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https://www.readbyqxmd.com/read/27911336/decreased-aerobic-capacity-in%C3%A2-ano5-muscular-dystrophy
#1
Emil Ylikallio, Mari Auranen, Ibrahim Mahjneh, Antti Lamminen, Maria Kousi, Ann-Liz Träskelin, Tiina Muurinen, Mervi Löfberg, Tapani Salmi, Anders Paetau, Anna-Elina Lehesjoki, Päivi Piirilä, Sari Kiuru-Enari
BACKGROUND: Anoctaminopathies are muscle diseases caused by recessive mutations in the ANO5 gene. The effects of anoctaminopathy on oxidative capacity have not previously been studied in a controlled setting. OBJECTIVE: To characterize oxidative capacity in a clinically and genetically well-defined series of patients with anoctaminopathy. METHODS: We sequenced the ANO5 gene in 111 Finnish patients with suspected LGMD2. Patients with positive findings underwent close clinical examination, including electromyography, muscle MRI, and, in selected cases, muscle biopsy...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27908689/pcsk9-genetic-variants-and-risk-of-type-2-diabetes-a-mendelian-randomisation-study
#2
Amand F Schmidt, Daniel I Swerdlow, Michael V Holmes, Riyaz S Patel, Zammy Fairhurst-Hunter, Donald M Lyall, Fernando Pires Hartwig, Bernardo Lessa Horta, Elina Hyppönen, Christine Power, Max Moldovan, Erik van Iperen, G Kees Hovingh, Ilja Demuth, Kristina Norman, Elisabeth Steinhagen-Thiessen, Juri Demuth, Lars Bertram, Tian Liu, Stefan Coassin, Johann Willeit, Stefan Kiechl, Karin Willeit, Dan Mason, John Wright, Richard Morris, Goya Wanamethee, Peter Whincup, Yoav Ben-Shlomo, Stela McLachlan, Jackie F Price, Mika Kivimaki, Catherine Welch, Adelaida Sanchez-Galvez, Pedro Marques-Vidal, Andrew Nicolaides, Andrie G Panayiotou, N Charlotte Onland-Moret, Yvonne T van der Schouw, Giuseppe Matullo, Giovanni Fiorito, Simonetta Guarrera, Carlotta Sacerdote, Nicholas J Wareham, Claudia Langenberg, Robert Scott, Jian'an Luan, Martin Bobak, Sofia Malyutina, Andrzej Pająk, Ruzena Kubinova, Abdonas Tamosiunas, Hynek Pikhart, Lise Lotte Nystrup Husemoen, Niels Grarup, Oluf Pedersen, Torben Hansen, Allan Linneberg, Kenneth Starup Simonsen, Jackie Cooper, Steve E Humphries, Murray Brilliant, Terrie Kitchner, Hakon Hakonarson, David S Carrell, Catherine A McCarty, H Lester Kirchner, Eric B Larson, David R Crosslin, Mariza de Andrade, Dan M Roden, Joshua C Denny, Cara Carty, Stephen Hancock, John Attia, Elizabeth Holliday, Martin O' Donnell, Salim Yusuf, Michael Chong, Guillaume Pare, Pim van der Harst, M Abdullah Said, Ruben N Eppinga, Niek Verweij, Harold Snieder, Tim Christen, Dennis O Mook-Kanamori, Stefan Gustafsson, Lars Lind, Erik Ingelsson, Raha Pazoki, Oscar Franco, Albert Hofman, Andre Uitterlinden, Abbas Dehghan, Alexander Teumer, Sebastian Baumeister, Marcus Dörr, Markus M Lerch, Uwe Völker, Henry Völzke, Joey Ward, Jill P Pell, Daniel J Smith, Tom Meade, Anke H Maitland-van der Zee, Ekaterina V Baranova, Robin Young, Ian Ford, Archie Campbell, Sandosh Padmanabhan, Michiel L Bots, Diederick E Grobbee, Philippe Froguel, Dorothée Thuillier, Beverley Balkau, Amélie Bonnefond, Bertrand Cariou, Melissa Smart, Yanchun Bao, Meena Kumari, Anubha Mahajan, Paul M Ridker, Daniel I Chasman, Alex P Reiner, Leslie A Lange, Marylyn D Ritchie, Folkert W Asselbergs, Juan-Pablo Casas, Brendan J Keating, David Preiss, Aroon D Hingorani, Naveed Sattar
BACKGROUND: Statin treatment and variants in the gene encoding HMG-CoA reductase are associated with reductions in both the concentration of LDL cholesterol and the risk of coronary heart disease, but also with modest hyperglycaemia, increased bodyweight, and modestly increased risk of type 2 diabetes, which in no way offsets their substantial benefits. We sought to investigate the associations of LDL cholesterol-lowering PCSK9 variants with type 2 diabetes and related biomarkers to gauge the likely effects of PCSK9 inhibitors on diabetes risk...
November 28, 2016: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/27898078/corrigendum-genetic-variants-associated-with-subjective-well-being-depressive-symptoms-and-neuroticism-identified-through-genome-wide-analyses
#3
Aysu Okbay, Bart M L Baselmans, Jan-Emmanuel De Neve, Patrick Turley, Michel G Nivard, Mark Alan Fontana, S Fleur W Meddens, Richard Karlsson Linnér, Cornelius A Rietveld, Jaime Derringer, Jacob Gratten, James J Lee, Jimmy Z Liu, Ronald de Vlaming, Tarunveer S Ahluwalia, Jadwiga Buchwald, Alana Cavadino, Alexis C Frazier-Wood, Nicholas A Furlotte, Victoria Garfield, Marie Henrike Geisel, Juan R Gonzalez, Saskia Haitjema, Robert Karlsson, Sander W van der Laan, Karl-Heinz Ladwig, Jari Lahti, Sven J van der Lee, Penelope A Lind, Tian Liu, Lindsay Matteson, Evelin Mihailov, Michael B Miller, Camelia C Minica, Ilja M Nolte, Dennis Mook-Kanamori, Peter J van der Most, Christopher Oldmeadow, Yong Qian, Olli Raitakari, Rajesh Rawal, Anu Realo, Rico Rueedi, Börge Schmidt, Albert V Smith, Evie Stergiakouli, Toshiko Tanaka, Kent Taylor, Gudmar Thorleifsson, Juho Wedenoja, Juergen Wellmann, Harm-Jan Westra, Sara M Willems, Wei Zhao, Najaf Amin, Andrew Bakshi, Sven Bergmann, Gyda Bjornsdottir, Patricia A Boyle, Samantha Cherney, Simon R Cox, Gail Davies, Oliver S P Davis, Jun Ding, Nese Direk, Peter Eibich, Rebecca T Emeny, Ghazaleh Fatemifar, Jessica D Faul, Luigi Ferrucci, Andreas J Forstner, Christian Gieger, Richa Gupta, Tamara B Harris, Juliette M Harris, Elizabeth G Holliday, Jouke-Jan Hottenga, Philip L De Jager, Marika A Kaakinen, Eero Kajantie, Ville Karhunen, Ivana Kolcic, Meena Kumari, Lenore J Launer, Lude Franke, Ruifang Li-Gao, David C Liewald, Marisa Koini, Anu Loukola, Pedro Marques-Vidal, Grant W Montgomery, Miriam A Mosing, Lavinia Paternoster, Alison Pattie, Katja E Petrovic, Laura Pulkki-Råback, Lydia Quaye, Katri Räikkönen, Igor Rudan, Rodney J Scott, Jennifer A Smith, Angelina R Sutin, Maciej Trzaskowski, Anna E Vinkhuyzen, Lei Yu, Delilah Zabaneh, John R Attia, David A Bennett, Klaus Berger, Lars Bertram, Dorret I Boomsma, Harold Snieder, Shun-Chiao Chang, Francesco Cucca, Ian J Deary, Cornelia M van Duijn, Johan G Eriksson, Ute Bültmann, Eco J C de Geus, Patrick J F Groenen, Vilmundur Gudnason, Torben Hansen, Catharine A Hartman, Claire M A Haworth, Caroline Hayward, Andrew C Heath, David A Hinds, Elina Hyppönen, William G William, Marjo-Riitta Järvelin, Karl-Heinz Jöckel, Jaakko Kaprio, Sharon L R Kardia, Liisa Keltikangas-Järvinen, Peter Kraft, Laura D Kubzansky, Terho Lehtimäki, Patrik K E Magnusson, Nicholas G Martin, Matt McGue, Andres Metspalu, Melinda Mills, Renée de Mutsert, Albertine J Oldehinkel, Gerard Pasterkamp, Nancy L Pedersen, Robert Plomin, Ozren Polasek, Christine Power, Stephen S Rich, Frits R Rosendaal, Hester M den Ruijter, David Schlessinger, Helena Schmidt, Rauli Svento, Reinhold Schmidt, Behrooz Z Alizadeh, Thorkild I A Sørensen, Tim D Spector, John M Starr, Kari Stefansson, Andrew Steptoe, Antonio Terracciano, Unnur Thorsteinsdottir, A Roy Thurik, Nicholas J Timpson, Henning Tiemeier, André G Uitterlinden, Peter Vollenweider, Gert G Wagner, David R Weir, Jian Yang, Dalton C Conley, George Davey Smith, Albert Hofman, Magnus Johannesson, David I Laibson, Sarah E Medland, Michelle N Meyer, Joseph K Pickrell, Tõnu Esko, Robert F Krueger, Jonathan P Beauchamp, Philipp D Koellinger, Daniel J Benjamin, Meike Bartels, David Cesarini
No abstract text is available yet for this article.
November 29, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27895883/alexithymia-but-not-autism-spectrum-disorder-may-be-related-to-the-production-of-emotional-facial-expressions
#4
Dominic A Trevisan, Marleis Bowering, Elina Birmingham
BACKGROUND: A prominent diagnostic criterion of autism spectrum disorder (ASD) relates to the abnormal or diminished use of facial expressions. Yet little is known about the mechanisms that contribute to this feature of ASD. METHODS: We showed children with and without ASD emotionally charged video clips in order to parse out individual differences in spontaneous production of facial expressions using automated facial expression analysis software. RESULTS: Using hierarchical multiple regression, we sought to determine whether alexithymia (characterized by difficulties interpreting one's own feeling states) contributes to diminished facial expression production...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27894304/brain-inflammation-is-accompanied-by-peripheral-inflammation-in-cstb-mice-a-model-for-progressive-myoclonus-epilepsy
#5
Olesya Okuneva, Zhilin Li, Inken Körber, Saara Tegelberg, Tarja Joensuu, Li Tian, Anna-Elina Lehesjoki
Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is an autosomal recessively inherited childhood-onset neurodegenerative disorder, characterized by myoclonus, seizures, and ataxia. Mutations in the cystatin B gene (CSTB) underlie EPM1. The CSTB-deficient (Cstb (-/-) ) mouse model recapitulates key features of EPM1, including myoclonic seizures. The mice show early microglial activation that precedes seizure onset and neuronal loss and leads to neuroinflammation. We here characterized the inflammatory phenotype of Cstb (-/-) mice in more detail...
November 28, 2016: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/27893033/effect-of-a-decision-aid-on-access-to-total-knee-replacement-for-black-patients-with-osteoarthritis-of-the-knee-a-randomized-clinical-trial
#6
Said A Ibrahim, Marissa Blum, Gwo-Chin Lee, Pekka Mooar, Elina Medvedeva, Aliya Collier, Diane Richardson
Importance: Black patients with advanced osteoarthritis (OA) of the knee are significantly less likely than white patients to undergo surgery. No strategies have been proved to improve access to surgery for black patients with end-stage OA of the knee. Objective: To assess whether a decision aid improves access to total knee replacement (TKR) surgery for black patients with OA of the knee. Design, Setting, and Participants: In a randomized clinical trial, 336 eligible participants who self-identified as black and 50 years or older with chronic and frequent knee pain, a Western Ontario McMaster Universities Osteoarthritis Index score of at least 39, and radiographic evidence of OA of the knee were recruited from December 1, 2010, to May 31, 2014, at 3 medical centers...
November 23, 2016: JAMA Surgery
https://www.readbyqxmd.com/read/27889141/exploring-lot-to-lot-variation-in-spoilage-bacterial-communities-on-commercial-modified-atmosphere-packaged-beef
#7
Elina Säde, Katri Penttinen, Johanna Björkroth, Jenni Hultman
Understanding the factors influencing meat bacterial communities is important as these communities are largely responsible for meat spoilage. The composition and structure of a bacterial community on a high-O2 modified-atmosphere packaged beef product were examined after packaging, on the use-by date and two days after, to determine whether the communities at each stage were similar to those in samples taken from different production lots. Furthermore, we examined whether the taxa associated with product spoilage were distributed across production lots...
April 2017: Food Microbiology
https://www.readbyqxmd.com/read/27888143/dissolution-behavior-of-co-amorphous-amino-acid-indomethacin-mixtures-the-ability-of-amino-acids-to-stabilize-the-supersaturated-state-of-indomethacin
#8
Rami Ojarinta, Aki T Heikkinen, Elina Sievänen, Riikka Laitinen
Arginine, phenylalanine, and tryptophan have been previously shown to improve the solid-state stability of amorphous indomethacin. The present study investigates the ability of these amino acids to prolong the supersaturation of indomethacin in both aqueous and biorelevant conditions either when freely in solution or when formulated as co-amorphous mixtures. The co-amorphous amino acid-indomethacin mixtures (molar ratio 1:1) and amorphous indomethacin were prepared by cryomilling. Dissolution and precipitation tests were performed in buffer solutions (pH 5 and 6...
November 22, 2016: European Journal of Pharmaceutics and Biopharmaceutics
https://www.readbyqxmd.com/read/27888028/identifying-allergic-drug-reactions-through-placebo-controlled-graded-challenges
#9
Melissa Iammatteo, Denisa Ferastraoaru, Rebecca Koransky, Santiago Alvarez-Arango, Niharika Thota, Ayobami Akenroye, Elina Jerschow
BACKGROUND: Graded challenges are performed to exclude hypersensitivity reactions in patients with a low likelihood of drug allergy. Literature regarding optimal protocols with a defined number of steps and use of placebo is lacking. OBJECTIVE: To identify allergic drug reactions (ADRs) through a 3-step protocol composed of placebo followed by a 2-step graded drug challenge. METHODS: We performed a 5-year retrospective chart review of all patients with historical ADRs who underwent single-blind, placebo-controlled graded drug challenges between October 2010 and November 2015 at an outpatient drug allergy clinic...
November 22, 2016: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/27887594/first-trimester-serum-placental-growth-factor-and-hyperglycosylated-human-chorionic-gonadotropin-are-associated-with-pre-eclampsia-a-case-control-study
#10
Elina Keikkala, Sini Koskinen, Piia Vuorela, Hannele Laivuori, Jarkko Romppanen, Seppo Heinonen, Ulf-Håkan Stenman
BACKGROUND: To study whether maternal serum hyperglycosylated human chorionic gonadotropin (hCG-h) improves first trimester prediction of pre-eclampsia when combined with placental growth factor (PlGF), pregnancy-associated plasma protein-A (PAPP-A) and maternal risk factors. METHODS: Gestational-age-adjusted concentrations of hCG, hCG-h, PlGF and PAPP-A were analysed in serum samples by time-resolved immunofluorometric assays at 8-13 weeks of gestation. The case-control study included 98 women who developed pre-eclampsia, 25 who developed gestational hypertension, 41 normotensive women with small-for-gestational-age (SGA) infants and 177 controls...
November 25, 2016: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/27885430/blood-species-discrimination-using-proton-nuclear-magnetic-resonance-spectroscopy
#11
Elina Zailer, Bernd W K Diehl, Yulia B Monakhova
Blood species identification is an important challenge in forensic science. Conventional methods used for blood species analysis are destructive and associated with time-consuming sample preparation steps. Nuclear magnetic resonance (NMR) spectroscopy is known for its nondestructive properties and fast results. This research study presents a proton ((1)H) NMR method to discriminate blood species including human, cat, dog, elephant, and bison. Characteristic signals acting as markers are observed for each species...
November 25, 2016: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/27879284/seipin-regulates-er-lipid-droplet-contacts-and-cargo-delivery
#12
Veijo T Salo, Ilya Belevich, Shiqian Li, Leena Karhinen, Helena Vihinen, Corinne Vigouroux, Jocelyne Magré, Christoph Thiele, Maarit Hölttä-Vuori, Eija Jokitalo, Elina Ikonen
Seipin is an endoplasmic reticulum (ER) membrane protein implicated in lipid droplet (LD) biogenesis and mutated in severe congenital lipodystrophy (BSCL2). Here, we show that seipin is stably associated with nascent ER-LD contacts in human cells, typically via one mobile focal point per LD Seipin appears critical for such contacts since ER-LD contacts were completely missing or morphologically aberrant in seipin knockout and BSCL2 patient cells. In parallel, LD mobility was increased and protein delivery from the ER to LDs to promote LD growth was decreased...
November 22, 2016: EMBO Journal
https://www.readbyqxmd.com/read/27875497/physical-activity-absolute-intensity-vs-relative-to-fitness-level-volumes
#13
Urho M Kujala, Julia Pietilä, Tero Myllymäki, Sara Mutikainen, Tiina Föhr, Ilkka Korhonen, Elina Helander
PURPOSE: To investigate in a real-life setting how moderate and vigorous intensity physical activity (PA) volumes differ according to absolute intensity recommendation and relative to individual fitness level by sex, age, and body mass index (BMI). METHODS: 23 224 Finnish employees (10 201 men, 13 023 women; ages 18-65 years; BMI 18.5-40.0 kg/m) participated in heart rate recording for 2+ days. We used heart rate and its variability, respiration rate, and on/off response information from R-R interval data calibrated by participant characteristics to objectively determine daily PA volume, as follows: daily minutes of absolute moderate (3-<6 multiples of resting metabolic rate; METs) and vigorous (≥6 METs) PA; and minutes relative to individual aerobic fitness for moderate (40-<60% of oxygen uptake reserve) and vigorous (≥60%) PA...
November 21, 2016: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/27873104/analysis-of-specific-absorption-rate-and-internal-electric-field-in-human-biological-tissues-surrounding-an-air-core-coil-type-transcutaneous-energy-transmission-transformer
#14
Kenji Shiba, Nur Elina Binti Zulkifli, Yuji Ishioka
In this study, we analyzed the internal electric field E and specific absorption rate (SAR) of human biological tissues surrounding an air-core coil transcutaneous energy transmission transformer. Using an electromagnetic simulator, we created a model of human biological tissues consisting of a dry skin, wet skin, fat, muscle, and cortical bone. A primary coil was placed on the surface of the skin, and a secondary coil was located subcutaneously inside the body. The E and SAR values for the model representing a 34-year-old male subject were analyzed using electrical frequencies of 0...
November 21, 2016: Journal of Artificial Organs: the Official Journal of the Japanese Society for Artificial Organs
https://www.readbyqxmd.com/read/27871269/institutionalizing-postpartum-intrauterine-device-iud-services-in-sri-lanka-tanzania-and-nepal-study-protocol-for-a-cluster-randomized-stepped-wedge-trial
#15
David Canning, Iqbal H Shah, Erin Pearson, Elina Pradhan, Mahesh Karra, Leigh Senderowicz, Till Bärnighausen, Donna Spiegelman, Ana Langer
BACKGROUND: During the year following the birth of a child, 40% of women are estimated to have an unmet need for contraception. The copper IUD provides safe, effective, convenient, and long-term contraceptive protection that does not interfere with breastfeeding during the postpartum period. Postpartum IUD (PPIUD) insertion should be performed by a trained provider in the early postpartum period to reduce expulsion rates and complications, but these services are not widely available. The International Federation of Obstetricians and Gynecologists (FIGO) will implement an intervention that aims to institutionalize PPIUD training as a regular part of the OB/GYN training program and to integrate it as part of the standard practice at the time of delivery in intervention hospitals...
November 21, 2016: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/27865717/eosinophilic-esophagitis-as-possible-complication-of-aspirin-treatment-in-patient-with-aspirin-exacerbated-respiratory-disease
#16
Teresa Pelletier, Robert Tamayev, Melissa Iammatteo, Deborah Nautsch, Golda Hudes, Dana Lukin, Elina Jerschow
No abstract text is available yet for this article.
November 16, 2016: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/27861945/rapid-hemostasis-in-a-sheep-model-using-particles-that-propel-thrombin-and-tranexamic-acid
#17
James R Baylis, Andres Finkelstein-Kulka, Luis Macias-Valle, Jamil Manji, Michael Lee, Elina Levchenko, Christopher Okpaleke, Salahuddin Al-Salihi, Amin Javer, Christian J Kastrup
OBJECTIVES/HYPOTHESIS: Bleeding during endoscopic sinus surgery and open surgeries can easily obstruct the surgeons' field of view and increase morbidity and risk of intraoperative complications. Intraoperative bleeding could potentially be addressed by a hemostatic agent that safely disperses itself through the escaping blood. We tested the safety and efficacy of a self-propelling formulation of thrombin and tranexamic acid (SPTT) in stopping bleeding in a paranasal sinus injury and in an open surgical carotid injury sheep model...
November 10, 2016: Laryngoscope
https://www.readbyqxmd.com/read/27861795/sex-specific-mitonuclear-epistasis-and-the-evolution-of-mitochondrial-bioenergetics-ageing-and-life-history-in-seed-beetles
#18
Mirko Đorđević, Biljana Stojković, Uroš Savković, Elina Immonen, Nikola Tucić, Jelica Lazarević, Göran Arnqvist
The role of mitochondrial DNA for the evolution of life-history traits remains debated. We examined mitonuclear effects on the activity of the multisubunit complex of the electron transport chain (ETC) involved in oxidative phosphorylation (OXPHOS) across lines of the seed beetle Acanthoscelides obtectus selected for a short (E) or a long (L) life for more than >160 generations. We constructed and phenotyped mitonuclear introgression lines, which allowed us to assess the independent effects of the evolutionary history of the nuclear and the mitochondrial genome...
November 9, 2016: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/27860447/fluorescein-guided-intraoperative-endoscopy-in-patients-with-hereditary-hemorrhagic-telangiectasia-first-impressions
#19
Fabio Pagella, Alessandro Pusateri, Dario Zaccari, Daniele Bongetta, Cesare Zoia, Giuseppe Spinozzi, Carla Olivieri, Elina Matti
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disease that results in mucocutaneous telangiectasias and arteriovenous visceral malformations. Nasal telangiectasias lead to recurrent epistaxis, which affects up to 96% of patients. Different morphologic classifications and methods of visualization of nasal lesions have been described in the literature. We developed a new method of intraoperative endoscopy based on the intravenous administration of fluorescein...
November 11, 2016: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/27858961/performance-of-mrna-and-dna-based-high-risk-human-papillomavirus-assays-in-detection-of-high-grade-cervical-lesions
#20
Elina Virtanen, Ilkka Kalliala, Tadeusz Dyba, Pekka Nieminen, Eeva Auvinen
INTRODUCTION: The aim was to assess the performance of two commercial assays for the detection of high-risk human papillomavirus (hrHPV): Aptima HPV Assay (Hologic, Inc., Marlborough, MA, USA) which detects mRNA of 14 different hrHPV types, and Hybrid Capture 2 HPV DNA test (HC2; Qiagen, Gaithersburg, MD, USA), which detects the DNA of 13 different hrHPV types. Test performance was compared in the settings of a standard colposcopy clinic, among the regular patient flow. MATERIAL AND METHODS: Two separate cervical cell samples for Aptima and HC2 testing were collected from women referred to colposcopy or a cervical follow-up visit...
October 13, 2016: Acta Obstetricia et Gynecologica Scandinavica
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