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

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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

Navigating medial patellotibial ligament reconstruction:Clinical perspectives and surgical strategies

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World Journal of Clinical Cases 2025年第1期13卷 6-10页

作者： juan pablo Zicaro Ignacio Garcia-Mansilla Division of Knee Hospital Italiano de Buenos AiresBuenos Aires 1109Argentina

The surgical approach for patellar instability usually refers to reconstruction of the medial patellofemoral ligament associated with an osteotomy of the tibial tuberosity or a trochleoplasty when *** medial patellotibial ligament and the medial patellomeniscal ligament are secondary stabilizers of the *** this,both the medial patellotibial and patellofemoral ligaments aid in patellar rotation and tilt when the knee is flexed beyond 45°.The medial patellotibial ligament plays a particularly important role in the final stages of stretching in extension and between 40 degrees to 90 degrees of *** clinical relevance and surgical indications for medial patellotibial ligament reconstruction associated with medial patellofemoral ligament reconstruction are still *** editorial explores the surgical indications and clinical results for medial patellotibial ligament reconstruction to improve readers’understanding of this technique,especially because reported clinical outcomes have remained sparse.

关键词： Medial patellotibial ligament Patellar instability Reconstruction Surgical

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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改善管理无法拯救墨西哥国有石油公司

商业周刊(中文版) 2025年第3期 26-27页

作者： juan pablo Spinetto 孟洁冰(译) 不详

上次墨西哥国家石油公司的原油产量如此之低,还是吉米·卡特担任美国总统的时代,当时随身听还没有问世。2024年12月,墨西哥国家石油公司的油田曰产量为135万桶,较上年下降了13%,创下1978年11月以来的最低单月产量。即使你把凝析油产量... 详细信息

上次墨西哥国家石油公司的原油产量如此之低,还是吉米·卡特担任美国总统的时代,当时随身听还没有问世。2024年12月,墨西哥国家石油公司的油田曰产量为135万桶,较上年下降了13%,创下1978年11月以来的最低单月产量。即使你把凝析油产量和合作项目的股份计算在内,结果还是会得出同样的结论:这是一家深陷困境的公司,尽管墨西哥前总统安德烈斯·曼努埃尔·洛佩斯·奥夫拉多尔一再吹嘘他的政府如何“拯救”了墨西哥国家石油公司,但这家公司远远没有得到拯救。

关键词：国家石油公司国有石油公司安德烈斯原油产量计算在内合作项目洛佩斯墨西哥

Asymptotic of Eigenvalues and Lattice Points

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Acta Mathematica Sinica,English Series 2006年第6期22卷 1645-1650页

作者： juan pablo PINASCO Instituto de Ciencias Universidad Nacional de General Sarmiento

dimension. elementary domains of In this work we study the spectral counting function for the p-Laplace operator in one We show the existence of a two-term Weyl-type asymptote. The method of proof is rather based on ... 详细信息

关键词： p-Laplacian eigenvalues lattice points

Risk Transfer for Populations in Precarious Urban Environments

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International Journal of Disaster Risk Science 2020年第1期11卷 74-86页

作者： juan pablo Sarmiento Ana María Torres-Munoz Extreme Events Institute/Disaster Risk and Resilience in the Americas(DRRA) Florida International UniversityMiamiFL 33199USA

This study explores risk transfer options that precarious and marginal urban communities could use to protect themselves from future damages and losses generated by socio-natural hazards and disasters at the individual and community levels. The design is framed within an evidence-based disaster risk reduction(DRR) strategy and follows the case study research approach. We analyze the2018 Neighborhood Approach for DRR programming evaluation carried out in four Latin American cities’ informal settlements and review relevant risk transfer experiences aimed at vulnerable populations. We calculate the pure risk premium for the four cases selected, using a previous catastrophe risk assessment for earthquakes and landslides. We propose three risk transfer options based on our analysis:(1) voluntary collective insurance;(2) structural reinforcement with a comprehensive housing insurance;and(3) hybrid parametric insurance. Risk transfer mechanisms conventionally focus on residual risk management. Here, due to the precariousness of the analyzed urban settings, the proposed alternatives go beyond the management of just residual risk to positively impact the beneficiaries’ quality of life and the reduction of the built environment’s physical vulnerability in the short and medium terms. Our study proposes a prospective estimation of future risk despite the limitations of data availability. This study opens a window to new approaches and proposes a systematic process to design DRR policy aimed at the poor and vulnerable strata of society.

关键词： Case study research Catastrophe risk assessment Informal settlements Risk transfer Urban precariousness Urban risk

Myelin lipid deficiency:a new key driver of Alzheimer’s disease

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Neural Regeneration Research 2023年第1期18卷 121-122页

作者： Shulan Qiu juan pablo Palavicini Xianlin Han Barshop Institute for Longevity and Aging Studies Division of DiabetesDepartment of MedicineUniversity of Texas Health Science Center at San AntonioSan AntonioTXUSA

Lipids play essential biological functions that include acting as components of biological membranes,energy storage,signaling,nutrients,transporters,enzyme activators,among *** with the multiple research methods to assess DNA,RNA,and protein content,location,and function in cells,there are relatively fewer methods to study ***,lipid-oriented mechanistic studies remain rare and challenging.

关键词： Alzheimer rare challenging

Self-powered smart patch for sweatconductivity monitoring

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Microsystems & Nanoengineering 2019年第1期5卷 672-681页

作者： Laura Ortega Anna Llorella juan pablo Esquivel Neus Sabate Instituto de Microelectronica de Barcelona IMB-CNM(CSIC)C/del Til·lers.Campus Universitat Autonoma de Barcelona(UAB)08193 BellaterraBarcelonaSpain Catalan Institution for Research and Advanced Studies(ICREA) Passeig Lluís Companys 2308010 BarcelonaSpain

A self-powered skin patch for the measurement of sweat conductivity is *** key component of the patch consists of a paper battery that is activated upon absorption of *** body fluid acts as the battery electrolyte,the conductivity of which has a direct impact on the battery-generated output power and *** particular behaviour enables the operation of a very simple and robust conductivity sensor in direct current mode without needing an external power *** device presented in this paper takes advantage of this new measurement method to develop a sweat patch for screening cystic fibrosis that operates with an extremely simple electronic circuit that minimizes its cost and environmental *** patch provides an unambiguous digital result that can be read in an electrochromic display and yields 95%sensitivity and 100%specificity when tested with artificial eccrine perspiration samples.

关键词： battery conductivity patch

Code interoperability extends the scope of quantum simulations

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npj Computational Materials 2021年第1期7卷 302-311页

作者： Marco Govoni Jonathan Whitmer juan de pablo Francois Gygi Giulia Galli Materials Science Division and Center for Molecular Engineering Argonne National LaboratoryLemontIL 60439USA Department of Chemical and Biomolecular Engineering University of Notre DameNotre DameIN 46556USA Pritzker School of Molecular Engineering University of ChicagoChicagoIL 60637USA Department of Computer Science University of CaliforniaDavisCA 95616USA Department of Chemistry University of ChicagoChicagoIL 60637USA

The functionality of many materials is critically dependent on the integration of dissimilar components and on the interfaces that arise between *** description of such heterogeneous components requires the development and deployment of first principles methods,coupled to appropriate dynamical descriptions of matter and advanced sampling techniques,in order to capture all the relevant length and time scales of importance to the materials’*** is thus essential to build simple,streamlined computational schemes for the prediction and design of multiple properties of broad classes of materials,by developing interoperable codes which can be efficiently coupled to each other to perform complex *** discuss the use of interoperable codes to simulate the structural and spectroscopic characterization of materials,including chemical reactions for catalysis,the description of defects for quantum information science,and heat and charge transport.

关键词： quantum catalysis spectroscopic