Archive of Journal
Volume 71, Issue 12, Dec. 2015

Association of a 3-Amino Acid Deletion Mutation of NPHS2 Gene with Congenital Nephrotic Syndrome (CNS) in a Consanguineous Pakistani Family

Volume 71, Dec 2015

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Abstract: Congenital nephrotic syndrome is an inherited autosomal recessive disorder characterized by heavy proteinuria, hypoalbuminemia, hyperlipidemia, edema, and minimal glomerular changes. Majority of nephrotic syndrome (NS) occurs as a sporadic form, the incidence of familial cases is from 3 to 5%. Mutations of seven genes, NPHS1 (19q13.1), NPHS2 (1q25-31), ACTN4 (19q13), CD2AP, WT1, TRPC6 (11q21-22), and LAMB2, have been recognized to date as responsible for various forms of NS. Proteins encoded by these genes influence the function of the podocytes. Podocin is an integral membrane protein encoded by NPHS2, which is mapped to 1q25-31 and is exclusively expressed in glomerular podocytes. NPHS2 mutations are responsible for autosomal recessive familial steroidresistant nephrotic syndrome (SRNS) with minor glomerular abnormalities or focal segmental glomerulosclerosis (FSGS), which is characterized by early childhood onset and rapid progression to chronic renal insufficiency. It has been demonstrated that sporadic SRNS and heavy proteinuria are also due to NPHS2 gene mutations. In this study, we ascertained a consanguineous Pakistani family with congenital nephritic syndrome. By genetic linkage analysis we mapped the disease phenotype NPHS2 gene locus. All eight exons and exon-intron boundaries of NPHS2 gene were analyzed by using the polymerase chain reaction and direct sequencing. A pathogenic 9bp deletion (704del9) mutation in exon 5 of NPHS2 gene, resulting in a 3-amino acid deletion (residues 236-238) was associated with the disease in Pakistani family.

Author(s): Hameed A, Nasir M, Ajmal M

THE AUSTRALIAN MENINGOCOCCAL C VACCINATION PROGRAM: 5 YEARS ONWARDS

Volume 71, Dec 2015

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Abstract: In May 2003, a national, publicly-funded meningococcal C vaccination program for Australian children aged 12 months commenced and has been successful in reducing serogroup C meningococcal disease in all age groups, even those not targeted by the catch-up program. In May 2003, 3 serogroup C meningococcal conjugate vaccines (MenCCV) were funded for inclusion on the Australian National Immunisation Program (NIP) as a single dose to all children aged 12 months. A nationally-funded catch-up program was also undertaken in a phased approach with priority given to the 15/19 years age group. Children aged >5 years were targeted via a school-based program, presenting a number of logistical challenges for some States and Territories where NIP vaccines had generally been administered via a GP. Young adults not in the school system proved difficult to target, resulting in poor coverage estimated to be ~20%. MenCCV coverage in the target age group, 12 months, increased each year since the program introduction. Vaccine coverage at 24 months for one dose of MenCCV was approximately 88% in 2006 and 93% in 2008. Prior to the MenC vaccination program, notified cases (both clinical and laboratory confirmed) had begun to decline in 2001 from ~700 to ~550 in 2003. In 2008 ~280 cases were notified. Laboratory confirmed serogroup C meningococcal cases declined from 162 cases in 2002 to 14 in 2007. There have been 7 vaccine failures reported, 5 of which were in the 2-4 years age group. Herd-effects are evident across all age-groups, including adults not targeted by the program and older adolescents where coverage was low. Serogroup B meningococci now account for ~85% of all laboratory confirmed notifications in Australia. In 2005 substantial legislative changes were introduced in Australia which altered the funding process for vaccines. The quadrivalent conjugate meningococcal vaccines and serogroup B meningococcal vaccines, which are not currently registered for use in Australia, will now be required to meet a number of stringent criteria in order to be funded via the NIP.

Author(s): Jane Jelfs, B. Hull, G. Lawrence, P. McIntyre

Starvation and Oxidative Stress as an Inductor of Ciprofloxacin Resistance

Volume 71, Dec 2015

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Abstract: Mutation rate of bacteria is often affected by environmental conditions. Various stress such starvation, oxidative or radiating stress can result in increased frequency of mutations leading to antibiotic resistance. The aim of this work was to determine the mutation frequency leading to ciprofloxacin resistance induced by depleted media and hydrogen peroxide and to find molecular determinants of ciprofloxacin resistance in selected mutants. Methods: Oxidative stress was evoked by 3h cultivation of S. typhimurium with hydrogen peroxide in 3 concentrations (0.4, 0.8, 2, 4 mM). Starvation was studied after incubation (3h) of bacteria in control Luria-Bertani medium (LB) and in nutritionally depleted media 10%LB and Nutrient broth No. 1. Resistant strains were counted on agar plates supplemented with ciprofloxacin (0.06 mg/ml) after 72 h of incubation at 37?C. The frequency of resistant mutants (resistance index RI) represents mean number of resistant cells divided by the total number of viable cells per culture. Data represent the mean of three independent experiments; each experiment was made in five parallels and statistically evaluated by Students t-test. Mutations in gyrA were determined using AS-PCR-RFLP method. Levels of outer membrane porin F were detected with SDS-PAGE. Results: Short-term cultivation in 10% LB caused 430 fold increase of RI while in Nutrient broth No.1 it was only 57 fold rise. In ciprofloxacin-resistant strains generated by long-term starvation were detected decreased levels of OmpF protein. With rising dose of H2O2 was RI increasing up to 33-fold of spontaneous mutation frequency to ciprofloxacin resistance. In nutritionally depleted medium with H2O2 has mutation frequency increased more than 103-time. 80% of resistant strains had mutation in gyrA. 37% of them had mutation in codon Ser-83 and 63% in codon Asp-87. Conclusions: 1) Starvation increases mutagenesis leading to ciprofloxacin resistance. 2) Short-term treatment of S.typhimurium in nutritionally depleted media caused higher increase of ciprofloxacin RI than long-term incubation.3) Long-term starvation is leading to decreased levels of OmpF. 4) Oxidative stress induced by H2O2 in conjunction with lack of nutrients in environment increases mutation frequency to ciprofloxacin resistance. 5) Majority of ciprofloxacin-resistant strains generated by H2O2 has mutation in gyrA gene.

Author(s): BIROSOVA L, MIKULASOVA M

Constructing Social Networks in Modern Ireland (C.1750-c.1940) Using ACQ

Volume 71, Dec 2015

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Abstract: The Associational Culture in Ireland (ACI) project at NUI Maynooth explores the culture of Irish associational life from 1750 to 1940, not merely from the point of view of who, what, where and when, but also to examine the ?hidden culture of social networking that operated behind many clubs and societies throughout the period. Recently commissioned government research on civic engagement and active citizenship in Ireland has highlighted the paucity of data available for establishing ?trends in volunteering, civic participation, voting and social contact in Ireland (Taskforce on Active Citizenship, Background Working Paper, 2007, p. 2). The same research has also confi rmed the importance in Ireland of informal social networking compared to many other economically developed countries (Report of the Taskforce on Active Citizenship, 2007). The objective of the ACI project is to provide a resource to enable scholars of Irish social and political life to reconstruct and highlight the role that the wider informal community information fi eld played in the public sphere in Ireland from the mid-eighteenth century. The project will also provide long-term quantitative digital data on associational culture in Ireland which is compatible with sophisticated statistical analysis, thereby enabling researchers to overcome one of the hindrances of modern-day purpose based social surveys: the short timeframe of data currently available.

Author(s): Jennifer Kelly, John G. Keating

TRUST AND COOPERATION BETWEEN NOVICE TEACHER AND MENTOR DURING THE INDUCTION YEAR

Volume 71, Dec 2015

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Abstract: The induction year has been included in preschool teacher preparation to support novice teachers professional growth in Estonia since 2005. The research in this field has concentrated on the experiences of and outcomes of the induction year for novice teachers, the results have been used to develop the teacher education as well as the induction year. The present paper focuses on the practices in the mentoring process and the trust between novice teachers and their mentors as vital aspects in supporting professional growth. Altogether 19 young teachers and their mentors completed the questionnaires twice ? at the beginning and at the end of the induction year. Additional interviews were conducted with 15 teacher-mentor pairs. The participants stressed confidentiality, open communication, and frequent contacts as the main bases of trust. The level of trust appeared generally high; some changes were reported during the induction year. Novice teachers and mentors generally agreed on the frequencies of different practices in their relationship with one exception ? mentees reported less frequent sharing of mentors own experiences than the mentors did. The sharing of materials, talking about the mentees achievements, and analysing the mentees teaching methods were the most frequent practices. The results help to improve the induction year program and the training of mentors.

Author(s): Kristiina Tropp , Airi Niilo , Anne Raam

The Malicious Insider: Approaching Organizational Crisis Management, Culture and Change

Volume 71, Dec 2015

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Abstract: Currently, security professionals, managers, investors and policy makers view insider threats as crucial problem raising diverse and manifold effects, exemplarily substantial financial and legal consequences, image damage, but also organizational consequences (e.g. new security responsibilities or positions, increasing efforts towards awareness of employees etc.). Thus, ?organizational insiders (employees and other stakeholders who have physical and/or logical access to organizational assets)? (Alfawaz et al. 2010) might cause enormous threats to an organization. Several scholars (e.g. Erlinger et al. 2009; Botta et al. 2007; Beznosov & Beznosova 2007) refer to the special need to understand the impact of organizational and human influencing factors on information security in organizations. They argue that technological factors are not the main key to ensure effectiveness of information security. Additionally, the current market downturn and possibly a difficult financial and ?emotional situation of employees and managers (e.g. fear of termination, uncertain or existence threatening situation of the employing organization etc.) may increase the potential and liability of malicious insider opportunities and acts and therefore lead to expanded organization vulnerabilities. Beside possible influences on insider behavior based on the current financial crisis, aspects of organizational culture and related management practices may play a certain role as well. Security in organizations is for example influenced by managements understanding of information security issues and executive and line managements ownership and accountability for implementing, reporting and monitoring on information security (see e.g. ISACA 2006). Based on this outlined initial situation, the present paper aims on an analysis of 1) vulnerability to organizational crisis, possible factors of success and warning indicators, 2) the role of organizational culture and management practices on employees behavior, as well as 3) related change factors with a potentially positive influence to avoid criminal insider acts.

Author(s): Ulrike Hugl

Identifying adaptive genetic diversity in relation to environmental variation: association genetics in Brassicaceae

Volume 71, Dec 2015

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Abstract: Local adaptation plays an important role in the extension of species? ecological niche to new habitats as a consequence of the change in environmental conditions, such as climate change. Still, the genetic basis of local adaptation is not well understood, especially not in non-model species. To investigate the genomic patterns of local adaptation and their transferability between non-model species, we studied the association of genetic markers to environmental variables in five alpine plant species of the family Brassicaceae, which are related to the fully sequenced model species Arabidopsis thaliana. In this study, we sampled populations of each species in the Swiss Alps and the Jura Mountains and produced amplified fragment length polymorphism (AFLP) markers. After performing outlier analyses, we associated identified outliers to the seven most uncorrelated environmental variables from a set of topo-climatic GIS layers using multiple linear regressions. The analyses detected few loci of putative environmental relevance, of which one, found in Cardamine resedifolia, was selected for sequencing. We sequenced-characterized the genomic environment of this locus and searched for single nucleotide polymorphisms (SNPs) within each of the five species. Identified SNPs were genotyped and tested again for environmental association to infer recurrent patterns of local adaptation in related species. Results suggested that in at least one other species, i.e., Arabis alpina, this locus is environmentally relevant or is linked to a gene under selection. Such findings are useful for modeling future vegetation dynamics and help to identify trends in plant adaptation in alpine ecosystems.

Author(s): Zulliger, Deborah. Schnyder, Elvira. Gugerli, Felix.

Ras as a target for exploratory study of monoterpene perillyl alcohol intranasal administration in patients with recurrent gliomas

Volume 71, Dec 2015

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Abstract: Upon completion of his master?s degree in medical genetics at the Federal Rio de Janeiro University in 2003, Dr Fonseca joined the Laborat?rio de Patologia Celular ? Departamento de Biologia Celular, of the Federal Fluminense University where he directed research in basic c?ncer research with translational research. This led to the development of invention of new approach for delivery drugs for malignant gliomas. He concludes PhD Thesis ?Exploratory study of monoterpene perillyl alcohol intranasal administration in patients with recurrent gliomas? in 2007. Dr Fonseca pioneered a new technology, intranasal administration of monoterpene perillyl alcohol. Intranasal administration of perillyl alcohol is not only an unique delivery method, but the use of perillyl alcohol as a novel chemotherapeutic agent inhibiting the ras pathway is extremely exciting. His results have demonstrated that intranasal perillyl alcohol will soon be able technique in armamentarium against malignant gliomas (Da Fonseca et al 2006; Da Fonseca et al 2006; Da Fonseca et al in press). It is expected that this work will lead development of methods for combine drugs with different therapeutic targets.

Author(s): DA FONSECA CO

THE ECONOMIC CRISIS INFLUENCE ON SELECTED AGRICULTURAL INDICATORS IN SLOVAK REPUBLIC

Volume 71, Dec 2015

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Abstract: The present economic situation in highly developed world countries can be influenced by the great economic crisis to a great extend. The most of economic sectors recorded the expressive break of ecomonic results in consequence of great working places decrease, great fall of revenue from sales and the consequential fall of demand and private investments. The Slovak republic has recorded the expressive fall of economic results mainly at following sectors ? machinery and automotive industry, building industry and agriculture. The following article can analyzes the development of job vacancies and also the development of gross nominal wage in the consequence of individual sectors of Slovak national economy.

Author(s): Katar?na Jankacka, Michal Fabus

The Visual Ecology of Cephalopods

Volume 71, Dec 2015

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Abstract: The coleoid cephalopods (octopus, cuttlefish and squid) are a highly advanced group of voracious marine predators endowed with a remarkable visual system. Most species spear to be monochromatic, however they possess orthogonally-arranged microvilli on their photoreceptors, providing sensitivity to polarized light. Retinal specialisations, such as horizontal bands, have been identified in several species, possibly providing higher levels of visual acuity and sensitivity to corresponding areas in their visual field. Coleoids possess a stunning repertoire of body patterns due to highly pigmented and changeable skin, which are used primarily for communication and camouflage. This study aims to conduct a comparative analysis of the visual ecology of coleoid cephalopods, comparing visual characteristics with both habitat and ecological niche. This will reveal whether environmental or phylogenetic pressures are primarily driving the evolution of their visual system. Functional polarization sensitivity will be demonstrated using an optomotor/optokinetic apparatus. Polarizing skin patterns will be analysed using polarimetry and spectrometry. Retinal structure and photoreceptor dimensions will be analysed to identify areas of specialisation and calculate sensitivity.

Author(s): Talbot CM, Collin SP, Norman M, Marshall J

Runoff Redistribution Among Woodland Vegetation Patches: Assessing the Optimal Source-Sink Area Rati

Volume 71, Dec 2015

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Abstract: A central tenant of ecohydrology in drylands is that runoff redistribution concentrates the key limiting resource of water, which can then enhance vegetation growth and biomass. Conversely, a reduction in vegetation patches can lead to a threshold-like response: bare patches become highly interconnected, triggering an increase in hillslope runoff and erosion. However, assessing how maximization of runon to vegetation patches relates to minimization of hillslope runoff, and applying these principles to improve the woodland management requires additional research. To illustrate how runoff redistribution potentially changes in response to conversion of vegetation patches to bare ones, we used a spatially distributed model, SPLASH (Simulator for Processes at the Landscape-Surface-Subsurface Hydrology), with an example of a semiarid pi?on-juniper woodland hillslope with seven combinations of bare and vegetation patch cover, culminating in complete loss of herbaceous patches, for a 1-year design storm. The amount of hillslope runoff increased curvilinearly with reductions in herbaceous cover as runoff per cell increased from bare patches and runon per cell increased for herbaceous patches. Notably, total amount of runon to herbaceous patches was greatest when amount of bare cover was intermediate, highlighting a tradeoff between source and sink area. Our results certainly depends on several site-specific conditions, but the general nature of the response may be indicative of a general type of response applicable to many woodland. We suggest that the assessing of the optimal source: sink area ratio could be valuable for managing woodland, preventing hillslope-scale degradation and, potencially, maximizing productivity.

Author(s): Urgeghe, Anna M.. Breshears, David D.. Martens, Scott N.. Beeson, Peter C.

Misoprostol and Postpartum Hemorrhage

Volume 71, Dec 2015

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Abstract: Every year more than half a million women lose their lives because of complications of pregnancy and childbirth. Postpartum hemorrhage is the leading cause of death especially in developing countries. Strategies have been developed to prevent and treat postpartum hemorrhage. One of these is the use of uterotonic drugs to prevent and treat atonic postpartum hemorrhage. Misoprostol (prostaglandin E1 analogue) has been emerged as an uterotonic drug with special advantages; being heat stable, can be used orally and rather cheap. So, it can be considered as a potential "Magic Bullet" in the management of postpartum hemorrhage. Because of this potentiality, World Health Organization has been conducting big multicentre randomized clinical trials to evaluate efficacy and safety of misoprostol in the prevention and treatment of postpartum hemorrhage. The findings and implications of these trials will be presented and discussed.

Author(s): ABDEL-ALEEM H