106 results on '"Palau, A."'
Search Results
2. Minimum entropy collaborative groupings: A tool for an automatic heterogeneous learning group formation.
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Toni Vallès-Català and Ramon Palau
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Medicine ,Science - Abstract
For some decades now, theories on learning methodologies have advocated collaborative learning due to its good results in terms of effectiveness and learning types and its promotion of educational and social values. This means that teachers need to be able to apply different criteria when forming heterogeneous groups of students and to use automated techniques to assist them. In this study, we have created an approach based on complex network theory to design an algorithm called Minimum Entropy Collaborative Groupings (MECG) in order to form these heterogeneous groups more effectively. The algorithm was tested firstly under a synthetic framework and secondly in a real situation. In the first case, we generated 30 synthetic classrooms of different sizes and compared our approach with a genetic algorithm and a random grouping. In the latter case, the approach was tested on a group of 200 students on two subjects of a master's degree in teacher training. For each subject there were 4 large groups of 50 students each, in which collaborative groups of 4 students were created. Two of these large groups were used as random groups, another group used the CHAEA test and the fourth group used the LML test. The results showed that the groups created with MECG were more effective, had less uncertainty and were more interrelated and mature. It was observed that the randomized groups did not obtain significantly better LML results and that this cannot be related to any emotional or motivational effect because the students performed the test as a placebo measure. In terms of learning styles, the results were significantly better with LML than with CHAEA, whereas no significant difference was observed in the randomized groups.
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- 2023
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3. Retirements of professional tennis players in second- and third-tier tournaments on the ATP and WTA tours.
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Palau, Maria, Baiget, Ernest, Cortés, Jordi, Martínez, Joan, Crespo, Miguel, and Casals, Martí
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TENNIS players , *RETIREMENT of athletes , *WTA Tour (Tennis) , *SPORTS injuries - Abstract
The demands of professional tennis, including physical and psychological aspects, contribute to the frequency of retirements at elite levels of the sport. The aim of this study was to analyze epidemiological patterns and risk factors associated with retirements in previous ATP and WTA Tour tournaments. A retrospective cohort study was conducted. This study focused on previous ATP and WTA Tour tournaments. The ATP database encompassed 584,806 matches, while the WTA database included 267,380 matches. To assess retirements, potential risk factors such as playing surface, tournament category, match round, and player age were analyzed. Incidence rates were calculated for the period between 1978–2019 for men and 1994–2018 for women. The overall incidence rate was 1.56 (95%CI: 1.54, 1.59) and 1.36 (95%CI: 1.33, 1.39) retirements per 1000 games played in male and female competitions, respectively. Retirements increased over the years. Higher incidence rates were observed on hard (1.59 [95%CI: 1.56, 1.63] and 1.39 [95%CI: 1.34, 1.44]) and clay (1.60 [95%CI: 1.57, 1.63] and 1.36 [95%CI: 1.32, 1.41]) compared to grass courts (0.79 [95%CI: 0.65, 0.94] and 1.06 [95%CI: 0.88, 1.27]). Risk factors differed by gender, with tournament category significant in males (IRR: 1.23 [95%CI: 1.19, 1.28] in ITF vs ATP) and match round in females (IRR: 0.92 [95%CI: 0.88, 0.98] in preliminary vs final). This study provides valuable insights for coaches, players, support teams, and epidemiologists regarding retirements and associated risk factors in previous ATP and WTA Tour tournaments, contributing to injury prevention strategies. [ABSTRACT FROM AUTHOR]
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- 2024
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4. Clinical validation of a next-generation sequencing-based multi-cancer early detection 'liquid biopsy' blood test in over 1,000 dogs using an independent testing set: The CANcer Detection in Dogs (CANDiD) study
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Andi Flory, Kristina M. Kruglyak, John A. Tynan, Lisa M. McLennan, Jill M. Rafalko, Patrick Christian Fiaux, Gilberto E. Hernandez, Francesco Marass, Prachi Nakashe, Carlos A. Ruiz-Perez, Donna M. Fath, Thuy Jennings, Rita Motalli-Pepio, Kate Wotrang, Angela L. McCleary-Wheeler, Susan Lana, Brenda Phillips, Brian K. Flesner, Nicole F. Leibman, Tracy LaDue, Chelsea D. Tripp, Brenda L. Coomber, J. Paul Woods, Mairin Miller, Sean W. Aiken, Amber Wolf-Ringwall, Antonella Borgatti, Kathleen Kraska, Christopher B. Thomson, Alane Kosanovich Cahalane, Rebecca L. Murray, William C. Kisseberth, Maria A. Camps-Palau, Franck Floch, Claire Beaudu-Lange, Aurélia Klajer-Peres, Olivier Keravel, Luc-André Fribourg-Blanc, Pascale Chicha Mazetier, Angelo Marco, Molly B. McLeod, Erin Portillo, Terry S. Clark, Scott Judd, C. Kirk Feinberg, Marie Benitez, Candace Runyan, Lindsey Hackett, Scott Lafey, Danielle Richardson, Sarah Vineyard, Mary Tefend Campbell, Nilesh Dharajiya, Taylor J. Jensen, Dirk van den Boom, Luis A. Diaz, Daniel S. Grosu, Arthur Polk, Kalle Marsal, Susan Cho Hicks, Katherine M. Lytle, Lauren Holtvoigt, Jason Chibuk, Ilya Chorny, and Dana W. Y. Tsui
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Medicine ,Science - Abstract
Cancer is the leading cause of death in dogs, yet there are no established screening paradigms for early detection. Liquid biopsy methods that interrogate cancer-derived genomic alterations in cell-free DNA in blood are being adopted for multi-cancer early detection in human medicine and are now available for veterinary use. The CANcer Detection in Dogs (CANDiD) study is an international, multi-center clinical study designed to validate the performance of a novel multi-cancer early detection “liquid biopsy” test developed for noninvasive detection and characterization of cancer in dogs using next-generation sequencing (NGS) of blood-derived DNA; study results are reported here. In total, 1,358 cancer-diagnosed and presumably cancer-free dogs were enrolled in the study, representing the range of breeds, weights, ages, and cancer types seen in routine clinical practice; 1,100 subjects met inclusion criteria for analysis and were used in the validation of the test. Overall, the liquid biopsy test demonstrated a 54.7% (95% CI: 49.3–60.0%) sensitivity and a 98.5% (95% CI: 97.0–99.3%) specificity. For three of the most aggressive canine cancers (lymphoma, hemangiosarcoma, osteosarcoma), the detection rate was 85.4% (95% CI: 78.4–90.9%); and for eight of the most common canine cancers (lymphoma, hemangiosarcoma, osteosarcoma, soft tissue sarcoma, mast cell tumor, mammary gland carcinoma, anal sac adenocarcinoma, malignant melanoma), the detection rate was 61.9% (95% CI: 55.3–68.1%). The test detected cancer signal in patients representing 30 distinct cancer types and provided a Cancer Signal Origin prediction for a subset of patients with hematological malignancies. Furthermore, the test accurately detected cancer signal in four presumably cancer-free subjects before the onset of clinical signs, further supporting the utility of liquid biopsy as an early detection test. Taken together, these findings demonstrate that NGS-based liquid biopsy can offer a novel option for noninvasive multi-cancer detection in dogs.
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- 2022
5. Evaluation of Newcastle Disease antibody titers in backyard poultry in Germany with a vaccination interval of twelve weeks.
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Björn Oberländer, Klaus Failing, Celina M Jüngst, Nicole Neuhaus, Michael Lierz, and Franca Möller Palau-Ribes
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Medicine ,Science - Abstract
Newcastle Disease (ND) is a viral disease spread worldwide with a high impact on economy and animal welfare. Vaccination against Newcastle Disease is one of the main control measures in countries such as Germany with endemic occurrence of Newcastle Disease virus in the free ranging bird population. The German Standing Veterinary Committee on Immunization (StIKo Vet) recommends to revaccinate chickens at intervals of six weeks against Newcastle Disease with attenuated live vaccines via drinking water or spray in line with the SPCs (Summary of Product Characteristics) of current vaccines. However, it is still common practice to revaccinate only every twelve weeks because the SPCs of former vaccines proposed a revaccination after checking the antibody titer which based on practical knowledge was typically sufficient for twelve weeks. The aim of this study was to evaluate if a vaccination interval of twelve weeks against Newcastle Disease under field conditions results in sufficient seroconversion to protect flocks. Antibody titers of 810 blood samples from 27 backyard flocks of chickens were analyzed by ELISA- and HI-tests between 69 and 111 days after vaccination of the flocks with attenuated live vaccines of the ND strain Clone 30. Furthermore, data on the flocks such as breed, sex and age were collected through a questionnaire. In this study a sufficient antibody titer was found in 26 of these flocks. Therefore, a vaccination interval of every twelve weeks with the live vaccines tested is suitable for a vaccination protocol against Newcastle Disease. The lack of seroconversion of one flock also emphasizes the need for regular vaccination monitoring by serological testing and re-evaluation of the vaccination process if needed.
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- 2020
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6. Minimum entropy collaborative groupings: A tool for an automatic heterogeneous learning group formation
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Vallès-Català, Toni, primary and Palau, Ramon, additional
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- 2023
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7. Efficacy of liposomal amphotericin B and anidulafungin using an antifungal lock technique (ALT) for catheter-related Candida albicans and Candida glabrata infections in an experimental model.
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Jana Basas, Marta Palau, Xavier Gomis, Benito Almirante, and Joan Gavaldà
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Medicine ,Science - Abstract
ObjectiveThe aims of this study were as follows. First, we sought to compare the in vitro susceptibility of liposomal amphotericin B (LAmB) and anidulafungin on Candida albicans and Candida glabrata biofilms growing on silicone discs. Second, we sought to compare the activity of LAmB versus anidulafungin for the treatment of experimental catheter-related C. albicans and C. glabrata infections with the antifungal lock technique in a rabbit model.MethodsTwo C. albicans and two C. glabrata clinical strains were used. The minimum biofilm eradication concentration for 90% eradication (MBEC90) values were determined after 48h of treatment with LAmB and anidulafungin. Confocal microscopy was used to visualize the morphology and viability of yeasts growing in biofilms. Central venous catheters were inserted into New Zealand rabbits, which were inoculated of each strain of C. albicans and C. glabrata. Then, catheters were treated for 48h with saline or with antifungal lock technique using either LAmB (5mg/mL) or anidulafungin (3.33mg/mL).ResultsIn vitro: anidulafungin showed greater activity than LAmB against C. albicans and C. glabrata strains. For C. albicans: MBEC90 of anidulafungin versus LAmB: CA176, 0.03 vs. 128 mg/L; CA180, 0.5 vs. 64 mg/L. For C. glabrata: MBEC90 of anidulafungin versus LAmB: CG171, 0.5 vs. 64 mg/L; CG334, 2 vs. 32 mg/L. In vivo: for C. albicans species, LAmB and anidulafungin achieved significant reductions relative to growth control of log10 cfu recovered from the catheter tips (CA176: 3.6±0.3 log10 CFU, p≤0.0001; CA180: 3.8±0.1 log10 CFU, p≤0.01). For C. glabrata, anidulafungin lock therapy achieved significant reductions relative to the other treatments (CG171: 4.8 log10 CFU, p≤0.0001; CG334: 5.1 log10 CFU, p≤0.0001).ConclusionsFor the C. albicans strains, both LAmB and anidulafungin may be promising antifungal lock technique for long-term catheter-related infections; however, anidulafungin showed significantly higher activity than LAmB against the C. glabrata strains.
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- 2019
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8. Gut microbiota dynamics and functionality in Reticulitermes grassei after a 7-day dietary shift and ciprofloxacin treatment.
- Author
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Mercedes Berlanga, Montserrat Palau, and Ricardo Guerrero
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Medicine ,Science - Abstract
Gut microbial structure in animals depends on the host, dietary habits and local environment. A random event, dietary change or antibiotic treatment may alter the gut environment with possible repercussions for the bacterial community composition and functionality and ultimately host fitness. The present study was focused on the composition, structure and functionality of gut microbiota in Reticulitermes grassei and the data obtained was compared with sequence surveys of three other Reticulitermes species. Each Reticulitermes species had a significantly different bacterial gut microbiota (pairwise significance tests using the Kolmogorov-Smirnov test), but a similar pattern of distribution (P-test in weighted Unifrac). The core gut microbiota from the analyzed Reticulitermes species contained 16 bacterial operational taxonomic units. Enzymes (KO) were detected from 14 pathways related to carbohydrate metabolism. R. grassei and R. hesperus, based on relative abundance of KO, had the most similar carbohydrate pathway patterns. In addition, we described the gut microbiota and functionality pathways in R. grassei after a 7-day dietary shift and antibiotic (ciprofloxacin) treatment. Both factors, but above all the antibiotic, altered the relative abundance of certain microbial groups, although the changes were not statistically significant (P-test in weighted Unifrac). The cellulose diet enhanced the carbohydrate pathways related to propanoate, butanoate, ascorbate, and glyoxylate metabolism. The antibiotic treatment affected galactose metabolism, the citrate cycle and inositol phosphate metabolism. Those functional changes may be related to changes in the abundance of several bacterial groups. Our findings provide insights into the stability of the gut microbiota in R. grassei and a resilience response to dietary shift or antibiotic treatment disturbance after 7 days.
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- 2018
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9. Correction: ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism.
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Estrella Rubio-Solsona, Salvador Martí, Juan J Vílchez, Francesc Palau, and Janet Hoenicka
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Medicine ,Science - Abstract
[This corrects the article DOI: 10.1371/journal.pone.0197254.].
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- 2018
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10. Metabotypes of response to bariatric surgery independent of the magnitude of weight loss.
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Magali Palau-Rodriguez, Sara Tulipani, Anna Marco-Ramell, Antonio Miñarro, Olga Jáuregui, Alex Sanchez-Pla, Bruno Ramos-Molina, Francisco J Tinahones, and Cristina Andres-Lacueva
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Medicine ,Science - Abstract
OBJECTIVE:Bariatric surgery is considered the most efficient treatment for morbid obesity and its related diseases. However, its role as a metabolic modifier is not well understood. We aimed to determine biosignatures of response to bariatric surgery and elucidate short-term metabolic adaptations. METHODS:We used a LC- and FIA-ESI-MS/MS approach to quantify acylcarnitines, (lyso)phosphatidylcholines, sphingomyelins, amino acids, biogenic amines and hexoses in serum samples of subjects with morbid obesity (n = 39) before and 1, 3 and 6 months after bariatric surgery. K-means cluster analysis allowed to distinguish metabotypes of response to bariatric surgery. RESULTS:For the first time, global metabolic changes following bariatric surgery independent of the baseline health status of the subjects have been revealed. We identify two metabolic phenotypes (metabotypes) at the interval 6 months-baseline after surgery, which presented differences in the levels of compounds of urea metabolism, gluconeogenic precursors and (lyso)phospholipid particles. Clinically, metabotypes were different in terms of the degree of improvement in insulin resistance, cholesterol, low-density lipoproteins and uric acid independent of the magnitude of weight loss. CONCLUSIONS:This study opens new perspectives and new hypotheses on the metabolic benefits of bariatric surgery and understanding of the biology of obesity and its associated diseases.
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- 2018
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11. ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism.
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Estrella Rubio-Solsona, Salvador Martí, Juan J Vílchez, Francesc Palau, and Janet Hoenicka
- Subjects
Medicine ,Science - Abstract
Ankyrin repeat and kinase domain containing 1 (ANKK1) gene has been widely related to neuropsychiatry disorders. The localization of ANKK1 in neural progenitors and its correlation with the cell cycle has suggested its participation in development. However, ANKK1 functions still need to be identified. Here, we have further characterized the ANKK1 localization in vivo and in vitro, by using immunolabeling, quantitative real-time PCR and Western blot in the myogenic lineage. Histologic investigations in mice and humans revealed that ANKK1 is expressed in precursors of embryonic and adult muscles. In mice embryos, ANKK1 was found in migrating myotubes where it shows a polarized cytoplasmic distribution, while proliferative myoblasts and satellite cells show different isoforms in their nuclei and cytoplasm. In vitro studies of ANKK1 protein isoforms along the myogenic progression showed the decline of nuclear ANKK1-kinase until its total exclusion in myotubes. In adult mice, ANKK1 was expressed exclusively in the Fast-Twitch muscles fibers subtype. The induction of glycolytic metabolism in C2C12 cells with high glucose concentration or treatment with berberine caused a significant increase in the ANKK1 mRNA. Similarly, C2C12 cells under hypoxic conditions caused the increase of nuclear ANKK1. These results altogether show a relationship between ANKK1 gene regulation and the metabolism of muscles during development and in adulthood. Finally, we found ANKK1 expression in regenerative fibers of muscles from dystrophic patients. Future studies in ANKK1 biology and the pathological response of muscles will reveal whether this protein is a novel muscle disease biomarker.
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- 2018
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12. Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients.
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Beatriz Soldevilla, Carmen Cuevas-Martín, Clara Ibáñez, Fulvio Santacatterina, María A Alberti, Carolina Simó, Carlos Casasnovas, Celedonio Márquez-Infante, Teresa Sevilla, Samuel I Pascual, María Sánchez-Aragó, Carmen Espinos, Francesc Palau, and José M Cuezva
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Medicine ,Science - Abstract
ObjectiveCharcot-Marie-Tooth 1A (CMT1A) disease is the most common inherited neuropathy that lacks of therapy and of molecular markers to assess disease severity. Herein, we have pursued the identification of potential biomarkers in plasma samples and skin biopsies that could define the phenotype of CMT1A patients at mild (Mi), moderate (Mo) and severe (Se) stages of disease as assessed by the CMT neuropathy score to contribute to the understanding of CMT pathophysiology and eventually inform of the severity of the disease.MethodsWe have used: (i) a high-throughput untargeted metabolomic approach of plasma samples in a cohort of 42 CMT1A patients and 15 healthy controls (CRL) using ultrahigh liquid chromatography coupled to mass spectrometry and (ii) reverse phase protein microarrays to quantitate the expression of some proteins of energy metabolism and of the antioxidant response in skin biopsies of a cohort of 70 CMT1A patients and 13 healthy controls.ResultsThe metabolomic approach identified 194 metabolites with significant differences among the four groups (Mi, Mo, Se, CRL) of samples. A multivariate Linear Discriminant Analysis model using 12 metabolites afforded the correct classification of the samples. These metabolites indicate an increase in protein catabolism and the mobilization of membrane lipids involved in signaling inflammation with severity of CMT1A. A concurrent depletion of leucine, which is required for the biogenesis of the muscle, is also observed in the patients. Protein expression in skin biopsies indicates early loss of mitochondrial and antioxidant proteins in patients' biopsies.ConclusionThe findings indicate that CMT1A disease is associated with a metabolic state resembling inflammation and sarcopenia suggesting that it might represent a potential target to prevent the nerve and muscle wasting phenotype in these patients. The observed changes in metabolites could be useful as potential biomarkers of CMT1A disease after appropriate validation in future longitudinal studies.
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- 2017
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13. Genetic variation associated with cardiovascular risk in autoimmune diseases.
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Pedro P Perrotti, Adrià Aterido, Antonio Fernández-Nebro, Juan D Cañete, Carlos Ferrándiz, Jesús Tornero, Javier P Gisbert, Eugeni Domènech, Benjamín Fernández-Gutiérrez, Fernando Gomollón, Esther García-Planella, Emilia Fernández, Raimon Sanmartí, Jordi Gratacós, Víctor Manuel Martínez-Taboada, Luís Rodríguez-Rodríguez, Núria Palau, Raül Tortosa, Mireia L Corbeto, María L Lasanta, Sara Marsal, Antonio Julià, and IMID Consortium
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Medicine ,Science - Abstract
Autoimmune diseases have a higher prevalence of cardiovascular events compared to the general population. The objective of this study was to investigate the genetic basis of cardiovascular disease (CVD) risk in autoimmunity. We analyzed genome-wide genotyping data from 6,485 patients from six autoimmune diseases that are associated with a high socio-economic impact. First, for each disease, we tested the association of established CVD risk loci. Second, we analyzed the association of autoimmune disease susceptibility loci with CVD. Finally, to identify genetic patterns associated with CVD risk, we applied the cross-phenotype meta-analysis approach (CPMA) on the genome-wide data. A total of 17 established CVD risk loci were significantly associated with CVD in the autoimmune patient cohorts. From these, four loci were found to have significantly different genetic effects across autoimmune diseases. Six autoimmune susceptibility loci were also found to be associated with CVD risk. Genome-wide CPMA analysis identified 10 genetic clusters strongly associated with CVD risk across all autoimmune diseases. Two of these clusters are highly enriched in pathways previously associated with autoimmune disease etiology (TNFα and IFNγ cytokine pathways). The results of this study support the presence of specific genetic variation associated with the increase of CVD risk observed in autoimmunity.
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- 2017
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14. Randomized clinical trial to evaluate the effect of fecal microbiota transplant for initial Clostridium difficile infection in intestinal microbiome.
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Adrián Camacho-Ortiz, Eva María Gutiérrez-Delgado, Jose F Garcia-Mazcorro, Soraya Mendoza-Olazarán, Adrián Martínez-Meléndez, Laura Palau-Davila, Simon D Baines, Héctor Maldonado-Garza, and Elvira Garza-González
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Medicine ,Science - Abstract
The aim of this study was to evaluate the impact of fecal donor-unrelated donor mix (FMT-FURM) transplantation as first-line therapy for C. difficile infection (CDI) in intestinal microbiome.We designed an open, two-arm pilot study with oral vancomycin (250mg every 6 h for 10-14 days) or FMT-FURM as treatments for the first CDI episode in hospitalized adult patients in Hospital Universitario "Dr. Jose Eleuterio Gonzalez". Patients were randomized by a closed envelope method in a 1: 1 ratio to either oral vancomycin or FMT-FURM. CDI resolution was considered when there was a reduction on the Bristol scale of at least 2 points, a reduction of at least 50% in the number of bowel movements, absence of fever, and resolution of abdominal pain (at least two criteria). From each patient, a fecal sample was obtained at days 0, 3, and 7 after treatment. Specimens were cultured to isolate C. difficile, and isolates were characterized by PCR. Susceptibility testing of isolates was performed using the agar dilution method. Fecal samples and FMT-FURM were analyzed by 16S rRNA sequencing.We included 19 patients; 10 in the vancomycin arm and 9 in the FMT-FURM arm. However, one of the patients in the vancomycin arm and two patients in the FMT-FURM arm were eliminated. Symptoms resolved in 8/9 patients (88.9%) in the vancomycin group, while symptoms resolved in 4/7 patients (57.1%) after the first FMT-FURM dose (P = 0.26) and in 5/7 patients (71.4%) after the second dose (P = 0.55). During the study, no adverse effects attributable to FMT-FURM were observed in patients. Twelve isolates were recovered, most isolates carried tcdB, tcdA, cdtA, and cdtB, with an 18-bp deletion in tcdC. All isolates were resistant to ciprofloxacin and moxifloxacin but susceptible to metronidazole, linezolid, fidaxomicin, and tetracycline. In the FMT-FURM group, the bacterial composition was dominated by Firmicutes, Bacteroidetes, and Proteobacteria at all-time points and the microbiota were remarkably stable over time. The vancomycin group showed a very different pattern of the microbial composition when comparing to the FMT-FURM group over time.The results of this preliminary study showed that FMT-FURM for initial CDI is associated with specific bacterial communities that do not resemble the donors' sample.
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- 2017
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15. Differential metabolic profiles associated to movement behaviour of stream-resident brown trout (Salmo trutta).
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Neus Oromi, Mariona Jové, Mariona Pascual-Pons, Jose Luis Royo, Rafel Rocaspana, Enric Aparicio, Reinald Pamplona, Antoni Palau, Delfi Sanuy, Joan Fibla, and Manuel Portero-Otin
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Medicine ,Science - Abstract
The mechanisms that can contribute in the fish movement strategies and the associated behaviour can be complex and related to the physiology, genetic and ecology of each species. In the case of the brown trout (Salmo trutta), in recent research works, individual differences in mobility have been observed in a population living in a high mountain river reach (Pyrenees, NE Spain). The population is mostly sedentary but a small percentage of individuals exhibit a mobile behavior, mainly upstream movements. Metabolomics can reflect changes in the physiological process and can determine different profiles depending on behaviour. Here, a non-targeted metabolomics approach was used to find possible changes in the blood metabolomic profile of S. trutta related to its movement behaviour, using a minimally invasive sampling. Results showed a differentiation in the metabolomic profiles of the trouts and different level concentrations of some metabolites (e.g. cortisol) according to the home range classification (pattern of movements: sedentary or mobile). The change in metabolomic profiles can generally occur during the upstream movement and probably reflects the changes in metabolite profile from the non-mobile season to mobile season. This study reveals the contribution of the metabolomic analyses to better understand the behaviour of organisms.
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- 2017
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16. Dysregulation of H/ACA ribonucleoprotein components in chronic lymphocytic leukemia.
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Patricia Carolina Dos Santos, Julieta Panero, Carmen Stanganelli, Virginia Palau Nagore, Flavia Stella, Raimundo Bezares, and Irma Slavutsky
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Medicine ,Science - Abstract
Telomeres are protective repeats of TTAGGG sequences located at the end of human chromosomes. They are essential to maintain chromosomal integrity and genome stability. Telomerase is a ribonucleoprotein complex containing an internal RNA template (hTR) and a catalytic subunit (hTERT). The human hTR gene consists of three major domains; among them the H/ACA domain is essential for telomere biogenesis. H/ACA ribonucleoprotein (RNP) complex is composed of four evolutionary conserved proteins, including dyskerin (encoded by DKC1 gene), NOP10, NHP2 and GAR1. In this study, we have evaluated the expression profile of the H/ACA RNP complex genes: DKC1, NOP10, NHP2 and GAR1, as well as hTERT and hTR mRNA levels, in patients with chronic lymphocytic leukemia (CLL). Results were correlated with the number and type of genetic alteration detected by conventional cytogenetics and FISH (fluorescence in situ hybridization), IGHV (immunoglobulin heavy chain variable region) mutational status, telomere length (TL) and clinico-pathological characteristics of patients. Our results showed significant decreased expression of GAR1, NOP10, DKC1 and hTR, as well as increased mRNA levels of hTERT in patients compared to controls (p≤0.04). A positive correlation between the expression of GAR1-NHP2, GAR1-NOP10, and NOP10-NHP2 (p
- Published
- 2017
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17. Clinical validation of a next-generation sequencing-based multi-cancer early detection “liquid biopsy” blood test in over 1,000 dogs using an independent testing set: The CANcer Detection in Dogs (CANDiD) study
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Flory, Andi, primary, Kruglyak, Kristina M., additional, Tynan, John A., additional, McLennan, Lisa M., additional, Rafalko, Jill M., additional, Fiaux, Patrick Christian, additional, Hernandez, Gilberto E., additional, Marass, Francesco, additional, Nakashe, Prachi, additional, Ruiz-Perez, Carlos A., additional, Fath, Donna M., additional, Jennings, Thuy, additional, Motalli-Pepio, Rita, additional, Wotrang, Kate, additional, McCleary-Wheeler, Angela L., additional, Lana, Susan, additional, Phillips, Brenda, additional, Flesner, Brian K., additional, Leibman, Nicole F., additional, LaDue, Tracy, additional, Tripp, Chelsea D., additional, Coomber, Brenda L., additional, Woods, J. Paul, additional, Miller, Mairin, additional, Aiken, Sean W., additional, Wolf-Ringwall, Amber, additional, Borgatti, Antonella, additional, Kraska, Kathleen, additional, Thomson, Christopher B., additional, Kosanovich Cahalane, Alane, additional, Murray, Rebecca L., additional, Kisseberth, William C., additional, Camps-Palau, Maria A., additional, Floch, Franck, additional, Beaudu-Lange, Claire, additional, Klajer-Peres, Aurélia, additional, Keravel, Olivier, additional, Fribourg-Blanc, Luc-André, additional, Mazetier, Pascale Chicha, additional, Marco, Angelo, additional, McLeod, Molly B., additional, Portillo, Erin, additional, Clark, Terry S., additional, Judd, Scott, additional, Feinberg, C. Kirk, additional, Benitez, Marie, additional, Runyan, Candace, additional, Hackett, Lindsey, additional, Lafey, Scott, additional, Richardson, Danielle, additional, Vineyard, Sarah, additional, Tefend Campbell, Mary, additional, Dharajiya, Nilesh, additional, Jensen, Taylor J., additional, van den Boom, Dirk, additional, Diaz, Luis A., additional, Grosu, Daniel S., additional, Polk, Arthur, additional, Marsal, Kalle, additional, Hicks, Susan Cho, additional, Lytle, Katherine M., additional, Holtvoigt, Lauren, additional, Chibuk, Jason, additional, Chorny, Ilya, additional, and Tsui, Dana W. Y., additional
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- 2022
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18. Time-Course of Muscle Mass Loss, Damage, and Proteolysis in Gastrocnemius following Unloading and Reloading: Implications in Chronic Diseases.
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Alba Chacon-Cabrera, Helena Lund-Palau, Joaquim Gea, and Esther Barreiro
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Medicine ,Science - Abstract
Disuse muscle atrophy is a major comorbidity in patients with chronic diseases including cancer. We sought to explore the kinetics of molecular mechanisms shown to be involved in muscle mass loss throughout time in a mouse model of disuse muscle atrophy and recovery following immobilization.Body and muscle weights, grip strength, muscle phenotype (fiber type composition and morphometry and muscle structural alterations), proteolysis, contractile proteins, systemic troponin I, and mitochondrial content were assessed in gastrocnemius of mice exposed to periods (1, 2, 3, 7, 15 and 30 days) of non-invasive hindlimb immobilization (plastic splint, I cohorts) and in those exposed to reloading for different time-points (1, 3, 7, 15, and 30 days, R cohorts) following a seven-day period of immobilization. Groups of control animals were also used.Compared to non-exposed controls, muscle weight, limb strength, slow- and fast-twitch cross-sectional areas, mtDNA/nDNA, and myosin content were decreased in mice of I cohorts, whereas tyrosine release, ubiquitin-proteasome activity, muscle injury and systemic troponin I levels were increased. Gastrocnemius reloading following splint removal improved muscle mass loss, strength, fiber atrophy, injury, myosin content, and mtDNA/nDNA, while reducing ubiquitin-proteasome activity and proteolysis.A consistent program of molecular and cellular events leading to reduced gastrocnemius muscle mass and mitochondrial content and reduced strength, enhanced proteolysis, and injury, was seen in this non-invasive mouse model of disuse muscle atrophy. Unloading of the muscle following removal of the splint significantly improved the alterations seen during unloading, characterized by a specific kinetic profile of molecular events involved in muscle regeneration. These findings have implications in patients with chronic diseases including cancer in whom physical activity may be severely compromised.
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- 2016
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19. Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
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Dèlia Yubero, Núria Brandi, Aida Ormazabal, Àngels Garcia-Cazorla, Belén Pérez-Dueñas, Jaime Campistol, Antonia Ribes, Francesc Palau, Rafael Artuch, Judith Armstrong, and Working Group
- Subjects
Medicine ,Science - Abstract
Next-generation sequencing (NGS) technology has allowed the promotion of genetic diagnosis and are becoming increasingly inexpensive and faster. To evaluate the utility of NGS in the clinical field, a targeted genetic panel approach was designed for the diagnosis of a set of inborn errors of metabolism (IEM). The final aim of the study was to compare the findings for the diagnostic yield of NGS in patients who presented with consistent clinical and biochemical suspicion of IEM with those obtained for patients who did not have specific biomarkers.The subjects studied (n = 146) were classified into two categories: Group 1 (n = 81), which consisted of patients with clinical and biochemical suspicion of IEM, and Group 2 (n = 65), which consisted of IEM cases with clinical suspicion and unspecific biomarkers. A total of 171 genes were analyzed using a custom targeted panel of genes followed by Sanger validation.Genetic diagnosis was achieved in 50% of patients (73/146). In addition, the diagnostic yield obtained for Group 1 was 78% (63/81), and this rate decreased to 15.4% (10/65) in Group 2 (X2 = 76.171; p < 0.0001).A rapid and effective genetic diagnosis was achieved in our cohort, particularly the group that had both clinical and biochemical indications for the diagnosis.
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- 2016
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20. Clinical validation of a next-generation sequencing-based multi-cancer early detection 'liquid biopsy' blood test in over 1,000 dogs using an independent testing set: The CANcer Detection in Dogs (CANDiD) study
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Andi Flory, Kristina M. Kruglyak, John A. Tynan, Lisa M. McLennan, Jill M. Rafalko, Patrick Christian Fiaux, Gilberto E. Hernandez, Francesco Marass, Prachi Nakashe, Carlos A. Ruiz-Perez, Donna M. Fath, Thuy Jennings, Rita Motalli-Pepio, Kate Wotrang, Angela L. McCleary-Wheeler, Susan Lana, Brenda Phillips, Brian K. Flesner, Nicole F. Leibman, Tracy LaDue, Chelsea D. Tripp, Brenda L. Coomber, J. Paul Woods, Mairin Miller, Sean W. Aiken, Amber Wolf-Ringwall, Antonella Borgatti, Kathleen Kraska, Christopher B. Thomson, Alane Kosanovich Cahalane, Rebecca L. Murray, William C. Kisseberth, Maria A. Camps-Palau, Franck Floch, Claire Beaudu-Lange, Aurélia Klajer-Peres, Olivier Keravel, Luc-André Fribourg-Blanc, Pascale Chicha Mazetier, Angelo Marco, Molly B. McLeod, Erin Portillo, Terry S. Clark, Scott Judd, C. Kirk Feinberg, Marie Benitez, Candace Runyan, Lindsey Hackett, Scott Lafey, Danielle Richardson, Sarah Vineyard, Mary Tefend Campbell, Nilesh Dharajiya, Taylor J. Jensen, Dirk van den Boom, Luis A. Diaz, Daniel S. Grosu, Arthur Polk, Kalle Marsal, Susan Cho Hicks, Katherine M. Lytle, Lauren Holtvoigt, Jason Chibuk, Ilya Chorny, and Dana W. Y. Tsui
- Subjects
Osteosarcoma ,Multidisciplinary ,Dogs ,Hematologic Tests ,Hemangiosarcoma ,Biomarkers, Tumor ,Liquid Biopsy ,Animals ,High-Throughput Nucleotide Sequencing ,Humans ,Early Detection of Cancer - Abstract
Cancer is the leading cause of death in dogs, yet there are no established screening paradigms for early detection. Liquid biopsy methods that interrogate cancer-derived genomic alterations in cell-free DNA in blood are being adopted for multi-cancer early detection in human medicine and are now available for veterinary use. The CANcer Detection in Dogs (CANDiD) study is an international, multi-center clinical study designed to validate the performance of a novel multi-cancer early detection “liquid biopsy” test developed for noninvasive detection and characterization of cancer in dogs using next-generation sequencing (NGS) of blood-derived DNA; study results are reported here. In total, 1,358 cancer-diagnosed and presumably cancer-free dogs were enrolled in the study, representing the range of breeds, weights, ages, and cancer types seen in routine clinical practice; 1,100 subjects met inclusion criteria for analysis and were used in the validation of the test. Overall, the liquid biopsy test demonstrated a 54.7% (95% CI: 49.3–60.0%) sensitivity and a 98.5% (95% CI: 97.0–99.3%) specificity. For three of the most aggressive canine cancers (lymphoma, hemangiosarcoma, osteosarcoma), the detection rate was 85.4% (95% CI: 78.4–90.9%); and for eight of the most common canine cancers (lymphoma, hemangiosarcoma, osteosarcoma, soft tissue sarcoma, mast cell tumor, mammary gland carcinoma, anal sac adenocarcinoma, malignant melanoma), the detection rate was 61.9% (95% CI: 55.3–68.1%). The test detected cancer signal in patients representing 30 distinct cancer types and provided a Cancer Signal Origin prediction for a subset of patients with hematological malignancies. Furthermore, the test accurately detected cancer signal in four presumably cancer-free subjects before the onset of clinical signs, further supporting the utility of liquid biopsy as an early detection test. Taken together, these findings demonstrate that NGS-based liquid biopsy can offer a novel option for noninvasive multi-cancer detection in dogs.
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- 2021
21. Mechanism of Action of Two Flavone Isomers Targeting Cancer Cells with Varying Cell Differentiation Status.
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Timothy M LeJeune, Hei Yin Tsui, Laura B Parsons, Gerald E Miller, Crystal Whitted, Kayla E Lynch, Robert E Ramsauer, Jasmine U Patel, Jarrett E Wyatt, Doris S Street, Carolyn B Adams, Brian McPherson, Hei Man Tsui, Julie A Evans, Christopher Livesay, Ruben D Torrenegra, and Victoria E Palau
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Medicine ,Science - Abstract
Apoptosis can be triggered in two different ways, through the intrinsic or the extrinsic pathway. The intrinsic pathway is mediated by the mitochondria via the release of cytochrome C while the extrinsic pathway is prompted by death receptor signals and bypasses the mitochondria. These two pathways are closely related to cell proliferation and survival signaling cascades, which thereby constitute possible targets for cancer therapy. In previous studies we introduced two plant derived isomeric flavonoids, flavone A and flavone B which induce apoptosis in highly tumorigenic cancer cells of the breast, colon, pancreas, and the prostate. Flavone A displayed potent cytotoxic activity against more differentiated carcinomas of the colon (CaCo-2) and the pancreas (Panc28), whereas flavone B cytotoxic action is observed on poorly differentiated carcinomas of the colon (HCT 116) and pancreas (MIA PaCa). Apoptosis is induced by flavone A in better differentiated colon cancer CaCo-2 and pancreatic cancer Panc 28 cells via the intrinsic pathway by the inhibition of the activated forms of extracellular signal-regulated kinase (ERK) and pS6, and subsequent loss of phosphorylation of Bcl-2 associated death promoter (BAD) protein, while apoptosis is triggered by flavone B in poorly differentiated colon cancer HCT 116 and MIA PaCa pancreatic cancer cells through the extrinsic pathway with the concomitant upregulation of the phosphorylated forms of ERK and c-JUN at serine 73. These changes in protein levels ultimately lead to activation of apoptosis, without the involvement of AKT.
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- 2015
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22. Prognostic value of the interaction between galectin-3 and antigen carbohydrate 125 in acute heart failure.
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Julio Núñez, Gabriel A Rabinovich, Justo Sandino, Luis Mainar, Patricia Palau, Enrique Santas, Maria Pilar Villanueva, Eduardo Núñez, Vicent Bodí, Francisco J Chorro, Gema Miñana, and Juan Sanchis
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Medicine ,Science - Abstract
AIMS:Galectin-3 (Gal-3) and carbohydrate antigen 125 (CA125) have emerged as robust prognostic biomarkers in heart failure. Experimental data have also suggested a potential molecular interaction between CA125 and Gal-3; however, the biological and clinical relevance of this interaction is still uncertain. We sought to evaluate, in patients admitted for acute heart failure, the association between plasma Gal-3 with all-cause mortality and the risk for rehospitalizations among high and low levels of CA125. METHODS AND RESULTS:We included 264 consecutive patients admitted for acute heart failure to the Cardiology Department in a third-level center. Both biomarkers were measured on admission. Negative binomial and Cox regression models were used to evaluate the prognostic effect of the interaction between Gal-3 and CA125 (dichotomized by its median) with hospital readmission and all-cause mortality, respectively. During a median follow-up of 2 years (IQR = 1-2.8), 108 (40.9%) patients deaths and 365 rehospitalizations in 171 (69.5%) patients were registered. In a multivariable setting, the effect of Gal-3 on mortality and rehospitalization was differentially mediated by CA125 (p = 0.007 and p67 U/ml), values across the continuum of Gal-3 showed a positive and almost linear relationship with either the risk of death or rehospitalization. Conversely, when CA125 was below median (≤67 U/ml), Gal-3 lacked any prognostic effect on both endpoints. CONCLUSION:In patients with acute heart failure, Gal-3 was strongly associated with higher risk of long-term mortality and repeated rehospitalizations, but only in those patients exhibiting higher values of CA125 (above 67 U/ml).
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- 2015
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23. Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species.
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Eduardo Calpena, Francesc Palau, Carmen Espinós, and Máximo Ibo Galindo
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Medicine ,Science - Abstract
The Smyd gene family code for proteins containing a conserved core consisting of a SET domain interrupted by a MYND zinc finger. Smyd proteins are important in epigenetic control of development and carcinogenesis, through posttranslational modifications in histones and other proteins. Previous reports indicated that the Smyd family is quite variable in metazoans, so a rigorous phylogenetic reconstruction of this complex gene family is of central importance to understand its evolutionary history and functional diversification or conservation. We have performed a phylogenetic analysis of Smyd protein sequences, and our results show that the extant metazoan Smyd genes can be classified in three main classes, Smyd3 (which includes chordate-specific Smyd1 and Smyd2 genes), Smyd4 and Smyd5. In addition, there is an arthropod-specific class, SmydA. While the evolutionary history of the Smyd3 and Smyd5 classes is relatively simple, the Smyd4 class has suffered several events of gene loss, gene duplication and lineage-specific expansions in the animal phyla included in our analysis. A more specific study of the four Smyd4 genes in Drosophila melanogaster shows that they are not redundant, since their patterns of expression are different and knock-down of individual genes can have dramatic phenotypes despite the presence of the other family members.
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- 2015
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24. Exacerbation of celecoxib-induced renal injury by concomitant administration of misoprostol in rats.
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Dustin L Cooper, Derek E Murrell, Christopher M Conder, Victoria E Palau, Grace E Campbell, Shaun P Lynch, James W Denham, Angela V Hanley, Kenny W Bullins, Peter C Panus, Krishna Singh, and Sam Harirforoosh
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Medicine ,Science - Abstract
Nonsteroidal anti-inflammatory drugs (NSAIDs) can produce adverse effects by inhibiting prostaglandin (PG) synthesis. A PGE1 analogue, misoprostol, is often utilized to alleviate NSAID-related gastrointestinal side effects. This study examined the effect of misoprostol on celecoxib renal toxicity. Additionally, the effects of these drugs on cardiovascular parameters were evaluated. Four randomized rat groups were orally gavaged for 9 days, two groups receiving vehicle and two groups receiving misoprostol (100 µg/kg) twice daily. Celecoxib (40 mg/kg) was co-administered once daily to one vehicle and one misoprostol group from days 3 to 9. Urine and blood samples were collected and blood pressure parameters were measured during the study period. Hearts and kidneys were harvested on final day. Day 2 urinary electrolyte samples revealed significant reductions in sodium excretion in misoprostol (0.12 ± 0.05 µmol/min/100 g) and misoprostol+celecoxib groups (0.07 ± 0.02 µmol/min/100 g). At day 3, all treatment groups showed significantly reduced sodium excretion. Potassium excretion diminished significantly in vehicle+celecoxib and misoprostol+celecoxib groups from day 3 onward. Urinary kidney injury molecule-1 levels were significantly increased in vehicle+celecoxib (0.65 ± 0.02 vs. 0.35 ± 0.07 ng/mL, p = 0.0002) and misoprostol+celecoxib (0.61 ± 0.06 vs. 0.37 ± 0.06 ng/mL, p = 0.0015) groups when compared to baseline; while plasma levels of cardiac troponin I increased significantly in vehicle+celecoxib (p = 0.0040) and misoprostol+misoprostol (p = 0.0078) groups when compared to vehicle+vehicle. Blood pressure parameters increased significantly in all misoprostol treated groups. Significant elevation in diastolic (p = 0.0071) and mean blood pressure (p = 0.0153) was noted in misoprostol+celecoxib compared to vehicle+celecoxib. All treatments produced significant tubular dilatation/necrosis compared to control. No significant myocardial changes were noticed; however, three animals presented with pericarditis. Kidney, heart, and plasma celecoxib levels revealed no significant change between vehicle+celecoxib and misoprostol+celecoxib. Concomitant misoprostol administration did not prevent celecoxib renal toxicity, and instead exacerbated renal side effects. Misoprostol did not alter plasma or tissue celecoxib concentrations suggesting no pharmacokinetic interaction between celecoxib and misoprostol.
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- 2014
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25. Influence of milk-feeding type and genetic risk of developing coeliac disease on intestinal microbiota of infants: the PROFICEL study.
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Giada De Palma, Amalia Capilla, Esther Nova, Gemma Castillejo, Vicente Varea, Tamara Pozo, José Antonio Garrote, Isabel Polanco, Ana López, Carmen Ribes-Koninckx, Ascensión Marcos, María Dolores García-Novo, Carmen Calvo, Luis Ortigosa, Luis Peña-Quintana, Francesc Palau, and Yolanda Sanz
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Medicine ,Science - Abstract
Interactions between environmental factors and predisposing genes could be involved in the development of coeliac disease (CD). This study has assessed whether milk-feeding type and HLA-genotype influence the intestinal microbiota composition of infants with a family history of CD. The study included 164 healthy newborns, with at least one first-degree relative with CD, classified according to their HLA-DQ genotype by PCR-SSP DQB1 and DQA1 typing. Faecal microbiota was analysed by quantitative PCR at 7 days, and at 1 and 4 months of age. Significant interactions between milk-feeding type and HLA-DQ genotype on bacterial numbers were not detected by applying a linear mixed-model analysis for repeated measures. In the whole population, breast-feeding promoted colonization of C. leptum group, B. longum and B. breve, while formula-feeding promoted that of Bacteroides fragilis group, C. coccoides-E. rectale group, E. coli and B. lactis. Moreover, increased numbers of B. fragilis group and Staphylococcus spp., and reduced numbers of Bifidobacterium spp. and B. longum were detected in infants with increased genetic risk of developing CD. Analyses within subgroups of either breast-fed or formula-fed infants indicated that in both cases increased risk of CD was associated with lower numbers of B. longum and/or Bifidobacterium spp. In addition, in breast-fed infants the increased genetic risk of developing CD was associated with increased C. leptum group numbers, while in formula-fed infants it was associated with increased Staphylococcus and B. fragilis group numbers. Overall, milk-feeding type in conjunction with HLA-DQ genotype play a role in establishing infants' gut microbiota; moreover, breast-feeding reduced the genotype-related differences in microbiota composition, which could partly explain the protective role attributed to breast milk in this disorder.
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- 2012
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26. Differential expression of PGC-1α and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblasts.
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José Luis García-Giménez, Amparo Gimeno, Pilar Gonzalez-Cabo, Francisco Dasí, Arantxa Bolinches-Amorós, Belén Mollá, Francesc Palau, and Federico V Pallardó
- Subjects
Medicine ,Science - Abstract
Friedreich's ataxia (FRDA) is a mitochondrial rare disease, which molecular origin is associated with defect in the expression of frataxin. The pathological consequences are degeneration of nervous system structures and cardiomyopathy with necrosis and fibrosis, among others.Using FRDA fibroblasts we have characterized the oxidative stress status and mitochondrial biogenesis. We observed deficiency of MnSOD, increased ROS levels and low levels of ATP. Expression of PGC-1α and mtTFA was increased and the active form of the upstream signals p38 MAPK and AMPK in fibroblasts from two patients. Interestingly, the expression of energetic factors correlated with the natural history of disease of the patients, the age when skin biopsy was performed and the size of the GAA expanded alleles. Furthermore, idebenone inhibit mitochondriogenic responses in FRDA cells.The induction of mitochondrial biogenesis in FRDA may be a consequence of the mitochondrial impairment associated with disease evolution. The increase of ROS and the involvement of the oxidative phosphorylation may be an early event in the cell pathophysiology of frataxin deficiency, whereas increase of mitochondriogenic response might be a later phenomenon associated to the individual age and natural history of the disease, being more evident as the patient age increases and disease evolves. This is a possible explanation of heart disease in FRDA.
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- 2011
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27. Flavin adenine dinucleotide rescues the phenotype of frataxin deficiency.
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Pilar Gonzalez-Cabo, Sheila Ros, and Francesc Palau
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Medicine ,Science - Abstract
BACKGROUND: Friedreich ataxia is a neurodegenerative disease caused by the lack of frataxin, a mitochondrial protein. We previously demonstrated that frataxin interacts with complex II subunits of the electronic transport chain (ETC) and putative electronic transfer flavoproteins, suggesting that frataxin could participate in the oxidative phosphorylation. METHODS AND FINDINGS: Here we have investigated the effect of riboflavin and its cofactors flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) in Saccharomyces cerevisiae and Caenorhabditis elegans models of frataxin deficiency. We used a S. cerevisiae strain deleted for the yfh1 gene obtained by homologous recombination and we assessed growth in fermentable and non-fermentable cultures supplemented with either riboflavin or its derivates. Experiments with C. elegans were performed in transient knock-down worms (frh-1[RNAi]) generated by microinjection of dsRNA frh-1 into the gonads of young worms. We observed that FAD rescues the phenotype of both defective organisms. We show that cell growth and enzymatic activities of the ETC complexes and ATP production of yfh1Delta cells were improved by FAD supplementation. Moreover, FAD also improved lifespan and other physiological parameters in the C. elegans knock-down model for frataxin. CONCLUSIONS/SIGNIFICANCE: We propose that rescue of frataxin deficiency by FAD supplementation could be explained by an improvement in mitochondrial respiration. We suggest that riboflavin may be useful in the treatment of Friedreich ataxia.
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- 2010
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28. Evaluation of Newcastle Disease antibody titers in backyard poultry in Germany with a vaccination interval of twelve weeks
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Oberländer, Björn, primary, Failing, Klaus, additional, Jüngst, Celina M., additional, Neuhaus, Nicole, additional, Lierz, Michael, additional, and Möller Palau-Ribes, Franca, additional
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- 2020
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29. ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism
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Francesc Palau, Juan J. Vílchez, Janet Hoenicka, Estrella Rubio-Solsona, and Salvador Martí
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Male ,0301 basic medicine ,Cytoplasm ,Cellular differentiation ,lcsh:Medicine ,Muscle Proteins ,Biochemistry ,Muscular Dystrophies ,Myoblasts ,Immunolabeling ,Animal Cells ,Morphogenesis ,Medicine and Health Sciences ,Myocyte ,lcsh:Science ,Child ,Musculoskeletal System ,Mice, Inbred BALB C ,Multidisciplinary ,medicine.diagnostic_test ,Myogenesis ,Stem Cells ,Muscles ,Cell Differentiation ,Middle Aged ,Cell cycle ,Muscle Differentiation ,Cell Hypoxia ,Cell biology ,Female ,Cellular Types ,Cellular Structures and Organelles ,Anatomy ,C2C12 ,Muscle Regeneration ,Research Article ,Adult ,Gene isoform ,Protein Serine-Threonine Kinases ,Biology ,Muscle Fibers ,Cell Line ,03 medical and health sciences ,Western blot ,medicine ,Animals ,Humans ,Regeneration ,Muscle, Skeletal ,Cell Proliferation ,Cell Nucleus ,Muscle Cells ,Fast-Twitch Muscle Fibers ,lcsh:R ,Infant ,Correction ,Biology and Life Sciences ,Proteins ,Cell Biology ,Skeletal Muscle Fibers ,Mice, Inbred C57BL ,030104 developmental biology ,lcsh:Q ,Organism Development ,Developmental Biology - Abstract
Ankyrin repeat and kinase domain containing 1 (ANKK1) gene has been widely related to neuropsychiatry disorders. The localization of ANKK1 in neural progenitors and its correlation with the cell cycle has suggested its participation in development. However, ANKK1 functions still need to be identified. Here, we have further characterized the ANKK1 localization in vivo and in vitro, by using immunolabeling, quantitative real-time PCR and Western blot in the myogenic lineage. Histologic investigations in mice and humans revealed that ANKK1 is expressed in precursors of embryonic and adult muscles. In mice embryos, ANKK1 was found in migrating myotubes where it shows a polarized cytoplasmic distribution, while proliferative myoblasts and satellite cells show different isoforms in their nuclei and cytoplasm. In vitro studies of ANKK1 protein isoforms along the myogenic progression showed the decline of nuclear ANKK1-kinase until its total exclusion in myotubes. In adult mice, ANKK1 was expressed exclusively in the Fast-Twitch muscles fibers subtype. The induction of glycolytic metabolism in C2C12 cells with high glucose concentration or treatment with berberine caused a significant increase in the ANKK1 mRNA. Similarly, C2C12 cells under hypoxic conditions caused the increase of nuclear ANKK1. These results altogether show a relationship between ANKK1 gene regulation and the metabolism of muscles during development and in adulthood. Finally, we found ANKK1 expression in regenerative fibers of muscles from dystrophic patients. Future studies in ANKK1 biology and the pathological response of muscles will reveal whether this protein is a novel muscle disease biomarker.
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- 2018
30. Efficacy of liposomal amphotericin B and anidulafungin using an antifungal lock technique (ALT) for catheter-related Candida albicans and Candida glabrata infections in an experimental model
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Basas, Jana, primary, Palau, Marta, additional, Gomis, Xavier, additional, Almirante, Benito, additional, and Gavaldà, Joan, additional
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- 2019
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31. Gut microbiota dynamics and functionality in Reticulitermes grassei after a 7-day dietary shift and ciprofloxacin treatment
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Berlanga, Mercedes, primary, Palau, Montserrat, additional, and Guerrero, Ricardo, additional
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- 2018
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32. Dysregulation of H/ACA ribonucleoprotein components in chronic lymphocytic leukemia
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Irma Slavutsky, Raimundo F. Bezares, Virginia Palau Nagore, Flavia Stella, Carmen Stanganelli, Julieta Panero, and Patricia Dos Santos
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Male ,0301 basic medicine ,Telomerase ,Gene Expression ,lcsh:Medicine ,Biochemistry ,Hematologic Cancers and Related Disorders ,0302 clinical medicine ,TELOMERES ,Gene expression ,Medicine and Health Sciences ,lcsh:Science ,In Situ Hybridization, Fluorescence ,Telomere Length ,Ribonucleoprotein ,Aged, 80 and over ,Chronic Lymphoblastic Leukemia ,Multidisciplinary ,medicine.diagnostic_test ,Chromosome Biology ,Hematology ,purl.org/becyt/ford/3.1 [https] ,Middle Aged ,Telomere ,Prognosis ,Complementary DNA ,Nucleic acids ,Medicina Básica ,Telomeres ,Ribonucleoproteins ,Oncology ,030220 oncology & carcinogenesis ,Lymphoblastic Leukemia ,Female ,purl.org/becyt/ford/3 [https] ,IGHV@ ,Research Article ,Adult ,Chromosome Structure and Function ,GENE EXPRESSION ,CIENCIAS MÉDICAS Y DE LA SALUD ,Forms of DNA ,Inmunología ,Biology ,Real-Time Polymerase Chain Reaction ,Chromosomes ,Dyskerin ,Cytogenetics ,03 medical and health sciences ,TELOMERASE ,Leukemias ,Genetics ,medicine ,Humans ,Telomerase reverse transcriptase ,Aged ,Gene Expression Profiling ,lcsh:R ,Biology and Life Sciences ,Proteins ,Cancers and Neoplasms ,Human Genetics ,Cell Biology ,DNA ,H/ACA RIBONUCLEOPROTEIN (RNP) COMPLEX ,Leukemia, Lymphocytic, Chronic, B-Cell ,Virology ,Molecular biology ,030104 developmental biology ,lcsh:Q ,Fluorescence in situ hybridization ,GENOMIC INSTABILITY - Abstract
Telomeres are protective repeats of TTAGGG sequences located at the end of human chromosomes. They are essential to maintain chromosomal integrity and genome stability. Telomerase is a ribonucleoprotein complex containing an internal RNA template (hTR) and a catalytic subunit (hTERT). The human hTR gene consists of three major domains; among them the H/ACA domain is essential for telomere biogenesis. H/ACA ribonucleoprotein (RNP) complex is composed of four evolutionary conserved proteins, including dyskerin (encoded by DKC1 gene), NOP10, NHP2 and GAR1. In this study, we have evaluated the expression profile of the H/ACA RNP complex genes: DKC1, NOP10, NHP2 and GAR1, as well as hTERT and hTR mRNA levels, in patients with chronic lymphocytic leukemia (CLL). Results were correlated with the number and type of genetic alteration detected by conventional cytogenetics and FISH (fluorescence in situ hybridization), IGHV (immunoglobulin heavy chain variable region) mutational status, telomere length (TL) and clinico pathological characteristics of patients. Our results showed significant decreased expression of GAR1, NOP10, DKC1 and hTR, as well as increased mRNA levels of hTERT in patients compared to controls (p=0.04). A positive correlation between the expression of GAR1-NHP2, GAR1-NOP10, and NOP10-NHP2 (p=0.0001), were observed. The analysis taking into account prognostic factors showed a significant increased expression of hTERT gene in unmutated-IGHV cases compared to mutated-CLL patients (p = 0.0185). The comparisons among FISH groups exhibited increased expression of DKC1 in cases with two or more alterations with respect to no abnormalities, trisomy 12 and del13q14, and of NHP2 and NOP10 compared to those with del13q14 (p = 0.03). The analysis according to TL showed a significant increased expression of hTERT (p = 0.0074) and DKC1 (p = 0.0036) in patients with short telomeres compared to those with long TL. No association between gene expression and clinical parameters was found. Our results suggest a role for these telomere associated genes in genomic instability and telomere dysfunction in CLL. Fil: Dos Santos, Patricia Carolina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina Fil: Panero, Julieta. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina Fil: Stanganelli, Carmen Graciela. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina Fil: Palau Nagore, Maria Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina Fil: Stella, Flavia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina Fil: Bezares, Raimundo F.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Dr. Teodoro Álvarez"; Argentina Fil: Slavutsky, Irma Rosa. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
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- 2017
33. Choice of the initial antiretroviral treatment for HIV-positive individuals in the era of integrase inhibitors
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Alejos, Belen, Suarez-Garcia, Ines, Bisbal, Otilia, Antonio Iribarren, Jose, Asensi, Victor, Gorgolas, Miguel, Muga, Roberto, Moreno, Santiago, Jarrin, Inma, Dalmau, David, Luisa Navarro, Maria, Isabel Gonzalez, Maria, Luis Blanco, Jose, Garcia, Federico, Rubio, Rafael, Gutierrez, Felix, Vidal, Francesc, Berenguer, Juan, Gonzalez, Juan, Hernando, Victoria, Moreno, Cristina, Iniesta, Carlos, Garcia Sousa, Luis Miguel, Sanz Perez, Nieves, Angeles Munoz-Fernandez, M., Maria Garcia-Merino, Isabel, Consuegra Fernandez, Irene, Gomez Rico, Coral, Gallego De la Fuente, Jorge, Palau Concejo, Paula, Portilla, Joaquin, Merino, Esperanza, Reus, Sergio, Boix, Vicente, Giner, Livia, Gadea, Carmen, Portilla, Irene, Pampliega, Maria, Diez, Marcos, Carlos Rodriguez, Juan, Sanchez-Paya, Jose, Luis Gomez, Juan, Hernandez, Jehovana, Remedios Aleman, Maria, del Mar Alonso, Maria, Inmaculada Hernandez, Maria, Diaz-Flores, Felicitas, Garcia, Dacil, Pelazas, Ricardo, Lopez Lirola, Ana, Sanz Moreno, Jose, Arranz Caso, Alberto, Hernandez Gutierrez, Cristina, Novella Mena, Maria, Pulido, Federico, Hernando, Asuncion, Dominguez, Lourdes, Rial Crestelo, David, Bermejo, Laura, Santacreu, Mireia, Arrizabalaga, Julio, Jose Aramburu, Maria, Camino, Xabier, Rodriguez-Arrondo, Francisco, Angel von Wichmann, Miguel, Pascual Tome, Lidia, Angel Goenaga, Miguel, Jesus Bustin-Duy, Ma, Azkune, Harkaitz, Ibarguren, Maialen, Lizardi, Aitziber, Kortajarena, Xabier, Masia, Mar, Padilla, Sergio, Navarro, Andres, Montolio, Fernando, Robledano, Catalina, Gregori Colome, Joan, Adsuar, Araceli, Pascual, Rafael, Fernandez, Marta, Garcia, Elena, Alberto Garcia, Jose, Barber, Xavier, Sanvisens, Arantza, Fuster, Daniel, Lopez Bernaldo de Quiros, Juan Carlos, Gutierrez, Isabel, Ramirez, Margarita, Padilla, Belen, Gijon, Paloma, Aldamiz-Echevarria, Teresa, Tejerina, Francisco, Jose Parras, Francisco, Balsalobre, Pascual, Diez, Cristina, Perez Latorre, Leire, Peraire, Joaquin, Vilades, Consuelo, Veloso, Sergio, Vargas, Montserrat, Lopez-Dupla, Miguel, Olona, Montserrat, Rull, Anna, Rodriguez-Gallego, Esther, Alba, Veronica, Montero Alonso, Marta, Lopez Aldeguer, Jose, Blanes Julia, Marino, Tasias Pitarch, Maria, Castro Hernandez, Ivan, Calabuig Munoz, Eva, Cuellar Tovar, Sandra, Salavert Lleti, Miguel, Fernandez Navarro, Juan, Gonzalez-garcia, Juan, Arnalich, Francisco, Ramon Arribas, Jose, Bernardino de la Serna, Jose Ignacio, Miguel Castro, Juan, Escosa, Luis, Herranz, Pedro, Hontanon, Victor, Garcia-Bujalance, Silvia, Garcia Lopez-Hortelano, Milagros, Gonzalez-Baeza, Alicia, Luz Martin-Carbonero, Maria, Mayoral, Mario, Jose Mellado, Maria, Esteban Mican, Rafael, Montejano, Rocio, Luisa Montes, Maria, Moreno, Victoria, Perez-Valero, Ignacio, Rodes, Berta, Sainz, Talia, Sendagorta, Elena, Stella Alcariz, Natalia, Valencia, Eulalia, Ramon Blanco, Jose, Antonio Oteo, Jose, Ibarra, Valvanera, Metola, Luis, Sanz, Mercedes, Perez-Martinez, Laura, Arazo, Piedad, Samperiz, Gloria, Jaen, Angels, Sanmarti, Montse, Cairo, Mireia, Martinez-Lacasa, Javier, Velli, Pablo, Font, Roser, Xercavins, Mariona, Alonso, Noemi, Rivero, Maria, Reparaz, Jesus, Gracia Ruiz de Alda, Maria, de Leon Cano, Maria Teresa, Pierola Ruiz de Galarreta, Beatriz, Segura, Ferran, Jose Amengual, Maria, Navarro, Gemma, Sala, Montserrat, Cervantes, Manuel, Pineda, Valentin, Calzado, Sonia, Navarro, Marta, de los Santos, Ignacio, Sanz Sanz, Jesus, Salas Aparicio, Ana, Sarria Cepeda, Cristina, Garcia-Fraile Fraile, Lucio, Martin Gayo, Enrique, Luis Casado, Jose, Dronda, Fernando, Moreno, Ana, Perez Elias, Maria Jesus, Gomez Ayerbe, Cristina, Gutierrez, Carolina, Madrid, Nadia, del Campo Terron, Santos, Marti, Paloma, Ansa, Uxua, Serrano, Sergio, Jesus Vivancos, Maria, Bernal, Enrique, Cano, Alfredo, Alcaraz Garcia, Antonia, Bravo Urbieta, Joaquin, Munoz, Angeles, Jose Alcaraz, Maria, del Carmen Villalba, Maria, Hernandez, Jose, Pena, Alejandro, Munoz, Leopoldo, Casas, Paz, Alvarez, Marta, Chueca, Natalia, Vinuesa, David, Martinez-Montes, Clara, Del Romero, Jorge, Rodriguez, Carmen, Puerta, Teresa, Carlos Carrio, Juan, Vera, Mar, Ballesteros, Juan, Ayerdi, Oskar, Antela, Antonio, Losada, Elena, Riera, Melchor, Penaranda, Maria, Leyes, Maria, Angels Ribas, Ma, Campins, Antoni A., Vidal, Carmen, Fanjul, Francisco, Murillas, Javier, Homar, Francisco, Santos, Jesus, Gomez Ayerbe, Crisitina, Viciana, Isabel, Palacios, Rosario, Maria Gonzalez, Carmen, Viciana, Pompeyo, Espinosa, Nuria, Fernando Lopez-Cortes, Luis, Podzamczer, Daniel, Ferrer, Elena, Imaz, Arkaitz, Tiraboschi, Juan, Silva, Ana, Saumoy, Maria, Ribera, Esteban, Curran, Adrian, Olalla, Julian, del Arco, Alfonso, de la Torre, Javier, Luis Prada, Jose, de Lomas Guerrero, Jose Maria Garcia, Perez Stachowski, Javier, Juan Martinez, Onofre, Jesus Vera, Francisco, Martinez, Lorena, Garcia, Josefina, Alcaraz, Begona, Jimeno, Amaya, Castro Iglesias, Angeles, Pernas Souto, Berta, Mena de Cea, Alvaro, Munoz, Josefa, Zurine Zubero, Miren, Mirena Baraia-Etxaburu, Josu, Ibarra Ugarte, Sofia, Ferrero Beneitez, Oscar Luis, Lopez de Munain, Josefina, Camara Lopez, Ma Mar, de la Pena, Mireia, Lopez, Miriam, Galera, Carlos, Albendin, Helena, Perez, Aurora, Iborra, Asuncion, Moreno, Antonio, Angustias Merlos, Maria, Vidal, Asuncion, Amador, Concha, Pasquau, Francisco, Ena, Javier, Benito, Concha, Fenoll, Vicenta, Gil Anguita, Concepcion, Algado Rabasa, Jose Tomas, Malmierca, Eduardo, Gonzalez-Ruano, Patricia, Martin Rodrigo, Dolores, Ruiz Seco, Ma Pilar, Omar Mohamed-Balghata, Mohamed, Gomez Vidal, Maria Amparo, Alberto de Zarraga, Miguel, Estrada Perez, Vicente, Tellez Molina, Maria Jesus, Vergas Garcia, Jorge, Perez-Somarriba Moreno, Juncal, Cabello, Alfonso, Alvarez, Beatriz, Prieto, Laura, Galindo Puerto, Maria Jose, Fernando Vilalta, Ramon, Ferrer Ribera, Ana, Rivero Roman, Antonio, Brieva Herrero, Maria Teresa, Rivero Juarez, Antonio, Lopez Lopez, Pedro, Machuca Sanchez, Isabel, Pena Martinez, Jose, Cervero Jimenez, Miguel, Torres Perea, Rafael, Jusdado Ruiz-Capillas, Juan Jose, Pineda, Juan A., CoRIS Cohort, Instituto de Salud Carlos III, Red Española de Investigación en SIDA, European Commission, ViiV Healthcare, Red de Investigación Cooperativa en Investigación en Sida (España), and Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF)
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Male ,European People ,Spanish People ,Health Care Providers ,Pathology and Laboratory Medicine ,seropositividad al VIH ,Geographical locations ,0302 clinical medicine ,Immunodeficiency Viruses ,Abacavir ,HIV Seropositivity ,Odds Ratio ,Ethnicities ,Public and Occupational Health ,mediana edad ,Antiretrovirals ,adulto ,cociente de probabilidades relativas ,antirretrovirales ,Anti-Retroviral Agents ,Medical Microbiology ,Viral Pathogens ,Medicine ,medicine.medical_specialty ,Sida ,Science ,Immunology ,030106 microbiology ,Investigación médica ,Men WHO Have Sex with Men ,Integrase Inhibitors ,Microbiology ,Tenofovir alafenamide ,03 medical and health sciences ,SDG 3 - Good Health and Well-being ,Physicians ,Humans ,Microbial Pathogens ,Pharmacology ,Organisms ,Biology and Life Sciences ,Raltegravir ,Health Care ,Regimen ,chemistry ,Population Groupings ,Preventive Medicine ,Sexuality Groupings ,RNA viruses ,0301 basic medicine ,Medical Doctors ,humanos ,Tratamiento médico ,chemistry.chemical_compound ,Antiretroviral Therapy, Highly Active ,Medicine and Health Sciences ,Medical Personnel ,030212 general & internal medicine ,Hispanic People ,Multidisciplinary ,Antimicrobials ,Cobicistat ,Drugs ,Viral Load ,Middle Aged ,Antivirals ,Vaccination and Immunization ,Europe ,Professions ,Rilpivirine ,Viruses ,Female ,Pathogens ,inhibidores de la integrasa ,Research Article ,medicine.drug ,Adult ,Antiretroviral Therapy ,Emtricitabine ,Antiviral Therapy ,Microbial Control ,Virology ,Internal medicine ,Retroviruses ,medicine ,European Union ,análisis multifactorial ,business.industry ,Lentivirus ,HIV ,Spain ,People and Places ,Multivariate Analysis ,Ritonavir ,business ,Viral Transmission and Infection - Abstract
CoRIS cohort., [Background] We aimed to describe the most frequently prescribed initial antiretroviral therapy (ART) regimens in recent years in HIV-positive persons in the Cohort of the Spanish HIV/AIDS Research Network (CoRIS) and to investigate factors associated with the choice of each regimen., [Methods] We analyzed initial ART regimens prescribed in adults participating in CoRIS from 2014 to 2017. Only regimens prescribed in >5% of patients were considered. We used multivariable multinomial regression to estimate Relative Risk Ratios (RRRs) for the association between sociodemographic and clinical characteristics and the choice of the initial regimen., [Results] Among 2874 participants, abacavir(ABC)/lamivudine(3TC)/dolutegavir(DTG) was the most frequently prescribed regimen (32.1%), followed by tenofovir disoproxil fumarate (TDF)/emtricitabine (FTC)/elvitegravir(EVG)/cobicistat(COBI) (14.9%), TDF/FTC/rilpivirine (RPV) (14.0%), tenofovir alafenamide (TAF)/FTC/EVG/COBI (13.7%), TDF/FTC+DTG (10.0%), TDF/FTC+darunavir/ritonavir or darunavir/cobicistat (bDRV) (9.8%) and TDF/FTC+raltegravir (RAL) (5.6%). Compared with ABC/3TC/DTG, starting TDF/FTC/RPV was less likely in patients with CD4100.000 copies/mL. TDF/FTC+DTG was more frequent in those with CD4100.000 copies/mL. TDF/FTC+RAL and TDF/FTC+bDRV were also more frequent among patients with CD4, [Conclusions] The choice of initial ART regimens is consistent with Spanish guidelines’ recommendations, but is also clearly influenced by physician’s perception based on patient’s clinical and sociodemographic variables and by the prescribing hospital location., The RIS cohort (CoRIS) is supported by the Instituto de Salud Carlos III through the Red Temática de Investigación Cooperativa en Sida (RD06/006, RD12/0017/0018 and RD16/0002/0006) as part of the Plan Nacional I+D+i and cofinanced by ISCIII-Subdirección General de Evaluación and the Fondo Europeo de Desarrollo Regional (FEDER). This study was funded by ViiV Healthcare.
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- 2019
34. Correction: ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism
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Rubio-Solsona, Estrella, primary, Martí, Salvador, additional, Vílchez, Juan J., additional, Palau, Francesc, additional, and Hoenicka, Janet, additional
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- 2018
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35. Metabotypes of response to bariatric surgery independent of the magnitude of weight loss
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Palau-Rodriguez, Magali, primary, Tulipani, Sara, additional, Marco-Ramell, Anna, additional, Miñarro, Antonio, additional, Jáuregui, Olga, additional, Sanchez-Pla, Alex, additional, Ramos-Molina, Bruno, additional, Tinahones, Francisco J., additional, and Andres-Lacueva, Cristina, additional
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- 2018
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36. ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism
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Rubio-Solsona, Estrella, primary, Martí, Salvador, additional, Vílchez, Juan J., additional, Palau, Francesc, additional, and Hoenicka, Janet, additional
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- 2018
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37. Randomized clinical trial to evaluate the effect of fecal microbiota transplant for initial Clostridium difficile infection in intestinal microbiome
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Camacho-Ortiz, Adrián, primary, Gutiérrez-Delgado, Eva María, additional, Garcia-Mazcorro, Jose F., additional, Mendoza-Olazarán, Soraya, additional, Martínez-Meléndez, Adrián, additional, Palau-Davila, Laura, additional, Baines, Simon D., additional, Maldonado-Garza, Héctor, additional, and Garza-González, Elvira, additional
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- 2017
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38. Time-Course of Muscle Mass Loss, Damage, and Proteolysis in Gastrocnemius following Unloading and Reloading: Implications in Chronic Diseases
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Esther Barreiro, Helena Lund-Palau, Joaquim Gea, and Alba Chacon-Cabrera
- Subjects
0301 basic medicine ,Time Factors ,Muscle Physiology ,Physiology ,medicine.medical_treatment ,Muscle Proteins ,lcsh:Medicine ,Hindlimb ,Pathology and Laboratory Medicine ,Biochemistry ,Grip strength ,Mice ,Animal Cells ,Myosin ,Troponin I ,Medicine and Health Sciences ,Malalties cròniques ,lcsh:Science ,Musculoskeletal System ,Energy-Producing Organelles ,Multidisciplinary ,biology ,Muscles ,Gastrocnemius Muscles ,Muscle Biochemistry ,Animal Models ,Troponin ,Mitochondria ,Muscular Atrophy ,Female ,Anatomy ,Cellular Types ,Cellular Structures and Organelles ,Splint (medicine) ,Research Article ,medicine.medical_specialty ,Mouse Models ,Bioenergetics ,Real-Time Polymerase Chain Reaction ,Research and Analysis Methods ,Muscle Fibers ,03 medical and health sciences ,Gastrocnemius muscle ,Immobilization ,Atrophy ,Model Organisms ,Signs and Symptoms ,Diagnostic Medicine ,Internal medicine ,medicine ,Animals ,Muscle Strength ,Muscle, Skeletal ,business.industry ,Fast-Twitch Muscle Fibers ,Músculs ,lcsh:R ,Biology and Life Sciences ,Proteins ,DNA ,Cell Biology ,Skeletal Muscle Fibers ,medicine.disease ,Mitochondria, Muscle ,Mice, Inbred C57BL ,Disease Models, Animal ,Cytoskeletal Proteins ,030104 developmental biology ,Endocrinology ,Chronic Disease ,Proteolysis ,biology.protein ,lcsh:Q ,business - Abstract
BACKGROUND: Disuse muscle atrophy is a major comorbidity in patients with chronic diseases including cancer. We sought to explore the kinetics of molecular mechanisms shown to be involved in muscle mass loss throughout time in a mouse model of disuse muscle atrophy and recovery following immobilization. METHODS: Body and muscle weights, grip strength, muscle phenotype (fiber type composition and morphometry and muscle structural alterations), proteolysis, contractile proteins, systemic troponin I, and mitochondrial content were assessed in gastrocnemius of mice exposed to periods (1, 2, 3, 7, 15 and 30 days) of non-invasive hindlimb immobilization (plastic splint, I cohorts) and in those exposed to reloading for different time-points (1, 3, 7, 15, and 30 days, R cohorts) following a seven-day period of immobilization. Groups of control animals were also used. RESULTS: Compared to non-exposed controls, muscle weight, limb strength, slow- and fast-twitch cross-sectional areas, mtDNA/nDNA, and myosin content were decreased in mice of I cohorts, whereas tyrosine release, ubiquitin-proteasome activity, muscle injury and systemic troponin I levels were increased. Gastrocnemius reloading following splint removal improved muscle mass loss, strength, fiber atrophy, injury, myosin content, and mtDNA/nDNA, while reducing ubiquitin-proteasome activity and proteolysis. CONCLUSIONS: A consistent program of molecular and cellular events leading to reduced gastrocnemius muscle mass and mitochondrial content and reduced strength, enhanced proteolysis, and injury, was seen in this non-invasive mouse model of disuse muscle atrophy. Unloading of the muscle following removal of the splint significantly improved the alterations seen during unloading, characterized by a specific kinetic profile of molecular events involved in muscle regeneration. These findings have implications in patients with chronic diseases including cancer in whom physical activity may be severely compromised. This study has been supported by the following Spanish agencies: CIBERES, PI14/00713 (FEDER), and SAF-2014-54371-R (FEDER) from the Instituto de Salud Carlos III (http://www.isciii.es/); SEPAR 2013 and SEPAR 2016 from Spanish Respiratory Society (SEPAR, http://www.separ.es/); and Catalan Foundation of Pneumology (FUCAP, http://www.ccfundacions.cat/fundacions/fundacio-catalana-de-pneumologia-fucap), FUCAP 2016
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- 2016
39. Correction: ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism
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Juan J. Vílchez, Janet Hoenicka, Estrella Rubio-Solsona, Francesc Palau, and Salvador Martí
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ANKK1 ,Multidisciplinary ,Text mining ,Biochemistry ,business.industry ,Chemistry ,lcsh:R ,lcsh:Medicine ,lcsh:Q ,Glycolysis ,Metabolism ,lcsh:Science ,business - Abstract
[This corrects the article DOI: 10.1371/journal.pone.0197254.].
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- 2018
40. Differential metabolic profiles associated to movement behaviour of stream-resident brown trout (Salmo trutta)
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Oromi, Neus, primary, Jové, Mariona, additional, Pascual-Pons, Mariona, additional, Royo, Jose Luis, additional, Rocaspana, Rafel, additional, Aparicio, Enric, additional, Pamplona, Reinald, additional, Palau, Antoni, additional, Sanuy, Delfi, additional, Fibla, Joan, additional, and Portero-Otin, Manuel, additional
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- 2017
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41. Dysregulation of H/ACA ribonucleoprotein components in chronic lymphocytic leukemia
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Dos Santos, Patricia Carolina, primary, Panero, Julieta, additional, Stanganelli, Carmen, additional, Palau Nagore, Virginia, additional, Stella, Flavia, additional, Bezares, Raimundo, additional, and Slavutsky, Irma, additional
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- 2017
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42. Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients
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Soldevilla, Beatriz, primary, Cuevas-Martín, Carmen, additional, Ibáñez, Clara, additional, Santacatterina, Fulvio, additional, Alberti, María A., additional, Simó, Carolina, additional, Casasnovas, Carlos, additional, Márquez-Infante, Celedonio, additional, Sevilla, Teresa, additional, Pascual, Samuel I., additional, Sánchez-Aragó, María, additional, Espinos, Carmen, additional, Palau, Francesc, additional, and Cuezva, José M., additional
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- 2017
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43. Genetic variation associated with cardiovascular risk in autoimmune diseases
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Perrotti, Pedro P., Aterido, Adrià, Fernández Nebro, Antonio, Cañete Crespillo, Juan D., Ferrándiz, Carlos, Tornero, Jesús, Gisbert, Javier P., Domènech, Eugeni, Fernández Gutiérrez, Benjamín, Gomollón, Fernando, Garcia Planella, Esther, Fernández, Emilia, Sanmartí, Raimon, Gratacós, Jordi, Martínez Taboada, Víctor Manuel, Rodríguez Rodríguez, Luis, Palau, Núria, Tortosa, Raül, Corbeto, Mireia L., Lasanta, María L., Marsal, Sara, Julià, Antonio, Nolla Solé, Joan Miquel, Montilla, Carlos, Ramírez, Julio, Universitat de Barcelona, and Universidad de Cantabria
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Male ,0301 basic medicine ,lcsh:Medicine ,Autoimmunity ,Disease ,Cardiovascular Medicine ,medicine.disease_cause ,Polymorphism (computer science) ,Medicine and Health Sciences ,lcsh:Science ,education.field_of_study ,Multidisciplinary ,Malalties autoimmunitàries ,Genomics ,Cardiovascular Diseases ,Female ,Research Article ,Immunology ,Population ,Polymorphism, Single Nucleotide ,Autoimmune Diseases ,03 medical and health sciences ,Genetic variation ,Genetics ,Genome-Wide Association Studies ,medicine ,Humans ,Genetic Predisposition to Disease ,education ,Genotyping ,Autoimmune disease ,Evolutionary Biology ,Population Biology ,Malalties cardiovasculars ,business.industry ,lcsh:R ,Biology and Life Sciences ,Computational Biology ,Genetic Variation ,Human Genetics ,Genome Analysis ,medicine.disease ,030104 developmental biology ,Genetic Loci ,Genetics of Disease ,Genetic Polymorphism ,Etiology ,lcsh:Q ,Clinical Immunology ,Clinical Medicine ,business ,Genètica ,Population Genetics - Abstract
Autoimmune diseases have a higher prevalence of cardiovascular events compared to the general population. The objective of this study was to investigate the genetic basis of cardiovascular disease (CVD) risk in autoimmunity. We analyzed genome-wide genotyping data from 6,485 patients from six autoimmune diseases that are associated with a high socioeconomic impact. First, for each disease, we tested the association of established CVD risk loci. Second, we analyzed the association of autoimmune disease susceptibility loci with CVD. Finally, to identify genetic patterns associated with CVD risk, we applied the cross-phenotype meta-analysis approach (CPMA) on the genome-wide data. A total of 17 established CVD risk loci were significantly associated with CVD in the autoimmune patient cohorts. From these, four loci were found to have significantly different genetic effects across autoimmune diseases. Six autoimmune susceptibility loci were also found to be associated with CVD risk. Genome-wide CPMA analysis identified 10 genetic clusters strongly associated with CVD risk across all autoimmune diseases. Two of these clusters are highly enriched in pathways previously associated with autoimmune disease etiology (TNF alpha and IFN gamma cytokine pathways). The results of this study support the presence of specific genetic variation associated with the increase of CVD risk observed in autoimmunity.
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- 2017
44. Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients
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Clara Ibáñez, Teresa Sevilla, Carlos Casasnovas, Carmen Cuevas-Martín, José M. Cuezva, Carolina Simó, Carmen Espinós, Fulvio Santacatterina, Samuel I. Pascual, Francesc Palau, Beatriz Soldevilla, Celedonio Márquez-Infante, María Sánchez-Aragó, Maria Antonia Alberti, UAM. Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa (CBM), Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ), Instituto de Salud Carlos III, and Universitat de Barcelona
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0301 basic medicine ,Pathology ,Peripheral neuropathy ,Physiology ,Biopsy ,Cell Membranes ,Protein metabolism ,Linear Discriminant Analysis ,Biochemistry ,chemistry.chemical_compound ,0302 clinical medicine ,Malalties hereditàries ,Metabolites ,Medicine and Health Sciences ,Membrane Metabolism ,Medicine ,Prospective Studies ,Prospective cohort study ,Skin ,Protein Metabolism ,Multidisciplinary ,medicine.diagnostic_test ,Middle Aged ,Biología y Biomedicina / Biología ,Body Fluids ,Ultrahigh liquid chromatography ,Protein catabolism ,Blood ,CMT1A ,Neurology ,Metabolome ,Cellular Structures and Organelles ,Anatomy ,medicine.symptom ,Research Article ,Genetic diseases ,Adult ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Medicina ,Science ,Surgical and Invasive Medical Procedures ,Inflammation ,macromolecular substances ,Amiotròfia neural progressiva de Charcot-Marie-Tooth ,Charcot-Marie-Tooth disease ,Potential biomarkers in plasma ,Blood Plasma ,03 medical and health sciences ,Metabolomics ,Humans ,Clinical genetics ,business.industry ,Proteins ,Biology and Life Sciences ,Cell Biology ,medicine.disease ,nervous system diseases ,Neuropathy ,Metabolism ,030104 developmental biology ,chemistry ,Sarcopenia ,Energy Metabolism ,business ,Biomarkers ,030217 neurology & neurosurgery - Abstract
Objective: Charcot-Marie-Tooth 1A (CMT1A) disease is the most common inherited neuropathy that lacks of therapy and of molecular markers to assess disease severity. Herein, we have pursued the identification of potential biomarkers in plasma samples and skin biopsies that could define the phenotype of CMT1A patients at mild (Mi), moderate (Mo) and severe (Se) stages of disease as assessed by the CMT neuropathy score to contribute to the understanding of CMT pathophysiology and eventually inform of the severity of the disease. Methods: We have used: (i) a high-throughput untargeted metabolomic approach of plasma samples in a cohort of 42 CMT1A patients and 15 healthy controls (CRL) using ultrahigh liquid chromatography coupled to mass spectrometry and (ii) reverse phase protein microarrays to quantitate the expression of some proteins of energy metabolism and of the antioxidant response in skin biopsies of a cohort of 70 CMT1A patients and 13 healthy controls. Results: The metabolomic approach identified 194 metabolites with significant differences among the four groups (Mi, Mo, Se, CRL) of samples. A multivariate Linear Discriminant Analysis model using 12 metabolites afforded the correct classification of the samples. These metabolites indicate an increase in protein catabolism and the mobilization of membrane lipids involved in signaling inflammation with severity of CMT1A. A concurrent depletion of leucine, which is required for the biogenesis of the muscle, is also observed in the patients. Protein expression in skin biopsies indicates early loss of mitochondrial and antioxidant proteins in patients' biopsies. Conclusion: The findings indicate that CMT1A disease is associated with a metabolic state resembling inflammation and sarcopenia suggesting that it might represent a potential target to prevent the nerve and muscle wasting phenotype in these patients. The observed changes in metabolites could be useful as potential biomarkers of CMT1A disease after appropriate validation in future longitudinal studies., ISCIII grant IR11/TREAT-CMT, Instituto de Salud Carlos III (to CC, CM, TS, SIP, CE, FP and JMC
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- 2017
45. Time-Course of Muscle Mass Loss, Damage, and Proteolysis in Gastrocnemius following Unloading and Reloading: Implications in Chronic Diseases
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Chacon-Cabrera, Alba, primary, Lund-Palau, Helena, additional, Gea, Joaquim, additional, and Barreiro, Esther, additional
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- 2016
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46. Mechanism of Action of Two Flavone Isomers Targeting Cancer Cells with Varying Cell Differentiation Status
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LeJeune, Timothy M., primary, Tsui, Hei Yin, additional, Parsons, Laura B., additional, Miller, Gerald E., additional, Whitted, Crystal, additional, Lynch, Kayla E., additional, Ramsauer, Robert E., additional, Patel, Jasmine U., additional, Wyatt, Jarrett E., additional, Street, Doris S., additional, Adams, Carolyn B., additional, McPherson, Brian, additional, Tsui, Hei Man, additional, Evans, Julie A., additional, Livesay, Christopher, additional, Torrenegra, Ruben D., additional, and Palau, Victoria E., additional
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- 2015
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47. Familial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series
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Palau, F, Sieni, E, Cetica, V, Piccin, A, Gherlinzoni, F, Sasso, Fc, Rabusin, M, Attard, L, Bos, A, Pende, D, Moretta, Lorenzo, and Arico', M.
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Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Science ,Immune Cells ,Population ,Immunology ,T cells ,Genetic Counseling ,Disease ,NK cells ,Clinical immunology ,Lymphohistiocytosis, Hemophagocytic ,Molecular Genetics ,Autosomal Recessive ,Genetic Mutation ,Molecular Cell Biology ,medicine ,Genetics ,Genetics of the Immune System ,Humans ,Genetic Testing ,Family history ,Age of Onset ,education ,Biology ,Female ,Agricultural and Biological Sciences (all) ,Biochemistry, Genetics and Molecular Biology (all) ,Medicine (all) ,Clinical Genetics ,Cytopenia ,education.field_of_study ,Multidisciplinary ,business.industry ,Human Genetics ,Familial Hemophagocytic Lymphohistiocytosis ,Hematology ,medicine.disease ,Transplantation ,Genetics of Disease ,Medicine ,Age of onset ,Differential diagnosis ,business ,Cytometry ,Research Article - Abstract
Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare immune deficiency with defective cytotoxic function. The age at onset is usually young and the natural course is rapidly fatal if untreated. A later onset of the disease has been sporadically reported even in adolescents and adults. We report the results of our retrospective data collection of all cases diagnosed with FHL at an age of 18 years or older and enrolled in the Italian Registry of HLH. All cases were diagnosed with FHL based on evidence of genetic defect in one FHL-related gene. A total of 11 patients were diagnosed with FHL. They were 9 males and 2 females, from 10 unrelated families; their age ranged between 18 and 43 years (median, 23 years). Family history was unremarkable in eight families at the time of the diagnosis. Their genetic diagnoses are: FHL2 (n = 6), FHL3 (n = 2), FHL5 (n = 1), XLP1 (n = 2). Clinical, molecular and functional data are described. These data confirm that FHL may present beyond the pediatric age and up to the fifth decade. FHL2 due to perforin defect is the most frequently reported subtype. Adult specialists should consider FHL in the differential diagnosis of patients with cytopenia and liver or central nervous system disorders, especially when a lymphoproliferative disease is suspected but eventually not confirmed. FHL may turn to be fatal within a short time course even in adults. This risk, together with the continuous improvement in the transplant technique, especially in the area of transplant from matched unrelated donor, resulting in reduced treatment related mortality, might suggest a wider use of SCT in this population. Current diagnostic approach allows prompt identification of patients by flow-cytometry screening, then confirmed by the genetic study, and treatment with chemo-immunotherapy followed by stem cell transplantation.
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- 2012
48. Predictors of death among patients who completed tuberculosis treatment: a population-based cohort study
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Millet, Juan Pablo, Orcau i Palau, Àngels, Rius, Cristina, Casals, Martí, Garcia de Olalla, Patricia, Moreno, Antonio, Nelson, Jeanne L., Caylà i Buqueras, Joan A., Miró Meda, José M., Barcelona Tuberculosis Working Group., and Universitat de Barcelona
- Subjects
Bacterial Diseases ,Adult ,Male ,medicine.medical_specialty ,Tuberculosis ,Epidemiology ,Clinical Research Design ,Tuberculosi ,lcsh:Medicine ,Cohort Studies ,Population based cohort ,Pharmacotherapy ,Medical statistics ,Internal medicine ,Mortalitat ,Humans ,Medicine ,Mortality ,lcsh:Science ,Biology ,Poverty ,Aged ,Retrospective Studies ,Multidisciplinary ,Population Biology ,business.industry ,Mortality rate ,lcsh:R ,Tropical Diseases (Non-Neglected) ,Extensively drug-resistant tuberculosis ,Retrospective cohort study ,Middle Aged ,medicine.disease ,Surgery ,Barcelona (Catalonia) ,Substance abuse ,Barcelona (Catalunya) ,Infectious Diseases ,Pobresa ,Spain ,Cohort ,Female ,lcsh:Q ,Estadística mèdica ,business ,Research Article - Abstract
Background: Mortality among patients who complete tuberculosis (TB) treatment is still high among vulnerable populations. The objective of the study was to identify the probability of death and its predictive factors in a cohort of successfully treated TB patients. Methods: A population-based retrospective longitudinal study was performed in Barcelona, Spain. All patients who successfully completed TB treatment with culture-confirmation and available drug susceptibility testing between 1995-1997 were retrospectively followed-up until December 31, 2005 by the Barcelona TB Control Program. Socio-demographic, clinical, microbiological and treatment variables were examined. Mortality, TB Program and AIDS registries were reviewed. Kaplan-Meier and a Cox regression methods with time-dependent covariates were used for the survival analysis, calculating the hazard ratio (HR) with 95% confidence intervals (CI). Results: Among the 762 included patients, the median age was 36 years, 520 (68.2%) were male, 178 (23.4%) HIV-infected, and 208 (27.3%) were alcohol abusers. Of the 134 (17.6%) injecting drug users (IDU), 123 (91.8%) were HIV-infected. A total of 30 (3.9%) recurrences and 173 deaths (22.7%) occurred (mortality rate: 3.4/100 person-years of follow-up). The predictors of death were: age between 41-60 years old (HR: 3.5; CI: 2.1-5.7), age greater than 60 years (HR: 14.6; CI: 8.9-24), alcohol abuse (HR: 1.7; CI: 1.2-2.4) and HIV-infected IDU (HR: 7.9; CI: 4.7-13.3). Conclusions: The mortality rate among TB patients who completed treatment is associated with vulnerable populations such as the elderly, alcohol abusers, and HIV-infected IDU. We therefore need to fight against poverty, and promote and develop interventions and social policies directed towards these populations to improve their survival.
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- 2011
49. Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species
- Author
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Calpena, Eduardo, primary, Palau, Francesc, additional, Espinós, Carmen, additional, and Galindo, Máximo Ibo, additional
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- 2015
- Full Text
- View/download PDF
50. Prognostic Value of the Interaction between Galectin-3 and Antigen Carbohydrate 125 in Acute Heart Failure
- Author
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Núñez, Julio, primary, Rabinovich, Gabriel A., additional, Sandino, Justo, additional, Mainar, Luis, additional, Palau, Patricia, additional, Santas, Enrique, additional, Villanueva, Maria Pilar, additional, Núñez, Eduardo, additional, Bodí, Vicent, additional, Chorro, Francisco J., additional, Miñana, Gema, additional, and Sanchis, Juan, additional
- Published
- 2015
- Full Text
- View/download PDF
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