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Fabry Disease: Update, Focusing on Heart Disease by Multimodal Imaging

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World Journal of Cardiovascular Diseases 2024年第6期14卷 351-362页

作者： Adrian Espejel-Guzman Emily Rodríguez Valente Fernandez-Badillo Javier Serrano-Roman aldo cabello-ganem Alexis Daniel Aparicio-Ortiz Alberto Ramon-Rios Mariali Palacios-Cruz Nilda Espinola-Zavaleta Department of Nuclear Cardiology. National Institute of Cardiology Ignacio Chavez Mexico City Mexico ABC Medical Center IAP Department of Echocardiography Mexico City Mexico

Fabry disease (FD) is a rare X-linked lysosomal accumulation disorder caused by a deficiency in the enzyme alpha-galactosidase A (Gal A), resulting in excessive storage of glycosphingolipids, particularly globotriaosylceramide (Gb3). This leads to cellular dysfunction in various organs, with cardiovascular compromise being the major cause of morbidity and mortality. This study aimed to provide a comprehensive overview of FD focusing on its genetic, epidemiological, clinical, diagnostic, and therapeutic aspects. This study explored the genetic mutations associated with FD, its epidemiology, clinical phenotypes, cardiac manifestations, diagnostic approaches, and current treatment options. Background: FD is caused by mutations in GLA on the X chromosome, with over 1000 identified variants. Neonatal screening and specific studies have shown an increased incidence of FD. The clinical presentation varies between classic and late phenotypes, with cardiac involvement being a major concern, particularly in late-onset FD. Purpose: This study aimed to summarize the current knowledge on FD, emphasizing cardiac involvement, diagnostic modalities, and treatment options. Methods: A literature review of relevant studies on FD, including genetics, epidemiology, clinical presentation, diagnostic methods, and treatment options, was conducted. Results: Cardiac manifestations of FD included left ventricular hypertrophy (LVH), heart failure, arrhythmias, and sudden death. Diagnostic approaches such as electrocardiography, echocardiography, and cardiac magnetic resonance imaging play crucial roles in the early detection and monitoring of cardiac involvement. Enzyme replacement therapy (ERT) and emerging treatments have shown promise in managing FD, although challenges remain. Conclusions: FD remains a challenging condition in cardiology, with under-diagnosis being a concern. Early detection and specific therapy are essential to improve patient outcomes. Echocardiography and cardiac MRI ar

关键词： Fabry Disease Hypertrophic Cardiomyopathy Echocardiography Cardiac Magnetic Resonance Imaging Enzyme Replacement Therapy

Long Term Follow-Up of Cardiotoxicity in Breast Cancer Treatment: A Case Report

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World Journal of Cardiovascular Diseases 2023年第3期13卷 130-137页

作者： Jose Luis Siller-Nava Adrian Espejel-Guzman Javier Serrano-Roman aldo cabello-ganem Alexis D. Aparicio Ortiz Nilda Espinola-Zavaleta Department of Nuclear Cardiology National Institute of Cardiology Ignacio Chavez Mexico City Mexico Mexican Social Security Institute IMSS Mexico City Mexico Department of Echocardiography ABC Medical Center I.A.P. Mexico City Mexico

Background: Cardiac toxicity is currently defined as a symptomatic decrease in Left Ventricular Ejection Fraction (LVEF) of more than 5% or an asymptomatic decrease of at least 10% to a value of under 50% in repeated evaluations on conventional transthoracic echocardiogram (TTE), as well as a Global Longitudinal Strain (GLS) value Aims: To highlight using GLS rather than modified Simpson 2D-LVEF for the evaluation of long-term cardiotoxicity. Case Presentation: The case concerns a 73-year-old female patient with a history of breast cancer chemotherapy and anthracyclines-based therapy who presented symptoms of late cardiac toxicity related to the chemotherapeutic treatment. In the following years, the patient remained asymptomatic with a 2D-LVEF of 48%, dilation of the left atrium was found, and the reservoir phase strain was severely decreased. Conclusion: The preferred method for evaluating cardiovascular complications associated with chemotherapy is the TTE, which is performed prior to the start of treatment, during therapy, and in the follow-up. Myocardial deformation as a predictor of cardiotoxicity allows the identification of subclinical heart failure.

关键词： Cardiotoxicity Breast Cancer Global Longitudinal Strain Left Ventricular Ejection Fraction Heart Failure

A novel encoding mechanism for particle physics

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Nuclear Science and Techniques 2024年第8期35卷 153-166页

作者： Zhi‑Guang Tan Sheng‑Jie Wang You‑Neng Guo Hua Zheng aldo Bonasera School of Electronic Information and Electrical Engineering Changsha UniversityChangsha 410003China School of Physics and Information Technology Shaanxi Normal UniversityXi’an 710119China Key Laboratory of Quark and Lepton Physics(MOE) Central China Normal UniversityWuhan 430079China Cyclotron Institute Texas A&M UniversityCollege StationTX 77843USA Laboratori Nazionali del Sud INFN95123 CataniaItaly

This study proposes a novel particle encoding mechanism that seamlessly incorporates the quantum properties of particles,with a specific emphasis on constituent *** primary objective of this mechanism is to facilitate the digital registration and identification of a wide range of particle *** design ensures easy integration with different event generators and digital simulations commonly used in high-energy ***,this innovative framework can be easily expanded to encode complex multi-quark states comprising up to nine valence quarks and accommodating an angular momentum of up to 99/*** versatility and scalability make it a valuable tool.

关键词： Multi-quark state Encoding mechanism Constituent quark Particle physics

Sol-gel derived B_(2)O_(3)-CaO borate bioactive glasses with hemostatic,antibacterial and pro-angiogenic activities

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Regenerative Biomaterials 2024年第1期3卷 108-118页

作者： Kai Zheng Faina Bider Mahshid Monavari Zhiyan Xu Christina Janko Christoph Alexiou Ana M.Beltran aldo R.Boccaccini Jiangsu Province Engineering Research Center of Stomatological Translational Medicine College of StomatologyNanjing Medical UniversityNanjing 210029China Jiangsu Key Laboratory of Oral Diseases Nanjing Medical UniversityNanjing 210029China Institute of Biomaterials University of Erlangen-Nuremberg91058 ErlangenGermany Department of Oto-Rhino-Laryngology Head and Neck SurgerySection of Experimental Oncology and Nanomedicine(SEON)Else Kroener-Fresenius-Stiftung ProfessorshipUniversitaetsklinikum Erlangen91058 ErlangenGermany Departamento de Ingenier�ıa y Ciencia de los Materiales y del Transporte Escuela Politecnica

Sol-gel borate bioactive glasses(BGs)are promising ion-releasing biomaterials for wound healing ***,we report the synthesis of a series of binary B_(2)O_(3)-CaO borate BGs(CaO ranging from 50 to 90mol%)using a sol-gel-based *** influence of CaO content in B_(2)O_(3)-CaO borate BG on morphology,structure and ion release behavior was investigated in *** dissolution(ion release)and crystallization could be observed in borate BGs when CaO content increased,while the morphology was not significantly altered by increasing CaO *** results evidenced that the ion release behavior of borate BGs could be tailored by tuning the B_(2)O_(3)/CaO molar *** also evaluated the in vitro cytotoxicity,hemostatic,antibacterial and angiogenic activities of borate *** was validated for all borate ***,borate BGs exhibited composition-dependent hemostatic,antibacterial and angiogenic ***,higher contents of Ca in borate BGs facilitated hemostatic activity,while higher contents of B_(2)O_(3) were beneficial for pro-angiogenic *** synthesized sol-gel-derived borate BGs are promising materials for developing advanced wound healing dressings,given their fast ion release behavior and favorable hemostatic,antibacterial and angiogenic activities.

关键词： borate glasses sol-gel processing glass composition wound healing

Optimizing nutrition in hepatic cirrhosis:A comprehensive assessment and care approach

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World Journal of Gastroenterology 2024年第10期30卷 1313-1328页

作者： Osvely Mendez-Guerrero Anaisa Carranza-Carrasco Luis Alberto Chi-Cervera aldo Torre Nalu Navarro-Alvarez Department of Gastroenterology Instituto Nacional de Ciencias Médicas y Nutrición Salvador ZubiránMexico City 14080Mexico Clínica de Especialidades Gastrointestinales y Hepáticas Hospital Star MedicaMerida 97133YucatanMexico Molecular Biology Universidad Panamericana School of MedicineCampus MéxicoMexico City 03920Mexico Department of Surgery University of Colorado Anschutz Medical CampusDenverCO 80045United States

Cirrhosis is considered a growing cause of morbidity and mortality,which represents a significant public health ***,there is no effective treatment to reverse *** primarily centers on addressing the underlying liver condition,monitoring,and managing portal hypertension-related complications,and evaluating the potential for liver transplantation in cases of decompensated cirrhosis,marked by rapid progression and the emer-gence of complications like variceal bleeding,hepatic encephalopathy,ascites,malnutrition,and ***,a prevalent complication across all disease stages,is often underdiagnosed in cirrhosis due to the complexities of nutritional assessment in patients with fluid retention and/or obesity,despite its crucial impact on *** emphasis has been placed on the collaboration of nutritionists within hepatology and Liver transplant teams to deliver compre-hensive care,a practice that has shown to improve *** review covers appropriate screening and assessment methods for evaluating the nutritional status of this population,diagnostic approaches for malnutrition,and context-specific nutrition *** also discusses evidence-based recommendations for supplementation and physical exercise,both essential elements of the standard care provided to cirrhotic patients.

关键词： Cirrhosis Nutritional diagnosis Treatment Diet Guidelines

Metal-Halide Perovskite Submicrometer-Thick Films for Ultra-Stable Self-Powered Direct X-Ray Detectors

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Nano-Micro Letters 2024年第9期16卷 410-431页

作者： Marco Girolami Fabio Matteocci Sara Pettinato Valerio Serpente Eleonora Bolli Barbara Paci Amanda Generosi Stefano Salvatori aldo Di Carlo Daniele M.Trucchi CNR‑ISM Consiglio Nazionale delle RicercheIstituto di Struttura della MateriaSede Secondaria di MontelibrettiDiaTHEMA LabStrada Provinciale 35D900010 MontelibrettiRomeItaly CHOSE–Centre for Hybrid and Organic Solar Energy Department of Electronic EngineeringUniversity of Rome“Tor Vergata”Via del Politecnico 100133 RomeItaly Faculty of Engineering Universita degli Studi Niccolo CusanoVia don Carlo Gnocchi 300166 RomeItaly SpecXLab CNR‑ISMConsiglio Nazionale Delle RicercheIstituto di Struttura Della MateriaArea della Ricerca di Tor VergataVia del Fosso del Cavaliere 10000133 RomeItaly

Metal-halide perovskites are revolutionizing the world of X-ray detectors,due to the development of sensitive,fast,and cost-effective ***-powered operation,ensuring portability and low power consumption,has also been recently demonstrated in both bulk materials and thin ***,the signal stability and repeatability under continuous X-ray exposure has only been tested up to a few hours,often reporting degradation of the detection *** it is shown that self-powered direct X-ray detectors,fabricated starting from a FAPbBr_(3)submicrometer-thick film deposition onto a mesoporous TiO_(2)scaffold,can withstand a 26-day uninterrupted X-ray exposure with negligible signal loss,demonstrating ultra-high operational stability and excellent *** structural modification is observed after irradiation with a total ionizing dose of almost 200 Gy,revealing an unexpectedly high radiation hardness for a metal-halide perovskite thin *** addition,trap-assisted photoconductive gain enabled the device to achieve a record bulk sensitivity of 7.28 C Gy^(−1)cm^(−3)at 0 V,an unprecedented value in the field of thin-film-based photoconductors and photodiodes for“hard”***,prototypal validation under the X-ray beam produced by a medical linear accelerator for cancer treatment is also introduced.

关键词： Metal-halide perovskite thin films Direct X-ray detectors Self-powered devices Operational stability Medical linear accelerator

Testosterone replacement therapy and vascular thromboembolic events: a systematic review and meta-analysis

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Asian Journal of Andrology 2024年第2期26卷 144-154页

作者： Rossella Cannarella Carmelo Gusmano Claudia Leanza Vincenzo Garofalo Andrea Crafa Federica Barbagallo Rosita A Condorelli Sandro La Vignera aldo E Calogero Department of Clinical and Experimental Medicine University of CataniaCatania 95123Italy Glickman Urological&Kidney Institute Cleveland Clinic FoundationClevelandOH44195USA

To evaluate the relationship between testosterone replacement therapy(TRT)and arterial and/or venous thrombosis in patients with pre-treatment total testosterone(TT)<12 nmol I^(-1),we performed a meta-analysis following the Population Intervention Comparison Outcome ***:men with TT<12 nmol I^(-1) or clear mention of hypogonadism in the inclusion criteria of patients;intervention:TRT;comparison:placebo or no therapy;outcomes:arterial thrombotic events(stroke,myocardial infarction[MI],upper limbs,and lower limbs),VTE(deep vein thrombosis[DVT],portal vein thrombosis,splenic thrombosis,and pulmonary embolism),and mortality.A total of 2423 abstracts were assessed for ***-four studies,including 14 randomized controlled trials(RCTs),were finally included,with a total of 4027 and 310288 hypotestosteronemic male patients,from RCTs and from observational studies,*** on RCT-derived data,TRT did not influence the risk of arterial thrombosis(odds ratio[OR]=1.27,95%confidence interval[CI]:0.47-3.43,P=0.64),stroke(OR=1.34,95%CI:0.09-18.97,P=0.83),MI(OR=0.51,95%CI:0.11-2.31,P=0.39),VTE(OR=1.42,95%CI:0.22-9.03,P=0.71),pulmonary embolism(OR=1.38,95%CI:0.27-7.04,P=0.70),and mortality(OR=0.70,95%CI:0.20-2.38,P=0.56).Meanwhile,when only observational studies are considered,a significant reduction in the risk of developing arterial thrombotic events,Ml,venous thromboembolism,and mortality was *** risk for DVT remains uncertain,due to the paucity of RCT-based *** in men with TT<12 nmol I^(-1) is safe from the risk of adverse cardiovascular *** studies specifically assessing the risk of DVT in men on TRT are needed.

关键词： hypogonadism testosterone testosterone replacement therapy thromboembolism thrombosis TRT

Demonstrating grating-based phase-contrast imaging of laser-driven shock waves

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Matter and Radiation at Extremes 2024年第4期9卷 90-97页

作者： Leonard Wegert Stephan Schreiner Constantin Rauch Bruno Albertazzi Paulina Bleuel Eric Frojdh Michel Koenig Veronika Ludwig Artem SMartynenko Pascal Meyer aldo Mozzanica Michael Müller Paul Neumayer Markus Schneider Angelos Triantafyllidis Bernhard Zielbauer Gisela Anton Thilo Michel Stefan Funk Plasma Physics Department GSI Helmholtzzentrum fur SchwerionenforschungPlanckstraBe 164291 DarmstadtGermany Erlangen Centre for Astroparticle Physics(ECAP) Friedrich-Alexander-Universität Erlangen-NurnbergNikolaus-Fiebiger-StraBe 291058 ErlangenGermany LULI-CNRS CEASorbonne UniversitésEcole PolytechniqueInstitut Polytechnique de ParisF-91120 Palaiseau CedexFrance Paul Scherrer Institut(Psi) Forschungsstrasse 1115232VilligenSwitzerland Karlsruhe Institute of Technology Institute of Microstructure TechnologyHermann-von-Helmholtz-Platz 176344 Eggenstein-LeopoldshafenGermany

Single-shot X-ray phase-contrast imaging is used to take high-resolution images of laser-driven strong shock *** a two-grating Talbot interferometer,we successfully acquire standard absorption,differential phase-contrast,and dark-field images of the shocked *** agreement is demonstrated between experimental data and the results of two-dimensional radiation hydrodynamics simulations of the laser-plasma *** main sources of image noise are identified through a thorough assessment of the interferometer’s *** acquired images demonstrate that grating-based phase-contrast imaging is a powerful diagnostic tool for high-energy-density *** addition,we make a novel attempt at using the dark-field image as a signal modality of Talbot interferometry to identify the microstructure of a foam target.

关键词： interaction shock phase

高能重离子碰撞中心快度区鉴别粒子的平均横动量

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物理学报 2024年第18期73卷 98-111页

作者：谢浈李景行郑华张文超朱励霖刘星泉谭志光周代梅 Bonasera aldo 陕西师范大学物理学与信息技术学院西安710119 华中师范大学夸克与轻子物理教育部重点实验室武汉430079 四川大学物理学院成都610064 四川大学原子核科学技术研究所成都610064 长沙学院电子信息与电气工程学院长沙410003 华中师范大学粒子物理研究所武汉430079 德州农工大学回旋加速器实验室美国得克萨斯州大学城TX 77843 意大利南方国家实验室意大利卡塔尼亚95123

末态粒子的平均横动量T>是高能重离子碰撞实验中的一个重要观测量.它反映了软质强子的特性和热核物质的性质,对其研究有助于获取碰撞系统的演化信息与规律.基于相对论重离子对撞机(RHIC)上的STAR、PHENIX实验组和大型强子对撞机(LHC)的A... 详细信息

末态粒子的平均横动量T>是高能重离子碰撞实验中的一个重要观测量.它反映了软质强子的特性和热核物质的性质,对其研究有助于获取碰撞系统的演化信息与规律.基于相对论重离子对撞机(RHIC)上的STAR、PHENIX实验组和大型强子对撞机(LHC)的ALICE实验组提供的金核-金核(Au+Au)和铅核-铅核(Pb+Pb)碰撞中心快度区实验数据,唯象公式能很好地描述不同碰撞能量下,鉴别粒子平均横动量T>随碰撞中心度、每核子对的平均碰撞次数、每核子对平均产生的带电粒子多重数赝快度密度及每次碰撞平均产生的带电粒子多重数赝快度密度的依赖关系.结果表明,鉴别粒子平均横动量T>与碰撞中心度呈线性关系,而与每核子对的平均碰撞次数2N_(coll)/N_(part)、每核子对平均产生的带电粒子多重数赝快度密度2/N_(part)dN_(ch)/dη及每次碰撞平均产生的带电粒子多重数赝快度密度1/N_(coll)dN_(ch)/dη呈幂律关系.同时,发现鉴别粒子平均横动量T>与碰撞中心度以及每核子对的平均碰撞次数唯象公式中的拟合参数与碰撞能量呈现非常好的幂律函数关系.因此,碰撞中心度及每核子对的平均碰撞次数是研究鉴别粒子平均横动量的优选物理量.本文结果可用于对实验上在其他碰撞能量下鉴别粒子平均横动量的预测.

关键词：重离子碰撞平均横动量鉴别粒子中心快度区