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F Gullotta

Publications and source records attributed to F Gullotta.

At least 37 records · Page 2Linked to original sources
PubMed1997

Three-dimensional reconstruction of senile plaques in Alzheimer's disease.

So far, the three-dimensional approach to senile plaques, one of the principal histopathological hallmarks in Alzheimer's disease besides neurofibrillary tangles, has been scarce. Two main problems in three-dimensional reconstruction of histological specimens are the horizontal distortion during the preparation of serial thin tissue-slides and the need for consecutive vertical readjustment. This is greatly facilitated by the reflection contrast microscope (Leica, Germany) which is a light microscopical instrument causing interference patterns and reflections along interfaces by means of circularly polarized epi-illumination. Using this technique, one can obtain distinct optical sections of a depth of 1.5 microns within specimens up to 30 microns in thickness, thus preserving the integrity of the observed object and rendering a manual alignment superfluous. We applied the reflection contrast microscope (RCM) on thick tissue-slides of the cerebral cortex of a patient suffering from Alzheimer's disease which had been dyed according to Campbell. This is a silver-based staining method detecting beta A4-amyloid, the main component of senile plaques. Under the RCM, these silver-stained extracellular amyloid deposits cause reflections which allow the assessment of their three-dimensional distribution by focusing through the specimen. The optical sections obtained in this way were digitized, and the identified senile plaques reconstructed by the grey-scale image analysis system VIDAS 2.5 (Zeiss/Kontron, Germany).

Aged↗
PubMed1997

Analysis of a protein kinase C-alpha mutation in human pituitary tumours.

It is generally accepted that protein kinase C-alpha (PKC-alpha) is an important enzyme in the cellular regulation of growth and differentiation by phosphorylating proteins. Recent studies have described a point mutation of PKC-alpha (position 908 of the genetic sequence, codon GAC becoming GGC) in invasive human pituitary tumours which leads to an exchange of amino acids in the protein. We investigated 11 human pituitary tumours to evaluate the data obtained previously. cDNA was subcloned and up to ten individual clones were sequenced from each tumour, resulting in 85 clones analyzed in total. All of the pituitary adenomas showed a normal wild-type sequence of PKC-alpha DNA. Even if the tumour was 'invasive' (infiltration of the dura mater) no mutation at position 908 of the sequence was found. Moreover, using Western blot analyses we did not observe any differences in PKC-alpha protein expression in invasive as compared with noninvasive pituitary adenomas. Until now we have been unable to confirm the data of other investigators, suggesting that mutated PKC-alpha is an inconsistent feature of invasive pituitary tumours.

Adenoma↗
PubMed1997

Malignant peripheral nerve sheath tumor with extensive miliary metastases: a case report.

We report the course of a 19-year-old female who presented with a 13-year history of an occipital dermal tumor. Only five weeks after excision, the patient succumbed to cerebral dysregulation due to extensive miliary cerebral, hepatic, and pulmonary metastasis. The histologic features of the surgical specimen and the autopsy material differed suspiciously: a peculiar malignant progression of the tumor seemed to have occurred within five weeks.

Adult↗
PubMed1997

Prenatal diagnosis of a highly undifferentiated brain tumour--a case report and review of the literature.

Intracranial tumours, often presenting with progressive hydrocephalus, are rare congenital diseases accounting for 0.5-1.5 per cent of all cases of brain tumours diagnosed during childhood. The differential diagnosis includes vascular malformations, infarctions, and haemorrhages. Sonographic signs suggestive of glioblastoma, teratoma, and astrocytoma do not establish the histological diagnosis, however. We report a case of an undifferentiated fetal glioma detected at 29 weeks' gestation. The diagnosis of an undifferentiated brain tumour was suspected by sonography because of the lack of normal brain structures in conjunction with a diffuse echogenic central lesion and an external hydrocephalus. Because of the very poor prognosis, we induced labour by intravaginal and intravenous administration of prostaglandin E2 and achieved the vaginal delivery of a stillborn child whose head circumference corresponded to 38 weeks of pregnancy. Histological and immunochemical features of this undifferentiated congenital glioma (glioblastoma) are presented.

Adult↗
PubMed1997

Iodine-123-alpha-methyl tyrosine in gliomas: correlation with cellular density and proliferative activity.

UNLABELLED: Amino acid transport rate in gliomas can be assessed using SPECT and the amino acid L-123I-alpha-methyl tyrosine (IMT). This study attempted to correlate the uptake of IMT by gliomas with the proliferative activity and cellular density of these neoplasms. METHODS: The study used 27 patients with gliomas, including 18 patients with high-grade tumors and nine patients with low-grade neoplasms. Amino acid transport rate was determined using IMT and the triple-headed SPECT camera. Proliferative activity was immunohistochemically assessed as the relative number of cells expressing the Ki-67 nuclear antigen; cellular density was evaluated using light microscopy. RESULTS: Relative IMT uptake correlated significantly with the proliferative fraction of tumor cells (r = 0.6, p < 0.001). There was no significant correlation between IMT uptake and cellular density (r = 0.25, p > 0.05). CONCLUSION: The uptake of the SPECT radiopharmaceutical IMT is related to proliferative activity rather than to the cellular density of gliomas.

Astrocytoma↗
PubMed1996

A new germline TP53 gene mutation in a family with Li-Fraumeni syndrome.

This report describes an unusual clinical presentation of Li-Fraumeni syndrome. Family history revealed a mild aggregation of adult cancers in one generation, and an unusual clustering of brain tumours of early childhood in the following generation. In order to evaluate the genetic basis for cancer predisposition in this family, molecular genetic analysis for the occurrence of germline TP53 tumour suppressor gene mutations was performed on 12 siblings of two generations. Indirect mutation analysis was performed by the single-strand conformation polymorphism (SSCP) technique. Alterations were characterised by automated direct fluorescence sequencing analysis. Tumour material was also examined for p53 protein accumulation by immunohistochemistry. Initially, a TP53 gene germline missense mutation was detected in an 11-year-old kindred with acute myeloid leukaemia (AML) following intensive treatment of a brain tumour. In peripheral blood and bone marrow samples of this proband, a reduction to hemizygosity occurred. During AML treatment, detection of LOH of 17p was used as a marker for clonality and treatment control. The mutation was found to be inherited from the proband's mother, who was diagnosed with breast cancer at the age of 48 years. Further, three siblings were carriers, and two are apparently healthy at the age of 21 and 23 years. Knowledge of germline mutations may allow accurate DNA-based carrier diagnosis which is of important clinical significance for treatment strategy and control. Furthermore, the occurrence of unaffected carriers in this family raises questions about appropriate methods of cancer surveillance and counselling for these people.

Adult↗
PubMed1996

Differentiation of rare leukodystrophies by post-mortem morphological and biochemical studies: female adrenoleukodystrophy-like disease and late-onset Krabbe disease.

Two 6-year-old patients with clinical signs of leukodystrophy had no nosological diagnoses in vivo. Neuropathological studies revealed scavenger cells to be clustered in perivascular regions of the demyelinated brains. Histochemical and ultrastructural details of the non-metachromatic storage macrophages suggested lipid storage and prompted a biochemical analysis of cerebral tissue. The detection of increased amounts of very long chain fatty acids in the cholesterol ester fraction from formalin tissue in one patient was consistent with a diagnosis of an adrenoleukodystrophy-like condition, while the marked reduction in beta-galactocerebrosidase activity in a frozen brain sample of the second patient indicate Krabbe disease. The diagnostic potential of post-mortem studies in rare leukodystrophies is addressed.

Adrenoleukodystrophy↗
PubMed1996

[Consensus report: tissue handling in suspected Creutzfeldt-Jakob disease and other spongiform encephalopathies (prion diseases) in the human. European Union Biomed-1 Concerted Action].

Despite many sensational and intimidating reports in the mass media, transmissible spongiform encephalopathies (prion diseases) are not contagious in the usual sense. Successful transmission requires both specific material (an affected individual's tissue, from or adjacent to CNS) and specific modes (mainly penetrating contact with the recipient). Nevertheless, specific safety precautions are mandatory to avoid accidental transmission and to decontaminate any infectivity. The autopsy is essential for definite diagnosis of these disorders. Recommendations are given here for safe performance of the autopsy, for neuropathology service and appropriate decontamination; they are based on the current literature and on precautions taken in most laboratories experienced in handling tissue from transmissible spongiform encephalopathies. In essence, special care must be taken to avoid penetrating wounds, possible contamination should be kept to a minimum, and potentially infectious material must be adequately decontaminated by specific means. The full English text of this Consensus Report was published in Brain Pathology 5: 319-322 (1995).

Autopsy↗
PubMed1995

Pigment variant of neuronal ceroid-lipofuscinosis.

A 6-year-old girl had progressive ataxia, and visual disturbances resulting in blindness. She died in her sleep at age 22 years. She shared with her sister and paternal relatives bilateral pes cavus deformities and impaired deep-tendon reflexes which suggested Charcot-Marie-Tooth disease. Her sister, who also had both polyneuropathy and a progressive central nervous system (CNS) disease, did not have pigmentary retinopathy. At autopsy, the patient was found to have neuronal ceroid-lipofuscinosis (NCL) marked by intraneuronal accumulation of autofluorescent granular lipopigments in ballooned perikarya and conspicuous extraneuronal pigmentation of subcortical grey matter, but without axonal spheroids. These findings indicate a pigment variant of NCL and represent one of very few patients recorded. The ultrastructure of the intraneuronal pigments was uniformly granular, while that of the extraneuronal pigments found within processes of the neuropil and glial perikarya was more variegated. In addition to those patients with the pigment variant of NCL, described earlier by Jakob and Kolkmann [1973: Acta Neuropathol (Berl) 26:225-236], and Jervis and Pullarkat [1978: Neurology 28:500-503], our patient shared clinical symptoms with those described in a family afflicted with polyneuropathy and NCL by Wisniewski et al. [1987: J Child Neurol 2:33-41]. Currently, it is unclear whether they have similar atypical forms of juvenile NCL (JNCL). We conclude that the spectrum of pigment variants in lysosomal diseases is heterogeneous: only few and recently described patients have had NCL, while others most likely had other forms of lipidosis.

Cerebral Cortex↗
PubMed1995

Dysembryoplastic neuroepithelial tumour of the cerebellum.

A case of dysembryoplastic neuroepithelial tumour of the cerebellum occurring in a 28-year-old woman is presented. The lesion extended from the cortex of the inferior vermis upwards into the white matter. Histologically, it exhibited areas of microcystic cerebellar astrocytoma and glial regions with hamartomatous blood vessels as well as areas with oligodendrocyte-like cells (OLC) with a delicate, fibrillary stroma lying in a mucinous, often microcystic matrix. The OLC showed prominent rosette formation and immunohistochemical features suggesting neuronal, i.e. granule cell, differentiation.

Adult↗
PubMed1995

[Neurocysticercosis].

A 54-year-old female patient with a 10-year history of ventriculoperitoneal shunt resulting from communicating hydrocephalus of undetermined aetiology is reported. Transient gait disturbances and cerebral infarction at the age of 46 did not lead to further insights into the nature of the disease. After many years with only occasional disturbances, a distinct organic brain syndrome developed. Thorough examination led to a tentative diagnosis of neurocysticercosis; this was based on the history, liquor diagnosis and cerebral microcalcifications in CT. Despite the initiation of specific therapy, the patient died of the sequelae of the disease. At autopsy, characteristic cicatricial residues of mainly basal leptomeningitis were found with collapsed parasitic cysts. Additional intracerebral mesenchymal-glial reactions were less conspicuous. Residual ependymitis had caused aqueductal stenosis. Death was due to cachexia, bronchopneumonia and a lung abscess. The clinical course and morphology of neurocysticercosis are discussed. The disease has become rare in our country, but is globally the most important parasitic disease of the central nervous system.

Brain↗
PubMed1995

[Prolactin producing hypophyseal carcinoma. Case report of an extremely rare metastatic tumor].

A 59-year-old male patient was transnasally operated on because of a pituitary adenoma with hypopituitarism. A second operation and X-ray therapy followed a half year later due to recurrent tumor. Both neoplasmas were classified as sparsely granulated prolactin cell adenomas. Immunohistochemical studies revealed strong immunoreactivity for prolactin and FSH in the tumor cells of both the pituitary adenoma and the recurrent tumor. Two years later the prolactin plasma levels were extremely elevated. A tumor in the liver was identified. Biopsy revealed a solid endocrine tumor containing prolactin by immunohistology. Due to structural and immunohistological similarities this tumor could be identified as a metastasis of the pituitary tumor. After 5 months of therapy the patient died from thrombembolism. Post-mortem studies confirmed the diagnosis of a metastasizing prolactin-secreting pituitary carcinoma. Only six similar cases have been reported in the literature. Our case report confirms the experience with 35 definite pituitary carcinomas reparted in the current literature: malignant pituitary tumors develop after pituitary surgery and can be identified not from the pituitary tumor, but only from its metastases.

Combined Modality Therapy↗
PubMed1995

Tissue handling in suspected Creutzfeldt-Jakob disease (CJD) and other human spongiform encephalopathies (prion diseases)

Despite many sensational and intimidating reports in the mass media, transmissible spongiform encephalopathies (prion disease) are not contagious in the usual sense. Successful transmission requires both specific material (an affected individual's tissue, from or adjacent to CNS) and specific modes (mainly penetrating contact with the recipient). Nevertheless, specific safety precautions are mandatory to avoid accidental transmission and to decontaminate any infectivity. Autopsy is essential for definite diagnosis of these disorders. Recommendations are given here for performance of the autopsy, for neuropathology service and appropriate decontamination; they are based on the current literature and on precautions taken in most laboratories with experience in handling tissue from transmissible spongiform encephalopathies. In particular, special care must be taken to avoid penetrating wounds, possible contamination should be kept to a minimum, and potential infectious material must be adequately decontaminated by specific means.

Autopsy↗
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

Peculiar meningeal tumour in a 4-months old baby: malignant fibrous histiocytoma?

The histological examination of a meningioma-like tumour operatively removed from the left frontoparetial region of a 4-months-old baby, disclosed a high-cellular malignant neoplasia built up by streams of elongated spindle-shaped cells, and with a predominant storiform-pattern as usually seen in malignant fibrous histiocytoma (MFH). Immunohistochemical reactions for alfa-I-ACT and Lys were negative; tumor cells expressed vimentin. Electronmicroscopy disclosed fibroblast-like cells. This tumour was compared with a recurring malignant fibroblastic meningioma characterised, in the recurrence, by storiform areas. In this second tumour, alfa-I-ACT was highly positive. Questions concerning the occurrence of primary cerebral MFHs are discussed. The immunohistochemical findings in-the tumours of the present investigation underline the not-specificity of so-called histiocytic markers.

Histiocytoma, Benign Fibrous↗