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Biomedical subjects

F Gullotta

Publications and source records attributed to F Gullotta.

At least 181 records · Page 10Linked to original sources
PubMedDate not supplied

Autosomal recessive generalized myotonia.

Four cases of autosomal recessive generalized myotonia are reported. Attention is drawn to the fact that this condition represents a disease entity distinct from the myotonia congenita of Thomsen, which is transmitted as an autosomal dominant trait. The clinical features of the two conditions are similar, apart from minor quantitative differences. The family history is the major tool for the differential diagnosis. The possibility of the detection of heterozygotes by electromyography is discussed.

Adolescent↗
PubMedDate not supplied

[Dentato-rubro-pallido-luysium atrophy in an infant].

After an uneventful pregnancy and labour one hour post partum a tonic-clonic seizure occurred in a female infant. In the following time a muscular hypertonicity developed and the statomotor development ceased. No clue for a neurometabolic disease was found and the child died of an aspiration pneumonia at 5 months of age. Neuropathological examination disclosed a Dentato-Rubro-Pallido-Luysium-Atrophy (DRPLA). Apart from two healthy siblings an older sister had died six months old after an almost identical clinical course. No autopsy was done in this first case. DRPLA is a rare systemic degeneration and begins to our knowledge always in adolescence or adult age. The nosological classification of this unusual case is discussed and the literature is reviewed.

Atrophy↗
PubMedDate not supplied

Autoptic findings in HIV-1 positive children.

The growing incidence of AIDS in children and newborns has been related to increasing incidence of AIDS in women. Case records were composed by 14 children with death occurring at different ages--from 1 hour to 12 years--and 1 female fetus, all with serological confirmation of AIDS. Brain and internal organs samples were collected at autopsy for morphological, immunohistochemical and "in situ" hybridization's technical examination. The prevailing extracerebral pathology observed at autopsy consisted of opportunistic infections. The cerebral findings were HIV-encephalopathy; cytomegalovirus encephalitis; vascular alterations such as necrosis and hemorrhage; calcifications and edema. Neurologic symptoms were reported in 3 children of intravenous drug-abuser mothers as drug withdrawal syndrome. HIV positivity in one or both the intravenous drug-abuser parents is the main risk factor of congenital AIDS. This factor means lack of care during the gestational stage and may determine relevant differences in the course of disease. The cerebral changes due to opportunistic infection must be differentiated from HIV-specific lesions; it has to be stressed that "diffuse" leukoencephalopathy is not AIDS-specific but can be found in every chronic encephalitis/encephalopathy especially in newborns and children. Chronologically, HIV encephalopathy appears as late manifestation of the disease, due to an infiltration of CNS of HIV-infected macrophages and not to an impairment of neuronal or glial cells infected by HIV in the early stages of the disease.

AIDS Dementia Complex↗
PubMedDate not supplied

Pigment-filled appendages of the small spiny neurons: a severe pathological change of the striatum in neuronal ceroid lipofuscinosis.

In neuronal ceroid lipofuscinosis, the small spinous nerve cells of the striatum show a conspicuous pathological change in that they develop spindle-shaped and pigment-filled appendages of the soma. The axon emerges from the tip of these expansions, the volume of which often exceeds that of the cell body. The aspiny neurons of the striatum do not show this alteration. The pigment-filled expansions close to the axon may be considered an early sign of neuronal degeneration. The small spinous nerve cell is the predominant cell type of the striatum which receives inputs from various sources. Its slowly progressive destruction might account for extra-pyramidal motor disturbances in the course of neuronal ceroid lipofuscinosis.

Adolescent↗
PubMedDate not supplied

HIV-p24-antigen-bearing macrophages are only present in brains of HIV-seropositive patients with AIDS-encephalopathy.

The central nervous system of HIV-seropositive patients with and without AIDS-encephalopathy was investigated by immunocytochemistry using the monoclonal antibody to the HIV-1 p24 core protein. Numerous p24-immunopositive mono- and multinucleated macrophages could only be detected in patients with typical histological pictures of an AIDS-encephalopathy. These findings allow the supposition that AIDS-dementia is a result of a relatively late infiltration of HIV-infected macrophages from the bloodstream into the brain and is not due to an impairment of neuronal and/or glial cells infected by HIV during the early stage of the disease.

AIDS Dementia Complex↗
PubMedDate not supplied

Immunohistochemical demonstration of the KI-67-antigen in paraffin-embedded tumor biopsies.

10 tumor specimens were processed according to a modification of the AMeX method, which allows for paraffin embedding plus immunostaining of the slices. We used this method to determine the growth fraction of tumors using the monoclonal antibody KI-67. Results were essentially the same as those obtained when studying frozen sections. The quality of the histological slices is equal to frozen sections, but greater areas of tumor can be examined. Furthermore, this method allows for compilation of a stock of tumor specimens which can be used for further immunohistochemical studies whenever needed.

Antibodies, Monoclonal↗
PubMedDate not supplied

[Pathology of the internal organs and central nervous system in acquired immunodeficiency syndrome (with special reference to opportunistic infections)].

Extracerebral and cerebral pathology in AIDS (with particular emphasis on the opportunistic infections). The Authors present the extracerebral pathology of 27 cases of AIDS observed at the Department of Pathology of Milan and the cerebral pathology of 80 cases of AIDS collected by three Institutes (Department of Pathology of Milan, Department of Pathology of Rimini and Department of Neuropathology of Münster) with particular emphasis on the pathology of the opportunistic infections. In the adults' group, the most frequent infections are the protozoan ones (T. gondii) followed with equal incidence by the viral and fungal diseases. In the pediatric group the viral diseases are the most frequently seen. Almost all of the adults show multiple infections in the same organ or in different organs. Diffuse lesions with heavy pathologic fields were observed also without tissue reaction. As to cerebral pathology AIDS' patients with opportunistic infections show focal symptoms, whereas the so called "subacute microglial encephalitis" generally appears as a demential syndrome. In cases with progressive multifocal leukoencephalopathy JC virus was always found and in one case also SV 40 - and BK virus. The diffuse demyelinization in some cases of HIV-Encephalopathy is aspecific. In HIV-positive newborns with cerebral signs, the lesions are characterized by oedema, spongiosis and microcalcifications of the basal ganglia; these are aspecific lesions which can be found in toxic and infectious encephalopathies.

Acquired Immunodeficiency Syndrome↗
PubMedDate not supplied

[Primary teratocarcinoma of the pineal region].

Primary Teratocarcinoma of Pineal Region. A case of a 12 year old boy admitted for intracranial hypertension of sudden onset has been reported. CT scanning and MR showed a triventricular hydrocephalus due to a space-occupying lesion of the pineal region. Tonic-clonic fits of the upper limbs and Parinaud syndrome were followed by loss of consciousness. Intervention I: ventriculo-peritoneal shunt with sampling of CSF and assay for beta-HCG, alpha FP and CEA, which proved negative. Cytology for neoplastic cells in cerebrospinal fluid was negative. Intervention II: grossly total removal of the tumor. This was followed by partial remission of Parinaud syndrome, total remission of the hypertensive symptoms and discharge on day 12. The 3 cm. whitish-pink tumor of rubbery consistency proved on histological examination to be a teratocarcinoma. The patient was further submitted to chemioterapy and irradiation but died 7 months after the second intervention. This is a rare tumor, much more than teratoma of the pineal gland, which is relatively frequent. It is interesting histologically because of the presence not only of chondroid and mesenchymal portions but also of adamantinomatous rudiments and of epithelial zones resembling embryonal carcinoma of the testis.

Biomarkers, Tumor↗
PubMedDate not supplied

[Neuronal ceroid lipofuscinosis. Description of a case].

The Authors describe a case of Batten-Bielschowsky disease and how they made the diagnosis. It's stressed the importance of the pathological examination, in the absence of any laboratory tests for the diagnosis of this disease.

Cerebellum↗