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Open access

Simona Bucerzan, Radu Anghel Popp, Raluca Maria Vlad, Cecilia Lazea, Radu Nicolaescu and Paula Grigorescu-Sido

Abstract

Aim: To assess the risk for trisomy 21 in children, depending on the polymorphisms C677T and A1298C of the methylenetetrahydrofolate reductase (MTHFR) gene in mothers.

Methods: For 93 mothers who have children with trisomy 21 and 202 mothers of healthy children (control group), genotyping of MTHFR polymorphisms C677T and A1298C was performed.

Results: For each polymorphism, three genotypes were identified (normal homozygous, heterozygous and mutant homozygous). For the polymorphism C677T, the frequencies of the three genotypes (CC, CT and TT) were 50.5%, 40.8% and 8.6% in mothers of children with trisomy 21, versus 42.6%, 46% and 11.4% in mothers of healthy children, with no statistically significant differences. The frequency of the polymorphism A1298C was not statistically significant between the two groups for the genotype (AA) (48.4% vs 56.4%) or the genotype (AC) (39.8% vs 38.6%), but the genotype TT was more frequent in mothers of children with trisomy 21 (11.8% vs 4.9%; p = 0.033; OR = 2.57).

Conclusion: Women with genotype CC for the polymorphism A1298C of the MTHFR gene have a 2.57 times higher risk of offspring with trisomy 21.

Open access

Călin Lazăr, Radu Popp, Camelia Al-Khzouz, Gheorghe Mihuț and Paula Grigorescu-Sido

Abstract

Introduction. At the moment there is not enough data in Romania about the incidence of the main genetic mutations which can cause hearing loss.

Objective. The current research aims to determine on a representative sample the prevalence of two mutations of genes GJB2 -c.35delG and p.W24X- and two mutations of genes GJB6 -del(GJB6-D13S1830), del(GJB6-D13S1854) respectively - in patients with congenital nonsyndromic sensorineural hearing loss (CNSHL).

Methods: The sample group included 179 children with CNSHL. The evaluation consist in: a.Clinical, laboratory and imagistic examination; b.ENT exam and audiological evaluation. c.Two methods (semi-nested PCR technique followed by RFLP, validated with ARMS-PCR analysis) for detection of c.35delG and pW24X mutations; d.PCR-multiplex technique for detecting del(GJB6-D13S1830) and del (GJB6-D13S1854).

Results: The audiological diagnosis was: profound hearing loss in 116 patients (64.8%), severe hearing loss in 29 children (16.2%) and moderate hearing loss in 34 patients (representing 19% of the trial patients). The prevalence for the three mutations was: 27.3 % for c.35delG, 3.6 % for p.W24X and 0.28% for del(GJB6-D13S1830). The detection of the three mutations (two on GJB2 gene and one on GJB 6 gene) has allowed to establish the genetic cause for deafness in 45 patients, representing 25.14% of the sample group. Our study is reporting the first case in Romania with a mutation of gene GJB6. Mutation del(GJB6-D13S1854) lacked in all 179 patients.

Conclusion: The prevalence data obtained in the current research are comparable to data communicated by studies from other European countries.

Open access

Andreea Catana, Alma Maniu, Doinel Radeanu, Radu A. Popp, Roxana F. Ilies and Iuliu V. Catana

Abstract

BACKGROUND. Polymorphisms for genes encoding chemosensitive signalling proteins like NOS2 might contribute to the variability in individual susceptibility to nasal polyposis. NO produced by the inducible NO synthase enzyme NOS2A is generated at high levels in certain types of inflammation, so that the role of NOS2 might also be important in nasal polyposis etiopathogeny.

MATERIAL AND METHODS. This is a cross-sectional, randomized, case-control study for the evaluation of the frequency of -954G/C NOS2A2 alleles among patients with nasal polyposis. The study included 91 cases of nasal polyposis diagnosed patients (nasal endoscopy and CT scan examination), and 117 healthy unrelated controls. NOS2 genotyping was carried out using PCR amplification of relevant gene fragment and it was followed by restriction enzyme digestion. Detection of the variant alleles was determined through analysis of resulting restriction fragment length polymorphism (RFLP) followed by gel electrophoresis.

RESULTS. Molecular analysis revealed an increased frequency of NOS2 variant allele in the study group compared to the control group (p=0.019, OR=1.991, CI=1.08-3.67). A statistically significant finding was highlighted among allergic and nonallergic patients with nasal polyposis (p=0.046, OR=0.449. CI=0.208-0.969) and a relationship between nasal polyposis patients with asthma and non-asthmatic patients (p=0.119, OR=1.825, CI=0.875-3.80).

CONCLUSION. The main finding of our study is that -954G/C polymorphism of NOS gene seems to be associated with an increased risk for nasal polyposis.

Open access

Mureșan Daniel, Andreea Cătană, Radu Anghel Popp, Diana Elena Dumitraș, Florin Stamatian, Anca Dana Buzoianu and Ioana Cristina Rotar

Abstract

Aim: The present study aim to analyze the relationship between GST M/T genotypes of glutathione S-transferases and cervical intraepithelial neoplasia.

Materials and Methods: A prospective case-control study has been designed including 69 cases with different degrees of cervical dysplasia and 107 controls. All patients had been examined colposcopically. For every patient both cervical and blood specimen have been obtained. The peripheral blood was used for GST M/T genotyping. The statistical analysis was performed using OR and chi-square at a level of significance inferior to 0.05.

Results: No statistically significant differences had been found between cases and controls for GST T-/M- geno-type (T-/M-, χ2=0.03, p= 0.8610) and T+/M+ χ2=0.65, p = 0.4197. Patients with in situ carcinoma had significant GST genotype association for T-/M+ genotype (OR=4.66, CI 95% [0.6528,24.9725], χ2=4.6, p=0.0314) and for T+/M- genotype (OR=0.12, CI 95% [0.0027,0.9465], χ2=0.05, p=0.0219).

Conclusion: The combination of GST genotypes can be included in a predictive score for patients with cervical carcinoma.

Open access

Iuliu Vlad Cătană, Radu Anghel Popp, Victor Pop Ioan, Andreea Cătană, Doinel Rădeanu, Alma Maniu and Marcel Cosgarea

Abstract

Background. Polymorphisms for genes encoding glutathione S-transferase (GSTM1/GSTT1/GSTP1) might be one of the factors that can influence the variability in susceptibility for hyposmia in normal and ENT pathology associated individuals. The role of GST family enzyme might be important in exposure to xenobiotic induced damage of nasal mucosa. Objectives. To evaluate of distribution of GST variants (GSTM1/GSTT1 null alleles and Ile105Val GSTP1 polymorphism) among patients with hyposmia and normal individuals by using a case-control study. Subjects The study included 75 cases of hyposmic patients (evaluated with “Sniffin’ Sticks” olfaction Test), recruited from the Otorhinolaryngology Department of Emergency County Hospital, Cluj-Napoca and 124 healthy unrelated controls. Methods. GSTM1 and GSTT1 variants genotyping was accomplished using a Multiplex PCR method, followed by agarose gel electrophoresis. GSTP1 Ile105Val gene variant was genotyped using PCR-RLFP technique. Results. Comparative analysis for Ile105Val variant of GSTP1 gene revealed no statistical differences among patients and controls (χ2 = 3.012, p = 0.087, OR = 1.514, CI = 0.491 to 1.572). Molecular analysis did not reveal an increased frequency for GSTT1 and GSTM1 null alleles in the patients group compared to controls (GSTT1 - 95% CI = 0.332 to 1.261, p = 0.192, OR = 0.641, χ2 = 2.120, GSTM1 - 95% CI = 0.171 to 0.592, χ2 = 2.017, OR = 0.321, p = 0.062). Significant statistical differences were found when combined GSTM1 and GSTT1 null genotypes (double-null genotypes) were compared between patients and controls (p=0.0015, OR=4.0351; CI=1.706-9.543) and when comparing allergic NP patients with non-allergic NP patients (p=0.027, OR=3.455, CI=1.147-10.406). Conclusions. The presence of both GSTM1/GSTT1 null genotypes (double null genotypes) is considered to be a risk factor for NP and hyposmia development in allergic individuals. The results of our study show no correlation between Ile105Val polymorphism of GSTP1 gene and nasal polyposis associated hyposmia in this Romanian group population.

Open access

Felicia Maria Petrişor, Andreea Cătană, Dragoş Horea Mărginean, Adrian Pavel Trifa, Radu Anghel Popp and Ioan Victor Pop

Abstract

Introduction: Being a multifactorial disease, stroke is one of a major causes of death and disability worldwide. Several genetic polymorphisms have been associated with stroke etiophatology and FGB −455 G>A and GP IIIa PIA1/A2 are among them. In the present study, we investigated the association between FGB −455 G>A and GP IIIa PIA1A2 polymorphisms and the risk of ischemic stroke in a group of Romanian stroke patients.

Subjects and methods: This case-control study included 148 patients with ischemic stroke and 150 healthy age, sex and ethnically matched unrelated controls. FGB −455G>A and GP IIIa PIA1A2 genotyping was carried out using PCR-RFLP. The association of FGB −455G>A and GP IIIa PIA1A2 polymorphisms and cardiovascular risk factors with ischemic stroke was tested using logistic regression analysis.

Results: Molecular analysis did not reveal an increased frequency of the FGB -455 G>A variant allele and GP IIIa PIA1/A2 variant allele in the study group compared to the control group (p = 0.140, OR = 0.750, 95% CI = 0.522 - 1.077; p = 0.823, OR = 0.944, 95% CI = 0.558 - 1.599 respectively). Furthermore, after performing logistic regression analysis adjusted for the known risk factors, a positive association with stroke was found in smokers (p = 0.026, OR = 1.800, 95% CI = 1.071 - 3.024)

Conclusions: No association was found between FGB −455 G>A and GP IIIa PIA1/A2 polymorphisms and ischemic stroke in the studied population.

Open access

Ana-Maria Moldovianu, Anca Popp, Zsofia Varady, Alina Tanase, Alexandra Marculescu, Camelia Dobrea, Didona Vasilache, Cerasela Jardan, Radu Niculescu and Daniel Coriu

Abstract

The purpose of this work is to present the results of allogeneic stem cell transplantation as therapy for patients diagnosed with acquired aplastic anemia in the Department of Bone Marrow Transplantation of Fundeni Clinical Institute and to elaborate an algorithm of treatment in aplastic anemia starting with the observations obtained from our clinical practice and following the European treatment guidelines in this group of patients.

Aplastic Anemia (AA) is a rare hematological disease characterized by pancytopenia and a hypocellular bone marrow. The paradigm of bone marrow failure syndromes, aplastic anemia is a diagnosis of exclusion despite the precision of its diagnosis criteria. Although AA is not a malignant disease, but an autoimmune disorder, the grave consequences of pancytopenia and clonal transformation into acute leukemia make it a potentially fatal condition.

The management of AA patients is challenging and necessitates a very well established treatment plan from the diagnosis.

We present the treatment algorithm for AA patients with recommendations based on both recent guidelines in the field and on our experience treating AA patients with allogeneic stem cell transplant. Therapeutic procedure algorithm comprises different approaches for different patient populations, age categories and availability of immunosuppression therapy or different types of donors.

According to the recent EBMT recommendations the treatment of choice for young patients (younger than 40 years) who have a matched sibling donor is hematopoietic stem cell transplantation (HSCT). For those patients who don’t have a matched sibling donor or are not candidates for HSCT due to older age, the immunosuppression with ATG and cyclosporine is an efficient treatment. The supportive care has an important role and the patients with aplastic anemia should be managed by a multidisciplinary team. For patients older than 40 years, the choice between immunosuppressive therapy (IST) and upfront transplant with HLA identical sibling donor remains a key question. However, the standard approaches for this category of patients is front line immunosuppression with ATG and cyclosporine and if they become refractory to at least one course of IST the allogeneic stem cell transplant using fludarabine-based conditioning is the second-line treatment option.

In our institution there were eleven AA patients treated with allogeneic stem cell transplantation from 2009 till 2015. They were all young patients with age between 19 and 42 years old and all had severe acquired aplastic anemia with transfusion dependence. Six cases were transplanted from a matched sibling donor and five patients had undergone an unrelated matched donor transplant. The allogeneic HSCT procedure was done both as front line therapy in the case of three patients and as second treatment choice in the rest of eight patients. Four patients died, three of them due to transplant related toxicity and one patient experienced severe autoimmune reaction with transfusion inefficacy complicated with intracerebral haemorrhage at four months from transplant.

In our opinion the most challenging aspect in treating AA patients is choosing the best treatment option taking into account the patient age and performance status, the severity of the disease and the availability of a donor for allogeneic HSCT.

Although the treatment strategy must be individualized in every patient case, it is necessary to make a standardization of treatment procedures in AA and to follow the evidence based recommendations available in the management of this rare disease.

Open access

Ana Maria Daraban, Adrian Pavel Trifa, Radu Anghel Popp, Diana Botezatu, Marinela Șerban, Valentina Uscatescu, Rodica Talmaci, Daniel Coriu, Carmen Ginghina and Ruxandra Oana Jurcut

Abstract

Objective: The present case-control study aimed at evaluating the contribution of thrombophilic polymorphisms to acute venous (VTE) as well as arterial thrombotic events (ATE) in a population of young women with few traditional thrombotic factors (CVRF).

Methods: We consecutively enrolled patients under 45 years of age, with less than 3 CVRF, evaluated for VTE or ATE, women and men as a comparator. The control group consisted of healthy young women. A thrombophilia panel and genetic testing for Factor V Leiden (FVL), G20210A Prothrombin and MTHFR polimorphisms were done.

Results: A total of 323 persons were enrolled: 71 women and 121 men with thromboembolic events, and 131 healthy female as controls. Hyperhomocysteinemia was more frequent in ATE (30.4%) than VTE female patients (6.25%), p<0.01. Genetic testing was available in 45 women and 84 men with acute thrombotic events and in all controls. Homozygous FVL was associated with VTE in young women (10.3% vs 0% controls, p<0.01). Prothrombin G20210A polymorphism had the lowest prevalence – 5.4% and only heterozygosity was found. MTHFR C677T heterozygosity showed no significant difference between women patients and controls (62.2 % vs 43.5% respectively, p=0.1). The homozygous status, less frequent (6.6%), was not associated with ATE or VTE. Homozygous MTHFR A1298C was associated with VTE in women (17.2% patients vs 4.5% controls, OR 4.34, p 0.02, CI 1.22-15.3).

Conclusion: In young women with few CVRF, mild hyperhomocysteinemia, homozygosity for FVL and for MTHFR A1298C polymorphisms increase the risk for VTE but not ATE. MTHFR polymorphisms are found with increased frequency in both healthy persons and patients therefore, their significance as an important thrombotic risk modifier remains unclear.