CANDIDATE GENE STUDIES IN PATIENTS WITH AUTISM SPECTRUM DISORDER

Autism Spectrum Disorder is a grouping of disorders that range from the diagnosis of Asperger Syndrome to Autistic Disorder (formally known as autism). Attention Deficit Disorders and Pervasive Developmental Disorder-Not Otherwise Specified are also a part of this spectrum of disorders. Autism Spectrum Disorder affects one out of every 110 children and has a male to female ratio of 4:1. This has led to the need to identify genes that may be causative for this disorder. Several genome-wide scans have been conducted and have identified locations in the human genome that may contain causative genes for Autism Spectrum Disorder. One such area was found to be located at chromosome 7q and included the MET gene. Campbell et al. (2006) identified the rs1858830 C variant in the MET gene and a study found it to be associated with ASD. Screening of the rs1858830 C variant in the MET gene was conducted in a unique population comprised of individuals diagnosed with Autistic Disorder and controls. Results indicated that this variant was associated with Autistic Disorder. The high male to female ratio of individuals affected with Autism Spectrum Disorder raises the possibility that genes on the X chromosome may be involved in these disorders. Alterations in NLGN4X , which is involved in neuronal synapse formation and located at Xq22.2, have previously been identified that are associated with Autism Spectrum Disorder. We screened a cohort of individuals diagnosed with Autistic Disorder for any alterations in NLGN4X. We identified two alterations in NLGN4X within this cohort. Further studies were conducted to observe cell morphology after transfection with the altered NLGN4X proteins in PC12 cells, a rat pheochromocytoma cell line. Fluorescence microscopy determined that neuronal cells expressing the two altered forms of NLGN4X had altered cell morphology. Cellular localization studies also identified a difference between the location of the altered NLGN4X proteins within the cell and the location of wild type NLGN4X. To further identify causative genes for Autism Spectrum Disorder, the translocation breakpoint region at chromosome 2q21 of a patient with a chromosomal translocation t(2;16) and autistic like characteristics was partially mapped. The breakpoint at chromosome 2q was narrowed to a region of only 80kb in size and one candidate Autism Spectrum Disorder gene within this region was identified. The understanding and identification of Autism Spectrum Disorder causative genes is very important given the large number of individuals that are affected. The wide range of phenotypes associated with this disorder implies the involvement of many genes that lead to different phenotypes. The studies within this dissertation determined that Autistic Disorder is associated with an alteration in the MET gene, identified two alterations, one being de novo, in NLGN4X that are associated with Autistic Disorder, and provided cellular studies of the NLGN4X alterations in a neuronal cell line. Additionally, this research revealed candidate genes located at chromosome 2q21 that may be associated with Autism Spectrum Disorder

A Case Report of Acute Heart Failure Due to Infective Aortic Endocarditis Diagnosed by Point-of-care Ultrasound

Introduction: Infective endocarditis (IE) is a life-threatening condition with significant morbidity and mortality, and can require surgical repair.Case Report: A 36-year-old man presented to the emergency department for worsening dyspnea and chest pain. Point-of-care echocardiography demonstrated a mobile oscillating mass on the aortic valve with poor approximation of the valve leaflets, suggesting aortic valve insufficiency secondary to IE as the cause of acute heart failure. The patient underwent emergent aortic valve replacement within 24 hours.Discussion: While point-of-care echocardiography has been well documented in identifying tricuspid vegetations, aorticvalve involvement and subsequent heart failure is less well described. Earlier recognition of aortic valve vegetations and insufficiency can expedite surgical intervention, with decreased complication rates linked to earlier antimicrobial therapy.Conclusion: This case report highlights the ability of point-of-care ultrasound to identify aortic vegetations, allowing for the earlier diagnosis and therapy

Spirituality, Help-seeking Attitude, and Black Women: A Qualitative Study

A semi-structured interview was used to survey help-seeking attitude via questions about spirituality, therapy, and the connections between the two. Interpretative Phenomenological Analysis (IPA) was used to provide a framework for understanding how these factors potentially effect professional help-seeking attitudes in Black women and the role spirituality plays in developing help-seeking attitudes and the potential effect on professional psychological help. Ten interviews were conducted with Black women who lived or went to church in Akron, Ohio. Data from nine study participants were used and seven super-ordinate themes were found. The themes identified were as follows: 1) awareness and access; 2) God is enough; 3) informal therapy; 4) relationships; 5) spirituality; 6); therapy as a resource; and 7) upbringing. The findings suggested spirituality has a major impact on help-seeking attitude, the development of help seeking attitude, and potentially help-seeking behavior. Additionally, the significance of spirituality was evident in how participants discussed other themes, suggesting spirituality was intricately woven throughout the lived experience of the women. These findings are significant for clinicians who work with Black women who endorse spirituality as important in their lives and who uses spirituality as a psychological resource. The results provided a reference point for discussion and exploration about how spiritual factor are used in stressful times; and, whether or not the client has supplemented therapeutic approaches with spirituality. This is important as it could allow therapist to understand the efficacy of the strategies used with Black women or if those strategies, unbeknownst to the therapist, were being supplemented with elements of spirituality. Several questions surfaced based on the findings that may provide a foundation for future studies. Recommendations were made for moving this line of inquiry forward

Special Problems of the Hard of Hearing

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Multiculturalism is unpopular with the majority – even though it makes for happier societies

How do people feel about multicultural policies? Ethnic majorities tend to resent them, and feel less safe in societies with a number of affirmative and rights-based policies, write Pamela Irving Jackson and Peter Doerschler. As a result, governments have come under pressure to ensure policies that tackle inequality benefit everyone. Yet both ethnic majorities and minorities declare themselves happier with their lives and governments when they live in states with multicultural policies

Radical Right-Wing Parties in Western Europe and their Populist Appeal: An Empirical Explanation

In a majority of Western European countries, the vote share cast for radical right-wing populist parties in national elections was over 10% by 2015, reaching 46% in Austria’s 2016 presidential election. Policy agendas of national governments have also moved to the right, demonstrating greater restrictiveness on immigration and skepticism toward the EU. With data from the Chapel Hill Expert Survey, European Social Survey, Multiculturalism Policy Index, and Parliaments and Governments Database, we extend current models of electoral support for far-right parties by assessing whether the ethnic majority’s sense of discrimination and safety help explain the allure of the right-wing message. Does right-wing populist voting by majority group members reflect their sense of being personally disadvantaged in a multicultural state beyond their more general opposition to immigration as bad for the country? Building on the multivariate model of voter preference developed by Inglehart and Norris (2016), we look specifically at majority group members in thirteen Western European states and add two measures of personal grievance: sense of being in a group that is discriminated against and fear of walking alone at night. Our results suggest that along with their stance against immigration and multiculturalism, their socioeconomic appeals and ideological signals, radical right-wing populist parties draw majority group members’ votes by stoking their sense of personal grievance as members of a group that is discriminated against

An Introduction to the Design of the Low-Income Housing Tax Credit

This report discusses the Low-Income Housing Tax Credit (LIHTC), which is a federal provision that reduces the income tax liability of taxpayers claiming the credit. These taxpayers are typically investors in real estate development projects that have traded cash for the tax credits to support the production of affordable housing. The credit is intended to lower the financing costs of housing developments so that the rental prices of units can be lower than market rates, and thus, presumably, affordable

Proposed Federal Income Tax Exclusion for Civilians Serving in Combat Zones

This report provides information about the tax treatment of both the earned income of members of the Armed Forces serving in combat zones and the earned income of U.S. citizens working overseas. A brief discussion of the possible expansion of income tax exclusion to government civilian employees in a combat zone and an analysis of the relevant policy issues is also included

The Federal Excise Tax on Gasoline and the Highway Trust Fund: A Short History

Excise taxes have long been a part of our country's revenue history. The federal government first imposed its excise tax on gasoline at a one-cent per gallon rate in 1932 to correct a federal budgetary imbalance. The burden for much of the tax ultimately falls on the consumer. The Highway Revenue Act of 1956 established the federal Highway Trust Fund for the direct purpose of funding the construction of an interstate highway system and aiding in the finance of primary, secondary, and urban routes. This act increased the tax on gasoline from two to three cents per gallon. President Bush recently signed a piece of legislation that calls for the extension of the Highway Trust Fund excise tax and an eventual expiration after September 30, 2011

Income Tax Relief in Times of Disaster

In response to the devastation caused by Hurricane Katrina, disaster areas have been designated in 64 parishes in Louisiana, 52 counties in Mississippi, six counties in Alabama, and three counties in Florida. Special provisions are available for taxpayers to help recover from the impact of a disaster