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Objectives. To study the clinical and electroencephalographic characteristics of early infantile epileptic encephalopathy (EIEE) type 14, due to mutations in the KCNT1 gene. Materials and methods. Over the period 2017–2019, three unrelated girls (M.V. aged three years three months, T.V. aged nine months, and M.U. aged five months) with the clinical picture of infantile epilepsy with migrating focal seizures (IEMFS) were investigated and mutations in the KCNT1 gene were identified. New-generation DNA sequencing (Inherited Epilepsy panel) was run on an Illumina NextSeq 500 platform (USA). Video EEG monitoring was with an Encephalan Video system based on an Encephalan-RM RM-EEG-19/26 instrument (Medikom MTD, Russia). Results and conclusions. M.V. showed a previously undescribed mutation in exon 12 of the KCNT1 gene (chr9:138656907C>T) with amino acid substitution Arg356Trp. T.V. had a known mutation in chromosome 9, 138651532G>A with amino acid substitution of glycine by serine as position 288, i.e., Gly288Ser (OMIM: 608167.0010). M.U. showed a previously undescribed heterozygous mutation in exon 15 of the KCTN1 gene (chr9:138660712A>G), leading to an amino acid substitution in position 480 (Asp480Gly). In M.V., the onset of EIEE was at age four months with hypomotor dialeptic and tonic versive seizures. Epilepsy in T.V. started at age 4.5 months with hypomotor seizures with ophthalmoclonia and facial hyperemia. In M.V., neonatal convulsions were seen with bilateral tonic-clinic seizures and cyanosis, and subsequent development of status epilepticus with alternating hemiconvulsions. All girls went on to develop seizures of multiregional genesis to the level of migrating status epilepticus with the typical electroclinical picture of IEMFS. Thus, these findings lead to the conclusion that the KCNT1 gene may be the main gene determining the development of EIEE.

Introduction: Early infantile epileptic encephalopathy (EIEE) is a group of monogenic epilepsies which are caused by mutations in more than 70 genes. Material and methods: The data of a long-term dynamic EEG observation of a girl with EIEE9 (OMIM 300088) caused by a mutation in the PCDH19 gene (OMIM 300460) are presented. Results: Correct etiological diagnosis of the hereditary disease was established only at the age of 14 years. Epilepsy debuted at the age of 8 months as a series of one minute long generalized tonic convulsions with myoclonia in the left arm. After further examination the symptoms were mistakenly regarded as viral encephalitis. Subsequently, clusters of convulsive seizures provoked by febrile states periodically were occurring several times per year irrespective of the type and amount of anticonvulsants taken. Despite the fact, that no significant structural changes in the brain we found during neuroimaging, pharmacoresistant focal epilepsy gradually developed. At the age of 14 years, as part of a pre-surgical examination for two days, the complete abolition of anticonvulsants and the implantation of subdural electrodes were performed. Focal motor seizures with a transition to bilateral tonic-clonic seizures were recorded, during which the primary generation of epileptic activity was localized in the left temporal lobe. А thorough examination with a clarification of the monogenic origin of the disease made it possible to avoid undue surgery on the brain. Discussion: The presented observation is a clear example of why a timely genetic examination is important for establishing correct diagnosis, adequate selection of anticonvulsants and a making a right decision on the possibility of surgical treatment.

The clinical and neuropsychological analysis of atypical variant of rolandic epilepsy, usually benign, is presented in the paper. The patient was examined in dynamics from the age of 7 to the age of 11. The peculiar features of this observation were the following: frequent pharmacoresistant focal seisures, cognitive impairments in the form of disorders of attention, memory and manual dyspraxia, as well as protracted “rolandic” complexes on EEG.

To study clinical and neurophysiological data of early infantile epileptic encephalopathy type 14 caused by KCNT1 mutations.For the period 2017 to 2019, 3 non-relative girls with clinical characteristics of epilepsy of infancy with migrating focal seizures (EIMFS) and mutations in the KCNT1 gene are identified and studied. DNA sequencing was performed using the Hereditary epilepsy panel (Next Generation Sequencing on platform IlluminaNextSeq 500, USA). Dynamical video-EEG monitoring was done with "Encephalan-Video" RM-19/26 ("Medicom MTD", Russia).De novo KCNT1 mutations are identified and studied in three unrelated Russian girls: M.V., 3 years and 3 month old, T.V., 9 month old and M.A., 5 month old. M.V. has the previously unknown mutation in exon 12 (chr9:138656907CT) with amino acid substitution Arg356Trp. T.V. has the previously described mutation in chromosome 9: 138651532GA with amino acid substitution Gly288Ser (OMIM: 608167.0010). M.U. has the previously unknown mutation in exon 15 (chr9:138660712AG) with amino acid substitution Asp480Gly. M.V. has seizure onset at the age of 4 month with behavioral arrest seizures and tonic versive seizures. T.V. developed seizures at 4,5 month in the manner of behavior arrest and ophthalmo-clonic seizures with hyperemia of face. M.U. has neonatal seizures with bilateral tonic-clonic seizures, cyanosis and further development of status epilepticus of alternating hemiconvulsive seizures. Further all the girls develop polymorphic seizures of multiregional genesis up to migrating status epilepticus with typical electro-clinical pattern of EIMFS. Therefore, KCNT1 is likely to be a major gene causing this rare and severe epileptic syndrome.Цель исследования. Изучение клинико-электроэнцефалографических особенностей ранней младенческой эпилептической энцефалопатии (РМЭЭ) 14-го типа, обусловленной мутациями гена KCNT1. Материал и методы. За период 2017—2019 гг. обследованы 3 неродственные девочки (М.В. — 3 года и 3 мес, Т.В. — 9 мес и M.У. — 5 мес) с клинической картиной эпилепсии младенчества с мигрирующими фокальными приступами (ЭММФП) и идентифицированными мутациями в гене KCNT1. Секвенирование ДНК нового поколения (панель Наследственные эпилепсии) осуществлялось на платформе IlluminaNextSeq 500 (США). Мониторинг видео-ЭЭГ проводился посредством системы Энцефалан-Видео на базе РМ-ЭЭГ-19/26 ЭНЦЕФАЛАН-РМ (НПКФ «Медиком МТД», Россия). Результаты и заключение. У М.В. выявлена ранее не описанная мутация в 12-м экзоне гена KCNT1 (chr9:138656907CT) с аминокислотной заменой Arg356Trp. У Т.В. определена ранее известная мутация в 9 хромосоме 138651532GA с аминокислотной заменой глицина на серин в 288 позиции — Gly288Ser (OMIM: 608167.0010). У М.У. обнаружена ранее не описанная гетерозиготная мутация в 15-м экзоне гена KCNT1 (chr9:138660712AG), приводящая к аминокислотной замене в 480-й позиции белка (Asp480Gly). У М.В. дебют РМЭЭ был отмечен в возрасте 4 мес с гипомоторных диалептических и тонических версивных приступов. Эпилепсия у Т.В. дебютировала в возрасте 4,5 мес с гипомоторных приступов с офтальмоклониями и гиперемией лица. У М.У. отмечались неонатальные судороги с билатеральными тонико-клоническими приступами, цианозом, с последующим развитием эпилептического статуса альтернирующих гемиконвульсий. В дальнейшем у всех девочек развивались полиморфные приступы мультирегионального генеза вплоть до мигрирующего эпилептического статуса с характерной электро-клинической картиной ЭММФП. Таким образом, сделан вывод, что ген KCNT1 является, возможно, основным геном, детерминирующим развитие РМЭЭ.

The specific features of epilepsy are analyzed in three siblings with biotinidase deficiency. The first sibling aged 10 months died in status epilepticus. The second baby was diagnosed with the disease at the age of 5 months. In the third sibling, pathogenetic treatment was started at birth. Emphasis is laid on the importance of early diagnosis and prompt therapy with biotin.

A clinical case of familial temporal epilepsy type 5 (OMIM 614417) with onset at the age of 14 years is described for the first time in the domestic literature. The leading manifestations of the disease were focal seizures of systemic vertigo, accompanied by vestibular ataxia and, sometimes, vomiting. Cognitive and emotional disturbances were observed as well. On the EEG of wakefulness and sleep, a non-expressed epileptiform activity was detected in the left parietotemporal and frontotemporal zone. Neuroimaging did not show any significant changes. Only a molecular genetic study that identified CPA6 gene mutation made it possible to establish the accurate diagnosis.Впервые в отечественной литературе представлен клинический случай семейной височной эпилепсии 5-го типа (OMIM 614417), дебютировавшей у пациентки в возрасте 14 лет. Клиническая картина заболевания характеризовалась приступами системного головокружения, сопровождавшимися вестибулярной атаксией, иногда рвотой, а также признаками когнитивной и эмоциональной дисфункции. По данным ЭЭГ бодрствования и сна выявлялась невыраженная эпилептиформная активность в левой теменно-височной и лобно-височной зонах. При нейровизуализации значимых изменений не определялось. Точный диагноз был установлен при молекулярно-генетическом исследовании с обнаружением мутации гена СРА6.

Questioning on sleep disturbances and polygraphic investigations of sleep and active state in 31 children with temporal epilepsy has been carried out. According to literature available and original observations, the novel classification of sleep disturbances in children is offered. Sleep disturbances are divided into permanent and paroxysmal. Paroxysms are divided into typical hypnic (non-epileptic), sleep-related "border" paroxysms and typical sleep-related epileptic attacks.

Traumatic brain injury among other injuries of human body reaches up to 30-50% and, according to the WHO, it grows by 2%. Severe traumatic brain injury (such as severe brain contusion, epidural, subdural and intracerebral hematoma, intracerebral hygroma, diffuse axonal injury) in the structure of general trauma amounts 4-20%. The prognosis of traumatic brain injury mainly depends on the timeliness of the first aid. The therapeutic measures usually begin at the place of the accident or in the ambulance vehicle (hence the clear role of the specialist team). It is advised for children with severe traumatic brain injury to be directed to specialized neurosurgical or trauma hospitals, where it is possible to provide them with adequate medical care. This work is dedicated to the enhancement of the intensive care quality during severe traumatic brain injury in children of Chuvash Republic, by the means of integrated patient assessment.

A comparative analysis of certain hematological indices was made in 50 children with traumatic injuries of the spleen. Splenectomy was fulfilled in 29 patients, organ-sparing treatment in 21 patients. There were no lethal outcomes. Five children during laparotomy were found to have an accessory spleen. In 7 (24.1%) patients there was thrombocytosis from 3-6 days after splenectomy, coming to its maximum in 10-12 days. After organ-sparing treatment and in children with an accessory spleen after splenectomy no thrombocytosis was observed in the postoperative period.

The authors analyze diagnostic potentialities of magnetic resonance (MR) angiography of the extra- and intracranial arteries in healthy volunteers and patients with arterial hypertension of various origins and course. Fifteen healthy subjects aged 18 to 40 and 33 patients with arterial hypertension were examined; 13 of these patients presented with essential hypertension, eleven with that combined with extracranial arteries atherosclerosis, and nine with nonspecific aortoartheritic. The most informative images were those of extra- and intracranial arteries in three-dimensional reconstruction making use of programs with a decreased magnetization vector angle and a short TR period when the vessel was characterized by a high intensity of the signal against the background of low-intensive adjacent tissues. MR angiography provides diagnostically reliable information on the status of extra- and intracranial arteries, permits imaging of vascular stenoses and occlusions, as well as of aneurysms and arteriovenous malformations. Analysis of MR angiographic and tomographic data permits a sufficiently accurate assessment of the relationships between MR tomographic picture of the brain and changes in extra- and intracranial arteries. MR angiography extends the potentialities of other MR tomographic methods in assessment of changes in small vessels and helps in a number of cases reduce the number of invasive interventions in examination of a patient.

Polygraphy of night sleep performed in 31 children with temporal epilepsy showed enhanced nonspecific mesolimbic activation, probably of compensatory nature, in patients with common partial fits or complex partial fits. In wakeful patients with complex partial fits there were signs of growing influence of synchronizing inactivating non-specific structures.

A short treatment course (2-3 weeks) of calcium antagonist isoptin-retard has been tried in 20 patients with stable essential hypertension stage II-III. The treatment achieved: clinical response in the majority of the patients in the presence of minor prolongation of the atrioventricular conduction, a clear tendency to reduction of systolic, mean arterial and resting diastolic pressures. Stroke volume increased both at rest and under loading, peripheral resistance of the vessels diminished, maximum filling rate for the left ventricle increased, its peak was reached more rapidly, hemodynamic contribution of the first third diastole to left ventricular filling rose against less contribution of the left atrial systole. Thus, it is shown that isoptin-retard in a mean dose 420 mg/day demonstrates hypotensive activity and beneficial hemodynamic effects without pronounced increase in atrial-ventricular conduction in hypertensive subjects with the disease stage II-III.

Technetium-99m pertechnetate equilibrium ventriculography was used to evaluate the effects of captopril in a single dose of 50 mg on the changes in ST segment depression during the identical bicycle ergometer exercise, as well as on systemic and regional hemodynamic parameters in 10 patients (mean age 52 years) with Functional Classes II-III exercise-induced angina pectoris. During exercise performed 45 and 90 minutes after captopril, ST segment depression decreased by 30 +/- 0 (p less than 0.05), and 32 +/- 10% (p less than 0.02), respectively as compared to baseline ST segment displacement. Following 90 minutes after the drug administration, end-systolic volume reduced both at rest and during exercise, resting stroke volume increased from 71 +/- 4 to 76 +/- 4 ml (p less than 0.01), whereas exercise stroke volume rose from 69 +/- 3 to 74 +/- 3 ml (p less than 0.03); with the drug, ejection fraction showed a 5% increase (p less than 0.02) at rest and a 4% increase (p less than 0.02) on exercise. Thus, captopril had a beneficial effect on the hemodynamics and reduced myocardial ischemia in patients with exercise induced angina.

The clinical and predictive value of 99mTc pyrophosphate myocardial scintigraphy was studied in 164 patients with various clinical courses of unstable angina pectoris. Some patients with the unstable anginal syndrome proceeding with prolonged pain attacks were shown to have irreversible myocardial lesions detectable by 99mTc pyrophosphate myocardial scintigraphy. However, the study indicated that the presence of small myocardial necrotic foci in this case was of insignificant predictive value.

The intracardiac hemodynamics was studied in 33 patients with exertional angina pectoris undergoing an acute drug test with verapamil (n-15) and nifedipine (n-18) by using radionuclide ventriculography both at rest and during exercise. All the patients were divided into 2 groups by the increase in exercise duration with the two drugs: 1) those who exhibited a marked antianginal effect and 2) those without it. At rest, the calcium antagonists enhanced ejection fraction in the two groups. Exercise ejection fraction also increased, but in a subgroup of patients who displayed no higher exercise tolerance with verapamil. Verapamil and nifedipine in Group 1 patients resulted in lower left ventricular end diastolic volume. It is suggested that the antianginal effect of calcium antagonists is to a certain degree associated with decreased afterload, as manifested by diminished left ventricular end systolic volume.

Myocardial scintigraphy with 99mTc-pyrophosphate is a widely used highly sensitive and specific method for the evaluation of patients with acute myocardial infarction (AMI) with optimum visualization within 24-72 h after the onset of chest pain. In some cases the so called doughnut-shaped 99mTc-pyrophosphate myocardial scintigrams may occur. As a rule patients with scintigraphic images of this type have a poor prognosis. Old-aged patients are characterized by peculiar features in the interpretation of 99mTc-pyrophosphate myocardial uptake. Findings of 4 patients aged 88 to 92 (2 patients with verified AMI and 2 CHD patients without AMI) with doughnut-shaped 99mTc-pyrophosphate myocardial scintigraphic images were analyzed. The authors present two case reports of aged patients with AMI and without it with this type of myocardial uptake and one case report of a 50-year old patient with vast anterior myocardial infarction with a poor prognosis and doughnut-shaped 99mTc-pyrophosphate myocardial scintigraphy. In old-aged patients the uptake of 99mTc-pyrophosphate in the myocardium may occur not only with but also without AMI as a result of increased calcification. These features should be taken into account while establishing correct diagnosis.

The overall and regional left ventricular ejection fraction (EF) was assessed by rest-exercise equilibrium radionuclide ventriculography in 33 patients (mean age 52.3 +/- 10.3 years) given a single dose of calcium-channel blockers (CCB). Of these, 18 patients were administered 20 mg of nifedipine and 15 patients received 80 mg of verapamil. According to the antianginal effects (AE) of nifedipine and verapamil at exercise all the patients were divided into 4 groups: 9 were on nifedipine, 10 on verapamil with AE (groups I and 3), 9 were on nifedipine, 5 on verapamil without AE (groups 2 and 4). After administration of a single dose of nifedipine and verapamil the overall rest EF increased in group I from 55.5 +/- 6.1 to 65.0 +/- 7.7%, in group 3, from 59.8 +/- 4.8 to 67.4 +/- 5.4%, in group 2, from 55.5 +/- 9.8 to 60.9 +/- 9.9%, and in group 4, from 54.8 +/- 5.4 to 59.6 +/- 4.5%. The exercise EF increased only in patients with AE of CCB (from 51.5 +/- 4.2 to 64.6 +/- 7.9%, group 1) and from 54.8 +/- 6.2 to 61.1 +/- 5.7%, group 4). In patients with AE of CCB (groups 1 and 3), the baseline values of the regional EF before drug administration decreased from rest to exercise in ischemic segments and that decrease ranged from 9 to 17%, while in patients of groups 2 and 4, from 1 to 8%. After administration of CCB insignificant improvement of the regional rest-exercise EF was recorded in groups 1 and 3 in the formerly ischemic segments.

A murine monoclonal antibody against human angiotensin-converting enzyme was radiolabeled with 111In via diethylenetriaminepentaacetic acid without substantial loss of antigen-binding capacity. This monoclonal antibody designated 9B9 cross-reacted with rat and monkey angiotensin-converting enzyme. Indium-111-labeled 9B9 selectively accumulated 10-20 times greater in the lung than in blood or other organs following intravenous administration in rats. Kinetics of lung accumulation and blood clearance were studied for 111In-9B9-antibody and compared to that of 125I-labeled 9B9 in rat. Highly specific accumulation of 111In-9B9-antibody in the lung of Macaca Rhesus monkeys after intravenous injection was monitored by gamma-imaging. Images of 111In-labeled antibody 9B9 biodistribution in monkey lung noticeably differ from the images of biodistribution of 99mTc-labeled albumin microspheres. This difference may provide information concerning the state of the endothelium of lung capillaries, which is different from the blood flow characteristics determined with routine microsphere technique.

Parametric or the so-called functional images found an application in modern nuclear cardiology for the processing of radiodiagnostic data, particularly those of radionuclide ventriculography. The process of obtaining parametric images incorporates the transformation of digital scintigrams using arithmetic or more complicated mathematical procedures. As a result of it valuable radiodiagnostic parameters on the point of spatious resolution of the digital scintigrams are singled out from the whole complex of scintigraphic information. This method of scintigraphic data processing with obtained parametric images is recommended for a wider use in the other areas of nuclear medicine too.