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Quantifying Kinematic Tremor in an NGLY1-Deficient Individual: A Case Study

Case Reports in Clinical Medicine 2024年第1期13卷 25-36页

作者： Brock Futrell Christopher Alexander Malaya dacia martinez diaz Christian Alfaro Hannah Elizabeth Gustafson Subhalakshmi Chandrasekaran Rhea Mohan Phatak Bernhard Suter Charles Shannon Layne Department of Health and Human Performance University of Houston Houston USA Center for Neuromotor and Biomechanics Research University of Houston Houston USA Department of Computer Science and Engineering Texas A&M University College Station USA Blue Bird Circle Rett Center Texas Children’s Hospital Houston USA Baylor College of Medicine Houston USA Center for NeuroEngineering and Cognitive Science University of Houston Houston USA

NGLY1 Deficiency is an autosomal recessive congenital disorder that has been identified in less than 100 individuals. Most individuals with NGLY1 Deficiency display hyperkinetic movement disorders, including choreiform, athetoid, dystonic myoclonic, dyskinetic, and dysmetric movements. Developing a consistent and concise consensus on the classification and evaluation of tremors is essential to forward the research and treatment of tremors. It has also been reported that some individuals with NGLY1 Deficiency demonstrate tremor, but such tremor has never been formally investigated. The primary objective of this study is to determine if an individual with NGLY1 Deficiency demonstrates an identifiable tremor during a series of arm movements and, if so, describe the frequency and power characteristics of that tremor. Arm movement kinematics were obtained using a 16-camera Vicon system, and time series trajectory waveforms for three planes of a marker placed on the hand were developed. Custom MATLAB scripts were utilized to compute Fast Fourier Transformations of the data within the identified waveform segments. A mean frequency of 2.30 Hz (SD = 1.05) with a mean power of 5.02 |P1(f)| (SD = 4.63) suggests that our participant’s kinematic data did display a persistent tremor in both hands across all tasks and movement planes. Analyses of the reaching hand and the non-reaching hand suggest the participant displayed an action tremor in both postural and intention (kinetic) tremors. Future directions should include assessing additional individuals with NGLY1 Deficiency to determine if the tremor is a distinguishable disorder behavior. Additionally, evaluating other anatomical sites, such as the elbow, head, and lower limbs, would provide further insights into the characteristics of this tremor.

关键词： Tremor NGLY Fast Fourier Transformation Reaching Hyperkinetic Movement

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3-Dimensional Kinematic Comparison of Arm Movements between an Individual with NGLY1 Deficiency and a Neurotypical Individual

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Case Reports in Clinical Medicine 2024年第4期13卷 122-146页

作者： Charles S. Layne Christopher A. Malaya Brock Futrell dacia martinez diaz Christian Alfaro Hannah E. Gustafson Subhalakshmi Chandrasekaran Rhea M. Phatak Bernhard Suter Department of Health and Human Performance University of Houston Houston TX USA Center for Neuromotor and Biomechanics Research University of Houston Houston TX USA Center for Neuro Engineering and Cognitive Science University of Houston Houston TX USA Department of Computer Science and Engineering Texas A&M University College Station TX USA Blue Bird Circle Rett Center Texas Children&#8217s Hospital Houston TX USA Baylor College of Medicine Houston TX USA

NGLY1 Deficiency is an ultra-rare autosomal recessively inherited disorder. Characteristic symptoms include among others, developmental delays, movement disorders, liver function abnormalities, seizures, and problems with tear formation. Movements are hyperkinetic and may include dysmetric, choreo-athetoid, myoclonic and dystonic movement elements. To date, there have been no quantitative reports describing arm movements of individuals with NGLY1 Deficiency. This report provides quantitative information about a series of arm movements performed by an individual with NGLY1 Deficiency and an aged-matched neurotypical participant. Three categories of arm movements were tested: 1) open ended reaches without specific end point targets;2) goal-directed reaches that included grasping an object;3) picking up small objects from a table placed in front of the participants. Arm movement kinematics were obtained with a camera-based motion analysis system and “initiation” and “maintenance” phases were identified for each movement. The combination of the two phases was labeled as a “complete” movement. Three-dimensional analysis techniques were used to quantify the movements and included hand trajectory pathlength, joint motion area, as well as hand trajectory and joint jerk cost. These techniques were required to fully characterize the movements because the NGLY1 individual was unable to perform movements only in the primary plane of progression instead producing motion across all three planes of movement. The individual with NGLY1 Deficiency was unable to pick up objects from a table or effectively complete movements requiring crossing the midline. The successfully completed movements were analyzed using the above techniques and the results of the two participants were compared statistically. Almost all comparisons revealed significant differences between the two participants, with a notable exception of the 3D initiation area as a percentage of the complete movement. The stati

关键词： NGLY1 Deficiency Developmental Disorders Kinematics 3 Dimensional Analyses

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Plant adaptation to low phosphorus availability:Core signaling,crosstalks,and applied implications

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Molecular Plant 2022年第1期15卷 104-124页

作者： Javier Paz-Ares Maria Isabel Puga Monica Rojas-Triana Iris martinez-Hevia Sergio diaz Cesar Poza-Carrión Miguel Mi(n)ambres Antonio Leyva Department of Plant Molecular Genetics Centro Nacional de Biotecnología(CNB-CSIC)Darwin 3Campus Universidad Autónoma28049 MadridSpain Institute of Plant Biochemistry Institute of Synthetic Biology and CEPLASUniversity of Düsseldorf40225 DüsseldorfGermany

Phosphorus(P)is an essential nutrient for plant growth and *** preferentially absorb P as orthophosphate(Pi),an ion that displays low solubility and that is readily fixed in the soil,making P limita-tion a condition common to many soils and Pi fertilization an inefficient *** cope with Pi limitation,plants have evolved a series of developmental and physiological responses,collectively known as the Pi starvation rescue system(PSR),aimed to improve Pi acquisition and use efficiency(PUE)and protect from Pi-starvation-induced *** research has been carried out during the last 20 years to un-ravel the mechanisms underlying the control of the PSR in *** we review the results of this research effort that have led to the identification and characterization of several core Pi starvation signaling components,including sensors,transcription factors,microRNAs(miRNAs)and miRNA inhibitors,kinases,phosphatases,and components of the proteostasis *** also refer to recent results revealing the existence of intricate signaling interplays between Pi and other nutrients and antagonists,N,Fe,Zn,and As,that have changed the initial single-nutrient-centric view to a more integrated view of nutrient ***,we discuss advances toward improving PUE and future research priorities.

关键词： inositol pyrophosphate plant nutrient PHR1 transcription factor PUE(phosphorus acquisition and use efficiency) SPX sensor and STOP1 transcription factor

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Hydrogen storage in a rare-earth perovskite-type oxide La_(0.6)Sr_(0.4)Co_(0.2)Fe_(0.8)O_3 for battery applications

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Rare Metals 2018年第12期37卷 1003-1013页

作者： John Henao Oscar Sotelo Maura Casales-diaz Lorenzo martinez-Gomez CONACYT-CIATEQ A.C. Av. Manantiales 23-AParque Industrial Bernardo Quintana Instituto de Ciencias Fisicas (ICF) Universidad Nacional Autonoma de Mexico (UNAM)-Campus Morelos

Recently, rare-earth perovskite-type oxides with the general formula ABO(A rare earth element, B transition metal, O oxygen) are regarded as promising materials for Ni/oxide batteries due to their hydrogen storage ability. In the present study, the hydrogen storage properties of the rare-earth perovskite-type oxide LaSrCoFeOwere evaluated in alkaline solution and at various temperatures. The hydrogen storage properties were investigated electrochemically by applying galvanostatic charge/discharge currents. Electrochemical pressurecomposition-temperature isotherms were constructed using the Nernst equation. The exchange current density and proton hydrogen diffusion coefficient were calculated using linear polarization measurements and the potential-step method, respectively. Interestingly, the maximum hydrogen absorption capacity, re-calculated from the electrochemical capacity, is 1.72 wt% at 333 K and 6 mol·LKOH. In addition, the hysteresis value, calculated from pressure-composition-temperature isotherms, was429 J·molat 333 K,while the self-discharge rate was about 25% after 24-h storage at open circuit and at 333 K.

关键词： Hydrogen storage Rare earths Perovskites Ni/oxide batteries

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Comparative transcriptomics reveals hidden issues in the plant response to arthropod herbivores

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Journal of Integrative Plant Biology 2021年第2期63卷 312-326页

作者： M.Estrella Santamaria Alejandro Garcia Ana Amaiz Irene Rosa-diaz Gara Romero-Hernandez Isabel diaz Manuel martinez Centro de Biotecnologia y Genomica de Plantas Instituto Nacional de Investigacion y Tecnologia Agraria y AlimentariaUniversidad Politecnica de MadridMadridSpain Departamento de Biotecnologia-Biologia Vegetal Escuela Tecnica Superior de Ingenierfa AgronomicaAlimentaria y de BiosistemasUniversidad Politecnica de MadridMadridSpain

Plants experience different abiotic/biotic stresses,which trigger their molecular machinery to cope with them. Besides general mechanisms prompted by many stresses, specific mechanisms have been introduced to optimize the response to individual threats. However, these key mechanisms are difficult to identify. Here, we introduce an in-depth species-specific transcriptomic analysis and conduct an extensive meta-analysis of the responses to related species to gain more knowledge about plant responses. The spider mite Tetranychus urticae was used as the individual species, several arthropod herbivores as the related species for meta-analysis, and Arabidopsis thaliana plants as the common host. The analysis of the transcriptomic data showed typical common responses to herbivory, such as jasmonate signaling or glucosinolate biosynthesis. Also, a specific set of genes likely involved in the particularities of the Arabidopsis-spider mite interaction was discovered. The new findings have determined a prominent role in this interaction of the jasmonateinduced pathways leading to the biosynthesis of anthocyanins and tocopherols. Therefore, tandem individual/general transcriptomic profiling has been revealed as an effective method to identify novel relevant processes and specificities in the plant response to environmental stresses.

关键词： Arabidopsis thaliana arthropod herbivore comparative transcriptomics plant defense Tetranychus urticae

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Phase Ⅱ trial of CDK4/6 inhibitor palbociclib in advanced sarcoma based on mRNA expression of CDK4/CDKN2A

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Signal Transduction and Targeted Therapy 2023年第11期8卷 5518-5527页

作者： Javier Martin-Broto Jeronimo martinez-Garcia David SMoura Andres Redondo Antonio Gutierrez Antonio Lopez-Pousa Javier martinez-Trufero Isabel Sevilla Roberto diaz-Beveridge Maria Pilar Solis-Hernandez Amancio Carnero Marco Perez David Marcilla Jesus Garcia-Foncillas Pablo Romero Javier Fernandez-Jara Daniel Lopez-Lopez Ivan Arribas Nadia Hindi Health Research Institute-Fundación Jiménez Díaz University Hospital Universidad Autónoma de Madrid(IIS-FJDUAM)28040MadridSpain Medical Oncology Department Fundación Jimenez Diaz University Hospital28040MadridSpain General de Villalba University Hospital 28400MadridSpain Medical Oncology Department University Hospital Virgen de la Arrixaca30120MurciaSpain Department of Medical Oncology Hospital Universitario La Paz-IdiPAZP.Castellana26128046MadridSpain Hematology Department University Hospital Son Espases07120MallorcaSpain Medical Oncology Department Sant Pau Hospital08025BarcelonaSpain Medical Oncology Department University Hospital Miguel Servet50009ZaragozaSpain Investigación Clínica y Traslacional en Cáncer/Instituto de Investigaciones Biomédicas de Malaga(IBIMA)/Hospitales Universitarios Regional y Virgen de la Victoria de Malaga MalagaSpain Medical Oncology Department Hospital Universitari i Politècnic La Fe46026ValenciaSpain Medical Oncology Department Central University Hospital of Asturias33011OviedoSpain Instituto de Biomedicina de Sevilla(IBiS HUVRCSICUS)41013SevillaSpain Pathology Department Virgen del Rocio University Hospital41013SevillaSpain Radiology Department Fundación Jimenez Diaz University Hospital28040MadridSpain Computational Medicine Platform Fundación progreso y salud(FPS)Hospital Virgen del Rocío41013SevilleSpain Bioinformatics in Rare Diseases(BiER).Centro de Investigación Biomédica en Red de Enfermedades Raras(CIBERER) FPSHospital Virgen del RocioSevillaSpain Universitat de València-ERI-CES 46010ValenciaSpain

Cyclin-dependent kinases 4 and 6(CDK4/6)inhibitors demonstrated activity in terms of progression-free survival(PFS)in advanced dedifferentiated liposarcoma(DD-LPS),a sarcoma with CDK4 ***4 overexpression is by far more common than amplification in sarcomas and it might be a rational target for CDK *** investigators of this study found that CDK4 overexpression,while not of CDKN2A,was the most consistent predictive factor for palbociclib efficacy in *** adult-type soft-tissue sarcoma,excluding DD-LPS,or bone sarcoma patients,progressing after at least one systemic line,whose tumors overexpressed CDK4,but not CDKN2A at baseline biopsy,were accrued in this single-arm phase II trial(EudraCT number:2016-004039-19).With the main endpoint of a 6-month PFS rate,40%was considered promising in this *** was administered orally at 125 mg/day for 21 days in 28-day cycles.A total of 214 patients with 236 CDK4/CDKN2A determinations were assessed for prescreening,archival material(141),and screening,baseline biopsy(95).There were 28(29%)with favorable mRNA profiles from 95 screened patients at *** 23 enrolled patients,21 evaluable,the 6-month PFS rate was 29%(95%CI 9–48),and there were 6 patients out of 21 with a PFS longer than 6 *** median PFS and overall survival were 4.2(95%CI 3.6–4.8)and 12(95%CI 8.7–15.4)months,*** research showed a significant correlation between CDK4 mRNA and protein *** was active in a variety of sarcoma subtypes,selected by CDK4/CDKN2A,and deserves further investigation in the sarcoma context.

关键词： CDKN2A sarcoma CDK4

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Novel pluripotent stem cell lines for enriched grafting in Parkinson’s disease

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Neural Regeneration Research 2020年第2期15卷 255-256页

作者： Agustin Cota-Coronado Lachlan H.Thompson N.Emmanuel diaz-martinez Biotecnologia Medica y Farmaceutica Centro de Investigacion y Asistencia en Tecnologia y Diseno del Estado de JaliscoGuadalajaraMexico The Florey Institute of Neuroscience and Mental Health The University of MelbourneMelbourneAustralia

Parkinson's disease (PD) is the second most common neurodegenerative disease, affecting 1% of the population over 55 years of age and up to 4% of the population over 80 years of age (Blesa et al., 2012). This progressive and neurodegenerative condition results from an excessive loss of dopaminergic neurons (50-70%) of the substantia nigra pars compacta, leading to a significant decrease in dopamine (DA) levels in the striatum and consequently a functional deterioration of motor circuity (Blesa et al., 2012;Nielsen et al., 2016).

关键词： Parkinson's disease striatum neurodegenerative

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Study on mechanism of mercury oxidation by fly ash from coal combustion

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Chinese Science Bulletin 2010年第2期55卷 163-167页

作者： ZHAO YongChun ZHANG JunYing LIU Jing diaz-SOMOANO Mercedes martinez-TARAZONA M. Rosa ZHENG ChuGuang State Key Laboratory of Coal Combustion Huazhong University of Science & Technology Wuhan 430074 China Instituto Nacional del Carbon ( CSIC) Francisco Pintado Fe 26 33011 Oviedo Spain

To understand the interaction of fly ash and mercury, systematic experiments on mercury oxidation in single flue gas composition are conducted on a fixed bed reactor system, the desorption rate and speciation of mercury are valuated. The results indicate that fly ash itself can significantly promote elemental mercury oxidation. A classification of fly ash activated sites is developed according to the speciation of mercury during adsorption-desorption tests, the reaction mechanism of mercury oxidation by fly ash is proposed. Acid gas can promote mercury oxidation and improve the stability of oxidation product. Lattice oxygen is an important oxidant of mercury oxidation.

关键词：氧化机制粉煤灰煤炭燃烧汞反应器系统氧化反应机理相互作用烟气成分

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Benchmarking of two three-dimensional numerical models in time/space domain to predict railway-induced ground vibrations

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Earthquake Engineering and Engineering Vibration 2021年第1期20卷 245-256页

作者： Jesus Fernandez-Ruiz Luis E.Medina Rodriguez Pedro Alves Costa Margarita martinez-diaz University of La Coruna Department of Civil EngineeringCampus de ElvinaLa Coruna 15071Spain University of Porto Faculty of EngineeringRua Dr.Roberto Friass/n Porto4200-465Portugal University of La Coruna Department of Naval and Industrial EngineeringCampus de ElvinaLa Coruna 15071Spain

In the last 30 years,the scientific community has developed and proposed different models and numerical approaches for the study of vibrations induced by railway *** of them are formulated in the frequency/wave number domain and with a 2.5D ***-dimensional numerical models formulated in the time/space domain are less frequently used,mainly due to their high computational ***,these models present very attractive characteristics,such as the possibility of considering nonlinear behaviors or the modelling of excess pore pressure and non-homogeneous and non-periodic geometries in the longitudinal direction of the *** this study,two 3D numerical approaches formulated in the time/space domain are compared and experimentally *** first one consists of a finite element approach and the second one of a finite difference *** experimental validation in an actual case situated in Carregado(Portugal)shows an acceptable fitting between the numerical results and the actual measurements for both ***,there are some differences among *** study therefore includes some recommendations for their use in practical soil dynamics and geotechnical engineering.

关键词： railway vibrations time/space domain 3D numerical model finite difference method implicit finite element method

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Comparison of clinical outcomes between unrelated single umbilical cord blood and"ex-vivo"T-cell depleted haploidentical transplantation in children with hematological malignancies

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World Journal of Pediatrics 2021年第6期17卷 609-618页

作者： Carmen Gomez-Santos Marta Gonzalez-Vicent Blanca Molina Natalia Deltoro Blanca Herrero Julia Ruiz Antonio Perez-martinez Miguel A diaz Department of Pediatrics Hematopoietic Stem Cell Transplantation UnitHospital Infantil Universitario"Nino Jesus"Menedez Pelayo 6528009 MadridSpain Hospital Infantil Universitario"La Pa"Madrid MadridSpain

Background Over the last two decades,umbilical cord blood(UCB)and haploidentical transplantation(HaploHSCT)have emerged as alternative sources of hematopoietic stem cell for allogeneic *** are few retrospective studies and no prospective studies comparing both types of alternative transplantation in pediatric *** We analyzed the data of 134 children with hematological malignancies who received a hematopoietic stem cell transplantation from a single umbilical cord blood(UCB)(n=42)or an"tex-vivo"T-cell depleted transplant from a haploi-dentical-related donor(HaploHSCT)(n=92)between 1996 and *** recovery was faster after HaploHSCT than the UCB transplant group(median times to neutrophil and platelet recovery:13 vs.16 days,10 vs.57 days,respectively)(P<0.001).The HaploHSCT group had a significantly early immune reconstitution based on NK and CD8+T cells compared with the UCB ***,after the first year *** had a lower number of CD4+ T and B lymphocytes compared with the UCB transplant *** cumulative incidence of TRM was 29±8%in the HaploHSCT group versus 40±5%in the UCB *** incidence was 21±7%in the HaploHSCT group and 19±8%in the UCB *** of DFS was 58±8%in the HaploHSCT group versus 40±9%in the UCB group(P=0.051).Conclusions TCD haploidentical transplant is associated with advantages in terms of engraftment and early immune reconstitution *** haploidentical transplant was associated with lower incidence of infectious and non-infectious complications,especially in the early phases of the transplant compared with UCB transplant ***,there are no advantages in transplant outcomes compared with UCB transplant.

关键词： Children Cord blood transplant Hematologic malignancies Immune reconstitution TCD haploidentical transplant

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