Psy. D., Antioch University, 2014, Antioch New England: Clinical Psychology

In this dissertation, I discuss the medical and psychological needs of families with children with Congenital Adrenal Hyperplasia (CAH). Due to these needs, I have designed and described a program of social support and psychoeducation to be offered to parents and families. Specifically, I discuss the difficulty that parents have when finding out that their child has CAH, the emotional toll this takes on a parent, on their relationship, and on their family. Using a Family Systems Illness Model, I designed a program that takes into account family functioning, organization, structure, and communication when determining what would be most helpful for these families at different stages in their adaptation to this disease. I then lay out a clear plan of action for implementing this program in settings where parents would gather and connect such as children's hospitals that treat their children. This program could also be used outside of a hospital setting in many different supportive environments.

Committee: Susan Hawes PhD (Committee Chair); Gina Pasquale PsyD (Committee Member); Laura Edwards-Leeper PhD (Committee Member) Subjects: Clinical Psychology

Doctor of Philosophy, The Ohio State University, 2003, Medical Microbiology and Immunology

Human populations are endowed with a sophisticated genetic diversity of complement C4 and its flanking genes RP, CYP21 and TNX in the RCCX modules of the major histocompatibility complex (MHC) class III region. Since the sequence polymorphisms and modular variations of the RCCX, and the polygenic and gene size variations of C4A and C4B are a potential root cause in the susceptibility to autoimmune and MHC-associated diseases, these areas are a topic of debate. Novel or improved techniques to accurately study the complex genetic patterns of the RCCX have been developed. Chromosomes with one- , two- , three- and four C4 genes were characterized in four informative families. Mutations that created polymorphic BglII and TaqI sites in RP and C4, respectively, were characterized. PshAI RFLP was developed to detect TNXB-XA recombinants, which causes congenital adrenal hyperplasia (CAH). TaqI and the novel BsaI RFLP's revealed monomodular-L with CYP21A and bimodular structures with CYP21A-CYP21A at frequencies of 20.5% and 22.7% in 22 CAH patients, respectively. The transcript levels of C4A and C4B showed a direct correlation to the respective gene dosages in liver and kidney tissues. Primary cultures of human mesangial cells with equal numbers of C4A and C4B genes demonstrated a constitutively low expression of C4A, but not C4B. The relative level of C4B mRNA increased ~ 2- to 30-fold upon interferon-gamma induction. An analysis of 110 Caucasian SLE patients revealed increases of homozygous C4A deficiency (9.1% vs 0.7%, p=0.0008). Although homozygous C4A deficiency was inherently low in the southern Chinese population, partial C4A deficiency was increased in 291 SLE patients (15.5% vs 7.7%, p=0.007). Furthermore, the distribution of C4A gene dosages was lower in the Caucasian (p=0.0005) and Chinese (p=0.008) patient groups when compared to their respective normal controls. Therefore complete or partial deficiency of C4A is a common risk factor for SLE in two different ethn (open full item for complete abstract)

Committee: Chack Yung Yu (Advisor) Subjects: