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Electrophysiology and genetic testing in the precision medicine of congenital deafness:A review

Journal of Otology 2021年第1期16卷 40-46页

作者： Kevin Y.Zhan Oliver F.Adunka Adrien Eshraghi William J.Riggs sandra m.prentiss Denise Yan Fred F.Telischi Xuezhong Liu Shuman He Department of Otolaryngology e Head&Neck Surgery The Ohio State University Wexner Medical CenterColumbusOHUSA Department of Audiology Nationwide Children’s HospitalColumbusOHUSA Department of Otolaryngology e Head&Neck Surgery University of Miami Miller School of MedicineMiamiFLUSA Dr.John T.macDonald Foundation Department of Human GeneticsUniversity of Miami Miller School of MedicineMiamiFLUSA

Background:Congenital hearing loss is remarkably heterogeneous,with over 130 deafness genes and thousands of variants,making for innumerable genotype/phenotype *** both the pathophysiology of hearing loss and molecular site of lesion along the auditory pathway permits for significantly individualized *** techniques such as electrocochleography(ECochG)and electrically-evoked compound action potentials(eCAP)are being studied to localize pathology and estimate residual cochlear *** *** review describes the expanding roles of genetic and electrophysiologic evaluation in the precision medicine of congenital hearing *** basics of genetic mutations in hearing loss and electrophysiologic testing(ECochG and eCAP)are reviewed,and how they complement each other in the diagnostics and prognostication of hearing *** together,these measures improve the understanding of insults to the auditory system,allowing for individualized counseling for CI candidacy/outcomes or other habilitation ***:Despite tremendous discovery in deafness genes,the effects of individual genes on neural function remain poorly *** the understanding between molecular genotype and neural and functional phenotype is paramount to interpreting genetic results in clinical *** future hearing healthcare provider must consolidate an ever-increasing amount of genetic and phenotypic information in the precision medicine of hearing loss.

关键词： Electrophysiology Genetics Hearing loss ECAP ECocHG

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Geochemical elements in suspended particulate matter of Ensenada de La Paz Lagoon,Baja California Peninsula,mexico:Sources,distribution,mass balance and ecotoxicological risks

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Journal of Environmental Sciences 2024年第2期136卷 422-436页

作者： sandra Soledad morales-García Pilar de Acacia Pérez-Escamilla Suresh Babu Sujitha Pichaimani Godwyn-Paulson Andrés Felipe Zuniga-Cabezas muthuswamy Ponniah Jonathan Instituto Politécnico Nacional(IPN) Centro Mexicano para la Producción más Limpia(CMPL)Av.Acueducto s/nCol.Barrio la Laguna TicománDel Gustavo A.MaderoC.P.07340Ciudad de MéxicoMexico Instituto Politécnico Nacional(IPN) Escuela Superior de Ingeniería y Arquitectura(ESIA)Unidad Ticomán***án 600Delg.Gustavo A.MaderoC.P.07340Ciudad de México(CDMX)Mexico Instituto Politécnico Nacional(IPN) Centro Interdisciplinario de Investigaciones y Estudios sobre Medio Ambiente y Desarrollo(CIIEMAD)Calle 30 de Junio de 1520Barrio la Laguna TicománDel.Gustavo A.MaderoC.P.07340Ciudad de MéxicoMéxico

The present study aimed to evaluate multi-element concentrations(Al,As,Ca,Cd,Co,Cr,Cu,Fe,mg,mn,mo,Ni,Pb,Sr)in suspended particulate material(SPm)collected from Ensenada de La Paz(ELP)lagoon,Baja California Sur,mexico in two different periods(September and may)to comprehend their origin,geochemical behavior,mass transfer and associated ecotoxicological *** 24 hr variation coefficient of volumetric SPm levels were found to be 51.7%in September and 40.5%in may,signifying the effects of oceanic *** calculated enrichment factor(EF)values for all the studied elements were of higher magnitude because of the high surface area and oxide nature of SPm,and in this study,mo had the highest EF of 46.77 probably due to its origin from continental *** the ecotoxicological perspective,the integrated toxic risk index revealed low toxic risk to the benthic ***,the mean-ERm-Quotient calculated using the particulate concentrations of As,Cd,Cr,Cu,Ni,Pb indicated 9%probability of toxicity to *** comprehensive geochemical and ecotoxicological assessment of particulate metal concentrations in the ELP lagoon signify low to moderate contamination.

关键词： Suspended particulate material Heavy metals Risk assessment mass transfer Ensenada de La Paz

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The delivery of N-myc downstream-regulated gene 2(NDRG2)self-amplifying mRNA via modified lipid nanoparticles as a potential treatment for drug-resistant and metastatic cancers

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medical Review 2024年第3期4卷 235-238页

作者： sandra E.Reznik Amit K.Tiwari Vivek Chavda Charles R.Ashby Jr. Department of Pharmaceutical Sciences College of Pharmacy and Health SciencesSt.John’s UniversityQueensUSA Departments of Pathology and Obstetrics and Gynecology and Women’s Health Montefiore Medical Center/Albert Einstein College of MedicineBronxUSA Department of Pharmaceutical Sciences College of Pharmacy University of Arkansas for Medical Sciences Little RockUSA Department of Pharmaceutics and Pharmaceutical Technology L.m.College of Pharmacy AhmedabadIndia Department of Pharmaceutical Sciences College of Pharmacy and Health SciencesSt.John’s UniversityQueensNY 11439USA

The protein,N-myc downstream-regulated gene 2(NDRG2),a tumor suppressor,is significantly decreased or absent in many types of *** is a significant negative correlation between the levels of NDRG2 and the development and progression of cancer tumor recurrence and tumor invasion,in different *** contrast,the in vitro and in vivo overexpression of the NDRG2 protein decreases the proliferation,growth,adhesion and migration of many types of cancer *** in vitro overexpression of NDRG2 increases the efficacy of certain anticancer drugs in specific types of cancer *** hypothesize that the delivery of the mRNA of the NDRG2 protein,encapsulated by lipid nanoparticles,could represent a potential treatment of metastatic and drug-resistant *** would be accomplished using a self-amplifying mRNA that encodes the NDRG2 protein and an RNA-dependent-RNA polymerase,obtained from an in vitrotranscribed(IVT)*** IVT mRNA would be encapsulated in a lipid *** efficacy of the nanoformulation would be determined in cultured cancer cells and if the results are positive,nude mice transplanted with either drug-resistant or metastatic drug-resistant cancer cells,would be treated with the nanoformulation and monitored for efficacy and adverse *** the appropriate preclinical studies indicate this formulation is efficacious and safe,it is possible it could be evaluated in clinical trials.

关键词： N-myc downstream-regulated gene 2(NDRG2) cancer self-amplifying mRNA nanoparticle

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Supramolecular Polymerization of Hydrogen-Bonded Trimers in Bulk and Aqueous medium

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CCS Chemistry 2024年第6期6卷 1458-1465页

作者： Freek V.de Graaf Stef A.H.Jansen sandra m.C.Schoenmakers Bas van Genabeek marle E.J.Vleugels Bart W.L.van den Bersselaar E.W.meijer Ghislaine Vantomme Institute for Complex molecular Systems Laboratory of Macromolecular and Organic ChemistryEindhoven University of Technology5600 MBEindhoven School of Chemistry and RNA Institute University of New South WalesSydneyNew South Wales 2052

Synthetic molecules that form functional noncovalent assemblies in water have received much attention for their potential applications as *** this work,we introduce a novel water-compatible monomer based on the phthalhydrazide moiety that assembles into hydrogen-bonded trimeric *** bulk,the material exhibits a cylindrical nanostructure in the liquid-crystalline phase at elevated temperatures,morphologically distinct from the crystalline lamellar *** water,these molecules effectively form cylinders in a one-dimensional fashion,yielding fibrous *** formation of these supramolecular polymers follows a cooperative mechanism,as evidenced by denaturation *** trimerized pattern represents a new category of aqueous su pramolecular polymers with future prospects for functional complex molecular systems.

关键词： noncovalent chemistry supramolecular polymers hydrogen bonding cooperativity nanostructure

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Competencies in Computer Security and Resolution of Technological Problems in Higher Education Students

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Journal of Computer and Communications 2024年第4期12卷 171-185页

作者： Esteban Pérez Flores Alejandra Aldrette malacara sandra R. murillo Cano Vittorio Zanella Palacios Facultad de Ciencias Administrativas Universidad Aut&#243noma de Baja California Mexicali M&#233xico Decanato de Ingenierí as Universidad Popular Aut&#243noma Del Estado de Puebla Puebla M&#233xico

Starting from the importance of preserving our information and protecting our devices against attacks on their vulnerabilities, this article aims to establish the level of knowledge in computer security and problem-solving of students at a university in northwest mexico. This research has a quantitative approach where the European Framework of Digital Competencies for Citizenship was used as a reference to identify and establish the level of the competencies that were evaluated. The IKANOS Test was used as a data collection tool. The results show that students know the importance of keeping their devices safe and how valuable the information found on them is. On the other hand, the results also show a considerable percentage of students who do not have the knowledge and are at a basic level of knowledge to solve technical problems with their devices.

关键词： Digital Literacy Cybersecurity DigComp Digital Skills Data Protection

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multi-tissue transcriptomics of a unique monozygotic discordant twin case of severe progressive osseous heteroplasia

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Genes & Diseases 2024年第3期11卷 22-25页

作者： Alberto Gomez-Carballa maria Jose Curras-Tuala Sara Pischedda miriam Cebey-Lopez Jose Gomez-Rial Irene Rivero-Cale Jacobo Pardo-seco Xabier Bello sandra Viz-Lasheras Antonio Justicia-Grande Julian montoto-Louzao Alba Camino-mera Isabel Ferreiros-Vidal maximo Fraga Jose RAntunez Rodolfo Gomez Federico martinon-Torres Antonio Salas Genetics Vaccines and Infections Research Group(GENVIP)Instituto de Investigacion Sanitaria de SantiagoSantiagode CompostelaGalicia 15706Spain Translational Pediatrics and Infectious Diseases Department of PediatricsHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Laboratorio de Inmunologia Servicio de Andlisis ClinicosHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Unidade de Xenetica Instituto de Ciencias Forenses(INCIFOR)Facultade de MedicinaUniversidade de Santiago de Compostelaand GenPoB Research GroupInstituto de Investigacion SanitariaHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain musculoskeletal Pathology Group Instituto de Investigacion Sanitaria de SantiagoServicio Galego de Saude(SERGAS)Santiago de CompostelaGalicia 15706Spain Department of Pathology Hospital Clinico Universitario de Santiago de Compostela(SERGAS)Galicia 15706Spain Unidad Integrada de BiobancosBiomodelos 3D y Modelos Animales IDIS(lnstituto de Investigacion Sanitaria de Santiagode Compostela)Galicia15706Spain Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias(CIBER-ES) MadridSpain

Progressive osseous heteroplasia(POH)is an ultra-rare autosomal dominant disabling disorder characterized by heterotopic ossification(HO).It is caused by heterozygous inactivating mutations in the GNAS(guanine nucleotide-binding protein alpha-stimulating activity polypeptide)***,the molecular mechanisms underlying HO remain poorly *** a treatment for POH is not yet available,the identification of the mechanisms driving POH in affected tissues using gene expression may be of great help to underestand the molecular basis of POH and develop new therapeutic approaches.

关键词： stimulating driving asi

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Stable Weakly Shadowable Volume-preserving Systems Are Volume-hyperbolic

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Acta mathematica Sinica,English Series 2014年第6期30卷 1007-1020页

作者： mrio BESSA manseob LEE sandra VAZ Universidade da Beira Interior Rua Marquês d’vila e Bolama 6201-001 Covilh Portugal Department of mathematics Mokwon University Daejeon 302-729 Republic of Korea

We prove that any C1-stable weakly shadowable volume-preserving diffeomorphism defined on a compact manifold displays a dominated splitting E ⊕ F. moreover, both E and F are volume-hyperbolic. Finally, we prove the version of this result for divergence-free vector fields. As a consequence, in low dimensions, we obtain global hyperbolicity.

关键词： Weak shadowing dominated splitting hyperbolicity

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Almost sure, L1-and L2-growth behavior of supercritical multi-type continuous state and continuous time branching processes with immigration

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Science China mathematics 2020年第10期63卷 2089-2116页

作者： mátyás Barczy sandra Palau Gyula Pap mTA-SZTE Analysis and Stochastics Research Group Bolyai InstituteUniversity of SzegedSzeged H-6720Hungary Department of Statistics and Probability Instituto de Investigaciones en Matemáticas Aplicadas y en SistemasUniversidad Nacional Autònoma de MéxicoCiudad de México 04510México Bolyai Institute University of SzegedSzeged H-6720Hungary

Under a first order moment condition on the immigration mechanism,we show that an appropriately scaled supercritical and irreducible multi-type continuous state and continuous time branching process with immigration(CBI process)converges almost *** an x log(x)moment condition on the branching mechanism does not hold,then the limit is *** this x log(x)moment condition holds,then we prove L1 convergence as *** projection of the limit on any left non-Perron eigenvector of the branching mean matrix is ***,in addition,a suitable extra power moment condition on the branching mechanism holds,then we provide the correct scaling for the projection of a CBI process on certain left non-Perron eigenvectors of the branching mean matrix in order to have almost sure and L1 ***,under a second order moment condition on the branching and immigration mechanisms,we prove L2 convergence of an appropriately scaled process and the above-mentioned projections as well.A representation of the limits is also provided under the same moment conditions.

关键词： multi-type continuous state and continuous time branching processes with immigration almost sure L1-and L2-growth behaviour

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Novel trends in celiac disease

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Cellular & molecular Immunology 2011年第2期8卷 121-125页

作者： Torsten matthias sandra Neidhofer Sascha Pfeiffer Kai Prager sandra Reuter m Eric Gershwin AESKU.KIPP Institute WendelsheimGermany AESKU.Diagnostics GmbH&Co.KG WendelsheimGermany Division of Rheumatology Allergyand Clinical ImmunologyUniversity of CaliforniaDavisCAUSA

Celiac disease(CD)is one of the most common food intolerances in developed *** affects genetically susceptible individuals and has severe consequences if it remains undiagnosed.A disease known for more than a century,it is still the focus for experts from various fields of research and ***,pathologists,immunologists,food engineers and dieticians share their knowledge and expertise to improve the conditions of CD *** new insights in the pathomechanism of gluten processing and antigen presentation in CD,it was possible to improve the diagnostic antigen mimicking the primary epitope in *** celiac neo-epitopes are comprised of a complex of gliadin peptides crosslinked with transglutaminase(tTg).They are an early diagnostic marker for CD which occurs up to 6 months earlier than classical markers known to miss a certain amount of CD patients.

关键词： celiac disease tissue transglutaminase celiac neo-epitope gluten diagnostic marker

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Wild bee distribution near forested landscapes is dependent on successional state

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Forest Ecosystems 2020年第2期7卷 159-171页

作者： Katherine A.Odanaka sandra m.Rehan Department of Biological Sciences University of New HampshireDurhamNHUSA Department of Biology York UniversityTorontoONCanada

Background:Forested landscapes are valuable sources of ecosystem services especially in areas dedicated to intense agricultural *** from forest margin is known to influence the wild bee community in the landscape surrounding forested *** little is known regarding how bee communities distribute themselves in landscapes that exhibit different forest successional ***:We examined how land use type and distance from the forest edge affect the abundance and richness of the wild bee community across four forest successional *** were collected in sites representing four stages of forest succession and analyzed using generalized linear mixed models with negative binomial ***:Wild bee diversity is reduced in forested environments that maintain dense stands of trees and high canopy ***,distance from the forest edge was an important factor determining wild bee distribution in successional stages adjacent to forest ***,we found that bees maintain high specificity for distinct successional states and ***:Our results demonstrate how different successional stages can harbor different bee species and highlight the ability of microhabitats to act as reservoirs of bee diversity in and around forest ***,we found that maximizing successional patchiness across forested landscapes increases the amount of available habitat that can support a diverse suite of bees with different nesting biologies and behaviors.

关键词： Pollinator Forest margin Bee habitat Nesting biology Wild bees

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