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Submicroscopic 11p13 deletion including the elongator acetyltransferase complex subunit 4 gene in a girl with language failure, intellectual disability and congenital malformations: A case report

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World Journal of Clinical Cases 2020年第21期8卷 5296-5303页

作者： jaime toral-lopez Luz María González Huerta Olga Messina-Baas Sergio A Cuevas-Covarrubias Departamento de Genética Medica Centro Medico EcatepecISSEMYMEcatepec 55000México Programa de Maestría y Doctorado en Ciencias Médicas Odontológicas y de la Salud/Hospital Infantil de MéxicoUniversidad Nacional Autónoma de MéxicoMéxico 06720México Departamento de Biología Molecular Hospital General de MéxicoCuauhtémoc 06720México Departamento de Oftalmología Hospital General de MéxicoCuauhtémoc 06720México Genetica Hospital General de MéxicoCuauhtémoc 06726Mexico Sergio A Cuevas-CovarrubiasPrograma de Maestría y Doctorado en Ciencias MédicasOdontológicas y de la SaludUniversidad Nacional Autónoma de MéxicoMéxico 06720Mexico

BACKGROUND We described the main features of an infant diagnosed with facial dysmorphic,language failure,intellectual disability and congenital malformations to strengthen our understanding of the ***,treatment is only rehabilitation and surgery for cleft lip and *** SUMMARY The proband was a 2-years-8-months-old *** history was negative for congenital malformations or intellectual *** patient had microcephaly,upward-slanting palpebral fissures,depressed nasal bridge,bulbous nose and bilateral cleft lip and *** magnetic resonance imaging showed cortical atrophy and band *** motor and intellectual development is delayed.A submicroscopic deletion in 11p13 involving the elongator acetyltransferase complex subunit 4 gene(ELP4)and a loss of heterozygosity in Xq25-q26.3 were *** There is no treatment for the ELP4 deletion caused by a submicroscopic 11p3 *** describe a second case of deletion of the ELP4 gene without aniridia,which confirms the association between ELP4 gene with several defects and absence of this ocular *** clinical data in the deletion of the ELP4 gene as cleft palate,facial dysmorphism,and changes at level brain could be associated to this gene or be part of the effect of the recessives genes involved in the loss of heterozygosity region of Xq25-26.3.

关键词： Submicroscopic 11p13 deletion Elongator acetyltransferase complex subunit 4 gene Language failure Intellectual disability Congenital malformations Case report

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Beyond authorship: Analyzing contributions in PLOS ONE and the challenges of appropriate attribution

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JOURNAL OF DATA AND INFORMATION SCIENCE 2024年第3期9卷 88-115页

作者： Maddi, Abdelghani da Silva, jaime A. Teixeira Sorbonne Univ CNRS GEMASS 59-61 Rue Pouchet F-75017 Paris France Ikenobe 3011-2 Miki Kagawa 7610799 Japan

Purpose: This study aims to evaluate the accuracy of authorship attributions in scientific publications, focusing on the fairness and precision of individual contributions within academic works. Design/methodology/approach: The study analyzes 81,823 publications from the journal PLOS ONE, covering the period from January 2018 to June 2023. It examines the authorship attributions within these publications to try and determine the prevalence of inappropriate authorship. It also investigates the demographic and professional profiles of affected authors, exploring trends and potential factors contributing to inaccuracies in authorship. Findings: Surprisingly, 9.14% of articles feature at least one author with inappropriate authorship, affecting over 14,000 individuals (2.56% of the sample). Inappropriate authorship is more concentrated in Asia, Africa, and specific European countries like Italy. Established researchers with significant publication records and those affiliated with companies or nonprofits show higher instances of potential monetary authorship. Research limitations: Our findings are based on contributions as declared by the authors, which implies a degree of trust in their transparency. However, this reliance on self-reporting may introduce biases or inaccuracies into the dataset. Further research could employ additional verification methods to enhance the reliability of the findings. Practical implications: These findings have significant implications for journal publishers, highlighting the necessity for robust control mechanisms to ensure the integrity of authorship attributions. Moreover, researchers must exercise discernment in determining when to acknowledge a contributor and when to include them in the author list. Addressing these issues is crucial for maintaining the credibility and fairness of academic publications. Originality/value: This study contributes to an understanding of critical issues within academic authorship, shedding light on the

关键词： Authorship Funding acquisition Research integrity Author contributions CRediT Inappropriate authorship APC ring TRANSPARENCY GHOST

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Rbfox1 controls alternative splicing of focal adhesion genes in cardiac muscle cells

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JOURNAL OF MOLECULAR CELL BIOLOGY 2024年第1期16卷 mjae003页

作者： Zorn, Peter Sanchez, jaime Calvo Alakhras, Tala Schreier, Barbara Gekle, Michael Huettelmaier, Stefan Koehn, Marcel Univ Halle Wittenberg Med Fac Jr Grp Noncoding RNAs & RBPs Human Dis D-06120 Halle Saale Germany Univ Halle Wittenberg Julius Bernstein Inst Physiol Med Fac D-06112 Halle Saale Germany Univ Halle Wittenberg Inst Mol Med Med Fac D-06120 Halle Saale Germany

Alternative splicing is one of the major cellular processes that determine the tissue-specific expression of protein variants. However, it remains challenging to identify physiologically relevant and tissue-selective proteins that are generated by alternative splicing. Hence, we investigated the target spectrum of the splicing factor Rbfox1 in the cardiac muscle context in more detail. By using a combination of in silico target prediction and in-cell validation, we identified several focal adhesion proteins as alternative splicing targets of Rbfox1. We focused on the alternative splicing patterns of vinculin (metavinculin isoform) and paxillin (extended paxillin isoform) and identified both as potential Rbfox1 targets. Minigene analyses suggested that both isoforms are promoted by Rbfox1 due to binding in the introns. Focal adhesions play an important role in the cardiac muscle context, since they mainly influence cell shape, cytoskeletal organization, and cell-matrix association. Our data confirmed that depletion of Rbfox1 changed cardiomyoblast morphology, cytoskeletal organization, and multinuclearity after differentiation, which might be due to changes in alternative splicing of focal adhesion proteins. Hence, our results indicate that Rbfox1 promotes alternative splicing of focal adhesion genes in cardiac muscle cells, which might contribute to heart disease progression, where downregulation of Rbfox1 is frequently observed.

关键词： Rbfox1 alternative splicing focal adhesion cardiac muscle cells SMOOTH-MUSCLE REGULATORY NETWORK META-VINCULIN PROTEIN EXPRESSION FOX-1 CARDIOMYOPATHY PAXILLIN SEQUENCE SWITCH

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Virtual Transmission Solution Based on Battery Energy Storage Systems to Boost Transmission Capacity

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Journal of Modern Power Systems and Clean Energy 2024年第2期12卷 466-474页

作者： Matías Agüero jaime Peralta Eugenio Quintana Victor Velar Anton Stepanov Hossein Ashourian Jean Mahseredjian Roberto Cárdenas Coordinador Eléctrico Nacional SantiagoChile PGSTech Montreal Canada Ecole Polytechnique de Montréal Montréal Canada University of Chile Santiago Chile IEEE

The increasing penetration of variable renewable energy(VRE)generation along with the decommissioning of conventional power plants in Chile,has raised several operational challenges in the Chilean National Power Grid(NPG),including transmission congestion and VRE *** mitigate these limitations,an innovative virtual transmission solution based on battery energy storage systems(BESSs),known as grid booster(GB),has been proposed to increase the capacity of the main 500 kV corridor of the *** paper analyzes the dynamic performance of the GB using a wide-area electromagnetic transient(EMT)model of the *** GB project,composed of two 500 MVA BESS units at each extreme of the 500 kV corridor,allows increasing the transmission capacity for 15 min during N-1 contingencies,overcoming transmission limitations under normal operation conditions while maintaining system stability during *** dynamic behavior of the GB is also analyzed to control power flow as well as voltage *** results show that the GB is an effective solution to allow greater penetration of VRE generation while maintaining system stability in the NPG.

关键词： Battery energy storage system(BESS) grid booster transient stability voltage stability electromagnetic transient(EMT)

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Grouping tree species to estimate basal area increment in temperate multispecies forests in Durango,Mexico

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Forest Ecosystems 2024年第1期11卷 1-13页

作者： jaime Roberto Padilla-Martínez Carola Paul Kai Husmann Jose Javier Corral-Rivas Klaus von Gadow Department of Forest Economics and Sustainable Land-use Planning Faculty of Forest Sciences and Forest EcologyUniversity of GottingenBüsgenweg 137077GottingenGermany Facultad de Ciencias Forestales Universidad Juarez del Estado de DurangoRío Papaloapan y Boulevard Durango S/N34120DurangoMexico Faculty of Forestry and Forest Ecology Georg-August-UniversitatBüsgenweg 537077GottingenGermany Department of Forestry and Wood Science Faculty of AgriSciencesStellenbosch UniversityStellenbosch Private Bag X1Stellenbosch7602South Africa

Multispecies forests have received increased scientific attention,driven by the hypothesis that biodiversity improves ecological ***,a greater species diversity presents challenges for forest management and *** study aims to develop basal area growth models for tree species *** analysis is based on a dataset of 423 permanent plots(2,500 m^(2))located in temperate forests in Durango,***,we define tree species cohorts based on individual and neighborhood-based variables using a combination of principal component and cluster ***,we estimate the basal area increment of each cohort through the generalized additive model to describe the effect of tree size,competition,stand density and site *** principal component and cluster analyses assign a total of 37 tree species to eight cohorts that differed primarily with regard to the distribution of tree size and vertical position within the *** generalized additive models provide satisfactory estimates of tree growth for the species cohorts,explaining between 19 and 53 percent of the total variation of basal area increment,and highlight the following results:i)most cohorts show a"rise-and-fall"effect of tree size on tree growth;ii)surprisingly,the competition index"basal area of larger trees"had showed a positive effect in four of the eight cohorts;iii)stand density had a negative effect on basal area increment,though the effect was minor in medium-and high-density stands,and iv)basal area growth was positively correlated with site quality except for an oak *** developed species cohorts and growth models provide insight into their particular ecological features and growth patterns that may support the development of sustainable management strategies for temperate multispecies forests.

关键词： Temperate multispecies forests Cluster analysis Basal area increment Generalized additive models

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Designing for well-Being: Using facial micro-expression analysis and EEG biosensor to evaluate human responses to 2D biophilically-driven geometries

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Frontiers of Architectural Research 2024年第2期13卷 219-234页

作者： Andrea Macruz Ernesto Bueno Gustavo Sol jaime Vega Ricardo Palmieri Bing Zhao College of Architecture and Urban Planning Tongji UniversityShanghaiChina Universidade Presbiteriana Mackenzie Sao PauloBrazil Centro Universitario Belas Artes Sao PauloBrazil Universidade Anhembi Morumbi Sao PauloBrazil Universidade Federal do ABC Santo AndreBrazil

This research explores the capacity of emerging technologies to enhance well-being. It involves the generation of 2D biophilically-driven geometries to represent human-response-oriented built environments and conducts inter and intra-individual analyses to assess human responses using a range of technologies within the realms of facial micro-expression analysis and EEG biosensor use. The outcomes of this analysis allow for the grading of these geometries in terms of emotional valences, meditation levels, and subjective preferences. These graded geometries can subsequently be employed in specific architectural contexts, such as interior decor, wallpapers, furniture surfaces, or other architectural and interior components. It is an interdisciplinary effort that underscores the importance of incorporating emerging technological means with human-response-oriented design approaches to foster built environments that promote well-being.

关键词： Biophilic design Geometrical algorithmicmodeling Facial micro-expressionanalysis EEG biosensor Neuroscience

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Morphometry and Mineral Content in the Seeds and Soil of Two Species of Argemone L.(Papaveraceae)in the Central Part of the Chihuahuan Desert

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Phyton-International Journal of Experimental Botany 2024年第2期93卷 371-386页

作者： Perla Patricia Ochoa-García jaime Sánchez-Salas Ricardo Trejo-Calzada Jesús JosafathQuezada-Rivera Fabián García-González Unidad Regional Universitaria de ZonasÁridas BermejilloUniversidad Autónoma ChapingoDurango35230México Facultad de Ciencias Biológicas Universidad Juárez del Estado de DurangoGómez PalacioDurango35010México

The genus Argemone L.(Papaveraceae)is found widely distributed in Mexico’s Chihuahuan Desert(CD).Some species of this genus are of phytochemical or ethnobotanical *** are inedible plants considered as *** date they have not been broadly studied;thus,their ecology is,to our knowledge,*** present work was centered around carrying out a morphometric analysis and the determination of minerals in the soil and seeds of the wild populations of Argemone at sites belonging to two ecoregions of the CD in *** April 2021 and April 2022,seeds of Argemone spp.,and soil samples were collected at 10 sites of the *** seeds were selected under a randomized design,and weight,length,diameter,thickness,buoyancy,and mineral content were *** soil samples were obtained under the Mexican regulation NOM-021-RECNAT-2000,and determinations of mineral content,electrical conductivity,apparent density,and soluble anions were *** information obtained was grouped by variable,species,and place of *** statistical tests consisted of an ANOVA,Tukey means tests considering p≤0.05,and a Principal Components *** pleiacantha exhibited differences in terms of weight(F=54.79,p=0.001),length(F=90.83,p=0.001),thickness(F=104.89,p=0.001),and diameter(F=155.82,p=0.001),and the differences in Argemone mexicana were in weight(F=46.71,p=0.001),thickness(F=187.49,p=0.001),length(F=191.56,p=0.001),and diameter(F=215.83,p=0.001).The evaluated seeds reached their maximal imbibition velocity at 24 h of *** content of the micro-and macro-nutrients analyzed in the seeds and soil suggest a tight relation with the morphometric characteristics of the seeds.

关键词： Micronutrients agricultural area semiarid zone ecoregion buoyancy

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Pancreatic neuroendocrine tumors:Are tumors smaller than 2 cm truly indolent?

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World Journal of Gastrointestinal Oncology 2024年第5期16卷 1756-1762页

作者： Sergio Hoyos Pablo Posada-Moreno Natalia Guzman-Arango Romario Chanci-Drago jaime Chavez Alvaro Andrés-Duarte Santiago Salazar-Ochoa Hepatobilary and Liver Transplant Unit Hospital Pablo Tobon Uribe and Gastrohepathology Group Universidad de AntioquiaMedellin 050034AntioquiaColombia Department of General Surgery Universidad Pontificia BolivarianaMedellín 050034AntioquiaColombia

BACKGROUND Pancreatic neuroendocrine tumors(PNETs)are relatively rare but rank as the second most common pancreatic *** can be functional,causing early metabolic disturbances due to hormone secretion,or non-functional and diagnosed later based on tumor size-related *** diagnoses of PNETs under 2 cm in size have sparked debates about their management;some practitioners advocate for surgical removal and others suggest observation due to the tumors’lower potential for ***,it is unclear whether managing these small tumors expectantly is truly *** To evaluate poor prognostic factors in PNETs based on tumor size(>2 cm or<2 cm)in surgically treated *** This cohort study included 64 patients with PNETs who underwent surgical resection between 2006 and 2019 at a high-complexity reference hospital in Medellín,*** assess patient survival,quarterly follow-ups were conducted during the first year after surgery,followed by semi-annual con-sultations at the hospital's hepatobiliary surgery *** variables were described using absolute and relative frequencies,and quantitative variables were expressed using measures of central tendency and their corresponding measures of *** The presence of lymph node involvement,neural involvement,and lymphovascular invasion were all associated with an increased risk of mortality,with hazard ratios of 5.68(95%CI:1.26–25.61,P=0.024),6.44(95%CI:1.43–28.93,P=0.015),and 24.87(95%CI:2.98–207.19,P=0.003),*** involvement and lymphovascular invasion were present in tumors smaller than 2 cm in diameter and those larger than 2 cm in *** recurrence rates between the two tumor groups were furthermore similar:18.2%for tumors smaller than 2 cm and 21.4%for tumors larger than 2 *** survival was additionally comparable between the two tumor *** Tumor size does not dictate prognosis;lymph node and lymphovascular involvement a

关键词： Neuroendocrine tumor Pancreatic neoplasm Pancreas Pancreatic neuroendocrine neoplasm Pancreatic neuroendocrine tumors

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Unilateral rNurr1-V5 transgene expression in nigral dopaminergic neurons mitigates bilateral neuropathology and behavioral deficits in parkinsonian rats withα-synucleinopathy

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Neural Regeneration Research 2024年第9期19卷 2057-2067页

作者： Bismark Gatica-Garcia Michael J.Bannon Irma Alicia Martínez-Dávila Luis O.Soto-Rojas David Reyes-Corona Lourdes Escobedo Minerva Maldonado-Berny ME Gutierrez-Castillo Armando J.Espadas-Alvarez Manuel A.Fernandez-Parrilla Juan U.Mascotte-Cruz CP Rodríguez-Oviedo Irais E.Valenzuela-Arzeta Claudia Luna-Herrera Francisco E.lopez-Salas jaime Santoyo-Salazar Daniel Martinez-Fong Departamento de Fisiología Biofísica y NeurocienciasCentro de Investigación y de Estudios AvanzadosCiudad de MéxicoMéxico Department of Pharmacology Wayne State University School of MedicineDetroitMIUSA Laboratorio de Patogénesis Molecular Carrera Médico CirujanoFacultad de Estudios Superiores IztacalaUniversidad Nacional Autónoma de MéxicoTlalnepantla de BazMéxico Red de Medicina para la Educación y Desarrollo y la Investigación Científica de Iztacala(Red MEDICI) Carrera Médico CirujanoFacultad de Estudios Superiores IztacalaUniversidad Nacional Autónoma de MéxicoTlalnepantla de BazMéxico Nanoparticle Therapy Institute AguascalientesMéxico Departamento de Biociencias e Ingeniería Centro Interdisciplinario de Investigaciones y Estudios sobre Medio Ambiente y DesarrolloInstituto Politécnico NacionalCiudad de MéxicoMéxico Escuela Nacional de Medicina y Homeopatía Instituto Politécnico NacionalCiudad de MéxicoMéxico Departamento de Fisiología Escuela Nacional de Ciencias BiológicasInstituto Politécnico NacionalCiudad de MéxicoMéxico Departamento de Biología Molecular y Biotecnología Instituto de Investigaciones BiomédicasUniversidad Nacional Autónoma de MéxicoCiudad de MéxicoMéxico Departamento de Física Centro de Investigación y de Estudios AvanzadosCiudad de MéxicoMéxico Programa de Nanociencias y Nanotecnología Centro de Investigación y de Estudios AvanzadosCiudad de MéxicoMéxico

Parkinsonism by unilateral,intranigralβ-sitosterolβ-D-glucoside administration in rats is distinguished in that theα-synuclein insult begins unilaterally but spreads bilaterally and increases in severity over time,thus replicating several clinical features of Parkinson’s disease,a typicalα-*** Nurr1 repressesα-synuclein,we evaluated whether unilateral transfected of rNurr1-V5 transgene via neurotensin-polyplex to the substantia nigra on day 30 after unilateralβ-sitosterolβ-D-glucoside lesion could affect bilateral neuropathology and sensorimotor deficits on day 30 *** study found that rNurr1-V5 expression but not that of the green fluorescent protein(the negative control)reducedβ-sitosterolβ-D-glucoside-induced ***,a bilateral increase in tyrosine hydroxylase-positive cells and arborization occurred in the substantia nigra and increased tyrosine hydroxylase-positive ramifications in the *** addition,tyrosine hydroxylase-positive cells displayed less senescence markerβ-galactosidase and more neuron-cytoskeleton markerβIII-tubulin and brain-derived neurotrophic factor.A significant decrease in activated microglia(positive to ionized calcium-binding adaptor molecule 1)and neurotoxic astrocytes(positive to glial fibrillary acidic protein and complement component 3)and increased neurotrophic astrocytes(positive to glial fibrillary acidic protein and S100 calcium-binding protein A10)also occurred in the substantia *** effects followed the bilateral reduction inα-synuclein aggregates in the nigrostriatal system,improving sensorimotor *** results show that unilateral rNurr1-V5 transgene expression in nigral dopaminergic neurons mitigates bilateral neurodegeneration(senescence and loss of neuron-cytoskeleton and tyrosine hydroxylase-positive cells),neuroinflammation(activated microglia,neurotoxic astrocytes),α-synuclein aggregation,and sensorimotor *** neurotrophic astrocytes and

关键词： A1 astrocytes A2 astrocytes gene therapy microglia motor deficits nanoparticles neurodegeneration neuroinflammation senescence α-synuclein aggregates

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Cytomegalovirus Transverse Myelitis Secondary to Influenza Infection and Early Recovery:A Case Report

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Infectious Diseases & Immunity 2024年第1期4卷 41-42页

作者： Jill S.Bhavsar Lekhini K.Fultariya Poojan J.Prajapati Archi K.Dhamelia jaime E.Campos Department of Infectious Disease Hialeah HospitalMiamiFL(affiliated with HerbertWertheim College of MedicineFlorida International University)33013USA

Immunosuppression can lead to opportunistic infections in a *** evidence of viral infections causing immunosuppression in a host for a transient period is gaining *** order to prolong their stay in the human body,viruses affect the human immune systemin various *** viral infections such as influenza can lead to transient lymphocytopenia,which lays the groundwork for more dangerous opportunistic ***(CMV)infection is a rare cause of inflammatory *** present the case of a patient with an influenza infection who progressed to severe acute respiratory distress syndrome,methicillin-resistant Staphylococcus aureus necrotizing pneumonia,and idiopathic lymphocytopenia with a CD4 count of 61 perμL on *** 2 weeks,the patient developed complete flaccid paralysis with sensory and autonomic *** his polymerase chain reaction results of cerebrospinal fluid and blood test were positive for CMV infection,he was treated with high doses of steroids and ganciclovir *** to early diagnosis and intervention,the patient was able to recover in 2 months with only minimal residual ***,this case stresses on the importance of looking out for opportunistic infections in patients affected by severe viral infections for their early recovery.

关键词： Influenza,Human Lymphocytopenia Transverse myelitis Case report

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