CC BY
17
9. Lee J. S., Cheong H. S., Kim L. H., Kim J. O., Seo D. W., Kim Y. H., Chung M. W., Han S. Y., Shin H.D Screening of genetic polymorphisms of CYP3A4 and CYP3A5 genes//The Korean Journal of Physiology & Pharmacology. - 2013. - T. 17. - No. 6. - C. 479-484.
10. Zhang J., Jin T., Yunus Z., Li X., Geng T., Wang H., Cui Y., Chen C. Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China//BMC genetics. - 2014. - V.15. - No. 1. - C. 1-9.
11. Razmkhah F., Pazhakh V., Zaker F., Atashrazm F., Sheikhi M. Frequency of CYP1A1*2C polymorphism in patients with leukemia in the Iranian population//Laboratory Medicine. - 2011. - T. 42. - No. 4. - C. 220-223.
12. Hashemi-Soteh S., Shahabi-Majd N., Gholizadeh A.-R., Shiran M.-R. Allele and Genotype frequencies of CYP2C9 within an Iranian population (Mazandaran)//Genetic testing and molecular biomarkers. - 2012. - V. 16. -No. 7. - C. 817-821.
13. Badavi E., Safavi B., Jalali A., Shahriary G., Mohammadi-Asl J., Babaei, J. Association of CYP3A4 and CYP3A5 polymorphisms with Iranian breast cancer patients//Egyptian J. of Med Hum Genetics. - 2015. - T. 16. - No 3. - C. 219-225.
14. Jin T., Xun X., Du S., Geng T., Wang H., Feng T., Chen C., Yuan D., Kang L. Genetic polymorphisms analysis of drug-metabolizing enzyme CYP2C9 in the Uyghur population//Xenobiotica. - 2016. - T. 46. - No. 8. - C. 709-714.
DOI: http://dx.doi.org/10.20534/ESR-17-1.2-67-70
Berlay Margarita Vasilievna, Assistant of Department of Forensic Medicine and Law Stavropol State Medical University Kopylov Anatoliy Vasilievich, PhD, head of Department of Forensic Medicine and Law Stavropol State Medical University head of Regional Bureau of forensics Karpov Sergey Mikhailovich, MD, professor, head of the department of neurology, Stavropol State Medical University, Russia Department of neurology, neurosurgery and medical genetics
Regional Bureau of forensics E-mail: [email protected]
Current state of the problem sudden infant death at home
Abstract: The "Sudden Infant Death Syndrome" stands for unexpected nonviolent death of apparently healthy chest age child when there is no history or pathomorphological features which can be adequate explanations for death reasons. In Russian Federation, the death rate from this syndrome in the range of 0,06 to 2,8 per 1000 live births. In Stavropol region, average figures are equal to 0,36 per 1000 live births in the period of 2005-2014. Rates of incidence sudden infant death syndrome are similar to the rates of incidence associated with infectious diseases, and as a result of injury or poisoning. Currently paid attention to neurogenic mechanisms of sudden infant death syndrome, as a consequence in combination cranio-spinal birth injury with delayed fatal in infancy, in the period of residual effects.
Keywords: sudden infant death syndrome, cranio-spinal birth injury, a heterogeneous phenomenon, genetic disorders, immunological and endocrine failure.
Introduction. Throughout human history there are descriptions of sudden infants death. Despite the fact that the first one can be found in the Bible, in the king Solomon court scene, today this problem has not lost its acuity and relevance. According to the definition adopted at the second International Conference on sudden infant death (1970), "sudden infant death syndrome (SIDS) is understood as an unexpected non-violent death of an apparently healthy infant, when there are no data of the anamnesis and a patho-anathomical research, adequate for an explanation" [1].
Patho- and morphogenesis of sudden infant death syndrome are a subject of a continuing discussion of clinical physicians and pathomorphologists. Some researchers deny the existence of SIDS, others consider it as a heterogeneous phenomenon developing as a result of genetic disorders or immuno-endocrine insufficiency. It is accepted to distinguish two types according to the mechanism: respiratory and cardiac teratogenesis [2; 3; 4; 5; 6; 7; 18; 22; 23].
It should be noted that pediatricians place emphasis on the presence of neurologic symptomatology at 20-25% of all newborns [8; 9]. Many authors described the clinical manifestations preceding the sudden death of children of the first year of life, which speak of neurologic deficiency and autonomic deregulation. These include: vomiting and choking during feeding or within 30 min after it; apnea; signs of imbalance of the sympathetic system in various sleep phases; hypertonicity of the muscles and hypotension combined with abnormal movements of the body; regurgitation, diaphoresis, hypothermia, transient bradycardia. A number of researchers call the above-stated clinical manifestations life-threatening factors that may have a neurogenic origin, and arise as consequences of a birth trauma of the central and parasympathetic nervous systems [10; 11; 12; 13].
In the majority of industrialized countries the frequency of SIDS makes 0,6-2,0 on 1000 live births [4]. Today the lowest mortality rate from this syndrome is in Japan — 0,09 per 1000 live
births. In New Zealand the highest rates of mortality are recorded — 0,80 per 1000 live births [14]. Mortality from SIDS is presented in the USA by the intermediate values and makes 0,69 on 1000 live-born [24].
In the Russian Federation the mortality rate from this syndrome is ranging from 0,06 to 2,8 on 1000 travailled live [15]. In the large cities the frequency of SIDS approaches the developed countries. Vorontsov I. M. with the coauthor (1997) gives SIDS frequency in St. Petersburg: on average over 10 years it is 0.47 per 1000 live births, which is consistent with the data in Italy. The frequency of SIDS in Moscow is 0,40-0,45 per 1000 live births, similar data are brought across Volga region. The highest mortality rates of SIDS (from 1.06 to 2.8 per 1,000 live births) is characteristic of Orel region, Republic of Dagestan, Republic of Altai and Buryatia, Arkhangelsk, Murmansk, Novosibirsk, Kursk and Kaliningrad regions. Udmurdskaya Republic, Ryazan, Rostov, Volgograd, Samara,
The analysis of 105 cases of SIDS showed that among the dead boys made 62,86% (66), girls of 37,14% (39). In rural areas the number of dead children is 69 (65,71%), in the cities and the regional centers — 36 (34,28%). On the basis of the research seasonality was marked, the highest number of children died in February. In
Table 2. - Causes of infant mortality in
The infant mortality rate declined in 2014, it made 8,2 cases per 1000 live births. The main number of fatal outcomes now account for the early neonatal period (0 to 7 days of life). In the structure of infant mortality in 2014 diseases of perinatal period ranks first (52,5%), in second place — congenital anomalies (15,7%).
A significant share of infant mortality is sudden infant death syndrome. Rates of sudden infant death syndrome cases are close to
Bryansk region are marked by a low mortality from sudden infant death syndrome [4].
The object of the study: to ascertain the frequency of sudden infant death syndrome in Stavropol region and to determine a ratio of this syndrome with other causes of infant death.
Research material and methods: we conducted a retrospective study on SIDS frequency in Stavropol region for the period 20052014. Statistical data were provided by the local authority of government statistics — SBHI of Stavropol region "Medical information-analytical centre". Materials for detailed study were forms of medical death certificates.
Results overview. Table 1 reflects SIDS frequency in Stavropol region. Average values for 2005-2014 made 0,36 on 1000 children who were born live. The highest frequency of 0,53 per 1000 was registered in 2012 and the lowest was observed in 2007 (0,23 per 1000).
general children aged up to 5 months 29 days prevailed — 91 (that corresponded to 86,7%), and the number of deaths up to 1 year equaled 95,2%.
Table 2 reflects the structure of infant mortality in Stavropol region for the period 2005-2014.
Stavropol region (per 1000 live births)
the rates of cases associated with infectious diseases, and as a result of injury or poisoning.
On the basis of modern native and foreign literature analysis the following morphological criteria for the diagnosis of SIDS can be distinguished. Children died of SIDS generally reveal signs of acute death: abundance of a livor mortis, liquid state of blood, hyperemia of the internal organs, edema and areas of atelectasis, emphysemas in
Table 1. - SIDS frequency in Stavropol region
Year Number of live births Number of SIDS cases SIDS frequency per 1000 live births
2005 27 251 13 0,48
2006 27 429 9 0,33
2007 30 642 7 0,23
2008 33 007 8 0,24
2009 32 823 15 0,46
2010 33 067 11 0,33
2011 32 861 8 0,24
2012 26 384 14 0,53
2013 27 759 10 0,36
2014 27 970 10 0,35
Total: 299193 105 0,36
Year Common IM IM Congenital anomalies Respiratory diseases (including pneumonia) Infections Sudden death Injuries and poisoning
2005 11,1 5,39 2,60 1,14 (0,77) 0,40 0,48 0,33
2006 10,1 4,01 2,22 0,98 (0,80) 0,22 0,33 0,47
2007 8,5 4,72 0,19 0,88 (0,82) 0,16 0,23 0,16
2008 9,6 4,58 2,55 0,88 (0,76) 0,18 0,24 0,45
2009 9,7 5,79 1,55 0,73 (0,43) 0,27 0,46 0,64
2010 8,5 5,44 1,21 0,48 (0,45) 0,36 0,33 0,39
2011 8,6 5,69 1,37 0,64 (0,51) 0,27 0,24 0,21
2012 8,6 5,34 1,67 0,74 (0,55) 0,34 0,53 0,45
2013 8,4 5,34 1,76 0,64 (0,75) 0,28 0,36 0,41
2014 8,2 5,25 1,57 0,56 (0,63) 0,26 0,35 0,46
Note: IM - infant mortality, PS - perinatal condition.
lungs, cerebral edema, multiple petechial hemorrhages in the serous and mucous membranes. The following pathological changes are constantly met — hyperplasia of medium and small caliber blood vessels muscular layer in the pulmonary circulation; hypertrophy of the right ventricular wall of the heart; brainstem gliosis; the excessive number of periadrenal brown fat; foci of extramedullary haematopoiesis in liver; thymus and lymphatic nodes hyperplasia of different localization; adrenal glands hypoplasia [1 4, 5]. Certain authors point to existence of dysplastic-dystrophic changes in the heart, lungs, liver, kidney, adrenal glands and regard them as the evidence of the long-lived hidden impact of hypoxia on children who died from SIDS.
It should be mentioned that the majority of morphological works on sudden death of infants of a chest age are often hypothetical and descriptive. Today they are supplemented with data from biochemical, genetic, immunohistochemical and immunofluorescence studies [18; 19; 20; 21; 22; 23; 24; 25]. In this respect, fundamental and pathogenetically verified scientific work by Parilov S. L. (2009) attracts attention. The author described morphological characteristics of the transferred birth trauma in infants in the form of residual signs of damage to the skull, brain, spinal column and the parasympathetic nervous system [11; 12]. Considering Likhterman L. B. classification (2016), these changes can be referred to consequences of a cranial-spinal birth injury in the form of fabric, liquorodynamic and vascular components [16, 4-20]. At the same time they allow to prove the mechanism of
life-threatening conditions appearance (apnea, gastroesophageal reflux, transient cardiac arrhythmias). Parilov S. L. in his work claims that birth injuries of the central and parasympathetic nervous systems in children are absent or demonstrate clinical symptoms of inflammatory diseases poorly. Even if the symptoms are morphologically manifested in the vital organs, there is always a clinical picture of various damage degrees to the nervous system. In case of death of children, who have no damage to the nervous system, somatic diseases have a typical clinical and morphological picture. It should be recognized that pathological changes in central and parasympathetic nervous systems at the time of causing associated cranio-spinal birth injury in most cases have no death pattern, and represent the possible delayed lethal outcome at infantile age, in the period of the residual phenomena. In a continuation of this subject the researches on the biomechanism of a birth trauma of fetus by elective and emergency cesarean section are of interest [17].
Conclusion. Today the etiology of SIDS is considered as a set of multivariate features. There is no doubt in relevance of the syndrome as a manifestation of combined cranio-spinal birth injury with delayed infant deaths in the period of residual phenomena.
Prevention of SIDS is the important reserve of general infant mortality reduction and at-home mortality reduction in particular.
As preventive measures, such arrangements as optimization of antenatal care for mothers, improved obstetric benefits and postnatal care for children can be held.
References:
1. Воронцов И. M., Кельмансон И. А., Цинзерлинг А. В. Синдром внезапной смерти грудныx детей. СПб., - 1997. - 218 с.
2. Aльтxофф Х. Синдром внезапной смерти у детей. Пер. с англ. - M., - 1983. - 144 с.
3. Глуxовец Б. И. Синдром внезапной смерти младенцев: методологические и патогенетические варианты диагноза.//Вопросы современной педиатрии. - M., - 2011. - № 2. - С. 78-82.
4. Кравцова Л. А. Современные аспекты синдрома внезапной смерти детей грудного возраста.//Росс. вест. перинатол. педиатрии. -M., - 2010. - № 2. - С. 60-67.
5. Розумный Д. В. Патоморфология кардиальныга изменений при синдроме внезапной детской смерти.//Саратовский научно-медицинский журнал. - 2014. - Т. 10, - № 1. - С. 48-52.
6. Mедведев Н. Ю. Изменения надпочечников при синдроме внезапной смерти у детей■//Apxив патол. - M., - 1985. - Т. 6, - № 4. -С. 42-47.
7. Цибель Б. Н., Бочкарёва А. К. Функциональная морфология аденогипофиза, тимуса и коры надпочечников при синдроме внезапной смерти младенцев■//Aрxив патол. - M., - 1998. - Т. 3, - № 2. - С. 23-27.
8. Аладинская В. В. К вопросу о родовой травме шейного отдела позвоночника плода и новорожденного.//Пренатальная диагностика. - M., - 2012. - Т. 11, - № 1. - С. 94-95.
9. Правдутна Г. П. Перинатальная гипоксически-ишемическая энцефалопатия: морфо-функциональные изменения, диагностика, нейропротекция, прогнозирование: (экспериментально-клиническое исследование): автореф. дис... канд. мед. наук. СПб., -2013. - 24 с.
10. Paine S. M., Jacques T. S., Sebire N. J. Neuropathological features ofunexplained sudden unexpected death in infancy: current evidence and controversies.//Neuropathol. Appl. Neurobiol. - 2014 Jun; - 40 (4):364-84. - doi: l0.llll/nan.l2095.
11. Парилов С. Л. Судебно-медицинская оценка родовой травмы центральной и парасимпатической нервной системы у новорожденные и детей первого года жизни: автореф. дис. ... д-ра мед. наук. - M., - 2009. - 26 с.
12. Парилов С. Л., Клевно В. А. Дифференциальная диагностика постнатальной сочетанной травмы от родовые повреждений у новорожден^^У/Судебно-медицинская экспертиза. - 2008. - Т. 51, - № 6. - С. 19-21.
13. Карпов С. M. Нейрофизиологические аспекты детской черепно-мозговой травмы. - Ставрополь, - 2010. - 186 с.
14. Mitchell E. A., Krous H. F. Sudden unexpected death in infancy: a historical perspective.//Paediatr. Child. Health. - 2015. - Jan; - 51 (1):108-12. - doi: lO.llll/jpc.12818.
15. Школьникова M. А., Кравцова Л. А. Удлинение интервала Q-Т как один из возможные маркеров риска синдрома внезапной смерти грудные детей.//Росс. вест. перинатол. педиатрии. - M., - 2004. - № 4. - С. 18-23.
16. .^^термал Л. Б., Потапов А. А., Клевно В. А., Кравчук А. Д., Оxлопков В. А. Последствия черепно-мозговой травмы. «Судебная-медицина». Наука. Практика. Образование. - 2016. - 2 (4):4-20. - DOI:l0.l9048/24ll-8729-20l6-2-4-4-20.
17. Парилов С. Л., Сикорская А. К., Гайфуллина Л. Р. Биомеxанизм родовой травмы плода в xоде операции кесарева сечения. «Судебная-медицина». Наука. Практика. Образование. - 2016. - 2 (1):14-17. - DOI:l0.l9048/24ll-8729-20l6-2-l-14-17.
18. Neubauer J., Lecca M. R., Russo G., Bartsch C., Medeiros-Domingo A., Berger W., Haas C. Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases.//Eur. J. Hum. Genet. -2017. - Jan 11. - doi: 10.1038/ejhg.2016.199.
19. Xie H., Chen X., Chen N., Zhou Q Sudden Death in a Male Infant Due to Histiocytoid Cardiomyopathy: An Autopsy Case and Review of the Literature.//Am J. Forensic Med. Pathol. - 2016. - Dec.30. doi:10.1097/PAF.0000000000000289.
20. Spinelli J., Collins-Praino L., Van Den Heuvel C., Byard R. W. Evolution and significance of the triple risk model in sudden infant death syndrome.//J. Paediatr. Child. Health. - 2016. - Dec. 28. - doi: 10.1111/jpc.13429.
21. Lavezzi A. M., Ferrero S., Roncati L., Matturri L., Pusiol T. Impaired orexin receptor expression in the Kolliker-Fuse nucleus in sudden infant death syndrome: possible involvement of this nucleus in arousal pathophysiology.//Neurol. Res. - 2016. - Aug; - 38 (8):706-16.
22. Sarquella-Brugada G., Campuzano O., Cesar S., Iglesias A., Fernandez A., Brugada J, et al. Sudden infant death syndrome caused by cardiac arrhythmias: Only a matter of genes encoding ion channels? Int. J. Legal. Med. - 2016. - 130:415-420. - doi: 10.1007/s00414-016-1330-7.
23. Gilbert J., Sheppard M. N., Byard R. W. Sudden Infant and Early Childhood Death and Sinus of Valsalva Pseudoaneurysms.//J. Forensic. Sci. - 2016. - No. 16. - doi:10.1111/1556-4029.13293.
24. Rubens D., Sarnat H. B. Sudden infant death syndrome: an update and new perspectives of etiology.//Handb Clin Neurol. - 2013. -112:867-74. - doi: 10.1016/B978-0-444-52910-7.00008-8.
25. McDonald F. B., Chandrasekharan K., Wilson R. J., Hasan S. U. Cardiorespiratory control and cytokine profile in response to heat stress, hypoxia, and lipopolysaccharide (LPS) exposure during early neonatal period.//Physiol Rep. - 2016. - Feb; 4 (2). pii: e12688. - doi: 10.14814/phy2.12688.
DOI: http://dx.doi.org/10.20534/ESR-17-1.2-70-71
Kilichev Anvar Akramovich, Kurbanov Ravshanbek Davletovich Republican Specialized Center of Cardiology, Uzbekistan E-mail: [email protected]
Study of diastolic function in patients with Q-wave myocardial infarction
Abstract: The article presents data on the study of diastolic function in patients with Q-wave myocardial infarction. It has been found that the progression of left ventricular diastolic dysfunction in patients with Q-wave myocardial infarction is associated with a longer course of coronary heart disease and hypertension.
Keywords: diastolic dysfunction, myocardial infarction, heart rate variability.
Prediction of adverse remodeling of the left ventricle (LV) after acute myocardial infarction is an actual problem of modern cardiology. The necessity of studying left ventricular remodeling in patients with myocardial infarction due to the fact that this process is the basis of the formation and progression of heart failure, occurrence of threatening ventricular arrhythmias and sudden death [1; 2; 3]. Studies in recent years have shown that the presence of left ventricular diastolic dysfunction (LVDD) as one and/or more abnormal Doppler echocardiography indices have significant prognostic value in patients with cardiovascular disease, which increases with the degree LVDD [4; 5].
The aim of this study was to evaluate left ventricular diastolic function in patients with acute myocardial infarction
Materials and methods.We examined 131 male patients with primary Qwave myocardial infarction, aged from 30 to 69 years (51.9 ± 9.13 years). The steady phase of acute myocardial infarction, treatment was carried out in accordance with recommendations for management of patients with myocardial infarction with ST-segment elevation and included thrombolytic therapy if indicated, early administration of beta-blockers, antiaggregants, anticoagulants, nitrates, lipid-lowering agents, ACE inhibitors, loop diuretics. Against the background of conducted therapy for acute myocardial infarction on the 10th -14th day, all patients underwent clinical examination, including casual examination, medical history, ECG in 12 standard leads, echocardiography. Echocardiography and
Doppler studies were performed on the machine «Sonoline Versa Pro» according to the standard procedure using the recommendations of the American Society of echocardiography.
The data were processed using the computer program Microsoft Excel, STATISTICA 6 and Biostat. The odds ratio (OR) and 95% confidence intervals (95% CIs) were calculated using logistic regression. The significance of differences was assessed using indicators of non-parametric ^2 test (Pearson's test). Quantitative indicators are presented as M ± SD. Correlation relationship was investigated by regression analysis and Spearman's rank correlation coefficient. Differences between groups were considered statistically significant at P <0.05.
Results and discussion. Undoubtedly, with the progression of coronary heart disease character of diastole indicators, its function undergo complex changes associated with worsening of diastolic disorders, and development of adaptive hemodynamic reactions, acting through the increase in pressure in the left atrium and/or end-diastolic pressure of left ventricle and lead to the formation of different types of diastolic dysfunction: inadequate relaxation, pseudonormal and restrictive [6; 7; 8]. To assess the relationship of violations of left ventricular contractile function and LVDD the patients were divided into 2 groups (Table 1.): group with preserved left ventricular systolic function (ejection fraction >50%) and group with reduced ejection fraction (<50%).
