Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 20 of 22 for “"clinical heterogeneity"”.
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Human α-amylase: genetic, biochemical and clinical heterogeneity
This document only includes an excerpt of the corresponding thesis or dissertation. To request a digital scan of the full text, please contact the Ruth Lilly Medical Library's Interlibrary Loan Department (rlmlill@iu.edu).
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Methods for Exploring Heterogeneity in Systematic Reviews of Randomized Controlled Trials
… review of proposed methods of assessing clinical heterogeneity in meta-analyses of randomized controlled trials, 3. The application of permutation based resampling in meta-regression of multiple covariates. An analysis of 406 RCTs of herbal medicine interventions revealed that these …
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The Biological Basis of Heterogeneity in Parkinson's Disease - Insights from an Innate Immune Perspective.
The biological basis of the clinical heterogeneity in Parkinson’s Disease (PD) is unclear. It is likely to involve complex interactions between genetic and environmental factors and between a range of pathological processes, including protein homeostasis and immune system function. Microglial …
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Why do allelic variants of the mitochondrial chaperone SCO1 cause clinically heterogeneous forms of disease? A mouse model and proximity ligation study
… homeostasis. While SCO1 mutations result in clinically heterogenous forms of disease with fatal, neonatal outcomes, it remains unclear why allelic variants unique to each SCO1 pedigree primarily affect heart, liver or brain function. I therefore created and phenotyped three whole body Sco1 …
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Cognitive, Clinical, and Biomarker Correlates of Insight in Obsessive–Compulsive Disorder: preliminary results of a cross-sectional study
… behaviors. Increasing evidence suggests that its clinical heterogeneity reflects dysfunctions across cognitive, neurobiological, and neuroplastic domains. This study examined the associations among insight, cognitive performance, sleep architecture, and peripheral biomarkers in OCD, integrating …
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Mitochondrial Contributions to Schizophrenia Symptom Severity: A GWAS Approach in a South African Population
… genomic variation and mitonuclear crosstalk to clinical symptom severity in a South African First Episode Schizophrenia (FES) cohort (N=103). Utilizing genome-wide association data, the study employed General Linear Models to assess mitochondrial single nucleotide variants (SNVs), cumulative …
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Identification and Characterization of Modulators of Chemotherapeutic Response in Mouse Models of Cancer
… insights into topoisomerase biology and the clinical heterogeneity associated with topoisomerase poison-based therapies. In a related screen, I also found Nek4 levels to be hitherto unappreciated determinants of the cellular response to microtubule poisons. Importantly, I went on to …
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Modelling and investigating treatments of childhood inherited mitochondrial diseases in zebrafish.
… (MDDS) are a group of severe, individually rare, clinically heterogeneous disorders that primarily affect children. Affected tissues tend to be those with a high energy demand such as the central nervous system and skeletal muscle. MDDS stem from disruption to the replication and maintenance of …
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Hypoxic gene regulation and oncogenic pathways in neuroblastoma
Neuroblastoma patients show remarkable clinical heterogeneity, with courses ranging from spontaneous regression to fatal tumor progression despite intense multi-modal treatment. Previous studies have shown that hypoxia pushes neuroblastoma cells towards a more immature phenotype, which correlates …
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Comprehensive Analysis of the Molecular Underpinnings of Pediatric Glioma
… survival of these tumors is robust, extensive clinical heterogeneity exists, specifically as it pertains to the patient's long-term prognosis. Molecular studies over the past decade have identified that pLGG frequently harbor genetic alterations in the RAS/MAPK pathway, although a comprehensive …
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The Diagnostic Odyssey of Hypermobile Eds Patients: Diagnosis, Clinical Expectations, and Psychosocial Concerns
… underlying genetic etiology. Patients with clinical features of hEDS face a long diagnostic odyssey due to lack of genetic testing and wide clinical heterogeneity. Additionally, recent research has shown that genetic institutions limit evaluations for suspected hEDS, adding another barrier …
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Molecular diagnosis in inherited polycystic kidney disease
… Though common, there are numerous challenges in clinical and molecular diagnosis of ADPKD due to clinical heterogeneity and sequence specific challenges related to pseudogenes that share >97% homology to the main disease gene (PKD1). This thesis addresses the sequencing and variant interpretation …
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Brain functional connectivity and its aberrations in mouse models of autism
… that are either off limits or confounded by clinical heterogeneity. In this work, we first describe the intrinsic organization of the mouse brain at the macroscale as seen through resting-state fMRI (rsfMRI). The analysis of a large rsfMRI dataset revealed the presence of six distinct …
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CROSS-DISEASE ANALYSIS OF MOLECULAR AND CELLULAR MECHANISMS IN KIF5A-ASSOCIATED NEURODEGENERATIVE DISORDERS
… To date, the molecular bases underpinning such clinical heterogeneity have been only partially elucidated, while the wide range of KIF5A mutations prompts the need to compare the molecular mechanisms of different variants. Therefore, in this thesis five key KIF5A mutants (the novel R17Q, R280C, …
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INVESTIGATION OF GENETIC FACTORS DETERMINING ISCHEMIC STROKE OUTCOME
… disability in adults. Because of its clinical heterogeneity, stroke is considered as a multi-factorial and polygenic disorder. Most current genetic studies of ischemic stroke focus on genetic susceptibility rather than factors determining stroke outcome. The genetic components of …
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GENOMIC AND EPIGENETIC APPROACHES IN THE CLINICAL AND PROGNOSTIC STRATIFICATION OF CHRONIC LYMPHOCYTIC LEUKEMIA
… leukemia (CLL) is characterized by highly clinical heterogeneity; the identification of factors that could predict the clinical course of early-stage CLL represents a crucial objective in this malignancy. The aim of the study is to identify novel biological markers that may be clinically …
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Model-Informed Drug Development of Riluzole for Neuroprotection in Acute Spinal Cord Injury: Integrating Pharmacokinetics, Pharmacodynamics, and Clinical Outcomes for Precision Medicine
… Cord Injury Study (RISCIS), a Phase II/III clinical trial conducted by the North American Clinical Trials Network (NACTN). This research represents the pharmacokinetic (PK) sub-study of RISCIS and investigates the therapeutic potential of riluzole to improve neurological outcomes using an …
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Heterogeneity in hyperkinetic disorder
… is a heterogeneous condition and that this heterogeneity is seen across all levels of analysis from the genetic and environmental causes to the associated neuropsychological deficits, the clinical presentation and response to treatment. This work investigated whether the more restrictive and …
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Detection and monitoring of treatment resistance in metastatic cancer through non-invasive DNA methylation-based biomarkers
… ctDNA plasma concentrations, relevant to many clinical scenarios, as early-stage disease and disease monitoring during initial lines of metastatic treatment, represent a major challenge in ctDNA applications. Despite several approaches for ctDNA analysis have been developed in the last decade, …
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DISSECTING THE CLINICAL AND BIOLOGICAL RELEVANCE OF DIS3 GENE IN MULTIPLE MYELOMA
… the bone marrow. MM is characterized by a wide clinical spectrum ranging from the presumed asymptomatic pre-malignant condition called monoclonal gammopathy of undetermined significance (MGUS), to extra-medullary plasma cell leukemia (PCL). Notably, MM is characterized by a deep genomic …
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