[A case of a pathological variant of the PRRT2 gene in twins with paroxysmal kinesiogenic dyskinesia]. / Sluchai patologicheskogo varianta gena PRRT2 u bliznetsov s paroksizmal'noi kineziogennoi diskineziei.

Paroxysmal dyskinesia is a clinically and etiologically polymorphic group of diseases, the main clinical manifestation of which is transient attacks of extrapyramidal movements, with different conditions of occurrence. Paroxysmal kinesigenic dyskinesia belongs to the group of primary dyskinesias, which also includes paroxysmal non-kinesigenic dyskinesia and exercise-induced paroxysmal dyskinesia. The most common cause of paroxysmal kinesiogenic dyskinesia is mutations in the PRRT2 gene; in cases of non-kinesiogenic dyskinesia, a mutation in the MR1 gene is detected. The diagnosis of primary dyskinesias causes significant difficulty for clinicians due to the rarity of occurrence, as well as the large spectrum of conditions occurring with paroxysmal motor disorders in childhood. The article describes the clinical observation of 16-year-old twin brothers with transient attacks of dystonic, choreic and ballistic hyperkinesis that suddenly arose during movement. Patients were treated for tics and epilepsy for 12 years. Taking into account the clinical picture - transient attacks of hyperkinesis, their connection with movement, as well as data from video-electroencephalographic monitoring, a diagnosis of paroxysmal kinesiogenic dyskinesia was established, which in a further diagnostic search was confirmed by targeted sequencing of the pathological variant of the PRRT2 gene previously described in patients with kinesiogenic dyskinesia. The administration of carbamazepine, which is the drug of choice in the treatment of this category of patients, has achieved significant control over hyperkinesis in twins. Thus, molecular genetic diagnosis helps confirm the diagnosis of paroxysmal dyskinesias, but careful analysis of the clinical picture, considering the provoking factor, remains the basis of diagnosis.

[A longitudinal study of pediatric-onset multiple sclerosis in the Voronezh region]. / Prospektivnyi analiz klinicheskogo techeniya rasseyannogo skleroza s debyutom v detskom i podrostkovom vozraste v Voronezhskoi oblasti.

OBJECTIVE: To study the clinical course, the rate of progression and the results of the disease modifying treatment (DMT) in pediatric-onset multiple sclerosis (POMS) patients in the Voronezh region. MATERIAL AND METHODS: The clinical characteristics of the course of relapsing-remitting multiple sclerosis (MS) were analyzed among 51 POMS patients and 51 patients with the adult-onset MS (AOMS). The clinical course was assessed based on the Expanded Disability Status Scale (EDSS) score, the average annual frequency of exacerbations and the rate of disease progression before and during DMT. RESULTS: There were no statistically significant differences in EDSS scores 11 years after the onset of MS between the groups: POMS patients achieved moderate disability by the age of 25, and AOMS patients showed stabilization of their condition during DMT by the age of 36. During changing first-line drugs in patients with POMS, there was again an increase in disability with the transition of 25% of patients to the group with secondary progression of MS on average after 8 years of DMT. CONCLUSION: The onset of the disease in children and adolescents leads to a significant decrease in their quality of life and the deterioration of all activities throughout their lives. To prevent the progression of the disease it seems appropriate to transfer patients with POMS immediately to second-line DMT when signs of a suboptimal response to first line DMT appear, and in the case of a rapidly progressive course to start therapy with second-line drugs.

[Problems of brain protection in aortic arch operations].

33 patients (25 men and 8 women, aged 18 to 69 years, mean age 47 +/- 12.3 years), underwent ascending aorta and aortic arch replacement. During arch replacement the authors used the following brain protection methods: profound hypothermic circulatory arrest--in 4 (12.1%) patients, retrograde brain perfusion via superior vena cava--in 11 (33.3%), antegrade perfusion via brachycephalic vessels--in 18 (54.6%) patients. Pharmacological brain protection was applied in all cases as an addition to the listed techniques. 14 (45%) patients underwent partial aortic arch replacement; in 19 (57.6%) patients total aortic arch replacement was performed, including "elephant trunk" distal anastomosis in 4 cases. Hospital mortality rate in patients who underwent operations on the aortic arch was 18.1% (6 patients). Postoperative neurological disorders, such as transient dysfunction, were observed in 8 (24%) patients; cerebral strokes or intractable neurological disorders were not recorded. The choice of a brain protection method is determined by the extent of the operation and necessary circulation arrest time.

Eight years clinical experience with the replacement of the ascending aorta using composite xenopericardial conduit.

OBJECTIVE: The evaluation of early and late results after ascending aorta replacement with composite glutaraldehyde-treated xenopericardial valved conduit. METHODS: From December 1989 to May 1999 the ascending aorta was replaced with 148 composite xenopericardial conduits aorta in 145 patients. Biological valves were inserted in 28 conduits, mechanical valves - in 116. The age of 40 female (28%) and 105 male (72%) patients ranged from 10 to 60 years (mean, 38.7+/-12 years). The original diseases were: atherosclerosis in 51 (35%), cystic media necrosis in 50 (35%), Marfan syndrome in 35 (24%), syphilis in three (2%), non-specific aortitis in one (0.7%), Turner syndrome in one and infective endocarditis in four cases. Aortic dissection was found in 67 patients (46%): type I in 14 (23%) and type II in 53 (77%). Twenty-one patients (15%) were operated on during the acute phase of the dissection. The Bentall-DeBono technique was used in 144 operations, in four cases (2.7%) supracoronary resection was performed. Associated procedures included: mitral valve repair (five), CABG (four), resection of the coarctation (two), MV replacement (two). Biological tissues condition was assessed using TTE TEE and computed tomography (CT) scanning technique. RESULTS: Hospital mortality was 8.3 % (12 patients). The death was caused by: low cardiac output (three), arrhythmia (two), neurological complications (one), sepsis (one), polyorgan failure (four), bleeding (one). Non-lethal complications included: bleeding (four), heart failure (two), persisting A-V block (two), polyorgan failure (three), cerebral (two), mediastinitis (three), and early prosthetic endocarditis in three patients. All three patients with endocarditis were successfully re-operated and conduit replaced with the same type of the device. Late follow-up ranged from 2 months to 8 years (mean, 51 months) and complete in 87% of the discharged patients (115 patients). There were four valve-related deaths due to thrombembolia and five deaths non related to the valve and/or conduit. Clinical and instrumental evaluation did not reveal any signs of tissue degeneration at the conduit and biovalves' cusps. CONCLUSIONS: The xenopericardial valved conduit is an effective and acceptable device for the replacement of ascending aorta in almost all cases, it provides good early and late results. It's pliability and elasticity are especially attractive in situations with frail tissues and high risk of bleeding.

[Heart valve bioprostheses of the "Bionix" series. 6-year experience with the mitral valve replacement]. / Bioprotezy klapanov serdtsa serii "Bioniks". 6-letnii opyt zameshcheniia mitral'nogo klapana.

The main cause of cardiac valve bioprosthesis dysfunction is mechanical rupture of the cusps consequent upon the development of "fatigue" tensions and calcification of the biologic tissue. The technology of "Bionix" prostheses manufacturing implies prevention of these complications by means of supporting frameworks of variable rigidity (dumping stroke loads) and the use of a calcinosis inhibitor in the process of chemical stabilization. Experimental research confirms the certain effectiveness of such an approach to solving the problem of bioprosthesis durability. Experience in clinical application of biological valves of this series showed that by the 5th postoperative year the stability of good results was 90.0 +/- 2.2%; absence of thromboembolic complications in 93.3 +/- 2.4%, and no need to operate because of dysfunction of the bioprosthesis in 96.6 +/- 2.1%.

[Repeat surgery occasioned by the incompetence of the primary tissue in biological prostheses]. / Povtornye operatsii po povodu pervichnoi tkanevoi nesostoiatel'nosti biologicheskikh protezov.

The authors analyse the causes of repeated operations on 42 among a group of 157 patients with implanted biological cardiac valve prostheses and a postoperative follow-up period of 3.5 to 13 years. The main cause of dysfunction of biological prostheses is calcification which develops mostly in xenopericardial valves irrespective of their localization. Detachment of the cusps from the frame and their destruction is characteristic of allogeneic prostheses and those formed from the dura mater. Dysfunction of bioprostheses in the tricuspid position develops much later.

[X-ray evaluation of the results of mitral valve bioprostheses]. / Rentgenologicheskaia otsenka rezul'tatov bioprotezirovaniia mitral'nogo klapana.

An analysis of results of investigations performed in 66 patients has shown that roentgenometric examinations facilitate obtaining an objective estimation of the dynamics of postoperative period in patients with bioprostheses of the mitral valve. After performing such operations many roentgenological signs of the defect undergo involution, the duration of the process being determined by the character of the defect and the initial state of the myocardium. The dynamics of volumetric alterations of the heart were shown to reflect specific functioning of the bioprosthesis.

[Hemodynamic results of replacing the mitral valve with an aortic xenobioprosthesis]. / Gemodinamicheskie rezul'taty zameny mitral'nogo klapana aortal'nym ksenobioprotezom.

Results of an analysis of clinico-hemodynamic data obtained in 66 patients with bioprosthesis of the mitral valve are presented. The data of intraoperative examination as well as of catheterization of heart cavities within the period from 6 to 62 months after operation show the xenoaortic bioprosthesis to give an adequate correction of the mitral valve defect, their implantation was followed by a substantial improvement of the patients's state.

[Mechanisms of mineralization of aortic xenograft bioprostheses in young patients]. / O nekotorykh mekhanizmakh mineralizatsii ksenoaortal'nykh bioprotezov u molodykh liudei.

The results of mitral valve replacement with aortic xenobioprostheses in 15 patients, aged 14 to 20 years, are presented, the follow-up reaching 7 years. The bioprostheses functioned normally 1.5-2 months after the operation. Within three months to 5 years following the operation, 6 patients developed a bioprosthetic dysfunction that caused death in 4. Histologic and ultrastructural examination revealed signs of tissue destruction and calcinosis that were confirmed by roentgenologic and biochemical findings. The pathogenesis of calcification and tissue destruction of xenobioprostheses is discussed.

[Remote results of the correction of mitral valve defects with aortic xenobioprosthesis]. / Otdalennye rezul'taty korrektsii mitral'nogo poroka aortal'nym ksenobioprotezom.

An analysis of the 6-year observations of 84 patients with aortal xenobioprosthesis in the mitral position has shown the bioprostheses to give an adequate and stable correction of hemodynamics, low risk of thromboembolic complications. The anticoagulation therapy was found to be not necessary in most of the patients. The aortal xenobioprostheses in patients older than 20 gave high survival rate (93%) and low risk of specific complications (5,4%). However, great amount of complications in young patients (58%) shows them to be used but for strict indications.

[Experience in organizing primary specialization in epidemiology]. / Opyt organizatsii pervichnoi spetsializatsii po épidemiologii.

Experience in the organization of the primary stage of specialization in epidemiology is described. In the process of this specialization the students study the subject and the methods of an epidemiologist's work, practice their skills in epidemiological analysis, acquire experience and skills necessary for work with scientific literature and in research. Grounds for the necessity of summarizing the working experience of different chairs in the form of methodological recommendations to be universally used through the country are given.

[Immunological indices in acquired heart defects after heart valve replacement with bioprostheses]. / Immunologicheskie pokazateli u bol'nykh s priobretennymi porokami serdtsa posle zameny klapanov serdtsa bioprotezami.

The indices of cellular and humoral immunity were studied in 46 patients with heart diseases of rheumatic origin prior to and alter operation for replacement of the heart valves with synthetic prostheses (in 19) and pig aortic valves treated with glutaraldehyde and methaperiodate solutions ater Karpantje (in 27). The indirect fluorescence method and the leukocyte migration inhibition test to the myocardial antigens showed that the operation for valve prosthetics causes an increase in the content of antibodies and activation of specific leukocyte sensitization to the antigens of the myocardium and heart valves. These changes do not depend on the type of the valve prosthesis and are normalized by the 6th month. The activation of immunological processes encountered in some patients in late periods after the operation (1-8 years) corresponded to an aggravation of their clinical condition which in most cases was not associated with impaired functioning of the biological prosthesis. The implantation of xenogenous valve prostheses treated by Karpantje's method did not cause the development of immunological processes which could have induced destruction of the prostheses.

[Results of implanting aortic valve xenografts into the tricuspid position]. / Rezul'taty implantatsii ksenoklapanov aorty v trikuspidal'nuiu pozitsiiu.

From 1968 to 1976 transplantation of the tricuspid valve was performed on 47 patients with combined form of rheumatic heart disease. Hospital mortality was 36%. The follow-up period in 30 cases ranged from one to 7 1/2 years. Ten patients died in the late postoperative periods, only in one of them the cause of death was associated with incompetence of the transplanted valve. According to the findings of dynamic clinical follow-up, the function of the transplant in the other patients was quite satisfactory; at the same time, peculiarities of the phonocardiographic picture of valves treated by different methods were revealed.