33 research outputs found
Diagnostics of Fabry disease in arrhythmology practice: a case report
Heart failure in Fabry disease (FD) is unfavorable prognostic manifestation and cause of death. Given that the disease is rare in clinical practice, the low awareness of physicians about this pathology leads to its late diagnosis and the lack of pathogenetic therapy.Aim. To present a clinical picture of the cardiovascular phenotype in FD in order to increase the awareness of doctors about this disease.Material and methods. In this clinical case, an asymptomatic FD course up to 46 years of age and mani festation in the form of arrhythmia were observed. According to echo car dio graphy, severe left ventricular hypertrophy (myocardial mass index, 214 g/m2) without signs of left ventricular (LV) outflow tract obstruction and left atrial (LA) dilatation were revealed (LA volume index — 47 ml/m2). Right ventricular (RV) and LV systolic function was assessed using two-dimensional speckletracking strain echocardiography. Latent subclinical RV and LV systolic dysfunction was established.Results. Tandem mass spectrometry revealed a sharp decrease in alphagalactosidase activity of 0,03 umol/L/h (norm range, 0,80-15,00 umol/L/h), as well as an in creased Lyso-GB3 concentration of 95,18 ng/ml (normal range, 0,05-3,0 ng/ ml). A molecular genetic study of blood samples was carried out. By direct automatic sequencing of the GLA gene, a variant of the c.1229 C>T nucleotide sequence was identified, leading to the replacement of p.Thr4101le in the hemizygous state.Conclusion. This case shows the possibility and expediency of diagnosing FD in cardiology practice in patients with LV myocardial hypertrophy of unclear etiology, while atypical variants can be diagnosed only by molecular genetic testing
ЦИТОМЕГАЛОВИРУСНАЯ ИНФЕКЦИЯ У РЕБЕНКА СО СПИНАЛЬНОЙ АМИОТРОФИЕЙ
This article describes a clinical case, representing the diagnostic difficulties. The baby of 4 months with bright neurological symptoms that appeared after vaccination, and coming with a diagnosis of "post-vaccination complications" in the survey diagnosed active cytomegalovirus infection and spinal muscular atrophy type 1. The role of the infective matter within the underlying disease was analyzed. В статье описан клинический случай, представлявший диагностические трудности. У ребенка 4-х месяцев с яркой неврологической симптоматикой, появившейся после проведения вакцинации, и поступавшего с диагнозом «поствакцинальное осложнение», в процессе обследования диагностирована активная цитомегаловирусная инфекция и спинальная амиотрофия 1 типа. Проанализирована роль инфекционного агента в течении основного заболевания.
ОСОБЕННОСТИ ТЕЧЕНИЯ ИНФЕКЦИИ, ВЫЗВАННОЙ ВИРУСОМ ГЕРПЕСА ЧЕЛОВЕКА 6 ТИПА, У ДЕТЕЙ РАННЕГО ВОЗРАСТА НА ФОНЕ ОСТРОЙ РЕСПИРАТОРНОЙ ВИРУСНОЙ ИНФЕКЦИИ
We examined 95 children aged from 5 months till 3 years (middle age 1,7 ±1,1), who were admitted in children's infectious department of theClinicalInfectionsHospital№1 by diagnosis acute respiratory virus infection in the height of disease. Anti-genes of sharp respiratory viruses by the IF method, markers of HHV-6 type, and also a cytomegalovirus of the person (CMV) and Epstein-Barre's virus the ELISA methods and PTsR-rv are studied. Respiratory viruses are found among the hospitalized children in 46,3% of cases, from them paraflu (32,6%) in comparison with flu (9,5%) and a respiratornosintsitialny virus (4,2%), р < 0,05 statistically significantly is more often revealed. Markers of HHV are revealed at 73,7% of children. During the mixed infection HHV-6 markers are found in the vast majority of children (79,4%) in combination with this or that representative of Herpesviridae, is statistically significantly more often with CMV(16,8%), р < 0,05. DNA of HHV-6 is statistically significantly more often (41%) and with more viral load (53 400 copies/ml ) is revealed in a saliva in comparison with blood and urine. DNA of HHV-6 ina saliva statistically significantly is defined among the children visiting child care centers more often, than at unorganized children (72% against 40,4%, р = 0,0001) that testifies about a horizontal transmission of infection. It is observed that markers of HHV-6 are defined statistically significantly more often among children aged from 7 till 12 months (50%) and among children older by 1 year (49,2%) in comparison with children aged from 0 till 6 months (10%), р < 0,05. It is shown that among children of an early age the exanthema at HHV-6-of an infection is associated with presence of DNA of HHV-6 with high concentration (more than 120 000 copies/ml) in blood.Обследовано 95 детей в возрасте от 5 месяцев до 3-х лет (средний возраст 1,7 ± 1,1 года), поступавших в детское инфекционное отделение КИБ № 1 с диагнозом ОРВИ в разгаре заболевания. Изучены антигены острых респираторных вирусов методом нИФ, маркеры ВГЧ-6 типа, а также цитомегаловируса человека (ЦМВ) и вируса Эпштейна-Барр (ВЭБ) методами ИФА и ПЦР-рв. У госпитализированных детей в 46,3% случаев обнаружены респираторные вирусы, из них статистически значимо чаще выявлен парагрипп (32,6%) по сравнению с гриппом (9,5%) и респираторно-синцитиальным вирусом (4,2%), р < 0,05. Маркеры ГВИ выявлены у 73,7% детей. При смешанной инфекции у подавляющего большинства детей (79,4%) обнаружены маркеры ВГЧ-6 в сочетании с тем или иным представителем Herpesviridae, чаще — с ЦМВ (16,8%), р < 0,05. ДНК ВГЧ-6 статистически значимо чаще (41%) и с большей вирусной нагрузкой (53 400 копий/мл) выявлена в слюне по сравнению с кровью и мочой. ДНК ВГЧ-6 в слюне чаще определяется у детей, посещающих детские учреждения, чем у неорганизованных детей (72% против 40,4%, р = 0,0001), что свидетельствует о горизонтальной передачи инфекции. Установлено, что маркеры ВГЧ-6 выявляются чаще у детей в возрасте от 7 до 12 месяцев (50%) и у детей старше 1 года (49,2%) по сравнению с детьми в возрасте от 0 до 6 месяцев (10%), р < 0,05. Показано, что у детей раннего возраста экзантема при ВГЧ-6-инфекции ассоциирована с присутствием ДНК ВГЧ-6 с высокой концентрацией (более 1000 копий/106) в крови.
Peculiarities of the influenza viruses circulation and their properties during 2018-2019 epidemic season in Russia and countries of the Northern Hemisphere
Objective. To identify the drift variability of influenza viruses during the period of epidemic rise in the incidence of acute respiratory viral infections in the period 2018-2019. The biological and molecular-genetic properties of epidemic strains isolated in certain territories of the Russian Federation were studied and compared with data from the countries of the Northern Hemisphere. Materials and methods. A range of laboratory diagnostic methods has been applied, including immune fluorescence, RT-PCR, sequencing, methods for determining sensitivity to influenza drugs and receptor specificity. Results and discussion. The proportion of influenza viruses was as follows: A (H1N1) pdm09 - 53 %, A (H3N2) - 46 %, B - about 1 %. Cases of severe acute respiratory infections have most often been associated with influenza A(H1N1) pdm09 virus. According to antigenic properties, isolated strains corresponded to the properties of vaccine viruses (A/Michigan/45/2015 - by 99.6 % and A/Singapore INFIMH-16-0019/2016 - by 86 %). The heterogeneity of influenza A virus strains population was revealed as regards individual mutations in hemaglutinin. The influenza B virus population was equally represented by both evolutionary lines (B/Victoria and B/Yamagata-like). Receptor specificity was favorable for the course and outcome of the disease. Among 70 studied epidemic strains, no strains resistant to anti-neuraminidase drugs, oseltamivir and zanamivir, were detected. The article presents WHO recommendations on the composition of influenza vaccines for the countries of the Northern Hemisphere for 2019-2020, provides data on cases of human infection with avian influenza viruses A(H5N1), A(H5N6), A(H7N9) and A(H9N2)
Грипп-2016: клинико-эпидемиологические особенности и современные возможности эффективной терапии (по данным ГБУЗ города Москвы «Инфекционная клиническая больница № 1 Департамента здравоохранения города Москвы»)
The aim of this study was to monitor in-hospital influenza virus infection during 2015 – 2016 epidemic flu season. Methods. Influenza virus was searched in patients hospitalized to a clinical infectious diseases hospital with acute respiratory viral infection during 2015 – 2016 influenza seasonal growth period using real-time RT-PCR method. Influenza virus was isolated from nasal swabs and autopsy material using canine kidney cell line. Other laboratory methods used included complete blood count, blood chemistry, blood gas analysis, urinalysis, and chest X-ray examination. Results. We examined 1,491 patients (375 adults, 546 children, 570 pregnant women with early gestational age). The proportion of hospitalized patients with confirmed A / H1N1pdm09 influenza in January – February, 2016, was 91.3%. A / H3N2 influenza virus was diagnosed in 5.7%, influenza B virus was isolated in 1.2% of patients. Totally, influenza virus was detected in 35.2% of samples, of which 30.1% of samples were obtained from adults, 33.7% of samples were obtained from children, and 39.8% of samples were obtained from pregnant women. The prevalent patient’s age was 15 to 60 years (76.1%) in adults and 3 to 6 years in children. Moderate course of influenza with a high rate of hospital admission was seen more often and was similar to that of 2009 – 2010 epidemic season. Proportion of patients with flu complicated by pneumonia was higher than that in 2014 – 2015 epidemic season. Bilateral lung injury was diagnosed in 48.4% of patients. High mortality in ICU (46.4%) was due to delayed start of antiviral treatment and late admission to a hospital. Conclusion. In 2015 – 2016 epidemic flu season, higher morbidity, complications and poor outcomes were related to predominant infection of A – H1N1pdm09 influenza virus. Risk factors of complications and death were delayed care seeking, lack of modern antiviral medications and comorbidity.Актуальность. В период подъема заболеваемости в сезоне 2015–2016 гг. в рамках эпидемиологического надзора за циркуляцией вирусов гриппа в Российской Федерации Центром экологии и эпидемиологии гриппа (ЦЭЭГ) Института вирусологии им. Д.И.Ивановского ФГБУ «Федеральный научно-исследовательский центр эпидемиологии и микробиологии имени почетного академика Н.Ф.Гамалеи» Минздрава России (Москва) на базе ГБУЗ города Москвы «Инфекционная клиническая больница № 1 Департамента здравоохранения города Москвы» (ГБУЗ г. Москвы «ИКБ № 1 ДЗМ») осуществлялся госпитальный мониторинг в условиях специализированного стационара, целью которого являлось определение количественного и качественного распределения штаммов вирусов гриппа А и В среди госпитализированных пациентов, в т. ч. с тяжелой формой заболевания, а также анализ частоты осложнений и эффективности противовирусной терапии. Материалы и методы. В период подъема заболеваемости гриппом в ГБУЗ г. Москвы «ИКБ № 1 ДЗМ» госпитализированы пациенты с клиническим диагнозом острая респираторная вирусная инфекция. Детекция вирусов гриппа проводилась методом полимеразной цепной реакции с обратной транскрипцией в режиме реального времени. Вирусы гриппа были изолированы из назальных смывов и секционного материала на перевиваемой клеточной линии почки собаки (MDCK). Лабораторная диагностика включала клинический и биохимический анализ крови, анализ газового состава крови, анализ мочи, рентгенологическое исследование органов грудной клетки. Результаты. В январе-феврале 2016 г. доля больных, госпитализированных в ГБУЗ г. Москвы «ИКБ № 1 ДЗМ» с лабораторно подтвержденным гриппом A / H1N1pdm09, составила 91,3 %, A / H3N2 – 5,7 %, В – 1,2 %. Обследованы пациенты (n = 1 491) – взрослые (n = 375), дети (n = 546) и беременные (n = 570) на разных сроках. Доля положительных на грипп проб в целом составила 35,2 %. Среди взрослых положительными на грипп были 30,1 % проб, среди детей – 33,7 %, среди беременных – 39,8 %. В возрастной структуре преобладали (76,1 %) пациенты в возрасте от 15 до 50 лет. В детской популяции наиболее вовлеченными в эпидемию оказались дети в возрасте 3–6 лет. Преобладали среднетяжелые формы гриппа с высокой частотой госпитализаций, сравнимой с сезоном 2009–2010 гг. Доля пациентов с гриппом, осложненным пневмонией, увеличилась в сравнении с эпидемическим сезоном 2014–2015 гг. Двустороннее поражение легких зарегистрировано у 48,4 % больных. Высокий уровень летальности (46,4 %) в отделении реанимации и интенсивной терапии связан с запоздалым началом противовирусной терапии и поздней госпитализацией. Заключение. Высокая заболеваемость, увеличение числа осложнений и неблагоприятных исходов определена доминированием вируса гриппа A / H1N1pdm09. Факторами, увеличивающими риск развития осложнений и летальных исходов, являются позднее обращение за медицинской помощью, отсутствие своевременной противовирусной терапии, сопутствующие заболевания
THE ROLE OF CMV INFECTION IN FORMATION OF PERINATAL PATHOLOGY
This article covers the issues of pathogenesis, diagnostics, clinical manifestations and treatment of CMV infections at perinatal infectio
Influence of the Epstein-Barr Virus Persistence upon the Development of the ImmuneMediated Somatic Diseases
The Epstein–Barr virus, which is persistent in the human organism throughout lifetime after the primary infection, is involved in the pathogenesis of a number of somatic chronic diseases. It is known that the virus successfully escapes the immune control, and has many mechanisms to regulate the components of immune system s as well. In our work, we summarized the current scientific data on the effect of the persistent Epstein-Barr virus on the function and quantity of T- and B-lymphocytes, NK cells, activity of the toll-like receptors, secretion of interleukins, interferons and other cytokines. The immunity dysfunction with the immunoactivation predominance leads to the formation of severe forms of chronic active Epstein–Barr virus infection such as the chronic mononucleosis, hemophagocytic lymphohistiocytosis. The immunosuppression is characteristic for the atypical course of the chronic active Epstein–Barr virus infection. The ability of some viral proteins to antigenic mimicry (that is, the homology of viral and human proteins) is the determining factor in the development of the chronic fatigue syndrome, multiple sclerosis and systemic lupus erythematosus. The Epstein–Barr virus is capable of the immortalization of the B-lymphocytes, including the autoaggressive ones, which leads to the formation of the chronic autoimmune diseases. Study of the development mechanisms of these diseases permits to develop the new, more effective, personalized prevention and treatment schemes, for example, using the targeting therapy
РОЛЬ ЦИТОМЕГАЛОВИРУСНОЙ ИНФЕКЦИИ В ФОРМИРОВАНИИ ПЕРИНАТАЛЬНОЙ ПАТОЛОГИИ
This article covers the issues of pathogenesis, diagnostics, clinical manifestations and treatment of CMV infections at perinatal infectionВ статье освещены вопросы патогенеза, диагностики, клинических проявлений и лечения цитомегаловирусной инфекции при перинатальном инфицировании
РОЛЬ ЦИТОМЕГАЛОВИРУСНОЙ ИНФЕКЦИИ В ФОРМИРОВАНИИ ПЕРИНАТАЛЬНОЙ ПАТОЛОГИИ
This article covers the issues of pathogenesis, diagnostics, clinical manifestations and treatment of CMV infections at perinatal infectionВ статье освещены вопросы патогенеза, диагностики, клинических проявлений и лечения цитомегаловирусной инфекции при перинатальном инфицировании.</p
Principles of the treatment of chronic Epstein–Barr virus infection and associated diseases
Epstein – Barr virus, related to herpes viruses, causes infectious mononucleosis during the initial infection; after recovery, the virus persists in the body throughout lifetime. The presence of clinical symptoms and viral load in a patient in 6 months after the infectious mononucleosis disease indicates the formation of chronic active Epstein – Barr viral infection. Hemophagocytic lymphohistiocytosis, posttransplantation lymphoproliferative disease and chronic fatigue syndrome, which has a polyetiological nature, are also associated with the activation of the persistent Epstein – Barr virus. Most of these diseases develop in children due to their physiological immunodeficiency and are accompanied by high mortality – up to 50%. Immune mechanisms, in addition to the virus itself, play a leading role in the pathogenesis of the diseases. The article summarizes all existing approaches to the treatment of chronic Epstein – Barr virus-associated diseases. The authors have analyzed the effectiveness of these approaches on the basis of various published studies. These diseases are treated with etiotropic antiviral drugs – nucleoside analogs, nonspecific immunotherapy, targeted therapy with monoclonal antibody preparations, immune cellular CD8+ therapy. In case of ineffectiveness of these methods, the alternative bone marrow transplantation is used. The article highlightes promising areas for the development of new approaches to the treatment of Epstein – Barr virus-associated diseases