Глутаровая ацидурия типа 1 у детей. Клиническое представление 46 случаев, диагностированных в России

Background. Glutaric aciduria type 1 is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the enzyme glutaryl‑CoA dehydrogenase. Metabolic crisis in type 1 glutaric aciduria is an acute life‑threatening condition that requires careful diagnosis with a number of other conditions and the immediate initiation of pathogenetic therapy.Materials and methods. Clinical manifestations, neuroimaging characteristics of the disease were studied in 46 patients with diagnosed glutaric aciduria type 1 confirmed by biochemical and molecular genetic methods. Methods: gas chromatography with mass spectrometry, tandem mass spectrometry, Sanger sequencing, chromosomal microarray analysis of the exon level.Results and discussion. A retrospective analysis of anamnestic and clinical data was carried out, and the nature and age of disease manifestation, provoking factors, a spectrum of clinical manifestations and neuroimaging data were assessed.Conclusion. How initiated treatment prevents progression of neurological symptom relief and patient adaptation. With the help of the goal, it is necessary to inform pediatricians, neurologists and neuroradiologists about this feature of the course of glutaric aciduria type 1 in order to increase the clinical alertness of this disease.Введение. Глутаровая ацидурия типа 1 – аутосомно‑рецессивное заболевание, обусловленное мутациями в гене GCDH, кодирующем фермент глутарил‑КоА дегидрогеназу. Метаболический криз при глутаровой ацидурии типа 1 – это острое жизнеугрожающее состояние, требующее тщательной дифференциальной диагностики с рядом других состояний и незамедлительного начала патогенетической терапии.Материалы и методы. Клинические проявления, нейровизуализационные характеристики болезни изучены у 46 пациентов с подтвержденным биохимическими и молекулярно‑генетическими методами диагнозом глутаровой ацидурии типа 1. Методы: газовая хроматография с масс‑спектрометрией, тандемная масс‑спектрометрия, секвенирование по Сэнгеру, хромосомный микроматричный анализ экзонного уровня.Результаты и обсуждение. Проведен ретроспективный анализ анамнестических данных, клинических, а также оценены характер и возраст манифестации болезни, провоцирующие факторы, спектр клинических проявлений и нейровизуализационные данные.Заключение. При отсутствии массового неонатального скрининга крайне важное значение имеет ранняя диагностика болезни, так как своевременно начатое лечение поможет предотвратить прогрессирование неврологической симптоматики и способствовать адаптации пациентов. С этой целью необходимо информировать врачей‑педиатров, неврологов и нейрорадиологов об особенностях протекания глутаровой ацидурии типа 1 для повышения клинической настороженности в отношении данного заболевания

Impact of COVID-19 on cardiovascular testing in the United States versus the rest of the world

Objectives: This study sought to quantify and compare the decline in volumes of cardiovascular procedures between the United States and non-US institutions during the early phase of the coronavirus disease-2019 (COVID-19) pandemic. Background: The COVID-19 pandemic has disrupted the care of many non-COVID-19 illnesses. Reductions in diagnostic cardiovascular testing around the world have led to concerns over the implications of reduced testing for cardiovascular disease (CVD) morbidity and mortality. Methods: Data were submitted to the INCAPS-COVID (International Atomic Energy Agency Non-Invasive Cardiology Protocols Study of COVID-19), a multinational registry comprising 909 institutions in 108 countries (including 155 facilities in 40 U.S. states), assessing the impact of the COVID-19 pandemic on volumes of diagnostic cardiovascular procedures. Data were obtained for April 2020 and compared with volumes of baseline procedures from March 2019. We compared laboratory characteristics, practices, and procedure volumes between U.S. and non-U.S. facilities and between U.S. geographic regions and identified factors associated with volume reduction in the United States. Results: Reductions in the volumes of procedures in the United States were similar to those in non-U.S. facilities (68% vs. 63%, respectively; p = 0.237), although U.S. facilities reported greater reductions in invasive coronary angiography (69% vs. 53%, respectively; p < 0.001). Significantly more U.S. facilities reported increased use of telehealth and patient screening measures than non-U.S. facilities, such as temperature checks, symptom screenings, and COVID-19 testing. Reductions in volumes of procedures differed between U.S. regions, with larger declines observed in the Northeast (76%) and Midwest (74%) than in the South (62%) and West (44%). Prevalence of COVID-19, staff redeployments, outpatient centers, and urban centers were associated with greater reductions in volume in U.S. facilities in a multivariable analysis. Conclusions: We observed marked reductions in U.S. cardiovascular testing in the early phase of the pandemic and significant variability between U.S. regions. The association between reductions of volumes and COVID-19 prevalence in the United States highlighted the need for proactive efforts to maintain access to cardiovascular testing in areas most affected by outbreaks of COVID-19 infection

Анализ первичной диагностики наследственных моторно-сенсорных нейропатий в Республике Башкортостан

Background. Hereditary motor and sensory neuropathies (HMSN, Charcot–Marie–Tooth disease) form genetically heterogenous and clinically polymorphic group of diseases which predominantly affect peripheral nervous system. Correct primary diagnostics of these diseases is a starting point for planning subsequent molecular and genetic diagnostics.Objective. Analysis of primary diagnostics of HMSN for subsequent improvement of specialized medical and genetic help for patients and their families.Materials and methods. We analyzed 260 primary diagnoses of patients referred to a neurogeneticist for consultation and registered in the Genetics Consultation Clinic with the diagnosis of HMSN between 1970 and 2016.Results. A total of 17 variants of referral diagnoses of patients with HMSN were identified. They can be divided into 3 subgroups: hereditary diseases of the nervous and neuromuscular systems, other diseases of the nervous system, diseases of other systems. A correct diagnosis was listed in a little more than half (58.1 %) of all cases of primary referrals. The most common (10.8 %) erroneous referral diagnosis of patients with HMSN was Friedreich’s ataxia. Most of erroneous referral diagnoses could be confidently ruled out at the stage of primary clinical diagnosis and after electroneuromyography. Altogether, in the observed period percentage of correct referral diagnoses increased while the specter of erroneous diagnoses decreased significantly which attests to increased doctors’ awareness of HMSN.Conclusion. In order to improve HMSN diagnostics doctors should pay more attention to analysis of family medical history and perform a clinical examination of all proband’s available relatives.Введение. Наследственные моторно-сенсорные нейропатии (НМСН, болезнь Шарко–Мари–Тута) – генетически гетерогенная и клинически полиморфная группа заболеваний с преимущественным поражением периферической нервной системы. Правильная первичная диагностика этих заболеваний является отправной точкой для планирования дальнейшей молекулярно-генетической диагностики.Цель исследования. Анализ первичной диагностики НМСН для дальнейшего совершенствования специализированной медико-генетической помощи пациентам и их семьям.Материалы и методы. Мы провели анализ 260 первичных диагнозов пациентов, направленных на консультацию к нейрогенетику и взятых на учет с диагнозом НМСН в Медико-генетической консультации за период с 1970 по 2016 г.Результаты. Всего зарегистрировано 17 вариантов направительных диагнозов пациентов с НМСН, которые были подразделены на 3 подгруппы: наследственные заболевания нервной и нервно-мышечной систем, другие заболевания нервной системы, заболевания других систем. Правильный диагноз был указан чуть более чем в половине (58,1 %) всех случаев первичных направлений. Самым частым (10,8 %) ошибочным направительным диагнозом пациентов с НМСН оказалась болезнь Фридрейха. Большинство ошибочных направительных диагнозов могло быть уверенно исключено на стадии первичной клинической диагностики или после проведения электронейромиографии. В целом за наблюдаемый период возрос процент правильных направительных диагнозов, а также существенно уменьшился спектр ошибочных диагнозов, что свидетельствует о повышении информированности врачей о НМСН.Заключение. Для дальнейшего улучшения диагностики НМСН практическим врачам необходимо уделять большее внимание анализу семейного анамнеза с клиническим осмотром всех доступных родственников пробанда

Impact of COVID-19 Pandemic on Cardiovascular Testing in Asia: The IAEA INCAPS-COVID Study

Background: The coronavirus disease-2019 (COVID-19) pandemic significantly affected management of cardiovascular disease around the world. The effect of the pandemic on volume of cardiovascular diagnostic procedures is not known. Objectives: This study sought to evaluate the effects of the early phase of the COVID-19 pandemic on cardiovascular diagnostic procedures and safety practices in Asia. Methods: The International Atomic Energy Agency conducted a worldwide survey to assess changes in cardiovascular procedure volume and safety practices caused by COVID-19. Testing volumes were reported for March 2020 and April 2020 and were compared to those from March 2019. Data from 180 centers across 33 Asian countries were grouped into 4 subregions for comparison. Results: Procedure volumes decreased by 47% from March 2019 to March 2020, showing recovery from March 2020 to April 2020 in Eastern Asia, particularly in China. The majority of centers cancelled outpatient activities and increased time per study. Practice changes included implementing physical distancing and restricting visitors. Although COVID testing was not commonly performed, it was conducted in one-third of facilities in Eastern Asia. The most severe reductions in procedure volumes were observed in lower-income countries, where volumes decreased 81% from March 2019 to April 2020. Conclusions: The COVID-19 pandemic in Asia caused significant reductions in cardiovascular diagnostic procedures, particularly in low-income countries. Further studies on effects of COVID-19 on cardiovascular outcomes and changes in care delivery are warranted

Impact of COVID-19 on the imaging diagnosis of cardiac disease in Europe

Objectives We aimed to explore the impact of the COVID-19 pandemic on cardiac diagnostic testing and practice and to assess its impact in different regions in Europe. Methods The online survey organised by the International Atomic Energy Agency Division of Human Health collected information on changes in cardiac imaging procedural volumes between March 2019 and March/April 2020. Data were collected from 909 centres in 108 countries. Results Centres in Northern and Southern Europe were more likely to cancel all outpatient activities compared with Western and Eastern Europe. There was a greater reduction in total procedure volumes in Europe compared with the rest of the world in March 2020 (45% vs 41%, p=0.003), with a more marked reduction in Southern Europe (58%), but by April 2020 this was similar in Europe and the rest of the world (69% vs 63%, p=0.261). Regional variations were apparent between imaging modalities, but the largest reductions were in Southern Europe for nearly all modalities. In March 2020, location in Southern Europe was the only independent predictor of the reduction in procedure volume. However, in April 2020, lower gross domestic product and higher COVID-19 deaths were the only independent predictors. Conclusion The first wave of the COVID-19 pandemic had a significant impact on care of patients with cardiac disease, with substantial regional variations in Europe. This has potential long-term implications for patients and plans are required to enable the diagnosis of non-COVID- 19 conditions during the ongoing pandemic