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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Biomedical subjects
Publications and source records attributed to I Kojder.
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In an interface between brain tumour and surrounding tissue there occur simultaneously two very important phenomena. On the one hand there is a proliferation of peritumoral vessels penetrating into the neoplasm in which they make alike tumoral vessels. On the other hand, neoplastic cells penetrate from the tumour into the vicinity along peritumoral vessels. To determine the influence of the histological type of different brain tumours, their malignancy degree as well as location in the central nervous system on peritumoral vessels morphological appearance, the detailed morphometric analysis was carried out. The morphological examination and computerised morphometric analysis were conducted on 166 primary and metastatic CNS neoplasms taken during routine neurosurgical procedure. It turned out that the peritumoral angiogenesis depends predominantly on the malignancy of brain tumours. This angiogenesis may be modified by local environmental factors--it is more evident within the white matter than in the cerebral cortex. One of the important factors may be reactive peritumoral astrogliosis. There is no specific CNS region predisposed to the development of peritumoral angiogenesis.
The visual space-hand localization from each eye and by each hand was examined by means of a localizer. Two kinds of examination were performed: one checked the initial, the other the postexercise localization. The dominance of the cerebral hemispheres was determined by psychological tests. No dependence of the behaviour of the visual hand localization on the domination of a given hemisphere was shown.
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Two cases of pleomorphic xanthoastrocytoma (P X A) of young subjects (Kepes et al., 1979) are reported. Case 1 arose in 15-year-old boy admitted to the hospital with the complaint of severe headaches associated with nausea and vomiting of 1 month's duration. Computed tomographic scans showed a large well-defined low density area in the left temporo-parietal region of which an anterior portion was enhanced by contrast medium. Craniotomy revealed a large superficial and cystic tumor with a mural nodule. Histological and immunohistochemical features were those of a P X A confirmed by an electron microscopic study. No radiotherapy was given. The patient made a complete recovery, and 32 months later was asymptomatic. Case 2, a 17-year-old boy was admitted to the hospital in 1977. He presented with seizures that started 18 months prior to surgery. Carotid and humeral angiograms and air studies indicated the presence of a right, internal temporal mass with herniation. The craniotomy revealed a firm superficial tumor with an infratentorial, extraparenchymal extension. The histological diagnosis was giant cell glioblastoma or gliosarcoma. The patient received post-operative radiation of 5.500 rads and chemotherapy (CCNU and VM 26). He died on the 7th post-operative month. In this 2nd case, the diagnosis of P X A was made retrospectively based upon histological and immunohistochemical observations similar to case 1. We are aware of 24 P X A in the literature. In their clinical and histological features these neoplasms resemble closely each other. P X A are superficial, supratentorial astrocytomas occurring in youngs subjects (ages 3 to 32). Their typical microscopic structure include a marked cellular pleomorphism with bizarre giant cells, some mitotic figures and no necrosis. Many cells contain lipid and hyalin droplets in their cytoplasm. Characteristically, the tumoral stroma contain a very rich reticulin fiber network. Immunoperoxidase technique reveal glial fibrillary acidic protein in the tumor cells. Electron microscopic studies demonstrate abundant intracytoplasmic glial filaments. Individual cells or group of cells are surrounded by a prominent basal lamina. Some hemidesmosomes or primitive attachments are seen at the margins of the tumor cells. The biological behaviour of PXA with or without radiotherapy is relatively favorable. Long survival times (up to 25 years) are reported but in 5 cases, P X A follow a less favorable course with malignant transformation and death. Morphologic and immunohistochemical studies support the subpial astrocytic origin of P X A.
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On the basis of neurological, psychological and computed tomographic studies of the head early consequences of microsurgical elimination of supratentorial brain aneurysms were analysed in a group of 37 patients. It was shown that this method of aneurysm treatment may lead to brain oedema near the operation site. Oedema development was observed most frequently in cases of prolonged pressure exerted by spatulae on the brain tissue during the operation, aneurysm location in the anterior cerebral artery system and in cases operated on from 4 to 10 days after subarachnoid haemorrhage.
The authors present the technique and the obtained results of surgical treatment of vascular malformations in the upper part of the basilar artery in 14 patients using a trans-sylvian microsurgical approach. The techniques of subfrontal and subtemporal approaches are compared.
Late internal hydrocephalus has been diagnosed in 68 (44%) out of 154 patients treated for the ruptured cerebral aneurysms, and in 37 (31%) out of 120 patients, who underwent cranio-cerebral trauma. To establish the indications for shunts, CT scans of the skull, tomoventriculography, and infusion tests have been carried out in 38 patients. It has been found, that increased transparency of the areas below cerebral ependyma, the lack of cerebral cortex sulci, and imaging of the temporal horns together with internal hydrocephalus in CT scans indicate an active process and are indications to shunting. If there are no signs of active process in CT scans despite of the presence of hydrocephalus, tomoventriculography should be performed to establish more fully the indications to shunting.
The analysis of intracranial pressure records in 95 cases of non-traumatic intracerebral haematoma is presented. In 74 cases continuous recording was done. No correlation was found between the values of this pressure and consciousness disturbances. Three types of pressure change patterns were demonstrated: type A - low or normal values unchanging in 43 cases, type B - high initial values with normalization during conservative treatment, type C - very high initial values which decreased after operation in only some patients.
The results are presented of measurements of the intracranial pressure, pressure instability index and shifting of ventricular structures in 42 patients with non-traumatic intracerebral haematoma. Only the value of the instability index showed a correlation with the state of consciousness. For a more complete assessment of the state of sufficiency of the intracranial pressure compensation mechanism all these parameters should be analysed jointly.
The effects of classical and microsurgical methods of exclusion of supratentorial intracranial aneurysms on the development of ischaemic changes at the site of approach to the aneurysm were studied. In cases of internal carotid artery aneurysms and middle cerebral artery aneurysms the use of microscope reduced the occurrence of ischaemic changes at the site of approach. In cases of aneurysms of the anterior cerebral artery system the frequency of these changes was similar with both methods. The size and location of these changes and the degree of psychical changes caused by them were similar with both methods.
An original method of qualification for surgical treatment of patients with non-traumatic intracerebral haematoma is described. The qualification is based on the main elements of the intracranial volume compensation: 1. function of midline structures (F), 2. intracranial pressure features (I), 3. midline structure shift (S). The FIS method was applied in 134 patients; 83 of them were treated surgically and 51 were treated conservatively. The control group comprised 60 patients treated surgically or conservatively with qualification based on other criteria. The use of the FIS method in the preliminary management of patients with non-traumatic intracerebral haematoma made possible a great increase of the survival rate and improvement of the late results of treatment.
The authors describe a case of spinal cord injury close to the site of its junction with the medulla. The injury was caused by the sharp end of joiner file. Following the injury a neurological syndrome developed indicating selective direct injury to the pyramidal tract in the left lateral funiculi of the cord and to the pathways of deep sensation on the left side, as well a transient injury to the pathways of superficial sensation on the side.
On the basis of neurological, psychological and computed tomographic examinations of the head late consequences are presented of classical exclusion of middle cerebral artery aneurysm. It was demonstrated that compression of the brain with a spatula and the extent of shifting apart of the walls of the lateral fissure of the brain during the operation may lead to ischaemic changes in the temporal lobe near the lateral fissure. These changes may cause impairment of mental efficiency late after the operation. It was shown also that during the operations for aneurysms of the middle cerebral artery at the site of its division the approach by forcing apart the fissure over the site of division would be less damaging than the approach along the trunk of the artery.