published_or_final_version / Biochemistry / Master / Master of Philosophy

Autism is characterized by qualitative impairments in communication and reciprocal social interaction. About 3 in 10,000 in the general population suffer from this neurodevelopmental disorder. The majority of patients also manifest mental retardation and about 20-45% epilepsy. Multiple exostoses is the commonest form of all skeletal dysplasias, affecting 1 in 50,000 live births. The condition, characterized by cartilaginous protuberances at the ends of the diaphyses, affects the extremities causing skeletal deformities and short stature. Autism and multiple exostoses are considered to be inherited disorders, but the underlying biochemical defects of the disorders are unknown. Both of these conditions allow for survival but considerably diminish the quality of life. An X;8 translocation was identified in a female patient, ML, with autism and multiple exostoses. Her phenotypic manifestations are likely due to the chromosomal abnormality. A positional candidate cloning strategy was used to investigate the genes involved in the translocation. The translocation breakpoint was first isolated in Yeast Artificial Chromosomes (YACs), then in cosmid and plasmid clones. The translocation was reciprocal within a 5'-GGCA-3' sequence found on both X and 8 chromosomes without gain or loss of a single nucleotide. The translocation breakpoint on the X chromosome occurred in the first intron of the gastrin releasing peptide receptor (GRPR) gene and on chromosome 8 approximately 30 kb distal to the 3' end of the Syndecan-2 gene (SDC2), also known as human heparan sulfate proteoglycan or fibroglycan. Although the GRPR gene was shown to escape X-inactivation and the coding region of the SDC2 gene was not disrupted, a dosage effect of the GRPR gene and a position effect of the SDC2 gene may, however, have contributed to the phenotype observed in this patient. The orientation of these genes with respect to the translocation was incompatible with the formation of a fusion gene. The GRPR and SDC2 genes may provide insight into the biochemical nature of autism and multiple exostoses. Investigation of mutations in these two genes in unrelated patients with either autism or multiple exostoses as well as linkage and association studies are needed to validate them as candidate genes.

Thesis (M. Phil.)--University of Hong Kong, 2005. / Title proper from title frame. Also available in printed format.

Thesis (M.Phil.)--University of Hong Kong, 2003. / Includes bibliographical references (leaves 125-141) Also available in print.

Thesis (M.A.)--Ball State University, 2009. / Title from PDF t.p. (viewed on Dec. 14, 2009). Includes bibliographical references (p. 134-141).

Diffuse idiopathic skeletal hyperostosis (DISH) is a rheumatology term for a particular type of vertebral arthritis involving the calcification of the right aspect of the anterolateral ligament (ALL) and the presence of ligament ossification at particular peripheral joints. DISH is most common among middle to late age males and is thought to be present in 10% of males over the age of 65. Although the etiology of the disease is unknown, many have associated it with diabetes and a high status lifestyle. In this thesis, DISH is examined in a late nineteenth, early twentieth century almshouse cemetery known as the Milwaukee County Institution Grounds (MCIG) cemetery. Due to the health and diet of the immigrant peoples living in Milwaukee during the MCIG cemetery’s usage, 1850 to 1974, it is suspected that diabetes would not have been a common disorder, thus leading to little to no DISH presence in the cemetery population. However, DISH is seen in the MCIG population which suggests that the etiology of DISH is not a result of diet or diabetes but other factors altogether. / Department of Anthropology

published_or_final_version / Biochemistry / Master / Master of Philosophy

published_or_final_version / Orthopaedic Surgery / Master / Master of Philosophy

published_or_final_version / abstract / Orthopaedics and Traumatology / Master / Master of Philosophy

Exostoses are surface periosteophyte inside the external auditory canal of the human ear. The main objective of the diploma thesis is to determine the potencial impact of the narrowing of external auditory canal by exostoses on the mechanical sound transmission into the internal ear. The task was solved by FEM modelling in the ANSYS system. The simple finite element 2D model of the normal human ear was used and it has been taken from the diploma thesis B Ouali: Development of 2D finite element model of human ear (BUT Brno, 2009). At the model, including the external ear canal, elastic eardrum, otitis cavity with otitis ossicles and the cavity of the internal ear with internal ear partition, the alterations simulating different size of narrowing a and different positionig of exostoses were done. The influence of the exostoses on the sound transfer characteristics for air sound transmission and for bone sound transmission was discused. The results were analysed and compared with audiology.