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Inherited Fanconi syndrome

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World Journal of Pediatrics 2023年第7期19卷 619-634页

作者： Anna Luiza Braga Albuquerque Rafael dos santos Borges Ana Flavia Conegundes Erika Emmylaine dos santos Frederico Moreira Man Fu Clara Tavares Araujo pedro Alves Soares Vaz de Castrol Ana Cristina Simoes e Silva Interdisciplinary Laboratory of Medical Investigation Unit of Pediatric NephrologyFaculty of MedicineFederal University of Minas Gerais(UFMG)Belo HorizonteBrazil Department of Pediatrics Faculty of MedicineUFMGAlfredo Balena Avenue1902Nd FloorRoom#281Belo HorizonteMG 30130-100Brazil

Background Fanconi-Debré-de Toni syndrome(also known as Fanconi renotubular syndrome,or FRST)profoundly increased the understanding of the functions of the proximal convoluted tubule(PCT)and provided important insights into the pathophysiology of several kidney diseases and drug *** sources We searched Pubmed and Scopus databases to find relevant articles about *** review article focuses on the physiology of the PCT,as well as on the physiopathology of FRST in children,its diagnosis,and *** FRST encompasses a wide variety of inherited and acquired PCT alterations that lead to impairment of PCT *** children,FRST often presents as a secondary feature of systemic disorders that impair energy supply,such as Lowe's syndrome,Dent's disease,cystinosis,hereditary fructose intolerance,galactosemia,tyrosinemia,Alport syndrome,and Wilson's *** rare,congenital causes of FRST greatly impact the morbidity and mortality of patients and impose diagnostic ***,its treatment is diverse and considers the ability of the clinician to identify the correct etiology of the *** The early diagnosis and treatment of pediatric patients with FRST improve the prognosis and the quality of life.

关键词： Cystinosis Fanconi syndrome Fanconi renotubular syndrome Fanconi-Debre-de Toni syndrome Proximal tubule Renal tubular transport-Rickets

Potential of video games for the promotion of neuroadaptation to multifocal intraocular lenses: a narrative review

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International Journal of Ophthalmology(English edition) 2019年第11期12卷 1782-1787页

作者： Maria Begona Coco-Martin pedro LValenzuela Miguel JMaldonado-López Alejandro santos-Lozano Ainhoa Molina-Martin David P Pinero Research Unit Hospital Clínico Universitario de Valladolid.ICSCYLValladolid 47003Spain Grupo de Cirugía Refractivay Rehabilitación Visual.Instituto Universitario de Oftalmobiología Aplicada(IOBA) Universidad de ValladolidValladolid 47011Spain Physiology Unit Systems Biology DepartmentUniversity of AlcaláMadrid 28801Spain Grupo de Investigación i+Health Departamento de Ciencias de la SaludUniversidad Europea Miguel de CervantesValladolid 47012Spain Department of Optics Pharmacology and AnatomyUniversity of AlicanteAlicante 03690Spain Department of Ophthalmology(IMQO-Oftalmar) Vithas Medimar International HospitalAlicante 03016Spain

Multifocal intraocular lenses(IOLs) are currently usually implanted for the treatment of cataracts because they have been proved to be superior to monofocal IOLs with respect to spectacle independence. In turn, they are associated with a higher prevalence of dysphotopsia symptoms that is one of the most common causes of patient dissatisfaction. Neuroadaptation seems to play a major role in the optimal adaptation to multifocal IOLs. In this context, the development of strategies that facilitate the neuroadaptation process to multifocality might be an effective strategy to reduce patients' dissatisfaction. Video games have been proved to be effective for the improvement of visual acuity and for the promotion of neuroplasticity in elderly subjects and other populations with cortical-related visual impairment. This narrative review highlights the physiological potential of video games as a perceptual strategy to improve visual acuity and promote neuroplasticity in patients using multifocalIOLs, although research is still needed to confirm these benefits in this specific population, with only one comparative study to this date providing evidence of them.

关键词： multifocal intraocular lens dysphotopsia photic phenomena halos video games neuroadaptation neuroplasticity

Angle-to-angle and spur-to-spur distance analysis with high-resolution optical coherence tomography

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Eye and Vision 2020年第1期7卷 399-411页

作者： Robert Montés-Micó pedro Tañá-Rivero Salvador Aguilar-Córcoles María Ruiz-santos María Dolores Rodríguez-Carrillo Ramón Ruiz-Mesa Oftalvist Alicante and Jerez de la FronteraAlicanteSpain University of Valencia ValenciaSpain

Background:To measure angle-to-angle(ATA)and spur-to-spur(STS)distances along six meridians using highresolution swept-source optical coherence tomography(SS-OCT)and to compare those values with horizontal white-to-white(WTW)***:68 eyes from 68 patients were quantitatively assessed with the Anterion SS-OCT(Heidelberg Engineering,Heidelberg,Germany).ATA and STS distances were measured with the SS-OCT’s B-Scan in six cross-sectional images corresponding to the vertical(6-12 o’clock),1-7 o’clock,2-8 o’clock,horizontal(3-9 o’clock),4-10 o’clock and 5-11 o’clock *** was measured horizontally with the device’s infrared camera.A Pearson correlation analysis was carried out to compare ATA and STS distances with ***:The largest values were found for the vertical meridian and the shortest for the 2-8 o’clock meridian,both for ATA and STS *** statistically significant differences were found between WTW,ATA and STS along the horizontal meridian(p>0.1).However,ATA and STS showed statistically significant differences elsewhere,except for the horizontal and the 2-8 o’clock meridians(p>0.05).Moreover,we found that ATA and STS varied significantly depending on the meridian being assessed,except for ATA at 4-10 versus 3-9 o’clock and for STS at 4-10 versus 3-9 o’clock and at 3-9 versus 2-8 o’clock(p>0.1).R^(2) values ranged from 0.49 to 0.75 for ATA and STS at the different meridians,showing the best correlation at 3-9 o’clock meridian(0.64 and 0.75,respectively)and the worst at 6-12 o’clock meridian(R^(2)=0.49 for both ATA and STS).Conclusions:ATA and STS distances vary radially,thus showing that the anterior chamber is vertically ***,it is advisable to measure these two distances along the meridian to be used.

关键词： Angle-to-angle Spur-to-spur White-to-white Optical coherence tomography Swept-source Fourier domain

Non-destructive microstructural analysis by electrical conductivity:Comparison with hardness measurements in different materials

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Journal of Materials Science & Technology 2019年第3期35卷 360-368页

作者： Gon?alo L.Sorger J.P.Oliveira Patrick L.Inácio Norbert Enzinger pedro Vila? R.M.Miranda Telmo G.santos Department of Engineering Design and Production School of Engineering Aalto University Department of Materials Science and Engineering The Ohio State University UNIDEMI Departamento de Engenharia Mecanica e Industrial Faculdade de Ciências e Tecnologia Universidade Nova de Lisboa IMAT-Institute of Materials Science Joining and FormingTU Graz

The use of non-destructive evaluation(NDE) techniques for assessing microstructural changes in processed materials is of particular importance as it can be used to assess, qualitatively, the integrity of any material/structure. Among the several NDE techniques available, electrical conductivity measurements using eddy currents attract great attention owing to its simplicity and reliability. In this work, the electrical conductivity profiles of friction stir processed Ti6Al4 V, Cu, Pb, S355 steel and gas tungsten arc welded AISI 304 stainless steel were determined through eddy currents and four-point probe. In parallel, hardness measurements were also performed. The profiles matched well with the optical macrographs of the materials: while entering in the processed region a variation in both profiles was always observed. One particular advantage of electrical conductivity profiles over hardness was evident: it provides a better resolution of the microstructural alterations in the processed materials. Moreover, when thermomechanical processing induces microstructural changes that modify the magnetic properties of a material,eddy currents testing can be used to qualitatively determine the phase fraction in a given region of the material. A qualitative relation between electrical conductivity measurements and hardness is observed.

关键词： Non-destructive evaluation techniques Electrical conductivity Hardness Friction stir processing Gas tungsten arc welding

Hyperbaric oxygen therapy as a complementary treatment for radiation proctitis:Useless or useful?-A literature review

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World Journal of Gastroenterology 2021年第27期27卷 4413-4428页

作者： Diogo Alpuim Costa Carla Espiney Amaro Ana Nunes Joana santos Cardoso pedro Modas Daniel Isabel Rosa João Vieira Branco Department of Haematology and Oncology CUF OncologiaLisboa 1998-018Portugal Centro de Medicina Subaquática e Hiperbárica(CMSH) Portuguese NavyLisboa 1649-020Portugal Centro de Investigação Naval(CINAV) Portuguese NavyBase Naval do AlfeiteAlmada 2810-001Portugal OVA Medical School Faculdade de Ciências MédicasLisboa 1169-056Portugal Department of Otorhinolaryngology Hospital das Forças Armadas(HFAR)Lisboa 1649-020Portugal Department of Gastroenterology Hospital das Forças Armadas(HFAR)Lisboa 1649-020Portugal Department of Vascular Surgery Centro Hospitalar Universitário de Lisboa CentralHospital de Santa MartaLisboa 1169-024Portugal Department of Intensive Care Unit Hospital das Forças Armadas(HFAR)Lisboa 1649-020Portugal Department of General Surgery Hospital das Forças Armadas(HFAR)Lisboa 1649-020Portugal

Radiotherapy(RT)is the backbone of multimodality treatment of more than half of cancer *** new modern RT techniques,late complications may occur such as radiation proctitis(RP).The natural history of RP is *** symptoms may resolve spontaneously or require conservative *** the other hand,for similar and uncomplicated clinical contexts,symptoms may persist and can even be refractory to the progressive increase in treatment *** the last decades,an enormous therapeutic armamentarium has been considered in RP,including hyperbaric oxygen therapy(HBOT).Currently,the evidence regarding the impact of HBOT on RP and its benefits is *** prospective and randomised studies are necessary to validate HBOT’s effectiveness in the‘real world’clinical *** article reviewed the relevant literature on pathophysiology,clinical presentation,different classifications and discuss RP management including a proposal for a therapeutic algorithm with a focus on HBOT.

关键词： Radiation proctitis Radiation proctopathy Radiotherapy Radio-induced lesion Late radiation tissue injury Delayed radiation injury Late sequelae Hyperbaric oxygen therapy Hyperbaric oxygen Review

Ion dynamics into different pore size distributions in supercapacitors under compression

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Journal of Energy Chemistry 2023年第5期80卷 110-119,I0004页

作者： João pedro Aguiar dos santos Cesar J.B.Pagan Rafael Vicentini Reinaldo F.Teófilo Renato Beraldo Leonardo M.Da Silva Hudson Zanin Brazilian Renewable Energies Center for Innovation on New EnergiesSchool of Electrical and Computer EngineeringUniversity of CampinasAv.Albert Einstein 40CampinasSP13083-852Brazil School of Electrical and Computer Engineering University of CampinasSP 13083-852Brazil Multivariate Chemical Data Analysis Laboratory Department of ChemistryUniversidade Federal de Viçosa36570-900 ViçosaMGBrazil Department of Chemistry Laboratory of Fundamental and Applied ElectrochemistryFederal University of Jequitinhonha and Mucuri's ValleyRodovia MGT 367km 5835000 Alto da Jacuba39100-000DiamantinaMGBrazil

Compressing supercapacitor(SCs)electrode is essential for improving the energy storage characteristics and minimizing ions’distance travel,faradaic reactions,and overall ohmic *** comprising the ion dynamics in SC electrodes under compression are still ***,the ionic dynamics of five aqueous electrolytes in electrodes under compression were studied in this work for tracking electrochemical and structural changes under mechanical stress.A superionic state is formed when the electrode is compressed until the micropores match the dimensions with the electrolyte’s hydrated ion sizes,which increases the *** excessive compression is applied,the accessible pore regions decrease,and the capacitance ***,as the studied hydrated ions have different dimensions,the match between ion/pore sizes *** the LiOH and NaClO4electrolytes,increasing the pressure from 60 to 120 and 100 PSI raised the capacitance from 13.5 to 35.2 F g^(-1)and 30.9 to 39.0 F g^(-1),***,the KOH electrolyte with the lowest and LiCl with the biggest combination of hydrated ion size have their point of maximum capacitance(39.5 and 36.7F g^(-1))achieved at 140 and 80 PSI,*** LiCl and KCl electrolytes,overcompression causes a drop in capacitance higher than 23%.

关键词： Mechanic compression Pore size distribution lon dynamics Activated carbon Supercapacitors

Best practices for electrochemical characterization of supercapacitors

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Journal of Energy Chemistry 2023年第5期80卷 265-283,I0007页

作者： João pedro Aguiar dos santos Fernando Cesar Rufino Joǎo IYutaka Ota Rodolfo CFernandes Rafael Vicentini Cesar JBPagan Leonardo Morais Da Silva Hudson Zanin Brazilian Renewable Energies Center for Innovation on New EnergiesSchool of Electrical and Computer EngineeringUniversity of CampinasSP 13083-852Brazil School of Electrical and Computer Engineering University of CampinasSP 13083-852Brazil Department of Chemistry Laboratory of Fundamental and Applied ElectrochemistryFederal University of Jequitinhonha e Mucuri's ValleyRodovia MGT 367km 5835000Alto da Jacuba39100-000 DiamantinaMGBrazil

We discuss here essential aspects of the experimental supercapacitors characterization by a series of well-known electrochemical *** are motivated by a considerable number of publications that misreport procedures and *** often conceal or neglect essential information about the electrochemical analytical apparatus used and its *** lack of such information may lead researchers,especially inexperienced ones,to misunderstand the procedures and ***,the misled electrochemical equipment configuration favors misinterpretation of data and low reproducibility *** paper aims to highlight these issues and clarify *** explain fundamental concepts of some electrochemical analytical methods,such as cyclic voltammetry,galvanostatic charge-discharge,single potential step chronoamperometry,and electrochemical impedance spectroscopy,focusing on the supercapacitor *** configurations of electrical parameters are presented and discussed to highlight the effects of incorrect setup and uncover misleading *** discuss how the electrochemical setup and data analyses matter in reliable data results for the supercapacitor.

关键词： Supercapacitor Electrochemical instrumentation Electrochemical methods Electrochemistry

Minimizing sperm oxidative stress using nanotechnology for breeding programs in rams

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Journal of Animal Science and Biotechnology 2023年第6期14卷 2395-2410页

作者： Alejandro Jurado‑Campos pedro Javier Soria‑Meneses Maria Arenas‑Moreira Carlos Alonso‑Moreno Virginia Rodriguez‑Robledo Ana Josefa Soler Jose Julian Garde Maria del Rocio Fernandez‑santos SaBio IREC(CSIC-UCLM-JCCM) Campus UniversitarioS/N02071 AlbaceteSpain. Departamento de Quimica Inorganica Organica Y Bioquimica‑Centro de Innovacion en Quimica Avanzada(ORFEO‑CINQA)Facultad de FarmaciaUniversidad de Castilla-La Mancha02008 AlbaceteSpain. Centro Regional de Investigacion Biomedicas Unidad nanoDrugUniversidad de Castilla-La Mancha02008 AlbaceteSpain. Facultad de Farmacia Universidad de Castilla La Mancha02071 AlbaceteSpain.

Background Artificial insemination(AI)is a routine breeding technology in animal ***,the temperature-sensitive nature and short fertile lifespan of ram sperm samples hamper its use in *** this sense,nanotechnology is an interesting tool to improve sperm protection due to the development of nanomaterials for AI,which could be used as delivery *** this work,we explored the feasibility of vitamin E nanoemulsion(NE)for improving sperm quality during *** With the aim of evaluating this proposal,ejaculates of 7 mature rams of Manchega breed were collected by artificial vagina and extended to 60×10^(6)spz/mL in *** containing control and NE(12 mmol/L)with and without exogenous oxidative stress(100μmol/L Fe2+/ascorbate)were stored at 22 and 15℃and motility(CASA),viability(YO-PRO/PI),acrosomal integrity(PNA-FITC/PI),mitochondrial membrane potential(Mitotracker Deep Red 633),lipoperoxidation(C11 BODIPY 581/591),intracellular reactive oxygen species(ROS)production and DNA status(SCSAR)monitored during 96 *** results show that NE could be used to maintain ram spermatozoa during transport at 15 and 22℃for up to 96 h,with no appreciable loss of kinematic and physiological characteristics of freshly collected *** The storage of ram spermatozoa in liquid form for 2-5 d with vitamin E nanoemulsions may lead more flexibility to breeders in AI *** view of the potential and high versatility of these nanodevices,further studies are being carried out to assess the proposed sperm preservation medium on fertility after artificial insemination.

关键词： Breeding technology Nanoemulsions Nanotechnology Sperm oxidative stress Vitamin E

The Human PsB-ATPase ATP13A2 Is Not a Ca2＊ Transporting Pump

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Journal of Life Sciences 2011年第1期5卷 1-6页

作者： Felicitas de Tezanos pinto Gerardo Raul Corradi Hugo pedro Adamo IQUIFIB-Facultad de Farmacia y Bioquimica Universidad de Buenos Aires Junin 956 1113 Buenos Aires Argentina

The human gene ATP 13A2 has been proposed to code for an ATP powered ion transporter of the PsB subfamily. Mutations of the human gene ATP1 3A2 were found to underlie an autosomal recessive form of early-onset parkinsonism （PD） with pyramidal degeneration and dementia. The ion transported by the ATP13A2 pump is not known, but several studies have shown that the Ps-ATPases influence the homeostasis of intracellular Ca2＋, and thus it has been suggested that they transport Ca2＋. In order to evaluate this possibility Chinese hamster ovary （CHO） cells stably expressing the human ATP13A2 protein have been obtained and the Ca2＋ transport activity of ATP 13A2 was assessed by measuring the ATP-dependent uptake of Ca2＋ into microsomal vesicles. As a positive control vesicles containing the human plasma membrane Ca2＋ pump （PMCA） were used. No significant differences were found between vesicles containing the ATP 13A2 protein and the control. Moreover, Ca2＋ was unable to induce the formation of the P-ATPase acylphosphate intermediate in vesicles containing the expressed ATPl3A2. These results favor the idea that the ATPI3A2 does not transport Ca2＋.

关键词： PSB-ATP13A2 calcium uptake CHO cells overexpression.