73 research outputs found
Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy
No full text[Background]: Primary CoQ deficiency occurs because of the defective biosynthesis of coenzyme Q, one of the key components of the mitochondrial electron transport chain. Patients with this disease present with a myriad of non-specific symptoms and signs, posing a diagnostic challenge. Whole-exome sequencing is vital in the diagnosis of these cases.[Case]: Three unrelated cases presenting as either encephalopathy or cardiomyopathy have been diagnosed to harbor a common pathogenic variant c.370G > A in COQ4. COQ4 encodes a key structural component for stabilizing the multienzymatic CoQ biosynthesis complex. This variant is detected only among East and South Asian populations.[Conclusions]: Based on the population data and our case series, COQ4-related mitochondriopathy is likely an underrecognized condition. We recommend including the COQ4 c.370G > A variant as a part of the screening process for mitochondriopathy in Chinese populations.This work was supported by the S.K. Yee Medical Foundation, Hong Kong
Multiplexed protein biomarker analysis on silicon photonic microring resonators: translation towards clinical diagnostics
No full textProtein biomarkers are valuable indicators of human physiological states. In clinical practice, they play a strong role in presymptomatic diagnosis of various diseases, as well as evaluation of disease prognosis and aid in treatment decisions making. Due to the importance of biomarkers, much efforts were made towards the discovery of good biomarker candidates, analytical methodologies for biomarker detection and quantitation, and ultimately, translation of the developed analytical platform to detect novel biomarkers in clinical practice.
This dissertation places stronger emphasis on the latter two aspects of protein biomarker research: detection of biomarkers through immunoassays development, and translation of optimized assays to clinical samples analysis. For the immunoassays development aspect, assays described in this thesis were developed on a platform based on silicon photonic microring resonator technology. This sensing technology has high potential for clinical diagnostics utility, as sensor chips of this platform can be cheaply manufactured through a highly scalable process. Moreover, continuous improvements in sensor chip designs allowed rapid increase of biomarkers that can be detected simultaneously in a multiplexed panel. Multiplexed measurements are desirable due to the heterogeneity of the human population, and in many instances quantitation of multiple biomarkers are necessary to identify the disease state. Additionally, the latest generation sensing platforms have integrated fluidic systems that can be programmed for immunoassay automation, which shortens intensive training required for clinical laboratory personnel to perform assay runs.
For the translational aspect of applying novel biomarker detection to the clinical laboratory, collaborations have been established with hospital physicians for access to clinical samples from diseased patients. Blood serum or plasma samples from these patients have been evaluated by the immunoassays developed on the microring resonator platform, and results from the platform’s measurements are then evaluated against other established immunoassay techniques to assess assay performance. Translational research in clinical diagnostics is a trial and error process. Good immunoassays developed for novel biomarkers might not have good diagnostics value once placed into clinical evaluations, and thus the biomarker discovery and assay development research phases repeats through again.
This doctoral dissertation describes the progress of immunoassay development throughout the continuous improvements in the microring resonator platform, and eventually translates some of the developed assays to clinical samples analysis. Chapter 1 contains an introduction to protein biomarker immunoassays and their translational research value, with a more in depth description of microring resonators operation principles and the progression of the sensing platform development. Chapter 2 describes a simple detection of ricin toxin to illustrate the utility of microring resonators for protein analysis. Chapter 3 focuses on the development of an 8-plex panel to detect cancer biomarker that utilizes a protein multilayer strategy to improve assay signals. Chapter 4 explores the clinical utility of the platform by detecting monocyte chemactic protein-1 in human serum matrix. Chapter 5 describes the detection and quantitation of cardiac troponin I in serum samples from cardiac disease patients. Chapter 6 demonstrates the development of a multiplexed assay panel to detect 12 immunoregulatory markers associated with sepsis, as well as application of the panel to test plasma samples from septic patients at the intensive care unit of a local hospital. Finally, Chapter 7 outlines the future work related to the cardiac troponins project and the sepsis project described in the previous two chapters.Submission published under a 24 month embargo labeled 'U of I Access', the embargo will last until 2018-05-01The student, Winnie Shia, accepted the attached license on 2016-04-18 at 11:22.The student, Winnie Shia, submitted this Dissertation for approval on 2016-04-18 at 11:23.This Dissertation was approved for publication on 2016-04-18 at 16:23.DSpace SAF Submission Ingestion Package generated from Vireo submission #9291 on 2016-07-07 at 13:49:55Made available in DSpace on 2016-07-07T20:27:36Z (GMT). No. of bitstreams: 6
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Previous issue date: 2016-04-18Embargo set by: Seth Robbins for item 93131
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Reason: Author requested U of Illinois access only (OA after 2yrs) in Vireo ETD systemEmbargo set by: Seth Robbins for item 93131
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Reason: Author requested U of Illinois access only (OA after 2yrs) in Vireo ETD systemU of I Only Restriction Lifted for Item 93131 on 2018-07-08T09:15:20Z
Passenger Transfer Chain Analysis for Reallocation of Heritage Space at Amsterdam Central Station
No full textAmsterdam Central Station is the second busiest station in The Netherlands. Several bottlenecks in the 125 years old monumental station exist due to present train and pedestrian volumes. Further traffic growth is expected. To understand and quantify the options for redesign, a thorough understanding of the interaction between the core traffic functionalities is required. The paper will demonstrate high-level evaluations of different train positions, train schedules and platform exits, using a tailor-made macroscopic passenger transfer chain model. This approach, the model and the outcomes helped the stakeholders involved to reach consensus regarding the choices to be made for the future.Transport & PlanningCivil Engineering and Geoscience
J Early Hear Detect Interv
No full textPurpose:To describe an evaluation conducted by 39 state Early Hearing Detection and Intervention (EHDI) programs on the reporting process and system usability for audiologists when reporting the hearing test results to the EHDI program and the barriers encountered during reporting.Method:Each author independently extracted numbers, percentages, and texts from the evaluation reports into an Excel spreadsheet, which then became the dataset. Authors then compared and cross-checked the datasets before coding. Texts conveying similar concepts were coded with the same name and organized into categories. Finally, thematic identification and analysis were performed when a theme(s) or concept(s) that pertained to similar challenges encountered by audiologists was identified and organized under a higher-order domain.Results:Some audiologists reported no barriers when reporting hearing test results to the state EHDI programs. Among those audiologists who reported barriers, the most recurrent barrier was a non-user-friendly data system design. The second most recurrent barrier was not having adequate administrative time to report data as a busy clinician. The third most recurrent barrier was an incomplete understanding of the state EHDI reporting requirements. Finally, the method audiologists were required to use when reporting results also posed some challenges, such as no internet connection in rural areas when required to report via an internet portal.Conclusion:Because of the wide variety of barriers faced by audiologists, multiple strategies to improve the reporting process would likely be beneficial.CC999999/ImCDC/Intramural CDC HHSUnited States
Perception of first-year teachers concerning the extent to which a mentoring program helps to establish efficacy with regards to organizational skills, effective classroom management skills, creative instructional strategies and strategies for retention intentions, 2009
No full textThe purpose of this study was to ascertain the impact of an effective mentoring program upon first-year teachers to acquire efficacy in the areas of organizational skills, effective classroom management skills, creative instructional strategies and strategies for retention intentions. A Mentor Teacher Survey Instrument was administered to new teachers in six middle schools and 27 respondents provided completed surveys. The data were computed using Cronbach coefficient alpha and correlations using version 16.0 of the Statistical Package for the Social Sciences (SPSS). Cronbachs alpha coefficients computations for each subscale were as follows: .883, organizational skills subscale, .796, classroom management subscale, and .910 instructional strategies subscale. The one-sample t tests were performed to compare the mean responses of the non- demographic survey items with the neutral test value of 3.0. A bivariate correlation was used to determine the relationship between first-year teachers sense of efficacy for organizational skills, classroom management, instructional strategies and retention intentions. The statistical significance was established at the .05 level of probability. The SPSS 16.0 bivariate correlation procedure computed Pearsons product-moment coefficient (r) and Spearmans rho (p), to measure the strength of the correlation. A point biserial application of the Pearson correlation was used because one of the variables was dichotomous and the second variable was measured on an interval or ratio scale. An alpha level of .05 was set a priori was used to determine if significant differences! relationships existed between variables of interest. The SPS S data revealed a null hypothesis thus indicating that the respondents expressed a neutral attitude concerning their mentoring experience. The respondents responses revealed 314 negative responses out of a total of 460 positive responses. These 314 responses were computed as the lowest scores assigned by the Likert Scale. A comprehensive study was conducted in 2001 and the researcher made recommendations to the school district to revamp their induction/mentoring program and the system ignored the recommendation; therefore, this researcher supports the 2001 study and confirms that the local school district needs to make significant modification to their induction/mentoring program
Study of effective particle shape-dependent magnetization behavior of soft magnetic polymeric composites
No full textThis reports an investigation of the effect of magnetic particles with same chemical composition but different aspect ratios on the effective magnetization response of magnetorheological elastomers (MREs). MREs are composites that consist of magnetically permeable particles dispersed in a non-magnetic polymeric matrix. These materials are known for the tunability of their magnetoelastic properties. When subjected to an externally applied magnetic field, changes occur in their mechanical properties such as stiffness; this is the so-called magnetorheological (MR) effect. This is usually attributed to the magnetic interactions between the magnetic filler particles. Several factors significantly influence the MR effect. These are the polymer matrix, volume fraction, size, and shape of the magnetic particles. In this study, based on continuum formulation theory, microscale modeling using a finite element analysis (FEA) was used to determine the effect of the latter on the macroscopic magnetization of MREs. Using Jiles-Atherton hysteresis model parameters, the hysteresis loops of MRE were numerically resolved in the FEA software COMSOL Multiphysics. The model calculations were performed for randomly oriented (unaligned) and aligned microstructures with constant particle-volume fraction (φ= ∼20%) and varying particle-aspect ratios (AR=1, 2.5, 5 and 7.5). A computational homogenization scheme was used to relate the microscopic behavior to the macroscopic properties of these composites. From the analysis, it was found that for unaligned MRE the effective magnetization increased with increase in the particle aspect ratio, particularly in the linear region, while the saturation magnetization is seen to be independent of the particle shape. The effect is much more noticeable for particles aligned with the applied field, while for particles aligned perpendicular to the applied field an opposite effect is seen, where increasing aspect ratio results in decreased magnetization relative to the applied field.This article is published as Kiarie, Winnie M., Dylan Sitarski, and David C. Jiles. "Study of effective particle shape-dependent magnetization behavior of soft magnetic polymeric composites." AIP Advances 12, no. 3 (2022): 035115. DOI: 10.1063/9.0000344. Copyright 2022 The Author(s). Attribution 3.0 International (CC BY 3.0). Posted with permission
[[alternative]]A Study on the Effects of Both Functional Assessment and Parcel Strategies Approaches on the Spitting Problematic Behavior for an Autistic Child in the Elementary School
No full text[[abstract]]The study aimed to examine the effectiveness of the “ Functional Assessment” and “Parcel Strategies” approaches on the spitting problematic behavior of an autistic child. The subject selected from one special education class of a primary school in Taipei is an autistic child with moderate mental retarded handicap.
The purposes of the researcher are to reduce the child severe spitting problematic behavior over 2 years, and then in order to form a living style of looking- adorning and sanitation.
The multiple baselines across settings of single subject research was conducted to analyze the effects of the treatment； establishing the baseline, intervention, maintenance, and follow-up were included as well. The 3 settings were resource room, sensory integrative room , and room of self-help skills.
The obtained results of this present study indicated that:
(1). Functional Assessment approach had been proved to be a
good strategy in finding the functions of the spitting
problematic behavior.
(2). Parcel Strategy 1 :“ Overcorrection”and“ DRO”had been
proved to reduce the times of spitting problematic behavior
about 80%.
(3). Parcel Strategy 2 :“ Overcorrection”and“ Gentle
Teaching ”had been proved to keep on reducing the times of
spitting problematic behavior up to 90%.
(4). Parcel Strategy 3 :“ Overcorrection”and“ Environment-
restucting (A-B-C analysis)”had been proved to keep going
on reducing the times of spitting problematic behavior up to
more over 90%.
Ultra-Structural Surface Characteristics of Dental Silane Monolayers
No full textThis study aims to study the formation quality of the film of dental silanes. Two dental silanes, 3-methacryloxyproyltrimethoxysilane (MPS) and 3-acryloyloxypropyltrimethoxysilane (ACPS), were deposited on the silica glass-equivalent model surface (i.e., n-type silicon(100) wafer) by varying the deposition time (5 h and 22 h). The film quality was then evaluated by ellipsometry, surface contact angle (CA) and surface free energy (SFE), atomic force microscopy (AFM) and X-ray photoelectron spectroscopy (XPS) in survey and high-resolution modes on Si2p, O1s and C1s. Ellipsometry confirmed that both silanes at the two different deposition times would produce 0.85–1.22 nm thick self-assembled monolayer on the silicon wafer surface. While the water CA of silanized surfaces (60.7–71.5°) was larger than the surface without silane (29.6°), the SFE values of all silanes (40.0–44.5 mN/m) were slightly less than that of the wafer surface (46.3 mN/m). AFM revealed that the MPS with 22 h silanization yielded a significantly higher roughness (0.597 μm) than other groups (0.254–0.297 μm). High-resolution XPS on C1s identified a prominent peak at 288.5 eV, which corresponds to methacrylate O-C*=O, i.e., the silane monolayer is extended fully in the vertical direction, while others are in defect states. This study proves that different dental silanes under various dipping times yield different chemical qualities of the film even if they look thin physically
Que preto seja sinônimo de glória: a construção de identidade negra a partir de referenciais estéticos afrofuturistas presentes no álbum Black is King
No full textEsta monografia tem como principal objetivo analisar o uso da estética afrofuturista, presente no álbum visual Black is King da cantora Beyoncé, lançado em 2020 pela plataforma Disney+, e identificar as contribuições da obra como ferramenta para a construção de uma identidade negra na contemporaneidade. Para atender os elementos principais do objetivo, a pesquisa explora os conceitos constituintes de uma identidade negra afrodiaspórica por meio de uma relação com a cultura e o devir negro e sua relação com a música como instrumento de pertencimento apresentando os autores Paul Gilroy (2001), Stuart Hall (2000, 2002 e 2006) e Simon Frith (1987, 1990 e 1996) como principais teóricos para a abordagem entre outros. Para a fundamentação do afrofuturismo, a autora da monografia buscou explorar o contexto histórico e atuação deste movimento na sociedade. A base teórica está fundamentada nas produções dos autores Mark Dery (1994) José Messias e Kênia de Freitas (2018), Fábio Kabral (2019) e outros. O audiovisual e seus desdobramentos estão fundamentos pelos autores Leonam Dalla Vecchia (2017, 2020), Cara Harrisson (2014) e outros. A metodologia aplicada foi inspirada na análise de conteúdo de Laurence Bardin (2011) com as contribuições de Núncia Constantino (2002) na qual foram definidas categorias para explorar o objeto de análise: a) afrofuturismo através do viés da ancestralidade e ficção científica; b) representação negra e c) feminismo negro. A autora concluiu que as estéticas afrofuturistas presentes no álbum refletem o sentimento de representatividade e estabelecem parâmetros consistentes para construção de indentidades negras.This monograph has as main objective to analyze the use of Afrofuturist aesthetics, present in the visual album Black is King by the singer Beyoncé, released in 2020 on the Disney+ platform, and to identify the contributions of the work as a tool for the construction of a black identity in contemporary times. To meet the main elements of the objective, the research explores the constituent concepts of an Afrodiasporic black identity through a relationship with culture and becoming black and its relationship with music as an instrument of belonging, presenting the authors Paul Gilroy (2001), Stuart Hall (2000, 2002 and 2006) and Simon Frith (1987, 1990 and 1996) as the main theorists for the approach, among others. For the foundation of Afrofuturism, the author of the monograph sought to explore the historical context and role of this movement in society. The theoretical basis is based on the productions of the authors Mark Dery (1994) José Messias and Kênia de Freitas (2018), Fábio Kabral (2019) and others. The audiovisual and its developments are fundamentals by the authors Leonam Dalla Vecchia (2017, 2020), Cara Harrison (2014) and others. The applied methodology was inspired by the content analysis of Laurence Bardin (2011) with the contributions of Núncia Constantino (2002) in which categories were defined to explore the object of analysis: a) Afrofuturism through the bias of ancestry and science fiction; b) black representation and c) black feminism. The author concluded that the Afrofuturist aesthetics present in the album reflect the feeling of representativeness and establish consistent parameters for the construction of black identities
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