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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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Portable dielectrophoresis for biology:ADEPT facilitates cell trapping,separation,and interactions

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Microsystems & Nanoengineering 2024年第2期10卷 193-205页

作者： Lourdes Albina Nirupa Julius dora Akgül Gowri Krishnan Fabian Falk Jan Korvink Vlad Badilita Department Institute of Microstructure TechnologyKarlsruhe Institute of TechnologyHermann-von-Helmholtz-Platz 1Eggenstein-Leopoldshafen76344Baden-WürttembergGermany

Dielectrophoresis is a powerful and well-established technique that allows label-free,non-invasive manipulation of cells and particles by leveraging their electrical *** practical implementation of the associated electronics and user interface in a biology laboratory,however,requires an engineering background,thus hindering the broader adoption of the *** order to address these challenges and to bridge the gap between biologists and the engineering skills required for the implementation of DEP platforms,we report here a custom-built,compact,universal electronic platform termed ADEPT(adaptable dielectrophoresis embedded platform tool)for use with a simple microfluidic chip containing six *** versatility of the open-source platform is ensured by a custom-developed graphical user interface that permits simple reconfiguration of the control signals to address a wide-range of specific applications:(i)precision positioning of the single bacterium/cell/particle in the micrometer range;(ii)viability-based separation by achieving a 94%efficiency in separating live and dead yeast;(iii)phenotype-based separation by achieving a 96%efficiency in separating yeast and Bacillus subtilis;(iv)cell–cell interactions by steering a phagocytosis process where a granulocyte engulfs *** RGB-S ***,the set of experiments and the platform form a complete basis for a wide range of possible applications addressing various biological questions exploiting the plug-and-play design and the intuitive GUI of ADEPT.

关键词： Together separation separating

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Exploring the Social Impact of the Short-Stay market(SSM)in Regional Areas:An Empirical Study

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Fudan Journal of the Humanities and Social Sciences 2024年第2期17卷 243-277页

作者： Emeka Ndaguba Kerry Brown dora marinova Uma Jogulu School of Business and Law Edith Cowan UniversityPerthAustralia Curtin University Sustainability Policy Institute Curtin UniversityPerthAustralia

The discourse on microentrepreneurs and their involvement in the short stay market (SSM) was non-existent until 2008. While several concepts and constructs have been developed and empirically tested since 2009, many of them relate to economics, leaving the social, cultural, and environmental factors underdeveloped. Thus, this study aimed to fll the gap and identify and assess the social impact of the short-stay market (SSM) in a regional area. The study included 16 face-to-face interview sessions conducted with 18 participants, and the Leximancer software was employed to analyse the data. The study revealed that the social impact on SSM is not generic, rather pluralistic, multidimensional, and dynamic. The study also found that the limitation clause instituted by the council is a direct disconnect between the council and property owners/managers. Furthermore, despite ample opportunities provided by the short-stay market (SSM) in regional areas, encumbrances cannot be overlooked. Therefore, there is a need for a comprehensive approach to understand the social impact on policy frameworks in regional areas.

关键词： Short-stay market Experience economy Long-term rentals Wine economy Regulation

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白云:种桃种李种春风

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婚姻与家庭（家庭教育版） 2024年第2期 48-49页

作者： dora 不详

老师和家长照顾孩子,就像园丁照顾植物,要懂得每个孩子的不同特点,让孩子成为更好的自己。2024年1月19日早8点,位于北京石景山区的一所幼儿园准时开园了。通向幼儿园大门的是一段长约20米的柏油小径,平坦又缓缓有坡度,路两旁是北方冬季... 详细信息

老师和家长照顾孩子,就像园丁照顾植物,要懂得每个孩子的不同特点,让孩子成为更好的自己。2024年1月19日早8点,位于北京石景山区的一所幼儿园准时开园了。通向幼儿园大门的是一段长约20米的柏油小径,平坦又缓缓有坡度,路两旁是北方冬季的植被。

关键词：北京石景山区一所幼儿园北方冬季园丁桃种

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Evaluation of the Reproduction Parameters of “Lohmann Brown” Strain Chickens Fed with Cajanus cajan Leaf Meal in the Republic of Congo

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Open Journal of Animal Sciences 2024年第3期14卷 234-248页

作者： Richard Missoko Mabeki Alexis Jonas Ognika dora Chérita Ekou Nathalie Myreille Ockoyi Parisse Akouango Laboratory of Animal Production and Biodiversity National School of Agronomy and Forestry Marien Ngouabi University Brazzaville Republic of the Congo Department of Animal Production and Health Marien Ngouabi University Brazzaville Republic of the Congo

The objective of this study was to evaluate the reproductive parameters of “Lohmann Brown” strain chickens fed on Cajanus cajan leaves and to assess the viability of the chicks after hatching. 40 hens of the “Lohmann Brown” strain fed on Cajanus cajan leaf flour laid 219 eggs divided into four batches depending on the rate of incorporation of Cajanus cajan leaf flour in the rations (0%, 5%, 10% and 15%) were trained and introduced into the incubator. Results: the incubator indicates a hatching temperature of 38˚C to 37.2˚C and relative humidity of 60% to 70%. Hatching performance shows that: The 15% batch recorded the highest fertility rate 86.95% compared to 26.88% of the control batch. The CC 15% batch recorded the highest hatching rate 36.87. The lowest rate (17.18%) was recorded in the control batch (CC 0%). The highest embryonic mortality rate was recorded in the CC 15% batch. The lowest rate in the CC 10% batch. Concerning unfertilized eggs, the highest rate is 72.20% (CC 0%), and the lowest are (12.03%;57.42% and 66.66%) recorded in CC batches. 15%, CC 5% and CC 10% respectively. For the shell mortality rate, the highest is 18.58% recorded in the CC 15% batch. The lowest shell mortality rate is 2.07%, obtained in the control batch (CC 0%);the dust mortality rate was 0% for all chicks. The study seems to indicate that the incorporation of Cajanus cajan leaf meal up to 15% into the reproduction type ration in hens does not cause any harmful effects on the reproduction performance of laying hens.

关键词： Egg Incubation Hatching Fertility Mortality Viability

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Haplotype-based phylogenetic analysis and population genomics uncover the origin and domestication of sweetpotato

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Molecular Plant 2024年第2期17卷 277-296页

作者： Mengxiao Yan Ming Li Yunze Wang Xinyi Wang M-Hossein Moeinzadeh dora G.Quispe-Huamanquispe Weijuan Fan Yijie Fang Yuqin Wang Haozhen Nie Zhangying Wang Aiko Tanaka Bettina Heider Jan F.Kreuze Godelieve Gheysen Hongxia Wang martin Vingron Ralph Bock Jun Yang Shanghai Key Laboratory of Plant Functional Genomics and Resources Shanghai Chenshan Botanical GardenShanghai 201602China College of Life Sciences Chongqing Normal UniversityChongqing 401331China Biotechnology and Nuclear Technology Research Institute Sichuan Academy of Agricultural SciencesChengdu 610061China College of Life Sciences Shanghai Normal UniversityShanghai 200234China Department of Computational Molecular Biology Max Planck Institute for Molecular GeneticsIhnestraBe 63-7314195 BerlinGermany Department of Biotechnology Ghent University9000 GhentBelgium Guangdong Provincial Key Laboratory of Crops Genetics and Improvement Crop Research InstituteGuangdong Academy of Agricultural SciencesGuangzhou 510640China Graduate School of Bioagricultural Sciences Nagoya UniversityChikusaNagoya 464-8601Japan international Potato Center(CIP) LimaPeru CAS Center for Excellence of Molecular Plant Sciences Institute of Plant Physiology and EcologyChinese Academy of SciencesShanghai 200233China Max-Planck-Institut fur Molekulare Pflanzenphysiologie Am Muhlenberg 114476 Potsdam-GolmGermany

The hexaploid sweetpotato(lpomoea batatas)is one of the most important root crops ***,its genetic origin remains controversial,and its domestication history remains *** this study,we used a range of genetic evidence and a newly developed haplotype-based phylogenetic analysis to identify two probable progenitors of *** diploid progenitor was likely closely related to lpomoea ae-quatoriensis and contributed the B,subgenome,IbT-DNA2,and the lineage 1 type of chloroplast genome to *** tetraploid progenitor of sweetpotato was most likely *** 4x,which donated the B2 subgenome,IbT-DNA1,and the lineage 2 type of chloroplast *** most likely originated from reciprocal crosses between the diploid and tetraploid progenitors,followed by a subsequent whole-genome *** addition,we detected biased gene exchanges between the subgenomes;the rate of B,to B2 subgenome conversions was nearly three times higher than that of B2 to B subgenome *** analyses revealed that genes involved in storage root formation,maintenance of genome stabil-ity,biotic resistance,sugar transport,and potassium uptake were selected during the speciation and domestication of *** study sheds light on the evolution of sweetpotato and paves the way forimprovementofthiscrop.

关键词： sweetpotato origin gene conversion domestication IbT-DNA HPA

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Analysis of Citizen Participation in Urban Planning of Comala,Colima,Mexico-A Secondary Publication

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Journal of World Architecture 2024年第1期8卷 63-75页

作者： Amallinaly GCárdenas Aguilar Peter Chung Alonso Alicia Cuevas Muñiz dora Correa Fuentes Ignacio Barajas Avalos National Technological Institute of Mexico Mexico CityMexico University of Colima Colima 28040Mexico

The objective of this study was to determine the degree of citizen participation in urban planning processes in the municipality of Comala,Colima,Mexico to have a broader vision of the citizens and the environment in which they *** instrument was designed specifically to perform this study and the instrument was validated by calculating Cronbach’s *** results showed that citizens were highly involved in issues concerning their urban environment,and the main problems of the public spaces were also identified.

关键词： Citizen participation Planning Urban development program

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Parent-Reported Reasons for Loss-to-Follow Up in Patients Hospitalized at the Neonatology Unit at Laquintinie

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Open Journal of Pediatrics 2024年第4期14卷 686-699页

作者： Eposse Ekoube Charlotte Puepi Djike Yolande Hassanatou Iyawa Mandeng Ma Linwa Edgar Epée Patricia Mbonjo Bitsie dora Kedy Mangamba Koum Daniele-Christiane Faculty of Medicine and Pharmaceutical Sciences University of Douala Douala Cameroon Paediatric Unit Douala Laquintinie Hospital Douala Cameroon Faculty of Sciences University of Douala Douala Cameroon

Introduction: Despite the known benefits of newborn follow-up clinics, attendance has historically been difficult. Infants with reported follow-up difficulty have a greater incidence of severe sensorimotor and cognitive deficits and poorer access to early intervention programs. Our objective was to determine the parent-reported reasons for loss-to-follow up in patients hospitalised at the neonatology unit of Laquintinie Hospital. Methodology: We carried out a cross-sectional study through phone interviews with parents/caregivers of patients hospitalised at Laquintinie over a 2-year period from 1st January 2021 to 31st December 2022. A non-standardised structured interview guide was used for data collection. Loss-to-follow up referred to absence to at least one visit as recorded in the neonatal follow-up chart. All necessary administrative and ethical considerations were duly respected. Results: Most neonates were born through vaginal delivery (n = 313, 69.45%). The neonates were admitted at a median gestational age of 33 weeks (Q1-Q3;32 - 35) and the median duration of hospitalisation was 12 days (Q1 - Q3;8 - 18). A total of 23 neonates had died at the time of interview giving a mortality rate of 5.1%. The three most reported reasons for loss-to-follow-up was lack of money (n = 310, 68.13%), assumption that follow-up had ended (n = 37, 8.13%), and newborn that died (n = 23, 5.1%). Conclusion: This study highlights the significant impact of financial constraints and absence of a robust follow-up system on poor uptake of neonatal follow-up post-discharge in resource limited settings like Cameroon. Our results serve as advocacy for national health insurance especially in neonates.

关键词： Loss-to-Follow Up Cameroon Neonates

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Palaeoseismic Events in Karst Terrains along the Northern Bulgarian Black Sea Coast

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Acta Geologica Sinica(English Edition) 2001年第3期75卷 308-315页

作者： dora ANGELOVA Geological Institute Bulgarian Academy of Sciences Acad. G. Bonchev St. Bl. 24 1113 Sofia Bulgaria

The study of the palaoseismic events in the karst terrains of the Bulgarian Black Sea coast is a very important up-to-date problem. The investigated region is one of the highest-energy regions in Bulgaria with established and recorded catastrophic historic and contemporary earthquakes. The terrain is subjected to the influence not only of its own earthquake foci but also of those in Romania and Russia. The palaeoearthquakes that caused considerable disturbances in the karst terrains along the Northern Bulgarian Black Sea coast have left significant traces. They caused disturbances in the environment and the relief (rearrangement of the surface and ground water karst basins, partially or entirely collapsed caves, deformed caves, oil, gas and salt intrusions and gravitationally formed caves). The ecological consequences in historic and contemporary aspects were catastrophic. The palaeoseismic dislocations were formed as a result of global, regional and local geodynamic events related with the destruction of the Moezian platform and the regional extension of the Black Sea basin. The time of their display and their spatial interrelations were established as a result of complex investigations accompanied by original documents.

关键词： paleoseismic dislocations Bulgarian Black Sea coast karst natural hazards

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Holistic Disaster Risk Evaluation for the Urban Risk Management Plan of Manizales,Colombia

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International Journal of Disaster Risk Science 2017年第3期8卷 258-269页

作者： martha Liliana Carreno Omar-Darío Cardona Alex H.Barbat dora Catalina Suarez maría del Pilar Perez Lizardo Narvaez Centre Internacional de Metodes Numerics en Enginyeria Universitat Politècnica de Catalunya Instituto de Estudios Ambientales (IDEA) Universidad Nacional de Colombia Sede Manizales INGENIAR Ltda

Disaster risk depends on both the physical vulnerability and a wide range of social, economic, and environmental aspects of a society. For a better risk understanding, a holistic or integrated perspective was considered when risk was assessed for the city of Manizales, Colombia. This assessment accounts not only for the expected physical damage and loss, but also for the socioeconomic vulnerability factors that favor secondorder effects in a disaster. This comprehensive approach allows the identification of different aspects related to physical vulnerability, social fragility, and lack of resilience that can be improved, thus enhancing integrated disaster risk management actions. The outcomes of this comprehensive assessment are currently being used as input to update the disaster risk management plan of Manizales.

关键词： Holistic risk assessment Manizales (Colombia) Probabilistic risk assessment Risk management plan Urban disaster risk index Urban resilience

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