Studio del possibile ruolo del complesso polycomb nel determinare la schisi del labbro e del palato

La labioschisi con o senza palatoschisi non-sindromica (NSCL/P) è tra le più frequenti alterazioni dello sviluppo embrionale, causata dall’interazione di fattori genetici e ambientali, moti dei quali ancora ignoti. L'obiettivo del mio progetto di Dottorato consiste nell’identificazione di fattori di rischio genetico in un processo a due stadi che prevede la selezione di geni candidati e la verifica del loro coinvolgimento nella determinazione della malformazione mediante studi di associazione. Ho analizzato alcuni polimorfismi a singolo nucleotide (SNPs) dei geni RFC1 e DHFR, appartenenti alla via metabolica dell’acido folico, evidenziando una debole associazione tra alcuni degli SNPs indagati e la NSCL/P nella popolazione italiana. Presso il laboratorio della Dott.ssa Mangold dell’Università di Bonn, ho valutato il ruolo di 15 diverse regioni cromosomiche nel determinare la suscettibilità alla malattia, evidenziando una significativa associazione per i marcatori localizzati in 8q24 e 1p22. Ho quindi rivolto la mia attenzione al ruolo del complesso Polycomb nell’insorgenza della schisi. Nell’uomo i due complessi Polycomb, PRC1 e PRC2, rimodellano la cromatina agendo da regolatori dei meccanismi trascrizionali alla base della differenziazione cellulare e dello sviluppo embrionale. Ho ipotizzato che mutazioni a carico di geni appartenenti a PRC2 possano essere considerati potenziali fattori di rischio genetico nel determinare la NSCL/P. Il razionale consiste nel fatto che JARID2, una proteina che interagisce con PRC2, è associata all’insorgenza della NSCL/P ed espressa a livello delle cellule epiteliali delle lamine palatine che si approssimano alla fusione. L’indagine condotta analizzando i geni di elementi o partner dei due complessi Polycomb, ha evidenziato un’associazione significativa con alcuni polimorfismi dei geni indagati, associazione ulteriormente confermata dall’analisi degli aplotipi. Le analisi condotte sui geni candidati mi hanno permesso di raccogliere dati interessanti sull’eziologia della malformazione. Studi indipendenti saranno necessari per poter validare l'associazione tra le varianti genetiche di questi geni candidati e la NSCL/P.

La traduzione del romanzo per ragazzi Apache - Girl Warrior di Tanya Landman: Un incontro tra storia, genere e culture.

This dissertation deals with the translation into Italian of selected passages from the Young Adult historical novel Apache – Girl Warrior by English author Tanya Landman. The book was chosen after contacting Italian publisher Settenove, dedicated to preventing gender-based violence through children's books and essays. The novel, set in the second half of the Nineteenth Century, tells the story of Siki, a fourteen years old Native American girl who decides to become a warrior in order to avenge her family, killed by the Mexicans. The story also deals with the contact and conflict between Native Americans and white settlers during the so-called Apache Wars. Chapter I deals with Apache's genre; it consists in an overview of the historical novel form and its diffusion, both in Italy and in the English-speaking world. Typical features and themes are also dealt with in this chapter. Chapter II is dedicated to Apache's author. Landman's other works and her mission as a writer are taken into account, as well as the inspirations that led her to writing the novel and the process of research on American history it involved. This chapter also includes a comparison between Tanya Landman's and Louise Erdrich's works. In chapter III, Apache is compared to two well-known novels for children and young adults, The little house on the prairie and Caddie Woodlawn; the aim of this is to demonstrate how widespread misrepresentations about Native Americans are in mainstream literature. Chapter IV analyzes the novel and serves as an introduction to its translation, focusing on its plot, themes, characters and language, while chapter V presents the passages I've chosen to translate; their translation can be found later in the same chapter. In chapter VI, I comment on the choices made during the translation process; translation problems are divided into culture-specific, stylistic, semantic and linguistic.

Prevalence of findings compatible with carotid artery calcifications on dental panoramic radiographs

Cerebrovascular accidents are responsible for killing or disabling more than half a million Americans every year. They are the third leading cause of death in this country. In Germany, the annual stroke incidence reaches 182 cases per 100,000 inhabitants. Stroke there is the fourth leading cause of death. There is a need of finding cost-effective means of decreasing stroke mortality and morbidity. Instruments for early diagnosis are of great humanitarian and economic importance. All possible clinical findings should be taken into account. It is not the demand of this study to present the panoramic radiograph as a screening test method for early diagnosis of atherosclerosis. The aim is to show the potential of this radiograph used in everyday clinical dental practice by the prevalence of radiopaque findings in the carotid region. This study included panoramic dental radiographs of 2,557 patients older than 30 years of age. Fifty-nine percent of the patients were women and 41% were men. The radiographs were adjudged for signs compatible with carotid arterial calcifications appearing as a radiopaque nodular mass adjacent to the cervical vertebrae at or below the intervertebral space C3-4. Of all these radiographs, 4.8% showed radiopaque findings compatible with atherosclerotic lesions. The proportion of women reached 64.8% and that of men reached 35.2%. In accordance to recent literature, the results of this study show that about 5% of the patients show radiological findings compatible with carotid arterial calcifications. Some of these patients at risk for a cerebrovascular accident may be identified in the dentist's office by appropriate review of the panoramic dental radiograph. The suspicion of carotid artery calcifications demands an impetuous referral to an appropriate practitioner who can assist in the control of risk factors and if necessary arrange surgical removal of the carotid arterial plaque. So, the dentist should be aware of this problem and able to make a contribution to stroke prevention.

An Ethical History of Photography in Combat and of Combat Photography in the United States during World War II

With the United States‘ entry into the Second World War, the word ?censorship? was seen largely as antithetical to, rather than a necessary counterpart to, victory among Americans. People did not want to be censored in their writing, photographs or speech,but it proved to be necessary even before the war began, in order to protect government secrets and the people on the home-front from scenes that were too disturbing. Even before the war had officially begun, there were problems with censorship among journalists and newspapers. The initial response of outrage in reference to censorship in the United States was common among journalists, newspapers, magazines, and radio news; nevertheless, there was a necessity for censorship among Americans, on the home frontand the front lines, and it would be tolerated throughout the war to ensure that enemies of America did not gain access to information that would assist in a defeat of the United States in the Second World War. The research I have conducted has dealt with the censorship of combat photography during World War II, in conjunction with the ethics that were in play at the time that affected the censors. Through exploring the work of three combat photographers — Tony Vaccaro, James R. Stephens and Charles E. Sumners — I wasable to effectively construct an explanatory ethical history of these three men. Research on the censorship and effects it had on the United States brought me to three distinctareas of censorship and ethics that would be explored: (1) the restrictions and limitations enforced by the Office of Censorship, (2) a general overview of war and photography as it influenced the soldiers and their families on the home-front, (3) and the combat photographers and personal and military censorship that influenced their work. Although their work was censored both by the military and the government, these men saw the war in a different light that remained with them long after the battles and war had ceased.Using the narratives of Tony Vaccaro, Charles E. Sumners and James R. Stephens as means for more in depth research, this thesis strives to create lenses through which to view the history and ethics of censorship that shaped combat photography during the Second World War and the images to which we refer as representative of that war today.

Health, Justice, and Fairness

In this study I will endeavor to show that the American system of health care violates any conception of distributive justice understood as equality of opportunity. This system fails to provide equal access through a lack of universal insurance, a consumer driven conception of quality, and a system wide focus on cost control, leaving millions of Americans exposed to the ravages of disease. However, if health is understood as an antecedent for one's ability to function across a number of categories that have been objectively deemed as vital to engage in a life that is fully human than the commitment our nation has to the protection of fair equality of opportunity, established by our adoption of a Rawlsian conception of justice, necessitates a revision of our nation's conception of quality to encapsulate health outcomes as well as the advent of a system of universal coverage. Quality care will come to be understood as care that returns to the patient the ability to function across those categories of functioning that illness has jeopardized, and this conception of quality will precipitate system wide reform geared at the creation of positive health outcomes. This paper will articulate this argument by reconstructing and synthesizing precepts from the contemporary philosophical sources and then applying these to the practical workings of our healthcare system, while concurrently demonstrating that a system of distributive justice is compatible with the creation of a universal system of healthcare.

So Very Far Away

I began my thesis planning to craft pieces of both fiction and nonfiction. I had very much enjoyed working on a travel essay during the fall semester, but I have always had an inherent interest in writing short stories, so I had hoped to explore both genres, using my previous work from a seminar in fiction and a travel writing class as a springboard. However, in writing “So Very Far Away,” my second nonfiction piece, which I developed from material that I was unableto keep in the essay “Lunch with the Americans,” I discovered that nonfiction was an incredibly freeing genre because the essential ingredients were already present. My personal experiences provided the basic elements of plot, character, and setting, yet I discovered new challenges as I attempted to present these experiences in a way that moved beyond mere memories and reflections and towards a larger meaning that would matter to others as well. I became sointrigued by this process of creating cohesive narratives through the editing and shaping of memories that I decided to focus completely on nonfiction for my thesis work and write a collection of essays about my time abroad.

Government Influence and the Failure of Fannie Mae and Freddie Mac

In 2008 two government-sponsored enterprises, Fannie Mae and Freddie Mac, were placed into conservatorship due to insolvency. The financial bailout of the two publically traded corporations came at the expense of the American tax payer. This study investigates the relationship between direct and indirect government influence and the increasing risk taking of Fannie Mae and Freddie Mac from the late 1990’s through their conservatorship in 2008. As government-sponsored enterprises Fannie Mae and Freddie Mac have many special advantages that other publically traded companies did not possess. These advantages allowed Fannie Mae and Freddie Mac to increase their profitability. Theoretical literature regarding Congress and the bureaucracy suggests that the actions of bureaucrats can be linked to the preferences of Congressional members because bureaucrats are responsive to potential threats or perceived threats from the legislature. This theory is applicable to Fannie Mae and Freddie Mac, and is used to explain why the government was able to directly and indirectly influence the government-sponsored enterprises. Overall this investigation has determined that the United States government pursued a clear mission that determined to increase the availability of housing to all Americans, specifically to low-income and under-served individuals, through the use of the government-sponsored enterprises. Despite this link there is no conclusive data to show that the pursuit of this housing mission led Fannie Mae and Freddie Mac to operate in riskier business segments. This study has also found that motivation regarding profit-seeking and compensation structure provide a more plausible explanation for why the government-sponsored enterprises began to engage in riskier business practices that led to their insolvency.

The Effect of Weight on the Perception of Political Candidates

Chris Christie recently visited the famous “Wailing Wall” in Jerusalem, Israel, during his first trip abroad as governor of New Jersey. The New York Post reported on his trip with the headline “The Whale at the Wall” (Campanile 2012). Given headlines like this, it is easy to see anecdotal evidence of the stigmatization that surrounds obesity within contemporary American society. What’s more important is that these social stigmas that Americans are faced with every day are not merely surface level jokes bantered about for a cheap laugh. They are often prejudices that permeate every aspect of human life. Whether it comes to finding a date, looking for a job, or trying to be taken serious by one’s peers, weight is always a topic of concern. In an effort to understand how far entrenched these biases are in society, this thesis studies the ramifications of obesity in politics. In this thesis, I attempt to understand to what extent, if any, obesity matters in regard to candidate appearance, voters' choices, and political behavior.

Rates Of Obesity And Incidence Of Diabetes In Hispanics In The United States: An Examination Of The Epidemiological Paradox

Using pooled data from the 2008-2011 National Health Interview Survey and employing multinomial and binomial logistic regression methods, this research examines disparities in rates of obesity and incidence of diabetes between individual Hispanic subgroups in comparison to non-Hispanic whites and blacks. Immigration status(including nativity, duration in the United States, and citizenship status) is hypothesized to play a central role in rates and obesity and incidence of diabetes. Unlike Cuban-Americans, Mexican-Americans, Puerto Ricans, and other Hispanics were more likely to be overweight as well as obese when compared to non-Hispanic whites. Mexican-Americans had the only significance in prevalence of type 2 diabetes in comparison to non-Hispanic whites. Both of these health outcomes are strongly associated with the various immigration variables.

Where Stories Collide : Montage and the Short Story Cycle

This thesis uses Sergei Eisenstein’s filmic theories of montage to examine the modernist American short story cycle, a genre of independent short stories that work together to create a larger and interrelated whole. Similar to the shot-by-shot editing process of montage, the story cycle builds its intertextual meaning story-by-story from an aggregate of abrupt narrative transitions and juxtapositions. Eisenstein famously felt that montage, the editing together of film fragments, was not a process of linkage, but of collision –each radically different shot in a film should crash into the next shot, until audience members were intellectually provoked into synthesizing these collisions through dialectical processes. I offer montage as an interpretive strategy for negotiating the narrative collisions in story cycles such as Sherwood Anderson’s Winesburg, Ohio, William Faulkner’s Go Down, Moses, and Eudora Welty’s The Golden Apples. For Go Down, Moses, I argue that Eisenstein’s politically rendered “montage of attractions” provides a template for investigating the shock tactics behind Faulkner’s chronologically and racially entangled stories of whites and African Americans. For The Golden Apples, I consider the opposites and doubles in Welty’s fiction with Eisenstein’s similar belief in the “opposing passions” of the world. Not only, then, do I suggest that the modernist story cycle bears a cinematic influence, but I also offer Eisenstein’s theories of montage and collision as a heuristic for formal, thematic, and even political patterns in a genre infamous for its resistance to definition and classification.

Service Use and Mental Impairment Among the Elderly: Arguments for Consultation and Education

Compared the service use patterns of older adults with varying levels of mental impairment, and assessed the effects of services received on their mental health status over a 1-yr period. Data were obtained from a US General Accounting Office (1977, 1979) study of 531 elderly persons (mean age 76.1 yrs), which included administration of a modified version of the Older Americans Resources and Services Multidimensional Functional Assessment Questionnaire. Ss were interviewed twice, 1 yr apart. 174 Ss were classified as having a mild psychiatric impairment, and 118 Ss had a severe psychiatric impairment. The existence of mental impairment was related to marital status, race, and level of education. Usage of mental health services was low, although mentally impaired Ss were more likely than unimpaired Ss to use social and medical services. Results also suggest that such services can have an important effect on the mental health of older persons.

The Resilience of Self-Esteem in Late Adulthood

OBJECTIVE: The authors examined the resilience of self-esteem after loss in the lives of older adults. Specifically, the authors investigated the relationship between loss and change in self-esteem during a 3-year period. METHOD: A subsample of older adults (n = 1,278) from the Americans' Changing Lives Study was used to examine loss in the domains of health, financial security, or work and career and self-esteem before and after the loss. RESULTS: There was a small but significant decrease in self-esteem between Wave I and Wave II of the study. Loss in one of the domains explained less than 1% of the variance in self-esteem change. DISCUSSION: The low incidence of loss and small change in high levels of self-esteem are further evidence of resilience in older adults' psychological well-being. The implications for older adults' use of cognitive strategies to manage losses and promote gains are discussed.

Mental Health and Aging at the 2005 White House Conference on Aging: Two Steps Forward, One Step Back

Success! At the 2005 White House Conference on Aging, three-quarters of the 1,200 national delegates voted to improve “recognition, assessment, and treatment of mental illness and depression among older Americans.” This resulted in mental health being ranked as #8 of the final 50 WHCoA policy resolutions resulting from the conference. Joining this resolution in the “top ten” were two resolutions intimately tied to hopes for addressing the mental health needs of older adults—at #6 “Support Geriatric Education and Training for Health Care Professionals, Paraprofessionals, Health Profession Students and Direct Care Workers,” and #9 “Attain Adequate Numbers of Healthcare Personnel in All Professions Who are Skilled, Culturally Competent, and Specialized in Geriatrics.”

Meanings of Citizenship: Czech Citizen in a Comparative Perspective

This was an interdisciplinary cross-cultural project which subjected Czech citizens to theoretical analysis and empirical examination. In the first, theoretical, part of the work a typology of post-totalitarian citizenship was proposed containing five types of citizens: responsible democratic, social materialistic, passive asocial, hedonistic consuming, and predatory antisocial. While democratic citizenship stems from preserved civic virtues, the deficient types of citizenship are partially caused by the post-totalitarian syndrome. In the concrete empirical studies of the international context the most significant aspects of citizenship were examined. Czech citizens (students) displayed an encouraging level of political civic culture when they loaded more often than six other national samples on the factor of democratic citizenship (based on a questionnaire and Q-sort by Feierabend, Q-factor analysis), but their level of loyalty and low critical rebelliousness can also be seen as reason for concern. The Czech population provided contrasting results in measures of civility; although chronically complaining about interpersonal relations, they passed relatively well in a series of situational field experiments even in the international comparison (Levine's helping measures. Czech nationalism is primarily "cultural nationalism", which is less favourable for democratic citizenship than the "civic nationalism" of Americans.

Toward the Equitable Distribution of Enriching Educational Experiences: Faculty Engagement with Racial Minority Students

Peña, Bensimon, and Colyar (2006) noted: “Not only do African Americans, Hispanics, and Native Americans have lower graduation rates than [do] Whites and Asian Americans, they also experience inequalities in just about every indicator of academic success – from earned grade point average to placement on the dean’s list to graduation rates in competitive majors” (p. 48). While these and other racialized outcomes disparities cannot be attributed to a narrow set of explanatory factors, one thing is known for sure: College students who are actively engaged inside and outside the classroom are considerably more likely than are their disengaged peers to persist through baccalaureate degree attainment. Furthermore, engaged students typically accrue the desired outcomes that are central to liberal education. This is especially true for engagement in what Kuh (2008) refers to as “high-impact” educational experiences – study abroad programs, learning communities, undergraduate research programs, service learning opportunities, and summer internships, to name a few. Unfortunately, racial minority undergraduates are considerably less likely than are their White peers to enjoy the educational benefits associated with these experiences.