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https://www.readbyqxmd.com/read/29681619/a-decision-tree-for-the-genetic-diagnosis-of-deficiency-of-adenosine-deaminase-2-dada2-a-french-reference-centres-experience
#1
Mélanie Rama, Claire Duflos, Isabelle Melki, Didier Bessis, Axelle Bonhomme, Hélène Martin, Diane Doummar, Stéphanie Valence, Diana Rodriguez, Emilie Carme, David Genevieve, Ketil Heimdal, Antonella Insalaco, Nathalie Franck, Viviane Queyrel-Moranne, Nathalie Tieulie, Jonathan London, Florence Uettwiller, Sophie Georgin-Lavialle, Alexandre Belot, Isabelle Koné-Paut, Véronique Hentgen, Guilaine Boursier, Isabelle Touitou, Guillaume Sarrabay
Deficiency of adenosine deaminase 2 (DADA2) is a recently described autoinflammatory disorder. Genetic analysis is required to confirm the diagnosis. We aimed to describe the identifying symptoms and genotypes of patients referred to our reference centres and to improve the indications for genetic testing. DNA from 66 patients with clinically suspected DADA2 were sequenced by Sanger or next-generation sequencing. Detailed epidemiological, clinical and biological features were collected by use of a questionnaire and were compared between patients with and without genetic confirmation of DADA2...
April 23, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29680299/corrigendum-to-interatrial-block-frailty-and-prognosis-in-elderly-patients-with-myocardial-infarction-j-electrocardiol-51-2018-1-7
#2
Eva Bernal, Antoni Bayés-Genís, Albert Ariza-Solé, Francesc Formiga, Maria T Vidán, Luis Alberto Escobar-Robledo, Jaime Aboal, Lídia Alcoberro, Carme Guerrero, Iván Ariza-Segovia, Ana Hernández de Benito, Pau Vilardell, José Carlos Sánchez-Salado, Victoria Lorente, Antoni Bayés de Luna, Manuel Martinez-Sellés
No abstract text is available yet for this article.
April 18, 2018: Journal of Electrocardiology
https://www.readbyqxmd.com/read/29679948/clinical-course-of-venous-thromboembolism-in-patients-with-pancreatic-cancer-insights-from-the-riete-registry
#3
Corinne Frere, Javier Trujillo-Santos, Carme Font, Ángel Sampériz, Roberto Quintavalla, José González-Martínez, Fernando Javier Vázquez, Jorge Lima, Dominique Farge, Manuel Monreal
No abstract text is available yet for this article.
April 21, 2018: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/29679220/tackling-health-inequalities-using-urban-heart-in-the-sustainable-development-goals-era
#4
EDITORIAL
Amit Prasad, Carme Borrell, Roshanak Mehdipanah, Somnath Chatterji
No abstract text is available yet for this article.
April 20, 2018: Journal of Urban Health: Bulletin of the New York Academy of Medicine
https://www.readbyqxmd.com/read/29664973/introducing-automation-to-the-molecular-diagnosis-of-trypanosoma-cruzi-infection-a-comparative-study-of-sample-treatments-dna-extraction-methods-and-real-time-pcr-assays
#5
Alba Abras, Cristina Ballart, Teresa Llovet, Carme Roig, Cristina Gutiérrez, Silvia Tebar, Pere Berenguer, María-Jesús Pinazo, Elizabeth Posada, Joaquim Gascón, Alejandro G Schijman, Montserrat Gállego, Carmen Muñoz
BACKGROUND: Polymerase chain reaction (PCR) has become a useful tool for the diagnosis of Trypanosoma cruzi infection. The development of automated DNA extraction methodologies and PCR systems is an important step toward the standardization of protocols in routine diagnosis. To date, there are only two commercially available Real-Time PCR assays for the routine laboratory detection of T. cruzi DNA in clinical samples: TCRUZIDNA.CE (Diagnostic Bioprobes Srl) and RealCycler CHAG (Progenie Molecular)...
2018: PloS One
https://www.readbyqxmd.com/read/29659262/fluorescent-bodipy-anionic-boron-cluster-conjugates-as-potential-agents-for-cell-tracking
#6
Mahdi Chaari, Nerea Gaztelumendi, Justo Cabrera-González, Paula Peixoto-Moledo, Clara Viñas, Elba Xochitiotzi-Flores, Norberto Farfan, Abdelhamid Ben Salah, Carme Nogues, Rosario Nuñez
A series of novel fluorescent BODIPY-anionic boron cluster conjugates bearing [B12H12]2- (5, 6), [3,3'-Co(1,2-C2B9H11)2]- (7, 8), and [3,3'-Fe(1,2-C2B9H11)2]- (9) anions have been readily synthesized from meso-(4-hydroxyphenyl)-4,4-difluoro-4-bora-3a,4a-diaza-s-indacene (BODIPY 4), and their structure and photoluminescence properties have been assessed. Linking anionic boron clusters to the BODIPY (4) does not alter significantly the luminescent properties of the final fluorophores, showing all of them similar emission fluorescent quantum yields (3-6%)...
April 16, 2018: Bioconjugate Chemistry
https://www.readbyqxmd.com/read/29656108/epoxygenase-inactivation-exacerbates-diet-and-aging-associated-metabolic-dysfunction-resulting-from-impaired-adipogenesis
#7
Antoni Olona, Ximena Terra, Jeong-Hun Ko, Carme Grau-Bové, Montserrat Pinent, Anna Ardevol, Ana Garcia Diaz, Aida Moreno-Moral, Matthew Edin, David Bishop-Bailey, Darryl C Zeldin, Timothy J Aitman, Enrico Petretto, Mayte Blay, Jacques Behmoaras
OBJECTIVE: When molecular drivers of healthy adipogenesis are perturbed, this can cause hepatic steatosis. The role of arachidonic acid (AA) and its downstream enzymatic cascades, such as cyclooxygenase, in adipogenesis is well established. The exact contribution of the P450 epoxygenase pathway, however, remains to be established. Enzymes belonging to this pathway are mainly encoded by the CYP2J locus which shows extensive allelic expansion in mice. Here we aimed to establish the role of endogenous epoxygenase during adipogenesis under homeostatic and metabolic stress conditions...
March 9, 2018: Molecular Metabolism
https://www.readbyqxmd.com/read/29648516/the-phosphodiesterase-4-inhibitor-roflumilast-reverts-proteolysis-in-skeletal-muscle-cells-of-patients-with-copd-cachexia
#8
Esther Barreiro, Ester Puig-Vilanova, Anna Salazar-Degracia, Sergi Pascual-Guardia, Carme Casadevall, Joaquim Gea
Peripheral muscle weakness and mass loss are characteristic features in severe COPD. We hypothesized that the phosphodiesterase-4 inhibitor roflumilast-induced cAMP may ameliorate proteolysis and metabolism in skeletal muscles of COPD patients with severe muscle wasting. In myogenic precursor cells (isolated from muscle biopsies and cultured up to obtain differentiated myotubes) from 10 severe COPD patients and 10 healthy controls, which were treated with 1 microM roflumilast N-oxide (RNO) for three time-cohorts (1h, 6h, and 24h), genes of antioxidant defense and oxidative stress marker, myogenesis and muscle metabolism, proteolysis (tyrosine release assay) and ubiquitin-proteasome system markers, autophagy, and myosin isoforms were analyzed using RT-PCR and immunoblotting...
April 12, 2018: Journal of Applied Physiology
https://www.readbyqxmd.com/read/29642949/estimated-frailty-prevalence-among-israeli-elderly-results-from-a-cross-sectional-national-survey
#9
Assaf Buch, Lital Keinan-Boker, Yitshal Berner, Eli Carmeli, Rebecca Goldsmith, Naftali Stern
BACKGROUND: Increasing longevity presents new social and medical challenges in developed countries. The prevalence of frailty is of interest because of its association with health prognosis and outcomes, but so far there is no single best diagnostic tool for this entity. Therefore, estimated prevalence of frailty in countries varies considerably and ranges between 5% and 58%. In Israel, the nation-wide prevalence of frailty in the elderly population is presently unknown. The objective of our study was to assess the rate of the frailty in elderly Israelis...
April 12, 2018: Israel Journal of Health Policy Research
https://www.readbyqxmd.com/read/29627951/risk-factors-for-recurrent-clostridium-difficile-infection-in-a-tertiary-hospital-in-israel
#10
Wasef Na'amnih, Amos Adler, Tamar Miller-Roll, Dani Cohen, Yehuda Carmeli
To estimate the rate and identified risk factors for recurrent Clostridium difficile infection (rCDI) in Israel. We conducted a retro-prospective case-control study of all adult (age ≥ 18 years) patients with an initial episode of CDI (iCDI) at Tel Aviv Sourasky Medical Center from January 1, 2012 to December 31, 2014. We collected demographic, clinical, and epidemiological information for patients who were classified as recurrent (cases) and non-recurrent (control) groups. In total, 648 patients with iCDI were identified in the study...
April 7, 2018: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/29627861/patients-experience-of-living-with-cancer-associated-thrombosis-in-spain-pelicanos
#11
Carme Font, Annmarie Nelson, Tanya Garcia-Fernandez, Hayley Prout, Peter Gee, Simon Noble
INTRODUCTION: The previously reported Patients' Experience of LIving with CANcer-associated thrombosis (PELICAN) identified several areas of unmet clinical and support need for cancer patients diagnosed with venous thromboembolism (VTE) in the UK. It is not known whether such experiences are restricted to one particular country's healthcare system and culture. We therefore undertook an evaluation of patients' experience of cancer-associated thrombosis (CAT) within a Spanish setting. METHODS: Twenty consecutive Spanish patients with CAT were interviewed about their experiences of living with CAT as per the previous PELICAN study...
April 7, 2018: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/29618394/comparison-of-predictors-and-mortality-between-bloodstream-infections-caused-by-esbl-producing-escherichia-coli-and-esbl-producing-klebsiella-pneumoniae
#12
Oded Scheuerman, Vered Schechner, Yehuda Carmeli, Belen Gutiérrez-Gutiérrez, Esther Calbo, Benito Almirante, Pier-Luigy Viale, Antonio Oliver, Patricia Ruiz-Garbajosa, Oriol Gasch, Monica Gozalo, Johann Pitout, Murat Akova, Carmen Peña, Jose Molina, Alicia Hernández-Torres, Mario Venditti, Nuria Prim, Julia Origüen, German Bou, Evelina Tacconelli, Maria Tumbarello, Axel Hamprecht, Ilias Karaiskos, Cristina de la Calle, Federico Pérez, Mitchell J Schwaber, Joaquin Bermejo, Warren Lowman, Po-Ren Hsueh, Carolina Navarro-San Francisco, Robert A Bonomo, David L Paterson, Alvaro Pascual, Jesus Rodríguez-Baño
OBJECTIVETo compare the epidemiology, clinical characteristics, and mortality of patients with bloodstream infections (BSI) caused by extended-spectrum β-lactamase (ESBL)-producing Escherichia coli (ESBL-EC) versus ESBL-producing Klebsiella pneumoniae (ESBL-KP) and to examine the differences in clinical characteristics and outcome between BSIs caused by isolates with CTX-M versus other ESBL genotypesMETHODSAs part of the INCREMENT project, 33 tertiary hospitals in 12 countries retrospectively collected data on adult patients diagnosed with ESBL-EC BSI or ESBL-KP BSI between 2004 and 2013...
April 5, 2018: Infection Control and Hospital Epidemiology
https://www.readbyqxmd.com/read/29610018/study-of-the-standard-direct-costs-of-various-techniques-of-advanced-endoscopy-comparison-with-surgical-alternatives
#13
Carme Loras, Vicenç Mayor, Fernando Fernández-Bañares, Maria Esteve
INTRODUCTION: The complexity of endoscopy has carried out an increase in cost that has a direct effect on the healthcare systems. However, few studies have analyzed the cost of advanced endoscopic procedures (AEP). OBJECTIVES: To carry out a calculation of the standard direct costs of AEP, and to make a financial comparison with their surgical alternatives. METHODS: Calculation of the standard direct cost in carrying out each procedure. An endoscopist detailed the time, personnel, materials, consumables, recovery room time, stents, pathology and medication used...
March 12, 2018: Digestive and Liver Disease
https://www.readbyqxmd.com/read/29601512/sensor-based-optimized-control-of-the-full-load-instability-in-large-hydraulic-turbines
#14
Alexandre Presas, David Valentin, Mònica Egusquiza, Carme Valero, Eduard Egusquiza
Hydropower plants are of paramount importance for the integration of intermittent renewable energy sources in the power grid. In order to match the energy generated and consumed, Large hydraulic turbines have to work under off-design conditions, which may lead to dangerous unstable operating points involving the hydraulic, mechanical and electrical system. Under these conditions, the stability of the grid and the safety of the power plant itself can be compromised. For many Francis Turbines one of these critical points, that usually limits the maximum output power, is the full load instability...
March 30, 2018: Sensors
https://www.readbyqxmd.com/read/29599428/temperature-and-monsoon-tango-in-a-tropical-stalagmite-last-glacial-interglacial-climate-dynamics
#15
Carme Huguet, Joyanto Routh, Susanne Fietz, Mahjoor Ahmad Lone, M S Kalpana, Prosenjit Ghosh, Augusto Mangini, Vikash Kumar, Ravi Rangarajan
High-resolution paleoclimate data on stable isotopes in a stalagmite were coupled to glycerol dialkyl glycerol tetraethers (GDGTs). The Indian Summer Monsoon (ISM) transitioned from limited rainfall during the Last Glacial Maximum (LGM) to intense precipitation during early Holocene (22 to 6 ka). This was associated with changes in stalagmite growth, abundance of branched (br) and isoprenoid (iso) GDGTs, as well as δ18 O, δ13 C, Sr/Ca and GDGT-derived signals providing both temperature and moisture information...
March 29, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29593213/evidence-for-functional-pre-coupled-complexes-of-receptor-heteromers-and-adenylyl-cyclase
#16
Gemma Navarro, Arnau Cordomí, Verónica Casadó-Anguera, Estefanía Moreno, Ning-Sheng Cai, Antoni Cortés, Enric I Canela, Carmen W Dessauer, Vicent Casadó, Leonardo Pardo, Carme Lluís, Sergi Ferré
G protein-coupled receptors (GPCRs), G proteins and adenylyl cyclase (AC) comprise one of the most studied transmembrane cell signaling pathways. However, it is unknown whether the ligand-dependent interactions between these signaling molecules are based on random collisions or the rearrangement of pre-coupled elements in a macromolecular complex. Furthermore, it remains controversial whether a GPCR homodimer coupled to a single heterotrimeric G protein constitutes a common functional unit. Using a peptide-based approach, we here report evidence for the existence of functional pre-coupled complexes of heteromers of adenosine A2A receptor and dopamine D2 receptor homodimers coupled to their cognate Gs and Gi proteins and to subtype 5 AC...
March 28, 2018: Nature Communications
https://www.readbyqxmd.com/read/29590214/correction-patterns-of-sedentary-behavior-in-overweight-and-moderately-obese-users-of-the-catalan-primary-health-care-system
#17
Elena Martínez-Ramos, Angela-Maria Beltran, Carme Martín-Borràs, Lourdes Lasaosa-Medina, Jordi Real, José-Manuel Trujillo, Mercè Solà-Gonfaus, Elisa Puigdomenech, Eva Castillo-Ramos, Anna Puig-Ribera, Maria Giné-Garriga, Noemi Serra-Paya, Beatriz Rodriguez-Roca, Ana Gascón-Catalán, Carlos Martín-Cantera
[This corrects the article DOI: 10.1371/journal.pone.0190750.].
2018: PloS One
https://www.readbyqxmd.com/read/29588512/multivariable-clinical-genetic-risk-model-for-predicting-venous-thromboembolic-events-in-patients-with-cancer
#18
Andrés J Muñoz Martín, Israel Ortega, Carme Font, Vanesa Pachón, Victoria Castellón, Virginia Martínez-Marín, Mercedes Salgado, Eva Martínez, Julia Calzas, Ana Rupérez, Juan C Souto, Miguel Martín, Eduardo Salas, Jose M Soria
BACKGROUND: Venous thromboembolism (VTE) is a leading cause of death among patients with cancer. Outpatients with cancer should be periodically assessed for VTE risk, for which the Khorana score is commonly recommended. However, it has been questioned whether this tool is sufficiently accurate at identifying patients who should receive thromboprophylaxis. The present work proposes a new index, TiC-Onco risk score to be calculated at the time of diagnosis of cancer, that examines patients' clinical and genetic risk factors for thrombosis...
March 28, 2018: British Journal of Cancer
https://www.readbyqxmd.com/read/29581041/titania-and-silica-nanoparticles-coupled-to-chlorin-e6-for-anti-cancer-photodynamic-therapy
#19
Zahraa Youssef, Valérie Jouan-Hureaux, Ludovic Colombeau, Philippe Arnoux, Albert Moussaron, Francis Baros, Joumana Toufaily, Tayssir Hamieh, Thibault Roques-Carmes, Céline Frochot
In this study, light-sensitive photosensitizers (Chlorin e6, Ce6) were linked to TiO2 and SiO2 nanoparticles (NPs) in order to develop new kinds of NP-based drug delivery systems for cancer treatment by PDT. the TiO2 or SiO2 NPs were modified either by the growth of a polysiloxane layer constituted of two silane reagents ((3-aminopropyl)triethoxysilane (APTES) and tetraethyl orthosilicate (TEOS)) around the core (PEGylated NPs: TiO2 @4Si-Ce6-PEG, SiO2 @4Si-Ce6-PEG) or simply modified by APTES alone (APTES-modified NPs: TiO2 -APTES-Ce6, SiO2 -APTES-Ce6)...
March 23, 2018: Photodiagnosis and Photodynamic Therapy
https://www.readbyqxmd.com/read/29579644/physiotherapeutic-interventions-in-multiple-sclerosis-across-europe-regions-and-other-factors-that-matter
#20
Patrícia Martinková, Jenny Freeman, Adéla Drabinová, Elena Erosheva, Davide Cattaneo, Johanna Jonsdottir, Ilse Baert, Tori Smedal, Anders Romberg, Peter Feys, Jose Alves-Guerreiro, Mario Habek, Thomas Henze, Carme Santoyo Medina, Antonie Beiske, Paul Van Asch, Daphne Bakalidou, Yeliz Salcı, Erieta Nikolikj Dimitrova, Markéta Pavlíková, Kamila Řasová
BACKGROUND: A wide variety of interventions exists in physical therapy (PT), but knowledge about their use across different geographical regions is limited. This study investigated the use of PT interventions in people with multiple sclerosis (MS) across Europe. It aimed to determine whether regions differ in applying interventions, and explore whether factors other than regions play a role in their use. METHODS: In an online cross-sectional survey, 212 respondents from 115 European workplaces providing PT services to people with MS representing 26 countries (four European regions) participated...
March 14, 2018: Multiple Sclerosis and related Disorders
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