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Biomedical subjects

F Gullotta

Publications and source records attributed to F Gullotta.

At least 55 records · Page 3Linked to original sources
PubMed1995

Immunohistochemical detection of p53 protein in tumours of the central nervous system.

The results of immunohistochemical detection of p53 protein in a large variety of CNS neoplasms with the polyclonal antiserum CM1 are presented. Immunoreactivity in at least several cells were regularly found in astrocytic neoplasms including glioblastomas; it was also frequent in medulloblastomas and oligodendrogliomas and could be found in more than 50% of acoustic schwannomas and esthesioneuroblastomas. Meningiomas also showed several immunoreactive cells in about 40% of the cases. Certain neuronal/neuronal-glial tumours (such as central neurocytomas, dysembryoplastic neuroepithelial tumours, gangliocytomas, dysplastic gangliocytomas of the cerebellum etc.) were consistently negative, whereas gangliogliomas (with the exception of the regularly positive desmoplastic gangliogliomas) very rarely displayed immunoreactive glial cells. Positive findings, however, seem to be more frequent in anaplastic gangliogliomas where they may be of prognostic significance. The same may be valid in ependymomas. The underlying mechanism for p53 immunopositivity, however, can be very heterogeneous and possibly even contrary (either accumulation of inactive mutant protein or detection of active wild-type protein), therefore isolated immunohistochemical findings call for very cautious interpretation.

Adolescent↗
PubMed1995

[Gerstmann-Sträussler-Scheinker syndrome in a Sicilian patient. Neuropathological aspects].

A case of Gerstmann-Sträussler-Scheinker syndrome observed in a 54 year-old woman is reported. The disease lasted over 4 years and was mainly characterized by ataxia and progressive dementia. The patient belongs to a Sicilian family and some of her relatives have been (or still are) affected by similar clinical syndromes. The neuropathological investigation disclosed an impressive number of PAS-positive amyloid deposits (plaques) in the cortex of the cerebrum and in particular of the cerebellum, in the basal ganglia and thalami as well. These plaques were of different size and morphology: multicentric and Kuru-like, cotton-wool and Alzheimer-like, compact and punctate. In some of them, remnants of dystrophic neurites were detected with ubiquitin-reaction and with the metallic method of Gallyas. No reactions were observed with tau-protein, GFAP and Campbell's method. The immunohistochemical investigations for prion-protein, kindly performed by Prof. Kretzschmar (Goettingen) confirmed that the plaques did not contain beta-protein A4, but reacted positively with anti-prion-protein. These results confirmed the diagnosis of GSS syndrome. The importance on an exact neuropathological investigation employing immunohistochemical reactions and metallic methods in every case of progressive degenerative encephalopathy with PAS-positive (amyloid) deposits (dementia of Alzheimer type, suspected Prion-encephalopathies, etc.) is emphasized. Potential infectivity of the tissue in prion-encephalopathies is deactivated soaking the blocks for histology in formic acid (95-100%) for one hour, followed by formalin for at least three days. Moreover the pretreatment with formic acid does enhance the positivity of PAS-reaction.

Cerebellum↗
PubMed1994

Infantile multiple system atrophy with cytoplasmic and intranuclear glioneuronal inclusions.

This report presents a case of infantile multiple system atrophy with probably autosomal recessive inheritance. The female patient developed generalized muscular hypotonia, myoclonias and tonic-clonic seizures at the age of 8 months, followed by gradual development of choreoathetotic hyperkinesia and increasing psychomotor retardation. Metabolic disease was ruled out and the child died of aspiration pneumonia at the age of 5 years. General autopsy was unremarkable, but neuropathological examination showed degeneration of cerebellum, inferior olives, medial thalamus, Clarke's nucleus, anterior horn cells, corticospinal, spinocerebellar tracts, and posterior columns. Immunohistochemically many neurons contained intranuclear and intracytoplasmic ubiquitin-positive inclusions, which did not contain neurofilament or tau epitopes and ultra-structurally consisted of granulofilamentous material. We tentatively classify this case as a form of infantile multiple system atrophy linked to neuronal intranuclear hyaline inclusion disease.

Cell Nucleus↗
PubMed1994

Pleomorphic pineocytoma with extensive neuronal differentiation: report of two cases.

Two pineal parenchymal tumors are presented, arising in a 54-year-old man and a 72-year-old woman; respectively. They showed isomorphic, cellular areas of small cells, often with characteristic pineocytomatous rosettes, and of medium-sized cells, as well as less cellular regions with highly pleomorphic, often ganglioid large cells. Immunohistochemistry disclosed extensive neuronal differentiation. There was intense positivity for neurofilament protein and microtubule-associated protein 2 in the pleomorphic areas and more variable expression in the isomorphic regions. Diffuse synaptophysin positivity was seen, accentuated along the borders of pleomorphic cells and in the rosettes, as well as diffuse interstitial and/or cytoplasmic expression of neuron-specific enolase, PGP 9.5 and tau. beta-Tubulin III was detected in most cells and slight positivity was found in the rosettes. Expression of glial fibrillary acidic protein, however, was restricted to resident astrocytes and an interstitial network of processes. These neuronally differentiated pleomorphic pineocytomas underline the broad histomorphological spectrum of pineal parenchymal tumors.

Aged↗
PubMed1994

[Familial akinesia-hypokinesia sequence (Pena-Shokier phenotype)].

The Pena Shokeir phenotype (PSP) is characterised by multiple ankyloses, camptodactyly, facial dysmorphisms and lung hypoplasia with hydramnios. The basic neuromuscular defect leads, through a fetal hypokinesia-akinesia, to the development of this nonspecific phenotype and a respiratory insufficiency with early postnatal mortality. Severe central nervous anomalies are described in one-third of the reported cases. In this paper a foetus with PSP and 4 further foetuses with severe cerebral malformations and only discrete lung hypoplasia are described. It is not clear whether the cerebral malformations represent a primary or secondary developmental defect.

Abnormalities, Multiple↗
PubMed1993

Reproductive failure in a patient with neurofibromatosis-Noonan syndrome.

We report on a 39-year-old man with neurofibromatosis-Noonan syndrome and long-standing infertility. Comprehensive testing did not uncover any significant endocrine abnormalities, but the testicular seminiferous epithelium was found to be severely compromised. While the occasional association of neurofibromatosis with signs of Noonan syndrome has been reported, reproductive failure has not been previously described in this condition.

Adult↗
PubMed1993

Desmoplastic ganglioglioma: report of two non-infantile cases.

Two supratentorial desmoplastic gangliogliomas arising in a 15-year-old boy and a 25-year-old man are reported. Both tumors reached the brain surface and exhibited large cysts. They showed intense desmoplasia and tumor cells of astrocytic and ganglionic differentiation. In one case the ganglionic nature was only demonstrable by immunohistochemistry. Such neoplasms can no longer be regarded as exclusively infantile brain tumors.

Adolescent↗
PubMed1993

Neuropathology of lissencephalies.

The neuropathological findings at autopsy in four cases of type I and three of type II lissencephaly are presented. Type I lissencephaly is characterized by agyriapachygyria with a markedly thickened cerebral cortex with four coarse histological layers. The normally myelinated white matter, often with neuronal heterotopias, is very narrow, and the gray-to-white matter ratio is inverted (about 4:1); there are no white-gray interdigitations. Claustrum and capsula extrema are absent. Ventricular dilatation is present, especially of the occipital horns. In the hypoplastic brain stem large olivary heterotopias can often be observed. Severe cerebellar malformations, obstructive hydrocephalus, severe eye abnormalities, and congenital muscular dystrophy are not seen. Clinically, type I lissencephaly presents as "isolated lissencephaly sequence" or as "Miller-Dieker syndrome" with characteristic facial dysmorphism. The long survival of 20 years achieved by one of our patients is very uncommon. Type II lissencephaly is characterized by widespread agyria. Usually, obstructive hydrocephalus is present with a thin cerebral mantle showing a slightly thickened cortex and a narrow, hypomyelinated white matter often with neuronal heterotopias (gray-to-white matter ratio about 1:1). The border between gray and white matter is blurred. Claustrum and capsula extrema are absent. Histologically, the cortex appears disorganized without layering; widespread leptomeningeal gliomesenchymal proliferations and glioneuronal heterotopias are present.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1993

Ocular findings in Walker-Warburg syndrome.

Ocular symptoms are frequently observed in Walker-Warburg (WWS) and associated syndromes. The majority of patients present with malformations of the anterior segment and severe retinal dysplasia. We report on the findings in a female patient with WWS who died at the age of 9 months. Major ocular findings were: severe iridocorneal malformation, a membrane-like structure of the lens and funnel-shaped retinal dysplasia. The retina presented various grades of differentiation with rosettes and atypical sequences of cells, e.g. ganglion cells intermingled between granular layers. The anterior part of the retina presented as a primitive homogeneous layer with a cell-free space that might be interpreted as the primary optic ventricle. This finding suggests that we are dealing with a primary dysplastic non-attachment rather than a real detachment of the retina in WWS. The malformation of the anterior segment was not typical of the Peters' anomaly, as usually described in WWS, but of Rieger's syndrome.

Abnormalities, Multiple↗
PubMed1993

Unusual orthochromatic leukodystrophy with epitheloid cells (Norman-Gullotta): increase of very long chain fatty acids in brain discloses a peroxisomal disorder.

Very long chain fatty acids (VLCFA) were found to be markedly increased and phytanic acid was borderline above normal in formalin-fixed brain white matter of case with an unusual type of familial leukodystrophy with epitheloid cells as described previously by Gullotta et al. [Neuropädiatrie (1970) 2: 173-186]. Increased VLCFA in brain clearly demonstrate that the patient had suffered from a peroxisomal disease. This diagnosis is corroborated by ultrastructural findings in brain showing typical lamellar inclusions. The particular type of peroxisomal disorder present in case (heterozygote of X-linked adrenoleukodystrophy?) remains speculative.

Adrenoleukodystrophy↗
PubMed1993

Motor neuron disease with pallido-luysio-nigral atrophy.

A case of motor neuron disease (MND) with pallido-luysio-nigral atrophy (PLNA) is reported. The 45-year-old male patient presented with lower motor neuron symptoms and signs of basal ganglia disturbance. He died after a progressive course of 7 months. Neuropathological examination revealed motor neuron loss at all spinal cord levels with sparing of Onuf's nucleus. Nerve cell loss and gliosis were also present in substantia nigra, globus pallidus, and subthalamic nucleus. The presence of ubiquitin-positive inclusions, a hallmark of most variants of MND, confirms this case as an example of MND. At immunoelectron microscopy the granules were distributed on filamentous material. The combination of clinically apparent PLNA with MND has only been described twice previously. The relationship of this syndrome to other forms of MND and its nosological placement are discussed.

Atrophy↗
PubMed1993

Progressive multifocal leukoencephalopathy (PML) in the acquired immunodeficiency syndrome (AIDS). A neuropathological autopsy study of 21 cases.

In a neuropathological autopsy study of 21 cases of AIDS-associated PML no fundamental morphological differences to non-AIDS PML were found. PML in AIDS often showed very large foci as well as necrotizing lesions. Partial involvement of cerebral cortex and deep gray matter were common findings; infratentorial lesions could be observed in more than three quarters of cases. Perivascular mononuclear infiltrates within PML foci were frequent and obviously not associated with a more benign clinical course. Possible reasons for these peculiarities of PML in AIDS are discussed. In 7 cases evidence of concomitant HIV encephalopathy was found; this may be one relevant factor contributing to severity of PML in AIDS. PML has to be regarded as a common complication of HIV infection, which may show atypical morphological and neuroradiological features.

AIDS-Related Opportunistic Infections↗
PubMed1993

AIDS-myelopathy. A neuropathological study.

Vacuolar myelopathy belongs to the AIDS-associated diseases. It is characterized by vacuolation and infiltration of the long tracts of the spinal cord by macrophages. The clinical and morphological findings of 8 AIDS-patients with vacuolar myelopathy are reported here. The syndrome developed during the final stages of AIDS and was associated with HIV-encephalopathy in 5 cases. The vacuoles were mainly due to intramyelinic swelling and vacuolation. Vacuolated macrophages and axons contributed only to a minor degree. In one case only, HIV-antigens were detected immunohistochemically. The results are discussed in the light of modern pathogenetical concepts of HIV-related diseases.

AIDS Dementia Complex↗
PubMed1993

[Photoablation using Excimer laser irradiation--a suitable concept for microneurosurgery?].

The suitability of Excimer laser beam for microneurosurgery was investigated in an animal experimental study. Cranial bones, cortex and the nervus ischiadicus of the rat were irradiated with 193 nm argon fluoride, 248 nm krypton fluoride, 308 nm xenon chloride and 351 nm xenon fluoride. After survival times of up to 30 days microscopic and electron optic findings of laser lesions at the tissues mentioned above, were studied. By means of the Excimer laser beam high precision tissue effects without or with only low thermal damage to the surrounding tissue were produced with any desired depth of penetration or extension. In analogy with the experiences gathered from animal experiments, a possible use is discussed for the removal of bone tissue around cranial nerves or vascular structures, of epileptogenic foci, or for cutting off pathways in pain surgery (e.g. the zone of entry of the dorsal root of spinal nerves).

Animals↗
PubMed1993

Cellular changes in the cerebellar granular layer in AIDS-associated PML.

Six cases of AIDS-associated progressive multifocal leukoencephalopathy (PML) exhibited peculiar cellular changes in the cerebellar granular layer. These cells without discernible cytoplasm showed hypochromatic nuclei about twice as large as those of normal granule cells. They were restricted exclusively to the granular layer and always surrounded PML foci. An astrocytic, leukocytic or macrophage/microglial nature was largely excluded by immunocytochemistry. Human immunodeficiency virus (HIV) antigen p 24 could not be found in these cells and there was no unequivocal detection of JC virus (JCV) DNA and no ultrastructural evidence of papovavirus particles in them. They possibly represent altered cerebellar granule cells abortively or latently infected with JCV.

Acquired Immunodeficiency Syndrome↗
PubMed1993

Monoclonal antibody MS-44B reacts with human dendritic, glial and endothelial cells: differential expression of MS-44B antigen by epidermal dendritic cells and by MS-1+ splenic sinusoidal endothelial cells. An immunohistological study.

Rat monoclonal antibody MS-44B was raised against the dendritic human melanoma cell line SK-Mel 25 and detects highly dendritic cells and endothelial cells in various human organs. Among the cells recognized are dendritic cells in lymphoid organs, such as lymph node, tonsil and spleen, dendritic cells in skin, lung and lamina propria, (astro-)glial cells in the central nervous system and mesangial cells in the kidney. In peripheral lymph nodes (and less consistently in visceral lymph nodes), MS-44B reactive cells are found predominantly in the paracortical area and in the region of the marginal sinus; in tonsils these dendritic cells are concentrated at the outer rim of the follicle, while their distribution in the white pulp of the spleen is less well defined. In skin, both dermal and epidermal dendritic cells are stained. In the dermis just beneath the dermal-epidermal border, dendritic cells may be found with their processes protruding into the epidermal basal layer. MS-44B reactive epidermal dendritic cells send their processes in a horizontal direction or into the upper epidermal cell layers. MS-44B reactive epidermal dendritic cells are neither Langerhans cells, since they lack HLA-DR antigens and CD1, nor Merkel cells, since they lack cytokeratin expression. They rather seem to constitute a subpopulation of epidermal melanocytes that are low in tyrosinase expression and do not populate the melanocyte area of the hair bulb. With regard to the endothelium, monoclonal antibody MS-44B reveals marked heterogeneity in that it preferentially stains the endothelium of large and medium-sized arterial vessels, while capillary and venous endothelia are less well stained.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1993

[Schizophreniform psychosis in paraneoplastic limbic encephalitis].

Paraneoplastic limbic encephalitis is seldom mentioned in the psychiatric literature and premortem diagnosis is rare. Affective symptoms, agitation, and memory impairment are the core features, which can predate the diagnosis of carcinoma. We report the case of a patient with bronchial carcinoma, whose clinical picture could hardly be distinguished from that of endogenous schizophrenia.

Adult↗