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Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain

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World Journal of Gastroenterology 2005年第37期11卷 5770-5776页

作者： Ana Sánchez de Abajo Miguel de la Hoya Alicia Tosar Javier Godino Juan Manuel Fernández Jose Lopez Asenjo Beatriz Perez Villamil pedro Perez Segura Eduardo Diaz-rubio Trinidad Caldes Laboratorio de Oncología Molecular Hospital Clinico San Carlos Madrid Spain Servicio de Anatomía Patológica Hospital Clinico San Carlos Madrid Spain Servicio de Oncología Médica Hospital Clinico San Carlos Madrid Spain

AIM: To investigate the prevalence and penetrance of hMSH6 mutations in Spanish HNPCC families that was negative for mutation in hMLH1 or ***: We used PCR-based DGGE assay and direct Sequencing to screen for hMSH6 gene in 91 HNPCC ***: we have identified 10 families with germ-line mutations in the DNA sequence. These mutations included two intronic variation, three missense mutation, one nonsense mutation, and four silent mutations. Among the 10 germ-line mutations identified in the Spanish cohort,8 were novel, perhaps, suggesting different mutational spectra in the Spanish population. detailed pedigrees were constructed for the three families with a possible pathogenic hMSH6 mutation. The two silent mutations H388H and L758L, detected in a person affected of colorectal cancer at age 29, produce loss of the wild-type allele in the tumor sample. Immunohistochemical analysis showed that expression of MSH6 protein was lost only in the tumors from the carriers of V878A and Q263X ***: Altogether, our results indicate that disease-causing germ-line mutations of hMSH6 are very less frequent in Spanish HNPCC families.

关键词： HNPCC MMR hMSH6 MSI IHC SPANISH

Factors that affect heart rate variability following acute resistance exercise:A systematic review and meta-analysis

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Journal of Sport and Health Science 2022年第3期11卷 376-392页

作者： Sajith U.Marasingha-Arachchige JacoboÁ.rubio-Arias pedro E.Alcaraz Linda H.Chung UCAM Research Center for High Performance Sport Catholic University of MurciaMurcia 30107Spain LFE Research Group Department of Health and Human PerformanceFaculty of Physical Activity and Sport Science-INEFUniversidad Politécnica de MadridMadrid 28040Spain Faculty of Sport Catholic University of MurciaMurcia 30107Spain

Background:There is controversial evidence regarding the effect of acute resistance exercise(ARE) on heart rate variability(HRV) parameters,which indicates the activities of the cardiac autonomic nervous *** aim of this study was to perform a systematic review and meta-analysis of the literature on the effect of ARE on HRV parameters and identify its possible moderating ***:The PubMed-Medline,Web of Science,SPORTDiscus,and Cochrane Library databases were *** Preferred Reporting Items for Systematic Reviews and Meta-Analyses(PRISMA) declaration was followed,and the methodological quality of the studies was *** level of significance was set at p≤***-six studies met the inclusion *** effect analyses between pre-and post-test interventions demonstrated an increase in normalized units low frequency(p dence interval(95%CI):0.46-1.11) and low frequency/high frequency ratio(p decrease in standard deviation of the normal-to-normal(NN)interval(p <0.001;SMD=-0.58;95%CI:-0.85 to-0.30),root mean square of the successive differences(p <0.001;SMD=-1.01;95%CI:-1.29 to-0.74),and normalized units high frequency(p <0.001;SMD:-1.08;95%CI:-1.43 to-0.73) following ARE in healthy individuals range:15 ± 1 to 48 ± 2 years;mean ± SD).Results:There were differences between the subgroups in the number of sets used in an exercise(p=0.05) for root mean square of the successive differences,as well as for exercise intensity(p=0.01) and rest between sets(p=0.05) for normalized units high ***,there were differences between the subgroups in training volume for root mean square of the successive differences(p=0.01),normalized units high frequency(p=0.003) and normalized units low frequency(p=0.02).Conclusion:Overall,there was a withdrawal of cardiac parasympathetic and activation of cardiac sympathetic modulations following ARE,and th

关键词： Cardiac Parasympathetic Sympathetic

High prevalence of viable Mycobacterium avium subspecies paratuberculosis in Crohn's disease

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World Journal of Gastroenterology 2010年第36期16卷 4558-4563页

作者： Juan L Mendoza Amparo San-pedro Esther Culebras Raquel Cíes Carlos Taxonera Raquel Lana Elena Urcelay Fernando de la Torre Juan J Picazo Manuel Díaz-rubio department of Gastroenterology Hospital Clinico San Carlos28040 MadridSpain department of Clinical Microbiology Hospital Clinico San Carlos28040 MadridSpain department of Internal Medicine Hospital Clinico San Carlos28040 MadridSpain department of Immunology Hospital Clinico San Carlos28040 MadridSpain

AIM:To examine the detection rate of viable Mycobacterium avium subspecies paratuberculosis(MAP) in patients with inflammatory bowel disease [Crohn's disease(CD) and ulcerative colitis(UC)].METHODS:Thirty patients with CD(15 with at least one NOD2/CARD15 mutation),29 with UC,and 10 with no inflammatory bowel disease(IBD).were tested for MAP by polymerase chain reaction(specific IS900 fragment) and blood ***:MAP DNA was detected in all original blood samples and 8-wk blood cultures(CD,UC and non-IBD).Positive MAP DNA status was confirmed by dot blot *** 69 cultures were negative by acid-fast Ziehl-Neelsen *** MAP,in spheroplast form,was isolated from the 18-mo blood cultures of all 30 CD patients,one UC patient,and none of the non-IBD *** association was found between positive MAP cultures and use of immunosuppressive drugs or CDassociated single nucleotide ***:MAP is widely present in our area and MAP DNA can be recovered from the blood of CD,UC and non-IBD ***,MAP spheroplasts were only found in CD patients.

关键词： Mycobacterium avium subspecies paratuberculosis Crohn’s disease Ulcerative colitis Inflammatory bowel disease Polymerase chain reaction Genetic susceptibility

Effects of medium-and long-distance running on cardiac damage markers in amateur runners:a systematic review,meta-analysis,and metaregression

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Journal of Sport and Health Science 2021年第2期10卷 192-200页

作者： Jacobo A.rubio-Arias Luis Andreu Luis Manuel Martinez-Aranda Alejandro Martinez-Rodriguez pedro Manonelles Domingo J.Ramos-Campo Faculty of Sport Catholic University of San Antonio(UCAM)Murcia 30107Spain LFE Research Group Department of Health and Human PerformanceFaculty of Physical Activity and Sport Science-INEFUniversidad Politecnica de MadridMadrid 28040Spain International Chair of Sports Medicine Catholic University of San Antonio(UCAM)Murcia 30107Spain Neuroscience of Human Movement Research Group(Neuromove) Catholic University of San Antonio(UCAM)Murcia 30107Spain Faculty of Sciences University of AlicanteAlicante 03690Spain

Background:To finish an endurance race,athletes perform a vigorous effort that induces the release of cardiac damage *** are several factors that can affect the total number of these markers,so the aim of this review was to analyze the effect of endurance running races on cardiac damage markers and to identify the factors that modify the levels of segregation of these cardiac damage ***:A systematic search of PubMed,Web of Science,and the Cochrane Library databases was *** analysis included studies where the acute effects of running races on cardiac damage markers(troponin I and troponin T)were analyzed,assessing the levels of these markers before and after the ***:The effects of running races on troponin I(mean difference=0.0381 ng/mL)and troponin T(mean difference=0.0256 ng/mL)levels were *** ages(R^(2)=14.4%,p=0.033)and body mass indexes(R^(2)=14.5%,p=0.045)of the athletes had a significant interaction with troponin *** addition,gender,mean speed,time to finish the race,and type of race can affect the level of cardiac damage ***:Endurance running races induce the release of cardiac-damage markers that remain elevated for at least 24 h after the *** addition,young male athletes with high body mass indexes who perform races combining long duration and moderate intensity(i.e.,marathons)release the highest levels of cardiac damage *** should take into consideration these results in the diagnosis and treatment of patients admitted to the hospital days after finishing endurance running races.

关键词： Endurance races Troponin I Troponin T Ultra-endurance

Heart rate variability to assess ventilatory thresholds in professional basketball players

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Journal of Sport and Health Science 2017年第4期6卷 468-473页

作者： Domingo Jesús Ramos-Campo Jacobo A. rubio-Arias Vicente Avila-Gandia Cristian Marin-Pagan Antonio Luque pedro E. Alcaraz department of Physical Activity and Sport Science Faculty of Sports Catholic University ofMurcia Murcia 30107 Spain department of Physiology Catholic University ofMurcia Murcia 30}07 Spain UCAM Research Center for High Performance Sport Mureia 30107 Spain

Purpose: The aim of this study was to determine if heart rate variability(HRV) during incremental test could be used to estimate ventilatory threshold(VT) in professional basketball players, with sufficient precision to be used in their training. Furthermore, the second aim was to analyse the association between HRV and 3 methods of VT determination by gas ***: Twenty-four professional basketball players(age: 23.4 ± 4.9 years; height: 195.4 ± 9.8 cm; body mass: 92.2 ± 11.9 kg) performed an incremental running test to exhaustion. First ventilatory threshold(VT1) was determined by ventilatory equivalent(VE) and HRV and second ventilatory threshold(VT2) was determined by 3 methods of gases analysis(V-slope, VE and gas exchange ratio(R), and HRV). Pearson's coefficient(r) was used to detect differences between data and the strength of each relationship. The mean of absolute differences and Bland–Altman analysis were used to evaluate whether there was ***: The results showed no significant differences in HR and oxygen consumption(VO2) at VT1 between the 2 methods. Furthermore, no significant differences among the methods of gases analysis and HRV were observed in speed, HR, and VO2 at VT2. Moreover, VTs estimated using HRV and gas methods were significantly correlated. Correlation in HR values was higher between R and HRV(r = 0.96) and VE and HRV(r = 0.96) than V-slope and HRV(r = 0.90).Conclusion: These findings provide a practical, inexpensive approach for evaluating specific training loads when determining VT2 in basketball players. Therefore, HRV is an alternative method to determine VT2 without the application of expensive technology that limits its use to laboratories.

关键词： Anaerobic threshold Basketball Oxygen uptake Performance Training Ventilatory threshold

Terrorism and Human Smuggling in the U.S. Southwestern Border

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Psychology Research 2018年第8期8卷 388-396页

作者： Simon pedro Izcara Palacios Karla Lorena Andrade rubio Universidad Autonoma de Tamaulipas Ciudad Victoria Mexico

Constraint Analysis and Bladder Wall Low-Dose-Constraint Reduction in Five-Fraction Urethra-Sparing Prostate SBRT

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International Journal of Medical Physics, Clinical Engineering and Radiation Oncology 2021年第3期10卷 132-148页

作者： Alejandro Prado Inés Flores Ángel Montero Miguel Ángel de la Casa Leyre Alonso Jaime Martí pedro Fernández-Letón Carmen rubio Medical Physics and Radiation Protection department Hospital Universitario HM Sanchinarro HM Hospitales Madrid Spain Medical Physics and Radiation Protection department Hospital General de la Defensa Gómez Ulla Madrid Spain Radiation Oncology department Hospital Universitario HM Sanchinarro HM Hospitales Madrid Spain

Aim: To compare and analyze dose constraints and target coverage results and to reduce Bladder Wall (Bwall) V18.12 for prostate Stereotactic-Body Radiation Therapy (SBRT) when Seminal Vesicles (SSVV) are included or not. Several indicators based on intersection volumes are obtained to predict constraint fulfillment. Background: Due to prostate’s low alpha-beta ratio and the possibility of increasing the therapeutic ratio several moderate and extreme hypofractionation schemes have been proposed. The scheme selected was a fivefraction urethra-sparing prostate SBRT. Materials and Methods: 150 patients divided into two groups according to the inclusion of SSVV in PTV or not were analyzed. Histograms, average values, standard deviations and degrees of fulfillment were obtained for each constraint or goal and group. A possible reduction of the Bwall V18.12 was addressed by re-optimizing fifty randomly chosen patients. Predictors of constraint fulfilling were obtained by using the intersections of Bwall and Rectum Wall (Rwall) with the PTV. Results: Significant differences in Rwall V32.62 and V29 were obtained when evaluating the influence of SSVV inclusion. A reduction of 12% in the Bwall V18.12 constraint was achieved without compromising coverage and OARs doses. No dependence on the inclusion of SSVV was found. Conclusions: Statistically significant differences have been found in Rwall intermediate-dose constraint when SSVV was included. A reduction of 12% in the Bwall V18.12 constraint has been achieved without compromising the PTV coverage and the rest of OARs constraints. Constraint fulfillment predictors could be useful to evaluate the feasibility of prostate SBRT prior to the planning process for every single patient.

关键词： Prostate SBRT Urethra Sparing Bladder Wall Rectum Wall Seminal Vesicles

Pedigree analysis of 220 almond genotypes reveals two world mainstream breeding lines based on only three different cultivars

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Horticulture Research 2021年第1期8卷 72-82页

作者： Felipe Perez de los Cobos pedro J.Martinez-Garcia Agusti Romero Xavier Miarnau Iban Eduardo Werner Howad Mourad Mnejja Federico Dicenta Rafel Socias i Company Maria J.rubio-Cabetas Thomas M.Gradziel Michelle Wirthensohn Henri Duval Doron Holland Pere Arus Francisco J.Vargas Ignasi Batlle Institut de Recerca i Tecnologia Agroalimentaries(IRTA) Mas BoveCtra.Reus-El Morell Km 3843120 ConstantiTarragonaSpain Institut de Recerca i Tecnologia Agroalimentaries(IRTA) Centre de Recerca en Agrigenomica(CRAG)CSIC-IRTA-UAB-UB.Cerdanyola del Valles(Bellaterra)08193 BarcelonaSpain Centro de Edafologia y Biologia Aplicada del Segura Consejo Superior de Investigaciones Cientificas(CEBAS-CSIC)P.O.Box 16430100 EspinardoMurciaSpain Institut de Recerca i Tecnologia Agroalimentaries(IRTA) FruitcentrePCiTALGardeny ParkFruitcentre Building25003 LleidaSpain Centro de Investigacion y Tecnologia Agroalimentaria de Aragon(CITA) Avda.Montanana 93050059ZaragozaInstituto Agroalimentario de Aragon IA2(CITA-Universidad de Zaragoza)ZaragozaSpain University of California 1 Shields AvenueDavisCA 95616USA University of Adelaide Waite ResearchSchool of AgricultureFood and WinePMB 1Glen OsmondAdelaideSA 5064Australia Institut National de la Recherche Agronomique(INRA) Domain St.Maurice CS 6009484143 Montfavet CedexFrance Agricultural Research Organization Newe-Ya’ar Research CenterP.O.Box 1021Ramat Yishad 30095Israel

Loss of genetic variability is an increasing challenge in tree breeding programs due to the repeated use of a reduced number of founder ***,in almond,little is known about the genetic variability in current breeding stocks,although several cases of inbreeding depression have been *** gain insights into the genetic structure in modern breeding programs worldwide,marker-verified pedigree data of 220 almond cultivars and breeding selections were *** coefficients,pairwise relatedness,and genetic contribution were calculated for these *** results reveal two mainstream breeding lines based on three cultivars:“Tuono”,“Cristomorto”,and“Nonpareil”.descendants from“Tuono”or“Cristomorto”number 76(sharing 34 descendants),while“Nonpareil”has 71 *** mean inbreeding coefficient of the analyzed genotypes was 0.041,with 14 genotypes presenting a high inbreeding coefficient,over *** programs from France,the USA,and Spain showed inbreeding coefficients of 0.075,0.070,and 0.037,*** to their genetic contribution,modern cultivars from Israel,France,the USA,Spain,and Australia trace back to a maximum of six main founding *** the group of 65 genotypes carrying the S f allele for self-compatibility,the mean relatedness coefficient was 0.125,with“Tuono”as the main founding genotype(24.7%of total genetic contribution).The results broaden our understanding about the tendencies followed in almond breeding over the last 50 years and will have a large impact into breeding decision-making process *** current genetic variability is required in almond breeding programs to assure genetic gain and continuing breeding progress.

关键词： breeding cultivar founding

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球虫病引起的仔猪哺乳期腹泻

国外畜牧学（猪与禽） 2012年第4期32卷 17-19页

作者：陈琳 Ana Carvajal pedro rubio Nistal

了解猪等孢子球虫的生活周期对于了解球虫病的诊断方法、治疗手段和预防措施是非常重要的。在这个生活周期中，猪等孢子球虫有一个环境生活阶段饵口囊），在条件适当的情况下，卵囊的生活力可以保持长达一年，这一特性有利于该感染在产... 详细信息

了解猪等孢子球虫的生活周期对于了解球虫病的诊断方法、治疗手段和预防措施是非常重要的。在这个生活周期中，猪等孢子球虫有一个环境生活阶段饵口囊），在条件适当的情况下，卵囊的生活力可以保持长达一年，这一特性有利于该感染在产仔栏中的持续存在。

关键词：球虫病仔猪哺乳期腹泻生活周期诊断方法生活力产仔栏