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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

Mark Nelson

Abstract

The Biosphere 2 project, a 1.2 hectare materially-closed mini-biosphere that supported teams of biospherian crews from 1991-1994 provides a host of ecological and human-biosphere lessons relevant to our global biospheric challenges. Because of its high visibility through worldwide media coverage, the project advanced public understanding of what a biosphere is and the roles that humans can constructively play in keeping ecosystems and atmosphere healthy. The present paper reviews the fairly recent scientific understanding of our global biosphere and some of the intriguing results from Biosphere 2. It also examines some of the reasons that Biosphere 2 aroused controversy because of narrow definitions and expectations of how science is to be conducted. The cooperation between engineers and ecologists and the requirement to design a technosphere for Biosphere 2 that supported the life inside without harming it has enormous relevance to what is required in our global home. There was an unexpected and profound connection that the ‘biospherian’ crew inside Biosphere 2 felt to their living biosphere. Biosphere 2 also demonstrated new kinds of roles that can be played by people aware of a biosphere as their life support system.

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

Dirk Spennemann

Abstract

Aided by their transplantability as adult plants, Phoenix canariensis and Washingtonia robusta palms have a long history as ornamental feature trees in urban settings. With their plentiful production of carbo-hydrate reach drupes, palms have become a major food source for the grey-headed flying-fox (Pteropus poliocephalus) during late autumn and early winter. This paper reviews the consumption of Phoenix canariensis and Washingtonia robusta drupes based on the field observations and a morphological and metric analysis of spat-out remains (‘ejecta’). Based on a review of the mastication mechanics of fruit consumption, the paper demonstrates that P. poliocephalus can be ruled out as a disperser of the invasive Phoenix canariensis, but must be considered for the dispersal of Washingtonia robusta.

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.