FRI-429-Impact of allelic variants of platelet receptors and coagulation system genes in the development of clinical manifestations of Wilson’s desease

2019 ◽  
Vol 70 (1) ◽  
pp. e582-e583
Author(s):  
Teona Rozina ◽  
Saglara Fastovets ◽  
Ekaterina Starostina ◽  
Larisa Samokhodskaya ◽  
Tatiana Krasnova
2020 ◽  
Vol 1 (1) ◽  
Author(s):  
Amged Hussein Abdelrhman ◽  
Abdelgadir Ahmed Abdelgadir

Background: Sickle cell disease refers to group of genetic disorder characterized by the predominance of hemoglobin S. Changes in the coagulation system seem to play an important role in the clinical manifestations of this disorder. Objective: This study aimed to determine the change in PT and APTT test in Sudanese pregnant women with sickle cell anemia. Material and methods: Fifty pregnant women with SCA with different age and different trimester, admitted to Mohammed Alamin Hamid hospital for children, were included case control study. Eleven healthy and pregnant women without SCA. Blood sample from three group were collected and investigated for PT and APTT. Results: The study revealed that in comparison with control mean PT (P=0.000) and APTT (p=0.000) high significant , in comparison with pregnant without SCA mean PT (P=0.000) and APTT (p=0.000) high significant ,no significant in comparison between all trimester mean PT (P=0.168) APTT (P=0.757) ,high significant in comparison with treatment mean PT(P=0,0000) APTT (P=0.000) ,in comparison with duration of disease and age mean PT(P=0.043) low significant with age APTT (P=0.558) no significant. Conclusion: The study concluded that these is hypercoagulable state in pregnant women with SCA indicated by prolongation in PT and APTT.


2014 ◽  
Vol 2014 ◽  
pp. 1-9 ◽  
Author(s):  
M. Carecchio ◽  
R. Cantello ◽  
C. Comi

Antiphospholipid syndrome (APS) is a multiorgan disease often affecting the central nervous system (CNS). Typically, neurological manifestations of APS include thrombosis of cerebral vessels leading to stroke and requiring prompt initiation of treatment with antiplatelet drugs or anticoagulant therapy. In these cases, alterations of the coagulation system at various levels caused by multiple effects of antiphospholipid antibodies (aPL) have been postulated to explain the vascular damage to the CNS in APS. However, several nonvascular neurological manifestations of APS have progressively emerged over the past years. Nonthrombotic, immune-mediated mechanisms altering physiological basal ganglia function have been recently suggested to play a central role in the pathogenesis of these manifestations that include, among others, movement disorders such as chorea and behavioral and cognitive alterations. Similar clinical manifestations have been described in other autoimmune CNS diseases such as anti-NMDAR and anti-VGCK encephalitis, suggesting that the spectrum of immune-mediated basal ganglia disorders is expanding, possibly sharing some pathophysiological mechanisms. In this review, we will focus on thrombotic and nonthrombotic neurological manifestations of APS with particular attention to immune-mediated actions of aPL on the vascular system and the basal ganglia.


2019 ◽  
Vol 22 (2) ◽  
pp. 37-42
Author(s):  
A Zarina ◽  
I Tolmane ◽  
Z Krumina ◽  
AI Tutane ◽  
L Gailite

AbstractWilson’s disease (WD) is a copper metabolism disorder, caused by allelic variants in the ATP7B gene. Wilson’s disease can be diagnosed by clinical symptoms, increased copper and decreased cerulopasmin levels, which could all also be by other genetic variants beyond the ATP7B gene, e.g., disturbed ceruloplasmin biosynthesis can be caused by pathogenic allelic variants of the CP gene. Copper metabolism in the organism is affected by several molecules, but pathogenic variants and related phenotypes are described with COMMD1 and ATOX1 genes. The aim of the study was to test other genes, CP, ATOX1 and COMMD1, for possible influence to the manifestation of WD. Patients were enrolled on the basis of Leipzig’s diagnostic criteria, 64 unrelated patients with confirmed WD. Direct sequencing of promoter region of the CP gene and ATOX1 and COMMD1 gene exons was conducted. Statistically significant differences were found between the two variants in the CP gene and the ATP7B genotype (rs66508328 variant AA genotype and the rs11708215 variant GG genotype) were more common in WD patients with an unconfirmed ATP7B genotype. One allelic (intronic) variant was found in the ATOX1 gene without causing the functional changes of the gene. Three allelic variants were identified in the COMMD1 gene. No statistically significant differences were found between allele and genotype frequencies and the first clinical manifestations of WD. Different variants of the CP gene contributed to a WD-like phenotype in clinically confirmed WD patients with neurological symptoms and without identified pathogenic variants in the ATP7B gene. Allelic variants in the ATOX1 and COMMD1 genes do not modify the clinical manifestation of WD in Latvian patients. (266 words)


2018 ◽  
Vol 24 (5) ◽  
pp. 628-640 ◽  
Author(s):  
Lukasz Milanowski ◽  
Fazila Rasul ◽  
Sylwia Natalia Gajda ◽  
Ceren Eyileten ◽  
Jolanta Siller-Matula ◽  
...  

Background: Platelet hyperactivity has been implicated in many cardiovascular (CV) events such as ischemic stroke, myocardial infarction and CV death. Genetic variability of platelet receptors has been shown to impact Src family kinases (SFKs) activation and in turn influence platelet activation. SFKs are important signal transmitters in platelets, interacting with several receptors as GPIIB/IIIa, GPIb, PEAR 1, GPIa, GPVI, PECAM and CD148. Methods: In this review, we focused on genetic variants of platelet receptors whose signals are transmitted mainly by SFKs and may be associated with clinical manifestations of platelet hyperactivation like MI or IS. Results: The genetic variants of platelet receptors, the signals of which are transmitted by SFKs, and the associated clinical manifestations in platelet hyperactivation, have been examined. The most extensively studied receptors were glycoprotein polymorphisms. The greatest numbers of genetic variants were analyzed in GPIb. GPIIb/IIIa receptor polymorphisms were also well analyzed and many studies highlighted their associations with ischemic stroke (IS) and myocardial infarction (MI). However, there are a number of conflicting studies finding that GPIIb/IIIa receptor polymorphisms may not influence platelet hyperactivity. Moreover, variability within some other receptors like GPVI, PECAM, PEAR1, and CD148 was analyzed only in single studies. Conclusions: Src family kinases are one of the most important signal transmitters in platelets. Some receptors have well documented interactions with SFKs, while other have not been examined in humans or data about its association originated from single studies. Further studies are necessary to confirm the findings and reduce falsepositive associations.


Author(s):  
Дмитрий Валериевич Судаков ◽  
Евгений Владимирович Белов ◽  
Артём Николаевич Шевцов ◽  
Елена Васильевна Богачева ◽  
Данаил Красимирович Назлиев

В статье проводится анализ случаев тромбоза большой подкожной вены (БПВ) при случайном их выявлении в условиях приемного отделения многопрофильного стационара. Данная тематика является весьма актуальной, так как в России и в мире наблюдается ежегодный рост заболеваний венозной системы и тромбозов в частности. Также во всем мире отмечается определенная тенденция - омоложение патологии сердечно-сосудистой системы. Это в полной мере касается и тромбозов. Малоподвижный образ жизни, вредные привычки, ожирение и многие другие факторы приводят к тому, что венозные тромбозы встречаются уже в молодом возрасте. Целью работы стала попытка проанализировать различные варианты случаев тромбоза БПВ, включая спонтанно выявленные на уровне приемного отделения областного стационара. Объектами исследования послужили 90 пациентов, мужчин и женщин, с диагнозом «тромбоз БПВ». Все пациенты были разделены на 3 группы по 30 пациентов. В первую группу вошли пациенты, у которых «тромбоз БПВ» выявлялся случайно. Вторую группу составили пациенты с уже выявленным тромбозом, не угрожающим жизни, направленные на плановое оперативное лечение. В третью группу вошли пациентки, уже имеющие в анамнезе опыт малоинвазивного хирургического лечения венозной системы. В исследовании проводился подробный сравнительный анализ показателей общего анализа крови, включая свертывающую систему и уровень Д-Димера. Было установлено, что для пациентов 1 группы был характерен более выраженный воспалительный процесс с более высоким показателем Д-Димера. Также в работе изучались основные клинические проявления и определялось наличие факторов риска развития тромбоза БПВ. Было замечено, что среди пациентов 1 группы, в отличии от 2 и 3, большинство симптомов были слабее выражены и встречались реже. Были определены и некоторые закономерности в уровне поражения, в зависимости от исследуемой группы. Данная работа представляет определенный интерес для врачей практического звена - хирургов и сосудистых хирургов, а также для врачей первичного звена - участковых терапевтов The article analyzes the cases of thrombosis of the great saphenous vein (BPV) in case of their accidental detection in the emergency department of a multidisciplinary hospital. This topic is very relevant, since in Russia and in the world there is an annual increase in diseases of the venous system and thrombosis in particular. Also, around the world there is a certain trend-rejuvenation of the pathology of the cardiovascular system. This fully applies to thrombosis. A sedentary lifestyle, bad habits, obesity and many other factors lead to the fact that venous thrombosis occurs even at a young age. The aim of the work was an attempt to analyze various variants of cases of BPV thrombosis, including spontaneously detected at the level of the admission department of the regional hospital. The objects of the study were 90 patients, men and women, with a diagnosis of “thrombosis of BPV”. All patients were divided into 3 groups of 30 patients. The first group included patients in whom "BPV thrombosis" was detected by chance. The second group consisted of patients with already identified life-threatening thrombosis, aimed at planned surgical treatment. The third group included patients who already had a history of minimally invasive surgical treatment of the venous system. The study conducted a detailed comparative analysis of the parameters of a general blood test, including the coagulation system and the level of D-dimer. It was found that patients of group 1 were characterized by a more pronounced inflammatory process with a higher D-Dimer score. Also, the main clinical manifestations were studied and the presence of risk factors for the development of thrombosis of BPV was determined. It was noted that among patients of group 1, in contrast to 2 and 3, most of the symptoms were weaker and less common. Some patterns were also determined in the level of damage, depending on the study group. This work is of particular interest for practitioners - surgeons and vascular surgeons, as well as for primary care physicians - district physicians


2020 ◽  
pp. 306-308
Author(s):  
V.I. Chernii

Background. Infusion therapy (IT) is one of the main methods of drug therapy optimization. The essence of IT is to correct homeostasis disorders in order to detoxify, to restore the disrupted microcirculation and tissue perfusion, to eliminate the disorders of rheological and coagulation blood properties, to eliminate metabolic disorders, to improve drug delivery to the pathological focus, to restore circulating blood volume, to normalize fluid and electrolyte and acid-base balance. Objective. To describe modern IT. Materials and methods. Analysis of the literature sources on this topic. Results and discussion. Requirements for modern plasma substitutes include safety, sufficient and long-lasting volemic effect, rapid renal excretion, lack of accumulation and effect on the coagulation system, maximum similarity to blood plasma, and availability. There are several classes of plasma substitutes, and each of them has its own indications. For example, crystalloids are prescribed for dehydration, and colloids – for hypovolemia. The infusion volume is calculated based on the physiological needs of the organism, taking into account pathological fluid loss (fever, shortness of breath, postoperative wound drainage, vomiting, polyuria). Endogenous intoxication (EI) – a pathological condition that occurs as a result of exposure to toxic substances of exogenous or endogenous nature, which cause dysfunction and the development of extreme conditions – is an important field of IT application. EI can accompany chronic heart failure, peripheral vessels atherosclerosis, autoimmune and allergic diseases. Toxins have a direct (direct destruction of proteins and lipids, blocking of synthetic and oxidative processes in the cell) and indirect (microcirculation system and vascular tone disorders, changes of blood rheological properties) adverse effects. Clinical manifestations of EI include fever, malaise, and the dysfunction of various internal organs. As EI depletes the natural mechanisms of detoxification, worsens the clinical course of the disease, reduces drug sensitivity, suppresses immunity, it is an indication to detoxification via infusion. The tasks of the latter are to improve tissue perfusion, to provide hemodilution with a decrease in the toxins’ concentration, to stimulate diuresis, to eliminate acidosis, and to maintain the functional state of hepatocytes. For this purpose, solutions of polyatomic alcohols (Reosorbilact, Xylate, “Yuria-Pharm”) can be used. Reosorbilact increases the circulating blood volume, improves microcirculation and rheological blood properties, increases tissue perfusion, promotes “wash-out” of toxins, corrects acidosis and fluid and electrolyte balance, normalizes hepatocyte function, improving the own detoxification mechanisms. In case of microcirculation disturbances, it is reasonable to use the combined IT with the inclusion of Reosorbilact, Latren and Tivortin (“Yuria-Pharm”). Latren increases the elasticity of erythrocytes, reduces the aggregation of erythrocytes and platelets, normalizes the electrolyte composition of blood plasma, and Tivortin acts as a substrate for the formation of nitric oxide – the main signaling molecule of the endothelium. In addition to EI, IT usage is often prescribed for diabetic ketoacidosis. In such cases, it is advisable to use Xylate (“Yuria-Pharm”), which has antiketogenic properties, improves hemodynamics, corrects acidosis, and does not increase blood glucose levels. Xylate is recommended to be used only after preliminary rehydration with the help of isotonic saline solutions. Conclusions. 1. IT is an important method of treating a number of diseases. 2. EI accompanies not only diseases that involve intoxication syndrome, but also almost all internal diseases. 3. Reosorbilact and Xylate are the optimal solutions for detoxification. 4. It is reasonable to use combined IT, for example, the combination of Reosorbilact with Latren and Tivortin.


2020 ◽  
Vol 17 (3) ◽  
pp. 101-108
Author(s):  
A. V. Kuligin ◽  
A. V. Lushnikov ◽  
E. E. Zeulina

Massive obstetric hemorrhage is one of the most threatening complications of pregnancy, delivery and early postpartum period, which are part of the triad of leading causes of maternal mortality both in the world and in the Russian Federation. In recent years, to stop coagulopathy, which is one of the clinical manifestations of massive obstetric hemorrhage, recombinant and plasma factors of the blood coagulation system are successfully used, which include a concentrate of prothrombin complex and activated coagulation factor VII (eptacog alfa activated). The authors present results of successful consistent use of the blood coagulation system factors within comprehensive intensive care of coagulopathy in a patient with massive obstetric hemorrhage.


2020 ◽  
Vol 5 (3) ◽  
pp. 41-45
Author(s):  
G. G. Yushkov ◽  
V. V. Igumenshcheva ◽  
A. R. Krasnova

Background. Despite the available information on the clinical manifestations of acute and chronic intoxication with boron compounds, no clear evidence was found among studies to research the effect of boron compounds with different chemical structures on key factors of the blood coagulation system. The data are presented in full for the first time. Aim of the study. Identification of possible signs of the effect of boron compounds on selected indicators of hemostasis in laboratory animals and their characteristics depending on the chemical structure of the compounds. Methods. Modern methods of studying hemostasis are used. Nonlinear rats were chosen as the experimental biological model. Once through the mouth, in the maximum tolerated dose, the following drugs were administered: isopropylmethacarborane, 1,2-di(oxymethyl)orthocarborane, 1,7-di(oxymethyl)methacarborane, polyethylammonium triethylammonium salt, boric acid. Research conducted against a background of dynamic control. Results. Materials were obtained that testify to the effect of boron compounds under the conditions of this experiment on factors of the blood coagulation system. The differences in this effect are established in connection with the chemical structure of the compounds, which are especially pronounced after the introduction of methacarboranes. The effect of orthocarborane and the polyethylammonium triethylammonium salt on factors was less significant. An important fact is that boric acid per se, by its effect on the blood coagulation system, turned out to be less effective than other compared compounds. Conclusion. The polytropy of the toxic effect of boron compounds of different chemical structures was confirmed, including with the involvement of the blood coagulation system, but with the essential features of each of them under conditions of a single exposure to laboratory animals in the maximum tolerated dose.


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