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https://www.readbyqxmd.com/read/29146049/common-and-rare-tbk1-variants-in-early-onset-alzheimer-disease-in-a-european-cohort
#1
Jan Verheijen, Julie van der Zee, Ilse Gijselinck, Tobi Van den Bossche, Lubina Dillen, Bavo Heeman, Estrella Gómez-Tortosa, Albert Lladó, Raquel Sanchez-Valle, Caroline Graff, Pau Pastor, Maria A Pastor, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Jordi Clarimon, Alexandre de Mendonça, Ellen Gelpi, Magda Tsolaki, Janine Diehl-Schmid, Benedetta Nacmias, Maria Rosário Almeida, Barbara Borroni, Radoslav Matej, Agustín Ruiz, Sebastiaan Engelborghs, Rik Vandenberghe, Peter P De Deyn, Marc Cruts, Christine Van Broeckhoven, Kristel Sleegers
TANK-binding kinase 1 (TBK1) loss-of-function (LoF) mutations are known to cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), often combined with memory deficits early in the disease course. We performed targeted resequencing of TBK1 in 1253 early onset Alzheimer's disease (EOAD) patients from 8 European countries to investigate whether pathogenic TBK1 mutations are enriched among patients with clinical diagnosis of EOAD. Variant frequencies were compared against 2117 origin-matched controls...
October 25, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29141778/pathophysiology-and-risk-of-atrial-fibrillation-detected-after-ischemic-stroke-paradise-a-translational-integrated-and-transdisciplinary-approach
#2
Maryse Paquet, Joshua O Cerasuolo, Victoria Thorburn, Sebastian Fridman, Rasha Alsubaie, Renato D Lopes, Lauren E Cipriano, Paula Salamone, C W James Melling, Ali R Khan, Lucas Sedeño, Jiming Fang, Maria Drangova, Manuel Montero-Odasso, Jennifer Mandzia, Alexander V Khaw, Juan M Racosta, Justin Paturel, Lucy Samoilov, Devin Stirling, Brittany Balint, Victoria Jaremek, Marlys L Koschinsky, Michael B Boffa, Kelly Summers, Agustín Ibañez, Marko Mrkobrada, Gustavo Saposnik, Kurt Kimpinski, Shawn N Whitehead, Luciano A Sposato
BACKGROUND: It has been hypothesized that ischemic stroke can cause atrial fibrillation. By elucidating the mechanisms of neurogenically mediated paroxysmal atrial fibrillation, novel therapeutic strategies could be developed to prevent atrial fibrillation occurrence and perpetuation after stroke. This could result in fewer recurrent strokes and deaths, a reduction or delay in dementia onset, and in the lessening of the functional, structural, and metabolic consequences of atrial fibrillation on the heart...
November 13, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29139338/freeze-drying-of-silica-nanoparticles-redispersibility-toward-nanomedicine-applications
#3
Agustin S Picco, Larissa F Ferreira, Michelle S Liberato, Gabriela B Mondo, Mateus B Cardoso
AIM: To study freeze-drying of silica nanoparticles (SiO2NPs) in order to find suitable conditions to produce lyophilized powders with no aggregation after resuspension and storage. METHODS: SiO2NPs were synthesized using a Stöber-based procedure, and characterized by scanning electron microscopy, dynamic light scattering and nitrogen adsorption/desorption isotherms. SiO2NPs hydrodynamic diameters were compared prior and after freeze-drying in the presence/absence of carbohydrate protectants...
November 15, 2017: Nanomedicine
https://www.readbyqxmd.com/read/29136807/in-situ-gold-nanoparticle-electrogeneration-on-gold-films-deposited-on-paper-for-non-enzymatic-electrochemical-determination-of-glucose
#4
Estefanía Núnez-Bajo, M Carmen Blanco-López, Agustín Costa-García, M Teresa Fernández-Abedul
This work describes the development and evaluation of a new electrochemical platform based on the sustainable generation of gold-nanoparticles on paper-based gold-sputtered electrodes. The disposable porous paper electrode is combined with screen-printed electrodes for ensuring a precise electrogeneration of nanoparticles and also for the evaluation of these simple, versatile and low-cost microfluidic devices. Two types of chromatographic paper with different thicknesses have been evaluated. Paper gold working electrodes modified with gold nanoparticles were characterized by scanning electron microscopy and cyclic voltammetry using potassium ferrocyanide as a common redox probe, showing an improved electrochemical performance when compared to bare gold electrodes...
February 1, 2018: Talanta
https://www.readbyqxmd.com/read/29134427/overall-survival-of-patients-with-locally-advanced-or-metastatic-esophageal-squamous-cell-carcinoma-treated-with-nimotuzumab-in-the-real-world
#5
Yaimarelis Saumell, Lizet Sanchez, Sandra González, Ramón Ortiz, Edadny Medina, Yaima Galán, Agustin Lage
INTRODUCTION: Despite improvements in surgical techniques and treatments introduced into clinical practice, the overall survival of patients with esophageal squamous cell carcinoma remains low. Several epidermal growth factor receptor inhibitors are being evaluated in the context of clinical trials, but there is little evidence of effectiveness in real-world conditions. This study aimed at assessing the effectiveness of nimotuzumab combined with onco-specific treatment in Cuban real-life patients with locally advanced or metastatic esophageal squamous cell carcinoma...
November 13, 2017: Advances in Therapy
https://www.readbyqxmd.com/read/29127216/emerging-candidate-treatment-strategies-for-hutchinson-gilford-progeria-syndrome
#6
REVIEW
Charlotte Strandgren, Gwladys Revêchon, Agustín Sola Carvajal, Maria Eriksson
Hutchinson-Gilford progeria syndrome (HGPS, progeria) is an extremely rare premature aging disorder affecting children, with a disease incidence of ∼1 in 18 million individuals. HGPS is usually caused by a de novo point mutation in exon 11 of the LMNA gene (c.1824C>T, p.G608G), resulting in the increased usage of a cryptic splice site and production of a truncated unprocessed lamin A protein named progerin. Since the genetic cause for HGPS was published in 2003, numerous potential treatment options have rapidly emerged...
November 10, 2017: Biochemical Society Transactions
https://www.readbyqxmd.com/read/29126304/sdhc-promoter-methylation-a-novel-pathogenic-mechanism-in-parasympathetic-paragangliomas
#7
Cristóbal Bernardo-Castiñeira, Nuria Valdés, Marta I Sierra, Inés Sáenz-de-Santa-María, Gustavo F Bayón, Raúl F Perez, Agustín F Fernández, Mario F Fraga, Aurora Astudillo, Rafael Menéndez, Belén Fernández, Maribel Del Olmo, Carlos Suarez, María-Dolores Chiara
Context: Germline mutations in the succinate dehydrogenase A, B, C, and D genes (collectively, SDHx) predispose to the development of paragangliomas (PGLs) arising at the parasympathetic or sympathetic neuroendocrine systems. SDHx mutations cause absence of tumoral immunostaining for SDHB. However, negative SDHB-immunostaining has also been found in a subset of PGLs that lack SDHx mutations. Settings: Here, we report the comprehensive molecular characterization of one such a tumor of parasympathetic origin compared with healthy paraganglia and other PGLs with or without SDHx mutations...
November 3, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29123448/new-case-of-endotipsitis-urgent-need-for-clinical-practice-guidelines
#8
Alberto Garcia-Zamalloa, Jorge Taboada Gomez, Agustín Castiella Egusquiza
Transjugular intrahepatic portosystemic shunt (TIPS) is a minimally invasive procedure used for the decompression of portal pressure since the early 1990s. Bacteremia with an infection of the TIPS or endotipsitis is a serious complication with 32% mortality. To date and including the present case, only 56 cases have been reported in the literature. There are concerns regarding underdiagnosis. We report a case of a patient with endotipsitis and recurrent bacteremia treated successfully in our institution. In addition, previous reported cases were reviewed regarding microbiological data and mortality...
October 2017: Eurasian Journal of Medicine
https://www.readbyqxmd.com/read/29122148/a-pilot-randomized-controlled-trial-of-aerobic-exercise-as-an-adjunct-to-ocd-treatment
#9
Ana M Abrantes, Richard A Brown, David R Strong, Nicole McLaughlin, Sarah L Garnaat, Maria Mancebo, Deborah Riebe, Julie Desaulniers, Agustin G Yip, Steven Rasmussen, Benjamin D Greenberg
OBJECTIVE: The purpose of the current study was to conduct a randomized controlled trial testing the efficacy of aerobic exercise for decreasing OCD symptom severity, other mental health outcomes, and increasing exercise behaviors and cardiorespiratory fitness among individuals with OCD. METHOD: Fifty-six patients (64% female; mean age=38.8years) with OCD and a Yale-Brown Obsessive-Compulsive Scale (Y-BOCS) score of 16 or greater despite engaging in OCD treatment were randomized to 12-weeks of supervised plus home-based moderate-intensity aerobic exercise (AE; n=28) or to 12-weeks of health education sessions (HE; n=28)...
November 2017: General Hospital Psychiatry
https://www.readbyqxmd.com/read/29119878/the-technique-of-superselective-ophthalmic-artery-chemotherapy-for-retinoblastoma-the-garrahan-hospital-experience
#10
Flavio Requejo, Juan Marelli, Agustin Ruiz Johnson, Claudia Sampor, Guillermo Chantada
Background Superselective ophthalmic artery chemotherapy (SOAC) is a proven therapy for the treatment of retinoblastomas. We describe the technique, results and complications of SOAC performed in our hospital. Objective The aim of this article is to demonstrate that a seemingly complex technique can be carried out with a low morbidity rate. Methods A retrospective analysis of patients receiving SOAC in our department from November 2014 to April 2017 was performed. Data collected were age, gender, number of procedures, arteries approached, bilaterality of treatment, and complications...
January 1, 2017: Interventional Neuroradiology
https://www.readbyqxmd.com/read/29119806/ethical-dilemmas-associated-with-clinicians-decisions-about-treatment-in-critically-ill-infants-born-in-c%C3%A3-rdoba-argentina
#11
Agustín Alfredo Silberberg, Juan Eduardo Gallo
The objective of this article is to examine end of life decisions made by neonatologists of Córdoba, Argentina. An anonymous questionnaire was designed to investigate neonatologists' decisions on when to initiate or withdraw treatment in critical neonates. All neonatologists who take care of critically ill neonates in Córdoba participated in the survey. More than 75% of them would initiate treatment in preterm infants with uncertain prognosis based on the viability of the newborn. Because it is common to find that critically ill neonates lack sufficient diagnostic information at birth, this attitude seems to manifest a certain therapeutic activism...
March 2017: Journal of Child Health Care: for Professionals Working with Children in the Hospital and Community
https://www.readbyqxmd.com/read/29112719/a-lesion-model-of-envy-and-schadenfreude-legal-deservingness-and-moral-dimensions-as-revealed-by-neurodegeneration
#12
Hernando Santamaría-García, Sandra Baez, Pablo Reyes, José A Santamaría-García, José M Santacruz-Escudero, Diana Matallana, Analía Arévalo, Mariano Sigman, Adolfo M García, Agustín Ibáñez
The study of moral emotions (i.e. Schadenfreude and envy) is critical to understand the ecological complexity of everyday interactions between cognitive, affective, and social cognition processes. Most previous studies in this area have used correlational imaging techniques and framed Schadenfreude and envy as unified and monolithic emotional domains. Here, we profit from a relevant neurodegeneration model to disentangle the brain regions engaged in three dimensions of Schadenfreude and envy: deservingness, morality, and legality...
November 2, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29107648/corrigendum-to-european-contribution-to-the-study-of-ros-a-summary-of-the-findings-and-prospects-for-the-future-from-the-cost-action-bm1203-eu-ros-redox-biol-13-2017-94-162
#13
J Egea, I Fabregat, Y M Frapart, P Ghezzi, A Görlach, T Kietzmann, K Kubaichuk, U G Knaus, M G Lopez, G Olaso-Gonzalez, A Petry, R Schulz, J Vina, P Winyard, K Abbas, O S Ademowo, C B Afonso, I Andreadou, H Antelmann, F Antunes, M Aslan, M M Bachschmid, R M Barbosa, V Belousov, C Berndt, D Bernlohr, E Bertrán, A Bindoli, S P Bottari, P M Brito, G Carrara, A I Casas, A Chatzi, N Chondrogianni, M Conrad, M S Cooke, J G Costa, A Cuadrado, P My-Chan Dang, B De Smet, B Debelec-Butuner, I H K Dias, J D Dunn, A J Edson, M El Assar, J El-Benna, P Ferdinandy, A S Fernandes, K E Fladmark, U Förstermann, R Giniatullin, Z Giricz, A Görbe, H Griffiths, V Hampl, A Hanf, J Herget, P Hernansanz-Agustín, M Hillion, J Huang, S Ilikay, P Jansen-Dürr, V Jaquet, J A Joles, B Kalyanaraman, D Kaminskyy, M Karbaschi, M Kleanthous, L O Klotz, B Korac, K S Korkmaz, R Koziel, D Kračun, K H Krause, V Křen, T Krieg, J Laranjinha, A Lazou, H Li, A Martínez-Ruiz, R Matsui, G J McBean, S P Meredith, J Messens, V Miguel, Y Mikhed, I Milisav, L Milković, A Miranda-Vizuete, M Mojović, M Monsalve, P A Mouthuy, J Mulvey, T Münzel, V Muzykantov, I T N Nguyen, M Oelze, N G Oliveira, C M Palmeira, N Papaevgeniou, A Pavićević, B Pedre, F Peyrot, M Phylactides, G G Pircalabioru, A R Pitt, H E Poulsen, I Prieto, M P Rigobello, N Robledinos-Antón, L Rodríguez-Mañas, A P Rolo, F Rousset, T Ruskovska, N Saraiva, S Sasson, K Schröder, K Semen, T Seredenina, A Shakirzyanova, G L Smith, T Soldati, B C Sousa, C M Spickett, A Stancic, M J Stasia, H Steinbrenner, V Stepanić, S Steven, K Tokatlidis, E Tuncay, B Turan, F Ursini, J Vacek, O Vajnerova, K Valentová, F Van Breusegem, L Varisli, E A Veal, A S Yalçın, O Yelisyeyeva, N Žarković, M Zatloukalová, J Zielonka, R M Touyz, A Papapetropoulos, T Grune, S Lamas, H H H W Schmidt, F Di Lisa, A Daiber
No abstract text is available yet for this article.
October 26, 2017: Redox Biology
https://www.readbyqxmd.com/read/29106651/target-pathogen-a-structural-bioinformatic-approach-to-prioritize-drug-targets-in-pathogens
#14
Ezequiel J Sosa, Germán Burguener, Esteban Lanzarotti, Lucas Defelipe, Leandro Radusky, Agustín M Pardo, Marcelo Marti, Adrián G Turjanski, Darío Fernández Do Porto
Available genomic data for pathogens has created new opportunities for drug discovery and development to fight them, including new resistant and multiresistant strains. In particular structural data must be integrated with both, gene information and experimental results. In this sense, there is a lack of an online resource that allows genome wide-based data consolidation from diverse sources together with thorough bioinformatic analysis that allows easy filtering and scoring for fast target selection for drug discovery...
November 2, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29106287/endoscopic-tattooing-of-colorectal-neoplasms-removed-by-laparoscopy-a-proposal-for-selective-marking
#15
Sandra Alonso, Silvia Pérez, Núria Argudo, José Isaac Latorraca, Marta Pascual, Marco Antonio Álvarez, Agustín Seoane, Luis Eugenio Barranco, Luis Grande, Miguel Pera
BACKGROUND AND AIM: Preoperative endoscopic tattooing is an effective procedure to identify small intraoperative neoplasms. However, there are no defined criteria with regard to the indications for endoscopic tattooing of these lesions at the time of diagnosis. The aim of this study was to establish endoscopic criteria that allow the selection of patients who will need a tattoo during the diagnostic colonoscopy. METHODS: An ambispective study of patients undergoing laparoscopy due to a colorectal neoplasia who underwent endoscopic tattooing during the period from 2007-2013 and 2016-2017...
November 6, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/29104580/hexanoic-acid-treatment-prevents-systemic-mnsv-movement-in-cucumis-melo-plants-by-priming-callose-deposition-correlating-sa-and-opda-accumulation
#16
Emma Fernández-Crespo, Jose A Navarro, Marta Serra-Soriano, Iván Finiti, Pilar García-Agustín, Vicente Pallás, Carmen González-Bosch
Unlike fungal and bacterial diseases, no direct method is available to control viral diseases. The use of resistance-inducing compounds can be an alternative strategy for plant viruses. Here we studied the basal response of melon to Melon necrotic spot virus (MNSV) and demonstrated the efficacy of hexanoic acid (Hx) priming, which prevents the virus from systemically spreading. We analysed callose deposition and the hormonal profile and gene expression at the whole plant level. This allowed us to determine hormonal homeostasis in the melon roots, cotyledons, hypocotyls, stems and leaves involved in basal and hexanoic acid-induced resistance (Hx-IR) to MNSV...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29100530/contributions-to-the-phylogeny-of-ixodes-pholeoixodes-canisuga-i-ph-kaiseri-i-ph-hexagonus-and-a-simple-pictorial-key-for-the-identification-of-their-females
#17
Sándor Hornok, Attila D Sándor, Relja Beck, Róbert Farkas, Lorenza Beati, Jenő Kontschán, Nóra Takács, Gábor Földvári, Cornelia Silaghi, Elisabeth Meyer-Kayser, Adnan Hodžić, Snežana Tomanović, Swaid Abdullah, Richard Wall, Agustín Estrada-Peña, Georg Gerhard Duscher, Olivier Plantard
BACKGROUND: In Europe, hard ticks of the subgenus Pholeoixodes (Ixodidae: Ixodes) are usually associated with burrow-dwelling mammals and terrestrial birds. Reports of Pholeoixodes spp. from carnivores are frequently contradictory, and their identification is not based on key diagnostic characters. Therefore, the aims of the present study were to identify ticks collected from dogs, foxes and badgers in several European countries, and to reassess their systematic status with molecular analyses using two mitochondrial markers...
November 3, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/29099837/using-long-ssdna-polynucleotides-to-amplify-strs-loci-in-degraded-dna-samples
#18
Martín E Mautner, Agustín Pérez Santángelo, Rodrigo M Corti Bielsa, Andrea Sala, Santiago Ginart, Daniel Corach
Obtaining informative short tandem repeat (STR) profiles from degraded DNA samples is a challenging task usually undermined by locus or allele dropouts and peak-high imbalances observed in capillary electrophoresis (CE) electropherograms, especially for those markers with large amplicon sizes. We hereby show that the current STR assays may be greatly improved for the detection of genetic markers in degraded DNA samples by using long single stranded DNA polynucleotides (ssDNA polynucleotides) as surrogates for PCR primers...
2017: PloS One
https://www.readbyqxmd.com/read/29099369/hodgkin-lymphoma-diagnosed-during-dental-treatment-the-importance-of-neck-palpation
#19
Marisol Miranda Galvis, Leonardo Amaral Dos Reis, Alan Roger Santos-Silva, Pablo Agustin Vargas, Marcelo Brum Corrêa, Marcio Ajudarte Lopes
Hodgkin lymphoma (HL) is a malignant lymphoproliferative disease that originates from alterations in germinal center B cells. HL generally affects cervical and supraclavicular nodes, and the most common clinical presentation is adenopathy. It can be symptomatic and detected by the patient or asymptomatic and identified during a physical examination. This article reports the case of a 17-year-old girl who was diagnosed with HL during dental treatment, highlighting the importance of a complete physical examination in dental practice...
November 2017: General Dentistry
https://www.readbyqxmd.com/read/29093736/what-is-the-value-of-the-learning-curve-in-endoscopic-balloon-dilatation-of-the-major-papilla
#20
Eduardo Tavio-Hernandez, Enrique Vazquez-Sequeiros, Enrique Rodriguez-Santiago, Juan Angel Gonzalez-Martin, Jose Ramón Foruny-Olcina, Vicente Benita-Leon, Victor Defarges-Pons, Daniel Boixeda-Miquel, Agustin Albillos-Martínez
Introduction: Endoscopic papillary large balloon dilatation (EPLBD) is an alternative for the treatment of common bile duct (CBD) stones. Existing evidence of factors associated with its outcomes is contradictory. Objective: To identify predictors (including the experience of an endoscopist) of success and adverse events in EPLBD. Methods: We reviewed the first 200 EPLBD with endoscopic sphincterotomy (EST) performed at our center. Demographic, clinical, and anatomic variables were studied, as well as the performance characteristics, correlating them with individual and group experience...
2017: Gastroenterology Research and Practice
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