[Encephalopathy GNAO1]. / Entsefalopatiya GNAO1.

OBJECTIVE: To study the clinical picture of all patients with GNAO1 encephalopathy detected in the Russian Federation. This publication is a multicenter study combining data from epileptological centers in Moscow, Novosibirsk, St. Petersburg, Nizhny Novgorod, Tyumen. MATERIAL AND METHODS: Nine patients were included, aged 2 to 19 years, with 4 mutations. Male to female sex ratio = 5:4. RESULTS: 8 patients (5 with mutation c.607G>A (p.Gly203Arg), 1 - c.155A>G (Gln52Arg), 1 - c.485G>A (p.Arg162Gln)) had a variant of epileptic encephalopathy, developmental encephalopathy, 1 patient had torsion dystonia without epilepsy (mutation c.713A>G (p.Asp238Gly)). Epileptic seizures in 8 children with epileptic encephalopathy GNAO1 in 100% debuted at 1 month of life, becoming the earliest symptom of the disease. Motor development delayed in 100% of cases. Mental development was not affected only in the case of the dystonic variant. Hyperkinesis (dystonia, choreoathetosis, ballism) followed later, from 2 to 8 months. They were more severe than epilepsy. 4 patients with the c.607G>A (p.Gly203Arg) mutation developed repeated dystonic storms that were resistant to most drugs. CONCLUSION: Epilepsy in GNAO1 is difficult to treat, but temporary or complete remission is possible. Effective drug strategies for the treatment of hyperkinesis have not yet been developed. Expansion of indications for surgical therapy (DBS) of hyperkinesis in this syndrome is desirable.

[Epilepsy and other phenotypic features of X-linked intellectual disability caused by the mutations in the KIAA2022 gene]. / Epilepsiya i drugie fenotipicheskie osobennosti X-stseplennoi intellektual'noi nedostatochnosti, obuslovlennoi mutatsiyami gena KIAA2022.

OBJECTIVE: To study the literature data and a series of our cases regarding the epilepsy clinic, electroencephalographic changes and other phenotypic features in X-linked intellectual disability (ID) caused by KIAA2022 mutations. MATERIAL AND METHODS: We analyzed the anamnesis of the disease, using medical records from different Russian medical organizations, as well as the results of the genealogical anamnesis, clinical, genetic, electroencephalographic (EEG) and neuroimaging (brain MRI ) examinations of 7 patients (5 girls and 2 boys aged 5 to 13 years) with a confirmed diagnosis of X-linked ID caused by KIAA2022 mutations, in whom the clinical picture of the underlying disease was combined with epilepsy. RESULTS: The main common phenotypic features of patients with X-linked ID caused by the KIAA2022 mutations are mental retardation, lack of phrasal speech, motor developmental delay, and dysmorphism. The prominent epilepsy characteristics are myoclonic, atonic seizures with nods, flinches, body propulsions, atypical absences, and diffuse discharges «spike-polyspike-slow wave¼ on the EEG. No pathognomonic brain changes were found on MRI. In many cases, the absence of the effect of antiepileptic therapy was noted. CONCLUSION: The described cases of X-linked ID in combination with epilepsy show that this disease can be seen in males as well as in females, epilepsy is rather characterized by generalized seizures, and it is pharmacoresistant in many cases. There is a need for further research on this rare genetic syndrome.

[Experience in the management of patients with genetic epilepsies and epileptic encephalopathies in the outpatient practice]. / Opyt vedeniya patsientov s geneticheskimi epilepsiyami i epilepticheskimi entsefalopatiyami v ambulatornoi praktike.

OBJECTIVE: To describe the spectrum of being detected gene mutations in patients with epilepsy in clinical practice of neurologists specializing in epilepsy with an analysis of diagnosed epileptic syndromes, the characteristics of seizures, the timing of a genetic diagnosis, options and treatment effectiveness. PATIENTS AND METHODS: The study included 100 patients (40 boys, 60 girls) with epilepsy and/or epileptic encephalopathy and a gene mutation identified. The average age was 6.9±5.1 years. Through remote access, epilepsy specialists filled out a specially designed unified table containing information from outpatient case history. RESULTS AND DISCUSSION: There are patients with a wide range of gene mutations, the leading of which is a mutation in the SCN1A gene (15%). The main method (85%) of detection remains the sequencing of the last generation in the «Hereditary Epilepsy¼ panel. Years pass from the onset of the disease to the genetic diagnosis (Me - 3 years). In most cases, patients with severe (52% have epileptic encephalopathy, 88% have developmental disorders) and pharmacoresistant (mean amount of anti-epileptic drugs - 3.8±2.2, multitherapy - 70%) syndromes have undergone genetic testing. In the treatment of these patients epileptologists are increasingly (52%) use alternative methods: steroids, ketogenic diet and others. The absence of seizures was observed only in 46% of patients. CONCLUSION: Thus, in the outpatient practice of epileptologists, patients with a wide range of gene mutations are found. As a rule, these are patients with severe, therapy-resistant epileptic syndromes.

[The impact of spinopelvic parameters on the rate of adjacent segment instability after short-segment spinal fusion]. / Vliianie pozvonochno-tazovykh parametrov na chastotu razvitiia nestabil'nosti smezhnogo segmenta pri monosegmentarnoi fiksatsii v poiasnichnom otdele.

AIM: The objective of this study is to determine the impact of postoperative spinopelvic parameters on the development of adjacent segment instability after single-level lumbar fusion. MATERIAL AND METHODS: A total of 116 patients with degenerative spine conditions after lumbar fusion were enrolled in this study and subdivided into two groups. Group I consisted of 24 patients with signs of adjacent segment instability; Group II included 92 patients without signs of instability. The minimal follow-up period was 24 months. RESULTS: The mean postoperative lumbar lordotic (LL) angle in both groups was within the normal range (-60.9±12); no statistically significant intergroup differences were revealed (56.6±12.1 and 58.4±11.2 for Groups I and II, respectively; p=0.314). In Group I patients, the mean pelvic incidence (PI) angle differed significantly from the mean PI values in Group II patients (70.4±7.6 and 53.2±8.4, respectively; p=0.006) and from the normal PI values (51.9±10). Therefore, the mean difference between PI and LL (PI-LL) angles in the Group I patients was significantly higher than in Group II (16.2±5.4 and 4.8±8.6, respectively; p=0.004). Significant PI-LL mismatch (PI-LL ≥10°) was observed in 22 (91.7%) patients in Group I and in 11 (11.95%) patients in Group II. According to regression analysis data, the PI-LL mismatch was identified as a risk factor for adjacent segment instability; the odds ratio =4.2; 95% confidence interval 1.46-12.25; and p=0.007. CONCLUSION: Patients with the high PI value and low LL value have a significantly higher risk of adjacent segment instability after short-segment spinal fusion.

[Diagnosis and interventional treatment of pain syndromes after surgery for degenerative lumbar spine diseases]. / Diagnostika i interventsionnoe lechenie bolevykh sindromov posle operativnykh vmeshatel'stv po povodu degenerativno-distroficheskikh zabolevanii poiasnichnogo otdela pozvonochnika.

Postoperative pain accompanies up to 20% of interventions for degenerative spine diseases (DSDs). The epidemiologic data are contradictory; clinical and radiological diagnostics is often low efficient; capabilities of interventional diagnosis and treatment techniques are poorly understood. PURPOSE: The study purpose was to investigate the structure of pain syndromes after surgery for DSDs of the lumbar spine, based on complex diagnostics, as well as to evaluate the capabilities of interventional treatment. MATERIAL AND METHODS: We examined 310 patients with postoperative pain syndromes. Patients with obvious indications for repeated surgery were excluded from the analysis; the remaining patients underwent selective diagnostic blockades followed by interventional (puncture) treatment. A positive outcome was defined as a reduction in pain by 50% on the numerical rating scale (NRS-11), by 20% in the Oswestry index (ODI), and by 8 points in the sciatica bothersomeness index (SBI), with the effect lasting for 12 months. Predictive factors for the risk of pain syndromes were analyzed. RESULTS: Out of 310 patients, 162 (52.6%) patients had no obvious indications for surgery. Radicular pain was detected in 56 (18.6%) of 310 patients; the positive treatment outcome was achieved in 38 (67.86%) of 56 patients. Facet pain was present in 29 (9.35%) patients; the positive treatment outcome was achieved in 23 (79.31%) patients. Discogenic pain was found in 12 (3.87%) patients; the positive treatment outcome was achieved in 5 (41.63%) patients. sacroiliac joint (SIJ) pain was present in 42 (13.55%) patients; the positive treatment outcome was achieved in 36 (85.71%) patients. Myofascial and competing pain was detected in 12 (3.87%) patients; the causes were not identified in 11 (3.55%) cases. The main risk factors were sagittal balance parameters. CONCLUSION: Complex diagnostics revealed postoperative pain not associated with surgical causes in 52.6% of cases; the origin of pain was identified in 49.95% of cases. Interventional treatment was effective in 64.81% of cases; failed back surgery syndrome was diagnosed in 16.13% of patients.

[Age-related transformation of infantile spasms into drug-resistant forms of epilepsy].

An objective of this paper was to study treatment outcomes in patients with infantile spasms (IS) in the evolutionary aspects and from the point of view of drug resistance. We have treated 124 children with IS. Standard therapy included hormones synacthen depot (0.03-0.05 mg/kg) or dexasone (0.3-0.5 mg.kg). The drug regimen was as follows: 10 injections daily initially, following with 5 injections every other day, then 5 injections every two days, plus a valproate in dose 30-40 mg/kg/day. Seventy-three patients were followed up: 21 patients continued to manifest spasms despite the use of several adequate and well-tolerated antiepileptic drugs (AEDs) as a monotherapy, as well as a combination therapy. The patients were divided into 2 groups. In Group 1 (n=12) the remission period was from 0 to 4 months, while in Group 2 (n=9) remission lasted from 7 months up to 4 years. The patients demonstrated all types of IS and modified hypsarrhythmia. In Group 1, the patients were relieved of IS in 66% of the cases and the EEGs showed no epileptic activity in 58%. 83% of the patients then experienced a return of IS and 50% of the patients had hypsarrhythmia. Adding 2 and 3 AEDs to the treatment did not bring any change. A transformation of hypsarrhythmia was observed as the patients grew older. All patients in Group 2 had a cessation of IS, and 77% of the patients had no hypsarrhythmia. In one third of the cases, the IS returned while the other two thirds had focal seizures. EEGs predominantly demonstrated the focal epileptic activity. Adding 2 AEDs had positive effect on seizures in 66% of the cases and EEGs improved in 88% of the cases. Adding 3 AEDs had no effect on the course of the condition in one third of the cases, and in most cases the EEGs did not change. In Group 1, the condition was of drug-resistant nature, and in Group 2 we saw a remission in the condition. After the hormone regimen was completed, a relief of the epileptic activity was achieved for most patients in Group 2. In Group 1, the recurrence of IS was in correlation with the persistence of hypsarrhythmia. We have not found any obvious benefit from the use of any one AED or a combination of AEDs. 78% of the patients in Group 1 demonstrated further persistence of IS for several years. In Group 2, the return of seizures and the EEGs were age-dependent and the treatment had a more positive outcome.

[The influence of drainage and plasty of the epidural space on the results of lumbar diskectomies].

The nearest and long-term results of microdiskectomies were analyzed in 185 patients. The methods of decreasing the postoperative epidural fibrosis - drainage of the postoperative wound, plasty of the epidural space with fat or different artificial materials were used. No statistically reliable dependence on using the methods concerning the dynamics of the neurological status, pain syndrome and quality of life was noted.

Platinum-containing hyper-cross-linked polystyrene as a modifier-free selective catalyst for L-sorbose oxidation.

Impregnation of hyper-cross-linked polystyrene (HPS) with tetrahydrofuran (THF) or methanol (ML) solutions containing platinic acid results in the formation of Pt(II) complexes within the nanocavities of HPS. Subsequent reduction of the complexes by H2 yields stable Pt nanoparticles with a mean diameter of 1.3 nm in THF and 1.4 nm in ML. The highest selectivity (98% at 100% conversion) measured during the catalytic oxidation of L-sorbose in water is obtained with the HPS-Pt-THF complex prior to H2 reduction. During an induction period of about 100 min, L-sorbose conversion is negligible while catalytic species develop in situ. The structure of the catalyst isolated after the induction period is analyzed by X-ray diffraction, transmission electron microscopy, and X-ray photoelectron spectroscopy. Electron micrographs reveal a broad distribution of Pt nanoparticles, 71% of which measure less than or equal to 2.0 nm in diameter. These nanoparticles are most likely responsible for the high catalytic activity and selectivity observed. The formation of nanoparticles measuring up to 5.9 nm in diameter is attributed to the facilitated intercavity transport and aggregation of smaller nanoparticles in swollen HPS. The catalytic properties of these novel Pt nanoparticles are highly robust, remaining stable even after 15 repeated uses.

An expert system based on the principle of the functional asymmetry of the brain.

A general concept for automating the secondary processing of data is proposed. Starting information is accumulated in a database. During processing, a textual description is generated for each object, and all further manipulations consists of transformations of the database. The use of this approach allows different types of information to be accumulated and analyzed efficiently using a single scheme.

[A comparison of the efficiency of stimulation of the right and left lateral hypothalamus during a self-stimulation reaction]. / Sopostavlenie éffektivnosti razdrazheniia pravogo i levogo lateral'nogo gipotalamusa pri reaktsii samostimuliatsii.

Higher rate of the right-side self-stimulation of the lateral hypothalamus than of the left-side was found in freely behaving (30 +/- 8 versus 16 +/- 5 pressings per minute) and fixed rabbits (15 +/- 3 versus 10 +/- 2 pressings per minute, accordingly) under conditions of optimal current (current strength was leveled about the thresholds of food motivational reactions).

Effect of stimulation of the lateral hypothalamus on the correlation of neuron spike activity in the rabbit neocortex.

Cross-correlation and autocorrelation histograms were constructed with the aim of studying correlated spike activity of neurons in the visual and sensorimotor regions of both hemispheres of the rabbit brain before and after stimulation of the right and left lateral hypothalamic regions, which generates food-motivated responses. Stimulation of the left hypothalamus produced larger rearrangements in correlated neuron firing than stimulation of the right hypothalamus. Stimulation of the left hypothalamus, unlike that of the right hypothalamus, was followed by significant increases in the numbers of pairs of left hemisphere neocortical neurons with linked activity, and also induced the sequential firing of neurons in a particular defined order: sensorimotor cortex cells fired first, followed by visual cortex neurons after delays of up to 120 msec. It is concluded that cortical interhemisphere asymmetry in conditions of hunger is associated with nonuniform functioning of the right and left lateral hypothalamic regions.

[An expert system based on the principle of brain functional asymmetry]. / Ekspertnaia sistema, osnovannaia na printsipe funktsional'noi asimmetrii mozga.

The generalized concept is proposed for automation of secondary data processing. Initial information is stored in the knowledge base. During processing the verbal description is generated for each object. All further operations are reduced to the transformation of the textual data. This approach makes it possible to accumulate information of diverse types and efficiently analyze it according to the universal scheme.

Real-time distribution of linked spike activity in cortical neurons during learning in the cat.

Analysis of the distribution of linked spike activity showed changes occurring within the structure of interneuron functional connections during learning. In an electric shock defensive reflex, concentration of linked spikes from cat motor cortex neurons was observed on signal presentation, while in a conditioned food-procuring reflex to time, this was confined to the moment at which reinforcement was provided. This can be regarded as the appearance of a reflex at the level of interneuron interactions. This conclusion is supported by the observation that in well-trained animals, concentrations of linked spikes could be seen at the place of the conditioned reflex response, even in the absence of defensive and food-procuring movements.

[The effect of stimulation of the lateral hypothalamus on the spike trains of the rabbit neocortical neurons]. / Vliianie stimuliatsii lateral'nogo gipotalamusa na sopriazhennost' impul'satsii neironov neokorteksa krolikov.

Cross- and autocorrelation histograms of the impulse activity of the visual and sensorimotor cortical neurons were plotted before and after stimulation of the right (RH) and left lateral hypothalamus (LH) which provoked food motivation reactions. Reorganization in correlated activity of neocortical neurons was more expressed after the LH than the RH stimulation. Only after the LH stimulation the number of neuronal pairs with co-related activity in the left hemisphere increased by 41% and some order of priority appeared in the neuronal discharges. The visual neurons discharged after the sensorimotor ones with delays up to 120 ms. The conclusion was drawn that cortical interhemispheric asymmetry of electrical activity during hunger was associated with unequal operation of the right and left lateral hypothalamus.

Influence of stimulation of the medial hypothalamus on the interaction of neurons of the rabbit neocortex.

The interaction of neurons of the visual and sensory motor areas of the neocortex of the rabbit before and after stimulation of some medial nuclei of the hypothalamus was investigated by plotting cross- and autocorrelation histograms. Stimulation through bipolar electrodes using bursts of biphasic pulses at a frequency of 100 Hz, current strength 50-200 microA, led to the appearance in freely behaving rabbits of the reaction of avoidance of the place of stimulation. Following stimulation, as compared with resting wakefulness, the number of pairs of neurons functioning in correlation increased to 45%; at the same time, discharges of neurons of the sensory motor area ran ahead of discharges of visual neurons in the pairs up to 120 msec; the periodicity of the coupled discharges was mainly in the theta frequency range. A conclusion regarding the reflection of defense motivation in certain indices of the interaction of the cortical cells in the presence of a tonic conditioned reflex is reached on the basis of a comparison of the interaction of neurons following stimulation of the medial hypothalamus and the midbrain reticular formation, in the intersignal periods during the development of a defense conditioned reflex as well.

[The distribution in real time of the spike train activity in the cortical neurons of cats during learning]. / Raspredelenie v real'nom vremeni sopriazhennoi impul'satsii neironov kory mozga koshek pri obuchenii.

Analysis of the dynamics of distribution of coincident impulses in pairs of neurons revealed modifications in the structure of neuronal interaction in the process of learning. In electrodefensive sound conditioning coincident paired impulses of the neurons in cat's motor cortex were timed to the moment of the conditioned stimulus presentation. In food-procuring time conditioning coincident impulses were concentrated around the moment of the reinforcement administration. The described temporal pattern of coincident impulse distribution is considered as a manifestation of a conditioned reaction at the level of neuronal interaction. This conclusion is confirmed by the finding that coincident impulses may be grouped within the period of expected conditioned reaction even in the absence of the defensive or food-procuring movement in well-trained cats.

[The effect of stimulation of the medial hypothalamus on the interaction of rabbit neocortical neurons]. / Vliianie stimuliatsii medial'nogo gipotalamusa na vzaimodeistvie neironov neokorteksa krolikov.

By means of histograms of cross- and autocorrelation plotting the interaction of visual and sensorimotor neocortex neurons was studied before and after stimulation of some medial hypothalamic nucleus. The stimulation was provided by packages of bipolar impulses with frequency of 100 Hz and current value of 50-200 mcA from the bipolar electrodes and resulted in appearance of avoidance reactions to stimulation place at rabbits' free behavior. After stimulation as compared with calm wakefulness the number of pairs of neurons with correlated activity was increased by 45%, the discharges of sensorimotor neurons forestalled the discharges of the visual ones for up to 120 ms, the frequency of periodicity of correlated discharges was basically in the theta-range. By means of comparison the interaction of neurons after stimulation of medial hypothalamus and midbrain reticular formation and in intersignal interval during defensive conditioning the conclusion was made about manifestation of defensive motivation in definite indices of cortical neurons interaction during tonic conditioned reflex.