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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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Analytic Regularity for a Singularly Perturbed Reaction-Convection-Diffusion Boundary Value Problem with Two Small Parameters

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Communications in Mathematical Research 2024年第2期40卷 125-153页

作者： irene Sykopetritou Christos Xenophontos Department of Mathematics and Statistics University of CyprusPo Box 20537Nicosia 1678Cyprus.

We consider a second order,two-point,singularly perturbed boundary value problem,of reaction-convection-diffusion type with two small parameters,and we obtain analytic regularity results for its solution,under the assumption of analytic input ***,we establish classical differentiability bounds that are explicit in the order of differentiation and the singular perturbation ***,for small values of these parameters we show that the solution can be decomposed into a smooth part,boundary layers at the two endpoints,and a negligible *** estimates are obtained for each component of the solution,which again are explicit in the differentiation order and the singular perturbation parameters.

关键词： Singularly perturbed problem reaction-convection-diffusion boundary layers analytic regularity.

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Fungal infections in immunocompromised critically ill patients

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Journal of Intensive Medicine 2024年第3期4卷 299-306页

作者： JoséGarnacho-Montero irene Barrero-García Cristina León-Moya Unidad Clínica de Cuidados Intensivos Hospital Universitario Virgen MacarenaSevillaSpain

Diverse pathogenic fungi can produce severe infections in immunocompromised patients, thereby justifying intensive care unit (ICU) admissions. In some cases, the infections can develop in immunocompromised patients who were previously admitted to the ICU. Aspergillus spp., Pneumocystis jirovecii, Candida spp., and Mucorales are the fungi that are most frequently involved in these infections. Diagnosis continues to be challenging because symptoms and signs are unspecific. Herein, we provide an in-depth review about the diagnosis, with emphasis on recent advances, and treatment of these invasive fungal infections in the ICU setting.

关键词： Invasive aspergillosis Immunocompromised patient Critically ill patient Antifungal Invasive candidiasis Pneumocystis jirovecii

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Quantitative assessment of self-management in patients with nonalcoholic fatty liver disease: An unmet clinical need

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World Journal of Gastroenterology 2024年第25期30卷 3143-3146页

作者： Raffaele Borriello Giorgio Esposto irene Mignini Antonio Gasbarrini Maria Assunta Zocco CEMAD Digestive Disease Center Fondazione Policlinico Universitario A.Gemelli IRCCSCatholic University of RomeRome 00168Italy

In this editorial we comment on the article titled“Establishment and validation of an adherence prediction system for lifestyle interventions in non-alcoholic fatty liver disease”by Zeng et al published in a recent issue of the World Journal of ***-alcoholic fatty liver disease(NAFLD)represents one of the current challenges in hepatology and public health,due to its continuous growing prevalence and the rising incidence of NAFLD-related fibrosis,non-alcoholic steatohepatitis and *** only effective therapeutic strategy for this dis-ease is represented by encouraging patients to improve their lifestyle through the modification of dietary intake and increased physical exercise,but the effective application of such modifications is often limited by various factors such as lack of information,psychological barriers or poor social *** poor adherence to a healthy lifestyle can be decisive in determining the clinical outcome,in daily practice there is a lack of quantitative instruments aimed at identifying patients with the lowest adherence to lifestyle changes and higher risk of disease progre-ssion in the course of *** this article,Zeng et al propose a quantitative scale to assess the grade of adherence of patients with NAFLD to hea-lthy lifestyle intervention,called the Exercise and Diet Adherence Scale(EDAS).This scale,consisting of 33 items divided into 6 dimensions which relates to six subjective aspects in the self-management of NAFLD,has shown a good correlation with the identification of the sub-cohort of patients with the highest reduction in caloric intake,increase in physical exercise,probability of a reduction in liver stiffness measurement and alanine aminotransferase *** cor-relation among clinical outcomes and specific dimensions of this scale also highlights the pivotal role of a good and confidential doctor-patient relationship and of an effective *** is an urgent need for practical and e

关键词： Non-alcoholic fatty liver disease Non-alcoholic steatohepatitis Liver cirrhosis Metabolic associated fatty liver disease Metabolic associated steatohepatitis Insulin resistance Self-management Self-management measurement Patient education

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Targeted NGS analysis reveals a complex genetic background of idiopathic erythrocytosis in a large Venetian family

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Genes & Diseases 2024年第2期11卷 561-563页

作者： Bertozzi irene Benetti Andrea Regazzo Daniela Polese Francesca Biagetti Giacomo Ceolotto Giulio Randi Maria Luigia First Medical Clinic University of Padua Department of Medicine – DIMEDVia Giustiniani 2Padova 35123Italy Transfusion Medicine Department Ospedale dell'Angelo - Venezia MestreVia Paccagnella 1Venice 30174Italy Emergency Medicine University of Padua Department of Medicine – DIMEDVia Giustiniani 2Padova 35123Italy

Absolute erythrocytosis,due to an increased production of red blood cells,becomes manifest with hemoglobin(Hb)levels above 165 or 160 g/L or with a hematocrit(HCT)above 51%and 48%in males and females,respectively.1 A minority of patients have polycythemia vera(PV);acquired secondary erythrocytosis frequently occurs due to appropriate or inappropriate erythropoietin(EPO)excess,while congenital secondary erythrocytosis may derive from genetic defects causing tissue *** erythrocytosis occurs in patients with genetic mutations of the oxygen-sensing pathway(VHL,PHD2,_HIF-1-alpha)or the erythropoietin receptor(EPOR)genes.2 Recently,HFE gene variants have been described in sporadic erythrocytoses.3 In a high proportion(about 70%)of patients with erythrocytosis,a specific etiology remains elusive despite extensive testing,and the diagnosis of idiopathic erythrocytosis(IE)is ruled out.

关键词： diagnosis patients congenital

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Environmental drivers of long-term variations in the abundance of the red hocicudo mouse (Oxymycterus rufus) in Pampas agroecosystems

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Integrative Zoology 2024年第1期19卷 37-51页

作者： Laura Mariel CALFAYAN Regino CAVIA Jimena FRASCHINA Juan Santiago GUIDOBONO irene Laura GOROSITO María BUSCH Laboratorio de Ecología de Poblaciones Departamento de EcologíaGenética y EvoluciónFacultad de Ciencias Exactas y NaturalesUniversidad de Buenos Aires and Instituto de EcologíaGenética y Evolución de Buenos Aires(IEGEBA)Buenos AiresArgentina

During the 20th century,there has been an ongoing agricultural expansion and global warming,two of the main determinants influencing biodiversity changes in *** red hocicudo mouse(Oxymycterus rufus)inhabits subtropical grasslands and riparian habitats and has increased its abundance in recent years in central Argentina *** paper describes the long-term temporal changes in *** abundance in Exaltación de la Cruz department,Buenos Aires province,Argentina,in relation to weatherfluctuations and landscape features,as well as analyzes the spatio-temporal structure of captures of *** used generalized liner models,semi-variograms,the Mantel test,and autocorrelation functions for the analysis of rodent data obtained from trappings conducted between 1984 and *** showed an increase in abundance across the years of study,with its distribution depending on landscape features,such as habitat types and the distance *** rates showed a spatio-temporal aggregation,suggesting expansion from previously occupied *** was more abundant at lower minimum temperatures in summer,higher precipitation in spring and summer,and lower precip-itations in *** conditions affected *** abundance,but there was local variation that differed from global patterns of climate change.

关键词： agroecosystems climate change linear habitats Oxymycterus rufus rodent

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DER SPATIAL TURN IN DEN KLASSISCHEN ALTERTUMSWISSENSCHAFTEN(UND SPEZIELL IN DER EPIGRAPHIK)

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Journal of Ancient Civilizations 2024年第1期39卷 99-121,125页

作者： irene Berti Pädagogische Hochschule Heidelberg

Since the 1990s the so-called spatial turn has brought back space and topography into the discussion within historical studies,particular ancient *** survey reviews current trends and developments within the field and offers some perspectives on possible future developments related to space,material,objects,their agency,and frames.

关键词： agency frames material objects space spatial turn topography

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Shear-wave elastography to predict hepatocellular carcinoma after hepatitis C virus eradication:A systematic review and meta-analysis

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World Journal of Gastroenterology 2024年第10期30卷 1450-1460页

作者： Giorgio Esposto Paolo Santini Linda Galasso irene Mignini Maria Elena Ainora Antonio Gasbarrini Maria Assunta Zocco CEMAD Digestive Disease Center Fondazione Policlinico Universitario“A.Gemelli”IRCCSCatholic University of RomeRome 00168Italy Fondazione Policlinico Universitario Agostino Gemelli IRCCS Fondazione Policlinico Universitario Agostino Gemelli IRCCS-UniversitàCattolica del Sacro CuoreRome 00168Italy Medicina Interna e Gastroenterologia CEMAD Digestive Disease CenterUniversitàCattolica del Sacro CuoreFondazione Policlinico Universitario A Gemelli IRCCSRome 00168Italy

BACKGROUND Direct-acting antiviral agents(DAAs)are highly effective treatment for chronic hepatitis C(CHC)with a significant rate of sustained virologic response(SVR).The achievement of SVR is crucial to prevent additional liver damage and slow down fibrosis *** assessment of fibrosis degree can be performed with transient elastography,magnetic resonance elastography or shear-wave elastography(SWE).Liver elastography could function as a predictor for hepato-cellular carcinoma(HCC)in CHC patients treated with *** To explore the predictive value of SWE for HCC development after complete clearance of hepatitis C virus(HCV).METHODS A comprehensive literature search of clinical studies was performed to identify the ability of SWE to predict HCC occurrence after HCV *** accordance with the study protocol,a qualitative and quantitative analysis of the evidence was *** At baseline and after 12 wk of follow-up,a trend was shown towards greater liver stiffness(LS)in those who go on to develop HCC compared to those who do not[baseline LS standardized mean difference(SMD):1.15,95%confidence interval(95%CI):020-2.50;LS SMD after 12 wk:0.83,95%CI:0.33-1.98].The absence of a statistically significant difference between the mean LS in those who developed HCC or not may be related to the inability to correct for confounding factors and the absence of raw source *** was a statist-ically significant LS SMD at 24 wk of follow-up between patients who developed HCC vs not(0.64;95%CI:0.04-1.24).CONCLUSION SWE could be a promising tool for prediction of HCC occurrence in patients treated with *** studies with larger cohorts and standardized timing of elastographic evaluation are needed to confirm these data.

关键词： Shear-wave elastography Hepatocellular carcinoma Hepatitis C virus Sustained virologic response

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Dynamic contrast enhanced ultrasound in differential diagnosis of hepatocellular carcinoma: A systematic review and meta-analysis

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World Journal of Gastrointestinal Oncology 2024年第6期16卷 2804-2815页

作者： Giorgio Esposto Paolo Santini Fabrizio Termite Linda Galasso irene Mignini Maria Elena Ainora Antonio Gasbarrini Maria Assunta Zocco Department of CEMAD Digestive Disease Center Fondazione Policlinico Universitario A Gemelli IRCCSCatholic University of RomeRome 00168Italy Department of Fondazione Policlinico Universitario Agostino Gemelli IRCCS UniversitàCattolica del Sacro CuoreRome 00168Italy Department of Medicina Interna e Gastroenterologia CEMAD Digestive Disease CenterFondazione Policlinico Universitario A Gemelli IRCCSUniversitàCattolica del Sacro CuoreRome 00168Italy

BACKGROUND Non-invasive differential diagnosis between hepatocellular carcinoma(HCC)and other liver cancer(*** or metastasis)is highly challenging and definitive diagnosis still relies on histological *** patterns of enhancement and wash-out of liver nodules can be used to stratify the risk of malignancy only in cirrhotic patients and HCC frequently shows atypical *** contrast-enhanced ultrasound(DCEUS)with standardized software could help to overcome these obstacles,providing functional and quantitative parameters and potentially improving accuracy in the evaluation of tumor *** To explore clinical evidence regarding the application of DCEUS in the differential diagnosis of liver *** A comprehensive literature search of clinical studies was performed to identify the parameters of DCEUS that could relate to histological *** accordance with the study protocol,a qualitative and quantitative analysis of the evidence was *** Rise time was significantly higher in HCC patients with a standardized mean difference(SMD)of 0.83(95%CI:0.48-1.18).Similarly,other statistically significant parameters were mean transit time local with a SMD of 0.73(95%CI:0.20-1.27),peak enhancement with a SMD of 0.37(95%CI:0.03-0.70),area wash-in area under the curve with a SMD of 0.47(95%CI:0.13-0.81),wash-out area under the curve with a SMD of 0.55(95%CI:0.21-0.89)and wash-in and wash-out area under the curve with SMD of 0.51(95%CI:0.17-0.85).SMD resulted not significant in fall time and wash-in rate,but the latter presented a trend towards greater values in HCC compared to intrahepatic *** DCEUS could improve non-invasive diagnosis of HCC,leading to less liver biopsy and early *** quantitative analysis needs to be applied on larger cohorts to confirm these preliminary results.

关键词： Dynamic contrast enhanced ultrasound Hepatocellular carcinoma Intracellular cholangiocarcinoma Quantitative ultrasound Liver cancer Time-intensity curve

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Influence of broken kernels content on soybean quality during storage

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Grain & Oil Science and Technology 2024年第2期7卷 105-112页

作者： Lazaro da Costa Correa Canizares Cesar Augusto Gaioso Newiton da Silva Timm Silvia Leticia rivero Meza Adriano Hirsch Ramos Maurício de Oliveira Everton Lutz Moacir Cardoso Elias Department of Agroindustry Science and Technology Federal University of PelotasPelotasRio Grande do Sul 96010-900Brazil Information and Communication Technological Axis Federal Institute of EducationScienceand Technology FarroupilhaCampus PanambiPanambiRio Grande do Sul 98280-000Brazil

Although it is recognized that the post-harvest system is most responsible for the loss of soybean quality,the real impact of this loss is still *** regulation allows 15%and 30%of broken soybean for group I and group II(quality groups),***,the industry is not informed about the loss in the quality parameters of soybeans and its impacts during long-term ***,the objective was to evaluate the effect of the breakage kernel percentage of soybean stored for 12 *** of 15% of breakage kernels did not affect soybean ***,content of 30% of breakage kernels affected significantly soybean quality,which was evidenced by the increase of up to 75% in moldy soybeans,72% in acidity,50% in leached solids,27% in electrical conductivity,and the decrease of up to 12% in soluble protein,6.4% in germination and 3.5% in thousand kernel weight after 8 months of *** the legislation establishes a percentage limit,it is recommended to store soybeans with up to 15% breakage *** the contrary,values higher than that can cause a significant reduction in soybean quality,resulting in commercial losses.

关键词： Soybean quality Breakage kernels Storage problems Grain defects Quality parameters

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