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Open access

Andra Costache, Silvana Angelescu, Doina Barbu, Elena Popescu, Delia Ileana Mut Popescu and Anca Roxana Lupu

Abstract

Patients with acute leukemia develop abnormalities of haemostasis, leading not only to bleeding, but also to thrombotic complications. The pathogenesis of these complications is complex and multifactorial. Because platelets and platelet derived microparticles are key players in haemostasis and thrombosis, we presumed their roles in the prediction of bleeding and thrombotic complications. Our study groups included 24 patients with acute leukemia and 16 healthy volunteers. Platelet aggregation evaluation was performed by impedance whole blood aggregometry and the ennumeration of platelet derived microparticles was done by means of flow cytometry. Eight patints developed hemorrhagic complications associated with reduced platelet aggregation response at hospital admission. Major thrombotic events occurred in 5 patients, being preceded by increased platelet aggregation in 3 cases and high level of platelet derived microparticles in 2 cases. Our findings reveal that whole blood platelet aggregometry could be a valuable tool especially in the detection of platelet hyperreactivity and in the prediction of thrombotic events. A high level of platelet derived microparticles could also predict thrombosis. These hypotheses need further evaluation and confirmation on larger number of patients.

Open access

Emilia Marciuc, M. Barcan, B. Dobrovăţ, Roxana Popescu, Cornelia Tudorache and Danisia Haba

Abstract

Blunt carotid artery injury is a relatively rare but potentially lethal injury that predominantly occurs in high-impact mechanisms such as motor-vehicle collision. Any simptoms or neurological deficits following a multiple trauma patient mandates a thorough evaluation and consideration of BCI. This is a case report on two young patients with neurologic simptoms developed after blunt trauma in the cervical region. Both patients had left internal carotid artery dissection diagnosed on a CT-angiography, followed by middle cerebral artery territory infarction. Although it can be a delayed onset with no signs of vascular demage, we believe that, by implementing a protocol with additional imaging for early detection, we can prevent a devastating outcome.

Open access

Adriana Sireteanu, Roxana Popescu, Elena Emanuela Braha, Cornel Bujoran, Lăcrămioara Butnariu, Lavinia Caba, Elena Graur, Eusebiu Vlad Gorduza, Mihaela Grămescu, Iuliu Cristian Ivanov, Monica Pânzaru and Cristina Rusu

Abstract

Intellectual disability (ID) is a common disorder, with major consequences for individual, family and society. Due to clinical and genetic heterogeneity of ID, in about 50% of cases an etiologic diagnosis cannot be established. The aim of this study was to evaluate the ability of a combination of MLPA kits to establish the diagnosis in 369 patients with syndromic ID and normal or uncertain routine karyotype results. All patients were assessed for chromosome imbalance using SALSA MLPA P064 or P096 kits, if the phenotype was suggestive of a microdeletion syndrome (subgroup A - 186 patients), or subtelomeric P036 and P070 kits, if the phenotype was not suggestive of a microdeletion syndrome or if the result of the standard karyotype was uncertain (subgroup B - 183 patients). Abnormal results detected by these kits were further characterized using appropriate follow-up MLPA kits (Telomere Follow-up set, P029-A1, P250-B2, ME028-B1). In subgroup A we identified 25 patients with microdeletions (13.4%). Using subtelomere screening and follow-up kits in subgroup B we detected cryptic rearrangements in 7.5% cases and identified the origin of the unknown material noticed in the standard karyotype in 10 out of 11 patients. Summarizing data from the two groups, the combined use of MLPA kits led to the diagnosis in 10.6% (38/358) patients with normal karyotype. Using follow-up MLPA kits allowed us both to confirm abnormalities and to determine their size, which facilitated the interpretation of the clinical significance of these rearrangements. For laboratories that do not have yet access to microarray technology, using several MLPA kits represents an effective strategy for establishing the diagnosis in ID patients.

Open access

Cristina Rusu, Adriana Sireteanu, Lăcrămioara Butnariu, Monica Pânzaru, Elena Braha, Doina Mihăilă and Roxana Popescu

Abstract

Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked progressive muscle disorders determined by mutations of the dystrophin (DMD) gene. Multiplex Ligation - Dependent Probe Amplification (MLPA) is a simple, inexpensive and reliable test for molecular diagnosis of DMD gene mutations. It identifies exonic copy number variations in the DMD gene, but the test should be completed with sequencing analysis in case of single exon deletions/duplications. The aim of this study was to evaluate the efficiency of MLPA as a DMD mutation screening tool in affected males and carrier females, as well as to appreciate the frequency of different types of mutations and to check the validity of the “reading frame rule”. We have used MLPA for the detection of deletions/ duplications in DMD gene in 53 individuals (30 affected males and 23 asymptomatic female relatives) referred for evaluation and genetic counseling due to the clinical suspicion of DMD/BMD. In the affected males (21 DMD and 9 BMD) MLPA had a detection rate of 63.5% (53.5% deletions and 10% duplications). The most frequently deleted exon was exon 45 and the most frequent duplication involved exons 3-5, confirming the presence of the two hotspot mutation regions reported in the literature. Mutations detected in our study have a slightly different location compared to literature data. Reading frame rule was valid in 84% of our cases.

Open access

Georgiana Emilia Grigore, Iuliu C. Ivanov, Mihaela Zlei, Angela Dăscălescu, Roxana Popescu, Tudor Petreuș and Eugen Carasevici

Abstract

Traffic of tumor- and normal cells through the peripheral blood (PB) of patients with B-cell chronic lymphocytic leukemia (B-CLL) to the lymph nodes (LN) or spleen/ liver sites is governed by specific changes in surface and intracellular molecule expression. The study aims to investigate the potential association between different lymphocyte subsets, chemokine receptors or genetic alterations and specific clinical signs in a group of B-CLL patients. Forty-three patients were included in the study. The expression of CCR7, CXCR5, CXCR3, CCR4, CD3, CD4, CD8, CD27, CD28, CD45RA, CD25, CD127, CD38 was tested by multiparameter flow cytometry. Genetic alterations were determined by MLPA. We found increased frequency of CD38+ B-CLL cells directly correlated with the presence of LN>5cm. CXCR5 and CCR7 are homogenously expressed by monoclonal B-CLL cells. CCR4+ B-CLL cell frequency is found to be lower in the PB of patients presenting particular LN involvement. Heterogeneous and complex genetic alterations were found and only the presence of trisomy 12 associated with less frequent axillary LN involvement. We also report a significant increase in the frequency of total T cells and T cell subsets (effector- and central memory CD4+ T cells, regulatory T cells, follicular T helper cells, distinct functional CD8+ T cells) with the occurrence of specific clinical manifestations. Chemokine receptor expression on circulating CD4+ T cell subsets was augmented in connection to some specific LN locations. Consequently, clinical manifestations in B-CLL are linked to both, factors intrinsic to the monoclonal B cells, and external influences coming from the microenvironment.

Open access

Daniela Cana-Ruiu, Eugen Mota, Eliza Trican, Natalia Istrate, Monica Popescu, Roxana Vasile, Cristina Văduva, Iulia Vladu and Lucian Stoica

Abstract

Cardiac failure (CHF), renal disease and anemia are interconnected in the Cardio- Renal Anemia syndrome. Diabetes mellitus remains the most common cause of endstage renal disease (ESRD) in the developed world and when it is associated with these three conditions it worsens the outcomes of these patients. Aim:to evaluate renal anemia and cardiac dysfunction in patients with chronic kidney disease with and without diabetes mellitus (DM). Materials and methods - we assessed 100 patients (40 women and 60 men), 41 patients with DM and 59 patients without DM. All patients had Chronic Kidney Disease (CKD) - estimated glomerular filtration rate (eGFR) under 60 ml/min/1,73 mp. We considered anemia when the value of haemoglobin (Hb) was under 11 g/dl. Results - Mean age of the studied patients was 60.38±11.79 years old in women and 59.28±13.89 years old in men. The prevalence of anemia was high in diabetic and non-diabetic patients, too. Anemia was more severe in patients with cardiac dysfunction than in those with normal cardiac function. The higher prevalence of cardiac dysfunction was in patients which had both anemia and DM. There were no significant differences about prevalence of diastolic or systolic cardiac dysfunction in non-diabetic versus diabetic patients. Conclusions - Anemia was an independent predictor for the development of cardiac dysfunction in patients with CKD and the prevalence of cardiac dysfunction was higher in patients who had both anemia and DM than in those without anemia and DM.

Open access

Eusebiu V. Gorduza, Roxana Popescu, Lavinia Caba, Iuliu Ivanov, Violeta Martiniuc, Florina Nedelea, Mariela Militaru and Demetra G. Socolov

Abstract

Background. The Down syndrome is a severe disease without pathogenic therapy. The only possibility to reduce the consequences of disease is prenatal screening and diagnosis. The gold standard in prenatal diagnosis is the conventional banding cytogenetic analysis of fetal cells obtained by invasive procedures. To reduce the complications, in the last years different methods to detect fetal cells or DNA in maternal blood were developed. Aim. The aim of study was to verify the reliability of quantification by immunoprecipitation of methylated fetal DNA in maternal blood in the prenatal diagnosis of 21 trisomy. Method. We analyzed probes from 12 pregnant women (7 with confirmed 21 trisomy pregnancy and 5 with normal pregnancy), with two being rejected for technical considerations. For each probe we carried out: extraction of total DNA (maternal and fetal), DNA fragmentation, immunoprecipitation of methylated DNA, washing, isolation of DNA and qPCR for immunoprecipitated DNA. To highlighting specific methylated regions on fetal 21 chromosome we used eight pairs of specific primers for chromosome 21. Finally we analysed the results of qPCR applying the formula D=- 6.331+0.959XEP4+1.188XEP5+0.424XEP6+0.621XEP7+0.028XEP8+0.387XEP10-0.683XEP11+ 0.897XEP12, where XEPi= fraction value for each marker. Results. In all normal pregnancies the value of D factor was negative concordant with absence of trisomy (100% specificity). In 5 from 6 pregnancies with 21 trisomy the value of D factor was positive, which indicated a high sensibility. However, to a precise estimation of this method is required a larger number of cases that allowing the obtaining of statistically validated results.

Open access

Florin Petrariu, Ovidiu Alexinschi, Roxana Chirita, Vasile Chirita, Alin Ciobica, Manuela Padurariu, Radu Lefter, Romeo Dobrin, Radu Popescu, Emil Anton, Oana Arcan and Daniel Timofte

Abstract

While the exact relevance of the oxidative stress markers after the complex processes of alcohol withdrawal is still controversial, in the present report we were interested in studying the relevance of oxidative stress status in the alcohol withdrawal processes, by determining some oxidative stress markers after 3, 6 and 12 months of abstinence. 62 patients were selected, all of them males. Thus, 33 (baseline), 14 (3 months), 14 (6 months) and 15 (12 months) patients, while the control group (n=32) included healthy, sex and aged-matched subjects. Regarding superoxid dismutase, we observed a significant group difference (p<0.0001), together with an increase in all 3 cases of time-abstinence, as compared to baseline results: (p<0.0001-3 months), (p<0.0001-6 months) and (p<0.0001- 12 months). Also for glutathione peroxidase, we observed a significant overall effect of the abstinence in our groups (p=0.0003), plus an increase especially at 6 months (p=0.03) and 12 months (p=0.006). Regarding malondialdehyde, as a main marker for the lipid peroxidation processes, we found significant differences between our groups (p<0.0001), together with a decrease in all 3 cases, compared to the baseline group (p=0.003), (p=0.01) and (p=0.0002). In conclusion, this confirms the increased oxidative stress status in alcoholic patients and even more importantly, we showed that there is a significant and progressive decrease in the oxidative stress status at 3, 6 and 12 months after the withdrawal process, as demonstrated by the increased levels of antioxidant enzymes and decreased rate of lipid peroxidation, when compared to baseline values.

Open access

Roxana Popescu, Angela Dăscălescu, Cătălin Dănăilă, Doramina Ghiorghiu, Mihaela Zlei, Anca Ivanov, Adriana Sireteanu, Eusebiu Vlad Gorduza and Doina Azoicăi

Abstract

The coexistence of t(9;22) and inv(16) has been described in a very limited number of cases of CML, de novo or therapy-related AML. We report a patient with CML who presented both inversion of chromosome 16 and Philadelphia chromosome and evolved towards the blast phase under treatment with Imatinib. Laboratory diagnosis and monitoring was made by flow cytometry, conventional cytogenetics and molecular genetics techniques. The inv(16), detected by karyotyping in the Philadelphia chromosome positive clone at the moment of the blast transformation, was retrospectively assessed by means of real-time PCR, and was proved to have been present since diagnosis. The bone marrow biopsy performed in the blast phase of CML confirmed the presence of blasts belonging to the myeloid lineage, with indications of monocytic differentiation, frequently associated with inv(16). Moreover, the case also associated a F359V tyrosine kinase domain mutation, resulting in intermediate resistance to Imatinib and Nilotinib, which imposed therapy-switch to Dasatinib. In our case the evolution was progressive, followed by death due to lack of response to tyrosine kinase inhibitors, 18 months after diagnosis. The coexistence of t(9;22) and inv(16) in CML seems to be associated with an aggressive clinical evolution and resistance to tyrosine kinase inhibitor therapy. Due to the very small number of cases described in literature, therapeutic decisions are still difficult for patients displaying these abnormalities

Open access

Ioana Macovei, Daniela Lemeni, Roxana Șerban, Andreea Niculcea, Gabriel A. Popescu, Maria Nica, Anca Petrini and Grigore Mihăescu

Abstract

This study investigated the antibiotic susceptibility patterns and genetic resistance markers of 35 C. difficile strains isolated from patients with C. difficile infection. Vancomycin, metronidazole, tigecycline, teicoplanin, rifampicin, moxifloxacin, cefotaxime, tetracycline, erythromycin, clindamycin, chloramphenicol, linezolid and imipenem MICs were determined for toxigenic strains belonging to PCR ribotypes (PR) 012 (2), 014 (4), 017 (3), 018 (2), 027 (17), 046 (2), 087 (3) and 115 (2). Results showed vancomycin, metronidazole, tigecycline and teicoplanin to be active against all isolates. High resistance rates were noticed against cefotaxime (n = 35), clindamycin (n = 33), imipenem (n = 31), moxifloxacin (n = 25), erythromycin (n = 25) and rifampicin (n = 22). Linezolid-resistance was found in three isolates (PR 017/2, PR 012/1), showing complex resistance (7-9 antibiotics). PR 012, 017, 018, 027 and 046 isolates (n = 26) were resistant to 5-9 antibiotics. Twelve resistance profiles (2-9 antibiotics) were detected. Rifampicin-moxifloxacin-cefotaxime-erythromycin-clindamycin-imipenem-resistance was predominant, being expressed by 18 strains (PR 027/17, PR 018/1). PCR results suggested tetracycline-resistance to be induced by the gene tetM. Three tetM-positive isolates (PRs 012, 046), were also tndX-positive, suggesting the presence of a Tn5397-like element. Only two MLSB-resistant strains (PR 012) had the ermB gene and chloramphenicol-resistance determinant catD was not detected, leaving room for further investigating resistance mechanisms. Multidrug resistance could be attributed to most analysed strains, underlining, once more, the impact of wide-spectrum antimicrobial over prescription, still a tendency in our country, on transmission of antimicrobial resistance and emergence of epidemic C. difficile strains generating outbreaks.