Search PubMed⌕ Search

Biomedical subjects

J M Brucher

Publications and source records attributed to J M Brucher.

At least 37 records · Page 2Linked to original sources
PubMed1995

Neuropathological diagnostic criteria for Creutzfeldt-Jakob disease (CJD) and other human spongiform encephalopathies (prion diseases).

Neuropathological diagnostic criteria for Creutzfeldt-Jakob disease (CJD) and other human transmissible spongiform encephalopathies (prion diseases) are proposed for the following disease entities: CJD--sporadic, iatrogenic (recognised risk) or familial (same disease in 1st degree relative): spongiform encephalopathy in cerebral and/or cerebellar cortex and/or subcortical grey matter; or encephalopathy with prion protein (PrP) immunoreactivity (plaque and/or diffuse synaptic and/or patchy/perivacuolar types). Gerstmann-Sträussler-Scheinker disease (GSS) (in family with dominantly inherited progressive ataxia and/or dementia): encephalo(myelo)pathy with multicentric PrP plaques. Familial fatal insomnia (FFI) (in member of a family with PRNP178 mutation): thalamic degeneration, variable spongiform change in cerebrum. Kuru (in the Fore population). Without PrP data, the crucial feature is the spongiform change accompanied by neuronal loss and gliosis. This spongiform change is characterised by diffuse or focally clustered small round or oval vacuoles in the neuropil of the deep cortical layers, cerebellar cortex or subcortical grey matter, which might become confluent. Spongiform change should not be confused with non-specific spongiosis. This includes status spongiosus ("spongiform state"), comprising irregular cavities in gliotic neuropil following extensive neuronal loss (including also lesions of "burnt-out" CJD), "spongy" changes in brain oedema and metabolic encephalopathies, and artefacts such as superficial cortical, perineuronal, or perivascular vacuolation; focal changes indistinguishable from spongiform change may occur in some cases of Alzheimer's and diffuse Lewy body diseases. Very rare cases might not be diagnosed by these criteria. Then confirmation must be sought by additional techniques such as PrP immunoblotting, preparations for electron microscopic examination of scrapie associated fibrils (SAF), molecular biologic studies, or experimental transmission.

Creutzfeldt-Jakob Syndrome↗
PubMed1995

Diagnostic yield of stereotactic brain biopsy guided by positron emission tomography with [18F]fluorodeoxyglucose.

The aim of the present study was to determine whether routine integration of positron emission tomography (PET) with 18F-labeled fluorodeoxyglucose (FDG) in the planning of stereotactic brain biopsy increases the technique's diagnostic yield. Forty-three patients underwent combined FDG-PET- and computerized tomography (CT)-guided stereotactic biopsy of intracranial lesions according to a previously described technique. In 36 patients, an area of abnormal FDG uptake was used to guide at least one stereotactic biopsy trajectory. A total of 90 stereotactic trajectories were performed; among them, 55 were based on FDG-PET-defined targets and 35 were based on CT-defined targets. Histological diagnosis was obtained in all patients, but six of the 90 trajectories were nondiagnostic; all six were based on targets defined by CT only. Differences between the diagnostic yield of trajectories based on FDG-PET-defined targets and those based on CT-defined targets were statistically significant in patients with contrast-enhanced lesions, but not in patients with nonenhancing lesions. These results support the view the FDG-PET may contribute to the successful management of brain tumor patients requiring stereotactic biopsy. Because no significant increase in discomfort or morbidity related to the technique was found, it is suggested that the development of similar techniques integrating PET data in the planning of stereotactic biopsy should be considered by centers performing stereotactic surgery and having access to PET technology.

Adolescent↗
PubMed1995

Intracranial facial nerve rhabdomyoma. Case report.

Nerve rhabdomyomas are exceedingly rare benign tumors of the peripheral nerves consisting of well-differentiated striated muscle fibers admixed with parental nerve fibers. Only one case of intracranial nerve rhabdomyoma has been described, which affected the trigeminal nerve. This report presents the detailed neuropathological description of a nerve rhabdomyoma arising in the schwannian portion of the facial nerve root in a 41-year-old Caucasian man. The nerve fibers were arranged chaotically as in a traumatic neuroma. Because of the intimate intermingling of this slow-growing tumor with the parental nerve fibers, complete excision should be avoided.

Adult↗
PubMed1994

On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family.

We describe a family with an autosomal dominant form of retinal-cerebellar atrophy. There is an extreme variability in age of onset and severity of the clinical symptoms: some patients remain nearly asymptomatic throughout their entire life; others develop severe retinal and cerebellar symptoms after the age of 35 years; others suffer from a severe disorder with onset in adolescence and death during the third decade of life; in others the onset is in early childhood with prevalence of cerebellar symptoms. There is neither dementia nor epilepsy in any of the patients. Four out of five autopsies showed a severe retinal atrophy, and all five autopsies were also characterized by (1) a cerebellar atrophy affecting the spinocerebellar and olivocerebellar tracts, the cerebellar cortex and the efferent cerebellar pathways, (2) an involvement of the pyramidal pathways and of the motor neurons of brain stem and spinal cord, and (3) an atrophy of the subthalamic nucleus and to a much lesser extent of the pallidum, with also some damage to the substantia nigra. The posterior columns are much less affected except in one patient. In this family, we have excluded linkage with the two loci for spinocerebellar ataxia, i.e., SCA1 on chromosome 6p and SCA2 on chromosome 12q as well as with the locus for Machado-Joseph disease (MJD) on chromosome 14q. A genome-wide search is currently being performed to detect the disease locus responsible.

Adolescent↗
PubMed1994

PET in stereotactic conditions increases the diagnostic yield of brain biopsy.

We have recently described a technique allowing routine integration of PET scan data in the planning of stereotactic brain biopsy [Levivier et al:, Neurosurgery, 1992; 31:792-797]. We now report our results in a consecutive series of 38 patients that underwent combined FDG-PET and CT-guided stereotactic biopsy between June 1991 and January 1993. Stereotactic procedures were performed according to a standard protocol in which two biopsy trajectories were used whenever possible. This yielded to a total of 78 trajectories. In 31 patients, at least 1 trajectory was defined using an abnormality visualized on PET. The histological diagnosis was obtained in all cases. The diagnostic yield of each trajectory according to the FDG uptake of PET and contrast enhancement on CT showed that most low-grade tumors were found in hypometabolic/hypodense areas, glioblastomas were all diagnosed in areas with increased FDG uptake and contrast enhancement on CT while data for anaplastic astrocytomas were heterogeneously distributed. In the present series, 6 targets defined on CT were nondiagnostic; this never occurred when targets were defined on FDG-PET. In one case of anaplastic astrocytoma, the diagnosis was only made using a target defined on PET in a normal CT area; the second trajectory was made in a contrast-enhanced area on CT and was nondiagnostic. Because only structural images such as CT or MRI are available preoperatively, we analyzed separately the benefit of FDG-PET-guided biopsy in patients who have either an enhanced- or a nonenhanced lesion on CT. CT-enhanced lesions were found in 27 patients.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1994

Adjuvant therapy with dibromodulcitol and BCNU increases survival of adults with malignant gliomas. EORTC Brain Tumor Group.

OBJECTIVE: We tested adjuvant chemotherapy combining dibromodulcitol (DBD) and bischloroethylnitrosourea (BCNU) given postoperatively to adults with newly diagnosed supratentorial malignant gliomas. METHODS: We enrolled 269 patients, 255 of whom were eligible. After surgery, we treated all patients with radiation therapy, using a median dose of 60 Gy given in 30 fractions. After randomization, patients in the chemotherapy group also received (1) six weekly courses, administered during irradiation, of DBD 700 mg/m2 and (2) one to nine (median, four) courses, administered during the first year following radiation therapy, of DBD 1,000 mg/m2 on day 1 and BCNU 150 mg/m2 on day 2, with the course being repeated every 6 weeks. RESULTS: Patients treated with radiation therapy along with DBD plus BCNU (group 2) had significantly longer survival time (p = 0.044) and time to progression (p = 0.003) than did those treated with radiation therapy alone (group 1). The median survival time was 13.0 months for group 2 and 10.4 months for group 1; the median time to progression was 8.1 months for group 2 and 6.7 months for group 1. The percentage of patients alive at 18 and 24 months was 34% and 21% in group 2 compared with 21% and 12% in group 1. CONCLUSION: DBD plus BCNU is an effective adjuvant therapy for malignant glioma.

Adult↗
PubMed1993

Neuropathological findings of a patient with pyruvate dehydrogenase E1 alpha deficiency presenting as a cerebral lactic acidosis.

Neuropathological findings are reported of a 6-month-old female child with a "cerebral" lactic acidosis. A mutation in the pyruvate dehydrogenase (PDH) E1 alpha gene was found. Gross examination of the brain revealed a severe thinning of the cerebral parenchym, a marked hydrocephalus sparing the aqueduct and fourth ventricle, agenesis of the corpus callosum and heterotopic noduli of gray matter in subependymal regions. Microscopical examination showed heterotopic inferior olives, absent pyramids and focal neuroglial overgrowth into meninges. In addition some heterotopia of Purkinje cells and dysplasia of the dentate nuclei were observed. There was a marked vascular proliferation with many thin-walled, congestive vessels in the cerebral and cerebellar white matter, and to a lesser extent in the striatum. To our knowledge these cerebellar and vascular abnormalities have not been reported before in patients with "cerebral" lactic acidosis. The combination of these neuropathological findings might be characteristic for PDH deficiency and more specifically for its E1 alpha subtype. Neuropathological examination could lead to the retrospective diagnosis of PDH E1 alpha deficiency in those cases where biochemical investigations were not or incompletely performed. This may have potential implications for genetic counseling.

Acidosis, Lactic↗
PubMed1993

Neuropathological diagnosis with stereotactic biopsies. Possibilities, difficulties and requirements.

The present paper is based on stereotactic biopsies (SB) of 870 patients during the last 20 years. Approximately 700 patients suffered with brain tumour. Dementias and various diseases such as vasculopathies, leucoencephalopathies and inflammatory lesions were diagnosed in the other cases. Three groups of problems can be diagnosed with SB: 1) deeply located brain lesions; 2) early stages of lesions and diffuse or multiple lesions detected with imaging techniques; 3) some progressive dementing or degenerative diseases. Multiple (generally 4 to 6) SB should be taken in the vicinity and various parts of the lesion; they should be numbered, described separately and located exactly on an image of the brain. Handling the SB with care and the quality of the processing are important. Previous contact between neurosurgeon and neuropathologist can improve the accuracy of the diagnosis, which is reliable in the majority of cases, without producing undesirable brain damage.

Adult↗
PubMed1993

Rabies encephalitis mimicking the electrophysiological pattern of brain death. A case report.

A 48-year-old woman was referred from Zaire with suspected rabies encephalitis. Survival was 34 days after the onset of symptoms and the diagnosis of rabies was ultimately proven after brain autopsy. Serial neurophysiological investigations, including EEG and multimodality evoked potentials and radiological examinations (cerebral magnetic resonance imaging and computed tomodensitometry) were performed. Whereas the clinical findings and EEG were compatible with brain death at the end of the course, this diagnosis could be definitely ruled out by multimodality evoked potentials, magnetic resonance imaging and autopsy. The validity of multimodality evoked potentials is discussed in this particular setting.

Brain↗
PubMed1993

Anti-Purkinje cells antibodies in two cases of paraneoplastic cerebellar degeneration.

The serum and CSF of two women with a severe subacute pancerebellar syndrome contained high titers of antibodies directed against antigens present in the perikaryon of Purkinje cells. In Western blots performed on human Purkinje cells extracts these antibodies reacted with two groups of proteins the molecular weights of which were estimated to 34-38 and 62 kilodaltons (anti-Yo antibodies). Complementary investigations revealed a tubar adenocarcinoma in the first case, an ovarian carcinoma in the second. The tubar tumoral cells also contained the protein of the highest molecular weight. Compared to the serum, the CSF contained a higher proportion of anti-Yo antibodies per mg IgG, and a fraction of the latter was likely synthesized intrathecally. These antibodies may be involved in the almost total disappearance of the Purkinje cells, as observed at autopsy of both cases.

Adenocarcinoma, Papillary↗
PubMed1992

[Sturge-Weber syndrome: apropos of an anatomo-clinical case report with prepapillary glial proliferation].

The authors report the case of a woman with Sturge-Weber syndrome (oculotrigeminate form) presenting with neovascular glaucoma of abrupt onset during pregnancy. Since medical treatment failed, she underwent a retrobulbar alcoholisation. Three months after delivery, enucleation was performed for esthetic reasons. The enucleated eye showed diffuse choroidal angioma, total retinal detachment and a prepapillary glial proliferation. We discuss this uncommon association.

Adult↗