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Open access

Suat Cakina, Ozgul Ocak, Adile Ozkan, Selma Yucel and Handan Isin Ozisik Karaman

Abstract

Multiple sclerosis (MS) is a common neurologic disorder that is a chronic inflammatory, demyelinating, and neurodegenerative disease of the central nervous system (CNS). Its etiology remains unknown. Several recent studies have found that decreased susceptibility to vitamin D deficiency is also associated with a decreased risk of MS. The role of vitamin D receptor (VDR) gene and its polymorphisms are highlighted as susceptible components. In this study, we aimed to identify the relationship between ApaI (rs7975232), BsmI (rs 1544410), and TaqI (rs731236) gene polymorphisms with MS. ApaI, BsmI, and TaqI genotypes were determined in 70 patients with MS and in 70 control subjects. DNA was isolated from blood samples, and then ApaI, BsmI and TaqI gene polymorphisms were identified using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The distribution of BsmI and TaqI polymorphisms did not show any significant differences in MS patients and controls; however, increased A allele of ApaI polymorphism was found in MS patients. Our findings suggest that the ApaI gene polymorphism might be associated with MS. Investigation of a larger population and functional work on these gene structures and function in MS patients are recommended.

Open access

Alina Bogliş, Florin Tripon and Claudia Bănescu

Abstract

Molecular genetic testing in craniosynostosis leads to the detection of the mutations in the genes encoding fibroblast growth factor receptors (FGFR), providing information about the etiology of the genetic disorder. Muenke syndrome is produced by p.Pro250Arg mutation in FGFR3 gene with evidence of variable expressivity, representing 8% of the syndromic craniosynostoses.

Here, we present the identification of a p.Pro250Arg pathogenic mutation (c.749C>G) in the FGFR3 gene using Multiplex Ligation-dependent Probes Amplification (MLPA) analysis in conjunction with Sanger sequencing in a patient with craniosynostosis and mild intellectual disability. The MLPA analysis detected a reduced signal of the probe, at the site of the c.749C>G mutation, defined by the presence of one allele of C749>G mutation in the FGFR3 gene, exon 7. Sanger sequencing was performed for confirmation and identified heterozygous p.Pro250Arg pathogenic variant (c.749C>G) in exon 7 of the FGFR3.

In conclusion, we assessed the validity and clinical utility of the combined molecular genetic techniques, MLPA analysis, and Sanger sequencing, for craniosynostosis and intellectual disability, improving not only the diagnostic testing but also the genetic counseling and management of the disorder.

Open access

Daniel Emil Albu, Monica Copotoiu, Peter Szmuk and Sanda-Maria Copotoiu

Open access

Irina Rosca, Andra-Cristina Bostanaru, Bogdan Minea, Valentin Nastasa, Iulian Gherghel, Carmen-Valentina Panzaru, Mihai Mares and Valentina Ruxandra Moroti-Constantinescu

Abstract

Background: During the last two decades a major increase in the proportion of severe fungal infections has been noted due to the excessive use of broad-spectrum antibiotics, catheters, and a growing number of immunocompromised patients.

Objectives: This is the first investigation providing complete data regarding the phenotypic and genotypic profiles of Candida albicans (C. albicans) isolates in Romanian patients.

Methods: We investigated 301 isolates in terms of genotype determination (G), resistogram (R), phospholipase activity (Pl), haemolysis (Hl), proteinase activity (Pt), and biofilm formation (BF).

Results: The analyzed isolates of C. albicans showed low values for Pt (61.73%), Hl (95.49%), and BF (60.71%), and did not present any Pl activity (92.23%). More than half of the investigated samples were genotype A with 450 bp (52.92%) and the majority (86.19%) were resistant to sodium selenite (A), boric acid (B), sodium periodate (D) and silver nitrate (E), but sensitive to cetrimide (-). One-way ANOVA analysis revealed significant effects of the infection site on biofilm formation (p = 0.0137) and no significant correlation was found between the genotype (A, B, C) and the infection site (p =0.449).

Conclusions: Based on the obtained results it can be concluded that C. albicans isolates in Romanian patients exhibit different genotypic and phenotypic patterns, and no significant correlations between genotype and infection site could be observed.

Open access

George Andrei Crauciuc, Florin Tripon, Alina Bogliş, Amalia Făgărăşan and Claudia Bănescu

Abstract

Small supernumerary marker chromosome (sSMC) is a rare chromosomal abnormality and is detected in about 0.3% in cases with multiple congenital anomalies (MCA) and/or developmental delay. Different techniques for investigation of cases with MCA and/or developmental delay are available ranging from karyotyping to molecular cytogenetic technique and ultimately multiplex ligation dependent probe amplification (MLPA). Here we present a patient with multiple congenital anomalies for which classical cytogenetic technique was used as a first step in diagnosis and the results being confirmed by MLPA. The karyotype disclosed a sSMC considered to be a fragment of chromosome 22. The MLPA analysis using SALSA MLPA probemix P064-C2 Microdeletion Syndromes-1B confirmed the karyotype results, and according to the manufacturer’s recommendation we performed another confirmation analysis with MLPA probemix P311-B1 Congenital Heart Disease and MLPA probemix P250-B2 DiGeorge. We also suspected an Emanuel syndrome and performed another MLPA analysis with SALSA MLPA probemix P036-E3 Subtelomeres Mix 1 and probemix P070-B3 Subtelomeres Mix 2B for investigation of subtelomeric region that revealed a duplication of 11q25 region and the confirmation was performed using SALSA MLPA probemix P286-B2 Human Telomere-11.

In conclusion, we consider that MLPA is a valuable method for identification of sSMC in children with developmental delay and congenital anomalies. Genetic diagnosis using different molecular techniques, such as MLPA, for increasing accuracy in identification of chromosomal structural aberrations has an important role in clinical diagnosis and in genetic counselling and our case explain the importance of using a specific laboratory technique for each stage of diagnosis.

Open access

Elena-Carmina Drăgulescu, Mihaela Oprea, Cătălina Zorescu, Roxana Şerban and Irina Codiţă

Abstract

A prolonged outbreak of Healthcare-Associated Infections (HCAIs) evolved since December 2013, in a Newborns Unit from Hospital A, sited in the North-Eastern development region, Romania. A first cluster consisted of 19 cases, of which 18 infections in newborns and 1 labour infectious complication in a mother. Except for five cases declared and treated in the Neonatology Unit as hospital-acquired infections, the other cases were discharged and further required rehospitalisation and treatment.

Eight of these innitialy discharged cases were readmitted to the Pediatric Surgery Unit and two others to the Pediatrics Unit of Hospital B, while three others were readmitted to three hospitals: one to the Pediatrics Unit of Hospital C, and other two to Hospital A and Hospital D, respectively. The mother with the labour infectious complication was readmitted to the Gynecology Unit of the Hospital A.

A number of fifteen Staphylococcus aureus (S. aureus) strains isolated from the HCAI first episode and 8 strains from 7 HCWs were received by „Cantacuzino” Institute, Nosocomial Infections and Antibiotic Resistance Laboratory from the County Public Health Directorate, for confirmation and molecular typing.

After a first round of interventions for infection control, a second episode bursted in Hospital A and our laboratory received six other S. aureus isolates from newborns, hospital environment, and HCWs.

Public Health interventions based on epidemiologic data and molecular microbiology results were finally successful. The evolution of all cases was favorable.

An important factor favoring the outbreak was the moving of the Birth Unit of Hospital A to an innapropriate location for an 18-month interval, more than innitially estimated, in relation to rehabilitation of the ward.

We considered to report this episode taking into account the unusual evolution, the risk of multiresistant bacterial strains spreading, and multiple unwanted consequences caused by shortcomings in providing appropriate hygiene conditions.

Open access

Asad Hamad, Muhammad Arfan, Shujaat Ali Khan, Nighat Fatima, Arshad Mehmood Abbasi and Abdul Mannan

Abstract

Artemisia vulgaris L. (Mugwort or Afsantin) has been used to treat various diseases since ancient times by the inhabitants of Himalayan region-Pakistan. Methanolic fractions (HA1-HA9) obtained from the aerial parts of A. vulgaris were evaluated for their antioxidant, antimicrobial and brine shrimp cytotoxic activities. Fraction HA8 showed substantial phenolics content with value of 26.29±1.4μgEQ/mg and DPPH scavenging (82.84±3.01%). Conversely, total flavonoids content of 7.32±0.07μgEQ/mg was determined in HA1 fraction. Fraction HA1 also showed significant cytotoxic effect with the value LD50 of 144.94μg/mL. Fractions HA7 and HA9 depicted maximum total antioxidant activity and ferric ion reduction (96.25±3.29 and AAE/mg and 176.91±8, respectively). All fractions showed encouraging results against bacterial strains Bordetella bronchiseptica and Micrococcus luteus, while HA2 fraction showed the highest percentage inhibition Mucor species with zone of inhibition of 13.25±0.35mm. A total of 7 fractions showed significant antileishmanial activity with survival percentage ranging 0.00 to 19. To sum up, results of the current study indicated that the plant can be further explored for isolation of antileishmanial and antimicrobial compounds, which could be used for drug development.

Open access

Sorin Dinu, Grațiela Țârdei, Emanoil Ceaușu, Simin Aysel Florescu, Laurențiu Micu, Alina Monica Ecobici, Mariana Mihăilă and Gabriela Oprișan

Abstract

Background: Severe complications of chronic hepatitis C – i.e. cirrhosis and hepatocellular carcinoma – are important causes of morbidity and mortality worldwide. Despite the overwhelming rates of sustained virologic response achieved after therapy with different combinations of direct-acting antiviral drugs (DAAs), treatment failure is still recorded, and is due to the mutations harboured by hepatitis C virus (HCV) resistance associated variants (RAVs) selected during therapy. Baseline RAVs testing was found significant for guiding treatment in the cases of treatment failure and, sometimes, in naïve patients.

Methods: Romanian chronic hepatitis C patients unexposed to DAAs and infected with subtype 1b HCV were studied. Serum samples were used for Sanger population sequencing of a fragment containing NS3 viral protease, known to harbour resistance mutation against protease inhibitors (PIs).

Results: Catalytic triad and zinc-binding site in the studied sequences were conserved. Low-intermediate resistance mutations to first generation PIs were detected either alone or in conjunction with resistance substitutions associated with second generation PIs. Cross-resistance and reduced susceptibility to certain DAAs were observed.

Discussion: This study focused on HCV patients infected with subtype 1b strains, the most prevalent in Romania. The rate of RAVs found in this work is consistent with the results reported by similar studies from other countries. Noticeably, numerous polymorphisms of unknown significance to DAAs resistance, but reflecting the high genetic variability of HCV, were found in the studied sequences. Testing for RAVs can be a useful method for guiding treatment in a cost-efficient manner in developing countries where access to DAAs is limited.

Open access

Octavia Sabin, Ioana Corina Bocșan, Adrian Trifa, Zoltan Zsigmond Major, Simona Codruta Heghes, Emanuela Brusturean Bota and Anca Dana Buzoianu

Abstract

Aim: A possible molecular mechanism of clinically defined multidrug-resistant epilepsy involves drug efflux transporters such as P glycoprotein (P-gp), a member of the ATP-binding cassette subfamily B1 (ABCB1). We have investigated the prevalence of the C3435T, G 2677T/A, and T129C single-nucleotide polymorphisms in the promoter region of MDR1 gene, in Romanian epileptic patients.

Methods: 70 epileptic patients evaluated in the Neurology Department of Cluj County Hospital were included in the study. The response to treatment was assessed by reviewing the seizure diaries and the patients were classified as responders or non-responders. Antiepileptic drug (AED) plasmatic concentrations were measured and the patients were divided into 2 groups: first group with AED concentrations in therapeutic range and the second one with sub-optimal AED concentrations. Genotyping the DNA samples, we investigated MDR1 gene polymorphism by polymerase chain reaction (PCR). Results were expressed as genotype and allele frequencies per response group and compared between subgroups.

Results: 33 patients (47.14%) were classified as responders, while the remaining 37 patients (52.86%) were classified as non-responders. A comparison of responders and non-responders revealed no significant difference in genotype frequency for any of the three mutations studied. The CT heterozygote for ABCB1 T129C had significantly lower AED concentrations (p=0.041), with no significant difference for the other polymorphisms studied.

Conclusions: In our study we found an association of CT variant in ABCB1 C129T with lower AED plasmatic concentrations and no association between ABCB1 variants and the drug responsiveness.