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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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Prevalence and ecological factors affecting the distribution of plant-parasitic nematodes in Prunus groves in Spain

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Journal of Integrative Agriculture 2024年第2期23卷 566-589页

作者： Ilenia Clavero-Camacho Antonio Archidona-Yuste Carolina Cantalapiedra-Navarrete pablo Castillo juan Emilio Palomares-Rius Institute for Sustainable Agriculture(IAS) Spanish National Research Council(CSIC)Córdoba 14004Spain Andalusian Institute of Agricultural and Fisheries Research and Training(IFAPA) Centro Alameda del ObispoCórdoba 14004Spain

A wide survey was conducted to study plant-parasitic nematodes(PPNs)associated with Prunus groves in *** research aimed to determine the prevalence and distribution of PPNs in Prunus groves,as well as the influence of explanatory variables describing soil,climate and agricultural management in structuring the variation of PPNs community composition.A total of 218 sampling sites were surveyed and 84 PPN species belonging to 32 genera were identified based of an integrative taxonomic *** species considered as potential limiting factors in Prunus production,such as Meloidogyne arenaria,***,***,Pratylenchus penetrans and ***,were identified in this *** soil physico-chemical(C,Mg,N,Na,OM,P,pH and clay,loamy sand and sandy loam texture classes),four climate(Bio04,Bio05,Bio13 and Bio14)and four agricultural management variables(grove-use history less than 10 years,irrigation,apricot seedling rootstock,and Montclar rootstock)were identified as the most influential variables driving spatial patterns of PPNs *** particular,younger plantations showed higher values for species richness and diversity indices than groves cultivated for more than 20 years with Prunus *** study increases the knowledge of the distribution and prevalence of PPNs associated with Prunus rhizosphere,as well as on the influence of explanatory variables driving the spatial structure PPNs communities,which has important implications for the successful design of sustainable management strategies in the future in this agricultural system.

关键词： nematodes Meloidogyne Pratylenchus Paratylenchus rootstock distribution soil grove-use almond peach

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Quality evaluation of Nothofagus pumilio seeds linked to forest management and climatic events

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Ecological Processes 2024年第1期13卷 98-107页

作者： Julian Rodríguez-Souilla Jimena E.Chaves María Vanessa Lencinas juan Manuel Cellini Fidel A.Roig pablo L.Peri Guillermo Martinez Pastur Laboratorio de Recursos Agroforestales Centro Austral de Investigaciones Científicas (CADIC) Consejo Nacional de Investigaciones Científicas y Técnicas(CONICET ) Laboratorio de Investigaciones en Maderas (LIMAD) Universidad Nacional de la Plata (UNLP) Instituto Argentino de Nivología Glaciología y Ciencias Ambientales (IAN-IGLA) Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET ) Instituto Nacional de Tecnología Agropecuaria (INTA) Universidad Nacional de la Patagonia Austral (UNPA) Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET )

Background Forest ecosystems undergo significant transformations due to harvesting and climate fluctuations, emphasizing the critical role of seeding in natural regeneration and long-term structural preservation. Climate change further amplifies these dynamics, affecting phenology across species and regions. In Tierra del Fuego(Argentina), Nothofagus pumilio(lenga) forests represent the most important timber resource, and it is managed through different silvicultural strategies. This species demonstrates notable post-disturbance regeneration, yet seed fall exhibits signifi-cant variability, leading to variations in seed quality(e.g., viability). This study aims to assess fluctuations in N. pumilio seed quality, determine how it varies concerning forest management strategies, annual productivity, and the co-occurrence of climatic phenomena including El Ni?o-Southern Oscillation(ENSO) and the Southern Annular Mode(SAM).Results Viable seeds represented 18.4% of the total, notably higher in unharvested than in managed areas. Con-versely, empty seeds were more prevalent in harvested areas(> 75%). Seed quality exhibited significant differences across silvicultural treatments, except for insect-predated seeds, which had similar proportions across all areas, though dispersed retention showed higher predation. When considering years with varying production levels, high-production years favoured full and viable seeds, particularly in unharvested forests and aggregated retention, while low-production years saw reduced viability across all treatments. Quadratic models revealed that viability increased with seed production, where unharvested forests achieved the highest values. Climate variability influenced seed proportions, where ENSO+/SAM+ promoting more full and viable seeds, while ENSO–/SAM+ favoured non-predated seeds, especially in unharvested *** Seed quality varies among treatments and years with different levels of seeding. Variations in seed qual-ity, l

关键词： Forest management Seeding Climate change Extreme event Patagonia

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Promotion of structural plasticity in area V2 of visual cortex prevents against object recognition memory deficits in aging and Alzheimer's disease rodents

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Neural Regeneration Research 2024年第8期19卷 1835-1841页

作者： Irene Navarro-Lobato Mariam Masmudi-Martín Manuel F.López-Aranda juan F.López-Téllez Gloria Delgado pablo Granados-Durán Celia Gaona-Romero Marta Carretero-Rey Sinforiano Posadas María E.Quiros-Ortega Zafar U.Khan Laboratory of Neurobiology Centro de Investigaciones Médico Sanitarias(CIMES)University of MalagaMalagaSpain Department of Medicine Faculty of MedicineUniversity of MalagaMalagaSpain Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas(CIBERNED) Institute of Health Carlos IIIMadridSpain the Donders Institute for Brain Cognition and Behaviour Radboud UniversityNijmegenThe Netherlands the Brain Metastasis Group National Cancer Research Centre(CNIO)MadridSpain the Department of Neurobiology University of California-Los AngelesLos AngelesCAUSA

Memory deficit,which is often associated with aging and many psychiatric,neurological,and neurodegenerative diseases,has been a challenging issue for *** till now,all potential drug candidates have failed to produce satisfa ctory ***,in the search for a solution,we found that a treatment with the gene corresponding to the RGS14414protein in visual area V2,a brain area connected with brain circuits of the ventral stream and the medial temporal lobe,which is crucial for object recognition memory(ORM),can induce enhancement of *** this study,we demonstrated that the same treatment with RGS14414in visual area V2,which is relatively unaffected in neurodegenerative diseases such as Alzheimer s disease,produced longlasting enhancement of ORM in young animals and prevent ORM deficits in rodent models of aging and Alzheimer’s ***,we found that the prevention of memory deficits was mediated through the upregulation of neuronal arbo rization and spine density,as well as an increase in brain-derived neurotrophic factor(BDNF).A knockdown of BDNF gene in RGS14414-treated aging rats and Alzheimer s disease model mice caused complete loss in the upregulation of neuronal structural plasticity and in the prevention of ORM *** findings suggest that BDNF-mediated neuronal structural plasticity in area V2 is crucial in the prevention of memory deficits in RGS14414-treated rodent models of aging and Alzheimer’s ***,our findings of RGS14414gene-mediated activation of neuronal circuits in visual area V2 have therapeutic relevance in the treatment of memory deficits.

关键词： behavioral performance brain-derived neurotrophic factor cognitive dysfunction episodic memory memory circuit activation memory deficits memory enhancement object recognition memory prevention of memory loss regulator of G protein signaling

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墨西哥首位女总统将面临两难境地

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商业周刊（中文版） 2024年第9期 24-25页

作者： juan pablo Spinetto 杨飞(译) 不详

她的前任和支持者要求保持政策的连续性,而墨西哥又需要变革,她如何在二者之间保持平衡。正如预期的那样,克劳迪娅·辛鲍姆(Claudia Sheinbaum)当选墨西哥下一任总统。她在6月2日取得的压倒性胜利具有多方面的历史意义:首先,她将成为这... 详细信息

她的前任和支持者要求保持政策的连续性,而墨西哥又需要变革,她如何在二者之间保持平衡。正如预期的那样,克劳迪娅·辛鲍姆(Claudia Sheinbaum)当选墨西哥下一任总统。她在6月2日取得的压倒性胜利具有多方面的历史意义:首先,她将成为这个传统大男子主义国家的第一位女性领导人,给数百万仍在艰难应对日常障碍追逐目标和梦想的女性带来了希望。这位前墨西哥城市长还获得了自墨西哥开始实行竞争性选举以来最高比率的选票,从而使她获得了最强有力的授权。

关键词：竞争性选举墨西哥城两难境地连续性支持者

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Influence of Angiotensin II on α₁-Adrenergic Receptors Function in Rat Aorta and Expression in Vascular Smooth Muscle Cells

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Journal of Biosciences and Medicines 2024年第4期12卷 123-134页

作者： Itzell Alejandrina Gallardo-Ortíz juan pablo de Jesús Benítez-Garrido Santiago C. Sigrist-Flores juan Javier López-Guerrero Enrique Hong Rafael Villalobos-Molina Unidad de Biomedicina Facultad de Estudios Superiores Iztacala Universidad Nacional Aut&#243noma de M&#233xico Tlalnepantla M&#233xico Carrera de Enfermerí a Facultad de Estudios Superiores Iztacala Universidad Nacional Aut&#243noma de M&#233xico Tlalnepantla M&#233xico Departamento de Farmacobiologí a Centro de Investigaci&#243n and de Estudios Avanzados-IPN Ciudad de M&#233xico M&#233xico Carrera de Mé dico Cirujano Facultad de Estudios Superiores Iztacala Universidad Nacional Aut&#243noma de M&#233xico Tlalnepantla M&#233xico

Angiotensin II (Ang II) is the main mediator of the Renin-Angiotensin-System acting on AT1 and other AT receptors. It is regarded as a pleiotropic agent that induces many actions, including functioning as a growth factor, and as a contractile hormone, among others. The aim of this work was to examine the impact of Ang II on the expression and function of α1-adrenergic receptors (α1-ARs) in cultured rat aorta, and aorta-derived smooth muscle cells. Isolated Wistar rat aorta was incubated for 24 h in DMEM at 37˚C, then subjected to isometric tension and to the action of added norepinephrine, in concentration-response curves. Ang II was added (1 × 10−5 M), and in some experiments, 5-Methylurapidil (α1A-AR antagonist), AH11110A (α1B-AR antagonist), or BMY-7378 (α1D-AR antagonist), were used to identify the α1-AR involved in the response. Desensitization of the contractile response to norepinephrine was observed due to incubation time, and by the Ang II action. α1D-AR was protected from desensitization by BMY-7378;while RS-100329 and prazosin partially mitigated desensitization. In another set of experiments, isolated aorta-derived smooth muscle cells were exposed to Ang II and α1-ARs proteins were evaluated. α1D-AR increased at 30 and 60 min post Ang II exposure, the α1A-AR diminished from 1 to 4 h, while α1B-AR remained unchanged over 24 h of Ang II exposure. Ang II induced an increase of α1D-AR at short times, and BMY-7378 protected α1D-AR from desensitization.

关键词： Angiotensin II α1D-AR α1-AR Expression Rat aorta Smooth Muscle Cells

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Generation of lossy mode resonances(LMR)using perovskite nanofilms

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Opto-Electronic Advances 2024年第2期7卷 33-40页

作者： Dayron Armas Ignacio R.Matias M.Carmen Lopez-Gonzalez Carlos Ruiz Zamarreño pablo Zubiate Ignacio del Villar Beatriz Romero Electrical Electronic and Communications Engineering DepartmentPublic University of NavarraPamplona 31006Spain Institute of Smart Cities(ISC) Public University of NavarraPamplona 31006Spain Experimental Science and Technology School Rey Juan Carlos UniversityMostoles 28933Spain

The results presented here show for the first time the experimental demonstration of the fabrication of lossy mode resonance(LMR) devices based on perovskite coatings deposited on planar waveguides. Perovskite thin films have been obtained by means of the spin coating technique and their presence was confirmed by ellipsometry, scanning electron microscopy, and X-ray diffraction testing. The LMRs can be generated in a wide wavelength range and the experimental results agree with the theoretical simulations. Overall, this study highlights the potential of perovskite thin films for the development of novel LMR-based devices that can be used for environmental monitoring, industrial sensing, and gas detection, among other applications.

关键词： perovskite thin films slab waveguide lossy mode resonance

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Effect of Aspergillus niger prolyl endopeptidase in patients with celiac disease on a long-term gluten-free diet

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World Journal of Gastroenterology 2024年第11期30卷 1545-1555页

作者： juan pablo Stefanolo Verónica Segura Martina Grizzuti Abel Heredia Isabel Comino Ana Florencia Costa Roberto Puebla María Paz Temprano Sonia Isabel Niveloni Gabriel de Diego María E Oregui Edgardo Gustavo Smecuol Mauricio C de Marzi Elena F Verdú Carolina Sousa Julio César Bai Small Bowel Section Department of MedicineGastroenterology Hospital of Buenos Aires“Dr.C.Bonorino Udaondo”Buenos Aires 1264Argentina Department of Microbiology and Parasitology Faculty of PharmacyUniversity of SevilleSeville 41080Spain Department of Medicine Dr.C.Bonorino Udaondo Gastroenterology HospitalBuenos Aires 1264Argentina Basic and Applied Research Group in Immunology and Bioactives(GIBAIB) Institute of Ecology and Sustainable Development(INEDES)National University of LujanLuján 6700Buenos AiresArgentina Department of Medicine Farncombe Family Digestive Health Research InstituteMcMaster UniversityHamilton L8S 4L8OntarioCanada Facultad de Medicina Universidad del SalvadorBuenos Aires C1051ABBArgentina

BACKGROUND The gluten-free diet(GFD)has limitations,and there is intense research in the development of adjuvant *** To examine the effects of orally administered Aspergillus niger prolyl endopeptidase protease(AN-PEP)on inadvertent gluten exposure and symptom prevention in adult celiac disease(CeD)patients following their usual *** This was an exploratory,double-blind,randomized,placebo-controlled trial that enrolled CeD patients on a long-term *** a 4-wk run-in period,patients were randomized to 4 wk of two AN-PEP capsules(GliadinX;AVI Research,LLC,United States)at each of three meals per day or *** endpoints were:(1)Average weekly stool gluten immunogenic peptides(GIP)between the run-in and end of treatments and between AN-PEP and placebo;(2)celiac symptom index(CSI);(3)CeD-specific serology;and(4)quality of *** samples were collected for GIP testing by ELISA every Tuesday and Friday during run-ins and *** Forty patients were randomized for the intention-to-treat analysis,and three were excluded from the per-protocol ***,628/640(98.1%)stool samples were *** was undetectable(0.32μg/g)to potentially cause mucosal *** GIP concentration in the AN-PEP arm was 44.7%lower than in the run-in ***-third of patients exhibiting GIP>0.08μg/g during run-in had lower or undetectable GIP after AN-PEP *** with the run-in period,the proportion of symptomatic patients(CSI>38)in the AN-PEP arm was significantly lower(P<0.03).AN-PEP did not result in changes in specific *** This exploratory study conducted in a real-life setting revealed high adherence to the *** AN-PEP treatment did not significantly reduce the overall GIP stool ***,given the observation of a significantly lower prevale

关键词： Celiac disease Aspergillus niger prolyl endoprotease Gluten immunogenic peptides Trial Symptoms Real-life trial

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Inflammasome links traumatic brain injury, chronic traumatic encephalopathy, and Alzheimer's disease

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Neural Regeneration Research 2025年第6期20卷 1644-1664页

作者： Gabriela Seplovich Yazan Bouchi juan pablo de Rivero Vaccari Jennifer C.Munoz Pareja Andrew Reisner Laura Blackwell Yehia Mechref Kevin K.Wang J.Adrian Tyndall Binu Tharakan Firas Kobeissy Department of Surgery Morehouse School of MedicineAtlantaGAUSA Department of Neurobiology Center for NeurotraumaMultiomics&Biomarkers(CNMB)Neuroscience InstituteMorehouse School of MedicineAtlantaGAUSA Department of Neurological Surgery and the Miami Project to Cure Paralysis University of Miami Miller School of MedicineMiamiFLUSA Division of Pediatric Critical Care Department of PediatricsUniversity of Miami Miller School of MedicineMiamiFLUSA Department of Pediatrics Emory UniversityAtlantaGAUSA Department of Neurosurgery Children’s Healthcare of AtlantaAtlantaGAUSA Department of Chemistry and Biochemistry Texas Tech UniversityLubbockTXUSA Morehouse School of Medicine AtlantaGAUSA

Traumatic brain injury, chronic traumatic encephalopathy, and Alzheimer's disease are three distinct neurological disorders that share common pathophysiological mechanisms involving neuroinflammation. One sequela of neuroinflammation includes the pathologic hyperphosphorylation of tau protein, an endogenous microtubule-associated protein that protects the integrity of neuronal cytoskeletons. Tau hyperphosphorylation results in protein misfolding and subsequent accumulation of tau tangles forming neurotoxic aggregates. These misfolded proteins are characteristic of traumatic brain injury, chronic traumatic encephalopathy, and Alzheimer's disease and can lead to downstream neuroinflammatory processes, including assembly and activation of the inflammasome complex. Inflammasomes refer to a family of multimeric protein units that, upon activation, release a cascade of signaling molecules resulting in caspase-induced cell death and inflammation mediated by the release of interleukin-1β cytokine. One specific inflammasome, the NOD-like receptor protein 3, has been proposed to be a key regulator of tau phosphorylation where it has been shown that prolonged NOD-like receptor protein 3 activation acts as a causal factor in pathological tau accumulation and spreading. This review begins by describing the epidemiology and pathophysiology of traumatic brain injury, chronic traumatic encephalopathy, and Alzheimer's disease. Next, we highlight neuroinflammation as an overriding theme and discuss the role of the NOD-like receptor protein 3 inflammasome in the formation of tau deposits and how such tauopathic entities spread throughout the brain. We then propose a novel framework linking traumatic brain injury, chronic traumatic encephalopathy, and Alzheimer's disease as inflammasomedependent pathologies that exist along a temporal continuum. Finally, we discuss potential therapeutic targets that may intercept this pathway and ultimately minimize long-term neurological decline.

关键词： Alzheimer's disease caspase-1 chronic traumatic encephalopathy inflammasomes neurodegeneration neuroinflammation NLRP1 NLRP3 pyroptosis tauopathy traumatic brain injury

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球腔内低雷诺数流体中颗粒输运研究进展

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力学学报 2024年第5期56卷 1284-1296页

作者：孙壮陈高峰胡安˙德˙巴勃罗蒋玺恺中国科学院力学研究所非线性力学国家重点实验室北京100190 中国科学院大学工程科学学院北京100049 芝加哥大学普利兹克分子工程学院美国芝加哥60637 阿贡国家实验室材料科学部美国莱蒙特60439

受限环境下低雷诺数流体中的颗粒输运与生物、医药、化工和能源等应用密切相关.近年来,球腔内低雷诺数流体中的颗粒输运引起了广泛关注,它在细胞内生命活动和微流控封装技术中发挥着关键作用.为了掌握颗粒输运规律、揭示微观力学机理,... 详细信息

受限环境下低雷诺数流体中的颗粒输运与生物、医药、化工和能源等应用密切相关.近年来,球腔内低雷诺数流体中的颗粒输运引起了广泛关注,它在细胞内生命活动和微流控封装技术中发挥着关键作用.为了掌握颗粒输运规律、揭示微观力学机理,各国学者进行了广泛的理论、数值和实验研究,取得了一系列成果.本文将梳理当前的研究进展,分别从理论模型、数值模拟和实验研究三方面,介绍关于球腔内低雷诺数流体中颗粒输运的重要工作.理论模型方面,主要工作包括刚性无滑移壁面、边界滑移和可变形壁面等情况下单个及多个颗粒输运的研究;数值模拟方面,重要工作包括模拟不同形状颗粒在静止与旋转球腔内的输运,研究颗粒的水动力迁移率与运动轨迹;实验研究方面,相关工作包含水液滴内颗粒三维轨迹、扩散系数的观测,以及利用球腔内颗粒布朗运动来计算受限环境性质的相关研究.通过总结相关成果,旨在为微纳尺度流动与颗粒输运领域的专家学者提供参考.

关键词：低雷诺数流体颗粒输运限域效应

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