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Varga R.-E.,University Hospital Jena | Mumtaz R.,University Hospital Jena | Jahic A.,University Hospital Jena | Rudenskaya G.E.,Russian Academy of Medical Sciences | And 5 more authors.
Analytical Biochemistry | Year: 2012

Multiplex ligation-dependent probe amplification (MLPA) has become a standard method for identifying copy number mutations in diagnostic and research settings. The occurrence of false-positive deletion findings and the underlying causes are well recognized, whereas false-positive duplication/amplification findings have not been appreciated so far. We here present three pertinent cases which were only identified on extended, nonstandard secondary analyses. We also offer and experimentally validate a potential explanation. Our findings imply that MLPA data indicating gain of genomic sequence require validation on an independent sample or by an independent method. © 2011 Elsevier Inc. All rights reserved. Source


Ortega F.,Hospital Central Universitario Of Asturias | Otero A.,Hospital Universitario runa | Crespo J.F.,Hospital Doctor Peset | Delgado J.F.,Hospital Doce de Octubre | And 2 more authors.
Journal of Nephrology | Year: 2013

Background: The aim of this study was to analyze patient satisfaction and adherence in a sample of renal transplant patients living with a working allograft. Methods: An epidemiological cross-sectional multicenter study was carried out with renal recipients who had received a transplant 6-24 months before and were undergoing immunosuppressant therapy (IT). Sociodemographic and clinical variables registered were dosage, allograft functioning, number of medications, health-related quality of life (HRQoL by SF-6D), patients' satisfaction (SAT-Q) and adherence to medication (abnormal levels of immunosuppressant in blood tests [ALIBT] and clinical impression). Relationships between those parameters were contrasted (chi-square test, Spearman correlation coefficient and Mann-Whitney U-test). Multivariate regression models (linear and logistic) were computed to analyze the factors related to patients' satisfaction and adherence to medication, respectively. Results: Data from 206 patients were collected (61.2% males with a mean age of 53.35 years). Nonadherence rates (29.1% and 31.1%) were found according to clinical impression and ALIBT, respectively (chi-square = 31.810, p<0.001). Overall, global patients' satisfaction (74.000 ± 1.251) and HRQoL (0.765 ± 0.011) levels were high. Low-moderate significant associations between satisfaction and adherence to IT and HRQoL were found (p<0.01). Finally, age, vitality, allograft functioning and dosage were correlated with patient satisfaction (R2=0.174; F(1,185)=4.134; p<0.043). Number of medications (odds ratio [OR] = 0.890; 95% confidence interval [95% CI], 0.812-0.975; p=0.012), convenience domain (OR=1.037; 95% CI, 1.005-1.070; p=0.021) and clinical criteria (OR=6.135; 95% CI, 2.945-12.782; p<0.001) were associated with adherence. Conclusions: In renal transplant patients, satisfaction with IT is related to the levels of HRQoL and compliance. © 2012 Società Italiana di Nefrologia. Source


Serrano-Castro P.J.,Complejo Hospitalario Torrecardenas | Mauri-Llerda J.A.,Hospital Clinico Universitario Lozano Blesa | Garcia A.,Hospital Central Universitario Of Asturias | Rocamora R.,Hospital Del Mar | And 2 more authors.
Revista de Neurologia | Year: 2016

Introduction. Treatment adherence is a factor that is affecting the effectiveness of antiepileptic drugs. Levetiracetam is a drug whose effectiveness and safety is well established and is available in different oral formulations (granulates in sachets, tablets, oral solution), but information on treatment adherence/compliance with these oral formulations is limited. Aim. To determine treatment adherence with levetiracetam formulations (granulates in sachets, tablets) in adult and elderly people. Patients and methods. Retrospective observational non-interventionist study. During the three months before the study patients should be treated with levetiracetam (granulates in sachets or tablets), either alone or in combination. Compliance tests (Green-Morisky modified test) as well as a satisfaction questionnaire investigator and patient/caregiver is assessed. Data were analyzed using SPSS v. 21.0 program. Results. A total of 466 patients completed the study. The average age was 52.75 ± 19.17 years old and the average over 65 years of 72.79 ± 6.15. 55.4% were men. Compliance is related to the variable ‘pharmaceutical formulation’ and with age (p = 0.031). The risk of non-compliance was 86.4% higher among those taking tablets versus granulates in sachets of levetiracetam (odds ratio: 1.864). Likewise, the non-compliance was greater among patients over 65 years. The noncompliance was related to attributing of memory failures. Conclusions. Patients older are more difficult to compliance. The granulates levetiracetam in sachets improves compliance. © 2016 Revista de Neurología. Source


Caballero S.,Hospital General Universitario | Martorell A.,Hospital General Universitario | Escribano A.,University of Valencia | Belda J.,Hospital Central Universitario Of Asturias
Journal of Investigational Allergology and Clinical Immunology | Year: 2013

Background: Leukotrienes (LT), isoprostanes, and nitrites/nitrates are biomarkers of airway inflammation and oxidative stress that can be detected in exhaled breath condensate (EBC). The aim of this study was to evaluate LTB4, LTE4, 8-isoprostane, and nitrite/nitrate levels in the EBC of healthy and wheezing preschool children. Methods: We included 21 healthy nonatopic children and 25 patients with recurrent wheezing episodes in a cross-sectional study. LTB4, LTE4, and 8-isoprostane concentrations were measured directly in EBC using a specific enzyme immunoassay; nitrite/nitrate concentrations were measured using a colorimetric assay. Results: LTB4 concentrations were higher in children with wheezing episodes than in healthy controls (76 pg/mL vs 20 pg/mL, P<.001). LTE4 was increased in children with wheezing episodes than in healthy controls (68 pg/mL vs 35 pg/mL, P<.001). Nitrite concentrations were higher in children with wheezing episodes than in healthy controls (14 pg/mL vs 9.7 pg/mL, P<.03). We found no differences in 8-isoprostane and nitrate concentrations between the patients and the healthy controls. Conclusions: Our findings suggest that EBC is a suitable noninvasive method for the assessment of airway inflammation and oxidative stress in preschool children. Levels of LTB4, LTE4, and nitrites were higher in children with recurrent wheezing episodes than in healthy controls. © 2013 Esmon Publicidad. Source


Cuesta A.,University of Oviedo | Del Valle M.E.,University of Oviedo | Garcia-Suarez O.,University of Oviedo | Vina E.,University of Oviedo | And 8 more authors.
Connective Tissue Research | Year: 2014

Acid-sensing ion channels (ASICs) are a family of H+-gated voltage-insensitive ion channels that respond to extracellular acidification by regulating transmembrane Ca2+ flux. Moreover, ASICs can also be gated by mechanical forces and may function as mechanosensors. The cells of the intervertebral disc (IVD) have an unusual acidic and hyperosmotic microenvironment. Changes in the pH and osmolarity determine the viability of IVD cells and the composition of the extracellular matrix, and both are the basis of IVD degeneration. In this study, the expression of ASICs (ASIC1, ASIC2, ASIC3 and ASIC4) mRNAs and proteins in human healthy and degenerated IVD was evaluated by quantitative reverse transcription-quantitative polymerase chain reaction and Western blot. The distribution of ASIC proteins was determined by immunohistochemistry. The mRNAs for all ASICs were detected in normal human IVD, and significantly increased levels were found in degenerated IVD. Western blots demonstrated the presence of proteins with estimated molecular weights of approximately 68-72 kDa. In both the annulus fibrosus (AF) and nucleus pulposus (NP) of normal IVD, ASIC2 is the most frequently expressed ASIC followed by ASIC3, ASIC1 and ASIC4. In the AF of degenerated IVD, there was a significant increase in the number of ASIC1 and ASIC4 positive cells, whereas in the NP, we found significant increase of expression of ASIC1, ASIC2 and ASIC3. These results describe the occurrence and localization of different ASICs in human healthy IVD, and their increased expression in degenerated IVD, thus suggesting that ASICs may be involved in IVD degeneration. © 2014 Informa Healthcare USA, Inc. Source

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