1. Nove oblike zdravljenja hemofilije in laboratorijsko preiskovanjeAlenka Trampuš-Bakija, 2025, review article Abstract: Možnosti zdravljenja hemofilije so v zadnjih letih močno napredovale. Nove oblike zdravljenja s koncentrati s podaljšanim delovanjem in nefaktorsko zdravljenje omogočajo bolnikom drug način in/ali podaljšan interval med odmerki. Laboratorijsko spremljanje zdravljenja je za obravnavo bolnikov s hemofilijo ključno. Najpogosteje uporabljena metoda za ugotavljanje aktivnosti faktorjev VIII in IX je enostopenjska metoda z aktiviranim parcialnim tromboplastinskim časom. V specializiranih laboratorijih aktivnost faktorjev določajo tudi s kromogeno metodo. Izbor metode in vrste reagenta lahko močno vplivata na rezultat merjenja. Pomembne razlike (> 35 %) med metodama so opisane za modificirane koncentrate rekombinantnih faktorjev s podaljšano življenjsko dobo in pri genskem zdravljenju hemofilije. Preventivno zdravljenje z bispecifičnimi protitelesi zahteva uvedbo več dodatnih diagnostičnih metod pri bolnikih z inhibitorji in brez. Za laboratorijsko spremljanje zmanjšanja aktivnosti naravnih antikoagulantov še ni jasnih smernic. Laboratorij mora natančno vedeti, kakšno obliko zdravljenja bolnik prejema, saj le izbor ustrezne enostopenjske in/ali kromogene metode, ovrednotene za posamezno učinkovino, omogoča primerno prilagojeno zdravljenje hemofilije A ali B.
Keywords: hemofilija, nadomestno zdravljenje, nefaktorsko zdravljenje, laboratoriji, enostopenjska metoda, kromogena metoda
Published in DiRROS: 07.01.2026; Views: 216; Downloads: 93
 Full text (436,36 KB)
This document has many files! More... |
2. Case report : agranulocytosis in a child following metamizole use – a diagnostic challengeAljaž Pirnat, Tomaž Prelog, Janez Jazbec, Alenka Trampuš-Bakija, 2025, other scientific articles Abstract: Objective: This case report describes a young female who developed agranulocytosis with blast cells in peripheral blood following prolonged metamizole use after ankle surgery. Case Report: A 17-year-old female patient was admitted to the Department of Infectious Diseases due to high fever and sore throat. Initial diagnostics revealed agranulocytosis, followed by occurrence of blast cells and left shifted neutrophils in the peripheral blood, in subsequent days. Extensive further diagnostics were performed due to suspicion of leukaemia, which was excluded after flow cytometry and cytogenetic analysis of bone marrow aspirate. After all tests were completed, the patient disclosed that she had been using metamizole for four months following ankle surgery. Conclusion: In cases of agranulocytosis, involving a prolonged history of metamizole use accompanied by the presence of blast cells and granulocyte precursors in peripheral blood, we would recommend an initial diagnostic approach that includes a complete blood count with differential and flow cytometry of peripheral blood. Bone marrow aspiration may be postponed or deemed unnecessary if peripheral blood flow cytometry shows no aberrant populations and there are no other signs of leukaemia.
Keywords: metamizole, agranulocytosis, leukaemia, blast cell, flow cytometry
Published in DiRROS: 15.12.2025; Views: 353; Downloads: 129
Full text (276,34 KB)
This document has many files! More... |
3. Postnatal levels of glycated albumin and glycated hemoglobin A1c in mothers of large-for-gestational-age newbornsMojca Železnik, Alenka Trampuš-Bakija, Darja Paro Panjan, Aneta Soltirovska Šalamon, 2024, original scientific article Abstract: Background: Gestational diabetes mellitus (GDM) is an important cause of macrosomia. The value of glycated albumin (GlyA) has been demonstrated to be a useful marker of glycemic control in pregnancy and a predictor of adverse perinatal outcomes. The aim of this study was to investigate the relationship between the postnatal levels of GlyA and glycated hemoglobin A1c (HbA1c) regarding the prenatal diagnosis of GDM in mothers of large-for-gestational-age (LGA) newborns. Methods: The study included mothers and their LGA newborns born between July 2017 and September 2019. The mothers were grouped according to the prenatal diagnosis of GDM, and measurements of GlyA and HbA1c levels in their serum were performed on the first day after delivery of a LGA newborn. Results: A total of 61 LGA newborns and their mothers were enrolled in the study. The median GlyA level was higher, at 16.4% (81.0 µmol/L), whereas the HbA1c level was lower in the group without a prenatal diagnosis of GDM; the differences between groups regarding the GlyA and HbA1c levels were not significant (p > 0.05). The postnatal level of maternal GlyA was positively correlated with birth weight (β = 0.022, p = 0.007), but no correlation with the presence of other adverse perinatal outcomes was found. Conclusion: Mothers of LGA newborns who were not diagnosed with GDM during pregnancy had higher median levels of GlyA and lower HbA1c levels than mothers with prenatal diagnosis of GDM. Values of GlyA in mothers were positively correlated with the birth weight of their newborns but no correlation with other adverse perinatal outcomes was found. Our results indicate the potential value of GlyA for screening of GDM in the last trimester of pregnancy.
Keywords: gestational diabetes mellitus, glycated albumin, glycated hemoglobin, large for gestational age, newborn
Published in DiRROS: 17.11.2025; Views: 281; Downloads: 127
Full text (423,92 KB)
This document has many files! More... |
