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https://www.readbyqxmd.com/read/28649509/fabry-disease-four-case-reports-of-meningioma-and-a-review-of-the-literature-on-other-malignancies
#1
Beth L Thurberg, Dominique P Germain, Fernando Perretta, Iulia E Jurca-Simina, Juan M Politei
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by loss of function mutations in the GLA gene at Xq22 with subsequent functional deficiency of alpha-galactosidase A, resulting in the accumulation of globotriaosylceramide (GL-3 or Gb3) in multiple cells types throughout the body. As with other rare metabolic disorders, little is known about the incidence of malignancies in these populations and the relationship to the underlying disease, if any. We report the occurrence of meningioma in four female patients with Fabry disease...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28646936/surgical-flow-disruptions-during-robotic-assisted-radical-prostatectomy
#2
Christopher J Dru, Jennifer T Anger, Colby P Souders, Catherine Bresee, Matthias Weigl, Elyse Hallett, Ken Catchpole
INTRODUCTION: We sought to apply the principles of human factors research to robotic-assisted radical prostatectomy to understand where training and integration challenges lead to suboptimal and inefficient care. MATERIALS AND METHODS: Thirty-four robotic-assisted radical prostatectomy and bilateral pelvic lymph node dissections over a 20 week period were observed for flow disruptions (FD) - deviations from optimal care that can compromise safety or efficiency. Other variables - physician experience, trainee involvement, robot model (S versus Si), age, body mass index (BMI), and American Society of Anesthesiologists (ASA) physical status - were used to stratify the data and understand the effect of context...
June 2017: Canadian Journal of Urology
https://www.readbyqxmd.com/read/28641266/an-approach-to-identifying-phenomena-accompanying-micro-and-nanoparticles-in-contact-with-irregular-vessel-walls
#3
K Talaska, A Ferreira
OBJECTIVE: The objective of this manuscript is to present the method for determining the nature and values of the forces needed to set micro and nanoparticles sitting immobile at the blood vessel wall in motion. METHODS: The problem was tackled in two ways. Microparticles were examined as objects coming into contact with the wall with the actual large arteriole-type vessel structure. The forces acting on microparticles 10 μm, 30 μm and 50 μm in diameter were determined: drag force FD, lift force FL, electrostatic force FE and gravity force FG...
June 19, 2017: IEEE Transactions on Nanobioscience
https://www.readbyqxmd.com/read/28640711/effects-of-season-and-postmortem-changes-on-blood-analytes-in-pyrenean-chamois-rupicapra-pyrenaica
#4
Asta Tvarijonaviciute, Ignasi Marco, Rafaela Cuenca, Santiago Lavín, Josep Pastor
Our objectives were to evaluate the effects of the 1) season, and 2) postmortem changes on serum biochemistries related with metabolism in Pyrenean chamois (Rupicapra pyrenaica pyrenaica). Serum samples from 98 animals obtained from 2009 to 2012 were included. To investigate seasonal influences on blood parameters, the Pyrenean chamois were captured in drive-nets during the feed abundant (FA; n=32) and food deficient (FD; n=35) seasons. To evaluate the possible differences in biochemistry analytes when sampling live or dead animals, we used serum samples from 32 captured animals and 31 dead animals (obtained during controlled hunting) in the FA season...
June 22, 2017: Journal of Wildlife Diseases
https://www.readbyqxmd.com/read/28635269/the-reduction-potentials-of-fefe-hydrogenase-accessory-iron-sulfur-clusters-provide-insights-into-the-energetics-of-proton-reduction-catalysis
#5
Jacob H Artz, David W Mulder, Michael W Ratzloff, Carolyn E Lubner, Oleg A Zadvornyy, Axl X LeVan, S Garrett Williams, Michael W W Adams, Anne K Jones, Paul W King, John W Peters
An [FeFe]-hydrogenase from Clostridium pasteurianum, CpI, is a model system for biological H2 activation. In addition to the catalytic H-cluster, CpI contains four accessory iron-sulfur [FeS] clusters in a branched series that transfer electrons to and from the active site. In this work, potentiometric titrations have been employed in combination with electron paramagnetic resonance (EPR) spectroscopy at defined electrochemical potentials to gain insights into the role of the accessory clusters in catalysis...
June 21, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28634390/increased-glutamate-in-somatosensory-cortex-in-functional-dyspepsia
#6
Arthur D P Mak, Georg Northoff, David K W Yeung, Winnie C W Chu, Steve C N Hui, Cynthia Cheung, Jessica Ching, Linda Lam, Sing Lee, Justin Wu
Functional Dyspepsia-Post-prandial Distress Syndrome (FD-PDS) was associated with mood-related increases in resting activity and lowered activation threshold in the somatosensory cortex (SSC), insula and perigenual anterior cingulate cortex(pgACC) in functional imaging studies. The underlying cortical neurochemical changes are unknown. We performed proton Magnetic Resonance Spectroscopy (1H-MRS) on 17 consecutive tertiary clinic-recruited psychotropic-naïve Rome III FD-PDS female and 17 age-sex matched healthy controls...
June 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28633140/early-intrauterine-transfusion-in-fetuses-with-severe-anemia-caused-by-parvovirus-b19-infection
#7
Astrid Hellmund, Annegret Geipel, Christoph Berg, Rainer Bald, Ulrich Gembruch
OBJECTIVE: To describe procedure-related complications and perinatal survival after intrauterine transfusion (IUT) before 20 weeks of gestation in fetuses with severe anemia due to human parvovirus B19 infection. MATERIALS AND METHODS: A retrospective study was conducted of all fetuses requiring IUT before 20 weeks of gestation in two tertiary referral centers between January 2002 and July 2015. Gestational age (GA) at first IUT, fetal blood sampling results, and presence of hydrops were related to procedure-related complications, fetal death (FD), and perinatal outcome...
June 21, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28632552/comparative-study-of-c-arms-for-intraoperative-3-dimensional-imaging-and-navigation-in-minimally-invasive-spine-surgery-part-ii-radiation-exposure
#8
Jan-Helge Klingler, Ronen Sircar, Christian Scheiwe, Evangelos Kogias, Marie T Krüger, Christoph Scholz, Ulrich Hubbe
STUDY DESIGN: A radiation exposure study in vitro. OBJECTIVE: This study aimed to compare the radiation exposure of 2 different 3-dimensional (3D) C-arm devices on an anthropomorphic phantom. SUMMARY OF BACKGROUND DATA: Minimally invasive pedicle screw placement requires intraoperative imaging techniques for visualization of the unexposed spine. Mobile 3D C-arms compose a 3D image data set out of multiple successive fluoroscopic images. METHODS: We compared the 3D C-arm devices Siremobil Iso-C 3D (Siemens Sector Healthcare, Erlangen, Germany) and Vision FD Vario 3D (Ziehm Imaging, Nuremberg, Germany) regarding their radiation exposure...
July 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28632551/comparative-study-of-c-arms-for-intraoperative-3-dimensional-imaging-and-navigation-in-minimally-invasive-spine-surgery-part-i-applicability-and-image-quality
#9
Jan-Helge Klingler, Ronen Sircar, Christian Scheiwe, Evangelos Kogias, Florian Volz, Marie T Krüger, Ulrich Hubbe
STUDY DESIGN: This was a retrospective analysis. OBJECTIVE: This study compares 2 different 3-dimensional (3D) C-arm devices for intraoperative imaging and navigation with regard to clinical applicability and image quality. SUMMARY OF BACKGROUND DATA: Minimally invasive spine surgery requires intraoperative imaging techniques to adequately visualize the unexposed spine. For this purpose, mobile 3D C-arms became available along with the evolution of intraoperative navigation techniques...
July 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28631728/acg-and-cag-clinical-guideline-management-of-dyspepsia
#10
Paul M Moayyedi, Brian E Lacy, Christopher N Andrews, Robert A Enns, Colin W Howden, Nimish Vakil
We have updated both the American College of Gastroenterology (ACG) and the Canadian Association of Gastroenterology (CAG) guidelines on dyspepsia in a joint ACG/CAG dyspepsia guideline. We suggest that patients ≥60 years of age presenting with dyspepsia are investigated with upper gastrointestinal endoscopy to exclude organic pathology. This is a conditional recommendation and patients at higher risk of malignancy (such as spending their childhood in a high risk gastric cancer country or having a positive family history) could be offered an endoscopy at a younger age...
June 20, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28630648/comparative-metabolic-profiling-of-the-lipid-producing-green-microalga-chlorella-reveals-that-nitrogen-and-carbon-metabolic-pathways-contribute-to-lipid-metabolism
#11
Hui Chen, Yanli Zheng, Jiao Zhan, Chenliu He, Qiang Wang
Microalgae are a promising feedstock for biofuel production. Microalgal metabolic pathways are heavily influenced by environmental factors. For instance, lipid metabolism can be induced by nitrogen-limiting conditions. However, the underlying mechanisms of lipid biosynthesis are unclear. In this study, we analyzed the global metabolic profiles of three genetically closely related Chlorella strains (C1, C2, and C3) with significant differences in lipid productivity to identify the contributions of key metabolic pathways to lipid metabolism...
2017: Biotechnology for Biofuels
https://www.readbyqxmd.com/read/28629565/a-tri-exponential-model-for-intravoxel-incoherent-motion-analysis-of-the-human-kidney-in-silico-and-during-pharmacological-renal-perfusion-modulation
#12
René van der Bel, Oliver J Gurney-Champion, Martijn Froeling, Erik S G Stroes, Aart J Nederveen, C T Paul Krediet
In the kidneys, there is both blood flow through the capillaries and flow of pre-urine through the tubuli and collecting ducts. We hypothesized that diffusion-weighted (DW) MRI measures both blood and pre-urine flow when using a tri-exponential intravoxel incoherent motion (IVIM) model. Our aim was to systematically investigate and optimize tri-exponential IVIM-analysis for the kidney and test its sensitivity to renal perfusion changes in humans. The tri-exponential fit probes the diffusion coefficient (D), the intermediate (D*i) and fast (D*f) pseudo-diffusion coefficients, and their signal fractions, fD, fi and ff...
June 2017: European Journal of Radiology
https://www.readbyqxmd.com/read/28627289/snap-n-send-a-valid-and-reliable-method-for-assessing-the-energy-intake-of-elite-adolescent-athletes
#13
Nessan Costello, Kevin Deighton, Joshua Dyson, Jim Mckenna, Ben Jones
To ensure that elite adolescent athletes meet their unique training, growth and maturation demands, it is imperative to have access to valid measures of energy intake. Contemporary methods demand close attention-to-detail, meaning that athletes often do not fully adhere to real-time protocols. This study represents the first investigation of a real-time dietary assessment designed using a comprehensive behaviour change framework (COM-B). In a crossover design, 12 elite adolescent male rugby players recorded their energy intake via an estimated food diary (est-FD) and photography-based mobile assessment ('Snap-n-Send'), combined with a 24-h dietary recall interview...
June 17, 2017: European Journal of Sport Science
https://www.readbyqxmd.com/read/28625627/a-multicenter-randomized-phase-3-trial-comparing-fixed-dose-versus-toxicity-adjusted-dose-of-cisplatin-etoposide-in-extensive-small-cell-lung-cancer-sclc-patients-the-small-cell-lung-cancer-toxicity-adjusted-dosing-stad-1-trial
#14
Alessandro Morabito, Gennaro Daniele, Raffaele Costanzo, Adolfo Gino Favaretto, Virgilio Filipazzi, Antonio Rossi, Vittorio Gebbia, Federico Castiglione, Luigi Cavanna, Evaristo Maiello, Claudia Sandomenico, Laura Bonanno, Elena Piazza, Paolo Maione, Maria Carmela Piccirillo, Massimo Di Maio, Gaetano Rocco, Ciro Gallo, Francesco Perrone, Cesare Gridelli
OBJECTIVES: Data supporting the prognostic role of chemotherapy induced haematological toxicity suggest that toxicity-adjusted-dosing (TAD) of chemotherapy might improve treatment efficacy. We tested whether TAD of the cisplatin-etoposide combination might improve the response rate, in previously untreated extensive stage disease (ED)-SCLC patients, as compared with standard fixed-dosing (FD). METHODS: Patients with ED-SCLC were randomized to receive either TAD or FD of cisplatin-etoposide as first-line treatment...
June 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/28624416/influence-of-a-small-amount-of-glycerol-on-the-trehalose-bioprotective-action-analyzed-in-situ-during-freeze-drying-of-lyzozyme-formulations-by-micro-raman-spectroscopy
#15
Tatiana Starciuc, Yannick Guinet, Laurent Paccou, Alain Hedoux
Micro-Raman spectroscopy gives the original opportunity to monitor simultaneously the operating process and the protein structure from in-situ investigations along the three stages of the freeze-drying (FD) process. This opportunity was used for determining how a small amount of glycerol enhances the bioprotective efficiency of trehalose during freeze-drying of lysozyme formulations. Three lysozyme formulations were analyzed: lysozyme dissolved in D2O (wt% 1:9), in Trehalose-D2O mixture (wt% 1:1:8) and in the Trehalose-Glycerol-D2O mixture (wt% 1:1:0...
June 14, 2017: Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28623286/trait-choice-profoundly-affected-the-ecological-conclusions-drawn-from-functional-diversity-measures
#16
Linhai Zhu, Bojie Fu, Huoxing Zhu, Cong Wang, Lei Jiao, Ji Zhou
Although trait choice is crucial to quantify functional diversity appropriately, the quantitative methods for it are rarely compared and discussed. Meanwhile, very little is known about how trait choice affects ecological conclusions drawn from functional diversity measures. We presented the four methods of trait selection as alternatives to the ordination axis-based method, which directly identify a subset of key traits to represent the main variation of all the traits. To evaluate their performance, we compared the closeness of association obtained by different methods between species richness and functional diversity indices (FAD, FD, Q, FDis) in the six ecosystems...
June 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28622644/study-on-the-occurrence-of-polycyclic-aromatic-hydrocarbons-in-milk-and-meat-fish-based-baby-food-available-in-italy
#17
Serena Santonicola, Stefania Albrizio, Nicoletta Murru, Maria Carmela Ferrante, Raffaelina Mercogliano
The study compared the profile of 14 polycyclic aromatic hydrocarbons, frequently occurred in food, in milk (N = 22) and meat/fish based (N = 18) baby foods available on the Italian market. PAH total levels, markers (Regulation EC/835/2011) and carcinogenic PAHs were determined by high- performance liquid chromatography with fluorescence detector (HPLC-FD). The average of total PAHs was 52.25 μg kg(-1) in milk and 11.82 μg kg(-1) in meat/fish based baby foods. The levels of PAH markers were higher than the permissible EU limits of 1 μg kg(-1) in 18...
June 6, 2017: Chemosphere
https://www.readbyqxmd.com/read/28622529/automatic-multimodal-detection-for-long-term-seizure-documentation-in-epilepsy
#18
F Fürbass, S Kampusch, E Kaniusas, J Koren, S Pirker, R Hopfengärtner, H Stefan, T Kluge, C Baumgartner
OBJECTIVE: This study investigated sensitivity and false detection rate of a multimodal automatic seizure detection algorithm and the applicability to reduced electrode montages for long-term seizure documentation in epilepsy patients. METHODS: An automatic seizure detection algorithm based on EEG, EMG, and ECG signals was developed. EEG/ECG recordings of 92 patients from two epilepsy monitoring units including 494 seizures were used to assess detection performance...
May 25, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28621538/discovery-of-highly-potent-and-selective-small-molecule-reversible-factor-d-inhibitors-demonstrating-alternative-complement-pathway-inhibition-in-vivo
#19
Edwige Lorthiois, Karen Anderson, Anna Vulpetti, Olivier Rogel, Frederic Cumin, Nils Ostermann, Stefan Steinbacher, Aengus Mac Sweeney, Omar Delgado, Sha-Mei Liao, Stefan Randl, Simon Rüdisser, Solene Dussauge, Kamal Fettis, Laurence Kieffer, Andrea de Ekernez, Louis Yang, Constanze Hartwieg, Upendra A Argikar, Laura R LaBonte, Ronald Newton, Viral Kansara, Stefanie Flohr, Ulrich Hommel, Bruce Jaffee, Jürgen Maibaum
The highly specific S1 serine protease Factor D (FD) plays a central role in the amplification of the complement alternative pathway (AP) of the innate immune system. Genetic associations in humans have implicated AP activation in age-related macular degeneration (AMD), and AP dysfunction predisposes individuals to disorders such as paroxysmal nocturnal hemoglobinuria (PNH) and atypical hemolytic uremic syndrome (aHUS). The combination of structure-based hit identification and subsequent optimization of the center (S)-proline-based lead 7 has led to the discovery of non-covalent reversible and selective human Factor D (FD) inhibitors with drug-like properties...
June 16, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28618999/biomarkers-for-diagnosing-and-staging-of-fabry-disease
#20
Johannes Krämer, Frank Weidemann
BACKGROUND: Fabry disease is a X-linked lysosomal storage disorder caused by deficient activity of α -galactosidase A which leads to progressive intracellular accumulation of globotriaosylceramide in tissues and organs including heart, kidney, vascular endothelium, the nervous system, the eyes and the skin. Cardiac involvement is common, leads to fatal complications and is mainly responsible for reduced life expectancy in Fabry disease. The exact staging of disease progression and timely initiation of treatment is essential in Fabry disease...
June 16, 2017: Current Medicinal Chemistry
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