Association of acquired and congenital thrombophilic factors in a child with ischemic stroke

Author(s):  
К.А. Папаян ◽  
А.А. Шулятьева ◽  
А.С. Морозова ◽  
Е.А. Квапинская ◽  
О.А. Кузнецова

Введение. Тромбоз остается одной из ведущих причин летальности населения. В связи с этим остро стоит вопрос своевременной диагностики причин и анализа провоцирующих факторов возникновения тромботических событий, в особенности у детей с генетически детерминированной тромбофилией. Цель описания клинического случая: демонстрация роли мультифакторности генеза тромбоза в сочетании с патологическими состояниями, усиливающими гемостатическую активность крови в детском возрасте, для дальнейшего прогнозирования развития ребенка и определения методов профилактики рецидивов тромботических осложнений во взрослом возрасте. Результаты. Мальчик А., в возрасте 7 лет перенес острое нарушение мозгового кровообращения по ишемическому типу от 25.08.16, которому предшествовала ревакцинация корь-паротит-краснуха , острый гастроэнтерит с эксикозом II степени, токсикозом и длительным периодом иммобилизации в течение 2 нед. На момент тромботического события установлена гипергомоцистеинемия (10 мкмоль/л при референсных значениях возрастной нормы 3,05,0 мкмоль/л). При выполнении молекулярно-генетического исследования выявлено 5 гетерозиготных полиморфизмов минорного риска тромбоза (MTHFR, MTRR, PAI1, FGB, ITGA22). На момент последней госпитализации (февраль 2019 г.) обнаружено снижение эффективности работы системы естественных антикоагулянтов по результатам теста генерации тромбина, а также умеренное снижение активности антикоагулянта протеина С до 74 (при нижней границе нормы 75). Заключение. Мультифакторность тромбоза у детей предусматривает комплексный подход к диагностике и лечению, а также профилактике рецидивов тромботического события с обязательным контролем в динамике состояния системы гемостаза, уровня естественных антикоагулянтов и гомоцистеина. Introduction. Thrombosis remains one of the leading causes of mortality in the population. Thereby the timely diagnosis and analysis of the triggering factors of thrombotic events, especially in cases of genetically determined thrombophilia in children is acute question. Aim: to demonstrate the role of the multifactor genesis of thrombosis in combination with pathological conditions that enhanced blood hemostatic activity in childhood, for further prediction and prophylaxis of recurrence of thrombotic events in adulthood. Results. Patient A. had an ischemic stroke when he was 7 years old. It was preceded by rubeola-parotitis-rubella revaccination, acute gastroenteritis with degree II excision, toxicosis and a long period of immobilization for 2 weeks. Hyperhomocysteinemia was revealed (10 mol/L, reference values of the age norm are 3.05.0 mol/L) at the time of the thrombotic event. Molecular genetics study identified 5 heterozygous polymorphisms of a minor risk of thrombosis (MTHFR, MTRR, PAI1, FGB, ITGA22). At the date of last hospitalization (February 2019) decreased efficiency of anticoagulant system (according to the results of the thrombin generation assay) and moderate decreasing of protein C activity to 74 (with a lower normal limit of 75) were found. Conclusion. The multifactorial nature of thrombosis in children provides an integrated approach to the diagnosis, treatment and prophylaxis of recurrence of thrombotic events with monitoring of hemostasis, levels of natural anticoagulants and homocysteine.

2020 ◽  
Vol 3 (2) ◽  
pp. 144-150
Author(s):  
Manuela De Michele ◽  
Svetlana Lorenzano ◽  
Noemi Angelosanto ◽  
Alessandra Serrao ◽  
Luca Petraglia ◽  
...  

Background: Uncertainties remain about the role of common thrombophilia markers as determinants of the ischemic stroke (IS) risk. Polymorphism His1299Arg in the FV gene, named R2 haplotype (FVHR2), has been poorly investigated. The aim of the present study was to assess the prevalence of common thrombophilia markers and of FVHR2 in a cohort of IS patients compared to a nonmatched group of healthy individuals. Methods: We studied 156 consecutive patients survivors of a first ever IS and 124 healthy controls. All subjects were investigated for the gene polymorphisms factor V (FV) Leiden, prothrombin (PTH) G20210A, MTHFR C677T, and FVHR2. Protein C (PC), protein S (PS), antithrombin (ATIII), and lupus anticoagulant (LAC) activity was measured. Homocysteinemia was assessed within 48 hours and after 30 days from stroke onset. Univariate and multivariate analyses were performed. Results: Compared with controls, patients were significantly older (mean [SD] age, 50.5 [12.9] vs 37.5 [15.5] years, P < .001), less frequently females (48.1% vs 67.7%, P = .001) and had more frequently hyperhomocysteinemia (45.9% vs 11.0%) only in the acute phase (OR 6.899, CI 95% 2.993-15.899; P < .001). No differences were found in the prevalence of FV Leiden, PTH G20210A, and MTHFR C677T between patients and controls, whereas FVHR2 was present in 34/156 (22%) stroke patients and in 5/124 (4%) controls (OR 6.632, 95% CI 2.509-17.535, P < .001). In a multivariate logistic regression analysis, the FVHR2 resulted independently associated with the occurrence of IS (OR 6.071, 95% CI 1.762-20.923; P = .004). Conclusions: In our study, hyperhomocysteinemia was confirmed to be a transient consequence of the thrombotic event. FVHR2 seems to be a possible candidate prothrombotic condition related to arterial IS irrespective of age and sex in an Italian sample population.


Marine Drugs ◽  
2018 ◽  
Vol 16 (12) ◽  
pp. 516 ◽  
Author(s):  
Haifan Gong ◽  
Zhengwei Luo ◽  
Wenliang Chen ◽  
Zhong-Ping Feng ◽  
Guan-Lei Wang ◽  
...  

Xyloketal B is a natural compound isolated from the mangrove fungus, Xylaria sp. in the South China Sea. In the past decade, studies have shown that xyloketal B exhibits anti-oxidative, anti-inflammatory, and anti-apoptotic abilities and may serve as a treatment for ischemic stroke. Xyloketal B has been shown to interact with both neurons and residential microglial cells and regulate a number of proteins involved in the apoptotic events during ischemia. Such mechanisms include inhibition of specific NADPH oxidase subunits, upregulation of HO-1, increase of Bcl-1/Bax ratio, and downregulation of TLR4 receptor. Both in vitro and in vivo stroke models have validated its potential in preventing ischemia-induced neuronal cell death. This review summarizes our current understanding of the effects of xyloketal B in ischemic conditions. As stroke ranks second in the causes of mortality worldwide and still lacks effective treatment, it is necessary to seek novel therapeutic options. Understanding the role of xyloketal B in ischemic stroke could reveal a new aspect of stroke treatment.


Author(s):  
Katherine Guérard ◽  
Sébastien Tremblay

In serial memory for spatial information, some studies showed that recall performance suffers when the distance between successive locations increases relatively to the size of the display in which they are presented (the path length effect; e.g., Parmentier et al., 2005) but not when distance is increased by enlarging the size of the display (e.g., Smyth & Scholey, 1994). In the present study, we examined the effect of varying the absolute and relative distance between to-be-remembered items on memory for spatial information. We manipulated path length using small (15″) and large (64″) screens within the same design. In two experiments, we showed that distance was disruptive mainly when it is varied relatively to a fixed reference frame, though increasing the size of the display also had a small deleterious effect on recall. The insertion of a retention interval did not influence these effects, suggesting that rehearsal plays a minor role in mediating the effects of distance on serial spatial memory. We discuss the potential role of perceptual organization in light of the pattern of results.


2004 ◽  
Vol 35 (01) ◽  
Author(s):  
R Sträter ◽  
F Kirkham ◽  
G deVeber ◽  
A Chan ◽  
V Ganesan ◽  
...  

Diabetes ◽  
2018 ◽  
Vol 67 (Supplement 1) ◽  
pp. 2406-PUB
Author(s):  
KONSTANTINA KANELLOPOULOU ◽  
IOANNIS L. MATSOUKIS ◽  
ASIMINA GANOTOPOULOU ◽  
THEODORA ATHANASOPOULOU ◽  
CHRYSOULA TRIANTAFILLOPOULOU ◽  
...  

Author(s):  
Lidiya Derbenyova

The article explores the role of antropoetonyms in the reader’s “horizon of expectation” formation. As a kind of “text in the text”, antropoetonyms are concentrating a large amount of information on a minor part of the text, reflecting the main theme of the work. As a “text” this class of poetonyms performs a number of functions: transmission and storage of information, generation of new meanings, the function of “cultural memory”, which explains the readers’ “horizon of expectations”. In analyzing the context of the literary work we should consider the function of antropoetonyms in vertical context (the link between artistic and other texts, and the groundwork system of culture), as well as in the context of the horizontal one (times’ connection realized in the communication chain from the word to the text; the author’s intention). In this aspect, the role of antropoetonyms in the structure of the literary text is extremely significant because antropoetonyms convey an associative nature, generating a complex mechanism of allusions. It’s an open fact that they always transmit information about the preceding text and suggest a double decoding. On the one hand, the recipient decodes this information, on the other – accepts this as a sort of hidden, “secret” sense.


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