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Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis

Journal of Genetics and Genomics 2018年第1期45卷 41-45页

作者： Sebastia Franch-Exposito Clara Esteban-Jurado Pilar Garre Isabel Quintanilla Saray Duran-Sanchon Marcos Diaz-Gay Laia Bonjoch Miriam Cuatrecasas Esther Samper Jenifer Munoz Teresa Ocana Sabela Carballal maria Lopez-Ceron Antoni Castells maria vila-casadesus Sophia Derdak Steven Laurie Sergi Beltran Jaime carvajal Luis Bujanda Clara Ruiz-Ponte Jordi Camps Meritxell Gironella Juan Jose Lozano Francesc Balaguer Joaquin Cubiella Trinidad Caldes Sergi Castellvi-Bel Gastroenterology Department Hospital Clinic de Barcelona August Pi i Sunyer Biomedical Research Institute CIBER of Hepatic and Digestive Diseases University of Barcelona Barcelona 08036 Spain Molecular Oncology Laboratory Hospital Clinico San Carlos Health Research Institute of the Hospital Clinico San Carlos Madrid 28040 Spain Department of Pathology Hospital Clinic de Barcelona Barcelona 08036 Spain EPICOLON consortium Bioinformatics Platform CIBER of Hepatic and Digestive Diseases Barcelona 08036 Spain National Center of Genomic Analysis Science Park of Barcelona Barcelona 08028 Spain Andalusian Developmental Biology Institute CSIC-Pablo de Olavide University-Andalusian Regional Government SeviUa 41013 Spain Gastroenterology Department Hospital Donostia-Biodonostia Institute CIBER of Hepatic and Digestive Diseases University of the Basque Country (UPV/EHU) San Sebastian 20080 Spain Galician Public Foundation of Genomic Medicine (FPGMX) CIBER of Rare Diseases Genomics Medicine Group Hospital Clinico Universitario University of Santiago de Compostela Santiago de Cornpostela 15706 Spain Castroenterology Department Complexo Hospitalario Universitario de Ourense Ourense Biomedical Research Institute Ourense 32005 Spain

Colorectal cancer （CRC） is one of the most common neoplasms and an important cause of mortality worldwide （http：//globocan. ***]）. Approximately 35% of the variation in CRC susceptibility is likely due to heritable factors （Lichtenstein et al., 2000}. Genetic variations in the human genome include single nucleotide variants （SNVs）, short insertions and deletions, and larger structural variants resulting in gain or loss of genomic DNA larger than 1 kb, such as copy number variants （CNVs）. Leaving aside the importance of CNVs in sporadic tumor development, these variants can also be present in the germline DNA of healthy individuals from the general population and be considered polymorphic.

关键词： WHOLE-EXOME GENE

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Machine learning based state-of-charge prediction of electrochemical green hydrogen production:Zink-Zwischenschritt-Elektrolyseur(ZZE)

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Energy and AI 2024年第2期16卷 269-276页

作者： Daniel vila Elisabeth Hornberger Christina Toigo STOFF2 GmbH–Gebäude H/Flughafen Tegel 1 13405 BerlinGermany University of Applied Sciences Upper Austria Stelzhamerstraße 23A-4600 WelsAustria Centre for Economic Research on Inclusivity and Sustainability at the University of Galway University RoadGalwayIreland

The intermittency of renewable energy is a key limiting factor for the successful decarbonization of both energy producing and consuming sectors. Green hydrogen has the potential to act as the central energy vector connecting hard-to-abate sectors to renewable power. However, combining energy storage and conversion for a holistic electrolyzer system remains challenging. Here, we show the innovative Zink-Zwischenschritt Elektrolyseur (ZZE), or Zinc Intermediate step Electrolyzer in English, that temporarily decouples the water splitting reaction and uses zinc to store electrical energy in chemical form. To perform optimal operation of a ZZE system, machine learning models were applied to predict the state of charge of a lab scale ZZE system. Using various models, we were able to determine the effectiveness of the prediction and contrast it to state of charge predictions of other energy storage systems. We show that a bi-directional long short-term memory neural network approach has the lowest error within the testing environment. This work serves to perform further ZZE development as well as state of charge prediction for other novel energy storage technologies.

关键词： Electrolyzer Battery ZZE Energy storage State of charge Machine learning Sequence-to-sequence model

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Neuroprotective effects of G9a inhibition through modulation of peroxisome-proliferator activator receptor gamma-dependent pathways by miR-128

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Neural Regeneration Research 2024年第11期19卷 2532-2542页

作者： Aina Bellver-Sanchis Pedro AAvila-López Iva Tic David Valle-García Marta Ribalta-Vilella Luis Labrador Deb Ranjan Banerjee Ana Guerrero Gemma casadesus Coralie Poulard Mercè Pallàs Christian Grinán-Ferré Department of Pharmacology and Therapeutic Chemistry Institut de Neurociències-Universitat de BarcelonaBarcelonaSpain Department of Biochemistry and Molecular Genetics Feinberg School of MedicineNorthwestern UniversityChicagoILUSA Institute of Biotechnology National Autonomous University of MexicoCuernavacaMexico Department of Pharmacology and Therapeutics Health Science Center-University of FloridaGainesvilleFLUSA Department of Chemistry National Institute of Technology DurgapurM G AvenueDurgapurWest BengalIndia Cancer Research Cancer Lyon Universitéde LyonLyonFrance Inserm U1052 Centre de Recherche en Cancérologie de LyonLyonFrance CNRS UMR5286 Centre de Recherche en Cancérlogie de LyonLyonFrance Centro de Investigación en Red Enfermedades Neurodegenerativas(CIBERNED)Instituto de Salud Carlos IIIMadridSpain Neuroimmunology Department National Institute of Neurology and Neurosurgery“Manuel Velasco Suárez”Mexico CityMexico

Dysregulation of G9a,a histone-lysine N-methyltransferase,has been observed in Alzheimer’s disease and has been correlated with increased levels of chronic inflammation and oxidative ***,microRNAs are involved in many biological processes and diseases playing a key role in pathogenesis,especially in multifactorial diseases such as Alzheimer’s ***,our aim has been to provide partial insights into the interconnection between G9a,microRNAs,oxidative stress,and *** better understand the biology of G9a,we compared the global microRNA expression between senescence-accelerated mouse-prone 8(SAMP8)control mice and SAMP8 treated with G9a inhibitor *** found a downregulation of miR-128 after a G9a inhibition treatment,which interestingly binds to the 3′untranslated region(3′-UTR)of peroxisome-proliferator activator receptor γ(PPARG)***,Pparg gene expression levels were higher in the SAMP8 group treated with G9a inhibitor than in the SAMP8 control *** also observed modulation of oxidative stress responses might be mainly driven Pparg after G9a *** confirm these antioxidant effects,we treated primary neuron cell cultures with hydrogen peroxide as an oxidative *** this setting,treatment with G9a inhibitor increases both cell survival and antioxidant ***,up-regulation of PPARγby G9a inhibitor could also increase the expression of genes involved in DNA damage responses and *** addition,we also described that the PPARγ/AMPK axis partially explains the regulation of autophagy markers ***,PPARγ/GADD45αpotentially contributes to enhancing synaptic plasticity and neurogenesis after G9a ***,we propose that pharmacological inhibition of G9a leads to a neuroprotective effect that could be due,at least in part,by the modulation of PPARγ-dependent pathways by miR-128.

关键词： aging cognitive decline epigenetics G9a inhibition microRNAs miR-128 peroxisome-proliferator activator receptorγ(PPARγ) PPARG SAMP8

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A cleaner production strategy for acid mine drainage prevention of waste rock:A porphyry copper case

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International Journal of Mining Science and Technology 2024年第8期34卷 1163-1177页

作者： Yesica L.Botero Isabelle Demers Luis A.Cisternas ArnoldoÁvila Mostafa Benzaazoua Departamento de Ingeniería Química y Procesos de Minerales Universidad de AntofagastaAntofagasta1240000Chile Research Institute on Mines and Environment Universitédu Québec en Abitibi-TémiscamingueRouyn-NorandaQC J9X5E4Canada Eriez Flotation Group Chile S.A. Santiago1240000Chile Geology and Sustainable Mining Institute University Mohammed Ⅵ PolytechnicLot 660 Hay Moulay RachidBen Guerir 43150Morocco

An in-process technology approach is proposed to identify the source of acid mine drainage(AMD)generation and prevent its formation in a porphyry copper waste rock(WR).Adopting actions before stockpiling the WR enables the establishment of potential contaminants and predicts the more convenient method for AMD prevention.A WR sample was separated into size fractions,and the WR’s net acidgenerating potential was quantified using chemical and mineralogical *** diameter of physical locking of sulfides(DPLS)was determined,and the fractions below the DPLS were desulfurized using ***,the WR fractions and tailing from the flotation test were submitted to acid-base accounting and weathering tests to evaluate their acid-generating *** show that the WR’s main sulfide mineral is pyrite,and the DPLS was defined as 850μm.A sulfide recovery of 91%was achieved using a combination of HydroFloat^(®)and Denver cells for a size fraction lower than *** grinding was *** results show that size fractions greater than DPLS and the desulfurized WR are unlikely to produce *** outcomes show that in-processing technology can be a more proactive approach and an effective tool for avoiding AMD in a porphyry copper WR.

关键词： Waste rock Porphyry copper ore Desulfurization Acid mine drainage HydroFloat^(®) In-process technology Cleaner production

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Biodegradability of bioplastics in different aquatic environments:A systematic review

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Journal of Environmental Sciences 2024年第8期142卷 169-181页

作者： maria Cristina Lavagnolo Valentina Poli Anna maria Zampini Valentina Grossule Department of Civil Environmental and Architectural Engineering-Laboratory of Environmental EngineeringUniversity of PadovaLungargine Rovetta 8Padova 35100Italy

Bioplastics were first introduced as environmentally friendly materials,with properties similar to those of conventional plastics.A bioplastic is defined as biodegradable if it can be decomposed into carbon dioxide under aerobic degradation,or methane and CO_(2)under anaerobic conditions,inorganic compounds,and new cellular biomass,by the action of naturally occurring *** definition however does not provide any information on the environmental conditions,timescale and extent at which decomposition processes should *** regard to the aquatic environment,recognized standards have been established to assess the ability of plastics to undergo biodegradation;however,these standards fail to provide clear targets to be met to allow labelling of a bioplastic as ***,these standards grant the user an extensive leeway in the choice of process *** these reasons,the comparison of results deriving from different studies is *** authors analysed and discussed the degree of biodegradability of a series of biodegradable bioplastics in aquatic environments(both fresh and salt water)using the results obtained in the laboratory and from on-site testing in the context of different research *** Oxygen Demand(BOD),CO_(2)evolution,surface erosion and weight loss were the main parameters used by researchers to describe the percentage of *** results showed a large variability both in weight loss and BOD,even when evaluating the same type of *** confirms the need for a reference range of values to be established with regard to parameters applied in defining the biodegradability of bioplastics.

关键词： Biodegradation Bioplastic Plastic Natural environment Plastic waste

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Coffee Leaf Rust(Hemileia vastatrix)Disease in Coffee Plants and Perspectives by the Disease Control

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Phyton-International Journal of Experimental Botany 2024年第5期93卷 923-949页

作者： Alexis Salazar-Navarro Victor Ruiz-Valdiviezo Jose Joya-Dávila Daniel Gonzalez-Mendoza Instituto de Ciencias Agrícolas de la Universidad Autónoma de Baja California(ICA-UABC) Nuevo LeónBaja California21705México Laboratorio de Biología Molecular del Instituto Tecnológico Nacional de Tuxtla Gutierrez(TecNM) Tuxtla GutierrezChiapas29050México Facultad de Ciencias Agronómicas Campus V.Universidad Autónoma de Chiapas(UNACH) VillafloresChiapas30470México

Coffee Leaf Rust(CLR)is caused by Hemileia vastatrix in Coffea *** is one of the most dangerous phytopathogens for coffee plantations in terms of coffee productivity and coffee cup *** this review,we resume the problem of CLR in Mexico and the pathogenesis of *** review abord plant-pathogen interactions which lead a compatible or incompatible interactions and result in CLR disease or resistance,*** review abord Coffea *** response pathways involved in *** ***,current measures to control *** proliferation and germination were aborded focused on phytosanitary actions,and biological and chemical ***,new trendlines to reduce the impact of CLR as nanoparticles and nanotechnology were analyzed.

关键词： Coffee leaf rust Coffea arabica pathogenesis nanoparticles biological control

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Metabolomics for the diagnosis of bladder cancer: A systematic review

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Asian Journal of Urology 2024年第2期11卷 221-241页

作者： Herney Andrés García-Perdomo Angélica María Dávila-Raigoza Fernando Korkes Division of Urology/Urooncology Department of SurgerySchool of MedicineUniversidad del ValleCaliColombia UROGIV Research Group School of MedicineUniversidad del ValleCaliColombia Urologic Oncology Division of UrologyABC Medical SchoolSao PauloBrazil

Objective: Metabolomics has been extensively utilized in bladder cancer (BCa) research, employing mass spectrometry and nuclear magnetic resonance spectroscopy to compare various variables (tissues, serum, blood, and urine). This study aimed to identify potential biomarkers for early BCa ***: A search strategy was designed to identify clinical trials, descriptive and analytical observational studies from databases such as Medline, Embase, Cochrane Central Register of Controlled Trials, and Latin American and Caribbean Literature in Health Sciences. Inclusion criteria comprised studies involving BCa tissue, serum, blood, or urine profiling using widely adopted metabolomics techniques like mass spectrometry and nuclear magnetic resonance. Primary outcomes included description of metabolites and metabolomics profiling in BCa patients and the association of metabolites and metabolomics profiling with BCa diagnosis compared to control patients. The risk of bias was assessed using the Quality Assessment of Studies of Diagnostic ***: The search strategy yielded 2832 studies, of which 30 case-control studies were included. Urine was predominantly used as the primary sample for metabolite identification. Risk of bias was often unclear inpatient selection, blinding of the index test, and reference standard assessment, but no applicability concerns were observed. Metabolites and metabolomics profiles associated with BCa diagnosis were identified in glucose, amino acids, nucleotides, lipids, and aldehydes ***: The identified metabolites in urine included citric acid, valine, tryptophan, taurine, aspartic acid, uridine, ribose, phosphocholine, and carnitine. Tissue samples exhibited elevated levels of lactic acid, amino acids, and lipids. Consistent findings across tissue, urine, and serum samples revealed downregulation of citric acid and upregulation of lactic acid, valine, tryptophan, taurine, glutamine, aspartic acid, uridine, rib

关键词： Metabolite Metabolomics Bladder cancer Metabolomicsprofile

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Carbon sequestration in a bamboo plantation:a case study in a Mediterranean area

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Journal of Forestry Research 2024年第3期35卷 231-238页

作者： Tommaso Chiti Emanuele Blasi maria Vincenza Chiriaco Department for Innovation in Biological Agro-Food and Forest Systems(DIBAF)University of TusciaVia San C.De Lellis snc01100 ViterboItaly Foundation Euro-Mediterranean Center on Climate Change(CMCC) Division on Climate Change Impacts on AgricultureForests and Ecosystem Services(IAFES)Via Garbini5101100 ViterboItaly

In the Mediterranean region,despite bamboo being an alien species that can seriously alter plant and ani-mal biocoenosis,the area occupied by bamboo plantations continues to increase,especially for the purpose to seques-ter carbon(C).However,the C dynamics in the soil-plant system when bamboo is grown outside its native area are poorly *** we investigated the C mitigation potential of the fast-growing Moso bamboo(Phyllostachys edulis)introduced in Italy for climate-change *** analyzed aboveground(AGB)and belowground(as root/shoot ratio)biomass,litter and soil organic C(SOC)at O-15-and 15-30-cm depths in a 4-year-old bamboo plantation in comparison with the former annual cropland on which the bamboo was *** have an idea of the maximum C stored at an ecosystem level,a natural forest adjacent the two sites was also *** the plantation,C accumulation as AGB was stimulated,with 14.8±3.1 Mg C ha^(-1) stored in 3 years;because thinning was done to remove culms from the first year,the mean sequestration rate was 4.9 Mg C ha^(-1) a^(-1).The sequestration rates were high but comparable to other fast-growing tree species in Italy(e.g.,Pinus nigra).SOC was significantly higher in the bamboo plantation than in the cropland only at the 0-15 cm depth,but SOC stock did not *** 4 years were not enough time for a clear increase in SOC,or the high nutrient uptake by bamboos might have depleted the soil nutrients,thus inhibiting the soil organic matter formation by *** comparison,the natural forest had significantly higher C levels in all the *** C dynamics at an ecosystem level,the bamboo plantation on the former annual cropland led to substantial C removal from the atmosphere(about 12 Mg C ha^(-1) a^(-1)).However,despite the promising C sequestration rates by bamboo,its introduction should be carefully considered due to potential ecological problems caused by this species in overexploited environments such as the Med

关键词： Carbon sequestration Climate change mitigation Mediterranean area Moso bamboo Soil organic carbon

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Has the open surgical approach in colorectal cancer really become uncommon?

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World Journal of Gastrointestinal Surgery 2024年第6期16卷 1485-1492页

作者： maria Cariati Giuseppe Brisinda maria Michela Chiarello Department of Surgery Azienda Sanitaria Provinciale di CrotoneCrotone 88900Italy Abdominal and Endocrine Metabolic Medical and Surgical Sciences Fondazione Policlinico Universitario A Gemelli IRCCSRome 00168Italy Department of Surgery Azienda Sanitaria Provinciale di CosenzaCosenza 87100Italy

Colorectal cancer is the third most common cancer in the *** is man-datory to treat patients with colorectal *** colorectal cancer be treated in laparoscopy?Scientific literature has validated the oncological quality of laparo-scopic approach for the treatment of patients with colorectal *** non-inferiority trials with good remote control have answered positively to this long-debated *** as 1994,first publications demonstrated technical feasibility and compliance with oncological imperatives and,as far as short-term outcomes are concerned,there is no difference in terms of mortality and post-operative morbidity between open and minimally invasive surgical approaches,but only longer operating times at the beginning of the ***,from 2007 onwards,long-term results were published that demonstrated the ab-sence of a significant difference regarding overall survival,disease-free survival,quality of life,local and distant recurrence rates between open and minimally in-vasive *** this editorial,we aim to summarize the clinical and technical aspects which,even today,make the use of open surgery relevant and necessary in the treatment of patients with colorectal cancer.

关键词： Colorectal cancer Laparoscopy Laparoscopic colorectal resection Bowel obstruction Bowel perforation Advanced colorectal cancer

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History of chronic gastritis:How our perceptions have changed

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World Journal of Gastroenterology 2024年第13期30卷 1851-1858页

作者： Dmitry Bordin maria Livzan Department of Pancreatic Biliary and Upper GI Tract DiseasesA.S.Loginov Moscow Clinical Scientific CenterMoscow 111123Russia Department of Propaedeutic of Internal Diseases and Gastroenterology Russian University of MedicineMoscow 127006Russia Department of Outpatient Therapy and Family Medicine Tver State Medical UniversityTver 170100Russia Department of Internal Medicine and Gastroenterology Omsk State Medical UniversityOmsk 644099Russia

Currently,the diagnostic strategy for chronic gastritis(CG)is aimed not just at fixing the presence of gastric mucosal inflammation,but also at gastric cancer(GC)risk stratification in a particular *** classification approach with the definition of the stage of gastritis determines the need,activities and frequency of dynamic monitoring of a ***,this attitude to the patient suffering from CG was far from *** present publication is a literature review describing the key milestones in the history of CG research,from the description of the first observations of inflammation of the gastric mucosa,assessment of gastritis as a predominantly functional disease,to the advent of endoscopy of the upper digestive tract and diagnostic gastric biopsy,assessment of the role of Helicobacter pylori infection in progression of inflammatory changes to atrophy,intestinal metaplasia,dysplasia and GC.

关键词： Chronic gastritis Intestinal metaplasia Dysplasia Gastric cancer Helicobacter pylori

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