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https://www.readbyqxmd.com/read/29447355/a-recurrent-de-novo-missense-mutation-in-ubtf-causes-developmental-neuroregression
#1
Camilo Toro, Roderick T Hori, May Christine V Malicdan, Cynthia J Tifft, Amy Goldstein, William A Gahl, David R Adams, Harper B Fauni, Lynne A Wolfe, Jianfeng Xiao, Mohammad M Khan, Jun Tian, Kevin A Hope, Lawrence T Reiter, Michel G Tremblay, Tom Moss, Alexis L Franks, Chris Balak, Mark S LeDoux
No abstract text is available yet for this article.
February 13, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29445177/validating-a-breast-cancer-score-in-spanish-women-the-mcc-spain-study
#2
Trinidad Dierssen-Sotos, Inés Gómez-Acebo, Camilo Palazuelos, Pablo Fernández-Navarro, Jone M Altzibar, Carmen González-Donquiles, Eva Ardanaz, Mariona Bustamante, Jessica Alonso-Molero, Carmen Vidal, Juan Bayo-Calero, Adonina Tardón, Dolores Salas, Rafael Marcos-Gragera, Víctor Moreno, Paz Rodriguez-Cundin, Gemma Castaño Vinyals, María Ederra, Laura Vilorio-Marqués, Pilar Amiano, Beatriz Pérez-Gómez, Nuria Aragonés, Manolis Kogevinas, Marina Pollán, Javier Llorca
A breast-risk score, published in 2016, was developed in white-American women using 92 genetic variants (GRS92), modifiable and non-modifiable risk factors. With the aim of validating the score in the Spanish population, 1,732 breast cancer cases and 1,910 controls were studied. The GRS92, modifiable and non-modifiable risk factor scores were estimated via logistic regression. SNPs without available genotyping were simulated as in the aforementioned 2016 study. The full model score was obtained by combining GRS92, modifiable and non-modifiable risk factor scores...
February 14, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29441327/inorganic-polyphosphate-is-essential-for-salmonella-typhimurium-virulence-and-survival-in-dictyostelium-discoideum
#3
Macarena A Varas, Sebastián Riquelme-Barrios, Camila Valenzuela, Andrés E Marcoleta, Camilo Berríos-Pastén, Carlos A Santiviago, Francisco P Chávez
Inorganic polyphosphate (polyP) deficiency in enteric bacterial pathogens reduces their ability to invade and establish systemic infections in different hosts. For instance, inactivation of the polyP kinase gene ( ppk ) encoding the enzyme responsible for polyP biosynthesis reduces invasiveness and intracellular survival of Salmonella enterica serovar Typhimurium ( S . Typhimurium) in epithelial cells and macrophages in vitro . In addition, the virulence in vivo of a S . Typhimurium Δ ppk mutant is significantly reduced in a murine infection model...
2018: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/29441045/network-analyses-in-plant-pathogens
#4
REVIEW
David Botero, Camilo Alvarado, Adriana Bernal, Giovanna Danies, Silvia Restrepo
Even in the age of big data in Biology, studying the connections between the biological processes and the molecular mechanisms behind them is a challenging task. Systems biology arose as a transversal discipline between biology, chemistry, computer science, mathematics, and physics to facilitate the elucidation of such connections. A scenario, where the application of systems biology constitutes a very powerful tool, is the study of interactions between hosts and pathogens using network approaches. Interactions between pathogenic bacteria and their hosts, both in agricultural and human health contexts are of great interest to researchers worldwide...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29436967/photocatalytic-degradation-of-h-2-s-in-the-gas-phase-using-a-continuous-flow-reactor-coated-with-tio-2-based-acrylic-paint
#5
Eduardo Borges Lied, Camilo Freddy Mendoza Morejon, Rodrigo Leonardo de Oliveira Basso, Ana Paula Trevisan, Paulo Rodrigo Stival Bittencourt, Fábio Luiz Fronza
For the photocatalytic degradation of the hydrogen sulphide (H2S) in the gas-phase it was developed a rectangular reactor, coated with acrylic paint supported on fiber cement material. The surface formed by the paint coverage was characterized structural and morphologically by scanning electron microscopy with energy dispersive X-ray (SEM-EDX) and X-ray diffraction (XRD) analysis. The flow rate and the inlet concentration of H2S were evaluated as operational performance parameters of the reactor. Removal efficiencies of up to 94% were obtained at a flow rate of 2 L min-1(residence time of 115 s) and inlet concentration of 31 ppm of H2S...
February 13, 2018: Environmental Technology
https://www.readbyqxmd.com/read/29430491/total-knee-arthroplasty-in-patients-with-retention-of-prior-hardware-material-what-is-the-outcome
#6
Jorge Manrique, Mohammad R Rasouli, Camilo Restrepo, Mitchell G Maltenfort, Jonathan Beri, Jeffrey Oliver, Raj Patel, Javad Parvizi
Background: There is an information gap in literature regarding postoperative outcome of total knee arthroplasty (TKA) in patients with hardware in-situ from the previous knee surgery. The present study aims to evaluate impact of retained hardware on short-term outcome of TKA patients. Methods: Perioperative radiographs of patients who had undergone TKA between 2007 and 2012 were reviewed and patients in whom partial or complete retention of hardware was evident after TKA were included...
January 2018: Archives of Bone and Joint Surgery
https://www.readbyqxmd.com/read/29428252/delirium-during-the-first-evaluation-of-children-aged-five-to-14%C3%A2-years-admitted-to-a-paediatric-critical-care-unit
#7
Eliana María Cano Londoño, Isabel Cristina Mejía Gil, Katerine Uribe Hernández, Carmenza Ricardo Ramírez, Matilde Ligia Álvarez Gómez, Ricardo Antonio Consuegra Peña, Camilo Andrés Agudelo Vélez, Susana Zuluaga Penagos, Mussatye Elorza Parra, José G Franco Vásquez
OBJECTIVES: To describe the prevalence and characteristics of delirium during the initial evaluation of critically ill patients aged 5-14 years. METHOD/DESIGN: This is a cross-sectional descriptive study in a critical care unit. For six months, all patients were evaluated within the first 24-72 hours or when sedation permitted the use of the paediatric confusion assessment method for the intensive care unit (PCAM-ICU) and the Delirium Rating Scale-Revised-98 items #7 and #8 to determine motor type...
February 7, 2018: Intensive & Critical Care Nursing: the Official Journal of the British Association of Critical Care Nurses
https://www.readbyqxmd.com/read/29427212/recontacting-patients-with-updated-genetic-testing-recommendations-for-medullary-thyroid-carcinoma-and-pheochromocytoma-or-paraganglioma
#8
Minerva A Romero Arenas, Thereasa A Rich, Samuel M Hyde, Naifa L Busaidy, Gilbert J Cote, Mimi I Hu, Robert F Gagel, Paul W Gidley, Camilo Jimenez, Michael E Kupferman, Susan K Peterson, Steven I Sherman, Anita Ying, Roland L Bassett, Steven G Waguespack, Nancy D Perrier, Elizabeth G Grubbs
BACKGROUND: No guidelines exist regarding physicians' duty to inform former patients about novel genetic tests that may be medically beneficial. Research on the feasibility and efficacy of disseminating information and patient opinions on this topic is limited. METHODS: Adult patients treated at our institution from 1950 to 2010 for medullary thyroid cancer, pheochromocytoma, or paraganglioma were included if their history suggested being at-risk for a hereditary syndrome but genetic risk assessment would be incomplete by current standards...
February 9, 2018: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/29425270/system-specific-patterns-of-thalamocortical-connectivity-in-early-brain-development-as-revealed-by-structural-and-functional-mri
#9
Silvina L Ferradal, Borjan Gagoski, Camilo Jaimes, Francesca Yi, Clarisa Carruthers, Catherine Vu, Jonathan S Litt, Ryan Larsen, Brad Sutton, P Ellen Grant, Lilla Zöllei
The normal development of thalamocortical connections plays a critical role in shaping brain connectivity in the prenatal and postnatal periods. Recent studies using advanced magnetic resonance imaging (MRI) techniques in neonates and infants have shown that abnormal thalamocortical connectivity is associated with adverse neurodevelopmental outcomes. However, all these studies have focused on a single neuroimaging modality, overlooking the dynamic relationship between structure and function at this early stage...
February 7, 2018: Cerebral Cortex
https://www.readbyqxmd.com/read/29421973/multimodal-characterization-of-the-late-effects-of-tbi-letbi-a-methodological-overview-of-the-letbi-project
#10
Brian L Edlow, C Dirk Keene, Daniel Perl, Diego Iacono, Rebecca Folkerth, William Stewart, Christine L MacDonald, Jean Augustinack, Ramon Diaz-Arrastia, Camilo Estrada, Elissa Flannery, Wayne Gordon, Tom Grabowski, Kelly Hansen, Jeanne Hoffman, Christopher Kroenke, Eric Larson, Patricia Lee, Azma Mareyam, Jennifer A McNab, Jeanne McPhee, Allison L Moreau, Anne Renz, KatieRose Richmire, Allison Stevens, Cheuk Y Tang, Lee S Tirrell, Emily Trittschuh, Andre van der Kouwe, Ani Varjabedian, Lawrence L Wald, Ona Wu, Anastasia Yendiki, Liza Young, Lilla Zollei, Bruce Fischl, Paul K Crane, Kristen Dams-O'Connor
Epidemiological studies suggest that a single moderate-to-severe traumatic brain injury (TBI) is associated with an increased risk of neurodegenerative disease, including Alzheimer's and Parkinson's disease (AD and PD). Histopathological studies describe complex neurodegenerative pathologies in individuals exposed to single moderate-to-severe TBI or repetitive mild TBI, including chronic traumatic encephalopathy (CTE). However, the clinicopathological links between TBI and post-traumatic neurodegenerative diseases such as AD, PD, and CTE remain poorly understood...
February 8, 2018: Journal of Neurotrauma
https://www.readbyqxmd.com/read/29421732/electrochemical-degradation-of-industrial-textile-dye-disperse-yellow-3-role-of-electrocatalytic-material-and-experimental-conditions-on-the-catalytic-production-of-oxidants-and-oxidation-pathway
#11
Ricardo Salazar, M Soledad Ureta-Zañartu, Camilo González-Vargas, Christiane do Nascimento Brito, Carlos A Martinez-Huitle
This study aimed to verify the efficiency of the electrochemical oxidation process for removal the industrial textile Disperse Yellow 3 (DY3) dye in aqueous solutions using different electrocatalytic materials: boron-doped diamond (BDD), Ti/Ru0.3Ti0.7O2 and Ti/Pt anodes. The results were obtained by applying different current densities (40 and 60 mA cm-2) at 40 °C using different supporting electrolytes (Na2SO4 50 mM and NaCl 50 mM) under values of pH about 2.3, 7.0 and 10.0. Results obtained shown that the process was faster at the beginning of the process for all electrocatalytic materials, using Na2SO4 as electrolyte, being more efficient for BDD anode reaching more than 90% of TOC and color decay independently of the current density and pH and supporting electrolyte; while up to 50% of color and TOC was eliminated, using the other anodic materials in sulfate...
December 28, 2017: Chemosphere
https://www.readbyqxmd.com/read/29420794/itraconazole-in-combination-with-neutrophil-depletion-reduces-the-expression-of-genes-related-to-pulmonary-fibrosis-in-an-experimental-model-of-paracoccidioidomycosis
#12
Juan David Puerta-Arias, Paula Andrea Pino-Tamayo, Julián Camilo Arango, Lina María Salazar-Peláez, Angel González
Itraconazole (ITC) is the drug of choice for treating paracoccidioidomycosis (PCM); nonetheless, patients with the chronic form of this mycosis develop fibrosis, a residual pulmonary abnormality, even after treatment. Recently, we observed that the depletion of neutrophils with a specific monoclonal antibody (mAb-anti-Ly6G) during the chronic stages of PCM was associated with a decrease in the fungal burden, the inflammatory response and a reduction of fibrosis. Herein, we aimed to evaluate the effect of ITC in combination with the mAb-anti-Ly6G in an experimental model of pulmonary PCM...
October 9, 2017: Medical Mycology: Official Publication of the International Society for Human and Animal Mycology
https://www.readbyqxmd.com/read/29420563/towards-a-novel-model-for-studying-the-nutritional-stage-dynamics-of-the-colombian-population-by-age-and-socioeconomic-status
#13
Jose D Meisel, Olga L Sarmiento, Camilo Olaya, Pablo D Lemoine, Juan A Valdivia, Roberto Zarama
Low-and middle-income countries (LMICs) are experiencing a nutritional transition in which the burden of obesity tends to shift towards the lower-socioeconomic status (SES) group. We propose a system dynamics (SD) model for assessing the nutritional stage dynamics of the Colombian urban population by age and SES projected to 2030. This SD model captures the ageing population according to body mass index (BMI) categories and SES. In this model, the transference rates (TRs) between BMI categories by age and SES are estimated using a heuristic based on data obtained from national surveys...
2018: PloS One
https://www.readbyqxmd.com/read/29419653/long-term-use-of-naldemedine-in-the-treatment-of-opioid-induced-constipation-in-patients-with-chronic-non-cancer-pain-a-randomized-double-blind-placebo-controlled-phase-3-study
#14
Lynn R Webster, Srinivas Nalamachu, Bart Morlion, Jyotsna Reddy, Yuko Baba, Tadaaki Yamada, Juan Camilo Arjona Ferreira
The long-term safety of naldemedine, a peripherally acting µ-opioid receptor antagonist, was evaluated in patients with opioid-induced constipation and chronic non-cancer pain in a 52-week, randomized, double-blind, phase 3 study. Eligible adults who could be on a routine laxative regimen were randomized 1:1 to receive once-daily oral naldemedine 0.2 mg (n = 623) or placebo (n = 623). The primary endpoint was summary measures of treatment-emergent adverse events (AEs). Additional endpoints included opioid withdrawal on the Clinical Opiate Withdrawal Scale and the Subjective Opiate Withdrawal Scale, pain intensity on Numeric Rating Scale, frequency of bowel movements, and constipation-related symptoms and quality of life on the Patient Assessment of Constipation Symptoms and Patient Assessment of Constipation Quality of Life scales, respectively...
February 6, 2018: Pain
https://www.readbyqxmd.com/read/29409077/ankle-and-foot-injuries-in-the-young-athlete
#15
Nancy A Chauvin, Camilo Jaimes, Asef Khwaja
Injuries to the ankle and foot are common in the young athlete, especially with increasing participation and high levels of competitiveness in youth sports programs. Knowledge of the normal development of the foot and ankle is crucial to understand age-specific injury patterns because acute or chronic/repetitive stress to the developing skeleton results in injuries that differ from those seen in adults. Congenital abnormalities may also predispose children to increased risk of injury and pain. Radiologists must be aware of these distinctions to diagnose and classify injuries correctly for optimum treatment...
February 2018: Seminars in Musculoskeletal Radiology
https://www.readbyqxmd.com/read/29399286/toll-like-receptor-4-polymorphisms-and-bacterial-infections-in-patients-with-cirrhosis-and-ascites
#16
Edilmar Alvarado-Tapias, Carlos Guarner-Argente, Elida Oblitas, Elisabet Sánchez, Silvia Vidal, Eva Román, Mar Concepción, Maria Poca, Cristina Gely, Oana Pavel, Juan Camilo Nieto, Cándido Juárez, Carlos Guarner, Germán Soriano
AIM: To assess the relationship between the presence of toll-like receptor 4 (TLR4) polymorphisms and bacterial infections in cirrhotic patients with ascites. METHODS: We prospectively included consecutive patients with cirrhosis and ascites hospitalized during a 6-year period. Patients with human immunodeficiency virus (HIV) infection or any other immunodeficiency, patients with advanced hepatocellular carcinoma (beyond Milan's criteria) or any other condition determining poor short-term prognosis, and patients with a permanent urinary catheter were excluded...
January 27, 2018: World Journal of Hepatology
https://www.readbyqxmd.com/read/29396215/validation-of-equations-and-proposed-reference-values-to-estimate-fat-mass-in-chilean-university-students
#17
Rossana Gómez Campos, Jaime Pacheco Carrillo, Alejandro Almonacid Fierro, Camilo Urra Albornoz, Marco Cossío-Bolaños
OBJECTIVES: (i) To propose regression equations based on anthropometric measures to estimate fat mass (FM) using dual energy X-ray absorptiometry (DXA) as reference method, and (ii)to establish population reference standards for equation-derived FM. MATERIAL AND METHODS: A cross-sectional study on 6,713 university students (3,354 males and 3,359 females) from Chile aged 17.0 to 27.0years. Anthropometric measures (weight, height, waist circumference) were taken in all participants...
January 23, 2018: Endocrinología, Diabetes y Nutrición
https://www.readbyqxmd.com/read/29395211/height-alone-rather-than-body-surface-area-suffices-for-risk-estimation-in-ascending-aortic-aneurysm
#18
Mohammad A Zafar, Yupeng Li, John A Rizzo, Paris Charilaou, Ayman Saeyeldin, Camilo A Velasquez, Ahmed M Mansour, Syed Usman Bin Mahmood, Wei-Guo Ma, Adam J Brownstein, Maryann Tranquilli, Julia Dumfarth, Panagiotis Theodoropoulos, Kabir Thombre, Maryam Tanweer, Young Erben, Sven Peterss, Bulat A Ziganshin, John A Elefteriades
BACKGROUND: In international guidelines, risk estimation for thoracic ascending aortic aneurysm (TAAA) is based on aortic diameter. We previously introduced the aortic size index (ASI), defined as aortic size/body surface area (BSA), as a predictor of aortic dissection, rupture, and death. However, weight might not contribute substantially to aortic size and growth. We seek to evaluate the height-based aortic height index (AHI) versus ASI for risk estimation and revisit our natural history calculations...
December 6, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29393883/relationship-between-the-polymeric-ionization-degree-and-powder-and-surface-properties-in-materials-derived-from-poly-maleic-anhydride-alt-octadecene
#19
Constain H Salamanca, Cristhian J Yarce, Camilo A Zapata, Jonnathan A Giraldo
Polymeric materials derived from poly(maleic anhydride-alt-octadecene)-here referred as PAM-18-have shown interesting properties that make them potential pharmaceutical excipients. In this work, eight polymers derived from PAM-18 were obtained using NaOH and KOH at 1:1; 1:0.75, 1:0.5, and 1:0.25 molar ratios. The resulting products were labeled as PAM-18Na and PAM-18K, respectively. Each polymer was purified by ultrafiltration/lyophilization, and the ionization degree was determined by potentiometric studies, which was related to the zeta potential...
February 2, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29376085/anterolateral-ligament-reconstruction-a-possible-option-in-the-therapeutic-arsenal-for-persistent-rotatory-instability-after-acl-reconstruction
#20
Camilo Partezani Helito, Adnan Saithna, Marcelo B Bonadio, Matt Daggett, Edoardo Monaco, Marco K Demange, Bertrand Sonnery-Cottet
No abstract text is available yet for this article.
January 2018: Orthopaedic Journal of Sports Medicine
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