Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.
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Adolescent↗
Biomedical subjects
J Kałuza
Publications and source records attributed to J Kałuza.
Immunohistochemical investigations of excitotoxicity in experimental spinal cord trauma.
The concept of "excitotoxicity" assumes that high concentration of glutamate (main excitatory neuromediator) acting through specific receptors leads to damage of cells due to an influx of calcium ions. Proteins called "excitatory amino acid transporters" (EAATs), present in astroglia, play important role in the removal of glutamate. We investigated the expression of GluR2 (glutamate receptor), EAAT1, and EAAT2 by immunohistochemistry in formalin-fixed, paraffin-embedded rat spinal cords, previously subjected to experimental mechanical trauma. In the injured spinal cords, an elevated immunoreactivity of GluR2 was noted even 10 min after trauma and was still observed 2 days after injury. Strong immunoreactivity was observed not only in many cells in gray matter but also in some cells in white matter (probably glial cells). In the injured spinal cords, we observed stronger (as compared with controls) expression of EAATs in the white matter, especially 6 hours after injury. The results support the role of excitotoxicity in mechanical trauma of spinal cord suggesting a possibility of long lasting elevated expression of glutamate receptor. It may help to understand and to explain beneficial action of "anti-glutamate" drugs, reported by other investigators.
ATP-Binding Cassette Transporters↗
[Iron, zinc and copper status in the elderly living in Warsaw district determined by hair analysis].
The aim of this study was to assess the iron, zinc and copper status of elderly people using hair trace element levels determined by using atomic absorption spectrophotometry (AAS). The samples of hair were taken in May-June 1999 from 73 people aged 75-80 years (50 men and 23 women) living in Warsaw district. The mean content of iron was 17.32 +/- 12.38 micrograms/g dry weight, zinc 176.44 +/- 64.33 micrograms/g d.w. and copper 11.25 +/- 6.32 micrograms/g d.w. Although these values were in range of reference intervals almost 40% of population had iron and zinc level below them, and for copper the result was even worse (50% of the elderly people). No significant differences between trace element content in hair of male and female have been observed. However it has revealed a trend that female hair contained less iron and more zinc than male hair. The mean copper level was similar for both sexes. It has been found that subject who had not excluded any food products from their diets had higher hair iron contents than those with some dietetic restrictions.
Aged↗
[Plexus papilloma].
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Choroid Plexus Neoplasms↗
Progressive multifocal leukoencephalopathy (PML) in a patient with silicosis treated previously with steroids. A report of a case with JC virus infection confirmed immunohistochemically and by electron microscopy.
We present a case of progressive multifocal leukoencephalopathy (PML) diagnosed at autopsy, in which JC virus infection of the central nervous system was confirmed by means of electron microscopy and immunohistochemistry. The patient had been receiving steroid hormones due to suspected sarcoidosis or pneumoconiosis. Diffuse silicosis in lungs and in hilar and mediastinal lymph nodes was diagnosed at autopsy. Intranuclear inclusions, ultrastructurally typical of JC virus were found in some oligodendrocytes in the white matter. However the strongest immunopositive viral deposits were found in the cerebellar cortex, also within Purkinje cells. Numerous apparently apoptotic cells seen in white matter suggest that this mechanism of cell elimination plays an important role in PML pathogenesis and hence anti-apoptotic treatment may alleviate the symptoms and prolong survival.
Adult↗
Primary malignant lymphoma of brain. A review of four cases diagnosed by means of CT-guided stereotactic biopsy.
In a series of 66 CT-guided stereotactic biopsies (SB) of the brain performed in 1995-1998, four were found to be the primary non-Hodgkin's lymphomas (PCNSL). All cases were studied with immunohistochemistry (broad panel of antibodies; reactions performed mainly on cytological smears) and with the use of an electron microscopy. In an immunophenotyping all cases were positive for leukocyte common antigen (LCA) and 3/4 showed B-cell phenotype. Since the PCNSL are typically located in central, periventricular region of brain and the surgical removal does not bring any benefit, the stereotactic biopsy is a method of choice to make a definite diagnosis that opens the chances for implementation of chemo- and radiotherapy. The diagnostic difficulties that are derivatives of an extremely small amount of the available biopsy material were discussed and the role of the immunophenotyping and of the electron microscopy for avoiding the possible diagnostic mistakes was stressed. Cytological smears stained with H&E and the smears and histological slides with immunohistochemical reaction against glial fibrillary acidic protein (GFAP) showing sometimes extremely dense network of astrocytes mingled with neoplastic lymphoma cells are especially interesting and seem to suggest the involvement of astroglia in the pathogenesis of PCNSL.
Adult↗
Secretory meningioma of the brain. Report of two cases.
Two cases of cerebral secretory meningioma, occurring in 57 and 33-year-old females are reported. The tumors were located in the tentorial and frontotemporal region, respectively. The general histologic appearance of the tumors was of meningothelial meningioma (case 1) and meningioma with microcystic and angiomatous features (case 2). The most striking histological finding in both tumors were numerous pseudopsammoma bodies, localized chiefly around blood vessels. The inclusions were slightly eosinophilic, stained strongly with PAS method and were differing in size from 3 to 30 microns. Tumor cells containing or surrounding pseudopsammomas were immunopositive for cytokeratin and epithelial membrane antigen. In the first case, individual pseudopsammomas were strongly positive for carcinoembryonic antigen. Some diagnostic aspects of this antigen and problems regarding differential diagnosis in secretory meningioma are briefly discussed.
Adult↗
The distinct morphological and biological features of primary brain tumors and their influence upon prognosis and treatment.
Primary tumors of the central nervous system apart from features common with tumors of other organs and tissues in man show some different and distinct features which give significant meaning for prognosis and treatment. One of the most important features which characterizes their distinctness is the relation of the tumor to its surroundings. Macroscopic and microscopic evaluation of this relation decides of possibilities of an early diagnosis and totality of removal. Basing on comparison with tumors of other organs e.g. lung, stomach and liver the difficult task of differentiation of the infiltration zone with the use of morphological criteria only in glial tumors is discussed. Notice has been taken of elements which determine the limitation of totality of removal and factors conditioning the recurrences. Attention was directed on discrepancy between morphological criteria and biological activity of the tumors, specially of those which in agreement with cytogenetic classification are included to the group of tumors of astrocytic origin. Additionally, the dependency of prognosis and treatment on age and localization of the primary brain tumors have been taken into consideration.
Brain Neoplasms↗
CT-guided stereotactic biopsy of brain. Three years of experience.
In our center from 1995 up to now (08.06.99) we have performed 78 CT-guided stereotactic biopsies (SB) of brain. In all cases the stereotactic biopsy was performed as the first surgical, diagnostic procedure. Indications for SB were as follows (in brackets, the number of SBs): diffuse, inoperable tumor (43), tumor of central region of brain (19), multiple tumors (7), a change of the obscure nature in CT/NMR scan (15), stereotactic assistance of the "classic: craniotomy and surgery of tumor (4). Among 78 SBs in 49 cases the primary and in 13 cases--secondary (metastatic) brain tumors were diagnosed. In the remaining 16 cases nonspecific changes like gliosis or necrosis were found. Of 49 primary tumors 40 were gliomas. Different pathomorphological methods, including especially immunohistochemistry with GFAP, vimentin, p53, Ki-67, and topoisomerase II alpha if applied together, may at least partially help to overcome the problems of the differentiation of reactive and neoplastic gliosis. We found a grading system of gliomas according to Daumas-Duport very useful in interpretation of SB material. Our preliminary observations suggest that immunolabelling of the biopsy material by means of topoisomerase II alpha antibody may be very useful in SB since it gives technically very good results on smears and because on the grounds of what is known on this enzyme it is the "target" of many antineoplastic drugs and hence may indicate the potential sensitivity to drugs.
Biopsy↗
[Central nervous system and organ infiltration in the chronic phase of chronic myelogenous leukemia: a case report].
The case report presents a 35-year-old patient with neurological disorders caused by a solid tumour of the spinal cord and organ infiltration during the chronic phase of CML (chronic myelogenous leukemia). In spite of combined chemo- and radiotherapy, disease progression was only halted for a short time. Patient death occurred 5 months after disease diagnosis. Taking into consideration the non-typical disease course and few described case reports available in literature concerning solid tumours located in the CNS (central nervous system) with organ infiltration it appears noteworthy to discuss thoroughly the above case report.
Adult↗
Variability of localization and intensity of damage of the white matter of the brain and cerebellum in genetically conditioned diseases.
The investigations were based on 3 cases with Leigh, 5 cases with Krabbe's, 4 cases of Alpers, 2 cases with Sandhoff, 1 case with Alexander's disease and 1 case with metachromatic leukodystrophy. In 1 case included into the study we have diagnosed nonketotic hyperglycinemia II. All the diseases under examination are recognized as genetically conditioned or are supposed to be of genetic origin. Damage of the white matter in a more delineated form in certain regions was found in Leigh disease. The changes demonstrated a variable degree of intensity from demyelination to necrosis. More extensive lesions of white matter in gyri and semivoal centrum were found in diseases with simultaneously damaged gray matter e.g. in Alpers and Sandhoff disease. The most extensive changes of diffuse demyelination were found in Krabbe's and Alexander's disease. In these diseases demyelination was accompanied with specific morphological structures e.g. globoidal cells (Krabbe's disease) and Rosenthal fibers (Alexander's disease). The peculiar type of demyelination was characteristic for nonketotic hyperglycinemia of type II. It was expressed by demyelination with vacuolization.
Brain↗
[About word meaning in medicine--deliberation about language].
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Linguistics↗
Protein kinase C expression and activity in the human brain after ischaemic stroke.
We examined the expression of protein kinase C isoforms in infarcted tissue, penumbra and contralateral brain tissue from 10 patients who died between 1-52 days after ischaemic stroke. Ten patients aged 61-89 years were used in the study. Tissue samples were assayed for protein kinase C activity using a non-radioactive method, and specific isoforms expression determined by Western blotting and staining with anti-PKC polyclonal antibodies. There was a 2-24 fold increase in PKC gamma in the ischaemic penumbra of nine out of 10 patients compared to contralateral tissue. In infarcted tissue expression of PKC gamma was not significantly changed in any of 10 samples but the beta I isoform increased in eight and the beta II in nine patients. There was no significant change in expression in PKC alpha or in infarct or penumbra. Differences in total PKC activity were not specific in seven out of eight patients and it is difficult to estimate their significance. In conclusion after ischaemia there was an altered expression of PKC isoforms with an increase of PKC gamma in the surviving penumbra and beta I and beta II in the infarcted core.
Aged↗
Acute hemorrhagic encephalitis (Hurst disease) associated with neuroaxonal dystrophy.
Two cases that fulfil the clinical and neuropathological criteria of acute hemorrhagic encephalitis are described. Histological examination revealed additionally focal changes in the white matter characteristic for neuroaxonal dystrophy. The differences in the clinical course and morphological picture observed in both cases are discussed.
Aged↗
Expression of oncoprotein Bcl-2 and bax protein in the infiltration zone and in the parenchyma of primary glia-derived supratentorial neoplasms.
The aim of the study was to determine the survival of cells in the infiltration zone of the glia-derived primary tumors of the central nervous system and in the core of the tumor tissue with the use of immunocytochemical methods. According to the recent studies the proper functional relation of bcl-2 and bax proteins may play a major role in one of the possible pathways leading to cell survival or to cell death. From the point of view of the biological activity of a tumour the evaluation of cell population demonstrating the ability for survival is of importance for predicting tumour recurrence. We found that in the infiltration zone neurocytes and reactive glial cells had a strong expression of bcl-2 and weak expression of bax protein. Thus, we have concluded that the use of bcl-2 and bax can be a useful tool in the evaluation of survival activity of non-neoplastic cells in the infiltration zone and of the neoplastic cells within the tumour core. The latter cell populations can be regarded as germs responsible for tumour recurrence.
Adult↗
[Quality of life: an ethical and medical issue].
Quality of life as a criterion of evaluation of treatment and other medical activities was analysed with respect to meaning and the differences which occur in the understanding of quality of life by the physician and the patient. Attaining has been paid to these conditions under which the opinions of the physician and patient are common. It is proposed to accept the value of life as superior to quality of life. Realising such principle the possibility of compatibility of moral and pragmatic arguments could be expected in the use of quality of life as a criterion.
Ethics, Medical↗
[Congenital defects of the spinal part of the neural tube].
The abnormal closure of the neural tube results in defects of the nervous system development, which are referred to as dysraphism. Considering successive steps of the development of the human foetus, it can be estimated that spinal cord malformations arise from pathologies of early foetal development between 17th and 28th day gestational age. This time period comprises a development of the neural plate and subsequently neural tube. The development is completed with a closure of a posterior aperture of the neural tube (caudal neuropore). Congenital malformations are often caused by defective closure of the caudal neuropore. The neural plate develops about 17th day gestational age, the cerebral vesicle appears about 21st day and the neural tube forms between 17th and 20th day. The rostral neuropore closes on the day 25th as does the caudal neuropore on the day 28th. The embryo is 2.5 mm long at the time. Noxious factors acting during that period can affect normal closure of the caudal neuropore and distort the process of spinal cord canalization. The resultant defect is called spina bifida. This is the most severe form of dysraphism-rachischisis. Meninges are also affected in this defect. They cannot cover the neural canal and on the margins of the lesion are replaced by epithelium. In milder types of the defect lack of a complete bony framework is concealed by soft tissues, forming a sac of variable size over the lesion. Spina bifida can be subdivided according to the sac structure: meningocoele, meningocysticoele, meningomyelocoele, meningomyelocystocoele. Central canal pathologies constitute another form of spinal cord malformations presenting as hydromyelia. Abnormal closure of the neural tube may affect development of the vertebral column and spinal cord along their entire length or only at a certain portion. Malformations are seen most frequently in the lumbo-sacral and then cervical regions.
Humans↗
Recurrent ossifying fibromyxoid tumour of soft parts. Immunohistochemical profile and ultrastructure.
Growing bulk of evidence supports a view that ossifying fibromyxoid (OFMT) tumor histogenetically belongs to tumors derived from peripheral nerve sheath. Its precise cellular ancestor is disputable nevertheless the Schwann cell should be considered as a first candidate. Clinical behavior of this rare and usually benign neoplasm can probably vary from benign to even truly malignant, though the latter possibility is extremely rare. We present a case of recurrent OFMT located subcutaneously in the medial aspect of the knee in 66-year-old male. Macroscopically, microscopically, and immunohistochemically both primary and recurrent tumors were almost identical. Tumors were entirely negative for S-100 protein and strongly positive for neuron specific enolase. However, electron microscopy did not reveal any traces of basal lamina. Apparent lack of vascularization of tumor tissue may play an important role in the morphogenesis of OFMT.
Aged↗