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Multi-tissue transcriptomics of a unique monozygotic discordant twin case of severe progressive osseous heteroplasia

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Genes & Diseases 2024年第3期11卷 22-25页

作者： Alberto Gomez-Carballa Maria Jose Curras-Tuala Sara Pischedda Miriam Cebey-Lopez Jose Gomez-rial Irene rivero-Cale Jacobo Pardo-seco Xabier Bello Sandra Viz-Lasheras Antonio Justicia-Grande Julian Montoto-Louzao Alba Camino-Mera Isabel Ferreiros-Vidal Maximo Fraga Jose rAntunez rodolfo Gomez Federico Martinon-torres Antonio Salas Genetics Vaccines and Infections Research Group(GENVIP)Instituto de Investigacion Sanitaria de SantiagoSantiagode CompostelaGalicia 15706Spain Translational Pediatrics and Infectious Diseases Department of PediatricsHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Laboratorio de Inmunologia Servicio de Andlisis ClinicosHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Unidade de Xenetica Instituto de Ciencias Forenses(INCIFOR)Facultade de MedicinaUniversidade de Santiago de Compostelaand GenPoB Research GroupInstituto de Investigacion SanitariaHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Musculoskeletal Pathology Group Instituto de Investigacion Sanitaria de SantiagoServicio Galego de Saude(SERGAS)Santiago de CompostelaGalicia 15706Spain Department of Pathology Hospital Clinico Universitario de Santiago de Compostela(SERGAS)Galicia 15706Spain Unidad Integrada de BiobancosBiomodelos 3D y Modelos Animales IDIS(lnstituto de Investigacion Sanitaria de Santiagode Compostela)Galicia15706Spain Centro de Investigacion Biomedica en red de Enfermedades respiratorias(CIBEr-ES) MadridSpain

Progressive osseous heteroplasia(POH)is an ultra-rare autosomal dominant disabling disorder characterized by heterotopic ossification(HO).It is caused by heterozygous inactivating mutations in the GNAS(guanine nucleotide-binding protein alpha-stimulating activity polypeptide)***,the molecular mechanisms underlying HO remain poorly *** a treatment for POH is not yet available,the identification of the mechanisms driving POH in affected tissues using gene expression may be of great help to underestand the molecular basis of POH and develop new therapeutic approaches.

关键词： stimulating driving asi

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Secondary rectal linitis plastica caused by prostatic adenocarcinoma-magnetic resonance imaging findings and dissemination pathways:A case report

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World Journal of radiology 2024年第9期16卷 473-481页

作者： Andres Antonio Labra Giancarlo Schiappacasse rolando Alfonso Cocio Jorge Tomás torres Fernando Omar González Joaquin Alberto Cristi Marcela Schultz Department of radiology Facultad de Medicina Clínica Alemana-Universidad del DesarrolloSantiago 7650568Región MetropolitanaChile Department of Pathology Clínica Alemana de SantiagoSantiago 7650568Región MetropolitanaChile

BACKGrOUND Secondary rectal linitis plastica(rLP)from prostatic adenocarcinoma is a rare and poorly understood form of metastatic spread,characterized by a desmoplastic response and concentric rectal wall infiltration with mucosal *** complicates endoscopic diagnosis and can mimic gastrointestinal *** case series underscores the critical role of magnetic resonance imaging(MrI)in identifying the distinct imaging features of rLP and highlights the importance of considering this condition in the differential diagnosis of patients with a history of prostate *** SUMMArY Three patients with secondary rLP due to prostatic adenocarcinoma presented with varied clinical *** first patient,a 76-year-old man with advanced prostate cancer,had rectal pain and *** showed diffuse prostatic invasion and significant rectal wall thickening with a characteristic"target sign"*** second,a 57-year-old asymptomatic man with elevated prostatespecific antigen levels and a history of prostate cancer exhibited rectoprostatic angle involvement and rectal wall thickening on MrI,with positron emission tomography/computed tomography PSMA confirming the prostatic origin of the metastatic *** third patient,an 80-year-old post-radical prostatectomy,presented with refractory *** revealed a neoplastic mass infiltrating the rectal *** all cases,MrI consistently showed stratified thickening,concentric signal changes,restricted diffusion,and contrast enhancement,which were essential for diagnosing secondary *** confirmed the prostatic origin of the neoplastic involvement in the *** recognizing MrI findings of secondary rLP is essential for accurate diagnosis and management in prostate cancer patients.

关键词： rectal linitis plastica Prostatic adenocarcinoma Signet ring cell carcinoma Metastatic spread Magnetic resonance imaging Concentric wall infiltration Case report

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Noninvasive Ventilation Interfaces in the Treatment of Acute respiratory Insufficiency: A Critical review

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Open Journal of Emergency Medicine 2024年第3期12卷 95-103页

作者： Andréa Nóbrega Cirino Nogueira Chakira torres Lima renata dos Santos Vasconcelos Suzy Maria Montenegro Pontes Arnaldo Aires Peixoto Junior renan Magalhães Montenegro Junior Clinical research Unit Walter Cantdio University Hospital Federal University of Cear/EBSERH Fortaleza Brazil

Background: Noninvasive ventilation (NIV) is an important therapeutic modality for the treatment of acute respiratory failure (ArF). In this review, we critically analyze randomized controlled trials on the most used NIV interfaces in the treatments of ArF. Methods: The searches were conducted in the Medline, Lilacs, PubMed, Cochrane, and Pedro databases from June to November 2021. The inclusion criteria were randomized clinical trials (rCTs) published from 2016 to 2021 in Portuguese, Spanish, or English and involving adults (aged ≥ 18 years). The eligibility criteria for article selection were based on the PICO strategy: Population—Adults with ArF;Intervention—NIV Therapy;Comparison—Conventional oxygen therapy, high-flow nasal cannula (HFNC) oxygen therapy, or NIV;Outcome—improvement in ArF. The search for articles and the implementation of the inclusion criteria were independently conducted by two researchers. results: Seven scientific articles involving 574 adults with ArF due to various causes, such as chest trauma, decompensated heart failure, coronavirus disease 2019 (COVID-19), and postoperative period, among others, were included. The interfaces cited in the studies included an oronasal mask, nasal mask, full-face mask, and helmet. In addition, some favorable outcomes related to NIV were reported in the studies, such as a reduction in the rate of orotracheal intubation and shorter length of stay in the ICU. Conclusions: The most cited interfaces in the treatment of ArF were the oronasal mask and the helmet.

关键词： Noninvasive Ventilation respiratory Insufficiency respiration Artificial Continuous Positive Airway Pressure

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Association between Exposure to Metals during Pregnancy,Childhood Gut Microbiome,and risk of Intestinal Inflammation in Late Childhood

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Environment & Health 2024年第10期2卷 739-749页

作者： Vishal Midya Manasi Agrawal Jamil M.Lane Chris Gennings Leonid Tarassishin Libni A.torres-Olascoaga Joseph Eggers Jill K.Gregory Mellissa Picker Inga Peter Jeremiah J.Faith Manish Arora Martha M.Tellez-rojo robert O.Wright Jean-Frederic Colombel Shoshannah Eggers Department of Environmental Medicine and Climate Science Icahn School of Medicine at Mount SinaiNew York 10029-6574New YorkUnited States Division of Gastroenterology Icahn School of Medicine at Mount SinaiNew York 10029-6574New YorkUnited States Center for Molecular Prediction of Inflammatory Bowel Disease(PrEDICT) Department of Clinical MedicineAalborg UniversityCopenhagen 9220Denmark Department of Genetics and Genomic Sciences Icahn School of MedicineNew York 10029-6574New YorkUnited States Center for research on Nutrition and Health National Institute of Public HealthCuernavaca 62508Mexico Department of Immunology and Immunotherapy Icahn School of Medicine at Mount SinaiNew York 10029-6574New YorkUnited States Department of Epidemiology University of Iowa College of Public HealthIowa City 52242 IowaUnited States Instructional Technology Group Icahn School of Medicine at Mount SinaiNew York 10029-6574New YorkUnited States

Alterations to the gut microbiome and exposure to metals during pregnancy have been suggested to impact inflammatory bowel ***,how prenatal exposure to metals eventually results in long-term effects on the gut microbiome,leading to subclinical intestinal inflammation,particularly during late childhood,has not been *** is also unknown whether such an interactive effect drives a specific subgroup of children toward elevated susceptibility to intestinal *** used an amalgamation of machine-learning techniques with a regression-based framework to explore if children with distinct sets of gut microbes and certain patterns of exposure to metals during pregnancy(metal−microbial clique signature)had a higher likelihood of intestinal inflammation,measured based on fecal calprotectin(FC)in late *** obtained samples from a well-characterized longitudinal birth cohort from Mexico City(n=108),*** the second and third trimesters of pregnancy,11 metals were measured in whole *** microbial abundances and FC were measured in stool samples from children 9−11 years of *** FC was defined as having FC above 100μg/g of *** identified subgroups of children in whom microbial and metal−microbial clique signatures were associated with elevated FC(false discovery rate(FDr)rticular,we found two metal−microbial clique signatures significantly associated with elevated FC:(1)low cesium(Cs)and copper(Cu)in the third trimester and low relative abundance of Eubacterium ventriosum(Or[95%CI]:10.27[3.57,29.52],FDrrd trimester and high relative abundances of roseburia inulinivorans and ruminococcus torques(Or[95%CI]:7.21[1.81,28.77],FDrratory study demonstrates that children with specific gut microbes and specific exposure patterns to metals during pregnancy may have higher fecal calprotectin levels in late childhood,denoting an elevated risk of intestinal inflammation.

关键词： exposome metals machine learning microbiome environmental epidemiology intestinal inflammation

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Concordance among pulse wave velocity assessment methods: A network meta-analysis

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中华医学杂志(英文版) 2024年第17期137卷 2024 Aug 8页

作者： Cavero-redondo Iván Sequí-Domínguez Irene Saz-Lara Alicia Garcia-Klepzig Jose Luis Lucerón-Lucas-torres Maribel Martínez-García Irene álvarez-Bueno Celia Martínez-Vizcaíno Vicente CarVasCare research Group Facultad de Enfermería de Cuenca Universidad de Castilla-La Mancha Cuenca Spain Facultad de Ciencias de la Salud Universidad Autónoma de Chile Talca Chile Health and Social research Center Universidad de Castilla-La Mancha Cuenca Spain Internal Medicine Department San Carlos University Hospital Madrid Spain Universidad Politécnica y Artística del Paraguay Asunción Paraguay

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New aspects in celiac disease

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World Journal of Gastroenterology 2007年第8期13卷 1156-1161页

作者： MI torres MA López Casado A ríos Department of Experimental Biology University of JaénJaén 23071Spain Department of Gastroenterology Pediatrics. Hospital Virgen de las Nieves Granada Department Cell Biology. University of Granada Granada

Celiac disease (CD) is a common autoimmune disorder characterized by an immune response to ingested gluten and has a strong HLA association with HLA- DQ2 and HLA-DQ8 molecules, but human HLA-DQ risk factors do not explain the entire genetic susceptibility to gluten intolerance. CD is caused by the lack of immune tolerance (oral tolerance) to wheat gluten. In this sense, the expression of soluble HLA-G in CD is of special interest because the molecule plays an important role in the induction of immune tolerance. The enhanced expression of soluble HLA-G found in CD may be part of a mechanism to restore the gluten intolerance. In this editorial, we review recent progress in understanding CD in relation to its prevalence, diagnosis and possible mechanisms of pathogenesis.

关键词： Celiac disease Oral tolerance IL-10 TGF-beta Gluten intolerance

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risk Factors Associated with Unsuccessful Vaginal Birth after One Cesarean (VBAC-1) in Puerto rico

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Open Journal of Obstetrics and Gynecology 2024年第6期14卷 888-902页

作者： Irazú Guinan Marjorie Suárez Fabiola Angulo Luis Mayol Paula Suárez Lisandris Dominicci Nathalie Chang Saribel torres Antonio rodríguez raymond L. Tremblay Maricarmen Colón-Díaz Department of Physiology and Pathology San Juan Bautista School of Medicine Caguas USA

Background: Cesarean section (CS) has increased steadily over the last decade, with an estimated one-third of women delivering by cesarean section worldwide. Objective: Our study aimed to investigate the demographic and associated factors influencing vaginal birth after one cesarean (VBAC-1) success focusing on variables like pre-pregnancy BMI, diabetes, hypertension, education, and smoking. Study Design and Methods: In this retrospective study, we analyzed 285 cases (81 unsuccessful VBAC-1, 204 successful VBAC-1) from San Juan City Hospital (Puerto rico) between January 1, 2019, and December 31, 2020. We used odds ratios and model selection comparison to assess the impact of variables on successful VBAC-1, using a significance threshold of 95% CI. Model selection assessed binomial model combinations using a generalized linear approach to identify key risk factors. results: Unsuccessful VBAC-1 (a repeat cesarean), was associated with diabetes (Or: 0.376, p = 0.086), hypertension (Or: 0.23, p = 0.006), and university-educated women (Or: 1.372, p = 0.711). High school-educated women had an Or of 3.966 (p = 0.105), while overweight women were 0.481 times more likely to have unsuccessful VBAC-1 (p = 0.041). Significant associations were not found with obesity (Or: 0.574, p = 0.122), underweight/normal (Or: 1.01, p = 0.810), or smoking (Or: 1.227, p = 0.990). Conclusion: results revealed women with higher education levels, hypertension, or diabetes are less likely to have a successful VBAC-1. Understanding the complex interactions affecting these outcomes is aimed at establishing guidelines for healthcare professionals to conduct systematic risk/benefit assessments. This study lays a foundation for evidence-based practices and policies, offering initial insights into VBAC-1 success factors in Puerto rico.

关键词： Diabetes Hypertension Obesity Trial of Labor Vaginal Birth after Cesarean

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Colon Adenocarcinoma in a retrograde Intussusception: A Case report and Literature review

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Open Journal of Gastroenterology 2024年第5期14卷 153-160页

作者： Carlos Hernández Brito Pedro Arredondo ruiz Brenda Paola Sáenz Dávila Arsenio torres Delgado Luis Eduardo Méndez Turrubiates Luis Ángel Amezcua Toledo Omar Josué Herrera López Surgical Oncology Department Centro Oncol&#243gico Onkolid Veracruz Mexico Clinical Oncology Department Centro Oncol&#243gico Onkolid Veracruz Mexico General and Laparoscopic Surgery Corporativo M&#233dico-Quir&#250rgico Torres Veracruz Mexico radiation Oncology Department Centro Oncol&#243gico Onkolid Veracruz Mexico radiology Department Centro Oncol&#243gico Onkolid Veracruz Mexico Anatomical Pathology Department Centro Oncol&#243gico Onkolid Veracruz Mexico

Background: Intussusception is defined as a telescoping of a proximal gastrointestinal segment with its mesentery to a distal one, only 5% occur in adults and in colon the probability that it is caused by a malignant disease is up to 65%. Only 1% occurs in a retrograde manner, the rest occur in an anterograde manner. Aim: Describe the clinical presentation of an intussusception in the adult patient as well as its most frequent causes and possible complications that influence decision making for a definitive treatment. Case Presentation: A 66-year-old woman diagnosed with colon adenocarcinoma who underwent elective transverse colectomy and colonic anastomosis with an incidental finding of a transverse colon tumor in a retrograde intussusception was studied. Conclusion: In any adult patient with an intussusception especially in colon a neoplasia should be suspected and the affected segment should be resected without being reduced due to the risk of perforation and tumor dissemination.

关键词： Colon Cancer Colon Adenocarcinoma Colonic Intussusception Intussusception

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Secreted protein acidic and rich in cysteine(SPArC)induces epithelial-mesenchymal transition,enhancing migration and invasion,and is associated with high Gleason score in prostate cancer

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Asian Journal of Andrology 2019年第6期21卷 557-564页

作者： Fernanda Lopez-Moncada Maria Jose torres Enrique A Castellon Hector r Contreras Department of Basic and Clinic Oncology Faculty of Medic泊eUniversity of ChileSantiago 8389100Chile

Secreted protein acidic and rich in cysteine(SPArC)is a matricellular protein highly expressed in bone tissue that acts as achemoattractant factor promoting the arrival of prostate cancer(PCa)cells to the bone ***,the contribution of SPArCduring the early stages of tumor progression remains *** this study,we show that SPArC is highly expressed in PCa tissueswith a higher Gleason *** stable knockdown and overexpression of SPArC in PC3 and LNCaP cells,respectively,here wedem on strate that en doge nous SPArC induces the epithelial-mesenchymal tran sition(EMT),decreasing E-cadheri n and cytokeratin18 and increasing N-cadheri n and vime ***,SPArC in duces the expression of EMT regulatory tran scription factors Snailfamily transcriptional repressor 1(Snail),Snail family transcriptional repressor 2(Slug),and zinc finger E-box binding homeobox 1(Zeb1).In addition,SPArC knockdown in PC3 cells decreases migration and invasion in vitro,without modifying cell *** results indicate that SPArC might facilitate tumor progression by modifying the cellular phenotype in cancer cells.

关键词： epithelial-mesenchymal transition invasion migration prostate cancer secreted protein acidic and rich in cysteine(SPArC)

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Current view of the immunopathogenesis in inflammatory bowel disease and its implications for therapy

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World Journal of Gastroenterology 2008年第13期14卷 1972-1980页

作者： MI torres A ríos Department of Experimental Biology University of Jaén Jaén 23071 Spain Department of Cell Biology University of Granada Granada 18071 Spain

Although the aetiology of inflammatory bowel disease (IBD) remains unknown, the pathogenesis is gradually being unravelled, seeming to be the result of a combination of environmental, genetic, and immunological factors in which an uncontrolled immune response within the intestinal lumen leads to inflammation in genetically predisposed individuals. Multifactorial evidence suggests that a defect of innate immune response to microbial agents is involved in IBD. This editorial outlines the immunopathogenesis of IBD and their current and future therapy. We present IBD as a result of dysregulated mucosal response in the intestinal wall facilitated by defects in epithelial barrier function and the mucosal immune system with excessive production of cytokines growth factors, adhesion molecules, and reactive oxygen metabolites, resulting in tissue injury. Established and evolving therapies are discussed in the second part of this editorial and at the end of this section we review new therapies to modulate the immune system in patients with IBD.

关键词： Inflammatory bowel disease Ulcerativecolitis Crohn's disease Tolerance Cytokines Mucosalinflammation

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