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Foetal blood sampling was performed at 35 weeks of gestation due to abnormal foetal ultrasound findings. There was apparent monosomy 21 (45,XX,-21) in all mitoses analyzed. The infant died at 37 weeks during delivery. Examination disclosed facial anomalies, clubfeet, hypoplasia of the left urogenital tract, agenesis of corpus callosum, ventricular dilatation, and heterotopias. Reevaluation of the karyotype showed an unbalanced translocation t(1;21) (q44;q22.11) which resulted from a maternal balanced translocation. These findings were confirmed by fluorescence in situ hybridization and molecular studies with chromosome 21 specific markers. The latter showed a proximal deletion of the maternally derived chromosome 21 including all loci from centromere down to the D21S210 locus. This case illustrates the need for complementary cytogenetic and molecular investigations in cases of apparent monosomy 21., Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review, info:eu-repo/semantics/published

SCOPUS: ar.j, info:eu-repo/semantics/published

The characterization of nuclear area, the proliferation index, and nuclear DNA content was carried out by means of digital cell image analysis, which makes it possible to compute morphometric and densitometric features on Feulgen-stained nuclei from archival, that is, formalin-fixed, paraffin-embedded materials. The 181 meningiomas studied included 173 classic (41 meningotheliomatous, 27 fibroblastic, 82 transitional, nine psammomatous, eight angiomatous and six hemangioblastic tumors) and eight malignant meningiomas (three hemangiopericytomas and five tumors that we labeled HFM, that is, tumors exhibiting evidence of histological features of malignancy). The results reveal a strong relationship between incomplete surgical resection and recurrence on the one hand and between the probability of recurrence and histopathological type on the other. Whereas neither nuclear area nor nuclear DNA content assessments were helpful in distinguishing the six classic and the two malignant meningioma subgroups, a statistically significant increase in proliferative activity was observed in the malignant meningiomas as compared with classic ones, excepting hemangioblastomas that proliferate at the same rate as the malignant meningiomas. Furthermore, the multiple meningiomas definitely proliferated more actively than the single ones, but a similar proliferative activity was observed in the nonrecurrent and recurrent meningiomas. Proliferation analyses might be therefore helpful for determining aggressive meningiomas and for planning adjuvant therapy in these cases., Journal Article, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published

We studied a 62-year-old man with Creutzfeldt-Jakob disease (CJD), using positron emission tomography (PET) and (18F)-2-fluoro-2-deoxy-D-glucose (FDG). Glucose metabolism was heterogeneously decreased throughout the brain. At autopsy, regional distributions of spongiosis, astrogliosis, and neuronal loss correlated with premortem regional metabolic deficits. These results suggest that PET with FDG may provide metabolic regional markers for CJD neuropathology., Case Reports, Journal Article, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published

The distribution values of ploidy, of the DNA histogram type, of the proliferation index and of the nuclear area are described in a series of 79 nerve sheath tumors including 7 traumatic neuromas, 55 primary and 9 recurrent benign schwannomas, 5 benign neurofibromas and 3 malignant tumors. The nuclear parameters were computed on Feulgen-stained nuclei (from archival formalin-fixed paraffin-embedded materials) by means of digital cell image analysis. The results show that 20-30% of benign nerve sheath tumors exhibit an abnormal nuclear DNA content (DNA index > 1.30). Such a feature was observed in the four groups of benign tumors, i.e. primary and recurrent schwannomas, neurofibromas and even traumatic neuromas. Aneuploid tumors exhibited triploid, hypertriploid or polymorphic DNA histogram types. The three malignant tumors under study were aneuploid. Lastly, the nuclear area and proliferation index measurements did not allow any clear distinction to be made between the four groups of benign tumors on the one hand, and between the benign and malignant tumors on the other., Journal Article, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published

Communication lors du IVth European Meeting of Neuropathology. Berlin, July 14-18, 1992., info:eu-repo/semantics/published

Neurofibrillary tangles are a neuronal change observed in various conditions, linked with dementia when affecting the cerebral cortex as in Alzheimer's disease. They may be found locally close to fibrous or vascular tumors, or affect extensive regions of the neocortex while the cerebellum and the medulla are not affected. Recent immunological and biochemical studies demonstrate that the MT-associated protein tau is the main component of the tangles, in an abnormally phosphorylated state. A consequence of the formation of tangles is a decreased assembly of MT in axons and dendrites, with disturbances of neuroplasmic flow. The relations between tangles and amyloid, as seen in Alzheimer's and Down's diseases are topographical, tangles accumulating in particular in neurites close to the amyloid in the senile plaques (but also at distance in cell bodies and neurites). Genetically and biochemically A4 or beta-amyloid and tau differ. The exact relation between the beta-pleated proteins of tangles and amyloid remain poorly understood., Journal Article, Research Support, Non-U.S. Gov't, Review, SCOPUS: ar.j, info:eu-repo/semantics/published

The authors report a case of simultaneously occurring neurofibroma and schwannoma of the sciatic nerve and discuss the complementary aspects of MR and US. The schwannoma was well-defined and showed distal enhancement on sonographic evaluation, whereas the neurofibroma was ill-defined; both tumors were hypoechoic. T1- and T2-weighted MR images revealed similar signal characteristics of the two tumors, but intense enhancement following administration of gadolinium-DTPA distinguished the schwannoma from the neurofibroma., Case Reports, Journal Article, info:eu-repo/semantics/published

Between January 1984 and December 1990, 65 intramedullary spinal cord tumors were diagnosed and operated on. In this series, all patients underwent magnetic resonance imaging investigations and were operated on with the Cavitron ultrasonic surgical aspirator whenever necessary. Major surgical difficulties have been found in patients previously treated by radiotherapy with or without biopsy. We found magnetic resonance imaging to be a highly sensitive imaging procedure and the method of choice for visualizing tumors within the spinal cord. Nevertheless, accurate diagnosis may only be suggested by magnetic resonance imaging, rather than made definitively. Surgery is necessary in every case in order to obtain a definite diagnosis. Radical surgery can be performed when a plane exists between the tumor and the normal spinal cord: biopsy or debulking with the Cavitron ultrasonic surgical aspirator should be performed when the tumor is infiltrative. We have performed 33 so-called total resections, 22 partial resections, and 10 biopsies, among which 5 were performed on lipomas. Surgical results were assessed at 3 months after surgery, showing 35 improvements (53%), 24 stabilizations (37%), and 6 deteriorations (10%).

info:eu-repo/semantics/published

Immunolabelling for synaptophysin and chromogranin A, two polypeptides associated with small clear and large dense core synaptic vesicles respectively, has been performed on tissue sections of the temporal cortex in Alzheimer's disease in combination with anti-A4 amyloid labelling. The dystrophic neurites in many senile plaques were observed to be labelled by the anti-synaptophysin or anti-chromogranin A antibodies. Some diffuse amyloid deposits, demonstrated by antibodies against synthetic amyloid A4 peptides, were associated with a punctuate increase in synaptophysin or chromogranin A immunoreactivity. The labelling of dystrophic plaque neurites may reflect the accumulation in these processes of synaptic vesicles or material derived from them. We suggest also that the punctuate increase in synaptophysin and chromogranin A immunoreactivities associated with some A4 amyloid deposits may be an early event reflecting neuronal dysfunction., Journal Article, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published

info:eu-repo/semantics/published

SCOPUS: ar.j, info:eu-repo/semantics/published

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Between January 1984 and December 1990, 65 intramedullary spinal cord tumors were diagnosed and operated on. In this series, all patients underwent magnetic resonance imaging investigations and were operated on with the Cavitron ultrasonic surgical aspirator whenever necessary. Major surgical difficulties have been found in patients previously treated by radiotherapy with or without biopsy. We found magnetic resonance imaging to be a highly sensitive imaging procedure and the method of choice for visualizing tumors within the spinal cord. Nevertheless, accurate diagnosis may only be suggested by magnetic resonance imaging, rather than made definitively. Surgery is necessary in every case in order to obtain a definite diagnosis. Radical surgery can be performed when a plane exists between the tumor and the normal spinal cord: biopsy or debulking with the Cavitron ultrasonic surgical aspirator should be performed when the tumor is infiltrative. We have performed 33 so-called total resections, 22 partial resections, and 10 biopsies, among which 5 were performed on lipomas. Surgical results were assessed at 3 months after surgery, showing 35 improvements (53%), 24 stabilizations (37%), and 6 deteriorations (10%)., Journal Article, discussion 656-7, info:eu-repo/semantics/published

The study reported was intended to compare the impressions and analyses of investigators from 11 different laboratories on 2 slides, each from 6 cases with varying quantities of neuropathological change of the type found in Alzheimer's disease and normal ageing. The material came from 6 selected female patients over 75 years of age all of whom had been examined in detail and assessed by the Blessed Test Score. Two were severely demented, 2 mildly demented and 2 were considered to be normal. Unstained paraffin-embedded slides were sent to the investigators, the choice of the staining techniques being left to each laboratory. A quantitative evaluation of the changes was requested in 2 specified areas of the hippocampus and in the first temporal gyrus. Subjective scores of severity and a final guess about the pre mortem intellectual status (demented or not) were asked. The 11 replies were analyzed. A total of 14 different staining techniques were used. Absolute values of density differed much from one investigator to another, for senile plaques as well as for neurofibrillary tangles. Statistical analysis showed that concordance might be improved by the use of corrective factors which would standardize the scales of measurement. The ranking of the slides in increasing order of severity was in good agreement for 9 out of 11 observers concerning the neurofibrillary tangles and 3 out of 9 observers concerning the senile plaques. The correlation between the intellectual status and the density of lesions was higher for neurofibrillary tangles than for senile plaques. The subjective scores were in better agreement for the severely affected cases than for the mildly affected ones. The lowest correlation with intellectual deficit was obtained with the quantitative scores which took into account only the senile plaques or only the hippocampal lesions. The highest correlation coefficients were obtained with the subjective scores. The observers guessed correctly the intellectual s, Clinical Trial, Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published

A 63 year old woman developed progressive shortness of breath, pulmonary hypertension, and respiratory failure and died from pulmonary fibrosis 45 years after thoracic fistulography with Thorotrast. Bouts of acute respiratory failure occurred with features of noncardiogenic pulmonary oedema. Lung tissue obtained by biopsy and at necropsy showed abundant radioactive particles of thorium dioxide in the lungs. The particles were congregated in the walls of blood vessels and in perivascular fibrous zones, consistent with a causal role of Thorotrast in the development of lung fibrosis. It is suggested that the fibrosis was due to the combined effects of alpha radiation on the interstitial perivascular zones and of recurrent pulmonary oedema due to endothelial damage., Case Reports, Journal Article, info:eu-repo/semantics/published

info:eu-repo/semantics/published