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Damjan Glavač, Martina Jarc-Vidmar, Katarina Vrabec, Metka Ravnik-Glavač, Ana Fakin, Marko Hawlina
PURPOSE: To determine the spectrum of BEST1 mutations and to study the phenotype in Slovenian families with Best vitelliform macular dystrophy (BVMD) to identify genotype-phenotype correlations. METHODS: Twenty patients from five families underwent the ophthalmological examination including electrooculogram (EOG; N = 17), fundus autofluorescence imaging (N = 16) and optical coherence tomography (N = 14). Mutational screening was performed by direct DNA sequencing of the BEST1 gene...
October 24, 2016: Acta Ophthalmologica
Johannes J Kovarik, Chantal Kopecky, Marlies Antlanger, Oliver Domenig, Christopher C Kaltenecker, Johannes Werzowa, Manfred Hecking, Stephane Mahr, Martina Grömmer, Christoph Wallner, Klaus Aumayr, Renate Kain, Andreas Zuckermann, Marko Poglitsch, Marcus D Säemann
BACKGROUND: Angiotensin-converting enzyme (ACE) inhibitors (ACEis) are beneficial in patients with heart failure, yet their role after heart transplantation (HTx) remains ambiguous. Particularly, the effects of ACEis on plasma and cardiac metabolites of the "classical" and "alternative" renin-angiotensin system (RAS) in HTx patients are unknown. METHODS: This cross-sectional study used a novel mass spectrometry-based approach to analyze plasma and tissue RAS regulation in homogenates of heart biopsy specimens from 10 stable HTx patients without RAS blockade and in 15 patients with ACEi therapy...
September 13, 2016: Journal of Heart and Lung Transplantation
Seyi Latunde-Dada, Rachel Bott, Jack Crozier, Markos Trikeriotis, Oksana Iryna Leszczyszyn, David Goodall
Taylor dispersion analysis (TDA) is an absolute method for determining the diffusion coefficients, and hence the hydrodynamic radii, of particles by measuring the dispersion in a carrier medium flowing within a capillary. It is applicable under conditions which allow the particles to radially diffuse appreciably across the cross-section of the flow before the measurement and therefore implies long measurement times are required for large particles with small diffusion coefficients. In this paper, a method has been developed by which the diffusion coefficients of large particles can be rapidly estimated from the shapes of the concentration profiles obtained at much earlier measurement times...
October 13, 2016: Journal of Chromatography. A
Larisa Tratnjek, Marko Živin, Gordana Glavan
Synaptotagmin 7 (SYT7) is ubiquitously expressed calcium sensor, involved in neuronal membrane trafficking. Immunoprecipitation experiments demonstrated that SYT7 interacts with Synaptotagmin-binding, cytoplasmic RNA-interacting protein (SYNCRIP). SYNCRIP is a component of mRNA granules, which are transported to dendrites and are prerequisite for synaptic plasticity. Given the potential significance of SYT7 regulation in processes of neurodegeneration, which are characterized by high level of synaptic vulnerability, we aimed to analyse and compare the distribution of SYT7 and SYNCRIP proteins in the adult rat striatum, hippocampus, cerebral and cerebellar cortex...
October 19, 2016: Journal of Chemical Neuroanatomy
Darija Vukić Lušić, Slaven Jozić, Arijana Cenov, Marin Glad, Marko Bulić, Dražen Lušić
Bathing Water Directive (2006/7/EC) specifies two reference methods for Escherichia coli detection: ISO 9308-1 and 9308-3. The revised ISO 9308-1 is recommended only for waters with a low bacterial background flora. Considering the extended time needed for analysis and, generally, the lack of experience in using ISO 9308-3 in the Mediterranean, the suitability of ISO 9308-1 for the examination of E. coli in bathing water was evaluated. The present study was aimed at a comparison of data obtained by the reference method in seawater samples (110 beaches, N=477) with data received from six alternative methods...
October 19, 2016: Marine Pollution Bulletin
Daniel A Patten, Garrick K Wilson, Dalan Bailey, Robert K Shaw, Sirpa Jalkanen, Marko Salmi, Antal Rot, Christopher J Weston, David H Adams, Shishir Shetty
: The recruitment of lymphocytes via the hepatic sinusoidal channels and positioning within liver tissue is a critical event in the development and persistence of chronic inflammatory liver diseases. The hepatic sinusoid is a unique vascular bed lined by hepatic sinusoidal endothelial cells (HSEC), a functionally and phenotypically distinct sub-population of endothelial cells. Using flow based adhesion assays to study the migration of lymphocytes across primary human HSEC, we found that lymphocytes enter into HSEC, confirmed by electron microscopy demonstrating clear intracellular localization of lymphocytes in vitro and by studies in human liver tissues...
October 22, 2016: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Marko Popovic, Varun Chaudhary, Bryon R McKay, Prima Moinul, Mohammad Mohaghagh, Anne Beattie, Mark Fava, Dalia Eino, Keith Mann, Lawrence Kobetz, Joshua Barbosa
OBJECTIVE: The purpose of this study was to investigate the extent of agreement between physicians and patients in reporting ocular history and to determine whether there are any predictive factors for physician-patient consensus. DESIGN: Retrospective chart review. PARTICIPANTS: Between June and September 2014, adult patients undergoing cataract surgery were recruited for the study. METHODS: Before surgery, patient demographics and self-reported ocular history were extracted from a prospectively collected database...
October 2016: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
Stefan Schmidt, Andreas Taeger, Jérôme Morinière, Andrew Liston, Stephan M Blank, Katja Kramp, Manfred Kraus, Olga Schmidt, Erik Heibo, Marko Prous, Tommi Nyman, Tobias Malm, Julie Stahlhut
The 'Symphyta' is a paraphyletic assemblage at the base of the order Hymenoptera, comprising 14 families and about 8,750 species. All have phytophagous larvae, except for the Orussidae, which are parasitoids. This study presents and evaluates the results of DNA barcoding of approximately 5,360 specimens of 'Symphyta', mainly adults, and 4,362 sequences covering 1,037 species were deemed of suitable quality for inclusion in the analysis. All extant families are represented, except for the Anaxyelidae. The majority of species and specimens are from Europe, but approximately 38% of the species and 13% of the specimens are of non-European origin...
October 21, 2016: Molecular Ecology Resources
Helena Lenasi, Markos Klonizakis
Diabetes mellitus (DM) is associated with cardiovascular complications. Impairment of glycemic control induces noxious glycations, an increase in oxydative stress and dearangement of various metabolic pathways. DM leads to dysfunction of micro and macrovessels, connected to metabolic, endothelial and autonomic nervous system. Thus, assessing vascular reactivity might be one of the clinical tools to evaluate the impact of harmful effects of DM and potential benefit of treatment; skin and skeletal muscle microcirculation have usually been tested...
October 18, 2016: Clinical Hemorheology and Microcirculation
Katariina Pärnänen, Antti Karkman, Manu Tamminen, Christina Lyra, Jenni Hultman, Lars Paulin, Marko Virta
Antibiotic resistance genes are ubiquitous in the environment. However, only a fraction of them are mobile and able to spread to pathogenic bacteria. Until now, studying the mobility of antibiotic resistance genes in environmental resistomes has been challenging due to inadequate sensitivity and difficulties in contig assembly of metagenome based methods. We developed a new cost and labor efficient method based on Inverse PCR and long read sequencing for studying mobility potential of environmental resistance genes...
October 21, 2016: Scientific Reports
Marko Bumbaširević, Tomislav Palibrk, Henry Dushan E Atkinson, Aleksandar Lešić
OBJECTIVES: To evaluate the safety and efficacy of the Ilizarov fine-wire compression/distraction technique in the treatment of scaphoid nonunion (SNU), without the use of bone graft. DESIGN: This is a prospective study of 20 consecutive patients in one center. PATIENTS AND METHODS: This study included 20 patients (19 males) with a mean SNU duration of 14.5 months. Four patients had proximal pole, 15 had waist, and 1 had a distal SNU. Patients with carpal instability, humpback deformities, carpal collapse, avascular necrosis, and marked degenerative change were excluded...
October 20, 2016: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
Aki S Havulinna, Marko Sysi-Aho, Mika Hilvo, Dimple Kauhanen, Reini Hurme, Kim Ekroos, Veikko Salomaa, Reijo Laaksonen
OBJECTIVE: Ceramides are molecular lipids implicated in apoptosis, inflammation, obesity, and insulin resistance. An earlier study reported that ceramides were associated with fatal outcome among patients with coronary heart disease. Here, we examined whether ceramides are associated with major adverse cardiovascular events (MACEs) among apparently healthy individuals. APPROACH AND RESULTS: FINRISK 2002 is a population-based risk factor survey, which recruited men and women aged 25 to 74 years...
October 20, 2016: Arteriosclerosis, Thrombosis, and Vascular Biology
Alex R Hardisty, Finn Bacall, Niall Beard, Maria-Paula Balcázar-Vargas, Bachir Balech, Zoltán Barcza, Sarah J Bourlat, Renato De Giovanni, Yde de Jong, Francesca De Leo, Laura Dobor, Giacinto Donvito, Donal Fellows, Antonio Fernandez Guerra, Nuno Ferreira, Yuliya Fetyukova, Bruno Fosso, Jonathan Giddy, Carole Goble, Anton Güntsch, Robert Haines, Vera Hernández Ernst, Hannes Hettling, Dóra Hidy, Ferenc Horváth, Dóra Ittzés, Péter Ittzés, Andrew Jones, Renzo Kottmann, Robert Kulawik, Sonja Leidenberger, Päivi Lyytikäinen-Saarenmaa, Cherian Mathew, Norman Morrison, Aleksandra Nenadic, Abraham Nieva de la Hidalga, Matthias Obst, Gerard Oostermeijer, Elisabeth Paymal, Graziano Pesole, Salvatore Pinto, Axel Poigné, Francisco Quevedo Fernandez, Monica Santamaria, Hannu Saarenmaa, Gergely Sipos, Karl-Heinz Sylla, Marko Tähtinen, Saverio Vicario, Rutger Aldo Vos, Alan R Williams, Pelin Yilmaz
BACKGROUND: Making forecasts about biodiversity and giving support to policy relies increasingly on large collections of data held electronically, and on substantial computational capability and capacity to analyse, model, simulate and predict using such data. However, the physically distributed nature of data resources and of expertise in advanced analytical tools creates many challenges for the modern scientist. Across the wider biological sciences, presenting such capabilities on the Internet (as "Web services") and using scientific workflow systems to compose them for particular tasks is a practical way to carry out robust "in silico" science...
October 20, 2016: BMC Ecology
Natasa M Milic, Srdjan Masic, Jelena Milin-Lazovic, Goran Trajkovic, Zoran Bukumiric, Marko Savic, Nikola V Milic, Andja Cirkovic, Milan Gajic, Mirjana Kostic, Aleksandra Ilic, Dejana Stanisavljevic
BACKGROUND: The scientific community increasingly is recognizing the need to bolster standards of data analysis given the widespread concern that basic mistakes in data analysis are contributing to the irreproducibility of many published research findings. The aim of this study was to investigate students' attitudes towards statistics within a multi-site medical educational context, monitor their changes and impact on student achievement. In addition, we performed a systematic review to better support our future pedagogical decisions in teaching applied statistics to medical students...
2016: PloS One
Thiago Hérick Sá, Ana Clara Duran, Marko Tainio, Carlos Augusto Monteiro, James Woodcock
The purpose of the study was to describe cyclists and cycling trips, and to explore correlates, time trends and health consequences of cycling in São Paulo, Brazil from 1997 to 2012. Cross-sectional analysis using repeated São Paulo Household Travel Surveys (HTS). At all time periods cycling was a minority travel mode in São Paulo (1174 people with cycling trips out of 214,719 people). Poisson regressions for individual correlates were estimated using the entire 2012 HTS sample. Men were six times more likely to cycle than women...
December 2016: Preventive Medicine Reports
Mustafa İnan, Andrei Racu, Marko Bjeloševiča, Nazarii Hryniv
No abstract text is available yet for this article.
September 2016: Balkan Medical Journal
Raffaella Sordella, Nitin H Shirole, Debjani Pal, Edward R Kastenhuber, Serif Senturk, Joseph Boroda, Paola Pisterzi, Madison Miller, Gustavo Munoz, Marko Anderluh, Marc Ladanyi, Scott W Lowe
TP53 truncating mutations are common in human tumors and are thought to give rise to p53-null alleles. Here, we show that TP53 exon-6 truncating mutations occur at higher than expected frequencies and produce proteins that lack canonical p53 tumor suppressor activities but promote cancer cell proliferation, survival, and metastasis. Functionally and molecularly, these p53 mutants resemble the naturally occurring alternative p53 splice variant, p53-psi. Accordingly, these mutants can localize to mitochondria where they promote tumor phenotypes by binding and activating the mitochondria inner pore permeability regulator, Cyclophilin D (CypD)...
October 19, 2016: ELife
Manuela Kellner, Marko Heidrich, Raoul-Amadeus Lorbeer, Georgios C Antonopoulos, Lars Knudsen, Christoph Wrede, Nicole Izykowski, Roman Grothausmann, Danny Jonigk, Matthias Ochs, Tammo Ripken, Mark P Kühnel, Heiko Meyer
Correlative analysis requires examination of a specimen from macro to nano scale as well as applicability of analytical methods ranging from morphological to molecular. Accomplishing this with one and the same sample is laborious at best, due to deformation and biodegradation during measurements or intermediary preparation steps. Furthermore, data alignment using differing imaging techniques turns out to be a complex task, which considerably complicates the interconnection of results. We present correlative imaging of the accessory rat lung lobe by combining a modified Scanning Laser Optical Tomography (SLOT) setup with a specially developed sample preparation method (CRISTAL)...
October 19, 2016: Scientific Reports
Annukka Pietikäinen, Mikael Maksimow, Tommi Kauko, Saija Hurme, Marko Salmi, Jukka Hytönen
BACKGROUND: Lyme neuroborreliosis (LNB) is one of the manifestations of Lyme disease. Although it is known that immune reaction of LNB patients is dominated by Th1 and Th2 responses and patients have elevated numbers of B cells in their cerebrospinal fluid (CSF), not all the cells involved in inflammation and cytokine secretion have been characterized. The current diagnostics of LNB is based on intrathecal production of antibodies. In recent years, the measurement of chemokine CXCL13 concentration from the CSF has been introduced as a new promising diagnostic tool for LNB to complement the antibody-based diagnostic methods...
October 18, 2016: Journal of Neuroinflammation
Marko Poglitsch, Ashraf H Ahmed, Andrea Stoller, Dunja Van Oyen, Cornelia Schwager, Claudia Aigner, Oliver Domenig, Manuel Haschke, Michael Stowasser
OBJECTIVE: Primary aldosteronism (PA) is a widely under-diagnosed, potentially curable and specifically treatable cause of hypertension. PA screening involves measuring the aldosterone-to-renin-ratio (ARR), but false negative results can occur in the setting of medications, which block the renin-angiotensin system (RAS). Withdrawing RAS blockers from patients with resistant hypertension is not without cardiovascular risk. A novel diagnostic approach, the aldosterone-to-angiotensin-II-ratio (AA2-Ratio), has the potential for less drug interference and improved reliability in PA screening and confirmation of diagnosis...
September 2016: Journal of Hypertension
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