ABSTRACT
Essentials The diagnosis of mild platelet function disorders (PFDs) is challenging. Validation of flow cytometric testing in patients with suspected PFDs is required. Flow cytometry has added value to light transmission aggregometry (LTA) in diagnosis of PFDs. There is fair agreement in diagnosing PFDs between LTA and flow cytometry. SUMMARY: Background Light transmission aggregometry (LTA) is the most commonly used test for the diagnosis of platelet function disorders (PFDs), but has moderate sensitivity for mild PFDs. Flow cytometry has been recommended for additional diagnostics of PFDs but is not yet standardized as a diagnostic test. We developed a standardized protocol for flow cytometric analysis of platelet function that measures fibrinogen binding and P-selectin expression as platelet activation markers in response to agonist stimulation. Objectives To determine the additional value of flow cytometric platelet function testing to standard LTA screening in a cross-sectional cohort of patients with a suspected PFD. Methods Platelet function was assessed with flow cytometry and LTA in 107 patients suspected of a PFD in whom von Willebrand disease and coagulation factor deficiencies were excluded. Both tests were compared in terms of agreement and discriminative ability for diagnosing patients with PFDs. Results Out of 107 patients, 51 patients had an elevated bleeding score; 62.7% of the patients had abnormal platelet function measured with flow cytometry and 54.2% of the patients were abnormal based on LTA. There was fair agreement between LTA and flow cytometry (κ = 0.32). The discriminative ability of flow cytometric analysis in patients with an elevated bleeding score was good (AUC 0.82, 0.74-0.90), but moderate for LTA (AUC 0.70, 0.60-0.80). Both tests combined had a better discriminative ability (AUC 0.87, 0.80-0.94). Conclusion Flow cytometric analysis of platelet function has added value in diagnostics of PFDs in patients with unexplained bleeding tendency.
Subject(s)
Blood Platelet Disorders/diagnosis , Blood Platelets/metabolism , Flow Cytometry , Platelet Activation , Platelet Function Tests/methods , Blood Platelet Disorders/blood , Cross-Sectional Studies , Fibrinogen/metabolism , Humans , P-Selectin/blood , Platelet Aggregation , Predictive Value of Tests , Reproducibility of ResultsABSTRACT
The occurrence of nasopharyngeal teratomas (NPT) is an infrequent event and prenatal detection of such tumors is even rarer. We present a case report and review of the literature (N = 78 cases), in which we describe the cytogenetic, DNA, and pathological findings of a fetus with a mature NPT which was detected prenatally by ultrasound investigation following complaints of severe polyhydramnios by the mother.
Subject(s)
Amniocentesis , Aneuploidy , Chromosomes, Human, Pair 1 , Fetal Diseases/genetics , Nasopharyngeal Neoplasms/genetics , Teratoma/genetics , Adult , Chromosome Aberrations , Chromosome Banding , Female , Fetal Diseases/diagnostic imaging , Humans , In Situ Hybridization, Fluorescence , Nasopharyngeal Neoplasms/diagnostic imaging , Polyhydramnios , Pregnancy , Pregnancy Trimester, Second , Teratoma/diagnostic imaging , UltrasonographyABSTRACT
Three Somali women presented with problems of the infibulation they had undergone when they were girls. The first one was 22 years old and had problems with coition, the second one was 21 years old and had problems with parturition, the third one was 28 years old and had an epidermal cyst near the ventral commissure of the vulva. Infibulation is a form of female circumcision, in which the clitoris, labia minora and labia majora are removed and the ostium vaginae is reduced to less than a centimeter. In the Netherlands the Ministry of Health, Wellbeing and Sport and the Association of Obstetricians and Gynaecologists have declared themselves opponents to female genital mutilation carried out by Dutch physicians. The association decided also to not carry out reinfibulation, e.g. after parturition.
