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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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Design multifunctional Mg–Zr coatings regulating Mg alloy bioabsorption

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Journal of Magnesium and Alloys 2024年第4期12卷 1461-1478页

作者： Zohra Benzarti Sandesh Itani joséDavid Castro Sandra Carvalho Ana Sofia ramos University of Coimbra CEMMPREARISEDepartment of Mechanical EngineeringRua Luís Reis Santos3030-788CoimbraPortugal Laboratory of Multifunctional Materials and Applications(LaMMA) Department of PhysicsFaculty of Sciences of SfaxUniversity of SfaxSoukra Road km 3.5B.P.1171Sfax3000Tunisia

Magnesium(Mg)alloys are widely used for temporary bone implants due to their favorable biodegradability,cytocompatibility,hemocompatibility,and close mechanical properties to ***,rapid degradation and inadequate strength limit their *** overcome this,the direct current magnetron sputtering technique is employed for surface coating in Mg-based alloys using various zirconium(Zr)*** approach presents a promising strategy for simultaneously improving corrosion resistance,maintaining biocompatibility,and enhancing strength without compromising *** leveraging Mg’s inherent biodegradability,it has the potential to minimize the need for secondary surgeries,thereby reducing costs and *** paper is a systematic study aimed at understanding the corrosion mechanisms of Mg–Zr coatings,denoted Mg-xZr(x=0–5 at.%).Zr-doped coatings exhibited columnar growth leading to denser and refined structures with increasing Zr *** analysis confirmed the presence of the Mg(00.2)basal plane,shifting towards higher angles(1.15°)with 5 at.%Zr doping due to lattice parameter changes(i.e.,decrease and increase of“c”and“a”lattice parameters,respectively).Mg–Zr coatings exhibited“liquidphilic”behavior,while Young’s modulus retained a steady value around 80 GPa across all ***,the hardness has significantly improved across all samples’coating,reaching the highest value of(2.2±0.3)GPa for 5 at.%*** testing in simulated body fluid(SBF)at 37℃ revealed a significant enhancement in corrosion resistance for Mg–Zr coatings containing 1.0–3.4 at.%*** with the 5 at.%Zr coating which exhibited a corrosion rate of 32 mm/year,these coatings displayed lower corrosion rates,ranging from 1 to 12 mm/*** synergistic enhancement in mechanical properties and corrosion resistance,achieved with 2.0–3.4 at.%Zr,suggests potential ability for reducing stress shielding and controlled degradation performance,and consequentl

关键词： Mg-Zr coatings Magnetron sputtering Nanoindentation Corrosion resistance Bone implants

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Electrifying Ba_(0.5)Sr_(0.5)Co_(0.8)Fe_(0.2)O_(3-δ) for focalized heating in oxygen transport membranes

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Journal of Energy Chemistry 2024年第4期91卷 99-110页

作者： Marwan Laqdiem Julio García-Fayos Laura Almar alfonso J.Carrillo Álvaro Represa joséM.López Nieto Sonia Escolástico David Catalán-Martinez jose M.Serra Instituto de Tecnología Química(Universitat Politècnica de València–Consejo Superior de Investigaciones Científicas) Av.Los Naranjos s/nE-46022 ValenciaSpain

Industry decarbonization requires the development of highly efficient and flexible technologies relying on renewable energy resources,especially biomass and solar/wind *** the case of pure oxygen production,oxygen transport membranes(OTMs)appear as an alternative technology for the cryogenic distillation of air,the industrially-established process of producing ***,OTMs could provide oxygen from different sources(air,water,CO_(2),etc.),and they are more flexible in adapting to current processes,producing oxygen at 700^(-1)000℃.Furthermore,OTMs can be integrated into catalytic membrane reactors,providing new pathways for different *** first part of this study was focused on electrification on a traditional OTM material(Ba_(0.5)Sr_(0.5)Co_(0.8)Fe_(0.2)O_(3-δ)),imposing different electric currents/voltages along a capillary *** to the emerging Joule effect,the membrane-surface temperature and the associated O_(2) permeation flux could be ***,the OTM is electrically and locally heated and reaches 900℃on the surface,whereas the surrounding of the membrane was maintained at 650℃.The O_(2)permeation flux reached for the electrified membranes was~3.7 NmL min^(-1)cm^(-2),corresponding to the flux obtained with an OTM non-electrified at 900℃.The influence of depositing a porous Ce_(0.8)Tb_(0.2)O_(2-δ) catalytic/protective layer on the outer membrane surface revealed that lower surface temperatures(830℃)were detected at the same imposed electric ***,the electrification concept was demonstrated in a catalytic membrane reactor(CMR)where the oxidative dehydrogenation of ethane(ODHE)was carried *** reaction is very sensitive to temperature,and here,we demonstrate an improvement of the ethylene yield by reaching moderate temperatures in the reaction chamber while the O_(2) injection into the reaction can be easily fine-tuned.

关键词： Oxygen permeation Oxidative dehydrogenation of ethane Oxygen transport membranes Joule effect Mixed ionic-electronic conductors Catalytic membrane reactors

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Lifestyles of Older Adults in Castilla-La Mancha(Spain):Influence of Sex,Age,and Habitat

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Fudan Journal of the Humanities and Social Sciences 2024年第2期17卷 313-335页

作者： Esther Portal Martínez Juan Lirio Castro David Alonso González joséLuis Gómez ramos University of Castilla-La Mancha Talavera de la ReinaSpain Complutense University MadridSpain

This paper presents the quantitative research results of a comprehensive study titled“Current Profle of Older Adults in Castilla-La Mancha(Spain).”The study aims to understand and describe the characteristics of individuals aged 65 and above within this autonomous region,with a focus on the variables of sex,age,and habitat.A cross-sectional approach was employed,utilizing quantitative methods to collect *** gather information,a customized questionnaire was developed to address the study objectives,covering various aspects such as sociodemographic factors,living conditions,leisure activities,social participation,and cultural *** survey was conducted via telephone,ensuring representation by employing gender quotas,age-group stratifcation,and considerations for habitat size.A representative sample of 1,065 participants was included in the *** fndings reveal a degree of homogeneity in the lifestyles of older adults,with discernible variations infuenced by factors such as sex,habitat,and *** results shed light on the diverse habits and experiences of older adults,emphasizing the signifcance of habitat conditions,social participation,and the aging process.

关键词： Lifestyle habits Older adults Habitat conditions Social participation Aging experience

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Presynaptic endoplasmic reticulum architecture and hereditary spastic paraplegia

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Neural Regeneration Research 2024年第3期19卷 485-486页

作者： Juan joséPérez-Moreno Instituto de Biomedicina de Sevilla(IBiS) Hospital Universitario Virgen Del Rocío/CSIC/Universidad de Sevillaand Departamento de Biología CelularFacultad de BiologíaUniversidad de SevillaSevilleSpain

Hereditary spastic paraplegia(HSP)is a clinically and genetically heterogeneous neurodegenerative disorder,characterized primarily by progressive spasticity and weakness in the lower *** ients can also experience peripheral neuropathy,cognitive impairment,and other neurological *** date,more than 80 genes have been implicated in HSP,encompassing various cellular components,although mutations in genes encoding endoplasmic reticulum(ER)-shaping proteins are the most prevalent(Parodi et al.,2017).ER-shaping proteins are generally known for regulating the tubulation and curvation of the ER,but most of them show additional functions,including fusion of ER tubules,microtubule-severing,ER autophagy,lipid droplet synthesis,contact sites with other organelles(Öztürk et al.,2020).This highlights the complexity of studying the role of these proteins and the link between ER function and HSP.

关键词： reticulum endoplasmic

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Fast synthesis of gold nanoparticles by cold atmospheric pressure plasma jet in the presence of Au^(+) ions and a capping agent

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Plasma Science and Technology 2024年第7期26卷 108-115页

作者： Tatiana HABIB josé Mauricio A.CAIUT Bruno CAILLIER Laboratoire Diagnostics des Plasmas Hors Equilibre(DPHE) Universitéde ToulouseINU ChampollionAlbi 81000France Department of Chemistry The Nanomaterials and Luminescent Systems GroupFaculty of PhilosophyScience and Letters at Ribeirão PretoUniversity of São PauloRibeirão Preto-SP 14040-901Brazil

Homogeneous gold nanoparticles were synthesized under atmospheric pressure using a nonthermal helium plasma jet in a single-step process.A current power supply was used to generate the plasma discharge rich in diverse reactive *** species induce rapid chemical reactions responsible for the reduction of the gold salts upon contact with the liquid *** this study,spherical and monodispersed gold nanoparticles were obtained within 5 min of plasma exposure using a solution containing gold(Ⅲ)chloride hydrate(HAuCl_(4))as a precursor and polyvinylpyrrolidone(PVP)as a capping agent to inhibit *** formation of these metal nanoparticles was initially perceptible through a visible change in the sample's color,transitioning from light yellow to a red/pink *** was subsequently corroborated by UVvis spectroscopy,which revealed an optical absorption in the 520-550 nm range for Au NPs,corresponding to the surface plasmon resonance(SPR)*** investigation into the impact of various parameters,including plasma discharge duration,precursor and capping agent concentrations,was carried out to optimize conditions for the formation of well-separated,spherical gold *** light scattering(DLS)was used to measure the size of these nanoparticles,transmission electron microscopy(TEM)was used to observe their morphology and X-ray diffraction(XRD)was also employed to determine their crystallographic *** results confirm that homogeneous spherical gold nanoparticles with an average diameter of 13 nm can be easily synthesized through a rapid,straightforward,and environmentally friendly approach utilizing a helium atmospheric pressure plasma.

关键词： gold nanoparticles non-thermal plasma jet helium DBD

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Capsule endoscopy and panendoscopy:A journey to the future of gastrointestinal endoscopy

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World Journal of Gastroenterology 2024年第10期30卷 1270-1279页

作者： Bruno Rosa joséCotter Department of Gastroenterology Hospital da Senhora da OliveiraGuimarães 4835-044Portugal Life and Health Sciences Research Institute School of MedicineUniversity of MinhoBraga 4710-057Portugal ICVS/3B's PT Government Associate LaboratoryBraga 4710-057Portugal

In 2000,the small bowel capsule revolutionized the management of patients with small bowel ***,the technological development achieved by the new models of double-headed endoscopic capsules,as miniaturized devices to evaluate the small bowel and colon[pan-intestinal capsule endoscopy(PCE)],makes this non-invasive procedure a disruptive concept for the management of patients with digestive *** technology is expected to identify which patients will require conventional invasive endoscopic procedures(colonoscopy or balloon-assisted enteroscopy),based on the lesions detected by the capsule,i.e.,those with an indication for biopsies or endoscopic *** use of PCE in patients with inflammatory bowel diseases,namely Crohn’s disease,as well as in patients with iron deficiency anaemia and/or overt gastrointestinal(GI)bleeding,after a non-diagnostic upper endoscopy(esophagogastroduodenoscopy),enables an effective,safe and comfortable way to identify patients with relevant lesions,who should undergo subsequent invasive endoscopic *** recent development of magnetically controlled capsule endoscopy to evaluate the upper GI tract,is a further step towards the possibility of an entirely non-invasive assessment of all the segments of the digestive tract,from mouth-to-anus,meeting the expectations of the early developers of capsule endoscopy.

关键词： Non-invasive endoscopy Panendoscopy Magnetically controlled capsule endoscopy Crohn’s disease Digestive bleeding

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Taurine as a possible therapy for immunosenescence and inflammaging

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Cellular & Molecular Immunology 2024年第1期21卷 3-5页

作者： joséM.Izquierdo Centro de Biología Molecular Severo Ochoa(CBMSO).Consejo Superior de Investigaciones Científicas Universidad Autónoma de Madrid(CSIC/UAM)C/Nicolás Cabrera 1Campus de Cantoblanco28049MadridSpain

In their recent Science article,Singh et *** taurine as an endogenously produced anti-inflammatory,anti-immunosenescence,and anti-aging *** authors also show that restoring taurine to its“youthful”levels prevents in... 详细信息

关键词： Taurine inflam

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Tracking the change in Spanish greenhouse gas emissions through an LMDI decomposition model:A global and sectoral approach

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Journal of Environmental Sciences 2024年第5期139卷 114-122页

作者： Paula Fernández González María josé Presno Manuel Landajo Department of Applied Economics University of OviedoAuda del Cristos/n 33011 OviedoSpain

The reduction of GHG emissions to reverse the greenhouse effect is one of the main challenges in this *** this paper we pursue two ***,we analyze the evolution of GHG emissions in Spain in 2008–2018,at both the global and sectoral levels,with the variation in emissions decomposed into a set of determining ***,we propose several actions specifically oriented to more tightly controlling the level of *** results showed a remarkable reduction(18.44%)in GHG emissions,mainly due to the intensity effect,but also to the production-per-capita *** detected somewhat different patterns among the various sectors *** the intensity effect was the most influential one in the agricultural,transport,and others sectors,the production-per-capita effect was predominant in the case of *** carbonization effect was revealed as crucial in the commerce *** above findings highlight the importance of the energy efficiency measures taken in recent years in the Spanish economy,also pointing to the need to deepen those strategies and to propose new measures that entail greater efficiency in *** efforts in areas like innovation,R&D,diffusion of more eco-friendly technologies,and a greater use of greener energies all prove to be essential reduction actions to fight the greenhouse effect.

关键词： LMDI Decomposition Spain GHG emissions

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Flexible neural probes:a review of the current advantages,drawbacks,and future demands

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Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2024年第2期25卷 153-167页

作者： Sara PIMENTA Joao R.FREITAS joséH.CORREIA CMEMS-UMinho University of MinhoGuimarães4800-058Portugal LABBELS-Associate Laboratory Braga/GuimarãesPortugal

Brain diseases affect millions of people and have a huge social and economic *** use of neural probes for studies in animals has been the main approach to increasing knowledge about neural network ***,neuroscientists are trying to develop new and more effective therapeutic approaches to treating neurological *** implementation of neural probes with multifunctionalities(electrical,optical,and fluidic interactions)has been increasing in the last few years,leading to the creation of devices with high temporal and spatial *** the applicability of,and elements integrated into,neural probes has also led to the necessity to create flexible interfaces,reducing neural tissue damage during probe implantation and increasing the quality of neural acquisition *** this paper,we review the fabrication,characterization,and validation of several types of flexible neural probes,exploring the main advantages and drawbacks of these ***,future developments and applications are ***,this review aims to present the currently available flexible devices and future appropriate avenues for development as possible guidance for future engineered devices.

关键词： Brain knowledge Flexible interface Multifunctional probe

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