Assessment of reference intervals of acylcarnitines in newborns in Siberia

Background. The incidence of diseases associated with impaired transport and oxidation of fatty acids is from 1:5,000 to 1:9,000 newborns. High morbidity, risk of death in the absence of timely correction, non-specificity of clinical manifestations define the importance of their timely laboratory diagnosis based on the determination of free carnitine and acylcarnitines in the blood. Reference values for free carnitine and acylcarnitines vary in different populations.   The aim. To determine the reference intervals of free carnitine and acylcarnitines in newborns of the Irkutsk region and to compare them with similar reference intervals in newborns in other countries.   Methods. The analysis of 229 samples of drу blood spots of healthy newborn children of the Irkutsk region aged from 0 to 7 days was carried out. Analysis of acylcarnitine concentrations was performed using high performance liquid chromatography with tandem mass spectrometry.   Results. 2.5 and 97.5 percentiles (µmol/l) were calculateed for 13 acylcarnitines: C0 – [8.78; 38.08]; C2 – [3.55; 19.09]; C3 – [0.33; 1.96]; C4 – [0.08; 0.51]; C5 – [0.06; 0.44]; C5DC – [0.03; 0.17]; C6 – [0.01; 0.07]; C8 – [0.01; 0.07]; C10 – [0.02; 0.07]; C12 – [0.04; 0.51]; C14 – [0.07; 0.24]; C16 – [0.58; 3.25]; C18 – [0.35; 1.16].   Conclusion. Differences in acylcarnitine reference intervals were found: compared with other countries, the concentrations of reference intervals for C0, C2, C3, C5DC, C8, C10, C14, C16 and C18 were lower in our study, reference intervals for C5 and C12 were higher in our country

Assessment of the course of the gestational process using survey method and depending on the laboratory confirmed prenatal alcohol use (cross-section study)

Background. Studying the problem of alcohol consumption by pregnant women using modern laboratory research methods has valuable theoretical and practical significance. The aim of the study. To determine the characteristics of the pregnancy course in women consuming alcohol in the prenatal period confirmed by survey and laboratory tests, depending on the phosphatidylethanol levels. Materials and methods. We examined 863 women under observation at the Irkutsk Regional Perinatal Center for the period from 2014 to 2021. To confirm the fact of alcohol consumption in the prenatal period, 545 women were surveyed, 318  women were examined using laboratory analysis. The diagnostic biomarker for  alcohol was  PEth:16:0/18:1. To assign pregnant women to  the control group, a PEth concentration of ≤ 8 ng/ml was taken. If the PEth concentration was > 8 ng/ml, pregnant women were classified as heavy drinkers. Clinical and laboratory indicators of the course of pregnancy and childbirth were carried out in comparative groups. Results. It has been established that every second woman of reproductive age took alcohol before pregnancy. 24.2 % of women did not stop consuming alcohol in  the  prenatal period. At the same time, the risk of congenital malformations was high, since 20.4 % of women consumed alcohol in the first trimester of pregnancy. Based on the results of the survey, it was revealed that in women who consumed alcohol in the prenatal period, the following pathological conditions are statistically significantly more common: anemia, congenital heart defects in fetuses, prematurity of gestational age, labor anomalies, uterus subinvolution. Based on the results of laboratory confirmation of alcohol consumption, it was established that parity of birth, intrauterine growth retardation, and  premature birth were statistically significantly more often in pregnant women who drink. Conclusion. Thus, in order to obtain the most meaningful and high-quality results, it is necessary to  conduct larger studies. In addition, maternal blood biomarkers should be used to confirm levels of alcohol consumption throughout all trimesters of pregnancy

СОВРЕМЕННЫЙ ВЗГЛЯД НА ПОСМЕРТНОЕ ДОНОРСТВО ОРГАНОВ. ОПЫТ ФГБУ «ФНЦТИО ИМ. АК. В. И. ШУМАКОВА» МИНЗДРАВА РФ

The analysis of organizational-methodical, legal and medical aspects of questions on organ donation was conducted on the example of FSBI “Academician V.I. Shumakov FRCTAO”, Ministry of Health of the Russian Federation activity. The question of life threatening emergencies organs transplantation becomes vital in accordance to the widespread growth of patients in the terminal stage of organ dysfunction. The first stage of clinical transplantation is organ donation that is considered to be a complex process, characterized by a large number of involved specialists from different fields of medicine and high level of coordination between them. The human organs donation for transplantation is strictly regulated by Law and it is a form of medical practice, too. The organs removal surgery of a deceased person for transplantation is gradually shifting from unique to regular surgical practice. The gold standard is a multi-organ removal from the donor with the brain death diagnosed, that allows getting the most suitable organs for the transplantation from the same donor. However, it is necessary to continue research in this area to improve the surgical technique of these operations and to make appropriate organizational and methodical efforts to improve the efficiency of the posthumous organ donation program.Проведен анализ организационно-методических, юридических и медицинских аспектов вопроса органного донорства на примере работы ФГБУ «ФНЦТИО им. ак. В. И. Шумакова» Минздрава РФ. Повсеместный рост пациентов в терминальной стадии органных дисфункций ставит актуальным вопрос трансплантации жизненоважных органов. Первым этапом клинической трансплантации является донорство органов, сложный процесс, отличающийся большим количеством вовлеченных в него специалистов из различных областей медицины и высоким уровнем координации между ними. Донорство органов человека для трансплантации строго регулируется действующим Законодательством и является видом медицинской деятельности. Хирургические операции по изъятию органов умершего человека для трансплантации постепенно переходят из разряда уникальных в рутинную хирургическую практику. Золотым стандартом является мультиорганное изъятие у донора с констатированной смертью головного мозга, позволяющее получать максимум пригодных для трансплантации органов от одного донора. Однако необходимо продолжать исследования в этой области, совершенствовать хирургическую технику данных операций и прилагать соответствующие организационно-методические усилия для повышения результативности программы посмертного донорства органов

The experience in the development and validation of method for testosterone measurement in blood serum of premenopausal women using HPLC-MS/MS

Testosterone assessment is essential for detecting biochemical hyperandrogenism, one of the important diagnostic criteria of polycystic ovary syndrome (PCOS) both in clinical practice and in epidemiological studies. Currently, tandem liquid chromatography-mass spectrometry (LC-MS/MS) is the most preferred technique to measure testosterone level in women. Its validation is important to reproducibility of androgen tests results for clinical practice and for epidemiological studies of the prevalence PCOS.The aim of the study. To develop and validate a method for determining total testosterone in blood serum using highly efficient LC-MS/MS to assess androgenemia in the epidemiological study of the prevalence of PCOS and its phenotypes in Eastern Siberia (ESPEP STUDY).Materials and methods. We determined a total testosterone level in serum blood using triple quadrupole mass spectrometer LCMS-8060 (Shimadzu, Japan). The protocol of technique was developed using self-prepared purified human testosteronefree serum with a known concentration of analyzed compound. We used the serum samples of women of reproductive age to test the developed method.Results. Optimum chromatographic conditions were obtained with a Kromasil 100-2.5-C18 column (2.1 mm × 100 mm; AkzoNobel, Netherlands), and an isocratic elution mode using a mobile phase consisting of acetonitrile and 0.1 % aqueous solution of formic acid. The total flow rate was 0.35 ml/min. The lower limit of quantification was 5 ng/dl with an average accuracy of 100.2 %. During the approbation of the method in a test population sample of 1138 premenopausal women (mean age – 34.3 ± 6.3 years), the median testosterone concentration was 26.9 ng/dl.Conclusion. It was found that the proposed method for determining testosterone in blood serum has acceptable linearity and reproducibility and meets the requirements for bioanalytical methods under the regulatory documentation. This method can be used for clinical practice and epidemiological study of the prevalence of PCOS

Программная иммуносорбция с регенерацией сорбционных колонок при лечении волчаночного нефрита

Programmed immunoadsorption (IA) with regeneration of adsoption columns is a promising and safe technique to treat lupus nephritis (LN) in case of ineffective immunosuppressive therapy and its severe adverse reactions. This technique makes it possible to control disease activity, to maintain kidney function, and to ensure a normal quality of life. Due to the reusability of IA columns, it is possible to remove any required amount of IgG and to reduce the cost of an extracorporeal procedure.The paper describes a clinical case of 3-year prolonged IA in a female patient with systemic lupus erythematosus (SLE) and LN with the insufficient efficacy of drug therapy and related complications. Seventy IA sessions were performed during a follow-up period. Combined treatment with glucocorticoids, cytotoxic drugs, and IA resulted in improved clinical and laboratory parameters, lower SLE activity according to SELENA-SLEDAI scores, and better quality of life according to the SF-36 scale. No adverse reactions were recorded during IA sessions.Программная иммуносорбция с регенерацией колонок (ИСр) – перспективный и безопасный метод лечения волчаночного нефрита (ВН) при недостаточной эффективности и выраженных неблагоприятных реакциях иммуносупрессивной терапии. Этот метод позволяет контролировать активность заболевания, сохранять функцию почек, обеспечивать нормальное качество жизни. Благодаря многоразовому использованию иммуносорбционных колонок можно удалить любое необходимое количество IgG и снизить себестоимость экстракорпоральной процедуры.Представлено клиническое наблюдение 3-летней пролонгированной ИСр у больной системной красной волчанкой (СКВ) и ВН с недостаточной эффективностью и осложнениями медикаментозной терапии. За период наблюдения выполнено 70 ИСр. На фоне комбинированного лечения с использованием глюкокортикоидов, цитотоксических препаратов и ИСр наблюдается улучшение клинических и лабораторных показателей, уменьшение активности СКВ по SELENA-SLEDAI, улучшение качества жизни по шкале SF-36. Неблагоприятных реакций при проведении процедур ИСр не зарегистрировано

Радиационная обстановка на территории площадки уранового наследия в пади Бамбакай (Забайкальский край)

The article presents the results of a study of the current radiation situation at the uranium legacy site located in the territory of the Bambakai Valley (Transbaikal Territory), formed in the period from 1973 to 1989 due to the discharge of mine water. During the radiation survey, the method of pedestrian gamma survey was used to measure the ambient dose equivalent rate. Soil sampling was carried out to study the radionuclide specific activities in the soil. The activity of gamma-emitting radionuclides in the samples was measured with a stationary gamma spectrometer. The activities of 210Po and 210Pb were measured after their radiochemical extraction from samples. It was found that the values of ambient dose equivalent rate in the territory of the valley varied over the wide range from 0.1 to 1.4 µSv/h in the areas under manmade contamination. The estimated average value of the gamma background for this place is 0.14±0.02 µSv/h. The specific activities of 238U, 226Ra, 235U, 210Pb and 210Po in the surface 10-cm soil layer at the site are from 10-40 times higher than the background values. The most part of radionuclides in the soil is in the acid-soluble form. Effective doses of the workers involved in hay harvesting in the area of the fallow land do not exceed 1.5 µSv/year. Doses of terrestrial environmental media (grass, earthworms) are 100 and more times lower than the safe level of exposure to biota.В статье приводятся результаты исследования современной радиационной обстановки на площадке уранового наследия, расположенной на территории пади Бамбакай (Забайкальский край), образовавшейся в период с 1973 по 1989 г. из-за сброса шахтных вод. При радиационном обследовании для измерения мощности амбиентного эквивалента дозы использовался метод пешеходной гамма-съемки. Для исследования удельной активности радионуклидов в почве проводился отбор проб. Активность гамма-излучающих радионуклидов в пробах измерялась на стационарном гамма-спектрометре. Измерение активности 210Po и 210Pb проводилось после их радиохимического выделения из проб. Установлено, что значения мощности амбиентного эквивалента дозы на территории пади варьируются в широком диапазоне от 0,1 до 1,4 мкЗв/ч на участках с техногенным загрязнением. Оцененное среднее значение гамма-фона для данной местности составляет 0,14±0,02 мкЗв/ч. Удельная активность 238U, 226Ra, 235U, 210Pb и 210Po в поверхностном 10-сантиметровом слое почвы на локальных загрязненных участках территории в 10–40 раз выше фоновых значений. Большая часть радионуклидов в почве находится в кислоторастворимой форме. Эффективные дозы облучения работников, проводящих заготовку сена на территории пади, не превышают 1,5 мкЗв/год. Дозы облучения наземных биообъектов (трава, дождевые черви) ниже безопасного уровня облучения биоты в 100 и более раз

Терапевтический аферез в комплексной патогенетической терапии анти-NMDA-энцефалита, ассоциированного с тератомой яичника на позднем этапе заболевания

Anti‑NMDA encephalitis is a rare autoimmune disease of the central nervous system caused by the synthesis of autoantibodies to the NR1/NR2 subunits of the NMDA receptor, characterized by the development of acute mental, cognitive, motor, autonomic disorders, epileptic syndrome and central hypoventilation.The article presents a three‑year observation of patient 34 years old with anti‑NMDA ncephalitis associated with late‑ stage ovarian teratoma, accompanied by an increase titer of antibodies to NMDA receptors in serum to 1:640.Based on a detailed analysis of clinical, neurological, neuropsychological (MMSE, MoСA, FAB, 10 words test A.R. Luria) and laboratory‑instrumental characteristics of the disease (titer anti‑NMDA, level of IgG, IgM, IgA, lymphocyte subpopulations, EEG, MRI of the brain, pelvis) suggested a combination scheme of first and second line therapy. The sequential use of two cycles of medium‑volume membrane plasmapheresis (25–30 % of the circulating plasma volume, No. 5 + 5) was carried out in combination with pulse therapy with methylprednisolone 1.0 (No. 4 + 3) and cyclophasphamide 1.0 (No. 2 + 1) on background of persistent ovarian teratoma. Symptom regression was achieved by the end of the first cycle, and full recovery to the initial level of cognitive functions occurred after the second cycle, while maintaining the anti‑NMDA antibody titer to 1:160. After removal of ovarian teratoma, the level of anti‑NMDA decreased in a month to 1:40, and after 7 months it reached normal values (<1:10) against the background of basic pill therapy with methotrexate 12.5 mg/week.Thus, a rational combination and sequence of first and second line therapy and therapeutic apheresis, taking into account the pathogenetic features of each phase of the disease, can quickly achieve complete stable remission in patient with anti‑NMDA encephalitis.Анти‑NMDA‑энцефалит является редким аутоиммунным заболеванием центральной нервной системы, обусловленным синтезом аутоантител к NR1/NR2‑субъединицам NMDA‑рецептора и характеризующимся развитием острых психических проявлений, когнитивных, двигательных, вегетативных расстройств, эпилептического синдрома и центральной гиповентиляции.В статье представлено 3‑летнее наблюдение пациентки 34 лет с клиническими проявлениями NMDA‑энцефалита, ассоциированного с тератомой яичника на поздней стадии заболевания, сопровождающегося повышением титра антител к NMDA‑рецепторам в сыворотке крови до 1:640.На основании детального анализа клинико‑неврологических, нейропсихологических (MMSE, МоСА, FAB, тест 10 слов А.Р. Лурия) и лабораторно‑инструментальных характеристик заболевания (титр анти‑NMDA, уровни IgG, IgМ, IgА, субпопуляционный состав лимфоцитов, электроэнцефалография (ЭЭГ), магнитно‑резонансная томография (МРТ) головного мозга, малого таза) применена схема комбинации средств 1‑й и 2‑й линий терапии. Проводилось последовательное применение 2 циклов мембранного среднеобъемного плазмафереза (25–30 % объема циркулирующей плазмы, №5 + 5) в сочетании с пульс‑терапией метилпреднизолоном 1,0 г (№4 + 3) и циклофосфамидом 1,0 г (№2 + 1) на фоне сохраняющейся тератомы яичника. Регресс симптоматики был достигнут к концу 1‑го цикла терапевтического афереза, а полное восстановление до исходного уровня когнитивных функций наступило после 2‑го цикла, при сохранении титра анти‑NMDA‑антител до 1:160. После удаления тератомы яичника уровень анти‑NMDA‑антител снизился за месяц до 1:40, а через 7 мес достиг нормальных значений (<1:10) на фоне базисной терапии метотрексатом в таблетках в дозе 12,5 мг/нед.Таким образом, рациональная комбинация и последовательность средств 1‑й и 2‑й линий терапии и терапевтического афереза с учетом патогенетических особенностей каждой фазы заболевания позволила быстро достичь полной устойчивой ремиссии у пациентки с анти‑NMDA‑энцефалитом на позднем этапе заболевания

ТЯЖЕЛАЯ СОЧЕТАННАЯ ЗАКРЫТАЯ ТРАВМА ЖИВОТА: ОСОБЕННОСТИ РЕАНИМАТОЛОГИЧЕСКОЙ ТАКТИКИ

The objective: to work out recommendations on the optimization of intensive care for those with severe concurrent abdomen injuries.Subjects Specific features of intensive care tactics were analyzed in 210 patients with severe concurrent trauma. The detail characteristics of Groups 1 and 2 are presented in report one on this issue [6]. In order to achieve the objective of the study, the specific course of the trauma disease was analyzed in 54 patients with severe concurrent abdomen trauma.Results. The difference in the intensive care tactics during the first period of the trauma disease depended on the volume of acute blood loss. In the post-shock period of the trauma disease, the specific parameters in the intensive care in those with a severe abdomen injury, dominating over other injuries, are defined by the infectious complications; the damage control is more often used in them versus patients with the same severity of trauma but without abdomen injury. The main activities of the intensive care of severe sepsis include augmented anti-bacterial therapy, treatment of endotoxicosis and multiple organ failure, use of extracorporeal haemocorrection.Conclusions. The forecast is the most unfavorable for the period of the maximum probability of complications in the patients with severe concurrent abdomen injury versus those with other severe concurrent injuries. The first period of trauma disease in such patients is characterized by a high volume of infusion-transfusion therapy with a higher frequency of blood reinfusions. In Trauma Center of the first level, the conservative management tactics for not severe injuries of parenchymal abdomen organs seems to be promising for surgery of injuries.Цель: разработка рекомендаций по оптимизации реаниматологической помощи пострадавшим с тяжелой сочетанной травмой живота.Материал исследования. Проанализированы особенности реаниматологической тактики у 210 пострадавших с тяжелой сочетанной травмой. Подробная характеристика 1-й и 2-йгрупп представлена в первом сообщении по данной теме [6]. Для полной реализации цели исследования проанализированы особенности течения травматической болезни у 54 пострадавших с тяжелой сочетанной травмой живота.Результаты. Различия в тактике оказания реаниматологической помощи в первом периоде травматической болезни обусловлены большей величиной острой кровопотери. В постшоковых периодах травматической болезни специфика реаниматологической помощи у пострадавших с ведущими по тяжести повреждениями органов живота определяется инфекционными осложнениями, большей частотой применения тактики «damage control» по сравнению с пострадавшими с аналогичной по тяжести травмой без тяжелого повреждения живота. Основные направления интенсивной терапии тяжелого сепсиса: аргументированная антибактериальная терапия, лечение эндотоксикоза и полиорганной недостаточности, применение методов экстракорпоральной гемокоррекции.Выводы. У пострадавших с тяжелой сочетанной травмой живота по сравнению с пациентами с другими тяжелыми сочетанными повреждениями прогностически более неблагоприятным является период максимальной вероятности развития осложнений. Первый период травматической болезни у данных пострадавших характеризуется большим объемом инфузионно-трансфузионной терапии, большей частотой применения реинфузии крови. В условиях травмоцентра первого уровня консервативная лечебная тактика при нетяжелых повреждениях паренхиматозных органов живота представляется перспективным направлением в хирургии повреждений

THE MODERN VIEW AT POSTHUMOUS ORGAN DONATION. FSBI “ACADEMICIAN V.I. SHUMAKOV FRCTAO”, MINISTRY OF HEALTH OF THE RUSSIAN FEDERATION, EXPERIENCE

The analysis of organizational-methodical, legal and medical aspects of questions on organ donation was conducted on the example of FSBI “Academician V.I. Shumakov FRCTAO”, Ministry of Health of the Russian Federation activity. The question of life threatening emergencies organs transplantation becomes vital in accordance to the widespread growth of patients in the terminal stage of organ dysfunction. The first stage of clinical transplantation is organ donation that is considered to be a complex process, characterized by a large number of involved specialists from different fields of medicine and high level of coordination between them. The human organs donation for transplantation is strictly regulated by Law and it is a form of medical practice, too. The organs removal surgery of a deceased person for transplantation is gradually shifting from unique to regular surgical practice. The gold standard is a multi-organ removal from the donor with the brain death diagnosed, that allows getting the most suitable organs for the transplantation from the same donor. However, it is necessary to continue research in this area to improve the surgical technique of these operations and to make appropriate organizational and methodical efforts to improve the efficiency of the posthumous organ donation program

Antibacterial therapy of sepsis in extracorporeal detoxication: current problems and ways to solve them

The effectiveness of antibacterial therapy is a critical factor to improve treatment outcomes in sepsis patients. Impaired renal function and renal replacement therapy lead to a significant change in the pharmacokinetic parameters of most intravenous antibacterial drugs, which in many cases is accompanied by insufficient or excessive concentration in the blood which results in antibacterial therapy failure. The article presents current views and describes the current problems of antibacterial therapy for sepsis during the use of extracorporeal detoxification methods.The objective: to analyze publications on antibacterial therapy of sepsis during the extracorporeal detoxification.Results: the most accessible and effective method for solving the problem of inadequate dosage of antibiotics when using extracorporeal detoxification is to develop local protocols based on the results of pharmacokinetic studies