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 44 for “"Clinical Phenotype"”.
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Determinants of clinical phenotype in myeloproliferative neoplasms
… of the inflammatory microenvironment to phenotype and progression risk. Results: A total of 2035 patients were included in the analysis. 33 genes had driver mutations in at least 5 patients, with mutations in JAK2, CALR, or MPL being the sole abnormality in 45% of the patients. The …
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Study of patients with selective immunoglobulin A deficiency: clinical phenotype and immunological evaluation
Η εκλεκτική ανεπάρκεια IgA (Selective IgA deficiency, SIgAD) αποτελεί την πιο συχνή πρωτοπαθή ανοσοανεπάρκεια και χαρακτηρίζεται από σημαντική κλινική ετερογένεια και μεταβλητή ανοσολογική εξέλιξη. Παρά τη σχετικά υψηλή της συχνότητα, τα συνδυασμένα κλινικά και ανοσογενετικά δεδομένα —ιδίως σε …
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EXPANSION OF CLINICAL PHENOTYPE AND USE OF KETOGENIC DIET IN RARE GENETIC CONDITIONS: GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME AND SCN8A-RELATED DISORDERS
… The aim was to expand the understanding of the clinical phenotype and disease progression, as well as to evaluate the efficacy of the ketogenic diet (KD) as a treatment. Regarding GLUT1-DS, data were collected at the Italian reference centre “Vittore Buzzi” Children’s Hospital, the main site of …
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Severe Neurotoxicity Associated with supra-therapeutic Efavirenz concentrations: a retrospective cohort study
… Severe neurotoxicity has been reported but the clinical phenotype and risk factors are poorly defined. Methods We retrospectively identified adults with supratherapeutic efavirenz concentrations (> 4 mg/L) obtained as part of routine clinical care at five hospitals in Cape Town, South Africa. …
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The effect of single nucleotide polymorphisms and mutations on congenital thrombotic thrombocytopenic purpura phenotype
… leading to end-organ damage. TTP is a clinically heterogeneous disorder caused by autoantibody inhibition or clearance or by a deficiency in activity or secretion of the von Willebrand factor cleaving protease (ADAMTS13). Over 100 mutations have been identified in ADAMTS13 yet, in some …
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Genetic and Clinical Determinants of Racial/Ethnic Differences In Multiple Myeloma Susceptibility and Outcomes Focusing On Hispanics
… for unknown reasons. Differences in clinical phenotype are also present for MM patients by ancestry, including varying rates of common initiation mutations such as IgH translocations and TP53 mutation between patients of European and African descent. Studies have begun to interrogate …
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Sickle cell anaemia in Cameroon : co-inheritance of α-thalassemia, HBB gene haplotypes, clinical & haematological characterisations
… patients can manifest varying degrees of clinical severity due to various genetic modulators that affect the phenotype of this disease. The co-inheritance of alpha-thalassemia (α-thalassemia) has been associated with a milder phenotype in SCA patients (e.g. lower stoke rate), but could …
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Molecular and genetic characterization, clinical evaluation and pilot study to assess the feasibility of a carrier screening for Crisponi syndrome in Sardinia
… sweating syndrome type 1 (CISS1) share clinical characteristics, such as dysmorphic features, muscle contractions, scoliosis and cold-induced sweating, with CS patients showing a severe clinical course in infancy involving hyperthermia, associated with death in most cases in the first …
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Congenital Disorder of Glycosylation (CDG) - Ih
… defect in a new type of CDG with an unusual clinical phenotype and a difficult way of detection is described. The disorder was localised in the decreased activity of the human ortholog of the yeast ALG2 mannosyltransferase which catalyses the transfer of mannose residues onto …
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Developing Novel Therapies Targeting the Tumor Microenvironment of Aggressive Breast Cancer
… in driving these aggressive breast cancers' clinical phenotype and aggressiveness. Therefore, we explored novel actionable targets and complementary therapies targeting the TME to improve the outcomes of patients with these cancers.</p> <p>In this thesis, we identified AXL as a potential …
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Evaluation of the visual pathway with ERG, mfERG and mfVEP in inherited eye disorders
This thesis will describe the clinical phenotypes, with emphasis on electrophysiology, in patients with different hereditary eye diseases and to further evaluate and modify the mfVEP technique for clinical use. Bothnia Dystrophy is a tapetoretinal disorder with a mutation in the RLBP1 gene. Early …
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Bronchiectasis in African children: disease burden, aetiology and clinical spectrum at a paediatric tertiary hospital in Cape Town, South Africa
… to describe the disease burden, aetiology, and clinical spectrum of bronchiectasis in children attending a tertiary hospital in Cape Town, South Africa. Methods Data was collected by chart review of all patients 3 months to 15 years attending the respiratory clinic at red cross war memorial …
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Suicidal Ideation and Treatment-Resistant Depression: Clinical Endophenotype Characterization and Exploration of Novel Brain Stimulation Interventions
… of SI are needed. In this thesis I explore the clinical phenotype of the overlap of TRD and SI through a retrospective analysis of the largest clinical trial in depression, the STAR*D trial. Results from this analysis demonstrate the association between SI and TRD. This analysis also confirms …
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Availability of Dental Anomaly Phenotype In Individuals With Familial Adenomatous Polyposis
… Center (UTMDACC) to assess self-reported dental phenotype. Demographic data was obtained from chart review and included current age or age at death, age at diagnosis of FAP, sex, surgical procedure for polyposis, available dental phenotype information, date of last contact at UTMDACC, and …
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Functional genomics studies of human brain development and implications for autism spectrum disorder
… of diverse genes can all be linked to a single clinical phenotype. This thesis describes a coordinated set of bioinformatics experiments that first (i) assessed for gene expression and co-expression properties among ASD candidates and other non-coding RNAs during normal human brain development …
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Imaging Correlates of Heterogeneity in the Syndromes Associated with Frontotemporal Lobar Degeneration
… progression, with variable correlation between clinical phenotype and underlying proteinopathy. Single pathologies are associated with diverse clinical presentations, while the same clinical presentation can be caused by multiple pathological entities. Heterogeneity makes predicting underlying …
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Nterleukin-4 responsive dendritic, macrophage/neutrophil cells are dispensable for host resistance against Leishmania Mexicana infection in mice
… skin lesion progression was measured, and the clinical phenotype was evaluated by investigating both humoral and cellular immune responses. Mouse strains had similar footpad lesion progression, parasite loads, humoral responses, expansion of CD4+ and CD8+ T cells, their activation, memory …
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The Contribution of Structural Variants to 2,095 Molecular Phenotypes in 12,354 European Ancestry Individuals
… contribution of SVs on a comprehensive range of phenotypes available in the cohort. These traits include a range of blood cell traits and phenotypes relating to inflammation and immunity including 1,348 metabolites, 92 plasma proteins and 125 full blood count traits. I modelled linear …
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NOVEL THERAPEUTIC APPROACHES EMERGING FROM HCN CHANNELS STRUCTURAL AND FUNCTIONAL STUDIES
… mutation location, channel dysfunction, and clinical phenotype. Interestingly, we identify a novel correlation between loss-of-function mutations in the pore-helix / selectivity filter domain of HCN1 that are associated with ND and no history of seizures. We further explore the use of pore …
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HAPLOINSUFFICIENCY OF RAI1 AND ITS EFFECT ON BDNF EXPRESSION
… with deletion of chromosome17p11.2 [1]. The clinical phenotype has been well described and includes minor craniofacial anomalies, self-injurious behaviors as well as sleep disturbances, speech delays, and obesity [1,2,3]. The incidence of SMS is estimated to be ~ 1:15,000 - 25,000 births …
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