<p>Clubfoot is the most common congenital structural deformity that leads to physical impairments in children in many poor developing countries. Inadequately treated or neglected clubfoot has been found to be a common cause of ohysical disability globally among children and young growing adults. Many children are referred to the clinics for treatment but some parents do not comply with the treatment regimen whcih requires attending for consecutive treatment sessions. The purpose of this study was to investigate barriers to treatment attendance parents/caregivers of children with clubfoot encounter in complying with clubfoot treatment during the plaster csting phase in Uganda.</p>

Pectus excavatum (PE) is a congenital deformity that is characterized by a sunken chest. Children with PE often experience embarrassment and shame over their physical appearance and can undergo the Nuss procedure, a minimally invasive surgery, to correct their deformities. Because a child's characteristics can affect the well-being and experiences of hisiher parents, one might expect that children with PE would impact the lives and behaviors of their parents. The present study employed phenomenology to investigate the experiences, perceptions, and recommendations of three fathers and six mothers whose children have undergone the Nuss procedure. Interviewers were conducted, transcribed verbatim, and thematically analyzed. Results indicate parents were most concerned about their child's well-being when hisher pectus became severe and symptomatic, and when helshe recovered fiom surgery. Moreover, many of the children's pediatricians were unaware of the Nuss procedure; as such, parents suggested that medical professionals are informed about this corrective procedure.

A dissertation submitted in partial compliance with the requirements for a Master's Degree in Technology: Chiropractic, Durban Institute of Technology, 2006. / This research study was designed in the form of a quantitative, non-experimental, empirical clinical survey. Objectives: 1) To determine the period prevalence (1 January 1997 – 31 December 2004) of congenital cervical spine anomalies. 2) To determine if there is any association between the presenting clinical features and the congenital cervical spine anomalies in general. 3) To determine if there is any association between the presenting clinical features and individual congenital cervical spine anomalies. 4) To compare subjects presenting clinical features with reported clinical features from literature. / M

Complex diseases, unlike Mendialian diseases, are often characterized by genetic heterogeneity and multifactorial inheritance, involving defects in genes from the same or multiple alternative pathways. Many congenital diseases and psychiatric disorders are complex diseases, and incur heavy health care burden on the society. With the advancement in high-throughput genotyping technologies and the availability of the human single nucleotide polymorphism (SNP) catalogue, genome-wide association study (GWAS) has been widely used to investigate the genetic component of complex diseases. Copy number variations (CNV) can also be identified using the data from the same SNP array. Aiming to identify more disease susceptibility loci for complex diseases, separate GWAS using a case-control design were conducted on anorectal malformations (ARMs) and schizophrenia. ARMs are rare congenital diseases with heterogeneous phenotypes which could probably be explained by the genetic heterogeneity among patients, while schizophrenia is a common psychiatric disorder that is well known for its multigenic inheritance. The GWAS studies on ARM and schizophrenia included 4,369 (patients: N=363; controls: N=4,006) and 1,231 Han Chinese (patients: N=381; controls: N=850) respectively. The two studies were mainly focused on investigating the contribution of rare CNVs to the diseases, involving analyses on global CNV burden, rare CNV association, protein-protein interaction (PPI) network, pathway and chromosomal aberrations. The associations of SNPs with ARMs were also examined. Apart from elucidating the genetic components in these two diseases, a systematic analysis on four CNV detection programs (CNV partition, PennCNV, QuantiSNP and iPattern) was also undertaken. In the study of schizophrenia, a new approach in CNV filtering which was based on latent class analysis was adopted to gather information from multiple CNV prediction programs. The study of ARMs revealed 79 genes which were disrupted by CNVs in patients only. In particular, a de novo duplication of DKK4 (an antagonist of WNT signaling) was identified, and addition of Dkk4 protein was demonstrated to cause ARMs in mice. Another 10 genes uniquely disrupted in ARMs patients are also related to WNT signaling. Interestingly, this pathway was also significantly inferred by CNV in patients with schizophrenia. A different set of genes related to WNT signaling was disrupted in ARMs patients and patients with schizophrenia. WNT signaling is crucial for the development of multiple parts in the embryo. The contribution of different WNT signaling pathways at different development stages may vary. Apart from the WNT signaling pathway, other genes with biological relevance were also implicated in the two studies through gene-network and pathway analyses. The results from these two GWAS studies support our existing understanding of complex diseases that defects in various interacting genes could contribute to the same disease. In summary, the CNV results from the two studies have demonstrated the genetic heterogeneity nature of these two complex diseases. The findings also uncovered a set of putative disease candidate genes, which can be used as reference materials for future genetic research for ARMs and schizophrenia. / published_or_final_version / Psychiatry / Doctoral / Doctor of Philosophy

<p>Clubfoot is the most common congenital structural deformity that leads to physical impairments in children in many poor developing countries. Inadequately treated or neglected clubfoot has been found to be a common cause of ohysical disability globally among children and young growing adults. Many children are referred to the clinics for treatment but some parents do not comply with the treatment regimen whcih requires attending for consecutive treatment sessions. The purpose of this study was to investigate barriers to treatment attendance parents/caregivers of children with clubfoot encounter in complying with clubfoot treatment during the plaster csting phase in Uganda.</p>

Thesis (Ph. D.)--University of Chicago, Department of History, June 2000. / Includes bibliographical references. Also available on the Internet.

No description available.

Thesis (M.Tech.: - Chiropractic)-Dept. of Chiropractic, Durban Institute of Technology, 2006 xiii, 75 leaves, Annexures 1-2 / This research study was designed in the form of a quantitative, non-experimental, empirical clinical survey. Objectives: 1) To determine the period prevalence (1 January 1997 – 31 December 2004) of congenital cervical spine anomalies. 2) To determine if there is any association between the presenting clinical features and the congenital cervical spine anomalies in general. 3) To determine if there is any association between the presenting clinical features and individual congenital cervical spine anomalies. 4) To compare subjects presenting clinical features with reported clinical features from literature.

Call number: LD2668 .T4 1957 E95 / Master of Science

Thesis (DR. P.H.)--University OF MICHIGAN.