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Novel TINF2 gene mutation in dyskeratosis congenita with extremely short telomeres:A case report

World Journal of Clinical Cases 2022年第33期10卷 12440-12446页

作者： Verónica Judith Picos-Cárdenas Saúl armando Beltrán-Ontiveros JoséAlfonso Cruz-Ramos JoséAlfredo Contreras-Gutiérrez eliakym arámbula-meraz Carla Angulo-Rojo Alma Marlene Guadrón-Llanos Emir Adolfo Leal-León Dora María Cedano-Prieto Juan Pablo Meza-Espinoza Laboratorio de Genética Facultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Centro de Investigación y Docencia en Ciencias de la Salud Hospital Civil de CuliacánUniversidad Autónoma de SinaloaCuliacán 80030SinaloaMexico Departamento de Clínicas Médicas Centro Universitario de Ciencias de la SaludUniversidad de GuadalajaraGuadalajara 44340JaliscoMexico Facultad de Medicina Universidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Laboratorio de Genética y Biología Molecular Facultad de Ciencias Químico-BiológicasUniversidad Autónoma de SinaloaCuliacán 80010SinaloaMexico Laboratorio de Neurociencias Facultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Laboratorio de Diabetes y Comorbilidades Facultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Facultad de Medicina Universidad Autónoma de TamaulipasMatamoros 87349TamaulipasMexico

BACKGROUND Dyskeratosis congenita is a rare disease characterized by bone marrow failure and a clinical triad of oral leukoplakia,nail dystrophy,and abnormal skin *** genetics of dyskeratosis congenita include mutations in genes involved in telomere maintenance,including *** SUMMarY Here,we report a female patient who presented thrombocytopenia,anemia,reticulate hyperpigmentation,dystrophy in fingernails and toenails,and leukoplakia on the tongue.A histopathological study of the skin showed dyskeratocytes;however,a bone marrow biopsy revealed normal cell *** patient was diagnosed with dyskeratosis congenita,but her family history did not reveal significant ***-exome sequencing showed a novel heterozygous punctual mutation in exon 6 from the TINF2 gene,namely,NM_001099274.1:-c.854delp.(Val285-Alafs*32).An analysis of telomere length showed short telomeres relative to the patient’s *** The disease in this patient was caused by a germline novel mutation of TINF2 in one of her parents.

关键词： Dyskeratosis congenita TINF2 Germline mutation Novel mutation Short telomeres Case report

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Levels of evidence and grades of recommendation supporting European society for medical oncology clinical practice guidelines

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Oncology Research 2024年第5期32卷 807-815页

作者： MarKO SKELIN BRUNA PERKOV-STIPIČIN SANJA VUŠKOVIĆ MarINAŠANDRK PLEHAČEK ANE BAŠIĆ DAVIDŠarČEVIĆ MAJA ILIĆ IVAN KREČAK Pharmacy Department General Hospital ofŠibenik-Knin CountyŠibenikCroatia2 Faculty of MedicineUniversity of RijekaRijekaCroatia3 Undergraduate Study in NursingUniversity of Applied SciencesŠibenikCroatia4 Department of OncologyUniversity Hospital Center ZagrebZagrebCroatia5 Pharmacies JoukhadarSveta NedeljaCroatia6 Pharmacies Prima PharmeZagrebCroatia7 Pharmacy DepartmentGeneral Hospital ZadarZadarCroatia8 Pharmacy DepartmentGeneral Hospital PulaPulaCroatia9 Department of Internal MedicineGeneral Hospital ofŠibenik-Knin CountyŠibenikCroatia

Background:The European Society for Medical Oncology(ESMO)guidelines are among the most comprehensive and widely used clinical practice guidelines(CPGs)***,the level of scientific evidence supporting ESMO CPG recommendations has not been systematically *** study assessed ESMO CPG levels of evidence(LOE)and grades of recommendations(GOR),as well as their trends over time across various cancer ***:We manually extracted every recommendation with the Infectious Diseases Society of America(IDSA)classification from each *** examined the distribution of LOE and GOR in all available ESMO CPG guidelines across different topics and cancer ***:Among the 1,823 recommendations in the current CPG,30%were classified as LOEⅠ,and 43%were classified as GOR ***,there was a slight decrease in LOEⅠ(−2%)and an increase in the proportion of GOR A(+1%)in the current CPG compared to previous *** proportion of GOR A recommendations based on higher levels of evidence such as randomized trials(LOEⅠ–Ⅱ)shows a decrease(71%vs.63%,p=0.009)while recommendations based on lower levels of evidence(LOEⅢ–Ⅴ)show an increase(29%vs.37%,p=0.01)between previous and current *** the current versions,the highest proportion of LOEⅠ(42%)was found in recommendations related to pharmacotherapy,while the highest proportion of GOR A recommendations was found in the areas of pathology(50%)and diagnostic(50%)*** variability in LOEⅠand GOR A recommendations and their changes over time was observed across different cancer ***:One-third of the current ESMO CPG recommendations are supported by the highest level of *** well-designed randomized clinical trials are needed to increase the proportion of LOEⅠand GOR A recommendations,ultimately leading to improved outcomes for cancer patients.

关键词： ESMO guidelines Clinical practice guidelines Level of evidence Grade of recommendation

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基于金属-有机框架同分异构体构建MOFs相结用以增强CO_(2)光还原活性

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Science China Materials 2024年第6期67卷 1839-1845页

作者：黄海波李兰王瑞 ar Mahammed Shaheer 刘天赋刘海雄曹荣 School of Environmental Science and Engineering Qingdao UniversityQingdao 266071China State Key Laboratory of Structural Chemistry Fujian Institute of Research on the Structure of MatterChinese Academy of SciencesFuzhou 350002China University of Chinese Academy of Sciences Chinese Academy of SciencesBeijing 100049China College of Materials and Chemistry China Jiliang UniversityHangzhou 310018China

利用太阳能将CO_(2)光转化为化学燃料是前沿研究的热点.当前,科研的重点在于开发和优化各类光催化材料的性能.异质结构不仅用于增强无机半导体催化剂的活性,而且用于金属-有机框架(MOFs)光催化剂的构建.随着异质结技术的不断进步,新的... 详细信息

利用太阳能将CO_(2)光转化为化学燃料是前沿研究的热点.当前,科研的重点在于开发和优化各类光催化材料的性能.异质结构不仅用于增强无机半导体催化剂的活性,而且用于金属-有机框架(MOFs)光催化剂的构建.随着异质结技术的不断进步,新的相结概念应运而生.尽管关于无机半导体中的相结研究已取得一定进展,但是MOFs相结结构的探索尚处于起步阶段.本文中,我们成功设计并构建了一种具有卓越光催化CO_(2)还原性能的MOFs相结杂化材料.这种材料由具有高度连接性的卟啉配体(TCPP-Ni)与Zr6团簇紧密结合而成,在溶剂热反应条件下,PCN-222-Ni能够快速且均匀地成核.通过精准调控调节剂的用量,我们实现了同分异构体PCN-224-Ni在类似条件下较慢的晶体形成过程.最终制得的P@P杂化材料展现出高表面积、多孔性和卓越的结晶度.由于PCN-222-Ni和PCN-224-Ni之间的带隙匹配,光生载流子的分离和迁移得以促进,从而使P@P杂化材料展现出卓越的光还原CO_(2)性能.这一重大突破不仅标志着MOFs相结结构研究的重大进展,还拓宽了MOFs相结在CO_(2)光转化领域的应用前景.

关键词： MOFs polymorphism phase-junctions photo-catalytic CO_(2)reduction

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ApoB-100, ApoE and CYP7A1 gene polymorphisms in Mexican patients with cholesterol gallstone disease

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World Journal of Gastroenterology 2010年第37期16卷 4685-4690页

作者： Sánchez-Cuén Jaime Aguilar-Medina Maribel arámbula-meraz eliakym Romero-Navarro José Granados Julio Sicairos-Medina Laura Ramos-Payán Rosalío División de Gastroenterología Hospital Regional ISSSTE Facultad de Ciencias Químico Biológicas Doctorado en Biotecnología y Maestría en Ciencias Biomédicas Universidad Autónoma de Sinaloa División de Inmunogenética Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

AIM: To determine the possible association of the ApoB100 (Xba Ⅰ ), ApoE (Hha Ⅰ ) and CYP7A1 (Bsa Ⅰ ) gene polymorphisms, with the development of cholesterol gallstone disease (GD) in a Mexican population. METHODS: The polymorphisms were analyzed by polymerase chain reaction followed by restriction fragment length polymorphism, in two groups matched by ethnicity, age and sex: patients with GD (n = 101) and stone-free control subjects (n = 101). RESULTS: Allelic frequencies in patients and controls were: 34.16% vs 41.58% (P = 0.124) for X+of ApoB-100; 4.46% vs 5.94% (P = 0.501) for E2, 85.64% vs 78.22% (P = 0.052) for E3, 9.90% vs 15.84% (P = 0.075) for E4 of ApoE; and 25.74% vs 27.72% (P = 0.653) for C of CYP7A1. Differences in genotypic frequencies between the studied groups were not significant (P < 0.05). CONCLUSION: These results demonstrated that no association exists between the studied polymorphisms and cholelithiasis in this high prevalent population.

关键词： Apolipoprotein CYP7A1 Gallstones Mexicans Polymorphisms

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Inhibition of Ehrlich ascites carcinoma growth by melatonin:Studies with micro-CT

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Oncology Research 2024年第1期32卷 175-185页

作者： SEHER YILMAZ ZÜLEYHA DOĞANYIĞIT MERT OCAK EVRIM SUNA arIKAN SÖYLEMEZ ASLI OKAN OFLAMAZ SÜMEYYE UÇar ŞÜKRÜATEŞ AMMAD AHMAD FarOOQI Department of Anatomy Faculty of MedicineYozgat Bozok UniversityYozgatTurkey Department of Mechanical and Aerospace Engineering Case Western Reserve UniversityClevelandOhioUSA Department of Histology and Embriology Faculty of MedicineYozgat Bozok UniversityYozgatTurkey Department of Anatomy Faculty of DentistryAnkara UniversityAnkaraTurkey Department of Medical Biology Faculty of MedicineAfyonkarahisar Health Sciences UniversityAfyonTurkey Department of Anatomy Faculty of MedicineErciyes UniversityKayseriTurkey Department of Molecular Oncology Institute of Biomedical and Genetic Engineering(IBGE)IslamabadPakistan

Melatonin is a versatile indolamine synthesized and secreted by the pineal gland in response to the photoperiodic information received by the retinohypothalamic signaling *** has many benefits,such as organizing circadian rhythms and acting as a powerful *** aimed to show the antitumor effects of melatonin in both in vivo and in vitro models through the mammalian target of rapamycin(mTOR)signaling pathway and the argyrophilic Nucleolar Regulatory Region(AgNOR),using the Microcomputed Tomography(Micro CT).Ehrlich ascites carcinoma(EAC)cells were administered into the mice by subcutaneous *** with solid tumors were injected intraperitoneally with 50 and 100 mg/kg melatonin for 14 *** measurements for the taken tumors were made with micro-CT imaging,immunohistochemistry(IHC),real-time polymerase chain reaction(PCR)and ***,the tumor tissue volume in the Tumor+100 mg/kg melatonin group was significantly lower than that in the other groups in the data obtained from micro-CT *** the IHC analysis,the groups treated with Tumor+100 mg/kg melatonin were compared when the mTOR signaling pathway and factor 8(F8)expression were compared with the control *** was determined that there was a significant decrease(parea/nuclear area(TAA/NA)ratio in the treatment groups(paracterization of the melatonin-mediated cancer inhibitory effects will be valuable in advanc

关键词： Signaling pathway Apoptosis Real-time PCR AgNOR

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Single atom Cu-N-C catalysts for the electro-reduction of CO_(2) to CO assessed by rotating ring-disc electrode

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Journal of Energy Chemistry 2024年第1期88卷 169-182,I0004页

作者： S.Pérez-Rodríguez M.Gutiérrez-Roa C.Giménez-Rubio D.Ríos-Ruiz P.arévalo-Cid M.V.Martínez-Huerta A.Zitolo M.J.Lázaro D.Sebastián Instituto de Carboquímica(CSIC) Miguel Luesma Castán 450018 ZaragozaSpain Instituto de Catálisis y Petroleoquímica(CSIC) Marie Curie 228049 MadridSpain Synchrotron SOLEIL L’Orme des MerisiersDépartementale 12891190France

The electrochemical CO_(2) reduction reaction(CO_(2)RR) to controllable chemicals is considered as a promising pathway to store intermittent renewable energy. Herein, a set of catalysts based on copper-nitrogendoped carbon xerogel(Cu-N-C) are successfully developed varying the copper amount and the nature of the copper precursor, for the efficient CO_(2)RR. The electrocatalytic performance of Cu-N-C materials is assessed by a rotating ring-disc electrode(RRDE), technique still rarely explored for CO_(2)RR. For comparison, products are also characterized by online gas chromatography in a H-cell. The as-synthesized Cu-NC catalysts are found to be active and highly CO selective at low overpotentials(from -0.6 to -0.8 V ***) in 0.1 M KHCO_(3), while H_(2) from the competitive water reduction appears at larger overpotentials(-0.9 V vs. RHE). The optimum copper acetate-derived catalyst containing Cu-N_(4) moieties exhibits a CO_(2)-to-CO turnover frequency of 997 h^(-1) at -0.9 V vs. RHE with a H_(2)/CO ratio of 1.8. These results demonstrate that RRDE configuration can be used as a feasible approach for identifying electrolysis products from CO_(2)RR.

关键词： Cu-N-C Carbon xerogel Rotating ring disc electrode Carbon dioxide reduction reaction Carbon monoxide

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Quality-adjusted life years and surgical waiting list:Systematic review of the literature

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World Journal of Gastrointestinal Surgery 2024年第4期16卷 1155-1164页

作者： Roberto de la Plaza Llamas Lorena Ortega Azor Marina Hernández Yuste Ludovica Gorini Raquel aránzazu Latorre-Fragua Daniel Alejandro Díaz Candelas Farah Al Shwely Abduljabar Ignacio Antonio Gemio del Rey Department of General and Digestive Surgery Hospital Universitario de GuadalajaraGuadalajara 19002Spain Department of Surgery Medical and Social SciencesFaculty of Medicine and Health SciencesUniversity of AlcaláAlcaláde Henares 28871MadridSpain

BACKGROUND The quality-adjusted life year(QALY)is a metric that is increasingly used today in the field of health economics to evaluate the value of different medical treatments and *** waiting lists(SWLs)represent a pressing problem in public *** QALY measure has rarely been used in the context of *** would be interesting to know how many QALYs are lost by patients on *** To investigate the relationship between QALYs and SWLs in a systematic review of the scientific *** The study was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses *** unlimited search was carried out in PubMed,updated on January 19,*** on the following variables were investigated and analyzed:Specialty,country of study,procedure under study,scale used to measure QALYs,the use of a theoretical or real-life model,objectives of the study and items measured,the economic value assigned to the QALY in the country in question,and the results and conclusions *** Forty-eight articles were selected for the *** data were found regarding QALYs lost on *** specialties in which QALYs were studied the most in relation to the waiting list were urology and general surgery,with 15 articles *** country in which the most studies of QALYs were carried out was the United States(n=21),followed by the United Kingdom(n=9)and Canada(n=7).The most studied procedure was organ transplantation(n=39),including 15 kidney,14 liver,5 heart,4 lung,and 1 ***(n=4),cataract surgery(n=2),bariatric surgery(n=1),mosaicplasty(n=1),and septoplasty(n=1)completed the surgical interventions ***-nine of the models used were theoretical(the most frequently applied being the Markov model,n=34),and nine were *** survey used to measure quality of life in 11 articles was the European Quality of Life-5 dimensions,but in 32 articles the survey was not specified.T

关键词： Quality-adjusted life year Waitlist Quality of life Surgery Systematic review

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Camera traps reveal the natural corridors used by mammalian species in eastern Mexico

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Ecological Processes 2022年第1期11卷 711-722页

作者： Jonathan O.Huerta‑Rodríguez Octavio C.Rosas‑Rosas Lauro López‑Mata JoséL.Alcántara‑Carbajal Luis A.Tarango‑arámbula Programa de Recursos Genéticos y Productividad‑Ganadería Colegio de Post‑graduadosCampus MontecilloTexcocoMexico Programa de Innovación en Manejo de Recursos Naturales Colegio de PostgraduadosCampus San Luis PotosíSan Luis PotosíMexico Programa de Dinámica y Conservación de Bosques y Selvas Macroecología y BiodiversidadColegio de PostgraduadosCampus MontecilloTexcocoMexico

Background:Habitat loss and fragmentation in the Sierra Madre Oriental(SMO)ecological corridor have negative impacts on the movement and distribution of mammalian species that are of great ecological and evolutionary *** of the SMO ecological corridor that is located in the state of Hidalgo is less studied despite being a potential dispersal route for *** objectives of this study were to evaluate the presence and activity of terrestrial mammals in the riparian and non‑riparian zones of ***:Camera traps detected 15 mammalian species(i.e.,14 native and 1 domestic)in the non‑riparian zone,and 12 mammalian species in the riparian zone(i.e.,10 wild and 2 domestic).The riparian corridor was mainly used by opportunistic medium‑sized carnivores,while large carnivores and their potential prey were more frequent in the non‑riparian ***:Our findings suggest terrestrial mammals avoid the use of natural corridors due to the presence of domestic dogs,cattle and humans and look for new dispersal routes to move through their habitat and find the resources they need to *** though some species can use disturbed corridors to move and find resources,they will change their activity patterns to avoid contact with humans and potential threats like *** is,therefore,crucial to identify not one,but several corridors that must be preserved to improve the connectivity of terrestrial mammals in disturbed landscapes.

关键词： Activity Jaguar Cattle Detectability Dog Herbivore Disturbance Prey Relative abundance

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基于金属-有机框架同分异构体构建MOFs相结用以增强CO光还原活性(英文)

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Science China Materials 2024年

作者：黄海波李兰王瑞 ar Mahammed Shaheer 刘天赋刘海雄曹荣 University of Chinese Academy of Sciences Chinese Academy of Sciences College of Materials and Chemistry China Jiliang University State Key Laboratory of Structural Chemistry Fujian Institute of Research on the Structure of Matter Chinese Academy of Sciences School of Environmental Science and Engineering Qingdao University

利用太阳能将CO2光转化为化学燃料是前沿研究的热点.当前,科研的重点在于开发和优化各类光催化材料的性能.异质结构不仅用于增强无机半导体催化剂的活性,而且用于金属-有机框架(MOFs)光催化剂的构建.随着异质结技术的不断进步,新的相结...

利用太阳能将CO2光转化为化学燃料是前沿研究的热点.当前,科研的重点在于开发和优化各类光催化材料的性能.异质结构不仅用于增强无机半导体催化剂的活性,而且用于金属-有机框架(MOFs)光催化剂的构建.随着异质结技术的不断进步,新的相结概念应运而生.尽管关于无机半导体中的相结研究已取得一定进展,但是MOFs相结结构的探索尚处于起步阶段.本文中,我们成功设计并构建了一种具有卓越光催化CO2还原性能的MOFs相结杂化材料.这种材料由具有高度连接性的卟啉配体(TCPP-Ni)与Zr6团簇紧密结合而成,在溶剂热反应条件下, PCN-222-Ni能够快速且均匀地成核.通过精准调控调节剂的用量,我们实现了同分异构体PCN-224-Ni在类似条件下较慢的晶体形成过程.最终制得的P@P杂化材料展现出高表面积、多孔性和卓越的结晶度.由于PCN-222-Ni和PCN-224-Ni之间的带隙匹配,光生载流子的分离和迁移得以促进,从而使P@P杂化材料展现出卓越的光还原CO2性能.这一重大突破不仅标志着MOFs相结结构研究的重大进展,还拓宽了MOFs相结在CO2光转化领域的应用前景.

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以设计构建可持续未来雅加达aruma分层花园

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室内设计与装修 2024年第8期 20-25页

作者： [印度尼西亚]RAD+ar Mario Wibowo(摄影) 西竹(编译) RAD+ar

面对不断上涨的土地价值,aru ma分层花园应运而生。它旨在研究分层设计的发展,即如何在多个租户组成的复合体中创造独特的区域,同时在相对紧凑的空间内,将自然融入建筑环境中。该项目将屋顶、立面、墙体、对角悬挑结构和家具等设计要素... 详细信息

面对不断上涨的土地价值,aru ma分层花园应运而生。它旨在研究分层设计的发展,即如何在多个租户组成的复合体中创造独特的区域,同时在相对紧凑的空间内,将自然融入建筑环境中。该项目将屋顶、立面、墙体、对角悬挑结构和家具等设计要素相融合,将现代设计与商业区域的热带环境相融合,并在建筑和空间中结合自然光线、绿植、自然景观、天然材料和其他感官体验,形成一个和谐的整体。

关键词：自然光线热带环境天然材料感官体验分层设计设计要素悬挑结构自然景观

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