1,721,046 research outputs found
Thrombophilia testing: Update, guidelines in the greyzones
Full text linkThrombophilien sind hereditäre oder erworbene Krankheitszustände, welche das Risiko für Thromboembolien
erhöhen. Eine Thrombophilieabklärung wird häufig bei Patienten mit venösen Thromboembolien (VTE) sowie bei deren
Angehörigen durchgeführt. Über deren Durchführung besteht allerdings keine Einigkeit, da die Ergebnisse mehrheitlich keinen
Einfluss auf die Behandlung der Patienten haben. Im vorliegenden Artikel diskutieren wir die Thrombophilieabklärung in den
folgenden klinische Situationen: bei provozierter bzw. nicht provozierter VTE, bei Angehörigen von Patienten mit VTE, oder bei
weiblichen Verwandten von Patienten mit VTE, welche die Einnahme von Östrogenen oder eine Schwangerschaft planen. Wir
stellen weiterhin eine Checkliste der zu testenden Laborparameter und den Zeitpunkt der Abklärung vor. In den meisten Fällen
ist keine labormässige Abklärung empfohlen. Die Thrombophilieabklärung sollte sehr selektiv durchgeführt werden und nur,
wenn sich die gewonnenen Informationen auf wichtige Entscheidungen des Patienten auswirken und die möglichen Risiken
aufwiegen. Manchmal ist das Wissen um eine Thrombophilie für den Patienten wichtig, um ein Krankheitsereignis verarbeiten
zu können. Eine kompetente Beratung vor der Laboruntersuchung und eine fachgerechte Interpretation der Ergebnisse sind
zwingend gefordert. Eine Thrombophilieabklärung sollte nicht im Akutstadium einer VTE oder während der ersten 3 Monate einer
Antikoagulation durchgeführt werden.Thrombophilias are hereditary or acquired conditions predisposing patients to thromboembolism. Testing for thrombophilia
is commonly performed in patients with venous thromboembolism (VTE) and their relatives. However, no consensus
exists for such testing that also usually does not provide information that impacts management. We review thrombophilia
testing in the following clinical situations: Provoked VTE, unprovoked (idiopathic) VTE, in relatives of patients with VTE, in female
relatives of patients with VTE considering estrogen use, in female relatives of patients with VTE who are considering
pregnancy. We also propose a list of thrombophilia parameters to test and the timing of thrombophilia testing. We suggest that
thrombophilia testing not be performed in most situations. When performed, it should be used in a highly selective manner,
and only in circumstances where the information obtained will impact a decision important to the patient, and outweigh the
potential risks of testing. Testing could also be requested by the patient on a subjective basis. Therefore a pre-test counseling
as well as a proper interpretation of laboratory tests are mandatory. Testing should not be performed during acute VTE nor during
the initial 3-month period of anticoagulation
Thromboembolien und Thrombophilie in der Schwangerschaft
Full text linkZusammenfassung: Venöse Thromboembolien, meist in Form von Bein- oder Beckenvenenthrombosen bzw. Lungenembolien
auftretend, stellen immer noch eine der führenden Ursachen mütterlicher Morbidität und Mortalität in der Schwangerschaft
dar. Eine effektive Prophylaxe und sichere Therapie sind daher wichtige Massnahmen, um Komplikationen zu vermeiden und
jungen Frauen eine gefahrlose Schwangerschaft zu ermöglichen. Im folgenden Artikel beschreiben wir Prinzipien der Risikoabschätzung
sowie die Diagnose und Therapie venöser Thromboembolien. Zudem diskutieren wir das peripartale Management
der Antikoagulation, die Risikoabschätzung im Hinblick auf östrogenhaltige Kontrazeptiva, sowie den Einfluss thrombophiler
Risikofaktoren auf Schwangerschaftskomplikationen
Accuracy of heparin-induced platelet aggregation test for the diagnosis of heparin-induced thrombocytopenia.
Full text linkINTRODUCTION
Whereas the utility of washed platelet assays such as the heparin-induced platelet activation test (HIPA) for the diagnosis of heparin-induced thrombocytopenia (HIT) is regarded as high, the performance of simpler assays such as the heparin-induced platelet aggregation test (PAT) is still elusive. Using well-characterized samples of a large cohort study, we aimed to assess the diagnostic accuracy of PAT for the diagnosis of HIT.
MATERIAL AND METHODS
One-hundred twenty-two immunoassay-positive serum samples of a previous, prospective single-center cohort study including consecutive patients with suspected HIT (n = 1291) were used. HIPA was determined as reference gold standard; samples were previously analyzed using PAT as well as polyspecific platelet factor 4/heparin enzyme-linked immunosorbent assay (ELISA). 4Ts score was calculated using the patient documentation. Diagnosis of HIT was defined as a positive HIPA, which is a positive reaction in 2 out of 4 donor platelets within 30 min.
RESULTS
HIT was diagnosed in 39 out of 122 patients corresponding to a prevalence of 32%. Median optical density (ELISA) was 2.8 (inter-quartile range 2.3, 3.0) in patients with HIT and 0.7 (0.5, 1.3) in patients without HIT. PAT was positive in 27 out of 39 HIT patients and it was negative in 83 out of 83 HIT-negative patients. Thus, the sensitivity of PAT for the diagnosis of HIT was 69% (95% confidence interval 52%, 83%) and the specificity 100% (96%, 100%).
CONCLUSIONS
Our results demonstrate that PAT is a valuable test to confirm HIT but cannot be applied to rule-out HIT in clinical practice
Increased fibrinogen levels at diagnosis are associated with adverse outcome in patients with acute myeloid leukemia
No full textIncreased plasma fibrinogen levels are associated with shortened overall survival (OS) in some solid tumor types. In contrast, the prognostic significance of varying fibrinogen levels in acute myeloid leukemia (AML) at diagnosis is unknown. In this study, we assessed the prognostic significance of fibrinogen levels in AML patients. In a comprehensive retrospective single-center study, we determined the survival rates of 375 consecutive AML patients undergoing at least one cycle of intensive chemotherapy induction treatment. Patients were dichotomized between low (<4.1 g/L) and high fibrinogen levels (≥4.1 g/L) at diagnosis of AML before initiation of treatment. Subsequently, quartile ranges were applied to analyze the association of varying fibrinogen levels on survival. We observed that the rates of complete remission, early death, and admission to intensive care unit were equal in the low versus high fibrinogen group. However, OS was significantly better in the low fibrinogen group (27.3 vs 13.5 months; p = 0.0009) as well as progression-free survival (12.3 vs 7.8 months; p = 0.0076). This survival difference remained significant in the multivariate analysis (p = 0.003). Assessing quartiles of fibrinogen values, we further confirmed this observation. Our data suggest that high fibrinogen levels at diagnosis of AML are associated with unfavorable OS and progression-free survival but not with increased mortality during induction treatment
Resistance to thrombomodulin correlates with liver stiffness in chronic liver disease a prospective single-center cohort study.
Full text linkINTRODUCTION
Chronic liver disease (CLD) is characterized by changes in haemostasis, embracing both hypo- and hypercoagulability. Global hemostatic tests such as thrombin generation assays evaluate the hemostatic balance, to better assess bleeding and thrombotic risks. In addition, procoagulant state in patients with CLD has been demonstrated using modified thrombin generation assays with thrombomodulin, a cofactor for protein C activation. In this study, we prospectively determined thrombin generation and thrombomodulin resistance in patients with CLD staged with liver stiffness measurement (LSM), using both the fully automated analyzer ST Genesia® Thrombin Generation System (STG) and the calibrated automated thrombogram assay (CAT).
MATERIALS AND METHODS
Demographic, clinical and laboratory characteristics, and blood samples were collected from 65 patients with CLD. Liver stiffness was measured by transient elastography, and thrombin generation and thrombomodulin resistance, by STG and CAT.
RESULTS
Patients were separated based on LSM of <21 and ≥21 kilopascals (kPa). The propagation rate of thrombin generation was higher in patients with LSM ≥21 kPa and the thrombin generation rate increased as LSM increased. In addition, thrombomodulin resistance assessed by STG and CAT was higher in patients with LSM ≥21 kPa. However, ETP inhibition by activated protein C was comparable in patients with LSM <21 and ≥21 kPa. Finally, LSM correlated with most thrombin generation parameters.
CONCLUSION
The STG automated system may have value in the assessment of patients with chronic liver disease in the routine coagulation laboratory. LSM ≥21 kPa identify a procoagulant phenotype in these patients, including thrombomodulin resistance
Growth arrest-specific gene 6 : the Jekyll and Hyde of inflammation
No full textLe système immunitaire est très finement réglé pour permettre une réponse adaptée lors de l'entrée de pathogènes, mais aussi pour éviter tout emballement délétère du système. Le rôle du gène "Growth arrest-specific gene 6" (gas6), lors de la réponse inadaptée, a été étudié dans ce travail. Surexprimé durant l'arrêt de croissance de la cellule, gas6 protège celle-ci de l'apoptose. Gas6, le produit du gène gas6, est le ligand de trois récepteurs tyrosine kinase, appelés Axl, Tyro3 et Mertk. Dans le but de comprendre le rôle de gas6 dans l'inflammation, ce gène a été étudié dans deux pathologies distinctes; tout d'abord dans le sepsis, une maladie avec une réaction inflammatoire systémique provoquée par une infection, et ensuite dans la maladie du greffon contre l'hôte, une complication de la transplantation allogénique de cellules souches hématopoïétiques caractérisée par la destruction de certaines cellules du receveur par des leucocytes du donneur
Unstable hemoglobin Montreal II uncovered in an adult with unexplained hemolysis exacerbated by a presumed viral infection: a case report.
Full text linkBACKGROUND
Unstable hemoglobinopathies are rare inherited disorders of hemoglobin causing a reduction of hemoglobin molecule solubility. This results in an unstable hemoglobin tetramer/globin polypeptide, which precipitates within the red blood cell. Affected red blood cells have a reduced lifespan due to oxidative stress and cellular rigidity, and tend to be phagocytized by spleen macrophages more rapidly. Unstable hemoglobin is frequently under- or misdiagnosed, because its clinical presentation varies broadly. Therefore, testing for unstable hemoglobinopathies is indicated in cases of unexplained hemolytic anemia. However, this approach is not systematically followed in clinical practice.
CASE REPORT
A 25-year-old Caucasian man with a recent history of a presumed viral upper respiratory infection was referred to the hematology outpatient clinic because of hemolytic anemia. The patient had scleral icterus, moderate splenomegaly, and mild macrocytic anemia with high reticulocyte count. Unconjugated bilirubin and lactate dehydrogenase were elevated. Haptoglobin was undetectable. Direct antiglobulin test was negative. Blood smear examination revealed anisopoikilocytosis, polychromasia, bite cells, and basophilic stippling, but no Heinz bodies. High-performance liquid chromatography and capillary electrophoresis showed slightly increased hemoglobin A2, normal fetal hemoglobin, and a variant hemoglobin. Deoxyribonucleic Acid sequencing revealed the heterozygous mutation c430delC in the beta-globin gene hallmark of hemoglobin Montreal II and the heterozygous mutation c287C>T in the alpha-globin gene corresponding to hemoglobin G-Georgia, indicative of the not yet described combination of double-heterozygous hemoglobin Montreal II and hemoglobin G-Georgia variants. Hemoglobinopathy Montreal II was here not associated with β-thalassemia syndrome, and carriers did not show ineffective erythropoiesis. In addition to the case report, we provide information about the largest pedigree with hemoglobinopathy Montreal II identified to date.
CONCLUSION
We emphasize that a transitory acute condition may uncover an underlying inherited red blood cell disorder. In this regard, awareness should be raised among hematologists caring for adult patients that unstable hemoglobinopathies should be considered in the differential diagnosis of unexplained hemolytic anemias
Genetic alterations crossing the borders of distinct hematopoetic lineages and solid tumors: Diagnostic challenges in the era of high-throughput sequencing in hemato-oncology.
No full textOwing to the introduction of next-generation sequencing (NGS) new challenges for diagnostic algorithms and the interpretation of the results for therapeutic decision making in hemato-oncology have arisen. Recurrent somatic mutations crossing the borders between different hematological entities and solid neoplasms have been detected. In analogy to mutant TP53, the same mutation type may occur in myeloid, B- or T-lymphatic malignancies or solid neoplasms. At the same time, a certain mutation can show different prognostic outcomes in different entities and co-existence of certain mutations may change the prognostic relevance. These insights may spark the investigation of targeted therapies with the same substances across different disease entities. This review article summarizes mutations that can emerge in different hematologic and solid malignancies and summarizes other obstacles in the era of modern molecular diagnostics, such as the phenomenon of "clonal hematopoiesis of indeterminate potential" being difficult to interpret in the individual patient
Mise en place percutanée de filtres dans la veine cave inférieure en prévention de l'embolie pulmonaire : recommandations
No full textRecommandations conçues dans le cadre d'un Groupe de travail coordonée par Lucia Mazzolai du Service d'angiologie. Membres du Groupe de travail: Angelillo-Scherrer Anne (Service d'hématologie), Burnier Michel ( Service de néphrologie), Demartines Nicolas (Service de chirurgie viscérale), Duchosal Michel (Service d'hématologie), Farron Alain (Service d'orthopédie), Hohlfeld Patrick (Département de gynéco-obstétrique), Hugli Olivier (Service des urgences), Jichlinski Patrice (Service d'urologie), Jolliet Philippe (Service de médecine intensive), Kern Christian (Service d'anesthésiologie), Levivier Marc (Service de neurochirurgie), Leyvraz Serge (Service d'oncologie), Meuli Reto (Service de radiodiagnostic et radiologie interventionnelle), Nicod Laurent (Service de pneumologie), Qanadli Salah (Service de radiodiagnostic et radiologie interventionnelle), Ris Hans-Beat (Service de chirurgie thoracique et vasculaire), Ruchat Patrick (Service de chirurgie cardiovasculaire), Vial Yvan (Service de gynécologie obstétrique), Vogt Pierre (Service de cardiologie), Von Segesser Ludwig (Service de chirurgie cardiovasculaire), Waeber Gerard (Service de médecine interne), Yersin Bertrand (Service des urgences
- …
