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https://www.readbyqxmd.com/read/28087732/novel-gnb1-mutations-disrupt-assembly-and-function-of-g-protein-heterotrimers-and-cause-global-developmental-delay-in-humans
#1
Katja Lohmann, Ikuo Masuho, Dipak N Patil, Hauke Baumann, Eva Hebert, Sofia Steinrücke, Daniel Trujillano, Nickolas K Skamangas, Valerija Dobricic, Irina Hüning, Gabriele Gillessen-Kaesbach, Ana Westenberger, Dusanka Savic-Pavicevic, Alexander Münchau, Gabriela Oprea, Christine Klein, Arndt Rolfs, Kirill A Martemyanov
Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de-novo mutations in neuronally expressed genes are a common scenario. These mutations can be best identified by exome sequencing of parent-offspring trios. De novo mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) gene, encoding the Gβ1 subunit of heterotrimeric G proteins, have recently been identified as a novel genetic cause of GDD...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087725/neurodevelopmental-outcomes-of-extremely-low-birthweight-infants-randomised-to-different-pco2-targets-the-phelbi-follow-up-study
#2
Ulrich H Thome, Orsolya Genzel-Boroviczeny, Bettina Bohnhorst, Manuel Schmid, Hans Fuchs, Oliver Rohde, Stefan Avenarius, Hans-Georg Topf, Andrea Zimmermann, Dirk Faas, Katharina Timme, Barbara Kleinlein, Horst Buxmann, Wilfried Schenk, Hugo Segerer, Norbert Teig, Annett Bläser, Roland Hentschel, Matthias Heckmann, Rolf Schlösser, Jochen Peters, Rainer Rossi, Wolfgang Rascher, Ralf Böttger, Jürgen Seidenberg, Gesine Hansen, Maria Zernickel, Harald Bode, Jens Dreyhaupt, Rainer Muche, Helmut D Hummler
BACKGROUND: Tolerating higher partial pressures of carbon dioxide (PCO2) in mechanically ventilated extremely low birthweight infants to reduce ventilator-induced lung injury may have long-term neurodevelopmental side effects. This study analyses the results of neurodevelopmental follow-up of infants enrolled in a randomised multicentre trial. METHODS: Infants (n=359) between 400 and 1000 g birth weight and 23 0/7-28 6/7 weeks gestational age who required endotracheal intubation and mechanical ventilation within 24 hours of birth were randomly assigned to high PCO2 or to a control group with mildly elevated PCO2 targets...
January 13, 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/28086884/transfer-factor-for-carbon-monoxide-in-patients-with-copd-and-diabetes-results-from-the-german-cosyconet-cohort
#3
Kathrin Kahnert, Tanja Lucke, Frank Biertz, Andreas Lechner, Henrik Watz, Peter Alter, Robert Bals, Jürgen Behr, Rolf Holle, Rudolf M Huber, Stefan Karrasch, Beate Stubbe, Margarethe Wacker, Sandra Söhler, Emiel F M Wouters, Claus Vogelmeier, Rudolf A Jörres
BACKGROUND: An impairment of CO diffusing capacity has been shown in diabetic patients without lung disease. We analyzed how diffusing capacity in patients with COPD is affected by the concurrent diagnosis of diabetes. METHODS: Data from the initial visit of the German COPD cohort COSYCONET were used for analysis. 2575 patients with complete lung function data were included, among them 358 defined as diabetics with a reported physician diagnosis of diabetes and/or specific medication...
January 13, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28079273/abnormal-fetal-muscle-forces-result-in-defects-in-spinal-curvature-and-alterations-in-vertebral-segmentation-and-shape
#4
Rebecca A Rolfe, James H Bezer, Tyler Kim, Ahmed Z Zaidon, Michelle L Oyen, James C Iatridis, Niamh C Nowlan
The incidence of congenital spine deformities, including congenital scoliosis, kyphosis and lordosis, may be influenced by the in utero mechanical environment, and particularly by fetal movements at critical time-points. There is a limited understanding of the influence of fetal movements on spinal development, despite the fact that mechanical forces have been shown to play an essential role in skeletal development of the limb. This study investigates the effects of muscle forces on spinal curvature, vertebral segmentation and vertebral shape by inducing rigid or flaccid paralysis in the embryonic chick...
January 12, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28078733/therapeutic-apheresis-in-immunologic-renal-and-neurological-diseases
#5
REVIEW
Rolf Bambauer, Reinhard Latza, Daniel Burgard, Ralf Schiel
Since the mid 1970s, when membrane modules became available, plasma separation techniques have gained in importance especially in the past few years. The advantages of this method are a complete separation of the corpuscular components from the plasma and due to increased blood flow rate and higher efficacy. Systemic autoimmune diseases based on an immune pathogenesis produce autoantibodies and circulating immune complexes, which cause inflammation in the tissues of various organs. In most cases, these diseases have a poor prognosis without treatment...
January 12, 2017: Therapeutic Apheresis and Dialysis
https://www.readbyqxmd.com/read/28077077/estimating-genomic-diversity-and-population-differentiation-an-empirical-comparison-of-microsatellite-and-snp-variation-in-arabidopsis-halleri
#6
Martin C Fischer, Christian Rellstab, Marianne Leuzinger, Marie Roumet, Felix Gugerli, Kentaro K Shimizu, Rolf Holderegger, Alex Widmer
BACKGROUND: Microsatellite markers are widely used for estimating genetic diversity within and differentiation among populations. However, it has rarely been tested whether such estimates are useful proxies for genome-wide patterns of variation and differentiation. Here, we compared microsatellite variation with genome-wide single nucleotide polymorphisms (SNPs) to assess and quantify potential marker-specific biases and derive recommendations for future studies. Overall, we genotyped 180 Arabidopsis halleri individuals from nine populations using 20 microsatellite markers...
January 11, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28076333/surgical-debulking-promotes-recruitment-of-macrophages-and-triggers-glioblastoma-phagocytosis-in-combination-with-cd47-blocking-immunotherapy
#7
Huaiyang Zhu, Lina Leiss, Ning Yang, Cecilie B Rygh, Siddhartha S Mitra, Samuel H Cheshier, Irving L Weissman, Bin Huang, Hrvoje Miletic, Rolf Bjerkvig, Per Ø Enger, Xingang Li, Jian Wang
Surgical resection is a standard component of treatment in the clinical management of patients with glioblastoma multiforme (GBM). However, experimental therapies are rarely investigated in the context of tumor debulking in preclinical models. Here, a surgical debulking GBM xenograft model was developed in nude rats, and was used in combination with CD47 blocking immunotherapy, a novel treatment strategy that triggers phagocytosis of tumor cells by macrophages in diverse cancer types including GBM. Orthotopic patient-derived xenograft tumors expressing CD47 were resected at 4 weeks after implantation and immediately thereafter treated with anti-CD47 or control antibodies injected into the cavity...
January 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28074834/corrigendum-differential-transcriptional-responses-to-ebola-and-marburg-virus-infection-in-bat-and-human-cells
#8
Martin Hölzer, Verena Krähling, Fabian Amman, Emanuel Barth, Stephan H Bernhart, Victor A O Carmelo, Maximilian Collatz, Gero Doose, Florian Eggenhofer, Jan Ewald, Jörg Fallmann, Lasse M Feldhahn, Markus Fricke, Juliane Gebauer, Andreas J Gruber, Franziska Hufsky, Henrike Indrischek, Sabina Kanton, Jörg Linde, Nelly Mostajo, Roman Ochsenreiter, Konstantin Riege, Lorena Rivarola-Duarte, Abdullah H Sahyoun, Sita J Saunders, Stefan E Seemann, Andrea Tanzer, Bertram Vogel, Stefanie Wehner, Michael T Wolfinger, Rolf Backofen, Jan Gorodkin, Ivo Grosse, Ivo Hofacker, Steve Hoffmann, Christoph Kaleta, Peter F Stadler, Stephan Becker, Manja Marz
No abstract text is available yet for this article.
January 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28074528/respiratory-motion-prediction-and-prospective-correction-for-free-breathing-arterial-spin-labeled-perfusion-mri-of-the-kidneys
#9
Hao Song, Dan Ruan, Wenyang Liu, V Andrew Stenger, Rolf Pohmann, Maria A Fernandez Seara, Tejas Nair, Sungkyu Jung, Jingqin Luo, Yuichi Motai, Jingfei Ma, John D Hazle, H Michael Gach
PURPOSE: Respiratory motion prediction using an artificial neural network (ANN) was integrated with pseudocontinuous arterial spin labeling (pCASL) MRI to allow free-breathing perfusion measurements in the kidney. In this study, we evaluated the performance of the ANN to accurately predict the location of the kidneys during image acquisition. METHODS: A pencil-beam navigator was integrated with a pCASL sequence to measure lung/diaphragm motion during ANN training and the pCASL transit delay...
January 11, 2017: Medical Physics
https://www.readbyqxmd.com/read/28073397/identification-of-new-members-of-the-escherichia-coli-k-12-mg1655-slya-regulon
#10
Thomas Curran, Fatima Abacha, Stephen Hibberd, Matthew Rolfe, Melissa Lacey, Jeffrey Green
SlyA is a member of the MarR family of bacterial transcriptional regulators. Previously, SlyA has been shown to directly regulate only two operons in Escherichia coli K-12 MG1655, fimB and hlyE (clyA). In both cases SlyA activates gene expression by antagonizing repression by the nucleoid associated protein H-NS. Here the transcript profiles of aerobic glucose-limited steady-state chemostat cultures of E. coli K-12 MG1655, slyA mutant and slyA over-expression strains are reported. The transcript profile of the slyA mutant was not significantly different to that of the parent; however, that of the slyA expression strain was significantly different from that of the vector control...
January 10, 2017: Microbiology
https://www.readbyqxmd.com/read/28071191/a-radium-compensator-for-ionization-measurements
#11
Rolf M Sievert
No abstract text is available yet for this article.
November 2016: Acta Radiologica
https://www.readbyqxmd.com/read/28070675/-refeeding-syndrome-in-geriatric-patients-a-frequently-overlooked-complication
#12
Rainer Wirth, Rebecca Diekmann, Olga Fleiter, Leonhardt Fricke, Annika Kreilkamp, Mirja Katrin Modreker, Christian Marburger, Stefan Nels, Rolf Schaefer, Heinz-Peter Willschrei, Dorothee Volkert
The refeeding syndrome is a life-threatening complication that can occur after initiation of a nutrition therapy in malnourished patients. If the risk factors and pathophysiology are known, the refeeding syndrome can effectively be prevented and treated, if recognized early. A slow increase of food intake and the close monitoring of serum electrolyte levels play an important role. Because the refeeding syndrome is not well known and the symptoms may vary extremely, this complication is poorly recognized, especially against the background of geriatric multimorbidity...
January 9, 2017: Zeitschrift Für Gerontologie und Geriatrie
https://www.readbyqxmd.com/read/28069828/lpa1-receptor-mediated-thromboxane-a2-release-is-responsible-for-lysophosphatidic-acid-induced-vascular-smooth-muscle-contraction
#13
Péter Tibor Dancs, Éva Ruisanchez, Andrea Balogh, Cecília Rita Panta, Zsuzsanna Miklós, Rolf M Nüsing, Junken Aoki, Jerold Chun, Stefan Offermanns, Gábor Tigyi, Zoltán Benyó
Lysophosphatidic acid (LPA) has been recognized recently as an endothelium-dependent vasodilator, but several lines of evidence indicate that it may also stimulate vascular smooth muscle cells (VSMCs), thereby contributing to vasoregulation and remodeling. In the present study, mRNA expression of all 6 LPA receptor genes was detected in murine aortic VSMCs, with the highest levels of LPA1, LPA2, LPA4, and LPA6 In endothelium-denuded thoracic aorta (TA) and abdominal aorta (AA) segments, 1-oleoyl-LPA and the LPA1-3 agonist VPC31143 induced dose-dependent vasoconstriction...
January 9, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28068617/what-does-the-madrs-mean-equipercentile-linking-with-the-cgi-using-a-company-database-of-mirtazapine-studies
#14
Stefan Leucht, Hein Fennema, Rolf R Engel, Marion Kaspers-Janssen, Peter Lepping, Armin Szegedi
BACKGROUND: Little is known about the clinical relevance of the Montgomery Asberg Depression Rating Scale (MADRS) total scores. It is unclear how total scores translate into clinical severity, or how commonly used measures for response (reduction from baseline of ≥50% in the total score) translate into clinical relevance. Moreover, MADRS based definitions of remission vary. METHODS: We therefore compared: a/ the MADRS total score with the Clinical Global Impression - Severity Score (CGI-S) b/ the percentage and absolute change in the MADRS total scores with Clinical Global Impression - Improvement (CGI-I); c/ the absolute and percentage change in the MADRS total scores with CGI-S absolute change...
December 29, 2016: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28067890/validity-of-visceral-adiposity-estimates-from-dxa-against-mri-in-kuwaiti-men-and-women
#15
A Mohammad, E De Lucia Rolfe, A Sleigh, T Kivisild, K Behbehani, N J Wareham, S Brage, T Mohammad
OBJECTIVES: The prevalence of obesity and diabetes in the Middle East is among the highest in the world. Valid measures of abdominal adiposity are essential to understanding the metabolic consequences of obesity. Dual-energy X-ray absorptiometry (DXA) is increasingly being utilised to assess body composition in population studies, and has recently been used to estimate visceral adipose tissue (VAT). The aim of this study was to determine the accuracy of DXA-derived VAT in a Middle Eastern population using magnetic resonance imaging (MRI) as the criterion measure...
January 9, 2017: Nutrition & Diabetes
https://www.readbyqxmd.com/read/28065708/an-exploratory-propensity-score-matched-comparison-of-second-generation-and-first-generation-baroreflex-activation-therapy-systems
#16
Rolf Wachter, Marcel Halbach, George L Bakris, John D Bisognano, Hermann Haller, Joachim Beige, Abraham A Kroon, Mitra K Nadim, Eric G Lovett, Jill E Schafer, Peter W de Leeuw
Baroreflex activation therapy (BAT) is a device-based therapy for patients with treatment-resistant hypertension. In a randomized, controlled trial, the first-generation system significantly reduced blood pressure (BP) versus sham. Although an open-label validation study of the second-generation system demonstrated similar BP reductions, controlled data are not presently available. Therefore, this investigation compares results of first- and second-generation BAT systems. Two cohorts of first-generation BAT system patients were generated with propensity matching to compare against the validation group of 30 second-generation subjects...
December 16, 2016: Journal of the American Society of Hypertension: JASH
https://www.readbyqxmd.com/read/28065380/iterative-model-reconstruction-reduces-calcified-plaque-volume-in-coronary-ct-angiography
#17
Mihály Károlyi, Bálint Szilveszter, Márton Kolossváry, Richard A P Takx, Csilla Celeng, Andrea Bartykowszki, Ádám L Jermendy, Alexisz Panajotu, Júlia Karády, Rolf Raaijmakers, Walter Giepmans, Béla Merkely, Pál Maurovich-Horvat
OBJECTIVE: To assess the impact of iterative model reconstruction (IMR) on calcified plaque quantification as compared to filtered back projection reconstruction (FBP) and hybrid iterative reconstruction (HIR) in coronary computed tomography angiography (CTA). METHODS: Raw image data of 52 patients who underwent 256-slice CTA were reconstructed with IMR, HIR and FBP. We evaluated qualitative, quantitative image quality parameters and quantified calcified and partially calcified plaque volumes using automated software...
February 2017: European Journal of Radiology
https://www.readbyqxmd.com/read/28062486/plasma-membrane-wounding-and-repair-in-pulmonary-diseases
#18
Xiaofei Cong, Rolf Dieter Hubmayr, Changgong Li, Xiaoli Zhao
Various pathophysiological conditions such as surfactant dysfunction, mechanical ventilation, inflammation, pathogen products, environmental exposures and gastric acid aspiration stress lung cells and the compromise of plasma membranes occur as a result. The mechanisms necessary for cells to repair plasma membrane defects have been extensively investigated in the last two decades, and some of these key repair mechanisms are also shown to occur following lung cell injury. As it was theorized that lung wounding and repair are involved in the pathogenesis of acute respiratory distress syndrome (ARDS) and idiopathic pulmonary fibrosis (IPF), in this review, we summarized the experimental evidence of lung cell injury in these two devastating syndromes, discuss relevant genetic, physical and biological injury mechanisms, as well as mechanisms utilized by lung cells for cell survival and membrane repair...
January 6, 2017: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/28060362/cheating-fosters-species-co-existence-in-well-mixed-bacterial-communities
#19
Anne Leinweber, R Fredrik Inglis, Rolf Kümmerli
Explaining the enormous biodiversity observed in bacterial communities is challenging because ecological theory predicts that competition between species occupying the same niche should lead to the exclusion of less competitive community members. Competitive exclusion should be particularly strong when species compete for a single limiting resource or live in unstructured habitats that offer no refuge for weaker competitors. Here, we describe the 'cheating effect', a form of intra-specific competition that can counterbalance between-species competition, thereby fostering biodiversity in unstructured habitats...
January 6, 2017: ISME Journal
https://www.readbyqxmd.com/read/28060330/hyperpolarized-13c-metabolic-magnetic-resonance-spectroscopy-and-imaging
#20
Eugen Kubala, Kim A Muñoz-Álvarez, Geoffrey Topping, Christian Hundshammer, Benedikt Feuerecker, Pedro A Gómez, Giorgio Pariani, Franz Schilling, Steffen J Glaser, Rolf F Schulte, Marion I Menzel, Markus Schwaiger
In the past decades, new methods for tumor staging, restaging, treatment response monitoring, and recurrence detection of a variety of cancers have emerged in conjunction with the state-of-the-art positron emission tomography with (18)F-fluorodeoxyglucose ([(18)F]-FDG PET). (13)C magnetic resonance spectroscopic imaging ((13)CMRSI) is a minimally invasive imaging method that enables the monitoring of metabolism in vivo and in real time. As with any other method based on (13)C nuclear magnetic resonance (NMR), it faces the challenge of low thermal polarization and a subsequent low signal-to-noise ratio due to the relatively low gyromagnetic ratio of (13)C and its low natural abundance in biological samples...
December 30, 2016: Journal of Visualized Experiments: JoVE
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