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Influence of a nucleotide oligomerization domain 1 (NOD1) polymorphism and NOD2 mutant alleles on Crohn's disease phenotype

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World Journal of Gastroenterology 2007年第41期13卷 5446-5453页

作者： Elisabet Cantó Elena Ricart David Busquets David Monfort esther garcía-planella Dolors González Joaquim Balanzó José L Rodríguez-Sánchez Sílvia Vidal Department of Immunology Sant Pau Hospital & Research Inst.Sant Pau HospitalBarcelona 08025Spain Department of Gastroenterology CIBER-EHD.Clinic HospitalBarcelona-08025Spain Department of Digestive Pathology Sant Pau HospitalBarcelona 08025Spain

AIM： To examine genetic variation of nucleotide oligomerization domain 1 （NOD/） and NOD2, their respective influences on Crohn＇s disease phenotype and gene-gene interactions. METHODS：（ND1＋32656＊1） NOD1 polymorphism and SNPS, SNP12 and SNP13 of NOD2 were analyzed in 97 patients and 50 controls. NOD2 variants were determined by reaction restriction fragment length polymorphism analysis. NOD1 genotyping and NOD2 variant confirmation were performed by specific amplification and sequencing. RESULTS： The distribution of NOD1 polymorphism in patients was different from controls （P = 0.045） and not altered by existence of NOD2 mutations. In this cohort, 30.92% patients and 6% controls carried at least one NOD2 variant （P 〈 0.001） with R702W being the most frequent variant. Presence of at least one NOD2 mutation was inversely associated with colon involvement （9.09% with colon vs 36.4% with ileal or ileocolonic involvement, P = 0.04） and indicative of risk of penetrating disease （52.63% with penetrating vs 25.64% with non-penetrating or stricturing behavior, P = 0.02）. L1007finsC and double NOD2 mutation conferred the highest risk for severity of disease （26.3% with penetrating disease vs 3.8% with non-penetrating or stricturing behavior presented L1007finsC, P = 0.01 and 21.0% with penetrating disease vs 2.5% with non-penentrating or stricturing behavior carried double NOD2 mutation, P = 0.007）. Exclusion of patients with NOD2 mutations from phenotype/NODl-genotype analysis revealed higher prevalence of ＊1＊1 genotype in groups of younger age at onset and colonic location.CONCLUSION： This study suggests population differences in the inheritance of risk NOD1 polymorphism and NOD2 mutations. Although no interaction between NOD1-NOD2 was noticed, a relationship between disease location and Nod-like receptor molecules was established.

关键词： Crohn's disease Nucleotide oligomerization domain 1 Nucleotide oligomerization domain 2

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Effectiveness of infliximab after adalimumab failure in Crohn's disease

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World Journal of Gastroenterology 2012年第37期18卷 5219-5224页

作者： María Chaparro Montserrat Andreu Manuel Barreiro-de Acosta esther garcía-planella Elena Ricart Eugeni Domènech María Esteve Olga Merino Pilar Nos Mireia Pealva Javier P Gisbert Department of Gastroenterology Hospital Universitario de La PrincesaInstituto de Investigación Princesa(IP)and Centro de Investigación Biomédica en Red de Enfermedades Hepáticasy Digestivas(CIBEREHD)28006 MadridSpain Americio 17 portal E 2℃28021 Madrid Department of Gastroenterology Hospital del Mar Department of Gastroenterology Hospital Clínico Universitario de Santiago Department of Gastroenterology Hospital Santa Creui Sant Pau Department of Gastroenterology Hospital ClínicBarcelonaand Centro de Investigación Biomédica en Red de Enfermedades Hepáticasy Digestivas Department of Gastroenterology Hospital Germans Triasi Pujol and Centro de Investigación Biomédica en Red de Enfermedades Hepáticasy Digestivas(CIBEREHD) Department of Gastroenterology Hospital Mutua de Terrassa Department of Gastroenterology Hospital de Cruces Department of Gastroenterology Hospital Universitario La Fe and Centro de Investigación Biomédica en Red de Enfermedades Hepáticasy Digestivas(CIBEREHD) Department of Gastroenterology Hospital de Bellvitge Department of Gastroenterology Hospital Universitario de La PrincesaInstituto de Investigación Princesa(IP)and Centro de Investigación Biomédica en Red de Enfermedades Hepáticasy Digestivas(CIBEREHD)

AIM:To evaluate the effectiveness of infliximab as a second-line therapy in Crohn's disease patients after adalimumab failure. METHODS:A historical cohort study in a community-based gastroenterology practice evaluated Crohn's disease patients treated with infliximab (induction plus maintenance) after adalimumab failure. Patients were identified using a large Spanish database (ENEIDA). RESULTS:We included 15 Crohn's disease patients who received infliximab after adalimumab failure. Five patients discontinued adalimumab due to loss of response, 3 due to adverse events and 7 due to partial response. After infliximab therapy was started, all patients who had interrupted adalimumab due to loss of efficacy regained response. All patients who discontinued adalimumab due to adverse events responded to infliximab and maintained this response; one of these patients had an uneventful course on infliximab, but 2 developed adverse events. None of the 7 patients who interrupted adalimumab due to partial response reached remission with infliximab. CONCLUSION:Switching from adalimumab to infliximab may be useful in patients who develop adverse effects or loss of response, however, the benefit of infliximab in primary nonresponders was not established.

关键词： Adalimumab Biologics Crohn's disease In-fliximab Switch

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Resilience to structural and molecular changes in excitatory synapses in the hippocampus contributes to cognitive function recovery in Tg2576 mice

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Neural Regeneration Research 2024年第9期19卷 2068-2074页

作者： Carolina Aguado Sara Badesso JoséMartínez-Hernández Alejandro Martín-Belmonte Rocío Alfaro-Ruiz Miriam Fernández Ana esther Moreno-Martínez Mar Cuadrado-Tejedor Ana garcía-Osta Rafael Luján Synaptic Structure Laboratory Instituto de Investigación en Discapacidades Neurológicas(IDINE)Department of Medical SciencesFacultad de MedicinaUniversidad de Castilla-La ManchaCampus BiosanitarioAlbaceteSpain Gene Therapy for Neurological Disease Program Center for Applied Medical Research(CIMA)University of NavarraInstituto de Investigación Sanitaria de Navarra(IdiSNA)PamplonaSpain Pharmacology Unit Department of Pathology and Experimental TherapeuticsFaculty of Medicine and Health SciencesInstitute of NeurosciencesUniversity of BarcelonaBarcelonaSpain Neuropharmacology and Pain Group Neuroscience ProgramInstitut d’InvestigacióBiomèdica de BellvitgeIDIBELLL’Hospitalet de LlobregatSpain Department of Pathology Anatomy and PhysiologySchool of MedicineUniversity of NavarraPamplonaSpain UniversitéGrenoble Alpes Grenoble Institut des NeurosciencesGrenobleFrance

Plaques of amyloid-β(Aβ)and neurofibrillary tangles are the main pathological characteristics of Alzheimer’s disease(AD).However,some older adult people with AD pathological hallmarks can retain cognitive *** the factors that lead to this cognitive resilience to AD offers promising prospects for identifying new therapeutic *** hypothesis focuses on the contribution of resilience to changes in excitatory synapses at the structural and molecular levels,which may underlie healthy cognitive performance in aged AD *** the Morris Water Maze test,we selected resilient(asymptomatic)and cognitively impaired aged Tg2576 *** the enzyme-linked immunosorbent assay showed similar levels of Aβ42 in both experimental groups,western blot analysis revealed differences in tau pathology in the pre-synaptic supernatant *** further investigate the density of synapses in the hippocampus of 16-18 month-old Tg2576 mice,we employed stereological and electron microscopic *** findings indicated a decrease in the density of excitatory synapses in the stratum radiatum of the hippocampal CA1 in cognitively impaired Tg2576 mice compared with age-matched resilient Tg2576 and non-transgenic ***,through quantitative immunoelectron microscopy in the hippocampus of impaired and resilient Tg2576 transgenic AD mice,we uncovered differences in the subcellular localization of glutamate ***,the density of GluA1,GluA2/3,and mGlu5 in spines and dendritic shafts of CA1 pyramidal cells in impaired Tg2576 mice was significantly reduced compared with age-matched resilient Tg2576 and non-transgenic ***,the density of GluA2/3 in resilient Tg2576 mice was significantly increased in spines but not in dendritic shafts compared with impaired Tg2576 and non-transgenic *** subcellular findings strongly support the hypothesis that dendritic spine plasticity and synaptic machinery in the hippocampus play cr

关键词： aging Alzheimer´s disease cognitive hippocampus immunoelectron microscopy resilience synapse

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Challenges and prospects in bridging precision medicine and artificial intelligence in genomic psychiatric treatment

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World Journal of Psychiatry 2024年第8期14卷 1148-1164页

作者： Uchenna esther Okpete Haewon Byeon Department of Digital Anti-aging Healthcare(BK21) Inje UniversityGimhae 50834South Korea

Precision medicine is transforming psychiatric treatment by tailoring personalized healthcare interventions based on clinical,genetic,environmental,and lifestyle factors to optimize medication *** study investigates how artificial intelligence(AI)and machine learning(ML)can address key challenges in integrating pharmacogenomics(PGx)into psychiatric *** this integration,AI analyzes vast genomic datasets to identify genetic markers linked to psychiatric ***-driven models integrating genomic,clinical,and demographic data demonstrated high accuracy in predicting treatment outcomes for major depressive disorder and bipolar *** study also examines the pressing challenges and provides strategic directions for integrating AI and ML in genomic psychiatry,highlighting the importance of ethical considerations and the need for personalized *** implementation of AI-driven clinical decision support systems within electronic health records is crucial for translating PGx into routine psychiatric *** research should focus on developing enhanced AI-driven predictive models,privacy-preserving data exchange,and robust informatics systems to optimize patient outcomes and advance precision medicine in psychiatry.

关键词： Precision medicine Psychiatric treatment Genomic data Machine learning Deep learning Clinical decision making Data privacy Review

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Loculated pericardial hematoma diagnosed with point-of-care ultrasound

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World Journal of Emergency Medicine 2024年第3期15卷 241-242页

作者： Joaquín Valle Alonso esther Montoro Leandro Noblia Emergency Department Royal Bournemouth HospitalBournemouth 14450UK Emergency Department Hospital Santa LuciaCartagena 30202Spain

Pericardial hematoma is a rare but potentially lifethreatening consequence following cardiac surgery that requires prompt recognition and *** can present with symptoms such as chest pain,dyspnea,tachycardia,and hypotension,which may mimic other post-operative *** pericardial hematoma compressing the atria might be difficult to *** and hematoma are more common in patients receiving early anticoagulant therapy.A focused cardiac ultrasound (Fo CUS) plays a pivotal role in the diagnosis,revealing the presence of pericardial effusion and signs of cardiac *** aim of this report was to provide a prompt diagnosis of loculated pericardial hematoma via Fo CUS in the emergency department (ED).

关键词： hematoma diagnosis cardiac

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Interindividual Age-Independent Differences in Human CX43 Impact Ventricular Arrhythmic Risk

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Research 2024年第3期6卷 417-432页

作者： Laura garcía-Mendívil María Pérez-Zabalza Antoni Oliver-Gelabert JoséMaría Vallejo-Gil Javier Fañanás-Mastral Manuel Vázquez-Sancho Javier AndréBellido-Morales Alexánder Sebastián Vaca-Núñez Carlos Ballester-Cuenca Emiliano Diez Laura Ordovás esther Pueyo Biomedical Signal Interpretation and Computational Simulation group(BSICoS) Aragón Institute of Engineering ResearchUniversity of ZaragozaZaragoza 50018Spain BSICoS Instituto de Investigación Sanitaria Aragón(IISA)Zaragoza 50018Spain Centro Universitario de la Defensa(CUD) Zaragoza 50090Spain. Department of Cardiovascular Surgery University Hospital Miguel ServetZaragoza 50009Spain. Institute of Experimental Medicine and Biology of Cuyo(IMBECU) CONICETMendoza 5500Argentina. Fundación Agencia Aragonesa para la Investigación y el Desarrollo(ARAID) Zaragoza 50018Spain. Biomedical Research Networking Center in Bioengineering Biomaterials and Nanomedicine(CIBER-BBN)Zaragoza 50018Spain.

Connexin 43 (CX43) is one of the major components of gap junctions, the structures responsible for the intercellular communication and transmission of the electrical impulse in the left ventricle. There is limited information on the histological changes of CX43 with age and their effect on electrophysiology, especially in humans. Here, we analyzed left ventricular biopsies from living donors starting at midlife to characterize age-related CX43 remodeling. We assessed its quantity, degree of lateralization, and spatial heterogeneity together with fibrotic deposition. We observed no significant age-related remodeling of CX43. Only spatial heterogeneity increased slightly with age, and this increase was better explained by biological age than by chronological age. Importantly, we found that CX43 features varied considerably among individuals in our population with no relevant relationship to age or fibrosis content, in contrast to animal species. We used our experimental results to feed computational models of human ventricular electrophysiology and to assess the effects of interindividual differences in specific features of CX43 and fibrosis on conduction velocity, action potential duration, and arrhythmogenicity. We found that larger amounts of fibrosis were associated with the highest arrhythmic risk, with this risk being increased when fibrosis deposition was combined with a reduction in CX43 amount and/or with an increase in CX43 spatial heterogeneity. These mechanisms underlying high arrhythmic risk in some individuals were not associated with age in our study population. In conclusion, our data rule out CX43 remodeling as an age-related arrhythmic substrate in the population beyond midlife, but highlight its potential as a proarrhythmic factor at the individual level, especially when combined with increased fibrosis.

关键词： CX43 rhythm Independent

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Are school uniforms associated with gender inequalities in physical activity? A pooled analysis of population-level data from 135 countries/regions

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Journal of Sport and Health Science 2024年第4期13卷 590-598页

作者： Mairead Ryan Luiza I.C.Ricardo Nicole Nathan Riikka Hofmann esther van Sluijs Medical Research Council Epidemiology Unit University of CambridgeCambridge CB20QQUK Faculty of Education University of CambridgeCambridge CB28PQUK Hunter New England Population Health WallsendNSW 2287Australia School of Medicine and Public Health College of HealthMedicine and WellbeingUniversity of NewcastleCallaghanNSW 2308Australia Hunter Medical Research Institute New Lambton HeightsNSW 2305Australia National Centre of Implementation Science University of NewcastleCallaghanNSW 2308Australia

Purpose:It is aimed to assess whether school uniforms are associated with population-level gender inequalities in physical activity,and whether associations differ by school level,country/region income,and assessment ***:An ecological study design was *** collected data about global uniform practices using an online *** searched for country/region-level estimates of school-aged youth meeting physical activity guidelines from international surveillance *** selection was conducted in duplicate using a systematic process,and a random sample of all data was checked to ensure extraction and pooling processes were *** calculated absolute and relative gender inequalities in physical activity for each *** regression examined associations between country/region-level uniform practices(binary yes/no exposure variable) and country/region-level gender inequalities in physical activity guideline compliance(absolute and relative inequalities).We investigated moderation by school level,stratified analyses by income group,and repeated primary analyses using device-measured ***:Pooling data from 135 countries/regions(n=1,089,852),we found no association between population-level uniform practices and gender inequalities in physical activity across all ages(absolute:β=-0.2;95% confidence interval(95%CI):-1.7 to 1.3,p=0.74;relative:β=0.1;95%CI:-0.1 to 0.2,p=0.51).Subgroup analysis suggested a positive association in primary school settings(absolute:β=4.3;95%CI:-0.0 to 8.6,p=0.05).Among high-income countries,absolute inequalities were significantly greater in countries/regions with uniform practices(N=37) compared to those without(N=48)(9.1(SD=3.6) vs.7.8 percentage points(SD=4.3)).Repeating analyses using device-measured data(n=32,130;N=24) did not alter our primary *** initial descriptive statistics,we found that in countries/regions where a maj ority of schools(>50%) reportedly use uniforms,there was lower compli

关键词： School policy Clothing Child Adolescent Accelerometer

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Contraceptive behaviors and awareness in an urban slum community of south India

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Asian pacific Journal of Reproduction 2024年第4期13卷 160-168页

作者： Monica Albert Sekhar Shanthi Edward Angeline Grace Sushmitha G Shirley esther Priscilla Department of Community Medicine Sree Balaji Medical College and Hospital(SBMCH)ChennaiIndia

Objective:To assess the factors associated with knowledge,attitude and behavior of contraception use among urban slum population in ***:A cross-sectional study was conducted in the urban slum of Anakaputhur,*** couples between ages of 19-49 years and living in slum areas were taken up for the study by simple random *** women,postnatal and postmenopausal women were excluded from the *** collection was done using a pretested structured questionnaire focusing on details regarding contraception knowledge,attitude,and *** analysis was done using IBM SPSS version *** test like Chi square and odds ratio(OR)were used to identify association between knowledge,attitude,and behavior of contraception with the associated variables and enter method of logistic regression analysis was ***:Out of the 360 respondents,228 were females,with a mean age of(34±5)*** 43%demonstrated adequate knowledge of contraception use,and 91%were aware of at least one contraceptive ***,72%exhibited a positive attitude towards contraceptive ***,43%(155 individuals)did not utilize any contraceptive *** contraceptive users,intrauterine devices were the most commonly adopted,followed by barrier methods and female *** was significant association between knowledge of contraception and education(aOR 7.29,95%CI 2.93-18.10,P<0.05),age(aOR 2.04,95%CI 1.19-3.50,P<0.05)and socioeconomic class(aOR 3.66,95%CI 1.71-7.85,P<0.05;aOR 3.97,95%CI 2.12-7.49,P<0.05).Regarding attitude towards contraception use,education(aOR 8.54,95%CI 2.35-31.03,P<0.05),sex(aOR 0.15,95%CI 0.06-0.37,P<0.05),age(aOR 0.53,95%CI 0.28-0.99,P<0.05),socio-economic class(aOR 4.42,95%CI 1.97-9.92,P<0.05;aOR 9.83,95%CI 3.63-26.58,P<0.05)and number of children(aOR 10.04,95%CI 4.26-23.66,P<0.05)were the variables that had a significant ***:These findings underscore the imperative for enhanced d

关键词： Family planning Unmet need Sterilization Knowledge Practice Urban slum

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Lifestyles of Older Adults in Castilla-La Mancha(Spain):Influence of Sex,Age,and Habitat

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Fudan Journal of the Humanities and Social Sciences 2024年第2期17卷 313-335页

作者： esther Portal Martínez Juan Lirio Castro David Alonso González JoséLuis Gómez Ramos University of Castilla-La Mancha Talavera de la ReinaSpain Complutense University MadridSpain

This paper presents the quantitative research results of a comprehensive study titled“Current Profle of Older Adults in Castilla-La Mancha(Spain).”The study aims to understand and describe the characteristics of individuals aged 65 and above within this autonomous region,with a focus on the variables of sex,age,and habitat.A cross-sectional approach was employed,utilizing quantitative methods to collect *** gather information,a customized questionnaire was developed to address the study objectives,covering various aspects such as sociodemographic factors,living conditions,leisure activities,social participation,and cultural *** survey was conducted via telephone,ensuring representation by employing gender quotas,age-group stratifcation,and considerations for habitat size.A representative sample of 1,065 participants was included in the *** fndings reveal a degree of homogeneity in the lifestyles of older adults,with discernible variations infuenced by factors such as sex,habitat,and *** results shed light on the diverse habits and experiences of older adults,emphasizing the signifcance of habitat conditions,social participation,and the aging process.

关键词： Lifestyle habits Older adults Habitat conditions Social participation Aging experience

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The Effects of Acupressure on Vomiting, Stress, and Anxiety in Chinese Pregnant Women with Hyperemesis Gravidarum

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Journal of Clinical and Nursing Research 2024年第5期8卷 369-383页

作者： Wenyuan Jiang esther O.Dela Cruz Institute of Health Sciences and Nursing Far Eastern UniversityNicanor Reyes StreetSampalocManila 1015Philippines

Objective:To investigate the role of acupressure therapy in helping pregnant women with HG reduce the frequency or severity of vomiting and relieve stress and ***:A quantitative study with a quasi-experimental design and non-equivalent group design was ***-six valid data points were obtained from pregnant mothers diagnosed with HG in a general hospital in Linyi *** pregnant women received either acupressure(n=33)or general therapeutic care(n=33).They completed standardized questionnaires designed to assess vomiting,anxiety,and stress ***:Data showed no differences between the experimental and control groups before the *** the intervention,there were significant differences in anxiety(P≤0.05)and stress(P≤0.05)scores between the two ***,there was no significant difference in vomiting scores(P>0.05)between the two groups after the *** anxiety and stress scores of the experimental group were significantly lower than those of the control group post-intervention,while the vomiting scores of the two groups were ***:The findings suggest that acupressure significantly reduces anxiety and stress in pregnant women with hyperemesis gravidarum(HG)and also helps reduce *** presents a viable clinical option for pregnant women seeking relief from HG symptoms.

关键词： Acupressure Anxiety Stress Nausea Vomiting

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