Search Results

You are looking at 1 - 6 of 6 items for

  • Author: Margit Şerban x
Clear All Modify Search
Open access

Estera Boeriu, Margit Şerban, Bruno Neuner, Smaranda Teodora Arghirescu, Hortensia Ioniţă, Cristina Emilia Ursu, Ladislau Ritli, Şerban Talpoş, Cristian Jinca and Jenel Marian Pătraşcu

Abstract

Introduction. In search for explanations of the clinical heterogeneity in patients with haemophilia (PwH) with the same mutation or degree of factor VIII deficiency, the coexistence of single or associated prothrombotic risk mutations has been widely evaluated. Objective. The evaluation of the frequency of prothrombotic risk mutations and polymorphisms in PwH in comparison with the general population. Method. The study was performed on 113 consecutive PwH consisting of PCR technology aiming to detect: factor V Leiden - G 1691A (FVL) and prothrombin (PT) - G 20210 A mutations, methylentetrahydrofolat - reductase (MTHFR) and plasminogen activator inhibitor type 1 (PAI-1) polymorphisms. Results. Within the whole study group, 52.21% patients have been identified with associated prothrombotic risk mutations or polymorphisms, 40.70% with one and 7.08% without any such alterations. The global frequency was characterized by the predominance of PAI-1 polymorphism present in 82.29% and MTHFR in 52.21% of patients. Heterozygous variants of PT G20210A, FV G1691A, MTHFR and PAI-1 were found in 7.96%, 9.73%, 39.82% and 53.98% cases, respectively. According to the disease severity, in 89 patients with severe hemophilia, the following frequencies of polymorphisms were found: for MTHFR 52.80%, for FV G1691A 5.61%, for PT G20210A 8.99% and for PAI-1 polymorphism 79.77%. Conclusions. The frequency of FV, PT and PAI-1 genes alterations in our group of hemophilia patients is higher than in the normal population. Nevertheless, considering their uneven distribution in different ethnic groups and geographical regions, more studies on a larger age- and sex-matched patient population are needed.

Open access

Alexis-Virgil Cochino, Jean-Louis Pérignon, Mihaela Bătăneanţ, Mihai Craiu, Ioan Gherghina and Margit Şerban

Abstract

We describe the case of a 15 month old boy, investigated for repeated and prolonged infections, associated to progressive neurological impairment. Immunological work-up found low immunoglobulin levels and decreased numbers of T and B lymphocytes, with a T-B-NK+ phenotype. Imaging showed lack of thymus and cerebral cortex atrophy. The key towards the diagnosis was plasma uric acid determination: hypouricemia suggested purine nucleoside phosphorylase deficiency, a very rare disease, with only 67 reported cases worldwide. Diagnosis was confirmed by enzyme activity measured using a radioisotopic method.

Open access

Smaranda Arghirescu, Eugen Boia, Emilia Ursu, Delia Savescu, Madalina Boc, Cristian Jinca and Margit Serban

Abstract

The adequate performance and correct interpretation of assays for coagulation factor inhibitors play a critical role for the hemostasis laboratory. Both, false positive and false negative inhibitor assays may be reported, leading to erroneous patient’s management. Therefore, we decided to present a case with a spurious image of an exceptionally rare acquired combined haemophilia A, B and C, with severe factor ( F) VIII, IX and XI deficiency, associated with high titre anti - F VIII, IX and XI inhibitors in a 4 years old girl with Henoch-Schönlein type vasculitis. Finally, performing, beside coagulometric methods also antigenic ELISA assays, we had to invalidate the diagnosis. The performance of antiphospholipd antibodies clarified the diagnosis , finally concluding as definite diagnosis Transient Lupus Anticoagulant Syndrome, with decisive impact on therapy and follow-up.

Open access

Smaranda Arghirescu, Mihaela Bătăneanț, Cristian Jinca, Andreea Pașcalău, Mihaela Lelik, Mihaela Preja, Ladislau Ritli, E.C. Ursu, Margit Șerban and Hortensia Ioniță

Abstract

Pseudothrombocytopenia is an in vitro sampling problem which may mislead the diagnosis towards the more critical condition of thrombocytopenia. The phenomenon occurs when the anticoagulant used while testing the blood sample causes clumping of platelets which mimics low platelet count without any clinical signs. This may determine unnecessary, expensive and invasive investigations and even treatment. In this article we report two cases of pseudothrombocytopenia diagnosed in pediatric patients.

Open access

Cristian Jinca, Carmen Angela Maria Petrescu, Estera Boeriu, Andrada Oprisoni, Loredana Balint-Gib, Mihaela Baica, Cristina Popa, Nicoleta Andreescu, Margit Serban, Emilia Ursu and Smaranda Arghirescu

Abstract

Introduction. The unsatisfactory results of the survival in patients with acute lymphoblastic leukemia (ALL) until 2000 in our center have led us to improve the approach of diagnosis and therapy. Since 2003 in all patients the following have been performed: flow cytometry, conventional genetic diagnosis, FISH (fluorescent in situ hybridization), and molecular biology. Objectives. Our aims were to identify solutions to increase patients’ survival. Patients and method. It is a single-center, retrospective study of 136 patients with ALL treated at 3rd Pediatric Clinic of Timisoara, over a period of 10 years (2003-2012), where survival was assessed. Results. Morphologically, 86% of the patients were L1 type, 13% L2 type and 1% L3 type. Flow citometry revealed that 68% were ALL with B precursors, and 19% with T immunophenotype. Acute leukemia with mixed phenotype (biphenotypic) was identified in 2.3% of patients and 10.7% of the forms were acute leukemia with myeloid markers. In 27.7% of patients, mutations were detected by the RT-PCR method, the most commonly identified was TEL-AML1 (ETV6- RUNX1) accounting for 12.7% of the cases. Relapse-free survival at 5 years for the entire group was 59%, and for the group treated between 2008 and 2012 it was 72%. Conclusion. Our analysis confirms the decisive value of laboratory investigations for the prognosis and improvement of supportive therapy.

Open access

Margit Șerban, Dan Poenaru, Laura Cernat, Delia Savescu, Jenel Pătrașcu, Wolfgang Schramm, Emilia Ursu, Delia Mihailov, Cristian Jinca, Ioana Ioniță and Smaranda Arghirescu

Abstract

The development of FVIII/FIX inhibitor alloantibodies represents a severe complication requiring specific laboratory evaluation for establishing a life-saving therapy regimen. Our preliminary study aimed at elaborating a laboratory strategy for monitoring the effectiveness of Activated Prothrombin Complex Concentrate (APCC) and recombinant activated factor VII (rFVIIa) in haemophiliacs with inhibitors, by checking the reliability and clinical value of three complementary assays: clotting-time based coagulometry, thrombelastography (TEG) and thrombin generation assay (TGA). The investigations were performed on 7 patients with severe haemophilia A with high titer inhibitors treated for 12 episodes of severe bleedings, 5 of them for surgical interventions. After the administration of bypassing agents (BPAs) the clotting-time based assay brought changes only on prothrombin (p<0.01), potentially signaling a thrombotic risk, without any impact on the global hemostasis. TEG displayed prompt significant improvement only after rFVIIa (90μg/kg). TGA revealed significantly improved values for peak and velocity index, time to peak and start tail after both BPAs. Despite some disparities between biological hemostatic phenotype and clinical response to therapy, we concluded that TEG and TGA are the only current exploratory assays, expressing the quality of haemostatic control, representing a real support for a personalized, adapted therapy in hemophilia with inhibitors.