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Jimenez-Jaimez J.,University of Granada | Peinado R.,La Paz University HospitalMadrid | Grima E.Z.,University of Valencia | Segura F.,Gran Canaria Island Hospital | And 12 more authors.
American Journal of Cardiology | Year: 2015

Unexplained cardiac arrest (UCA) can be caused by low-penetrance genetic disorders. The aim of this cross-sectional study is to assess the usefulness of a new diagnostic protocol: Thirty-five patients were recruited from 9 Spanish centers. Electrocardiogram, echocardiogram, and coronary catheterization were used to rule out electrical or structural heart disease in all subjects. Patients underwent pharmacologic tests with epinephrine and flecainide, followed by assessment of family members using electrocardiogram and echocardiogram, and next-generation genetic sequencing to analyze 126 genes if all the other test results were negative. A firm diagnosis of channelopathy required phenotypic proof of the condition in unmasking tests, the presence of a pathogenic variant consistent with the phenotype observed, and/or co-segregation of the mutation found in a family member's phenotype. A firm diagnosis was made in 18 cases. The diagnoses were 7 Brugada syndrome, 5 catecholaminergic polymorphic ventricular tachycardia, 3 long QT syndrome, 2 early repolarization syndrome, and 1 short QT syndrome. Pharmacologic testing was the most frequent method of diagnosis. In 5 cases, the diagnosis was made based on positive genetic testing without phenotypic alterations. In conclusion, this sequential diagnostic protocol allows diagnoses to be made in approximately half of the UCA cases. These diagnoses are low clinical penetrance channelopathies. If interpreted carefully, genetic tests can be a useful tool for diagnosing UCA without a phenotype. © 2015 Elsevier Inc. Source


Luque J.A.B.,Riotinto Hospital | Luque A.B.,Quiron Sagrado Corazon Hospital | Menchero J.G.,Riotinto Hospital | Grau J.M.S.,Riotinto Hospital | And 3 more authors.
Surgical Endoscopy and Other Interventional Techniques | Year: 2016

Background: Laparoscopic ventral or incisional hernia repair requires intraperitoneal mesh placement. This is associated with an increase in adhesions, bowel obstruction and enterocutaneous fistula. Intraabdominal meshes are laparoscopically fixed using traumatic fixation methods that increase acute, chronic pain and adhesions to bowel loops. The aim was to check the safety and effectiveness of the laparoscopic approach in ventral or incisional hernia, using a self-adhesive mesh in the preperitoneal space without tacks or transfascial sutures, and to objectively assess its benefits and complications. Methods: Patients aged between 18 and 67 years old with medial, lateral ventral and incisional hernias between 3 and 8 cm in size were included in this study. Fifty patients were included in the study, which was conducted between January 2013 and March 2015. Results: The average length of surgery was 57.3 ± 18 min. The average hospital stay was 1.1 ± 0.3 days. The average time taken to return to work was 9.2 ± 2.4 days. The most common post-operative complication was seroma, which was observed in 13 patients (26 %). The average follow-up was 15.4 ± 5.5 months. Three patients were lost to follow-up during this period. There was no hernia recurrence during examination nor on CT scan during the follow-up period. The average score on the visual analogue scale before surgery was 4 ± 1. After surgery, the score was as follows: 3 ± 0.8 on the first day after surgery, 0.9 ± 0.5 after the first week, 0.4 ± 0.4 after the first month and 0 after 90 days. No patient showed chronic pain. Overall satisfaction (VAS for surgery) was 8.3 ± 0.6. Conclusions: The use of self-adhesive meshes during the laparoscopic transabdominal preperitoneal approach in small- and medium-sized ventral or incisional hernias is safe and effective, with low post-operative pain, quick functional recovery and high overall satisfaction after surgery with no increase in recurrence in the short term. © 2016 Springer Science+Business Media New York Source


Berger M.,Institute of Biomedicine | Berger M.,Ludwig Maximilians University of Munich | Neth O.,Institute of Biomedicine | Ilmer M.,University of Texas Health Science Center at Houston | And 6 more authors.
Journal of Hepatology | Year: 2014

Background & Aims Multidrug resistance presents a major problem in hepatoblastoma (HB), and new anti-tumor strategies are desperately needed. The substance P (SP)/neurokinin-1 receptor (NK1R) complex has been discovered to be pivotal in the development of a variety of human cancers, and NK1R antagonists, such as the clinical drug aprepitant, are promising future anticancer agents. Yet, the role of the SP/NK1R complex as a potential anticancer target in HB is unknown. Methods Human HB cell lines HepT1, HepG2, and HuH6, human tumor samples from 17 children with HB as well as mice xenografted with human HB cell line HuH6 were analyzed regarding the SP/NK1R complex as a potential new anti-tumor target in HB. Results Therapeutic targeting with the NK1R antagonists aprepitant, L-733,060, and L-732,138 led to growth inhibition and apoptosis in HepT1, HepG2, and HuH6 cells in a dose-dependent manner. Intriguingly, HB cells predominantly expressed the truncated splice variant of NK1R. Human fibroblasts showed only dismal NK1R expression and were significantly more resistant. Stimulation of HB cells with SP, NK1R's natural ligand, caused increased growth rates and abrogated the anti-proliferative effect of NK1R antagonists. Expression analysis of 17 human HB samples confirmed the clinical relevance of NK1R. Most importantly, oral treatment of a HuH6 xenograft mouse model with 80 mg/kg/day aprepitant for 24 days resulted in a striking reduction of tumor growth, as evidenced by reduced tumor volume and weight, lowered tumor-specific alpha-fetoprotein (AFP) serum levels, and decreased number of Ki-67 positive cells. Furthermore, aprepitant treatment inhibited in vivo angiogenesis. Conclusions For the first time, we describe the NK1R in its truncated splice variant as a potent target in human HB and an inhibitory effect in vivo and in vitro by NK1R antagonists. Therefore, NK1R antagonists should be considered promising new candidates for innovative therapeutic strategies against HB. © 2014 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved. Source


Rosety-Rodriguez M.,University of Cadiz | Camacho A.,Juan Ramon Jimenez Hospital | Rosety I.,University of Cadiz | Fornieles G.,University of Cadiz | And 5 more authors.
Archives of Physical Medicine and Rehabilitation | Year: 2014

Objective To ascertain the effect of arm cranking exercise on improving plasma levels of inflammatory cytokines and adipokines in untrained adults with chronic spinal cord injury (SCI). Design Longitudinal study. Setting Community-based supervised intervention. Participants Men (N=17) with complete SCI at or below T5 volunteered for this study. Participants were randomly allocated to the intervention (n=9) or control group (n=8) using a concealed method. Intervention A 12-week arm cranking exercise program of 3 sessions per week consisted of warm-up (10-15min), arm crank (20-30min; increasing 2min and 30s every 3wk) at a moderate work intensity of 50% to 65% of heart rate reserve (starting at 50% and increasing 5% every 3wk), and cool-down (5-10min). Main Outcome Measures Plasma levels of leptin, adiponectin, plasminogen activator inhibitor-1, tumor necrosis factor-alpha, and interleukin-6 were determined. Furthermore, physical fitness (maximum oxygen consumption [V̇O 2max]) and body composition (anthropometric index, waist circumference, and body mass index) were also assessed. Results Plasma levels of leptin, tumor necrosis factor-alpha, and interleukin-6 were significantly decreased after the completion of the training program. Similarly, the anthropometric index and waist circumference were diminished too. A moderate correlation was found between leptin and the anthropometric index. Finally, V̇O2max was significantly increased, suggesting an improvement of physical fitness in the intervention group. No changes were found in the control group. Conclusions Arm cranking exercise improved low-grade systemic inflammation by decreasing plasma levels of inflammatory cytokines. Furthermore, it also reduced plasma leptin levels. Long-term, well-conducted studies are still required to determine whether these changes may improve clinical outcomes of adults with chronic SCI. © 2014 by the American Congress of Rehabilitation Medicine. Source


Rosety-Rodriguez M.,University of Cadiz | Fornieles G.,University of Cadiz | Rosety I.,University of Cadiz | Diaz A.J.,University of Cadiz | And 6 more authors.
Nutricion Hospitalaria | Year: 2013

Introduction: The various diagnostic classifications in the literature concur as regards the important role of abdominal obesity in the onset and progression of metabolic syndrome. Accordingly, this study was aimed at clarifying whether central obesity measurements assessed by dual X-ray absorptiometry (DXA) may predict metabolic syndrome in Spanish postmenopausal women. Material and methods: This historical cohort study included a total of 1326 postmenopausal women aged > 45 years old who had routinely undergone DXA to measure their bone mineral density between january 2006 and january 2011. The regions of interest (ROI) envisaged in our study by using DXA were the lumbar regions L1-L4 and L4-L5. At the same time, they underwent a complete medical examination including personal medical history assessment, biochemical blood analysis, blood pressure measurement and anthropometrical evaluation. Metabolic syndrome was diagnosed attending to the criteria established by National Cholesterol Education Program Adult Treatment Panel III (NECP-ATP-III). Results: During the observation period, 537 women, representing 40.5% of the total studied, met the diagnostic criteria for metabolic syndrome. L1-L4 and L4-L5 abdominal fat mass determinations were associated with the development of metabolic syndrome in all regression models tested, showing an increasing gradient from the lowest to highest quintile. Conclusion: Central adiposity measurements assessed by DXA, especially L1-L4 region of interest, could be considered a powerful predictor of metabolic syndrome in postmenopausal women. Source

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