[Alternative Variants of Pax4 Human Transcription Factor: Comparative Transcriptional Activity].

MODY is a group of genetically and clinically heterogeneous forms of diabetes characterized by auto-somal dominant inheritance and is subdivided in 13 subtypes dependent on the gene involved. The subtype MODY9 is a very rare form caused by mutations in the gene encoding the PAX4 transcription factor which is engaged in differentiation of pancreatic beta-cells. PAX4 contains two DNA-binding domains-Paired and Homeo. Expression of the human PAX4 gene is tissue-specific. The alternatively spliced mRNA variants encode for protein isoforms which differ within their N- and C-terminal regions. In this study, the transcriptional activities of the human PAX4 variants, both known and new ones, were determined. The full-length PAX4 containing intact DNA-binding domains was found to have maximal activity in transient expression system of the firefly luciferase reporter gene under control of the insulin promoter in HEK293 cells. The transcriptional activity is significantly reduced in the variants lacking eight N-terminal amino acid residues and/or variants whose Homeo domain is truncated from the C-terminus. Similar data were obtained with the glucagon promoter reporter system. The aberrant PAX4 variants were shown to retain stability and nuclear localization.

[Transient enlargement of craniopharyngioma cysts after stereotactic radiotherapy and radiosurgery]. / Tranzitornoe uvelichenie ob''ema kist kraniofaringiom posle stereotaksicheskoi luchevoi terapii i radiokhirurgii.

Stereotactic radiotherapy/radiosurgery (RT/ES) is an effective technique for treating craniopharyngiomas (CPs). However, enlargement of the cystic part of the tumor occurs in some cases after irradiation. The enlargement may be transient and not require treatment or be a true relapse requiring treatment. MATERIAL AND METHODS: In this study, we performed a retrospective analysis of 79 pediatric patients who underwent stereotactic RT or RS after resection of craniopharyngioma. RESULTS: Five-year relapse-free survival after complex treatment of CP was 86%. In the early period after irradiation, 3.5 months (2.7-9.4) on average, enlargement of the cystic component of the tumor was detected in 10 (12.7%) patients; in 9 (11.4%) of them, the enlargement was transient and did not require treatment; in one case, the patient underwent surgery due to reduced visual acuity. In 8 (10.1%) patients, an increase in the residual tumor (a solid component of the tumor in 2 cases and a cystic component of the tumor in 6 cases) occurred in the long-term period after irradiation - after 26.3 months (16.6-48.9) and did not decrease during follow-up in none of the cases, i.e. continued growth of the tumor was diagnosed. A statistical analysis revealed that differences in the terms of transient enlargement and true continued growth were statistically significant (p<0.01). CONCLUSION: Enlargement of a craniopharyngioma cyst in the early period (up to 1 year) after RT/RS is usually transient and does not require surgical treatment (except cases where worsening of neurological symptoms occurs, or occlusive hydrocephalus develops).

[Implantation metastasizing of craniopharyngioma].

The paper describes two cases of implantation metastasizing of craniopharyngioma after its resection using combined (transcallosal and subfrontal) and pterional approach. The mechanisms of metastasizing and possible ways of prevention are discussed.

[Treatment principles of brain arteriovenous malformations of supratentorial localization in children].

Treatment of arteriovenous malformations (AVM) in children is an important problem of children surgery. An aim of the study was to determine an optimal method of treatment. We analyzed the results of examination and treatment of 300 children, aged from 3 months to 18 years, with brain AVM who were admitted to the Burdenko Neurosurgery Institute in 1995-2010. AVM of large brain hemispheres were found in 223 children and 77 children had AVM of deep brain structures. The results of the following surgeries are reviewed: endovascular surgery (64 patients), dissections of AVM (87), radiosurgery (77), combined treatment (42). Surgeries were not performed in 30 cases. The total post surgery lethality was 0,7%. It has been concluded that the method of AVM treatment in children should be chosen individually for every child on the basis of the complex analysis of several criteria (age of the child, AVM localization and angioarchitectonics as well as a variant of clinical course of the disease).

[Lipid peroxidation in the cyst fluid of craniopharyngiomas]. / Perekisnoe okislenie lipidov v kistoznoi zhidkosti kraniofaringiom.

Comparing of the craniopharyngiomas cyst fluid, collected during the surgery, with blood plasma revealed significantly enhanced lipid peroxidation and lactate accumulation in tumour cysts contents. These processes were usually more prominent in endosuprasellar than in suprasellar craniopharyngiomas. The maximum of free radical formation in conjunction with the lowest level of malondialdehyde (MDA) was observed in primary tumours with relatively high proliferation rate. Controversial parameters ratio characterised the recurrent craniopharyngiomas, and in cyst fluids of the primary tumours with low proliferation rate the medium parameter's values were observed. Thus, the estimation of free radical formation level and MDA concentration in cyst fluid of craniopharyngioma seems to be prognostic for the tumour recurrence.

[Single-photon emission-computed tomography of the brain in craniopharyngiomas in the late postoperative period]. / Odnofotonnaia émissionnaia komp'iuternaia tomografiia golovnogo mozga pri kraniofaringiomakh v otdalennom posleoperatsionnom periode.

The paper analyzes tomographic scanning images of 32 patients with craniopharyngiomas in the late postoperative period. Computed tomographic data allowed the patients to be divided into 3 groups: 1) 10 patients without signs of tumor recurrence or hydrocephalus; 2) 14 patients with recurrent cystic craniopharyngiomas; 3) 8 patients with severe hydrocephalus. Single photon emission computed tomography (SPECT) of the brain indicated regional disturbances of brain tissue blood supply in the frontobasal or frontobasotemporal regions of the right hemisphere (the area of an surgical access and of the removed tumor) and revealed them in the distal areas (frontobasotemporal regions of the left hemisphere, parietal and occipital cortices of the cerebral hemisphere or cerebellar tissue). The compensatory reserves of cerebral circulation were assessed by the foci of relative physiological hyperemia of brain tissue (the cerebellum and the medial portions of the occipital regions of the brain). The findings provide evidence for that the vascular factor is involved in the late postoperative pathological picture in patients with craniopharyngiomas.

[Clinical-neuropsychological aspects of the adaptation of patients after the excision of craniopharyngioma in childhood]. / Kliniko-neiropsikhologicheskie aspekty adaptatsii bol'nykh, perenesshikh operatsiiu udaleniia kraniofaringiomy v detskov vozraste.

40 patients aged 9-36 years were followed-up for at least 10 years after craniopharyngiomectomy. A combined neuropsychologic study according to A.R. Luria was carried out both for determination of the degree of psychic defects and for comparison with possibilities of adaptation. Symptoms of a damage of medio-basal regions of the frontal lobes and dyencephalic region were observed in all the patients. The frontal symptoms were decisive for social adaptation after the operation. The adaptation was worse in patients with more pronounced manifestations of frontal symptoms in involvement of medio-basal regions of the left frontal lobe accompanied by poor motivation and inertness. Patients with infact motivation and activity in the presence of dominant dysfunction of the medio-basal regions of the right frontal lobe appeared to be more adapted, even when there were pronounced disorders of vision and memory. The defects were compensated worse in patients operated early in childhood, with features of side cerebral dysfunction and in left-handers.

[The neuro-ophthalmological symptom complex in the clinical picture of craniopharyngiomas (the pre- and postoperative periods)]. / Neirooftal'mologicheskii simptomokompleks v klinike kraniofaringiom (do- i posleoperatsionnyi period).

The comparative analysis of the neuro-ophthalmological symptomatology of 310 patients (202 children and 108 adult persons) revealed the specific features of a disease with age in relation to the baseline growth, site and primarily extent of a tumor. A monitoring of visual functions was made in the pre- and postoperative periods (early and late). The comparison of the visual function prior to surgery, their dynamics in the postoperative period and the analysis of the anatomic and topographic relationships in the chiasm-sellar region, the specific features of tumor removal revealed the pathogenesis of visual disorders in craniopharyngiomas, including after tumor removal. Risk factors for visual dysfunctions were defined.