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Pelikan DM Scherjon SA Mesker WE de Groot-Swings GM Brouwer-Mandema GG Tanke HJ Kanhai HH 《American journal of obstetrics and gynecology》2004,191(2):551-557
OBJECTIVE: The purpose of this study was to evaluate the quantification of fetomaternal hemorrhage by the manual and automated microscopic analysis of Kleihauer-Betke stained slides and by flow cytometry. STUDY DESIGN: Blood smears were stained and evaluated manually according to the Kleihauer-Betke test. The same slides were used for automated microscopy. In addition, blood flow cytometry was performed by anti-hemaglobin F immunostaining. RESULTS: Fetomaternal hemorrhage >0.1% was detected in 4 patients by manual and automated Kleihauer-Betke test and by blood flow cytometry. Fetomaternal hemorrhage was absent according to all 3 methods in 13 patients; fetomaternal hemorrhage<0.1% was detected in 27 patients by either manual or automated Kleihauer-Betke test or both. Moderate agreement was observed between the manual and automated Kleihauer-Betke test (weighted kappa, 0.56; 95% CI, 0.33-0.78). Agreement between the manual Kleihauer-Betke test and blood flow cytometry was fair (weighted kappa, 0.40; 95% CI, 0.15-0.66). CONCLUSION: Automated microscopic detection of fetal blood cells in clinical samples provides accurate quantification that is comparable to the manual Kleihauer-Betke test in both small and large fetomaternal hemorrhage. Blood flow cytometry is capable only of quantifying fetomaternal hemorrhage of >0.1%. 相似文献
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Verbelen Hanne De Vrieze Tessa Van Soom Timia Meirte Jill Van Goethem Mireille Hufkens Godelieve Tjalma Wiebren Gebruers Nick 《Quality of life research》2020,29(2):569-578
Quality of Life Research - To develop a diagnostic tool, the Breast Edema Questionnaire (BrEQ) and to determine its clinimetric properties. The BrEQ was developed based on information from... 相似文献
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Job A. J. Verdonschot Els K. Vanhoutte Godelieve R. F. Claes Apollonia T. J. M. Helderman‐van den Enden Janneke G. J. Hoeijmakers Debby M. E. I. Hellebrekers Amber de Haan Imke Christiaans Ronald H. Lekanne Deprez Hanne M. Boen Emeline M. van Craenenbroeck Bart L. Loeys Yvonne M. Hoedemaekers Carlo Marcelis Marlies Kempers Esther Brusse Jaap I. van Waning Annette F. Baas Dennis Dooijes Folkert W. Asselbergs Daniela Q. C. M. Barge‐Schaapveld Pieter Koopman Arthur van den Wijngaard Stephane R. B. Heymans Ingrid P. C. Krapels Han G. Brunner 《Human mutation》2020,41(6):1091-1111
Filamin C (FLNC) variants are associated with cardiac and muscular phenotypes. Originally, FLNC variants were described in myofibrillar myopathy (MFM) patients. Later, high‐throughput screening in cardiomyopathy cohorts determined a prominent role for FLNC in isolated hypertrophic and dilated cardiomyopathies (HCM and DCM). FLNC variants are now among the more prevalent causes of genetic DCM. FLNC‐associated DCM is associated with a malignant clinical course and a high risk of sudden cardiac death. The clinical spectrum of FLNC suggests different pathomechanisms related to variant types and their location in the gene. The appropriate functioning of FLNC is crucial for structural integrity and cell signaling of the sarcomere. The secondary protein structure of FLNC is critical to ensure this function. Truncating variants with subsequent haploinsufficiency are associated with DCM and cardiac arrhythmias. Interference with the dimerization and folding of the protein leads to aggregate formation detrimental for muscle function, as found in HCM and MFM. Variants associated with HCM are predominantly missense variants, which cluster in the ROD2 domain. This domain is important for binding to the sarcomere and to ensure appropriate cell signaling. We here review FLNC genotype–phenotype correlations based on available evidence. 相似文献