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.
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Showing 1 to 20 of 93 for “"Genetic disorder"”.
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A study of oral health care for the children with genetic disorder and chromosomal abnormalities
… result is as below. 1. Among the children with genetic disorder, 77.2% of them were found that the average frequency of tooth-brushing and the snack intake per day were two times and 2.14 times respectively. 92.4% of the respondents brushed their teeth less than 3 minutes and 77.1% of them did …
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Biochemical Characterization of a Partial Deficiency for Ump Synthase in Holstein Cattle (Enzyme, Genetic Disorder, Metabolic Defect, Hereditary Orotic Aciduria)
A partial deficiency for uridine-5'-monophosphate (UMP) synthase in Holstein cattle was characterized biochemically. Activity is half normal in animals that are heterozygous for a potentially lethal gene. Hemolysates were used as the source of enzyme for these studies after verifying that the …
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Executive and behavioural functioning in girls with Turner's syndrome
Turner's syndrome (TS) is a genetic disorder that arises from the complete or partial absence of the second sex chromosome. The T S behavioural phenotype has been characterised by a specific neuropsychological profile of normal verbal skills, impaired visuo-spatial and/or visuo-perceptual abilities …
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SYNTHESIS, CHARACTERIZATION, IN VITRO EVALUTION, AND PRECLINICAL PROFILING OF β-CYCLODEXTRIN POLYROTAXANE FAMILIES FOR USE AS POTENTIAL NIEMANN-PICK TYPE C THERAPEUTICS
… Type C (NPC) is a rare, autosomal recessive genetic disorder featuring a loss of proteins responsible for unesterified cholesterol (UC) trafficking through the late endosomes/lysosomes (LE/LY) of every cell of the body. Disruption of this pathway leads to abnormal accumulation and storage of …
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The experiences of couples undergoing Preimplantation Genetic Diagnosis (PGD) at the Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital (SQUH) in Oman
Preimplantation genetic diagnosis (PGD) is an alternative reproductive technology integrated with in-vitro fertilisation (IVF). It is a well-established technique offering reproductive options for families at a high risk of transmitting a genetic disorder, allowing them to avoid a termination of …
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Transition of Health Care For Adolescent Patients With Neurofibromatosis Type I: Parent Perspectives
… for adolescents and young adults living with a genetic disorder. During this time, an adolescent faces the demands of having to gain a more complete understanding of his or her disorder and its clinical features, learning how to effectively manage his or her medical care independently, learning …
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A study of community genetics at Umlazi Township of KwaZulu-Natal
… of the study was to investigate the incidence of genetic disorder at Umlazi Township, and the ability of the present structure of health care services to provide necessary genetic service to this community. The study revealed that the health care practitioners who come in contact with clients or …
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Lead compound discovery for myotonic dystrophy
Myotonic dystrophy is a debilitating genetic disorder which currently does not have a therapeutic treatment. It is understood that CTG expansions lead to formation of stable poly(CUG) mRNA which mislocalize splicing factors such as MBNL1 and lead to missplicing in the cell. One therapeutic strategy …
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An investigation of the language and communication characteristics observed in children with Smith-Magenis syndrome
… Syndrome (SMS), a recently identified genetic disorder arising from the deletion or mutation of part of the 17th chromosome. This qualitative study examines the speech and language needs exhibited by children with SMS through parent surveys and interviews, as well as current speech …
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Primary Ciliary Dyskinesia: An Epidemiological Exploration. Furthering our understanding of the burden of disease in PCD
… (PCD) is an underrecognized multisystem genetic disorder that is characterized by dysfunctional motile cilia and abnormal mucociliary clearance. In recent years, there have been significant advancements in the understanding of PCD including, but are not limited to, disease frequency …
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A perturbation model for normal and sickle cell blood microcirculation
Sickle cell disease is a genetic disorder that alters red blood cells such that their hemoglobin cannot effectively bind and release oxygen. This causes issues that affect how the cell operates in the smallest vessels of the body. In the past, computational models have been used to study the …
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Developing Fluorescent Tools to Dissect the Role of Tuberin at Mitotic Onset
Tuberous Sclerosis is a genetic disorder that causes benign tumours to form in the kidneys, brain, skin, and other organs. This disease is caused by inactivating mutations in either the TSC1 or TSC2 gene encoding for Hamartin and Tuberin, respectively. Mechanistically, Hamartin and Tuberin form a …
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Diagnosi molecolare della Distrofia Muscolare di Duchenne e della Neurofibromatosi tipo 1 con la tecnologia di sequenziamento Next Generation
… the neurofibromin gene (NF1), is a multisystem genetic disorder that commonly is associated with cutaneous, neurologic, and orthopedic manifestations. Full characterisation of the mutational spectrum is necessary for genetic counselling, prenatal diagnosis and selecting the patients eligible for …
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Base editing of Galactose-1-Phosphate Uridylyl Transferase as a novel gene therapy approach to treat Q188R mutation in a cellular model of Classic Galactosemia
Classic Galactosemia (CG) is a rare genetic disorder represented by the inability to convert galactose to glucose. A mutation at the galactose-1-phosphate uridylyltransferase (GALT) enzyme coding gene halts galactose metabolism which leads to the accumulation of galactose-1-phosphate and …
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The effect of taurine on dystrophic muscle tissue function
… muscular dystrophy (DMD) is a lethal X-linked genetic disorder which results in chronic degeneration of skeletal muscle, significantly impacting on the duration and quality of life. Despite the genetic defect and the missing protein dystrophin having been identified and characterised over 20 …
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Executive functioning in Cornelia de Lange Syndrome
Cornelia de Lange Syndrome (CdLS) is a genetic disorder caused by mutations to Chromosomes 5, 10 or X. In addition to mild to profound intellectual disability and the distinctive physical phenotype, emerging evidence has suggested a number of age-related changes in behaviour occurring during …
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Gaucer Disease in the Ashkenazi-Jewish Community of South Africa
Gaucher disease is a biochemical genetic disorder of the lipid storage group. It is characterised by an accumulation of a glycosphingolipid, glycosyl ceramide in the reticulo-endothelial system. The condition presents clinically with hepatosplenomegaly, haematologic and orthopaedic problems. …
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Friction Ridge Dysplasia and Its Preponderance in the Afghanistan Population
<p>Friction Ridge Dysplasia is a rare genetic disorder in which the friction skin ridge units do not fuse together to form continuously flowing friction ridges. The skin affected by Friction Ridge Dysplasia is generally localized to one area and gives a similar appearance of the pebbled state of …
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Examining Barriers to Care, Adherence, Quality of Life and Health Outcomes in Pediatric Sickle Cell Disease
Sickle cell disease (SCD) is an inherited genetic disorder that affects approximately 1 outof every 500 African Americans. Managing SCD requires adherence to very specific medicalregimens to ensure positive health outcomes. If we are to improve treatment adherence inpediatric SCD, we must first …
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Characterization of the two major merlin isoforms and merlin regulation of YAP
… tumors of the nervous system. In addition to the genetic disorder, loss of merlin expression has been found in sporadically occurring schwannomas and meningiomas, as well as in mesothelioma. Merlin has two major isoforms that differ in only one exon at the C-terminal. Previous work hypothesized …
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