemistry for p53 has no value in the assessment of these tumours.
Adult↗
Histological findings in giant aneurysms treated with Guglielmi detachable coils. Report of two cases with autopsy correlation.
The authors report the pathological and histological findings in two patients with giant partially thrombosed aneurysms who were treated by means of Guglielmi detachable coils with subtotal occlusion of the aneurysms. Autopsies of these patients were performed 2 and 6 months after endovascular treatment. The histological findings revealed coils embedded in largely unorganized thrombus in the aneurysms; there was no clear reduction in size of the aneurysms over the period. There was no evidence of endothelialization of the aneurysm neck demonstrated in either case. The significance of these findings is discussed.
Adult↗
Perivascular edema fluid pathway in astrocytic tumors.
Perivascular spaces are anatomical routes for the bulk flow drainage of fluid from the gray matter to the subarachnoid space in normal rat brain. Perivascular cells are the resident scavengers in perivascular spaces. Following focal brain damage, perivascular cells upregulate MHC Class II antigens associated with uptake of edema fluid. Similar cells can be defined in damaged human brain. In the present investigation, the distribution of MHC Class II upregulated perivascular cells was measured in 30 astrocytic tumors and adjacent edematous tissues by immunocytochemistry using the following antibodies: HLA-DR (MHC Class II), PGM1 and MAC387 (macrophages). Perivascular cells were PGM1+/MAC387- and were located in perivascular spaces along blood vessels of all sizes. MHC Class II+ perivascular cells were distributed mainly in the tumors but in some cases (4 of 10 in astrocytomas, 4 of 10 in anaplastic astrocytomas, and 7 of 10 in glioblastomas) they were also found in adjacent edematous brain. The extensive MHC Class II expression on perivascular cells suggests that perivascular cells play a scavenging role in the perivascular spaces in human brain. The results of the present study indicate the similarity between perivascular spaces in human and rat brains and emphasize the significance of perivascular spaces as anatomical routes for edema fluid drainage from human brain tissue.
Animals↗
Results of upper plexus thoracic outlet syndrome operation.
A review of 181 patients with thoracic outlet syndrome treated in our clinic revealed that 22 (12%) showed symptoms of compression of the distal median nerve only. Although there are several distinct anatomic abnormalities involving the upper brachial plexus, a first rib resection using the transaxillary approach was found to relieve these patients' symptoms as well as it did in those who exhibited the classic findings of ulnar nerve paresthesias. A comparison of the patients' outcomes showed no appreciable differences in the results obtained in those with distal median nerve compression symptoms only, lower plexus involvement, or combined upper and lower plexus symptoms.
Brachial Plexus↗
Trauma-related thoracic outlet syndrome.
181 patients treated for thoracic outlet syndrome by first rib resection were reviewed. 88 (49%) indicated a single traumatic event which precipitated the thoracic outlet syndrome. 79% of patients with a history of a single traumatic episode had good to excellent results after first rib resection. A separate group of 18 patients developed work-related thoracic outlet syndrome due to repetitive activities. Ratings of good to excellent results were lower (66%) among workmen's compensation cases.
Adult↗
Carcinoma of the pituitary in association with pulmonary stenosis and microcephaly.
We report a 31-year-old female with microcephaly and pulmonary stenosis who developed a pituitary carcinoma: this combination of anomalies has not been described previously.
Adult↗
Cerebellum and brainstem vasculopathy in systemic lupus erythematosus: two clinico-pathological cases.
The case histories are reported of two patients with systemic lupus erythematosus (SLE) who developed fatal neurological involvement, each presenting with cerebellar and brainstem signs. Neuro-pathological changes were confined to the cerebellum and brainstem, with clear evidence of a small vessel vasculopathy. The predominant histological abnormalities were multiple perivascular haemorrhages in one case and classical vasculitic changes in the other.
Adult↗
AIDS presenting as focal segmental membranous glomerulopathy.
The case of a young, heterosexual man who was investigated for proteinuria is reported. A renal biopsy specimen showed a focal and segmental membranous glomerulopathy. He was later found to be HIV positive and died from cerebral infarction associated with HIV vasculitis 16 months after his initial presentation. Unusual forms of immune complex mediated glomerulopathies should alert the pathologist to the possibility of HIV associated disease.
Acquired Immunodeficiency Syndrome↗
Extracranial osseous metastases from intracranial meningioma.
A biopsy of a fifth lumbar vertebral lesion confirmed that an intracranial meningioma had metastasized 12 years after the diagnosis of the primary tumour. A literature review reports 25 cases of extracranial osseous metastases from meningioma. The mechanisms of spread are discussed as is the role of surgery in the seeding of such tumours.
Craniotomy↗