[Early infantile epileptic encephalopathy type 14: three cases of epilepsy in infancy with migrating focal seizures due to KCNT1 mutations]. / Rannyaya mladencheskaya epilepticheskaya entsefalopatiya 14-go tipa: tri sluchaya epilepsii mladenchestva s migriruyushchimi fokal'nymi pristupami, obuslovlennymi mutatsiyami gena KCNT1.

OBJECTIVE: To study clinical and neurophysiological data of early infantile epileptic encephalopathy type 14 caused by KCNT1 mutations. MATERIAL AND METHODS: 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). RESULTS AND CONCLUSION: 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 (chr9:138656907C>T) with amino acid substitution Arg356Trp. T.V. has the previously described mutation in chromosome 9: 138651532G>A with amino acid substitution Gly288Ser (OMIM: 608167.0010). M.U. has the previously unknown mutation in exon 15 (chr9:138660712A>G) 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.

[Familial temporal lobe epilepsy 5 with vestibular seizures (a case report)]. / Semeinaia visochnaia épilepsiia 5-go tipa s vestibuliarnymi pristupami (klinicheskii sluchai).

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.

[The criteria of early detection of biotinidase deficiency-based epilepsy].

OBJECTIVE: An analysis of clinical and paraclinical symptomatology of three cases of infant epilepsy due to biotinidase deficiency is presented. MATERIAL AND METHODS: The diagnosis took 4 months in the first case and 1 day in the last one. RESULTS AND CONCLUSION: It is emphasized that early diagnosisbased on knowing the reference signs of this inherited metabolic disease provides an opportunity to avoid patient's disability or death.

[Non-convulsive status epilepticus with a phenomenon of transitory amnesia].

This article describes clinical cases of 13 year old boy with two non-convulsive status epilepticus which had transient epileptic amnesia as a clinical implication. Status EEG pattern in form of diffuse epileptic activity "benign epileptiform discharge of childhood" type was registered.

[Intensive care of traumatic brain injury in children].

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.

[Thrombocytosis after splenectomy in children].

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 assessment of left ventricular diastolic function in patients with systemic scleroderma by radionuclide ventriculography]. / Otsenka diastolicheskoi funktsii levogo zheludochka serdtsa u bol'nykh sistemnoi sklerodermiei metodom radionuklidnoi ventrikulografii.

To assess left ventricular (LV) diastolic function in scleroderma systematica (SS) with regard to SS course and skin lesion degree, a total of 24 SS patients were examined versus control subjects. Though cardiac symptoms manifested clinically only in 8 patients, parameters of LV diastolic function underwent changes in the majority of the examinees: the time to attaining maximal filling velocity increased, contribution of the first diastolic third to LV filling diminished, hemodynamic significance of the left atrial systole grew. More pronounced dysfunction of the myocardium occurred in patients with diffuse skin lesions, acute and subacute disease who also appeared to have reduced LV ejection fraction. The conclusion is made on frequent subclinical pattern of myocardial involvement in SS patients which runs primarily as LV diastolic dysfunction. Systolic disturbance emerge later or in more active forms.

[Magnetic resonance tomography and magnetic resonance angiography in the clinical diagnosis of extra- and intracranial arterial pathology in patients with arterial hypertensions]. / Klinicheskoe primenenie magnitno-rezonansnoi tomografii i magnitno-rezonansnoi angiografii v diagnostike porazhenii ékstra- i intrakranialnykh arterii u bolnykh s arterialnymi gipertoniiami.

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.

[Night sleep in temporal-lobe epilepsy in children]. / Nochnoi son pri visochnoi épilepsii u detei.

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.

[Evaluation of the effect of Isoptin-Retard on central hemodynamics and parameters of diastolic ventricular function in patients with hypertension]. / Otsenka vliianiia izoptina-retarda na tsentral'nuiu gemodinamiku i pokazateli diastolicheskoi funktsii zheludochka u bol'nykh gipertonicheskoi bolezn'iu.

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.

[Effect of captopril on myocardial ischemia, intracardiac hemodynamics and regional left-ventricular contractility in patients with stenocardia]. / Vliianie kaptoprila na ishemiiu miokarda, vnutriserdechnuiu hemo- dinamiku i regionarnuiu sokratimost' levogo zheludochka u bol'nykh so stenokardiei.

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.

[Clinical and prognostic value of myocardial scintigraphy using technetium Tc 99m pyrophosphate in patients with unstable stenocardia]. / Klinicheskoe i prognosticheskoe znachenie stsintigrafii miokarda s 99m Tc-pirofosfatom u bol'nykh s nestabil'noi stenokardiei.

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.

[Anti-anginal effects of calcium antagonists and intra-cardiac hemodynamics]. / Antianginal'nyi éffekt antagonistov kal'tsiia i vnutriserdechnaia gemodinamika.

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.

[Characteristics of 99m Tc-pyrophosphate images in the myocardium of aged patients]. / Osobennosti vkliucheniia 99mTc-pirofosfata v miokard u bol'nykh starcheskogo vozrasta.

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.

[Calcium antagonists and the regional contractility of the left ventricle in stenocardia patients]. / Antagonisty kal'tsiia i regional'naia sokratimost' levogo zheludochka u bol'nykh stenokardiei.

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.

Radioimmunoimaging of lung vessels: an approach using indium-111-labeled monoclonal antibody to angiotensin-converting enzyme.

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.