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 29 for “"childhood-onset"”.
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Comorbidity across childhood-onset neuropsychiatric disorders
Background: Attention-Deficit/Hyperactivity Disorder (ADHD), and Autism Spectrum Disorders (ASDs) are clinically found to be comorbid with each other and with other psychiatric conditions to a greater extent than what is previously assumed. It is, however, difficult to capture this complexity using …
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An exploration of obesity: childhood onset obesity and adult onset obesity
… that obese individuals who suffer from childhood onset obesity as opposed to adult onset obesity are more likely to perceive one's body negatively. Participants were recruited from a medical office located in a middle-upper class suburban town of South Jersey. Body shape attitudes were …
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Epidemiological Studies Of Childhood Onset Type 1 Diabetes In Devon And Cornwall
… demonstrated that the overall incidence rate of childhood onset type 1 diabetes was 14.9 cases/100 000/year in this area during the 22-year study period (1975-1996). The case ascertainment was 94.4% for the whole register. A significant increase (2.49% per year) of overall incidence has been …
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Characteristics of childhood-onset Systemic Lupus Erythematosus in Cape Town, South Africa
Includes bibliographical references.
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Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions
<p>Identifying genetic diagnoses for neurological conditions with a considerable hereditary component, such as autism spectrum disorder (ASD), intellectual disability, and epilepsy, is critical to providing proper medical management for these patients and their families. However, many patients with …
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Identification of novel genetic determinants in the high prevalence early-onset inflammatory bowel disease population in Scotland
… Europe. Up to 25% of IBD is diagnosed during childhood or adolescence. The aims for this thesis were to study the epidemiology, natural history and novel genetic determinants of childhood onset IBD in Scotland. Methods: The existing repository of childhood onset and adult onset IBD patients, …
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A Comprehensive Assesment of Eosinophilic Oesophagitis
… staining has recently shown some potential. The onset of disease has been established in both children and adults, but there is limited understanding regarding the natural history of this condition. Furthermore, an incomplete comprehension of EoE pathogenesis has led to uncertainty regarding the …
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Klinik und Molekulargenetik der hereditären motorischen und sensiblen Neuropathien im Kindesalter
… of responsible mutations of patients with early childhood onset HSMN and draws a better understanding of the structure and function of the proteins, which are liable for the peripheral nervous system. It can be confirmed that new autosomal dominant mutations play a vital role in the differential …
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Development of conduct problems in girls: Testing theoretical models and examining the role of puberty
… two developmental trajectories. The adolescent-onset pathway is associated with deviant peers and few characterological problems, where as the childhood-onset pathway is associated with emotion regulation deficits, negative parenting, callous and unemotional traits, and neurological deficits. …
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Developmental Pathways To Conduct Problems
… theories proposing different etiologies for childhood-onset and adolescent-onset conduct problems. It investigates a variety of causal factors proven to be important for the development of antisocial behaviors, specifically neuropsychological/cognitive deficits, temperamental vulnerabilities, …
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Bone health and cardiovascular risk in hypopituitary patients on complete hormone replacement, including GH
… GH therapy and no studies on BMD in adults with childhood onset (CO) craniopharyngioma (CP) on GH therapy. We have shown a doubled fracture incidence in CO GHD women and decreased incidence of fractures in adult onset (AO) GHD men. We have also shown decreased BMD in adult women with CO CP on GH …
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Evaluation of Metabolic Risk in Relation to Visceral Adiposity and Physical Activity in Patients with Long-Standing Type 1 Diabetes // Оценка на метаболитния риск във връзка с висцералната мастна маса и физическата активност при пациенти със захарен диабет тип 1 с голяма давност
… type 1 diabetes mellitus (T1DM) with childhood onset. A prospective case–control study was conducted, including 124 patients with T1DM (disease duration >15 years) and 59 healthy controls matched for age, sex, and BMI. Advanced approaches were applied to determine VAT (DXA, CT, MRI) …
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A novel compound heterozygous NEB mutationin Korean patients with intellectual disability, epilepsy,and acongenital myopathy
… generalized muscle weakness of early childhood onset. I performed several conventional genetic tests to detect chromosomal aberrations, gene copy number variations, and candidate gene and mitochondrial gene mutations. After finding no abnormality ,I conducted whole exome sequencing …
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AD/HD and autism spectrum disorders in adults
… and autism spectrum disorders (ASDs) are early-onset, but often life-time impairing, neurodevelopmental disorders. They are highly overlapping and seem to carry considerable risks of negative outcomes, psychiatrically and psychosocially. Childhood hyperactivity is a known risk factor for …
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Delineation of the genotype and phenotype of children presenting with dystrophies, excluding dystrophinophathies, in the Western Cape of South Africa. (2019-2020)
… into two groups, congenial /infantile and childhood, based on age of onset. Muscle biopsy characteristics, biochemical findings, and where available, genetic analysis were captured. Based on the combined findings children were categorised into connective tissue variant groups i.e., Collagen …
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Genetic Background and Genotype-Phenotype Correlations in Palmoplantar Epidermal Differentiation Disorders
… outer edges of the soles, and first toes. This childhood-onset DSP-pEDD, with a median onset age of 14 years old, was demonstrated to serve as a red flag for cardiomyopathy, which was typically diagnosed three decades later with a median age at cardiomyopathy diagnosis of 45 years old. Nearly …
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Residual Symptoms in Pediatric Depression after Acute Pharmacological Treatment
… failure, school drop out, and suicidality. Childhood onset of MDD has been linked to an increased likelihood of relapse of MDD in child and adolescent research. Adult studies have found that residual symptoms increase the risk of relapse, and shorten the time to onset of relapse. This study …
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Creating CRISPR-Cas9 genome edited iPSC lines to model a patient-specific mutation in mitochondrial disease
… and its c.1347 G>A mutation causes severe childhood-onset progressive spastic paresis. Here, CRISPR-Cas9 ribonucleoprotein (RNP) complex and associated donor template were used to induce homology directed repair (HDR) the genome of iPSC and knock-in the patient mutation. Guide RNAs were …
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Deciphering the genetic and epigenetic basis of human imprinting and chromatin disorders
… detect disease methylation episignatures (e.g., childhood-onset dystonia, Kabuki syndrome, Sotos syndrome, and Luscan-Lumish syndrome). In particular, methylation episignature analysis enabled the identification of epigenotype-phenotype associations and provided insights into pathogenetic …
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MODELLING RIBOFLAVIN TRANSPORTER DEFICIENCY (RTD) USING IPSC-DERIVED MODELS TO TEST GENE THERAPY EFFICACY
… transporter deficiency syndrome (RTD) is a rare childhood-onset neurodegenerative disorder caused by mutations in SLC52A2 and SLC52A3 genes, encoding the riboflavin (RF) transporters RFVT2 and RFVT3. In the present study we focused on RTD Type 2, which is due to variants in SLC52A2 gene. There is …
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