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D Gambarelli

Publications and source records attributed to D Gambarelli.

124 records · Page 7Linked to original sources
PubMedDate not supplied

Lithostathine and pancreatitis-associated protein are involved in the very early stages of Alzheimer's disease.

According to one of the theories formulated to explain the etiology of Alzheimer's disease (AD), amylosis may reflect a specific inflammatory response. Two inflammatory proteins, lithostathine and PAP, were evidenced by immunohistochemistry in senile plaques and neurofibrillary tangles of patients with AD. In addition, lithostathine and PAP were significantly increased in the cerebrospinal fluid of patients with AD when compared to patients with multiple sclerosis, another inflammatory disease, and to normal control subjects. However, no correlation was observed with age of occurrence. Furthermore, lithostathine and PAP were increased even at the very early stages of AD, and their level remained elevated during the course of the AD unlike TNFalpha whose level, very high at very early stages, regularly decreased. Finally, if part of lithostathine and PAP are synthesized in the brain, a large part comes from serum by passage over the blood-brain barrier. These results indicate (i) the existence of an acute phase response followed by a chronic inflammation in AD, and (ii) that lithostathine and PAP are involved even at the first pre-clinical biochemical events of AD. In addition, because lithostathine undergoes an autolytic cleavage leading to its precipitation and the formation of fibrils, we believe that it may be involved in amyloidosis and tangles by allowing heterogeneous precipitation of other proteins.

Acute-Phase Proteins↗
PubMedDate not supplied

Fetal abnormalities detected by sonography in low-risk pregnancies: discrepancies between pre- and post-termination findings.

In this geographically based study the findings on 158 abnormal fetuses, primarily diagnosed by routine antenatal ultrasound, are correlated with the results of the examinations subsequently carried out by a fetopathologist and a clinical geneticist. Ninety fetuses (57%) had a single malformation, 66 were polymalformed (42%) and 2 had no malformations. In 90% of all these cases, the prenatally and postnatally detected anomalies were identical; in 3% the defect established at necropsy was different from that diagnosed prenatally, and in 7% the predicted anomaly was absent. These values did not depend on whether single or multiple malformations were involved. In 57% of the polymalformed cases, however, the ultrasound examination missed at least one other diagnosable anomaly. On the basis of pathological and clinical genetic expertise, a risk of recurrence of the anomaly was revised in 13% of the single malformed cases and in 53% of the multiple ones, i.e., in 30% of all the cases of malformation on average. This study confirms the need for the fetus to be examined by a pathologist and a clinical geneticist after termination of a not 'at risk' pregnancy in order to check the accuracy of the sonographic procedure, to confirm the reasons for terminating the pregnancy to the parents, and to be able to monitor the next pregnancy based on an accurate assessment of the risk of recurrence.

Abnormalities, Multiple↗
PubMedDate not supplied

Cytogenetic studies in 45 pediatric brain tumors.

Brain tumors are the most frequent childhood tumors. There have been few cytogenetic studies published on these tumors in children compared to the numerous studies on adult brain tumors. We examined chromosomes from 45 primary pediatric brain neoplasms including 14 medulloblastomas, 12 astrocytomas, 4 glioblastomas, 7 ependymomas, 5 craniopharyngiomas, 2 meningiomas, and 1 ganglioglioma. Chromosomal abnormalities were found in 10 medulloblastomas out of the 14 analyzed. The most frequently observed abnormalities were the total or partial loss of one chromosome 17: monosomy 17, i(17q), and a monosomy 22 in 4 cases of desmoplastic medulloblastoma. In glioblastoma, we observed the gain of chromosome 7, chromosome 3, a monosomy 10, and hyperdiploidy. The loss of chromosome X was observed in 2 cases of ependymoma as was a monosomy 22. Our observations show that from the cytogenetic point of view childhood brain tumors differ from adult brain tumors.

Brain Neoplasms↗
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[Ultrastructural study of a Masson's "humid meningioma"].

The authors report the ultrastructural analysis of a Masson's humic meningioma. The tumor presents at the electronic microscopic examination every sign of secretive hyperactivity and does not show any degenerative characteristics. The existence of an important extracellular material rich in pre-collagenic fibres accounts for lacunar texture of this neoplasia at optic microscopic investigation; the role played by tumoral cells in the elaboration of the material is taken into account and seems to corroborate histogenic ecto-mesenchymatous theory of arachnoidal cells.

Capillaries↗
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[Senile plaque].

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Age Factors↗
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[Periodic paralysis. Histological, histochemical and ultrastructural studies in five cases (author's transl)].

Muscle changed found in five patients with periodic paralysis are described. Three patients had familial hypokaliemic paralysis, one had familial periodic paralysis with hyperkaliemia, and one had periodic attacks of muscular weakness with thyrotoxicosis. According to the stage in the clinical course at which biopsy was performed, several pathological patterns are described. Vacuolization was the main feature in the early stages of periodic paralysis. Later in the clinical course, tubular aggregates were the characteristic findings. In addition, degenerative changes of the muscle fibres were found in patient exhibiting a permanent myopathic condition. In thyrotoxic periodic paralysis, the longer the clinical course, the more severe the changes appeared to be. Possible mechanisms leading to such structural abnormalities remain in question.

Adolescent↗
PubMedDate not supplied

[Cognition disorders and parkinsonian syndrome: diffuse Lewy body disease?].

A 68 year old man developed progressive cognitive impairment with an akinetic-rigid syndrome which was atypically responsive to levodopa. The patient died after 18 months and the postmortem examination showed typical Lewy bodies in the substantia nigra and pale bodies in the cortex which were unlabelled by ubiquitin antibodies. This case is particular by the neuropathological examination (no immunoreactivity to antibodies against ubiquitin) and by the abnormal response to treatment (dystonia). These two aspects are discussed.

Aged↗
PubMedDate not supplied

Devic's neuromyelitis optica: a clinicopathological review of the literature in connection with a case showing fatal dysautonomia.

A new clinicopathological case of Devic's neuromyelitis optica, including unusual predominant clinical features (fatal dysautonomia) is described herein: pathological examination showed extensive and severe demyelination mainly involving the optic nerves, the medulla, and spinal cord, which was particularly pronounced in the thoracic segments, and thus explained the unusual vegetative symptomatology. In a review of 45 clinicopathological cases described in the literature as Devic's disease (DD), it turned out that only 22 cases, including the patient described here, fulfilled the recently defined diagnostic criteria [Devic 1980]. Among the other 23 cases, 15 did not fulfill the criteria because of the occurrence of relapses, 3 others had 2 separate pathological locations within the spinal cord, and the remaining 5 showed evidence that a disease other than DD was involved. Among the 22 cases which were definitely taken to be DD, the mean age at clinical onset was 39 years (+/- 14); it was characterized by acute bilateral visual loss and transversal myelitis which gradually led either to death or to partial or complete recovery. The pathological lesions, which mostly were located along the optic tracts and the spinal cord, were characterized by demyelination with inflammation and necrosis; in some cases the pathological process diffused into the medulla (8/22 cases) or the whole brainstem (4/22 cases). The cavitation of the spinal cord was not a key feature of the diagnosis, since it was observed on only 9/22 cases. Devic's neuromyelitis optica may be a separate nosological entity which differs from multiple sclerosis.

Autonomic Nervous System Diseases↗