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Hemorrhagic thrombocytopathy with defective signal transduction CalDAG-GEFI is a rare disease associated with a mutation in the RASGRP2 gene. At the moment, this disease is described in 10 person in the world. We present clinical case report of this pathology of a 9-year-old child. We also offer a review of the available literature about pathogenetic features, clinical manifestations and prevalence of this rare disease. The patient’s parents gave their consent to the use of their child’s data, including photographs, for research purposes and in publications.

Objectives Thromboinflammation, resulting from a complex interaction between thrombocytopathy, coagulopathy, and endotheliopathy, contributes to increased mortality in COVID-19 patients. MR-proADM, as a surrogate of adrenomedullin system disruption, leading to endothelial damage, has been reported as a promising biomarker for short-term prognosis. We evaluated the role of MR-proADM in the mid-term mortality in COVID-19 patients. Methods A prospective, observational study enrolling COVID-19 patients from August to October 2020. A blood sample for laboratory test analysis was drawn on arrival in the emergency department. The primary endpoint was 90-day mortality. The area under the curve (AUC) and Cox regression analyses were used to assess discriminatory ability and association with the endpoint. Results A total of 359 patients were enrolled, and the 90-day mortality rate was 8.9%. ROC AUC for MR-proADM predicting 90-day mortality was 0.832. An optimal cutoff of 0.80 nmol/L showed a sensitivity of 96.9% and a specificity of 58.4%, with a negative predictive value of 99.5%. Circulating MR-proADM levels (inverse transformed), after adjusting by a propensity score including eleven potential confounders, were an independent predictor of 90-day mortality (HR: 0.162 [95% CI: 0.043-0.480]) Conclusions Our data confirm that MR-proADM has a role in the mid-term prognosis of COVID-19 patients and might assist physicians with risk stratification.

The aim of this study is to investigate the differences in hemostasiological parameters among patients with atherotrombotic and cardiemobolic subtypes of ischemic stroke and the relationship between the parameters and the severity of the disease in the first day. The study included 68 patients who were examined on the first day of the disease with a diagnosis of acute cerebrovascular disorders on ischemic type, among them 47 (69%) men and 21 (31%) women aged from 42 to 75 years (the average age was 61,85 ± 2,33 years old). We quantified the stroke severity by using the National Institutes of Health Stroke Scale, findings of magnetic resonance tomography and / or computer tomography of the brain; ultrasound scan of intra- and extracranial vessels of the brain was performed to verify the diagnosis. Patients were divided into 2 groups: Group 1 included atherotrombotic subtype of ischemic stroke (n = 51 individuals), group 2 included cardiembolic subtype of ischemic stroke (n = 17 individuals. The state of the hemostasis system was studied by the analysis of complete coagulograms. The patients with ischemic stroke were found to have a thrombin time reduction compared to the control group. The dynamics of this indicator in the coagulogram points out an increased risk of thrombosis in the patients of both groups with a significant predominance among the patients with an atherotrombotic stroke. In both groups of the patients with ischemic stroke, there was a decrease in intensity, time and rate of aggregation in 30 seconds compared to the control group, indicating the imbalance of platelet response to adenosine diphosphate-induced aggregation. When the rate and intensity of aggregation (the lowering of platelet aggregation function) for 30 seconds decreased, the aggregation time (the activation of platelet function) also reduced. The analysis of coagulogram indicators points out the possibility of developing the syndrome of disseminated intravascular coagulation among patients with ischemic stroke. In this case, the decrease in the platelet aggregation properties indicates the development of thrombocytopathy under a preserved platelet number among the patients with ischemic stroke. The degree of the severity of atherotrombotic ischemic stroke is associated with indicators of coagulation hemostasis and platelet aggregation characteristics. The severity of cardioembolic ischemic stroke is associated with processes of platelet aggregation processes.

Pembrolizumab belongs to so called immune checkpoint inhibitors. Frequent adverse event of this therapy is hypothyroidism. The authors present a case report of patient treated with pembrolizumab for non-small cell lung carcinoma, in whom severe hypothyroidism followed quite rapidly after transient phase of subclinical hyperthyroidism - at this time point new and spontaneous onset of large subcutaneous hematomas was observed. Acquired von Willebrand syndrome, acquired hemophilia A, dysfibrinogenemia, activation of fibrinolysis and thrombocytopathy were all actively ruled out in hematological differential diagnosis. Concomittantly, laboratory markers of secondary autoimmune disease and myositis were excluded. Despite continuous pembrolizumab treatment, there were no other bleeding complications seen after intensification of endocrine substitution therapy with thyroid hormones. Causal relationship between subcutaneous hematomas and severe drug-induced hypothyroidism is established per exclusionem.

Introduction:The year 2020 was defined by the 29,903 base pairs of RNA that codes for the SARS-CoV-2 genome. SARS-CoV-2 infects humans to cause COVID-19, spreading from patient-to-patient yet impacts patients very divergently. Areas covered: Within this review, we address the known molecular mechanisms and supporting data for COVID-19 clinical course and pathology, clinical risk factors and molecular signatures, therapeutics of severe COVID-19, and reinfection/vaccination. Literature and published datasets were reviewed using PubMed, Google Scholar, and NCBI SRA tools. The combination of exaggerated cytokine signaling, pneumonia, NETosis, pyroptosis, thrombocytopathy, endotheliopathy, multiple organ dysfunction syndrome (MODS), and acute respiratory distress syndrome (ARDS) create a positive feedback loop of severe damage in patients with COVID-19 that impacts the entire body and may persist for months following infection. Understanding the molecular pathways of severe COVID-19 opens the door for novel therapeutic design. We summarize the current insights into pathology, risk factors, secondary infections, genetics, omics, and drugs being tested to treat severe COVID-19. Expert opinion: A growing level of support suggests the need for stronger integration of biomarkers and precision medicine to guide treatment strategies of severe COVID-19, where each patient has unique outcomes and thus require guided treatment.

Thromboxane A2 receptor deficiency is a qualitative platelet disorder that partially impedes adequate platelet signaling and aggregation. Generally, these patients have mild hemorrhagic manifestations in basal conditions, but may show severe bleeding when faced with a hemostatic challenge. We present the case of a 30-year-old female patient that arrives at the Hematology service with an undiagnosed bleeding disorder. She presented hemorrhagic complications during an augmentation mammoplasty and during an exodontia procedure, yet, during a C-section she presented none. At the first consultation she had normal coagulation factor levels by coagulometry, and normal platelet aggregation test for ADP, ristocetin, collagen and epinephrine. A platelet aggregation test for arachidonic acid confirmed thromboxane A2 deficit disorder. Thromboxane A2 deficit disorder is a rare qualitative platelet disorder that requires an extensive knowledge of coagulation and platelet function and tests, and a high level of clinical suspicion. These tests are especially difficult to interpret during pregnancy due to normal modifications to bodily function during this process.

Thrombocytopenia, which signifies a low platelet count usually below 150 × 109/L, is a common finding following or during many viral infections. In clinical medicine, mild thrombocy-topenia, combined with lymphopenia in a patient with signs and symptoms of an infectious disease, raises the suspicion of a viral infection. This phenomenon is classically attributed to platelet con-sumption due to inflammation-induced coagulation, sequestration from the circulation by phago-cytosis and hypersplenism, and impaired platelet production due to defective megakaryopoiesis or cytokine-induced myelosuppression. All these mechanisms, while plausible and supported by sub-stantial evidence, regard platelets as passive bystanders during viral infection. However, platelets are increasingly recognized as active players in the (antiviral) immune response and have been shown to interact with cells of the innate and adaptive immune system as well as directly with viruses. These findings can be of interest both for understanding the pathogenesis of viral infectious diseases and predicting outcome. In this review, we will summarize and discuss the literature cur-rently available on various mechanisms within the relationship between thrombocytopenia and virus infections.

Introduction: Light transmission aggregometry (LTA) is the gold standard for diagnosing bleeding disorders. Although LTA is laborious, requires large volumes of blood and is relatively insensitive to small changes in platelet function, there is still no competing alternative approach to replace LTA for the diagnosis of platelet bleeding disorders.Materials and methods: This study investigates the correlation between flow cytometry-based whole blood platelet activation test (WB-PACT) and LTA and whether WB-PACT is of additional value for the identification of bleeding disorders. In total, 161 patients with suspected bleeding diathesis were tested.Results: A correlation of 0.41 between LTA and WB-PACT was found, and there was agreement between tests in 62% of cases (kappa = 0.23). The WB-PACT is of additional value to LTA to detect platelet function disorders (PFD) as 10 patients with elevated bleeding score (BS) were detected with WB-PACT, 4 with LTA and 7 patients were positive with both tests. Interestingly, in contrast to LTA, WB-PACT has an additional option to detect VWF disfunctions.Conclusion: WB-PACT may have added value for the routine diagnostic work-up in patients who need to have platelet function tested.

Relevance: Hematomesenchymal dysplasia (HMD), as a background pathology in recurrent clotting disorders, is reported with a frequency of 54.9% and manifests as combined and concomitant forms in 45.1% of patients, undifferentiated forms in 22.1%, and differentiated forms in 9.8% as Marfan, Ehlers-Danlos, Whrolick-Lobstein, Franceschetti syndrome, etc. Hemorrhagic disorders are one of the obligate syndromes of HMD, characterized by an early onset and recurrent course, and the nosological structure is quite heterogeneous, due to genetic defects in various parts of the hemostatic system. Angiopathies were detected in 12.3% of patients, thrombocytopathies - 25.5%, Willebrand syndrome (disease) - 11.5%, hemophilia - 4.3%, their combinations - 45.1%, 1.3% had latent (asymptomatic) defects [24]. Aim: To review the literature on disorders of the primary hemostasis in hematomesenchymal dysplasia. Search strategy: Sources were searched in the following databases: UpToDate, BMJ, PubMed, Scopus, Wiley, Medline, The Cochrane Library, Springer Link, Web of Science. The depth of the search was 18 years: from 2004 to 2022. Thirty-one articles were included in the literature review, which were available in full text and underwent a critical appraisal process. Algorithm for selecting literary resources → Study of clinical guidelines, monographs reporting the concept of undifferentiated connective tissue dysplasia, mesenchymal dysplasia syndrome, hematomesenchymal dysplasia, joint hypermobility syndrome → Review of articles from journals, academic journals, dissertations → Systematization of the material → Literature analysis and article writing. Results and conclusions: The problem of hemostasis disorders in HMD is understudied and requires more attention to cover this narrow field of hematology as variants of the clinical picture is various and the most life-threatening complications are both profuse bleeding and thrombophilic manifestations [24]., Актуальность: Гематомезенхимальная дисплазия (ГМД), как фоновая патология при рецидивирующих нарушениях свертывания крови, регистрируется с частотой 54,9% и проявляется как комбинированными и сочетанными вариантами у 45,1% пациентов, недифференцированными формами – у 22,1%, так и дифференцированными - у 9,8% в виде синдромов Марфана, Элерса-Данлоса, Вролика-Лобштейна, Франческетти и др. Геморрагические расстройства являются одним из облигатных синдромов ГМД, характеризуются ранним дебютом и рецидивирующим течением и по нозологической структуре весьма неоднородны, что обусловлено генетическими дефектами в различных звеньях системы гемостаза. Ангиопатии обнаруживаются у 12,3% пациентов, тромбоцитопатии – 25,5%, синдром (болезнь) Виллебранда – 11,5%, гемофилия – 4,3%, их комбинации – 45,1%, у 1,3% - скрытые (бессимптомные) дефекты [24]. Цель: обзор литературных ресурсов по нарушениям тромбоцитарного звена системы гемостаза при гематомезенхимальной дисплазии. Стратегия поиска: Поиск источников проводился в базах: UpToDate, BMJ, PubMed, Scopus, Wiley, Medline, The Сochrane Library, SpringerLink, Web of Science. Глубина поиска составила 18 лет: с 2004 по 2022 годы. В обзор литературы были включены 31 статья, которые были доступны в виде полного текста и прошли критический процесс оценки. Алгоритм отбора литературных ресурсов → Изучение руководств, монографий, отражающих концепцию недифференцированной дисплазии соединительной ткани, синдрома мезенхимальной дисплазии, гематомезенхимальной дисплазии, синдрома гипермобильности суставов → Изучение статей из журналов, научных сборников, диссертаций → Систематизация материала → Анализ литературы и написание статьи. Результаты и выводы:Проблема гемостазиологических расстройств при ГМД недостаточно изучена и требует большего внимания с целью освещения данной узконаправленной области гематологии, так как варианты клинической картины разнообразны и наиболее жизнеугрожающими осложнениями являются как профузные кровотечения, так и тромбофиллические проявления [24]., Кіріспе:Гематомезенхималық дисплазия(ГМД) қайталанатын қан ұюының бұзылуларындағы фондық патология ретінде 54,9% жиілікпен тіркеледі және пациенттердің45,1%-ында біріктірілген және ілеспе формалар, 22,1%-да бөлінбеген формалар және 9,8% - да сараланған формалар түрінде Марфан, Элерс-Данлос, Вролик-Лобштейн, Франческетти және т.б. геморрагиялық бұзылулар ГMD облигациялық синдромдарының бірі болып табылады. басталу және қайталанатын курс, ал нозологиялық құрылым гетерогенді, бұл гемостаз жүйесінің әртүрлі бөліктеріндегі генетикалық ақауларға байланысты. Ангиопатиялар науқастардың 12,3% - да, тромбоцитопатиялар - 25,5% - да, Виллебранд синдромы (ауру) - 11,5% - да, гемофилия - 4,3% - да, олардың комбинациясы - 45,1% - да, 1,3% - да жасырын (асимптоматикалық) ақаулар бар [24]. Мақсаты: гематомезенхимальды дисплазиядағы гемостаз жүйесінің бұзылуы туралы әдебиеттік шолу. Іздеу стратегиясы: дереккөздер келесі мәліметтер базасынан табылды: Up To Date, BMJ, Pub Med, Scopus, Wiley, Medline, Cochrane кітапханасы, Springer Link, Web of Science. Іздеу тереңдігі 18 жыл болды: 2004 жылдан 2022 жылға дейін. Әдебиеттерге шолу толық мәтінде қол жетімді және сыни бағалаудан өткен отыз бір мақаланы қамтыды. Әдеби ресурстарды таңдау алгоритмі → Дәнекер тінінің бөлінбеген дисплазиясы, мезенхималық дисплазия синдромы, гематомезенхималық дисплазия, буындардың гипермобилділік синдромы туралы түсініктерді, монографияларды зерттеу → Журналдардан, ғылыми жинақтардан, диссертациялардан мақалаларды зерттеу → Материалды жүйелеу → Әдебиеттерді талдау және мақала жазу. Нәтижелер мен қорытындылар: ГМД гемостазының бұзылуы мәселесі жеткілікті түрде зерттелмеген және гематологияның осы тар аймағын қамтуға көп көңіл бөлуді қажет етеді, өйткені клиникалық көріністің нұсқалары әртүрлі және өмірге қауіпті асқынулар-бұл ауыр қан кету және тромбофильді көріністер[24]., Наука и здравоохранение, Выпуск 5 (24) 2022, Pages 157-165

INTRODUCTION/OBJECTIVES: Glanzmann thrombasthenia(GT) is a rare inherited thrombocytopathy characterized by insufficient platelet aggregation and normal platelet count. The genetic molecular feature of GT is deficiency or dysfunction of the platelet integrin αIIbβ3(CD41/CD61) receptor for fi- brinogen, resulting in bleeding episodes of varying severity. In general, the presence of mucocutaneous bleeding and a normal platelet count raise the suspicion of this disorder. We report a case of gastrointestinal (GI) bleeding in a patient with GT.

Coagulopathy is an evident complication of COVID-19 with predominance of a prothrombotic state. Platelet activation plays a key role. The terms "hyper-reactivity" and "hyperactivity" used in recent literature may not be clear or sufficient to explain the pathological events involved in COVID-related thrombosis (CRT). Inflammation may play a bigger role compared to thrombosis in COVID-related mortality because a smaller percentage of patients with COVID-19 die due to direct effects of thrombosis. Not all COVID-19 patients have thrombocytopenia and a few show thrombocytosis. We believe the platelet pathology is more complex than just activation or hyper-activation, particularly due to the platelets' role in inflammation. Understanding the pathology and consequences of platelets' role may help optimize management strategies and diminish CRT-associated morbidity and mortality. In this viewpoint report, we examine the published evidence of platelet hyper-reactivity in COVID-19 with a focused analysis of the key pathologies, diverse alterations, disease outcomes, and therapeutic targets. We believe that COVID-19 is a disease of inflammation and pathologic platelets, and based on the complexity and diverse pathologies, we propose the term "thrombocytopathy" as a more reflective term of the platelets' involvement in COVID-19. In our opinion, thrombocytopathy is the unpredictable pathologic alterations of platelets in function, morphology and number, caused by different factors with a variety of presentations.

Background: Patients with congenital blood platelet disorders (CPDs) demonstrate a predominantly mucocutaneous bleeding tendency. Repeated bleeds throughout life can have a significant impact on health status-related quality of life (HR-QoL), but few studies have investigated HR-QoL in patients with CPDs.Objectives: To determine HR-QoL in patients with suspected or confirmed CPDs as compared with the general Dutch population and to assess the association between bleeding phenotype and HR-QoL.Methods: Data were derived from the Thrombocytopathy in the Netherlands (TiN) study, a cross-sectional study of individuals suspected for a congenital platelet defect. TiN patients with an increased ISTH Bleeding Assessment Tool (ISTH-BAT) score (>3 in men and > 5 in women) were included for analysis. HR-QoL was assessed with the Short Form (SF)-36 survey. Bleeding symptoms were evaluated with the ISTH-BAT, resulting in a bleeding score.Results: One hundred fifty-six patients were analyzed, of whom 126 (81%) were women. Sixty-two patients (40%) had a confirmed CPD. Compared to the general Dutch population, patients with a suspected or confirmed CPD reported decreased physical functioning, limitations in daily activities due to physical health problems, limitations in social activities, decreased energy levels and fatigue, pain, and lower general health status. HR-QoL was not correlated with the ISTH-BAT score and was similar in patients with a confirmed CPD and those in whom a CPD could not be diagnosed.Conclusion: A bleeding tendency in patients with a suspected or confirmed CPD significantly impacts HR-QoL, independent of a confirmed explanatory diagnosis.

Background The mechanisms of trauma induced coagulopathy (TIC) are considered multifactorial. Amongst others, however, shedding of the endothelial glycocalyx resulting in increased concentrations of glycocalyx fragments in plasma might also play a role. Thus, we hypothesized that shedded glycocalyx components affect coagulation and may act as humoral mediators of TIC. Methods To investigate effects of heparan sulfate, chondroitin sulfate, syndecan-1, versican, and thrombomodulin we added these fragments to in vitro assays of whole blood from healthy volunteers to yield concentrations observed in trauma patients. Platelet function, whole blood coagulation, and fibrinolysis were measured by standard coagulation tests, impedance aggregometry (IA), and viscoelastic tests (VET). To assess dose-response relationships, we performed IA with increasing concentrations of versican and VET with increasing concentrations of thrombomodulin. Results Intrinsically activated clotting times (i.e., activated partial thromboplastin time and intrinsically activated VET with and without heparinase) were unaffected by any glycocalyx fragment. Thrombomodulin, however, significantly and dose-dependently diminished fibrinolysis as assessed by VET with exogenously added rt-PA, and increased rt-PA-induced lysis Indices after 30 (up to 108% of control, p p p p p p p = 0,024), chondroitin sulfate (− 11,6%, p = 0,016), versican (− 13%, p = 0,012%), and when combined (− 7,2%, p = 0,007). Conclusions Glycocalyx components exert distinct inhibitory effects on platelet function, coagulation, and fibrinolysis. These data do not support a ‘heparin-like auto-anticoagulation’ by shed glycosaminoglycans but suggest a possible role of versican in trauma-induced thrombocytopathy and of thrombomodulin in trauma-associated impairment of endogenous fibrinolysis.

The core pathology of coronavirus disease 2019 (COVID-19) is infection of airway cells by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) that results in excessive inflammation and respiratory disease, with cytokine storm and acute respiratory distress syndrome implicated in the most severe cases. Thrombotic complications are a major cause of morbidity and mortality in patients with COVID-19. Patients with pre-existing cardiovascular disease and/or traditional cardiovascular risk factors, including obesity, diabetes mellitus, hypertension and advanced age, are at the highest risk of death from COVID-19. In this Review, we summarize new lines of evidence that point to both platelet and endothelial dysfunction as essential components of COVID-19 pathology and describe the mechanisms that might account for the contribution of cardiovascular risk factors to the most severe outcomes in COVID-19. We highlight the distinct contributions of coagulopathy, thrombocytopathy and endotheliopathy to the pathogenesis of COVID-19 and discuss potential therapeutic strategies in the management of patients with COVD-19. Harnessing the expertise of the biomedical and clinical communities is imperative to expand the available therapeutics beyond anticoagulants and to target both thrombocytopathy and endotheliopathy. Only with such collaborative efforts can we better prepare for further waves and for future coronavirus-related pandemics., This Review summarizes the latest evidence indicating that platelet and endothelial dysfunction are essential components of COVID-19 pathology, describes the potential mechanisms underlying the contribution of cardiovascular risk factors to the most severe outcomes in COVID-19, and highlights the roles of coagulopathy, thrombocytopathy and endotheliopathy in COVID-19 pathogenesis., Key points Venous thromboembolism, arterial thrombosis and thrombotic microangiopathy substantially contribute to increased morbidity and mortality in patients with COVID-19.A complex interaction between coagulopathy, thrombocytopathy and endotheliopathy contributes to COVID-19-associated thromboinflammation.Coagulopathy, thrombocytopathy and endotheliopathy are characteristic features associated with cardiovascular risk factors such as diabetes mellitus, obesity and ageing.The combination of cardiovascular risk factors and infection with SARS-CoV-2 leads to exacerbated thrombosis and increased mortality.Age has an important role in COVID-19 pathogenesis; young patients without a predisposition to coagulopathy, thrombocytopathy and endotheliopathy can have a distinct multisystem inflammatory syndrome that includes a Kawasaki disease-like syndrome in very young individuals.Combination therapies targeting inflammation, coagulopathy, thrombocytopathy and endotheliopathy are likely to be more successful than a single agent in tackling the COVID-19-associated thrombotic complications.

Glanzmann thrombasthenia is a rare congenital thrombocytopathy. The first-line treatment in severe life-threatening bleeding is a transfusion of platelet concentrate or recombinant factor VIIa in the case of platelet transfusion refractoriness. We present the case of a 16-year-old boy with Glanzmann thrombasthenia who was admitted to hospital with severe bleeding into the quadriceps femoris muscle. At the age of 15 years, he was hospitalized again because of chronic bleeding into the right ankle joint, resulting in joint destruction. Here we give a scheme of management and treatment of this patient. Hemostatic therapy followed by radiosynovectomy of the right ankle joint and introduction of secondary preventive treatment with recombinant factor VIIa proved to be efficacious and safe.

Family thrombocytopenia/thrombocytopathy with a predisposition to the development of acute myeloid leukemia (AML) is a rare disease associated with a mutation in the RUNX1 gene. To date, there are data on this disease in no more than 70 families. We present a description of the clinical observation of this pathology in two twin children, and also offer an analysis of available literature on the pathogenetic aspects and prevalence of this rare disease. Patient's parents agreed to use personal dats and photos in research and publications.

Introduction An underlying thrombocytopathy seems to be responsible for hemorrhagic symptoms in patients diagnosed with 22q11.2 deletion syndrome (22q11DS) or Noonan syndrome (NS). In 22q11DS, it is explained by a defect in the membrane glycoprotein (GP) complex Ib-V-IX. The cause of thrombocytopathy in NS remains unclear. Aim The objective is to study the incidence of thrombocytopathy in pediatric patients diagnosed with 22q11DS or NS assessing the utility of ISTH-BAT questionnaire and laboratory techniques. Materials and Methods Prospective study between March and December 2018 in children (2–18 years old) diagnosed with 22q11DS or NS. Hemorrhagic symptoms using ISTH-BAT score, total cell blood count, platelet indices, PFA-200 closure times, and platelet aggregation were evaluated in all patients and membrane GP expression in 22q11DS patients. Results Nearly 70% of NS patients (n = 22) had a platelet aggregation defect without thrombocytopenia. A defect of platelet aggregation with adenosine diphosphate (ADP) and epinephrine was the most frequent pattern. A statistically significant inverse correlation between closure times and aggregation with arachidonic acid (p = 0.049, p = 0.043) and epinephrine (p = 0.021, p = 0.035), and ADP (p = 0.117, p = 0.05) was found. Total 5 out of 29 patients diagnosed with 22q11DS had macrothrombocytopenia; more noteworthy in older patients. Twenty-six patients showed an impairment in ristocetin-induced platelet aggregation that correlated with prolonged collagen/epinephrine (p = 0.034) and collagen/ADP (p = 0.01). A significant association between ISTH-BAT score >3 and closure times (p = 0.022, p = 0.002) and aggregation defect with ristocetin (p = 0.043) was also demonstrated. Conclusion Most NS and 22q11DS patients show an impairment of platelet aggregation that correlates with closure times. In 22q11DS patients, these results were also related to hemorrhagic symptoms.

Acute isolated traumatic brain injury (TBI) is frequently associated with occurrence of hemostasis disorders, which may be accompanied with hemorrhagic and ischemic events in the brain matter, hence, normal functioning of the blood coagulation system is critical. Understanding of the pathophysiological mechanisms of this phenomenon might help adequate prophylaxis of secondary brain damage. Earlier, development of disseminated intravascular coagulation syndrome (DIC) has been generally considered as a mechanism of coagulation disorders during TBI. However, over the recent decades, new data emerged concerning the key role of tissue factor, systemic inflammation response, thrombocytopathy, protein C effect in the occurrence of this coagulopathy. This overview of literature is aimed at providing the new data on specific pathophysiological mechanisms underlying coagulopathy following TBI.

Changes in the hemostatic system observed in pregnant women with HIV lead to thrombohemorrhagic complications for the mother and fetus, which are manifested by obstetric and perinatal complications.The purpose of the study: To investigate the vascular-thrombocyte hemostasis link changes in HIV-infected pregnant women depending on the clinical stage and the HAART start.Materials and methods. The state of the vascular-platelet hemostasis system and the blood loss volume have been studied in 150 HIV-infected pregnant women.Results. In the second trimester in pregnant women with ІІ and III HIV clinical stages a marked increase in the vascular-platelet hemostasis system activity was determined due to platelet aggregation function and the Vilebrand factor level evaluation. In the third trimester these patients showed an increase in vascular-platelet link activity and a decrease in thrombocyte and thrombocrit levels with an increase of MPV and PDW in women with a III stage of HIV infection. In women with III clinical stage of HIV infection there is a platelets decreasing and thrombocytopathy (inhibition of platelet aggregation function when induced by ADP, collagen and ristomycin and increased platelet aggregation by adrenaline). In pregnant that started HAART during this pregnancy there is a significant platelets and thrombocytopoiesis rate decreasing. The level of the Vilebrand factor was significantly higher in women of the 2nd and 3rd groups and tended to increase in the IA group.Conclusions. During pregnancy in women with II and III HIV clinical stages the increased activity of the vascular-platelet hemostasis system is noted. In HIV-infected pregnant patients with the III clinical stage and women who started HAART during this pregnancy, there is a tendency to haemorrages.

Background: Platelets are responsible for primary haemostasis. Patients with suspected platelet dysfunction require prompt clinical assessment when qualifying for emergency surgical procedures. The purpose of this article is to present our experience in platelet function assessment using whole-blood multiple electrode aggregometry (MEA) in various clinical conditions. Case reports: Retrospective analysis of three patients with thrombocytopathy associated with normal platelet counts was performed using standard laboratory tests complemented by MEA. In two cases, platelet dysfunction was due to antiplatelet drugs, while in one other case it was caused by chronic kidney disease. Conclusions: Anaesthesiologists strive to make the perioperative period as safe as possible. Platelet function assessment should be considered in every patient in whom haemostatic disturbances are suspected. MEA provides support for clinical decision-making, especially in patients who undergo haemodialysis or require antiplatelet therapy, and are in need of emergency surgery.

Hemostasis can be characterized as an array of physiological mechanisms providing both blood fluidity in the intact blood vessels and hemostasis in the event of impaired continuity of the blood vessel wall. The impaired hemo-static balance may lead on the one hand to an increased tendency to bleed, either spontaneously or only in response to an external stimulus. At the opposite end of bleeding are thrombophilic conditions characterized by an increased tendency to blood coagulation and thereby to the development of venous or arterial thrombosis. The hemostatic balance is the result of normal functioning of the blood vessel wall, platelets and plasma agents which include the coagulation and fibrinolytic systems and their inhibitors. By coagulation we understand the process leading to the formation of fibrin networks including the controlled interaction of coagulation factors. It is a physiological process as opposed to thrombosis which can be defined as increased coagulation under pathological conditions. Key words: coagulation - coagulation factors - coagulopathy - hemophilia - inhibitors of coagulation factors deficiencies - purpura - thrombocytopathy - thrombocytopenia.

A 54-year-old woman with a bleeding tendency after surgical interventions revealed abnormalities in the functional activity of platelets in the form of decreased phosphatidylserine exposure and the release of dense and α-granules. The morphology of the platelets remained normal, as was the aggregation function in the Born-O'Brien method with activation of ADP, collagen and ristomycin. In the study of plasma hemostasis, there were no abnormalities. The findings indicate that the patient has an unclassified thrombocytopathy.