Dissertations / Theses on the topic 'Diagnostic tool development'
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Zamani, Ali. "Cross-Platform Diagnostic Tool." Thesis, Mittuniversitetet, Avdelningen för informations- och kommunikationssystem, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:miun:diva-19830.
Full textMÅNSSON, STAFFAN. "Lymphedema Assessment –Development of a Diagnostic Tool." Thesis, KTH, Maskinkonstruktion (Inst.), 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-145063.
Full textTo improve the frequently performed lymphedema measuring session – important for an earlydetection of the disease – a novel device was evaluated and further developed in this study.Lymphedema appears as limbs swelling, often arms and legs, partly because of cancertreatment. The current assessment technique includes several circumference measurements witha regular tape measure, and the method had room for improvement regarding consistency andeffectiveness. Different clinicians may pull the tape measure differently while measuring thecircumferences of a patient’s limb. An additional skin compliance evaluation, performed by theclinicians, could be quantified and analyzed if the assessments were put into numbers.The goals of this project were to evaluate and improve the accuracy and precision of this noveldevice, as well as develop and integrate a feature for measuring skin compliance. Furthermore,a user interface adapted to the clinicians’ demands and a design adapted to testing and futuremanufacturing was essential. Due to patient safety reasons, a part of the device was madereplaceable between patients.Developing the device, video recordings of hands-on testing were performed, as well as asurvey distributed to clinicians who provided lymphedema therapy. The circumferencemeasurement developed in this study was, according to the performed tests, accurate enoughcompared to the accuracy required the current measuring routine. An automatic calculation of askin bulk modulus K, was developed as a feature of the device to be able to obtain a value ofthe compliance clinicians felt for with their hands. The K-value was proven as a concept bymeasuring different foams. Measuring K-values of the tissue, the device was capable ofdetecting an increase in muscle tension, but results were only predictable to a certain limit inthe test presented in the report. The method could not yet be validated by comparing it to a skinhardness measurement with a durometer. A conclusion was however, that the K-value stillcould be a useful indicator in addition to the current assessment and that the device could savetime in the measuring session. This saved time could be used for more measurement sessions,beneficial in order to detect lymphedema early (Lawenda, Mondry, and Johnstone, 2009),which in turn was essential for a successful treatment.
Nordström, Mikael. "Diagnostic tool for React Native : Reporting application state." Thesis, Mittuniversitetet, Avdelningen för informationssystem och -teknologi, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:miun:diva-32800.
Full textAndersson, Daniel, and Patrik Sköld. "Evaluation of a diagnostic tool for use during system development and operations." Thesis, Linköping University, Department of Electrical Engineering, 2007. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-9567.
Full textRodon is a diagnostic tool developed by Sörman. SAAB’s interest in Rodon regards the possibility to use the tool for development and operations of aircraft systems. The main goal of this thesis was to evaluate the capacity of Rodon and determine how SAAB can use the diagnostic tool during development and operations.
The tool uses model based diagnosis with artificial intelligence for fault isolation which is a powerful approach. If Rodon is introduced at SAAB, then detailed models of systems will be necessary to create, including the nominal behavior of the system and different faulty behaviors. In order to achieve high quality fault isolation, it is necessary to have complete and consistent models. To be able to use all applications that Rodon feature for a modeled system, preferable characteristics are that the model should be static, have discrete control signals, and have well defined system behavioral modes.
During development of a system Rodon can be used to improve and easy the work for failure analysis, guidance of sensor placements, evaluation of tests, generation of decision structures, and fault isolation. Since design of tests during development is a desirable application that Rodon does not have, two different methods are presented that utilizes Rodon to generate all possible limit checking tests.
In conclusion, Rodon can be very useful in several different aspects if introduced, but benefits gained by using Rodon will have to be compared to the labor cost of creating good models.
Brahmbhatt, Shweta. "Development of synthetic peptide reagents as a diagnostic tool for leprosy." Thesis, London School of Hygiene and Tropical Medicine (University of London), 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.251991.
Full textKim, Austin H. (Austin Hakjin) 1980. "Development of a real time trimodal spectroscopy diagnostic tool for Barrett's esophagus." Thesis, Massachusetts Institute of Technology, 2002. http://hdl.handle.net/1721.1/29659.
Full textIncludes bibliographical references (leaves 76-79).
Barrett's esophagus (BE) is a condition of the lower esophagus caused by gastroesophageal reflux disease. Patients with BE have an increased probability of developing dysplasia, an abnormal growth or development of cells. This dysplasia in BE is a precursor to cancer of the esophagus, but is currently difficult to detect and diagnose. If the dysplasia is allowed to progress to cancer, it is very difficult to treat successfully. Treatment for dysplasia itself, however, is very effective if done at an early stage. The goal of this thesis project will be to develop a real-time tool that uses spectroscopy to improve upon the methods of detecting dysplasia in BE. This will involve analyzing spectra acquired from patients with BE using models and extracting quantitative information on different aspects of tissue morphology and biochemistry. Using this information, diagnostic algorithms will be developed, optimized and displayed to the physician through a useful interface.
by Austin H. Kim.
M.Eng.and S.B.
Gamboa, Pulido Pedro Miguel. "The development of a diagnostic tool for ciguatera fish poisoning in human serum." Diss., The University of Arizona, 1993. http://hdl.handle.net/10150/186396.
Full textGitchel, George Thomas Jr. "Development of an Accurate Differential Diagnostic Tool for Neurological Movement Disorders Utilizing Eye Movements." VCU Scholars Compass, 2015. http://scholarscompass.vcu.edu/etd/4109.
Full textYermak, Katsiaryna [Verfasser]. "Evaluation and development of a new diagnostic tool for early and reliable diagnostic of prosthetic joint infection / Katsiaryna Yermak." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2020. http://d-nb.info/1223929000/34.
Full textRoma, Elisa. "Evaluation of WATSAN technologies in developing countires : development and testing of a diagnostic tool." Thesis, Cranfield University, 2010. http://dspace.lib.cranfield.ac.uk/handle/1826/5444.
Full textBuxton, Robert. "Oil fingerprinting : the development of OPDS, a novel chemometric analysis and diagnostic pattern recognition tool." Thesis, Staffordshire University, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.489843.
Full textFike, Kate E. "DEVELOPMENT AND COMMERCIALIZATION OF CIRCULATING FETAL CELL BASED TECHNOLOGY AS A NON-INVASIVE PRENATAL DIAGNOSTIC TOOL." Case Western Reserve University School of Graduate Studies / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=case1621460632878665.
Full textMoore, Vicky Clare. "Development and validation of a diagnostic tool for occupational asthma based on serial lung function measurements." Thesis, University of Birmingham, 2010. http://etheses.bham.ac.uk//id/eprint/1094/.
Full textZUCCARO, LAURA. "Development of a diagnostic tool for the detection of the activity of the human topoisomerase IB." Doctoral thesis, Università degli Studi di Roma "Tor Vergata", 2013. http://hdl.handle.net/2108/204179.
Full textPARRELLA, SARA. "Screening of new candidate DBA genes and development of a new diagnostic tool based on rRNA analysis." Doctoral thesis, Università del Piemonte Orientale, 2016. http://hdl.handle.net/11579/115170.
Full textStaal, Rozemarijn Nathalie. "Diagnostic Accuracy in Dual Diagnosis: The Development of the Screen for Symptoms of Psychopathology in Individuals with Intellectual Disability (SSP-ID)." Wright State University Professional Psychology Program / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=wsupsych1347493083.
Full textChiasson, Mary Shannon C. "Site Visitation: School Leaders' Perceptions of a Diagnostic Tool for School Improvement." ScholarWorks@UNO, 2014. http://scholarworks.uno.edu/td/1908.
Full textShewell, Justin Reed. "Hearing the Difference: A Computer-Based Speech-Perception Diagnostic Tool for Non-Native Speakers of English." Diss., CLICK HERE for online access, 2004. http://contentdm.lib.byu.edu/ETD/image/etd456.pdf.
Full textGill, Josefin. "Ett verktyg som avser mäta omvårdnadsdiagnostisk förmåga." Thesis, Röda Korsets Högskola, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:rkh:diva-18.
Full textThe fact that nurses identify valid nursing diagnoses is important in order for patients to recieve the nursing care they need. Even though it is imposed on the nurse education to equip the future nurses with this ability, diagnostic competency in nursing isn’t tested among nurse students. There is in Sweden today no tool available for measuring diagnostic competency. The aim of this methodological study was to develop a tool that indended to measure diagnostic competency in nursing. The tool was developed gradually through cognitive interviews, in dialogue with experts and by having students and nurses complete a test in nursing diagnostics based on two case studies. The tool was validated in relation to nursing literature and measuring instruments along with an expert group. In addition to the test in diagnostic competency, the tool was also constituted of a point form, a manual for awarding points and a correcting model. The study created a tool that was sensitive for variations in knowledge within the test group and that seemed to have room for improved results. The point form, the manual for awarding points and the correcting model showed a high reliability. The abilities that the tool measure is the capability to distinguish relevant characteristics, make an analysis of the characteristics and the etiology together with labeling the diagnosis; i.e. analytic ability, logical reasoning and to some extent professional skills in nursing. Diagnostic competency embodies several different abilities and all of these can’t be measured by the developed tool.
Flores, Carolina. "Cassava Bacterial Blight : development of a performant molecular detection tool and diversity analysis of Xanthomonas axonopodis pv. manihotis populations in Venezuela." Thesis, Montpellier, 2017. http://www.theses.fr/2017MONTT161.
Full textCassava (Manihot esculenta L. Crantz) belongs to the group of roots and tubers and is cultivated in the tropics worldwide. This species is a nutritional alternative in many populations where no optimal crop production, general conditions nor technological support exist. Considering its potential uses, the global development of cassava crop has increased significantly but it is still considered a subsistence crop in poor regions lead by smallholder producers. Cassava is affected by biotic and abiotic factors during its life cycle, which heavily limiting its optimal performance. A variety of pests and diseases are known to affect cassava production. Among them are those caused by Xanthomonas axonopodis pv. manihotis (Xam) and Xanthomonas cassavae (Xc), causal agents of Cassava Bacterial Blight (CBB) and Cassava Bacterial Necrosis (CBN) diseases, respectively. CBB is considered the major bacterial disease that affects cassava crop worldwide which is also the case in Venezuela where it was first reported in the 70s. Since the 90s, studies were conducted to elucidate Xam genetic variability in different regions in the country, by means of different molecular tools available at that time. A high degree of polymorphism among the isolates was reported, whether collected from the same or different fields. The Xam population was distributed into eight clusters and no correlation was observed between genetic diversity and geographic origin.Our questions deal with the situation of CBB in Venezuela 20 years later : what is the current genetic diversity of Xam populations in Venezuela? what is the genetic structure of Xam populations and how do they differ with respect to Xam strains collected in 90s. Moreover, because Xam and Xc cause similar symptoms on cassava leaves and display similar physiological and morphological characteristics, we also aimed at developing a new molecular diagnostic tool allowing for fast and reliable detection of Xam and able to discriminate with Xc.To achieve our goals, we first established a duplex-PCR as a molecular detection tool of cassava-infecting xanthomonads. Based on in silico analysis of the genome sequences of 66 Xam and 1 Xc strains, we were able to select 6 Xam and 6 Xc primers pairs candidates, of which one set of primers for each was selected for further studies. We were able to develop a duplex-PCR assay that was validated upon testing 53 Xam strains and 25 Xc strains from different countries, 18 non-target strains, and 5 epiphytic strains associated to cassava, proving this technique a useful tool to detect and differentiate Xam and Xc from in vitro cultures and in planta.Secondly we assessed the diversity of Xam populations through a variable number of tandem repeat analysis (MLVA). A field survey conducted in six states in Venezuela enabled to evaluate the occurence of the disease, its status and allowed us to establish a strain collection for detailed diversity analysis. We isolated 202 Xam strains from six localities, localized in four states. Using a MVLA14-scheme, we analyzed 12 populations highlighting a high index of genetic diversity among and within populations, mainly in the east of the country.The development of this type of research is essential in the management of crops in the world and coupled with the existing agricultural policies, it will allow us to have a deeper understanding of pathogens of agricultural importance and the mechanisms involved in their establishment over time and across regions. The long-term objective of this is to apply control measures that are effective in time, thus establishing more stringent quarantine measures to prevent the spread of the disease
Bodén, Ida. "Near infrared and skin impedance spectroscopic in vivo measurements on human skin : development of a diagnostic tool for skin cancer." Doctoral thesis, Umeå universitet, Kirurgi, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-50605.
Full textMARANO, FRANCESCA. "Optimization of a pipeline for the development of recombinant monoclonal antibodies for diagnostics." Doctoral thesis, Università degli Studi di Trieste, 2020. http://hdl.handle.net/11368/2961110.
Full textIn diagnostics, many tools rely on the detection of specific markers in biological specimens and widely exploit the ability of antibodies to recognize their antigen. Thus, the implementation of the various processes ranging from antibody isolation to their high rate production is fundamental. Thanks to the advantages of recombinant DNA technologies, in vitro display methods have been developed for large scale isolation of monoclonal antibodies. Phage display is a technology based on the screening of an antibody library against a given antigen. The antibody library is usually composed of randomly combined immunoglobulin’s light and heavy variable domains fused with a coat protein of the bacteriophage M13. Each phage exposes on its surface a single peptide, so the coding sequence of the antibody fragments can be easily retrieved. The main objective of this work is to optimize a pipeline for recombinant monoclonal antibody development against antigens of diagnostic interest. This process begins with the isolation from a naïve phage library of clones able to recognize the antigen. Therefore, this work started with the creation and the characterization of a naïve phage display library. Once constructed the library, it has been validated with NGS to have an actual snapshot about library diversity and with Sanger sequencing to assess the quality of the coding sequences. To optimize and validate the whole pipeline, as a “pilot” antigen it has been chosen Interferon γ, a diagnostically relevant protein given its employment in the detection of tuberculosis. Different biopanning procedures allowed to isolate, overall, 25 different scFv. Thanks to a deeper characterization, performed on an automated platform designed for immunodiagnostic testing, it was possible to point out the best performing clones. Among them, two were chosen to be maturated to further enhance their affinity towards the antigen. Since it is well established the key role played by the VH in antigen recognition, it has been decided to create two new phage display libraries composed of scFv all bearing the VH of the two parental clones and a panel of VLs. The tailored selection procedure allowed to isolate two clones that seemed to perform better than the parental one on the automated platform. In a diagnostic setting, usually, full-size immunoglobulins are required, so, once selected, the antibody fragments are cloned in vectors allowing the expression in mammalian host cell lines. In this work a set of vectors allowing the expression of the human IgG, IgA, IgM and mouse IgG has been built. All the vectors have been transfected and antibody production was good also in terms of correct folding of the full-size immunoglobulin. The final step of validation of this whole pipeline consists in the expression of all the three anti-Interferon γ scFv as full-size immunoglobulin and the assay of their functionality on an automated platform as reagents in a commercial tuberculosis diagnostic kit.
Popescu, Antoaneta-Carina. "La mise en valeur du potentiel touristique dans les Souscarpates situées entre la rivière Olt et la rivière Motru." Thesis, Pau, 2015. http://www.theses.fr/2015PAUU1010/document.
Full textThe current research is based on the assumption that tourism stimulates the economic growth of an area through creating the added value, thus, enhancing the standard of living in the area in question (Bensahel, Donsimoni, 1999: 27). We aim to demonstrate that in the targeted area tourism can (re)produce development. Noticing the weak development (DGP below the European average) in a region rich in resources that may be exploited through tourism, we think that the multiplication of such projects may boost and support the development of the region, in compliance with the principles of sustainability. The thesis is divided in two main parts. The former, conceptual and methodological in nature, focuses on territorial planning, based on the territorial project for tourism development. The latter is concerned with the main stages of a territorial project for tourism development : territorial diagnosis and future development proposal. In the case of territorial diagnosis, we designed a tool to calculate the total touristic value of the territorial divisions in question and to collect data using a survey of tourism practices in the area. The findings allowed us to identify 4 local tourism systems that we suggest as touristic organisation types in the Sub-Carpathians, situated between the Olt Valley and the Motru Valley
Mahajan, Reenal R. "Usability Problem Diagnosis tool: Development and Evaluation." Thesis, Virginia Tech, 2003. http://hdl.handle.net/10919/33635.
Full textMaster of Science
Bhat, Nandan D. "Development of a bridge fault extractor tool." Texas A&M University, 2004. http://hdl.handle.net/1969.1/1342.
Full textZambon, Azevedo Vittoria. "Mise au point d’un nouvel outil diagnostique de l’obésité sarcopénique : relations avec la dysfonction du tissu adipeux, l’insulinorésistance et la sévérité de l’atteinte hépatique." Electronic Thesis or Diss., Sorbonne université, 2024. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2024SORUS170.pdf.
Full textSarcopenic obesity (SO) is a condition characterized by the coexistence of obesity and sarcopenia, the latter defined as a reduction in muscle mass and function. Diagnosing SO is highly complex due to the lack of universally accepted diagnostic criteria, leading to imprecise diagnoses and highly variable prevalence estimates. Given this scenario, this thesis aimed to develop an empirical diagnostic tool for SO using artificial intelligence, based on the analysis of body composition. We developed the AIM-SO score in a population of patients with overweight/obesity and tested it in two other populations: patients with severe obesity undergoing bariatric surgery (BS) and the general population of the UK Biobank. A longitudinal study with a one-year follow-up was conducted in subjects who underwent BS. We examined clinical correlations, particularly cardiometabolic and hepatic, including perioperative histological findings in the bariatric cohort. The prevalence of SO was similar across these three cohorts. SO diagnosed by the AIM-SO score was associated with multiple cardiometabolic comorbidities and more severe inflammatory and fibrosing liver damage. Despite weight loss, the metabolic benefit (remission of comorbidities) after BS was lower in patients with SO. Preliminary analyses of the UK Biobank cohort showed a significant association between SO diagnosed by the AIM-SO score and parameters of muscular functionality, particularly muscle strength. We propose this new diagnostic tool to standardize the SO diagnosis and identify patients with obesity and sarcopenia who exhibit more severe cardiometabolic and hepatic phenotype. Diagnosing SO could also inform the expected benefit of various weight loss interventions, thus contributing to personalized medical management
Mortimer-Jones, Sheila Mary. "Development of Diagnostic Tools for the Seed Potato Industry." Thesis, Mortimer-Jones, Sheila Mary (2010) Development of Diagnostic Tools for the Seed Potato Industry. PhD thesis, Murdoch University, 2010. https://researchrepository.murdoch.edu.au/id/eprint/3001/.
Full textChen, Xiaoming. "The development of a parameter estimation tool towards fault diagnosis." The Ohio State University, 1997. http://rave.ohiolink.edu/etdc/view?acc_num=osu1399563299.
Full textOkolie, Charles 'Emeka. "Development of Diagnostic and Theraputic Tools for Staphylococcus aureus Infections." Thesis, University of Nottingham, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.517830.
Full textLi, Zeyang. "Development of VHH- and antibody- based imaging and diagnostic tools." Thesis, Massachusetts Institute of Technology, 2018. http://hdl.handle.net/1721.1/118269.
Full textCataloged from PDF version of thesis.
Includes bibliographical references.
The immune system distinguishes self from non-self to combat pathogenic incursions. Evasion tactics deployed by viruses, microbes, or malignant cells may impede an adequate response. In such cases, therapeutic interventions aid in the elimination of pathogens and the restoration of physiological homeostasis. A major road block in the development of such therapies is the reliance on imperfect detection methods to identify site(s) of infection, or to monitor immune cell recruitment to sites of infection or inflammation in vivo. The goal of this thesis is overcome at least some of these limitations by utilizing novel tools that have been developed and refined in the laboratory to facilitate in vitro and in vivo characterization of specific immune subsets. We then track their recruitment to sites of active immune responses, such as infection or tumor progression sites. These tools consist of two components: one that confers specificity for immune cells and the other offers a site for labeling in a controlled manner. Single-domain antibodies (VHHs) from camelids are amongst the smallest (15 KDa) proteins that can recognize a diverse set of targets with excellent specificity. Chemoenzymatic labeling of molecules using sortase allows site-specific attachment of a single label of interest to the target protein containing the sortase recognition sequence LPXTG. VHHs specific for immune cell determinants labeled with sortase technology facilitate non-invasive and efficient monitoring of cells that infiltrate immunological niches in vivo in a manner not possible until now. This thesis presents the development of novel methods to allow in vitro and in vivo detection and imaging of specific immune subsets and their recruitment to sites of an active immune response. This thesis aims to (1) use DNA oligomers as a scaffold to push the limits of fluorescence labelling yield (2) create small and efficient biosensors for the rapid capture of specific lymphocyte subsets from peripheral blood samples using VHHs and graphene oxide nanosheets (3) develop radioisotope-labeled VHHs to track immune cell subsets to elucidate the roles of innate and adaptive immune components in the course of infection. Chapter 1 describes a new method for protein labeling via site-specific modification of proteins using a DNA scaffold. To avoid self-quenching of multiple fluorophores localized in close proximity, Holliday junctions were used to label proteins site-specifically with fluorophores. Holliday junctions enable the introduction of multiple fluorophores with reasonably precise spacing to improve fluorescence yield for both single domain and full-sized antibodies, without deleterious effects on antigen binding. Chapter 2 presents a biosensor generated for characterization of leukocytes from whole blood using a graphene oxide surface coated with single domain antibody fragments. This format allows quick and efficient capture of distinct white blood cell subpopulations from small samples of whole blood in a format that does not require any specialized equipment such as cell sorters or microfluidic devices. Chapter 3 documents a non-invasive immune-PET imaging method for tracing CD8+ T cells in the course of influenza A infection to better elucidate their protective mechanism(s) and immunopathological effects.
by Zeyang Li.
Ph. D.
Fuster, García Carla. "Therapeutic approaches and development of genomic diagnostic tools for Usher syndrome." Doctoral thesis, Universitat Politècnica de València, 2020. http://hdl.handle.net/10251/137034.
Full text[CAT] La síndrome d'Usher (USH) és una malaltia rara autosòmic recessiu definit principalment per sordera neurosensorial (SNHL) i una distròfia retiniana coneguda com a retinosi pigmentària (RP). La patologia mostra heterogeneïtat genètica, ja que es coneixen almenys 10 gens responsables. No obstant això, les mutacions en USH2A són la causa més freqüent de la malaltia, a causa de la recurrència de la variant patogènica c.2299delG. En aquesta tesi s'ha desenvolupat un assaig d'edició gènica per a revertir la dita anomalia genètica per mitjà del sistema CRISPR/Cas9. Es van dissenyar i van probar diversos complexos CRISPR específics de locus, i el més eficient va ser usat per a la correcció de la mutació en cèl·lules derivades de pacients. La taxa de correcció de la mutació obtinguda va ser del 2.5%. Un altre objectiu d'aquesta tesi ha sigut la caracterització genètica de pacients USH encara sense diagnòstic molecular. Una primera fase va implicar la seqüenciació massiva dirigida de les regions codificants de tots els gens associats a la malaltia. Aquest estudi, la cohort de la qual va incloure 58 pacients no escrutats prèviament, va permetre la identificació de 42 noves mutacions presumptament patològiques, i una taxa general de detecció d'al·lels responsables de la malaltia de pràcticament el 83%. Sorprenentment, un dels subjectes presentava mutacions en CEP250, un dels últims gens correlacionats amb la malaltia. Una exhaustiva revisió clínica va revelar que la degeneració retiniana es tractava en realitat d'una distròfia de cons i bastons en lloc de RP clàssica. Aquestes troballes han permés la consolidació del gen CEP250 com a responsable d'un fenotip similar al USH. La resta de casos sense resoldre induïx a sospitar de l'existència d'altres gens vinculats amb USH. Així, doncs, es va analitzar l'exoma íntegre dels casos negatius del panell a través de seqüenciació d'exoma complet, cosa que va proporcionar resultats rellevants en sis de les mostres estudiades. Un de tals subjectes va resultar ser un clar cas de fenocopia d'USH, a l'albergar mutacions patogèniques en dos gens independents, TECTA i REEP6, sent el primer responsable de la SNHL i el segon de la RP. De forma semblant, en un altre pacient es van detectar variants patològiques per a RP al gen EYS, però no es va identificar paral·lelament cap canvi genètic que explicara la SNHL. Tres individus addicionals van resultar haver sigut erròniament diagnosticats com USH, donada la final inexistència o ambigüitat de la sordera. Un d'ells va ser definit com a homozigot d'una mutació en CNGB1, ja reconegut com a responsable de RP. En el segon d'aquestes subjectes es va identificar una mutació en homozigosi en el gen GRN, els defectes del qual estan associats a demència frontotemporal en estat heterozigot, i més rarament en combinació amb RP si ambdós al·lels es troben alterats. D'altra banda, el tercer pacient va ser resolt com a heterozigot compost de variants en WDR19, un gen associat en major grau a una distròfia retiniana acompanyada de trastorns renals i, més rarament, a la forma aïllada del símptoma. En l'últim dels sis casos ressaltats d'aquest objectiu es va detectar una mutació homozigota sense sentit en el gen ASIC5, el paper en l'organisme del qual encara es desconeix. Amb tot, s'han correlacionat funcions visuals i auditives per a membres de la mateixa família proteica. En conjunt, les troballes obtingudes en aquest treball avalen la importància de l'ús de les més noves tecnologies en la recerca de solucions per a malalties rares, les quals presenten per ara un pronòstic terapèutic prou desemparat. Així mateix, altres conseqüències positives quant a la caracterització genètica dels pacients són la corroboració (o rectificació) del diagnòstic inicial, així com la contribució a l'estimació demogràfica i correlacions de genotip-fenotip, que en definitiva ajuden en la compressió d'US
[EN] Usher syndrome (USH) is a rare autosomal recessive disorder defined essentially by sensorineural hearing loss (SNHL) and a retinal dystrophy known as retinitis pigmentosa (RP). The condition shows a genetic heterogeneity, since there are at least 10 genes known to be causative of the syndrome. However, mutations in USH2A are the most frequent cause of the disease, due in a large measure to the recurrence of the c.2299delG pathogenic variant. A gene editing assay to reverse this specific genetic anomaly was developed in this thesis by means of the groundbreaking CRISPR/Cas9 system. Several locus-specific CRISPR complexes were designed and tested, and the most efficient was used to proceed with the c.2299delG mutation correction on patient-derived cells. The trial resulted in a mutation correction rate of 2.5%. Another goal of this thesis was the genetic characterization of molecularly undiagnosed USH patients. Given the genetic diversity of the disease, the procedure required the implementation of high-throughput sequencing, a technology that enables in bulk sequencing of any number of selected loci (or the indiscriminate totality) of the genome. The first phase implied the targeted sequencing of the coding-relevant regions of all known causative or disease-associated genes at the moment. The study, comprising a cohort of 58 previously unscreened patients, enabled the identification of 42 novel putative pathogenic mutations, and an etiologic-allele detection ratio shy of 83%. Remarkably, one of the subjects harbored nonsense mutations in CEP250, which is one of the latest USH-associated genes. However, an exhaustive review of the clinical features unmasked the retinal degeneration as a cone-rod dystrophy rather than RP, which reinforced the linkage of the gene to an USH-like phenotype. The remaining portion of unresolved cases lead to suspicion of the existence of other genes accountable for USH. Hence, the complete exome of such panel-negative cases was screened through whole exome sequencing. This venture provided relevant findings in six of the surveyed samples. One subject was plainly exposed as an USH phenocopy by harboring pathogenic splice-site mutations in two independent genes, TECTA and REEP6, the former responsible for the SNHL and the latter for the RP. Similarly, RP-causative variants in EYS were detected in another patient, yet no pathogenic changes explaining the HL were discovered. Three additional individuals were ultimately unveiled as USH misdiagnosed cases, being the HL actually absent or ambiguous. One of the patients in this set was homozygous for a mutation in CNGB1, already known to be accountable for RP. The other two cases showed a more peculiar outcome being compound heterozygous for putatively pathogenic variants in genes generally associated to other disorders. One presented a homozygous mutation in GRN, a gene associated to frontotemporal dementia under heterozygous condition and less commonly to combined RP for homozygous alterations. The third subject was found to be a carrier of mutations in WDR19, a gene best associated with retinal disorders accompanied by renal signs and rarely with the isolated visual symptom. The last case presented a homozygous nonsense variant in the ASIC5 gene, whose role has yet to be learned. However, some correlations to visual and hearing functions have been reported for members of the same protein family. Altogether, the results obtained from this work attest to the importance of applying the most up-to-date technologies in the search of solutions for rare diseases that realistically pose a despairing therapeutic prognosis. In addition, the positive consequences of the genetic characterization of the patients are the corroboration (or else correction) of the initial diagnosis, and the contribution to the appraisal of demographic and genotype-phenotype correlations, which ultimately aid in the understanding USH and other related diseases.
This work was financially supported by the Institute of Health Carlos III and FEDER funds (ISCIII; grants PI13/00638, PI16/00425, PI16/00539, and PIE13/00046), Fundación ONCE (grant 2015/0398), XVIII Fundaluce-FARPE, and “Telemaratón: Todos Somos Raros, Todos Somos Únicos” (grant IP58). C.F.-G. is a recipient of a fellowship (grant IFI14/00021) from the ISCIII. R.P.V.-M. is a Miguel Servet researcher (grant CP11/00090 funded by ISCIII, Madrid, Spain). The funds from the ISCIII are partially supported by the European Regional Development Fund. R.-P.V.M. is also a Marie Curie fellow (grant CIG322034 from the European Commission).
Fuster García, C. (2020). Therapeutic approaches and development of genomic diagnostic tools for Usher syndrome [Tesis doctoral no publicada]. Universitat Politècnica de València. https://doi.org/10.4995/Thesis/10251/137034
TESIS
Ebai, Tonge. "Development of Enhanced Molecular Diagnostic Tools for Protein Detection and Analysis." Doctoral thesis, Uppsala universitet, Molekylära verktyg, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-320380.
Full textALBERTI, Giusi. "Glioblastoma: development of new diagnostic tools based on EV-associated proteins." Doctoral thesis, Università degli Studi di Palermo, 2021. http://hdl.handle.net/10447/525186.
Full textFeng, Tony S. M. Massachusetts Institute of Technology. "Property-level performance attribution : demonstrating a practical tool for real estate investment management diagnostics." Thesis, Massachusetts Institute of Technology, 2010. http://hdl.handle.net/1721.1/62050.
Full textCataloged from PDF version of thesis.
Includes bibliographical references (p. 141-142).
Real estate investment firms have the ever increasing need for understanding their firm's strengths and weaknesses, their performance relative to their peers and competitors, and for developing assessment tools for facilitating more informed investment and management decisions. One potentially very useful tool to further these objectives, a tool that is so far underutilized and underappreciated, is investment performance attribution analysis. Such performance attribution may be broadly characterized as the partitioning of the total investment return of a particular manager or portfolio in order to quantify and help to understand and assess the components and determinants of the overall investment performance. Traditional investment attribution analysis, adopted from the securities investment industry, has focused primarily on the portfolio level, where property selection and allocation factors are the two primary attributes of total return that can be parsed and benchmarked. In the case of real estate investments, property-level investment functions such as operational management and asset transaction execution, which are not captured by a traditional attribution analysis, also play a major role in the overall investment returns. During the past two decades a system to drill the investment performance attribution down to a deeper level, separating the asset "selection" component into further breakouts, including income return and components of the capital return (cash flow change and yield change), have been propounded by influential firms such as the Investment Property Databank (IPD) based in the UK. In a 2003 article David Geltner proposed a system for property-level performance attribution (PPA) based on the since-inception IRR of each individual property investment. This thesis furthered Geltner's work on PPA by an in depth exploration of the application of the IRR-Based Property-Level Performance Attribution analysis based on a large-scale, real-world-based case study of a complete set of actual core-asset round-trip transactions completed by several internally managed funds in the institutional investment industry. Furthermore, this thesis explored the use of PPA for organizational management diagnostics, and thereby demonstrated the potential of using the PPA analysis as an investigative tool for developing plausible hypotheses about a firm's investment management strengths and weaknesses.
by Tony Feng.
S.M.in Real Estate Development
Fluegel, Amanda M. "Validation of diagnostic assays and development of molecular epidemiological tools for brucellosis." Laramie, Wyo. : University of Wyoming, 2008. http://proquest.umi.com/pqdweb?did=1594477821&sid=1&Fmt=2&clientId=18949&RQT=309&VName=PQD.
Full textMorris, Diane. "Investigation of the picture-word interference task as a diagnostic tool for developmental dyslexia /." Title page, contents and abstract only, 1987. http://web4.library.adelaide.edu.au/theses/09ARPS/09arpsm875.pdf.
Full textCurrie, Cailin Tricia. "Student Motivation Profiles as a Diagnostic Tool to Help Teachers Provide Targeted Support." PDXScholar, 2018. https://pdxscholar.library.pdx.edu/open_access_etds/4229.
Full textau, c. smuts@murdoch edu, and Celia Smuts. "Development of diagnostic tools to improve the detection of Trypanosoma evansi in Australia." Murdoch University, 2009. http://wwwlib.murdoch.edu.au/adt/browse/view/adt-MU20090709.113425.
Full textMirzaee, Mehrdad. "Development of diagnostic tools to predict incidence of bitter pit during apple storage." Thesis, University of Greenwich, 2015. http://gala.gre.ac.uk/18210/.
Full textMalalasekera, Aruni Peiris. "Development of novel therapeutic and diagnostic approaches utilizing tools from the physical sciences." Diss., Kansas State University, 2016. http://hdl.handle.net/2097/35779.
Full textDepartment of Chemistry
Stefan Bossmann
Numerous Proteases are implicated in cancer initiation, survival, and progression. Therefore, it is important to diagnose the levels of protease expression by tumors and surrounding tissues, which are reflected in blood and tissue samples. Nanoplatforms for Cathepsin(CTS) B and L, matrix metalloproteinases(MMP) 1, 2, 3, 7, 9, 13 and urokinase plasminogen activator(uPA) detection have been synthesized. Nanoplatforms feature a central dopamine-coated core/shell Fe/Fe₃O₄ nanoparticle. Cyanine 5.5 is permanently tethered to the dopamine ligands via amide bonds. Tetrakis(4-carboxy-phenyl)porphyrin (TCPP) is co-tethered to Fe/Fe₃O₄/dopamine by means of protease consensus sequences. In the presence of a relevant protease sequence, it is cleaved, releasing TCPP from the nanoplatform. In contrast, Cy 5.5 will remain permanently tethered to the nanoparticle. Therefore, an extensive increase of emission intensity of the fluorescence signal from TCPP is observed. This permits the detection of the activity of proteases at femtomolar levels in biospecimens by fluorescence spectroscopy. 46 breast cancer and 20 healthy human blood serum samples were analyzed. Based on the expression pattern of analyzed enzymes, human breast cancer can be detected at stage I. By monitoring CTS B and L stage 0 detection may be achieved. This study demonstrates the feasibility of minimally invasive successful early cancer diagnosis. Immunosuppression is one of the hallmarks of aggressive cancers. Arginase is overexpressed in cancer patients, resulting in systemic immunosuppression. Two nanoplatforms for arginase detection have been synthesized. Both feature a central dopamine-coated core/shell Fe/Fe₃O₄ nanoparticle to which cyanine 7.0 or cyanine 7.5 is tethered via amide bonds. In both nanoplatforms, cyanine 5.5 is linked to the N-terminal of the peptide sequence GRRRRRRRG. Arginine (R) reacts to ornithine (O) in the presence of arginase. According to our results obtained from fluorescence spectroscopy, the oligopeptides GRRRRRRRG and GOOOOOOOG differ in their chain dynamics. In the presence of arginase, and dependent on arginase activity, fluorescence increase of both nanoplatforms is observed, which is an indication that proton-transfer quenching decreases when arginine gets converted to ornithine. The novel assays permit the detection of active arginase within an hour. Additionally, Förster Resonance Energy Transfer (FRET) is observed in nanoplatforms featuring cy 5.5/7.0 pairs, resulting in picomolar detection limits. This is the first example of a “post-translational” enzyme sensor, in which the tether is subjected to chemical transformations of the aminoacid side chains and not cleaved by an enzyme, resulting in the modified mobility of the tether. The nanoplatforms do not show a fluorescence increase when incubated with NO-reductase, an enzyme indicative of immunoactivation, which also uses arginase as substrate. Copper dependent inhibitory activity of 10000 compound library has been studied against of Staphylococcus aureus. 53 copper- dependent hit molecules were recognized featuring extended thiourea core structure with NNSN motif. NMR titrations, UV/Vis studies have been performed for characterization of metal complexation and structure modeling. Chemoinformatic meta-analysis of the ChEMBL chemical database confirmed the NNSNs as an unrecognized staphylococcal inhibitor, in spite of other compound groups in chemical screening libraries. This will lead to the development of novel class of antibacterial agents against Staphylococcus aureus.
Schräml, Michael. "In vitro protein engineering approaches for the development of biochemical, diagnostic and therapeutic tools." [S.l.] : [s.n.], 2005. http://deposit.ddb.de/cgi-bin/dokserv?idn=979554845.
Full textPang, Anthony. "Development and simulation of a cylindrical cusped-field thruster and a diagnostics tool for plasma-materials interactions." Thesis, Massachusetts Institute of Technology, 2013. http://hdl.handle.net/1721.1/82505.
Full textThis thesis was scanned as part of an electronic thesis pilot project.
Cataloged from PDF version of thesis.
Includes bibliographical references (p. 107-109).
A low power, Hall-effect type plasma thruster known as the MIT-Cylindrical Cusped- Field Thruster (MIT-CCFT) has been developed and simulated using a fully-kinetic plasma model, the Plasma Thruster particle-in-cell (PTpic) model. Similar to the Diverging Cusped-Field Thruster (DCFT) previously developed in the Massachusetts Institute of Technology Space Propulsion Laboratory, this thruster uses cusped magnetic fields aligned in alternating polarity in order to confine electrons, thus slowing their flow to the anode and readily ionizing neutral gas, which is then electrostatically accelerated by the anode. The design methodology for the CCFT will be discussed, with significant emphasis on the effects of magnetic topology on thruster performance. In particular, while the topology is similar to that of the DCFT in that it also confines the discharge plasma away from the channel walls to limit wall erosion, the CCFT was also designed to minimize plume divergence. To predict the CCFTs performance and plasma dynamics, the design has been modeled and simulated with PTpic. From multiple simulations of the CCFT under different operating conditions, the thruster performance and plume characteristics were found and compared to past simulations of the DCFT. Specifically, the predicted nominal total efficiency ranged from 25 to 35 percent, providing 4-9 mN of thrust at a fixed xenon mass flow rate of 4.0 sccm, whilst consuming 90-400 W of power and with a corresponding nominal specific impulse of 1050 to 1800 s. Preliminary observations of the particle moments suggest that the magnetic confinement of the plasma isolates erosion of the channel walls of the discharge chamber to the ring cusps locations. In addition, in contrast to the DCFT, the CCFT does not have a hollow conic plume; instead, its beam profile is similar to that of traditional Hall-effect thrusters. To supplement the efforts for optimizing longevity of the cusped-field thruster, a new diagnostic tool for erosion studies, novel to the electric propulsion community, has been implemented and has undergone preliminary validation. Ion beam analysis (IBA) allows for in-situ measurements of both composition and profile of the surfaces of the discharge region of a plasma thruster during operation. The technique has been independently tested on individual coupons with the use of the Cambridge Laboratory for Accelerator Study of Surfaces (CLASS) tandem ion accelerator. The coupons, which are composed of materials with known sputtering rates and/or are commonly used as insulator material, are exposed to helicon-generated plasma to simulate the sputtering/re-deposition found in thruster discharge region. Through comparison of ion beam analysis traces taken before and after plasma exposure, the effective erosion rates were found and validated against simulated results.
by Anthony Pang.
S.M.
Rodríguez, Pérez Eduardo M. "Study of cow subclinical hypocalcemia and development of new tools for its diagnostic and prevention." Doctoral thesis, Universitat Autònoma de Barcelona, 2015. http://hdl.handle.net/10803/323908.
Full textDairy cows suffer blood calcium (Ca) losses as lactation begins and might be affected by hypocalcemia in its clinical (serum Ca < 6mg/dL) or subclinical state (serum Ca < 8.5mg/dL). Since clinical incidence is only about 5%, the most relevant problem concerns subclinical cases (SCHC) because of a higher prevalence. These cases cannot be treated due to the lack of diagnostic tools. In order to study the impact, consequences and regulation of SCHC and to develop preventive and diagnostic strategies, four studies were conducted. In the first study, the association of SCHC with several periparturient diseases was evaluated. Seventy five percent of cows incurred SCHC. Displaced abomasum, ketosis, retained placenta, and metritis were more likely to happen in cows with SCHC. Affected cows had a greater milk production. Normocalcemic cows showed their first heat sooner. Also, the severity of SCHC is related to the severity of the different periparturient diseases. In order to understand the exact mechanisms involved, a second study was performed to clarify the potential roles of calcitonin in the onset of SCHC and in the prevention of hypocalcemia under metabolic acidosis. A calcitonin rise in severe SHCH cows after calving impairs the recovery of blood Ca because PTH receptor (PTHR) response is not sufficient to activate vitamin D and compensate the calcitonin effect. Metabolic acidosis prevents hypocalcemia because the expression of PTHR is up-regulated in kidney. Moreover, an impairment of calcitonin activity at low pH enhances the hypercalcemic role of PTH. Based on this calcitonin role, in the third study an approach to prevent hypocalcemia through passive immunization against calcitonin was tested. Polyclonal antibodies neutralized calcitonin in vitro and in a rat model, raising the blood Ca concentration. An affordable method of mass-production was designed from a naïve ScFv phage library. The ScFv B10 recognized and neutralized calcitonin in vitro, but it did not affect blood Ca levels when administered to cattle requiring further research to understand the main difficulties of the proposed strategy. A diagnostic system would be very useful to identify and treat hypocalcemic cows. In the fourth and last study we developed a portable semiautomatic analytical system based on ion-selective field effect transistors with Ca2+ ion selective photocurable membranes. This sensor determines bovine serum calcium concentration in a reliable and fast way and can be applied in the field in cow-side measurements.
Skounakis, Emmanouil D. "Development of advanced 3D medical analysis tools for clinical training, diagnosis and treatment." Thesis, Brunel University, 2013. http://bura.brunel.ac.uk/handle/2438/7967.
Full textCook, Beth Susannah. "Development of genetic tools for functional genomic analysis of Mycoplasma hyopneumoniae." Thesis, Royal Veterinary College (University of London), 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.618285.
Full textAbdo, Jasim. "Development of two diagnostic tools (ELISA and ICT) for detection of antibodies against ovine and bovine theileriosis." Diss., lmu, 2011. http://nbn-resolving.de/urn:nbn:de:bvb:19-129024.
Full textNakka, Sravya Sowdamini. "Development of novel tools for prevention and diagnosis of Porphyromonas gingivalis infection and periodontitis." Doctoral thesis, Örebro universitet, Institutionen för medicinska vetenskaper, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-52056.
Full textWurdeman, Bret Mark. "The evaluation and development of diagnostic tools for the detection of ichthyophonus hoferi in fish host tissue samples." University of the Western Cape, 2019. http://hdl.handle.net/11394/7868.
Full textIchthyophonus hoferi is a highly pathogenic histozoic parasite that has low host specificity capable of producing mass mortalities of epizootic proportions in marine commercial fish populations. Currently in Southern Africa, I. hoferi has been reported from flathead mullet (Mugil cephalus) from the Kowie lagoon and from multiple species on exhibit at the Two Oceans Aquarium. Since epizootiologists rely on accurate assessments of prevalence to establish patterns of morbidity and mortality within populations, using the most accurate diagnostic techniques for accurate assessments of infection is imperative. Currently, several diagnostic techniques have been employed to detect I. hoferi in infected fish hosts. These include macroscopic examination of tissues, microscopic examinations of wet-mount squash preparations of tissue, histological examination of tissue sections, in vitro culture of tissue explants, the polymerase chain reaction (PCR) using I. hoferi-specific primers and real-time quantitative PCR (qPCR) using I. hoferi-specific primers and a hydrolysis probe.
Gao, Anna. "Population biology of Propionibacterium acnes and Pseudomonas aeruginosa in ophthalmic infections and the development of novel diagnostic tools." Thesis, University of Warwick, 2009. http://wrap.warwick.ac.uk/2226/.
Full textMerla, Yu. "Development of new on-board battery diagnosis/prognosis tools for extending lifetime and mitigating failure." Thesis, Imperial College London, 2017. http://hdl.handle.net/10044/1/60668.
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