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https://www.readbyqxmd.com/read/28636006/copper-ion-interaction-with-the-rnase-catalytic-site-fragment-of-the-angiogenin-protein-an-experimental-and-theoretical-investigation
#1
Antonio Magrì, Giovanni Tabbì, Raffaella Breglia, Luca De Gioia, Piercarlo Fantucci, Maurizio Bruschi, Raffaele P Bonomo, Diego La Mendola
The angiogenin protein (Ang) is a member of the vertebrate-specific secreted ribonucleases and one of the most potent angiogenic factors known. Ang is a normal constituent of human plasma and its concentration increases under some physiological and pathological conditions to promote neovascularization. Ang was originally identified as an angiogenic tumour factor, but its biological activity has been found to extend from inducing angiogenesis to promoting cell survival in different neurodegenerative diseases...
June 21, 2017: Dalton Transactions: An International Journal of Inorganic Chemistry
https://www.readbyqxmd.com/read/28635964/elastically-driven-intermittent-microscopic-dynamics-in-soft-solids
#2
Mehdi Bouzid, Jader Colombo, Lucas Vieira Barbosa, Emanuela Del Gado
Soft solids with tunable mechanical response are at the core of new material technologies, but a crucial limit for applications is their progressive aging over time, which dramatically affects their functionalities. The generally accepted paradigm is that such aging is gradual and its origin is in slower than exponential microscopic dynamics, akin to the ones in supercooled liquids or glasses. Nevertheless, time- and space-resolved measurements have provided contrasting evidence: dynamics faster than exponential, intermittency and abrupt structural changes...
June 21, 2017: Nature Communications
https://www.readbyqxmd.com/read/28635949/non-coding-variants-contribute-to-the-clinical-heterogeneity-of-ttr-amyloidosis
#3
Andrea Iorio, Antonella De Lillo, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti, Mario Sabatelli, Luca Pradotto, Alessandro Mauro, Anna Mazzeo, Claudia Stancanelli, Federico Perfetto, Sabrina Frusconi, Filomena My, Dario Manfellotto, Maria Fuciarelli, Renato Polimanti
Coding mutations in TTR gene cause a rare hereditary form of systemic amyloidosis, which has a complex genotype-phenotype correlation. We investigated the role of non-coding variants in regulating TTR gene expression and consequently amyloidosis symptoms. We evaluated the genotype-phenotype correlation considering the clinical information of 129 Italian patients with TTR amyloidosis. Then, we conducted a re-sequencing of TTR gene to investigate how non-coding variants affect TTR expression and, consequently, phenotypic presentation in carriers of amyloidogenic mutations...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28634697/in-psoriatic-arthritis-dkk-1-and-pth-are-lower-than-in-rheumatoid-arthritis-and-healthy-controls
#4
Angelo Fassio, Luca Idolazzi, Ombretta Viapiana, Camilla Benini, Elisabetta Vantaggiato, Francesco Bertoldo, Maurizio Rossini, Davide Gatti
Psoriatic Arthritis (PsA) is characterized by bone erosive damage often associated with exuberant bone formation especially in enthesial sites. Dkk-1 and sclerostin are the main inhibitors of the WNT/β-catenin signaling pathway and play a key role in the regulation of both bone formation and resorption. We performed this study in order to compare the serum levels of the WNT-pathway regulators along with bone turnover markers (BTM) and parathyroid hormone (PTH) between three different groups: one group of female patients affected by PsA, one group of female patients affected by rheumatoid arthritis (RA), and healthy female controls (HC)...
June 20, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28634220/tidal-changes-on-ct-and-progression-of-ards
#5
Maurizio Cereda, Yi Xin, Hooman Hamedani, Giacomo Bellani, Stephen Kadlecek, Justin Clapp, Luca Guerra, Natalie Meeder, Jennia Rajaei, Nicholas J Tustison, James C Gee, Brian P Kavanagh, Rahim R Rizi
BACKGROUND: Uncertain prediction of outcome in acute respiratory distress syndrome (ARDS) impedes individual patient management and clinical trial design. OBJECTIVES: To develop a radiological metric of injurious inflation derived from matched inspiratory and expiratory CT scans, calibrate it in a model of experimental lung injury, and test it in patients with ARDS. METHODS: 73 anaesthetised rats (acid aspiration model) were ventilated (protective or non-protective) for up to 4 hours to generate a spectrum of lung injury...
June 20, 2017: Thorax
https://www.readbyqxmd.com/read/28634103/undetectable-mannose-binding-lectin-and-corticosteroids-increase-serious-infection-risk-in-rheumatoid-arthritis
#6
Graeme J Carroll, Krista Makin, Maxine Garnsey, Max Bulsara, Bronwyn V Carroll, Shona M Curtin, Erin M Allan, Andrew McLean-Tooke, Christine Bundell, Monica L Kemp, Pooja Deshpande, Dana Ihdayhid, Sophie Coleman, Tracie Easter, James Triplett, Timothy Disteldorf, C Helen Marsden, Michaela Lucas
BACKGROUND: Infection is the leading cause of death in rheumatoid arthritis (RA). Corticosteroid (CS) use is a known and important risk factor for serious infections (SIs). Mannose binding lectin (MBL) is a genetically determined component of the innate immune system implicated in neonatal infections. OBJECTIVE: Our aim was to determine whether MBL deficiency is a risk factor for SIs in RA and to compare it with CS use and also synthetic and biologic disease-modifying antirheumatic drug (DMARD) therapy...
June 17, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28633726/small-bowel-intussusception-in-a-pregnant-woman-a-case-report
#7
Roxana Covali, Lucian Ambrosie, Micea Onofriescu, Alexandru Luca, Gabriela Dumachita-Sargu, Violeta Aursulesei, Dumitru Gafitanu
INTRODUCTION: Intussusception usually is associated with children, rarely with adults. CASE PRESENTATION: A 42-year-old pregnant woman (29 weeks' gestation) reported mild pain in the upper aspect of the abdomen after an intense physical effort. Ultrasound examination found a normally evolving pregnancy and a bowel obstacle, without bowel distention. Because it was not a surgical emergency at the time of evaluation, she was sent to the hospital's Obstetrics Department...
2017: Permanente Journal
https://www.readbyqxmd.com/read/28633507/digenic-duox1-and-duox2-mutations-in-cases-with-congenital-hypothyroidism
#8
Zehra Aycan, Hakan Cangul, Marina Muzza, Veysel N Bas, Laura Fugazzola, V Krishna Chatterjee, Luca Persani, Nadia Schoenmakers
Context: The DUOX2 enzyme generates hydrogen peroxide (H2O2), a crucial electron acceptor for the TPO-catalyzed iodination and coupling reactions mediating thyroid hormone biosynthesis. DUOX2 mutations result in dyshormonogenetic Congenital Hypothyroidism (CH) which may be phenotypically heterogeneous, leading to the hypothesis that CH severity may be influenced by environmental factors (eg dietary iodine) and oligogenic modifiers (eg variants in the homologous NADPH-oxidase DUOX1). However, loss of function mutations in DUOX1 have not hitherto been described and its role in thyroid biology remains undefined...
June 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28633380/epigallocatechin-3-gallate-and-related-phenol-compounds-redirect-the-amyloidogenic-aggregation-pathway-of-ataxin-3-towards-non-toxic-aggregates-and-prevent-toxicity-in-neural-cells-and-caenorhabditis-elegans-animal-model
#9
Cristina Visentin, Francesca Pellistri, Antonino Natalello, Jacopo Vertemara, Marcella Bonanomi, Elena Gatta, Amanda Penco, Annalisa Relini, Luca De Gioia, Cristina Airoldi, Maria E Regonesi, Paolo Tortora
The protein ataxin-3 (ATX3) triggers an amyloid-related neurodegenerative disease when its polyglutamine stretch is expanded beyond a critical threshold. We formerly demonstrated that the polyphenol epigallocatechin-3-gallate (EGCG) could redirect amyloid aggregation of a full-length, expanded ATX3 (ATX3-Q55) towards non-toxic, soluble, SDS-resistant aggregates. Here, we have characterized other related phenol compounds, although smaller in size, i.e., (-)-epigallocatechin gallate (EGC), and gallic acid (GA)...
June 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28633348/lifelong-arrhythmic-risk-stratification-in-arrhythmogenic-right-ventricular-cardiomyopathy-distribution-of-events-and-impact-of-periodical-reassessment
#10
Chiara Cappelletto, Davide Stolfo, Antonio De Luca, Bruno Pinamonti, Giulia Barbati, Alberto Pivetta, Marco Gobbo, Francesca Brun, Marco Merlo, Gianfranco Sinagra
Aims: The arrhythmic risk stratification of arrhythmogenic right ventricular cardiomyopathy (ARVC) remains controversial. We evaluated the long-term distribution of life-threatening arrhythmic events assessing the impact of periodical risk reassessment. Methods and results: Ninety-eight ARVC patients with no previous major ventricular arrhythmias were retrospectively analysed. Patients were assessed at baseline, at 22 [inter-quartile range (IQR) 16-26], 49 (IQR 41-55) and 97 months (IQR 90-108)...
June 13, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28633196/tight-junction-strand-formation-by-claudin-10-isoforms-and-claudin-10a-10b-chimeras
#11
Susanne Milatz, Jörg Piontek, Caroline Hempel, Luca Meoli, Christoph Grohe, Anja Fromm, In-Fah M Lee, Rukeia El-Athman, Dorothee Günzel
Claudins are integral components of tight junctions (TJs) in epithelia and endothelia. When expressed in cell lines devoid of TJs, claudins are able to form TJ-like strands at contacts between adjacent cells. According to a current model of TJ strand formation, claudin protomers assemble in an antiparallel double row within the plasma membrane of each cell (cis-interaction) while binding to corresponding double rows from the neighboring cells (trans-interaction). Cis-interaction was proposed to involve two interfaces of the protomers' first extracellular segment (extracellular loop (ECL)1)...
June 20, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28633184/peritoneal-dialysis-catheter-position-evaluated-by-ultrasound-can-it-replace-abdomen-x-ray-in-patients-presenting-catheter-misplacement
#12
Matthias Zeiler, Luca Zanoli, Rosalia Viviana Scarfia, Stefano Santarelli, Antonio Granata
Background Malfunction of the peritoneal dialysis catheter is frequently caused by dislocation. The diagnostic approach is classically based on abdomen X-ray together with detailed case history and physical examination. Despite being rarely applied in clinical practice to evaluate catheter misplacement, ultrasound is a noninvasive, radiation-free technique that is potentially useful also to explore reasons for catheter malfunction. Consequently, we aimed to evaluate the diagnostic accuracy of ultrasound to identify peritoneal catheter misplacement...
June 20, 2017: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/28633091/cyclic-alternating-pattern-and-interictal-epileptiform-discharges-during-morning-sleep-after-sleep-deprivation-in-temporal-lobe-epilepsy
#13
Filippo Sean Giorgi, Michelangelo Maestri, Melania Guida, Luca Carnicelli, Lorenzo Caciagli, Raffaele Ferri, Ubaldo Bonuccelli, Enrica Bonanni
PURPOSE: Sleep deprivation (SD) increases the occurrence of interictal epileptiform discharges (IED) compared to basal EEG in temporal lobe epilepsy (TLE). In adults, EEG after SD is usually performed in the morning after SD. We aimed to evaluate whether morning sleep after SD bears additional IED-inducing effects compared with nocturnal physiological sleep, and whether changes in sleep stability (described by the cyclic alternating pattern-CAP) play a significant role. METHODS: Adult patients with TLE underwent in-lab night polysomnography (n-PSG) and, within 7days from n-PSG, they underwent also a morning EEG after night SD (SD-EEG)...
June 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28632967/prevalence-and-orthopedic-management-of-foot-and-ankle-deformities-in-charcot-marie-tooth-disease
#14
Matilde Laurá, Dishan Singh, Gita Ramdharry, Jasper Morrow, Mariola Skorupinska, Davide Pareyson, Joshua Burns, Richard A Lewis, Steve Scherer, David N Herrmann, Nicholas Cullen, Christopher Bradish, Luca Gaiani, Nicolò Martinelli, Paul Gibbons, Glenn Pfeffer, Phinit Phisitkul, Keith Wapner, James Sanders, Sam Flemister, Michael E Shy, Mary M Reilly
INTRODUCTION: Foot deformities are frequent complications in Charcot-Marie-Tooth disease (CMT) patients, often requiring orthopedic surgery. However there are no prospective randomized studies on surgical management, and there is variation in the approache between centers in the same country and between different countries. METHODS: We assessed the frequency of foot deformities and surgery among patients recruited to the Inherited Neuropathies Consortium (INC). We also designed a survey addressed to orthopedic surgeons at INC centers to determine whether surgical approaches to orthopedic complications in CMT are variable...
June 20, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28632583/incremental-balloon-deflation-following-complete-resuscitative-endovascular-balloon-occlusion-of-the-aorta-results-in-steep-inflection-of-flow-and-rapid-reperfusion-in-a-large-animal-model-of-hemorrhagic-shock
#15
Anders J Davidson, Rachel M Russo, Sarah-Ashley E Ferencz, Jeremy W Cannon, Todd E Rasmussen, Lucas P Neff, M Austin Johnson, Timothy K Williams
INTRODUCTION: To avoid potential cardiovascular collapse after resuscitative endovascular balloon occlusion of the aorta (REBOA), current guidelines recommend methodically deflating the balloon for 5 minutes to gradually reperfuse distal tissue beds. However, anecdotal evidence suggests that this approach may still result in unpredictable aortic flow rates and hemodynamic instability. We sought to characterize aortic flow dynamics following REBOA as the balloon is deflated in accordance with current practice guidelines...
July 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28632582/the-effect-of-resuscitative-endovascular-balloon-occlusion-of-the-aorta-partial-aortic-occlusion-and-aggressive-blood-transfusion-on-traumatic-brain-injury-in-a-swine-multiple-injuries-model
#16
M Austin Johnson, Timothy K Williams, Sarah-Ashley E Ferencz, Anders J Davidson, Rachel M Russo, William T O'Brien, Joseph M Galante, J Kevin Grayson, Lucas P Neff
BACKGROUND: Despite clinical reports of poor outcomes, the degree to which resuscitative endovascular balloon occlusion of the aorta (REBOA) exacerbates traumatic brain injury (TBI) is not known. We hypothesized that combined effects of increased proximal mean arterial pressure (pMAP), carotid blood flow (Qcarotid), and intracranial pressure (ICP) from REBOA would lead to TBI progression compared with partial aortic occlusion (PAO) or no intervention. METHODS: Twenty-one swine underwent a standardized TBI via computer Controlled cortical impact followed by 25% total blood volume rapid hemorrhage...
July 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28632327/photosensitivity-is-an-early-marker-of-neuronal-ceroid-lipofuscinosis-type-2-disease
#17
Nicola Specchio, Marcello Bellusci, Nicola Pietrafusa, Marina Trivisano, Luca de Palma, Federico Vigevano
OBJECTIVE: This study aimed to identify early clinical, magnetic resonance imaging (MRI), and electroencephalographic (EEG) characteristics of neuronal ceroid lipofuscinosis type 2 (CLN2) disease to enable early diagnosis, thus providing the key to early treatment, and optimized care and outcomes. METHODS: Retrospective clinical chart review of a series of patients diagnosed with CLN2 disease from 2005 to 2015 at a single center in Italy. Clinical, MRI, and EEG findings were reviewed...
June 20, 2017: Epilepsia
https://www.readbyqxmd.com/read/28632202/genome-wide-association-study-of-borderline-personality-disorder-reveals-genetic-overlap-with-bipolar-disorder-major-depression-and-schizophrenia
#18
S H Witt, F Streit, M Jungkunz, J Frank, S Awasthi, C S Reinbold, J Treutlein, F Degenhardt, A J Forstner, S Heilmann-Heimbach, L Dietl, C E Schwarze, D Schendel, J Strohmaier, A Abdellaoui, R Adolfsson, T M Air, H Akil, M Alda, N Alliey-Rodriguez, O A Andreassen, G Babadjanova, N J Bass, M Bauer, B T Baune, F Bellivier, S Bergen, A Bethell, J M Biernacka, D H R Blackwood, M P Boks, D I Boomsma, A D Børglum, M Borrmann-Hassenbach, P Brennan, M Budde, H N Buttenschøn, E M Byrne, P Cervantes, T-K Clarke, N Craddock, C Cruceanu, D Curtis, P M Czerski, U Dannlowski, T Davis, E J C de Geus, A Di Florio, S Djurovic, E Domenici, H J Edenberg, B Etain, S B Fischer, L Forty, C Fraser, M A Frye, J M Fullerton, K Gade, E S Gershon, I Giegling, S D Gordon, K Gordon-Smith, H J Grabe, E K Green, T A Greenwood, M Grigoroiu-Serbanescu, J Guzman-Parra, L S Hall, M Hamshere, J Hauser, M Hautzinger, U Heilbronner, S Herms, S Hitturlingappa, P Hoffmann, P Holmans, J-J Hottenga, S Jamain, I Jones, L A Jones, A Juréus, R S Kahn, J Kammerer-Ciernioch, G Kirov, S Kittel-Schneider, S Kloiber, S V Knott, M Kogevinas, M Landén, M Leber, M Leboyer, Q S Li, J Lissowska, S Lucae, N G Martin, F Mayoral-Cleries, S L McElroy, A M McIntosh, J D McKay, A McQuillin, S E Medland, C M Middeldorp, Y Milaneschi, P B Mitchell, G W Montgomery, G Morken, O Mors, T W Mühleisen, B Müller-Myhsok, R M Myers, C M Nievergelt, J I Nurnberger, M C O'Donovan, L M O Loohuis, R Ophoff, L Oruc, M J Owen, S A Paciga, B W J H Penninx, A Perry, A Pfennig, J B Potash, M Preisig, A Reif, F Rivas, G A Rouleau, P R Schofield, T G Schulze, M Schwarz, L Scott, G C B Sinnamon, E A Stahl, J Strauss, G Turecki, S Van der Auwera, H Vedder, J B Vincent, G Willemsen, C C Witt, N R Wray, H S Xi, A Tadic, N Dahmen, B H Schott, S Cichon, M M Nöthen, S Ripke, A Mobascher, D Rujescu, K Lieb, S Roepke, C Schmahl, M Bohus, M Rietschel
Borderline personality disorder (BOR) is determined by environmental and genetic factors, and characterized by affective instability and impulsivity, diagnostic symptoms also observed in manic phases of bipolar disorder (BIP). Up to 20% of BIP patients show comorbidity with BOR. This report describes the first case-control genome-wide association study (GWAS) of BOR, performed in one of the largest BOR patient samples worldwide. The focus of our analysis was (i) to detect genes and gene sets involved in BOR and (ii) to investigate the genetic overlap with BIP...
June 20, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28632155/microbiota-inflammation-and-colorectal-cancer
#19
REVIEW
Cécily Lucas, Nicolas Barnich, Hang Thi Thu Nguyen
Colorectal cancer, the fourth leading cause of cancer-related death worldwide, is a multifactorial disease involving genetic, environmental and lifestyle risk factors. In addition, increased evidence has established a role for the intestinal microbiota in the development of colorectal cancer. Indeed, changes in the intestinal microbiota composition in colorectal cancer patients compared to control subjects have been reported. Several bacterial species have been shown to exhibit the pro-inflammatory and pro-carcinogenic properties, which could consequently have an impact on colorectal carcinogenesis...
June 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28632105/obstacle-avoidance-increases-asymmetry-of-crossing-step-in-individuals-with-parkinson-s-disease-and-neurologically-healthy-individuals
#20
Fabio Augusto Barbieri, Lucas Simieli, Diego Orcioli-Silva, André Macari Baptista, Mayara Borkowske Pestana, Victor Spiandor Beretta, Paulo Cezar Rocha Dos Santos, Lilian Teresa Bucken Gobbi
The authors' aim was to investigate gait asymmetry of crossing step during obstacle avoidance while walking in people with Parkinson's disease (PD) under and without the effects of dopaminergic medication. Thirteen individuals with PD and 13 neurologically healthy individuals performed 5 trials of unobstructed gait and 10 trials of obstacle crossing during gait (5 trials with each leg) and spatiotemporal parameters were analyzed. Obstacle crossing increased step duration of the crossing step for the most-affected or nondominant limb compared to the crossing step with the least-affected or dominant limb...
March 2, 2017: Journal of Motor Behavior
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