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A comprehensive review of genetic causes of obesity

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World Journal of Pediatrics 2024年第1期20卷 26-39页

作者： Marcio Jose Concepcion-Zavaleta Juan Eduardo Quiroz-Aldave Maria del carmen Durand-Vasquez Elman Rolando Gamarra-Osorio Juan del carmen Valencia de la Cruz Claudia Mercedes Barrueto-Callirgos Susan Luciana Puelles-leon Elena de Jesus Alvarado-leon Frans Leiva-Cabrera Francisca Elena Zavaleta-Gutierrez Luis Alberto Concepcion-Urteaga Jose Paz-Ibarra Universidad Cientifica del Sur Bolivar 2150 AvenuePueblo Libre15084LimaPeru Division of Medicine Hospital de Apoyo ChepénChepenPeru Division of Family Medicine Hospital de Apoyo ChepénChepenPeru Division of Endocrinology Hospital Victor Lazarte EchegarayTrujilloPeru Division of Pediatrics Hospital de Apoyo ChepenChepenPeru Division of Internal Medicine Hospital de Apoyo ChepenChepenPeru Division of Genetics Universidad Nacional de TrujilloTrujilloPeru Division of Neonatology Hospital Belen de TrujilloTrujilloPeru Division of Internal Medicine Universidad Nacional de TrujilloTrujilloPeru Department of Medicine School of MedicineUniversidad Nacional Mayor de San MarcosLimaPeru

Background Obesity is a multifactorial chronic disease with a high,increasing worldwide *** causes account for 7%of the cases in children with extreme *** sources This narrative review was conducted by searching for papers published in the PubMed/MEDLINE,Embase and SciELO databases and included 161 *** search used the following search terms:"obesity","obesity and genetics","leptin","Prader-Willi syndrome",and"melanocortins".The types of studies included were systematic reviews,clinical trials,prospective cohort studies,cross-sectional and prospective studies,narrative reviews,and case *** The leptin-melanocortin pathway is primarily responsible for the regulation of appetite and body ***,several important aspects of the pathophysiology of obesity remain *** causes of obesity can be grouped into syndromic,monogenic,and polygenic causes and should be assessed in children with extreme obesity before the age of 5 years,hyperphagia,or a family history of extreme obesity.A microarray study,an analysis of the melanocortin type 4 receptor gene mutations and leptin levels should be performed for this *** are three therapeutic levels:lifestyle modifications,pharmacological treatment,and bariatric *** Genetic study technologies are in constant development;however,we are still far from having a personalized approach to genetic causes of obesity.A significant proportion of the affected individuals are associated with genetic causes;however,there are still barriers to its approach,as it continues to be underdiagnosed.

关键词： Leptin Melanocortin Obesity Prader-Willi syndrome Precision medicine

Multi-omic study to unmask genes involved in prostate cancer development in amulti-case family

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Cancer Communications 2024年第3期44卷 443-447页

作者： Lucia Chica-Redecillas Sergio Cuenca-Lopez Eduardo Andres-leon Laura carmen Terron-Camero Blanca Cano-Gutierrez Jose Manuel Cozar Jose Antonio Lorente Fernando Vazquez-Alonso Luis Javier Martinez-Gonzalez Maria Jesus Alvarez-Cubero GENYO Centre for Genomics and Oncological ResearchPfizerUniversity of GranadaAndalusian Regional GovernmentPTS GranadaGranadaGranadaSpain Department of Biochemistry Molecular Biology III and ImmunologyFaculty of MedicineUniversity of GranadaPTS GranadaGranadaGranadaSpain Bioinformatics Unit Institute of Parasitology and Biomedicine“López-Neyra”Spanish National Research CouncilGranadaGranadaSpain Nursery Service.University Hospital Clínico San Cecilio GranadaGranadaSpain Urology Department University Hospital Virgen de las NievesGranadaGranadaSpain Legal Medicine and Toxicology Department Faculty of MedicineUniversity of GranadaPTS GranadaGranadaGranadaSpain Ibs Biosanitary Research InstituteGranadaGranadaSpain

Dear Editor,Hereditary prostate cancer(PC)comprises 5%-10%of all PC *** increased risk of PC in menwith a family his-tory of the disease is well known and is commonly caused by germline mutations,leading to clinical guidelines men-tioning various genes for identifying high-risk ***,the complex inheritance patterns involvingmul-tiple single nucleotide polymorphisms(SNPs)make it a genetically heterogeneous disease,with genetic testing still in its early stages.

关键词： cancer clinical cases

Periodontitis and chronic kidney disease:A bidirectional relationship based on inflammation and oxidative stress

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World Journal of Clinical Cases 2024年第35期12卷 6775-6781页

作者： Melissa Martínez Nieto Martha Leticia De leon Rodríguez Rocio del carmen Anaya Macias Sarah Monserrat LomelíMartínez Independent Researcher Tijuana 22116Baja CaliforniaMexico Department of Medical and Life Sciences Centro Universitario de la CiénegaCentro Universitario de la CiénegaUniversidad de GuadalajaraOcotlan 47810JaliscoMexico Department of Medical and Life Sciences Centro Universitario de la CiénegaUniversidad de GuadalajaraOcotlán 47810Mexico Master of Public Health Department of Well-being and Sustainable DevelopmentCentro Universitario del NorteUniversidad de GuadalajaraColotlan 46200JaliscoMexico

Chronic kidney disease(CKD)and chronic periodontitis(CP)are prevalent conditions which significantly impact public health *** diseases share inflammatory and oxidative stress mechanisms,an indication of a likely bidirectional *** editorial explored the association between CKD and CP by highlighting common inflammatory mechanisms and recent research findings that address this *** reviews of recent studies,we discussed how periodontal bacteria may activate systemic immune responses that affect both periodontal and renal ***,meta-analysis data indicated an increased risk of CKD development in patients with CP,and vice *** results suggest the need for more rigorous research in the future in order to address the confounding factors and evaluate specific periodontal health interventions and their direct effects on kidney *** emphasized the importance of comprehensive and multidisciplinary care for the improvement of the overall health of patients affected by CP and CKD.

关键词： Periodontitis Chronic kidney disease Periodontal disease Oxidative stress Inflammation

The GSTP1 gene variant rs1695 is not associated with an increased risk of multiple sclerosis

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Cellular & Molecular Immunology 2015年第6期12卷 777-779页

作者： Jose AG Agundez Elena Garcia-Martin carmen Martinez Julian Benito-leon Julian Benito-leon Jorge Millan-PascualMaria Diaz-Sanchez Patricia Calleja Diana Pisa Laura Turpin-Fenoll Hortensia Alonso-Navarro Lucia Ayuso-Peralta Dolores Torrecillas Esteban Garcla-Albea Jose Francisco Plaza-Nieto Felix Javier Jimenez-Jimenez Department of Pharmacology University of Extremadura CAceres Spain Department of Biochemistry and Molecular Biology University of Extremadura Caceres Spain CiBERNED Centro de InvestigaciOn BiomEdica en Red de Enfermedades Neurodegenerativas Instituto de Salud Carlos III Spain Service of Neurology Hospital Universitario Doce de Octubre Madrid Spain Department of Medicine University Complutense Madrid Spain Section of Neurology Hospital La Mancha-Centro Alcazar de San Juan (Ciudad Real) Spain Centro de Biologfa Molecular Severo Ochoa (CSIC-UAM) Facultad de Ciencias Universidad Autonoma Cantoblanco 28049 Madrid Spain Department of Medicine-Neurology Hospital 'Principe de Asturias' Universidad de Alcala Alcala de Henares (Madrid) Spain Section of Neurology Hospital Universitario del Sureste Arganda del Rey (Madrid) Spain Correspondence: Dr FJ Jimenez-Jimenez C/Marroquina 14 3° B E-28030 Madrid Spain.

We analyzed the allelic and genotypic frequencies of the glutathione-S-transferase P1 （GSTPI） rs1695 single nucleotide polymorphism （SNP） in 290 patients with multiple sclerosis （MS） and in 310 healthy controls. We found no significant association between the rs1695 variant and MS. Among MS patients, there was no relationship between the rs1695 variant and either gender, clinical type of MS or the age of onset of MS.

关键词：多发性硬化多态性单核苷酸发病年龄谷胱甘肽基因性别特性一氧化氮胰岛素

Pre-fire aboveground biomass, estimated from LiDAR, spectral and field inventory data, as a major driver of burn severity in maritime pine (Pinus pinaster) ecosystems

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Forest Ecosystems 2022年第2期9卷 234-246页

作者： Jose Manuel Fernandez-Guisuraga Susana Suarez-Seoane Paulo MFernandes Victor Fernandez-Garcia Alfonso Fernandez-Manso carmen Quintano leonor Calvo Area of Ecology Department of Biodiversity and Environmental ManagementFaculty of Biological and Environmental SciencesUniversity of Leon24071LeonSpain Centro de Investigacao e de Tecnologias Agroambientais e Biologicas Universidade de Tras-os-Montes e Alto Douro5000-801Vila RealPortugal Department of Organisms and Systems Biology(Ecology Unit)and Research Unit of Biodiversity(IMIB UO-CSIC-PA)University of OviedoOviedoMieresSpain Agrarian Science and Engineering Department School of Agricultural and Forestry EngineeringUniversity of Leon24400PonferradaSpain Electronic Technology Department School of Industrial EngineeringUniversity of Valladolid47011ValladolidSpain Sustainable Forest Management Research Institute University of Valladolid-Spanish National Institute for Agriculture and Food Research and Technology(INIA)34004PalenciaSpain

Background:The characterization of surface and canopy fuel loadings in fire-prone pine ecosystems is critical for understanding fire behavior and anticipating the most harmful ecological effects of ***,the joint consideration of both overstory and understory strata in burn severity assessments is often *** aim of this work was to assess the role of total,overstory and understory pre-fire aboveground biomass(AGB),estimated by means of airborne Light Detection and Ranging(LiDAR)and Landsat data,as drivers of burn severity in a megafire occurred in a pine ecosystem dominated by Pinus pinaster *** the western Mediterranean ***:Total and overstory AGB were more accurately estimated(R^(2) equal to 0.72 and 0.68,respectively)from LiDAR and spectral data than understory AGB(R^(2)=0.26).Density and height percentile LiDAR metrics for several strata were found to be important predictors of *** severity responded markedly and non-linearly to total(R^(2)=0.60)and overstory(R ^(2)=0.53)AGB,whereas the relationship with understory AGB was weaker(R ^(2)=0.21).Nevertheless,the overstory plus understory AGB contribution led to the highest ability to predict burn severity(RMSE=122.46 in dNBR scale),instead of the joint consideration as total AGB(RMSE=158.41).Conclusions:This study novelty evaluated the potential of pre-fire AGB,as a vegetation biophysical property derived from LiDAR,spectral and field plot inventory data,for predicting burn severity,separating the contri-bution of the fuel loads in the understory and overstory strata in Pinus pinaster *** evidenced relationships between burn severity and pre-fire AGB distribution in Pinus pinaster stands would allow the implementation of threshold criteria to support decision making in fuel treatments designed to minimize crown fire hazard.

关键词： Aboveground biomass Burn severity Landsat LiDAR Pinus pinaster

Motor Effects of 1,3-Disubstituted 8-Styrylxanthines as A_(1) and A_(2) Adenosine-Receptor Antagonists in Rats

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Pharmacology & Pharmacy 2013年第3期4卷 303-311页

作者： Ilhuicamina Daniel Limon-Perez de leon Maria del carmen Parra-Cid Alejandro Munoz-Zurita Saul Alejandro Merino-Contreras Sara Montiel-Smith Socorro Meza-Reyes Gerardo Ramirez-Meja Jesus Sandoval-Ramirez Facultad de Ciencias Quimicas Benemerita Universidad Autonoma de PueblaPueblaMexico Instituto Nacional de Rehabili-tacion Unidad de Ingenieria de TejidosTerapia Celular y Medicina RegenerativaMexico DFMexico.

A series of 1,3-substituted 8-styrylxanthines (11a-d) was synthesized, under chemo- and regioselective conditions, in a good overall yield. The compounds showed affinity towards both A1 and A2A-adenosine receptors by radioligand binding by means of in vitro assays. The (E)-3-ethyl-1-propyl-8-styrylxanthine (11a) showed the greatest affinity towards the A2A receptor, whereas (E)-3-pentyl-1-propyl-8-styrylxanthine (11d) showed the greatest affinity for the A1 receptor. When the 8-styrylxanthines 11a (A15Et) and 11c (A15Bu) were administrated in rats, which were previously injured with 6-hydroxydopamine at the substantia nigra pars compacta (SNc), the turning behavior decreased 50%. Based on these results we propose to A15Et as a potential compound to treat some symptoms of Parkinson’s disease.

关键词： Xantines Adenosine Receptors Antagonists Turning Behavior Anti-Parkinsonian Drugs

Dendritic cell deficiencies persist seven months after SARS-CoV-2 infection

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Cellular & Molecular Immunology 2021年第9期18卷 2128-2139页

作者： Alberto Pérez-Gómez Joana Vitallé carmen Gasca-Capote Alicia Gutierrez-Valencia María Trujillo-Rodriguez Ana Serna-Gallego Esperanza Muñoz-Muela María de los Reyes Jiménez-leon Mohamed Rafii-El-Idrissi Benhnia Inmaculada Rivas-Jeremias Cesar Sotomayor Cristina Roca-Oporto Nuria Espinosa carmen Infante-Domínguez Juan Carlos Crespo-Rivas Alberto Fernández-Villar Alexandre Pérez-González Luis Fernando López-Cortés Eva Poveda Ezequiel Ruiz-Mateos JoséMiguel Cisneros Sonsoles Salto-Alejandre Judith Berastegui-Cabrera Pedro Camacho-Martínez carmen Infante-Domínguez Marta Carretero-Ledesma Juan Carlos Crespo-Rivas Eduardo Márquez JoséManuel Lomas Claudio Bueno Rosario Amaya JoséAntonio Lepe Jerónimo Pachón Elisa Cordero Javier Sánchez-Céspedes Manuela Aguilar-Guisado Almudena Aguilera Clara Aguilera Teresa Aldabo-Pallas Verónica Alfaro-Lara Cristina Amodeo Javier Ampuero María Dolores Avilés Maribel Asensio Bosco Barón-Franco Lydia Barrera-Pulido Rafael Bellido-Alba Máximo Bernabeu-Wittel Candela Caballero-Eraso Macarena Cabrera Enrique Calderón Jesús Carbajal-Guerrero Manuela Cid-Cumplido Yael Corcia-Palomo Juan Delgado Antonio Domínguez-Petit Alejandro Deniz Reginal Dusseck-Brutus Ana Escoresca-Ortega Fátima Espinosa Nuria Espinosa Michelle Espinoza carmen Ferrándiz-Millón Marta Ferrer Teresa Ferrer Ignacio Gallego-Texeira Rosa Gámez-Mancera Emilio García Horacio García-Delgado Manuel García-Gutiérrez María Luisa Gascón-Castillo Aurora González-Estrada Demetrio González carmen Gómez-González Rocío González-León carmen Grande-Cabrerizo Sonia Gutiérrez Carlos Hernández-Quiles Inmaculada Concepción Herrera-Melero Marta Herrero-Romero Luis Jara Carlos Jiménez-Juan Silvia Jiménez-Jorge Mercedes Jiménez-Sánchez Julia Lanseros-Tenllado Carmina López Isabel López Álvaro López-Barrios Luis F.López-Cortés Rafael Luque-Márquez Daniel Macías-García Guillermo Martín-Gutiérrez Luis Martín-Villén JoséMolina Aurora Morillo María Dolores Navarro-Amuedo Dolores Nieto-Martín Francisco Ortega María Paniagua-García Amelia Peña-Rodríguez E Clinical Unit of Infectious Diseases Microbiology and Preventive MedicineInstitute of Biomedicine of Seville(IBiS)Virgen del Rocío University HospitalCSICUniversity of SevilleSevilleSpain Department of Medical Biochemistry Molecular Biologyand ImmunologySchool of MedicineUniversity of SevilleSevilleSpain Pneumology Service Galicia Sur Health Research Instituto(IIS Galicia Sur)SERGAS-UVigoVigoSpain Infectious Diseases Unit Department of Internal MedicineComplexo HospitalarioUniversitario de VigoIIS Galicia SurSERGAS-UVigoVigoSpain Group of Virology and Pathogenesis Galicia Sur Health Research Institute(IIS Galicia Sur)-Complexo Hospitalario Universitario de VigoSERGAS-UVigoVigoSpain Unit of Infectious Diseases Microbiologyand Preventive MedicineVirgen del Rocío University HospitalSevilleSpain Institute of Biomedicine of Seville(IBiS) Virgen del Rocío University Hospital/CSIC/University of SevilleSevilleSpain Medico-Surgical Unit of Respiratory Diseases Virgen del Rocío University HospitalSevilleSpain Unit of Emergencies Virgen del Rocío University HospitalSevilleSpain Intensive Care Unit Virgen del Rocío University HospitalSevilleSpain Department of Medicine University of SevilleSevilleSpain Cardiology and Cardiovascular Surgery Unit Virgen del Rocío University HospitalSevilleSpain Rheumatology Unit Virgen del Rocío University HospitalSevilleSpain Internal Medicine Unit Virgen del Rocío University HospitalSevilleSpain Digestive and Hepatobiliary Unit Virgen del Rocío University HospitalSevilleSpain Neurology and Clinical Neurophysiology Unit Virgen del Rocío University HospitalSevilleSpain Endocrinology and Nutrition Unit Virgen del Rocío University HospitalSevilleSpain Urology and Nephrology Unit Virgen del Rocío University HospitalSevilleSpain Unit of Clinical Investigation and Clinical Trials Virgen del Rocío University HospitalSevilleSpain

Severe Acute Respiratory Syndrome Coronavirus(SARS-CoV)-2 infection induces an exacerbated inflammation driven by innate immunity *** cells(DCs)play a key role in the defense against viral infections,for instance plasmacytoid DCs(pDCs),have the capacity to produce vast amounts of interferon-alpha(IFN-α).In COVID-19 there is a deficit in DC numbers and IFN-αproduction,which has been associated with disease *** this work,we described that in addition to the DC deficiency,several DC activation and homing markers were altered in acute COVID-19 patients,which were associated with multiple inflammatory ***,previously hospitalized and nonhospitalized patients remained with decreased numbers of CD1c+myeloid DCs and pDCs seven months after SARS-CoV-2 ***,the expression of DC markers such as CD86 and CD4 were only restored in previously nonhospitalized patients,while no restoration of integrinβ7 and indoleamine 2,3-dyoxigenase(IDO)levels were *** findings contribute to a better understanding of the immunological sequelae of COVID-19.

关键词： SARS-CoV-2 COVID-19 Dendritic cell Long-COVID

Post-Mortem Study of Refractory Concretes Exposed to Corrosive Effect of Synthetic Slag of Petroleum Coke

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材料科学与工程（中英文版） 2010年第10期4卷 24-33页

作者： Rodrigo Puente Ornelas Ana Maria Guzman Hernandez Tushar Kanty Das Roy Guadalupe Alan Castillo Rodriguez Carlos Javier Lizcano Zulaica Patricia del carmen Zambrano Robledo Doctoral Program of Materials Engineering Faculty of Mechanical and Electrical Engineering Autonoma University of Nuevo Leon Av. Universidad S/N Cd. Universitaria San Nicolas de los Garza C.P. 66450 Nuevo Le6n Mexico

Effectiveness and safety of first-generation protease inhibitors in clinical practice:Hepatitis C virus patients with advanced fibrosis

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World Journal of Gastroenterology 2015年第30期21卷 9163-9174页

作者： Javier Salmeron carmen Vinaixa Ruben Berenguer Juan Manuel Pascasio Juan Jose Sanchez Ruano Miguel angel Serra Ana Gila Moises Diago Manuel Romero-Gomez Jose Maria Navarro Milagros Testillano Conrado Fernandez Dolores Espinosa Isabel Carmona Jose Antonio Pons Francisco Jorquera Francisco Javier Rodriguez Ramon Perez Jose Luis Montero Rafael Granados Miguel Fernandez Ana Belen Martin Paloma Munoz de Rueda Rosa Quiles CIBERehd Instituto de Salud Carlos Ⅲ28029 MadridSpain Unit for Clinical Management of Digestive Diseases Complejo Hospitalario Universitario de Granada Instituto de Investigacion Biosanitaria de Granada University Hospital Politecnico La Fe Unit for Clinical Management of Digestive Diseases University Hospital Virgen Del Rocio Hospital Toledo University Clinic Hospital of Valencia University General Hospital of Valencia Unit for Clinical Management of Digestive Diseases University Hospital Nuestra Senora de Valme Department of Gastroenterology and Hepatology Agencia Sanitaria Costa del Sol University Hospital Cruces Gastroenterology Unit University Hospital Fundacion Alcorcon University Hospital Virgen Macarena University Hospital Virgen de la Arrixaca Hospital of leon University General Hospital Reina Sofia Department Gastroenterology and Hepatology University Hospital Central de Asturias University Hospital Reina Sofia University Hospital De Gran Canaria Dr. Negrin Hospital San Pedro de Alcantara

AIM:To evaluates the effectiveness and safety of the first generation,NS3/4A protease inhibitors(PIs) in clinical practice against chronic C virus,especially in patients with advanced fibrosis. METHODS:Prospective study and non-experimental analysis of a multicentre cohort of 38 Spanish hospitals that includes patients with chronic hepatitis C genotype 1,treatment-na?ve(TN) or treatment-experienced(TE),who underwent triple therapy with the first generation NS3/4A protease inhibitors,boceprevir(BOC) and telaprevir(TVR),in combination with pegylated interferon and ribavirin. The patients were treatment in routine practice settings. Data on the study population and on adverse clinical and virologic effects were compiled during the treatment period and during follow ***:One thousand and fifty seven patients were included,405(38%) were treated with BOC and 652(62%) with TVR. Of this total,30%(n = 319) were TN and the remaining were TE:28%(n = 298) relapsers,12%(n = 123) partial responders(PR),25%(n = 260) null-responders(NR) and for 5%(n = 57) with prior response unknown. The rate of sustained virologic response(SVR) by intention-to-treatment(ITT) was greater in those treated with TVR(65%) than in those treated with BOC(52%)(P < 0.0001),whereas by modified intention-to-treatment(m ITT) no were found significant differences. By degree of fibrosis,56% of patients were F4 and the highest SVR rates were recorded in the non-F4 patients,both TN and TE. In the analysis by groups,the TN patients treated with TVR by ITT showed a higher SVR(P = 0.005). However,by m ITT there were no significant differences between BOC and TVR. In the multivariate analysis by m ITT,the significant SVR factors were relapsers,IL28 B CC and non-F4; the type of treatment(BOC or TVR) was not significant. The lowest SVR values were presented by the F4-NR patients,treated with BOC(46%) or with TVR(45%). 28% of the patients interrupted the treatment,mainly by non-viral response(51%):this outcome was

关键词： Hepatitis C Boceprevir Telaprevir First-generation protease inhibitors Advanced fibrosis