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https://www.readbyqxmd.com/read/28107169/genetic-diagnosis-of-%C3%AE-1-antitrypsin-deficiency-using-dna-from-buccal-swab-and-serum-samples
#1
Irene Belmonte, Miriam Barrecheguren, Cristina Esquinas, Esther Rodríguez, Marc Miravitlles, Francisco Rodríguez-Frías
BACKGROUND: α1-Antitrypsin deficiency (AATD) is associated with a high risk of developing lung and liver disease. Despite being one of the most common hereditary disorders worldwide, AATD remains under-diagnosed and prolonged delays in diagnosis are usual. The aim of this study was to validate the use of buccal swab samples and serum circulating DNA for the complete laboratory study of AATD. METHODS: Sixteen buccal swab samples from previously characterized AATD patients were analyzed using an allele-specific genotyping assay and sequencing method...
January 20, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28096449/specific-glucoside-transporters-influence-septal-structure-and-function-in-the-filamentous-heterocyst-forming-cyanobacterium-anabaena-sp-strain-pcc-7120
#2
Mercedes Nieves-Morión, Sigal Lechno-Yossef, Rocío López-Igual, José E Frías, Vicente Mariscal, Dennis J Nürnberg, Conrad W Mullineaux, C Peter Wolk, Enrique Flores
: When deprived of combined nitrogen, some filamentous cyanobacteria contain two cell types: vegetative cells that fix CO2 through oxygenic photosynthesis and heterocysts that are specialized in N2 fixation. In the diazotrophic filament, the vegetative cells provide the heterocysts with reduced carbon (mainly in the form of sucrose) and heterocysts provide the vegetative cells with combined nitrogen. Septal junctions traverse peptidoglycan through structures known as nanopores, and appear to mediate intercellular molecular transfer that can be traced with fluorescent markers, including the sucrose analog esculin (a coumarin glucoside) that is incorporated into the cells...
January 17, 2017: Journal of Bacteriology
https://www.readbyqxmd.com/read/28077520/hepatitis-e-virus-infection-in-anti-hev-igg-carryinfing-patients-after-successful-hcv-treatment-reactivation-or-reinfection
#3
Antonio Rivero-Juarez, Mario Frias, Pedro Lopez-Lopez, María de Los Angeles Risalde, Teresa Brieva, Isabel Machuca, Angela Camacho, Antonio Martinez-Peinado, Jose Carlos Gomez-Villamandos, Antonio Rivero
Although Hepatitis E (HEV) is regarded asa self-limiting infection and anti-HEV antibodies seem toprotect against reinfection, its pathogenesis is not well established. We describe two cases of acute symptomatic HEV infection after Hepatitis C therapy in patients carrying anti-HEV IgG antibodies raising two major questions: reactivation or reinfection?
January 11, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28074043/correction-dasatinib-a-src-inhibitor-sensitizes-liver-metastatic-colorectal-carcinoma-to-oxaliplatin-in-tumors-with-high-levels-of-phospho-src
#4
Marco Perez, Antonio Lucena-Cacace, Luis Miguel Marín-Gómez, Javier Padillo-Ruiz, Maria Jose Robles-Frias, Carmen Saez, Rocio Garcia-Carbonero, Amancio Carnero
No abstract text is available yet for this article.
November 22, 2016: Oncotarget
https://www.readbyqxmd.com/read/28069920/folding-but-not-surface-area-expansion-is-associated-with-cellular-morphological-maturation-in-the-fetal-cerebral-cortex
#5
Xiaojie Wang, Colin Studholme, Peta L Grigsby, Antonio E Frias, Verginia C Cuzon Carlson, Christopher D Kroenke
: Altered macroscopic anatomical characteristics of the cerebral cortex have been identified in individuals affected by various neurodevelopmental disorders. However, the cellular developmental mechanisms that give rise to these abnormalities are not understood. Recently, advances in image reconstruction of diffusion magnetic resonance imaging (diffusion MRI) have made possible high resolution in utero measurements of water diffusion anisotropy in the fetal brain. Here, diffusion anisotropy within the developing fetal cerebral cortex is longitudinally characterized in the rhesus macaque, focusing on gestation days (G) 85 through G135 of the 165 day term...
January 9, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28067990/familial-hepatitis-e-outbreak-linked-to-wild-boar-meat-consumption
#6
A Rivero-Juarez, M Frias, A Martinez-Peinado, M A Risalde, D Rodriguez-Cano, A Camacho, I García-Bocanegra, F Cuenca-Lopez, J C Gomez-Villamandos, A Rivero
An HIV-infected patient was diagnosed with acute hepatitis E infection in our hospital. An epidemiological inquiry was performed to collect demographic, food and animal exposure variables in order to identify the potential route of transmission. The patient reported that his family traditionally hunted wild boar for food. All family members were analysed for hepatitis E virus infection. Additionally, route of transmission by wild boar meat consumption and prevalence of HEV infection among wild boar from the same hunting area were investigated...
January 9, 2017: Zoonoses and Public Health
https://www.readbyqxmd.com/read/28066799/the-study-protocol-for-a-non-randomized-controlled-clinical-trial-using-a-genotype-guided-strategy-in-a-dataset-of-patients-who-undergone-percutaneous-coronary-intervention-with-stent
#7
Cristina Lucía Dávila-Fajardo, Jesús Sánchez-Ramos, Xando Diaz- Villamarín, Luis Javier Martínez-González, Pablo Toledo Frías, Susana Martínez Huertas, Francisco Burillo Gómez, Juan Caballero Borrego, Alicia Bautista Pavés, Mª Carmen Marín Guzmán, José Antonio Ramirez Hernández, Concepción Correa Vilches, Jose Cabeza Barrera
This article contains data related to the research article entitled "Results of genotype-guided antiplatelet therapy in patients undergone percutaneous coronary intervention with stent" (J. Sánchez-Ramos, C.L. Dávila-Fajardo, P. Toledo Frías, X. Díaz Villamarín, L.J. Martínez-González, S. Martínez Huertas, F. Burillo Gómez, J. Caballero Borrego, A. Bautista Pavés, M.C. Marín Guzmán, J.A. Ramirez Hernández, C. Correa Vilches, J. Cabeza Barrera, 2016) (1). This data article reports, for the first time, about the non-randomized clinical trial protocol that check if CYP2C19/ABCB1 genotype-guided strategy in which the choice of antiplatelet therapy is based on the genetic test, reduces the rates of cardiovascular events and bleeding compared to a non-tailored strategy in patients undergone percutaneous coronary intervention (PCI) with stent...
February 2017: Data in Brief
https://www.readbyqxmd.com/read/28062871/-chronic-diarrhea-in-the-diabetic-a-review-of-the-literature
#8
Juan Sebastián Frías Ordoñez, William Otero Regino
The association of diarrhea with diabetes mellitus has been known for more than 70 years. In diabetic patients its prevalence is around 20%.Its clinical manifestations are diverse, and represents a diagnostic and therapeutic challenge.There are certain diagnoses of higher prevalence in diabetic patients than in the general population.The different related etiologies can be adequately diagnosed through the clinical history and complementary diagnostic tests.The medications used by the diabetic patient to manage their disease often cause chronic diarrhea, so the pharmacological background should be studied at the time of the study of diarrhea...
October 2016: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
https://www.readbyqxmd.com/read/28051797/%C3%A2-sofosbuvir-and-daclatasvir-in-mono-and-hiv-coinfected-patients-with-recurrent-hepatitis-c-after-liver-transplant
#9
Lluís Castells, Jordi Llaneras, Isabel Campos-Varela, Itxarone Bilbao, Manel Crespo, Oscar Len, Francisco Rodríguez-Frías, Ramon Charco, Teresa Salcedo, Juan Ignacio Esteban, Rafael Esteban-Mur
:  Background and aims. Pegylated interferon (Peg-INF) and ribavirin (RBV) based therapy is suboptimal and poorly tolerated. We evaluated the safety, tolerability and efficacy of a 24-week course of sofosbuvir plus daclatasvir without ribavirin for the treatment of hepatitis C virus (HCV) recurrence after liver transplantation (LT) in both HCV-monoinfected and human immunodeficiency virus (HIV)-HCV coinfected patients. MATERIAL AND METHODS: We retrospectively evaluated 22 consecutive adult LT recipients (16 monoinfected and 6 coinfected with HIV) who received a 24-week course of sofosbuvir plus daclatasvir treatment under an international compassionate access program...
January 2017: Annals of Hepatology
https://www.readbyqxmd.com/read/28040474/deep-sequencing-in-the-management-of-hepatitis-virus-infections
#10
REVIEW
Josep Quer, Francisco Rodríguez-Frias, Josep Gregori, David Tabernero, Maria Eugenia Soria, Damir García-Cehic, Maria Homs, Albert Bosch, Rosa María Pintó, Juan Ignacio Esteban, Esteban Domingo, Celia Perales
The hepatitis viruses represent a major public health problem worldwide. Procedures for characterization of the genomic composition of their populations, accurate diagnosis, identification of multiple infections, and information on inhibitor-escape mutants for treatment decisions are needed. Deep sequencing methodologies are extremely useful for these viruses since they replicate as complex and dynamic quasispecies swarms whose complexity and mutant composition are biologically relevant traits. Population complexity is a major challenge for disease prevention and control, but also an opportunity to distinguish among related but phenotypically distinct variants that might anticipate disease progression and treatment outcome...
December 28, 2016: Virus Research
https://www.readbyqxmd.com/read/28025823/hla-alleles-are-genetic-markers-for-susceptibility-and-resistance-towards-leprosy-in-a-mexican-mestizo-population
#11
Maribel Aguilar-Medina, Monica Escamilla-Tilch, Luis Octavio Frías-Castro, Geovanni Romero-Quintana, Iris Estrada-García, Sergio Estrada-Parra, Julio Granados, Eliakym Arambula Meraz, Guzman Sánchez-Schmitz, Shabaana Abdul Khader, Javier Rangel-Moreno, Rosalío Ramos-Payán
Despite the use of multidrug therapy, leprosy remains endemic in some countries. The association of several human leucocyte antigen (HLA) alleles and gene polymorphisms with leprosy has been demonstrated in many populations, but the major immune contributors associated to the spectrum of leprosy have not been defined yet. In this study, genotyping of HLA-A, -B, -DR, and -DQ alleles was performed in leprosy patients (n = 113) and control subjects (n = 117) from the region with the highest incidence for the disease in México...
December 27, 2016: Annals of Human Genetics
https://www.readbyqxmd.com/read/28004935/asymmetric-synthesis-of-rauhut-currier-type-products-by-a-regioselective-mukaiyama-reaction-under-bifunctional-catalysis
#12
María Frias, Rubén Mas-Ballesté, Saira Arias, Cuauhtemoc Alvarado, José Alemán
The reactivity and the regioselective functionalization of silyl-diene enol ethers under a bifunctional organocatalyst provokes a dramatic change in the regioselectivity, from the 1,5- to the 1,3-functionalization. This variation makes possible the 1,3-addition of silyl-dienol ethers to nitroalkenes, giving access to the synthesis of tri- and tetrasubstituted double bonds in Rauhut-Currier type products. The process takes place under smooth conditions, nonanionic conditions, and with a high enantiomeric excess...
January 18, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/27997743/metal-nhc-complexes-with-naphthalimide-ligands-as-dna-interacting-antiproliferative-agents
#13
Wojciech Streciwilk, Alessio Terenzi, Rainer Misgeld, Corazon Frias, Peter G Jones, Aram Prokop, Bernhard Keppler, Ingo Ott
Naphthalimide-based N-heterocyclic carbene (NHC) complexes of the type [(COD)(NHC)RhCl) (4a-c), [(p-cymene)(NHC)RuCl2) (5a-c) and [(NHC)CuBr] (6a-c) were synthesised and investigated as antiproliferative agents that target DNA. The cytotoxic effects were largely driven by the naphthalimide structure, which represents a DNA intercalating moiety. Regarding the metal centre, the highest activities were observed with the rhodium complexes and the cytotoxic activity was strongly decreased for the ruthenium derivatives...
December 20, 2016: ChemMedChem
https://www.readbyqxmd.com/read/27987078/heterogeneous-diagnoses-underlying-radial-ray-anomalies
#14
Rosalba Sevilla-Montoya, Mónica Aguinaga, Alejandro Martínez, Guadalupe Razo, Bertha Molina, Sara Frías, Patricia Grether
OBJECTIVE: To review perinatal Radial Ray Anomaly (RRA) cases born at the National Institute of Perinatology, Mexico, and to reveal the heterogeneous diagnoses of these patients. METHODS: All patients with RRA over a 18 mo period were included; 4/15 were detected prenatally and 11/15 postnatally. Karyotype was performed for all patients with bilateral RRA; and chromosomal breakage analysis, when the karyotype was normal. RESULTS: Fifteen RRA patients were identified: one with trisomy 18, three with an isolated defect, six with monogenic disease, four with a genetic association and one with diabetic embryopathy...
December 17, 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/27986447/-massive-pulmonary-atelectasis-is-it-always-a-foreign-body
#15
Estela Pérez Ruiz, María Del Carmen López Castillo, Pilar Caro Aguilera, Javier Pérez Frías
No abstract text is available yet for this article.
December 13, 2016: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/27979228/identification-functional-gastrointestinal-stability-and-molecular-docking-studies-of-lentil-peptides-with-dual-antioxidant-and-angiotensin-i-converting-enzyme-inhibitory-activities
#16
Patricia García-Mora, Mercedes Martín-Martínez, María Angeles Bonache, Rosario González-Múniz, Elena Peñas, Juana Frias, Cristina Martinez-Villaluenga
The objective was to identify peptides with dual antioxidant and angiotensin I converting enzyme (ACE) inhibitory activities released from lentil proteins by Savinase®. The influence of gastrointestinal digestion on peptide bioactivity was also assayed. Fragments from vicilin, convicilin and legumin were the most abundant peptides identified. Peptides LLSGTQNQPSFLSGF, NSLTLPILRYL, TLEPNSVFLPVLLH showed the highest antioxidant (0.013-1.432μmol Trolox eq./μmol peptide) and ACE inhibitory activities (IC50=44-120μM)...
April 15, 2017: Food Chemistry
https://www.readbyqxmd.com/read/27973562/the-pnpla3-genetic-variant-rs738409-influences-the-progression-to-cirrhosis-in-hiv-hepatitis-c-virus-coinfected-patients
#17
Rocío Núñez-Torres, Juan Macías, María Mancebo, Mario Frías, Giovanni Dolci, Francisco Téllez, Dolores Merino, Nicolás Merchante, Jesús Gómez-Mateos, Giovanni Guaraldi, Antonio Rivero-Juárez, Juan A Pineda, Luis M Real
Contradictory data about the impact of the rs738409 steatosis-related polymorphism within PNPLA3 gene on liver fibrosis progression in HIV/hepatitis C virus (HIV/HCV)-coinfected patients have been reported. Our objective was to test whether this, and other polymorphisms previously related to fatty liver disease in HIV infection linked to SAMM50 or LPPR4 genes, influence liver fibrosis progression in HIV/HCV-coinfected individuals. Three hundred and thirty two HIV/HCV-coinfected patients who consecutively attended four Spanish university hospitals from November 2011 to July 2013 were included...
2016: PloS One
https://www.readbyqxmd.com/read/27964752/extreme-genomic-erosion-after-recurrent-demographic-bottlenecks-in-the-highly-endangered-iberian-lynx
#18
Federico Abascal, André Corvelo, Fernando Cruz, José L Villanueva-Cañas, Anna Vlasova, Marina Marcet-Houben, Begoña Martínez-Cruz, Jade Yu Cheng, Pablo Prieto, Víctor Quesada, Javier Quilez, Gang Li, Francisca García, Miriam Rubio-Camarillo, Leonor Frias, Paolo Ribeca, Salvador Capella-Gutiérrez, José M Rodríguez, Francisco Câmara, Ernesto Lowy, Luca Cozzuto, Ionas Erb, Michael L Tress, Jose L Rodriguez-Ales, Jorge Ruiz-Orera, Ferran Reverter, Mireia Casas-Marce, Laura Soriano, Javier R Arango, Sophia Derdak, Beatriz Galán, Julie Blanc, Marta Gut, Belen Lorente-Galdos, Marta Andrés-Nieto, Carlos López-Otín, Alfonso Valencia, Ivo Gut, José L García, Roderic Guigó, William J Murphy, Aurora Ruiz-Herrera, Tomas Marques-Bonet, Guglielmo Roma, Cedric Notredame, Thomas Mailund, M Mar Albà, Toni Gabaldón, Tyler Alioto, José A Godoy
BACKGROUND: Genomic studies of endangered species provide insights into their evolution and demographic history, reveal patterns of genomic erosion that might limit their viability, and offer tools for their effective conservation. The Iberian lynx (Lynx pardinus) is the most endangered felid and a unique example of a species on the brink of extinction. RESULTS: We generate the first annotated draft of the Iberian lynx genome and carry out genome-based analyses of lynx demography, evolution, and population genetics...
December 14, 2016: Genome Biology
https://www.readbyqxmd.com/read/27935686/neuroprotection-of-brain-cells-by-lipoic-acid-treatment-after-cellular-stress
#19
Sara Paradells-Navarro, María Soledad Benlloch-Navarro, María Inmaculada Almansa Frias, Ma Angeles Garcia-Esparza, Vania Broccoli, María Miranda, José Miguel Soria
We have previously observed that in vivo lipoic acid (LA) treatment induced a protective effect onto primary cortical neurons after brain injury. In an effort to better understand LA action mechanism in the brain, in the present study, we stressed brain cells in vitro and ex vivo and then analyzed by inmmunocytochemistry and biochemical assays, the changes induced by LA on cell survival and on the concentration of oxidative stress markers, such as glutathione (GSH), oxidized glutathione (GSSG), and malondialdehyde (MDA)...
December 9, 2016: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/27927921/assessment-of-a-novel-automatic-real-time-pcr-assay-on-the-cobas4800-analyzer-as-a-screening-platform-for-hcv-genotyping-in-clinical-practice-comparison-with-massive-sequencing
#20
Leonardo Nieto-Aponte, Josep Quer, Alicia Ruiz-Ripa, David Tabernero, Carolina Gonzalez, Josep Gregori, Marta Vila, Miriam Asensio, Damir Garcia-Cehic, Gerardo Ruiz, Qian Chen, Laura Ordeig, Meritxell Llorens, Montserrat Saez, Juan I Esteban, Rafael Esteban, Maria Buti, Tomas Pumarola, Francisco Rodriguez-Frias
BACKGROUND: To optimize the effectiveness of interferon-free, direct-acting antiviral therapies for HCV, unequivocal identification of subtypes 1a/1b and genotypes 2 to 6 is required. METHODS: The performance of a new real-time HCV genotyping assay for use on the Cobas 4800 system (C4800) was compared with that of high-resolution HCV subtyping (HRCS). In total, 502 samples were included, 184 from chronic HCV patients (routine laboratory activity, April 2016), 5 stored samples with double HCV genotype infection to test the limitations of the method, and 313 from a screening protocol implemented in our hospital (May to August, 2016) based on the new method, to further determine its genotyping accuracy...
December 7, 2016: Journal of Clinical Microbiology
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