15 research outputs found

    Ursinus College Alumni Journal, August 1966

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    Departure day • Guidance • Counseling Ursinus students • Guiding high school students • Bertolt Brecht in America and East Berlin • From the President • The other side of the desk • Ursinus grizzly leaps the first Alumni Centennial Fund hurdle • A debate on war livens Alumni Day • Ups & downs of progress • Sporting scene: Lacrosse; Top athlete graduates; Wrestling; Tennis; Baseball; Track • Regionals: Each spring meeting has a style of its own • Campus clippings • Class notebook • Weddings • Births • In memoriamhttps://digitalcommons.ursinus.edu/alumnijournal/1086/thumbnail.jp

    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

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    Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5.2% were associated with pathogenic genomic imbalances, and 7.3% disrupted topologically associated domains (TADs) encompassing known syndromic loci. Remarkably, BCA breakpoints in eight subjects altered a single TAD encompassing MEF2C, a known driver of 5q14.3 microdeletion syndrome, resulting in decreased MEF2C expression. We propose that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology

    Multi-Level Protective and Risk Factors Longitudinally Associated with Dating Violence Perpetration among Non-Urban Mexican-American Adolescents

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    To assess the longitudinal relationship between individual and interpersonal risk and protective factors and dating violence perpetration among non-urban Mexican-American youth. With data from a 24-month prospective cohort study (2015–2019; baseline recruitment spanned from 2015–2017; four follow-up interviews every 6 months) of Mexican-American youth (8th grade at baseline) living in an agricultural region (Salinas, California), we utilized multivariable modified Poisson general estimating equations stratified by gender (n = 489) to assess the relationships of religiosity, non-violent problem-solving skills, school connectedness, family cohesion, and bullying victimization with dating violence perpetration. Among girls, but not boys, non-violent problem-solving skills [adjusted relative risk (ARR): 0.7; 95% confidence interval (CI): 0.56–0.99] and family cohesion (ARR: 0.7; 95% CI: 0.48–0.97) were negatively associated with dating violence perpetration, and frequency of bullying victimization was positively associated (ARR: 1.9; 95% CI: 1.37–2.59). Non-urban Mexican-American female youth may benefit from multi-level dating violence prevention that strengthens family cohesion by building upon the Mexican-American cultural value of familismo and addresses common risk factors for bullying and dating violence perpetration. Additionally, results affirm etiological differences between girls’ and boys’ dating violence perpetration and the need for improved measurement

    Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

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    Mosaic aneuploidy and uniparental disomy (UPD) arise from mitotic or meiotic events. There are differences between these mechanisms in terms of (i) impact on embryonic development; (ii) co-occurrence of mosaic trisomy and UPD and (iii) potential recurrence risks. We used a genome-wide single nucleotide polymorphism (SNP) array to study patients with chromosome aneuploidy mosaicism, UPD and one individual with XX/XY chimerism to gain insight into the developmental mechanism and timing of these events. Sixteen cases of mosaic aneuploidy originated mitotically, and these included four rare trisomies and all of the monosomies, consistent with the influence of selective factors. Five trisomies arose meiotically, and three of the five had UPD in the disomic cells, confirming increased risk for UPD in the case of meiotic non-disjunction. Evidence for the meiotic origin of aneuploidy and UPD was seen in the patterns of recombination visible during analysis with 1–3 crossovers per chromosome. The mechanisms of formation of the UPD included trisomy rescue, with and without concomitant trisomy, monosomy rescue, and mitotic formation of a mosaic segmental UPD. UPD was also identified in an XX/XY chimeric individual, with one cell line having complete maternal UPD consistent with a parthenogenetic origin. Utilization of SNP arrays allows simultaneous evaluation of genomic alterations and insights into aneuploidy and UPD mechanisms. Differentiation of mitotic and meiotic origins for aneuploidy and UPD supports existence of selective factors against full trisomy of some chromosomes in the early embryo and provides data for estimation of recurrence and disease mechanisms

    Services Trade and Policy

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    A substantial body of research has taken shape on trade in services since the mid-1980s. Much of this is inspired by the WTO and regional trade agreements. However, an increasing number of papers focus on the impacts of unilateral services sector liberalization. The literature touches on important linkages between trade and FDI in services and the general pattern of productivity growth and economic development. This paper surveys the literature on services trade, focusing on contributions that investigate the determinants of international trade and investment in services, the potential gains from greater trade, and efforts to cooperate to achieve such liberalization through trade agreements. There is increasing evidence that services liberalization is a major potential source of gains in economic performance, including productivity in manufacturing and the coordination of activities both between and within firms. The performance of service sectors, and thus services policies, may also be an important determinant of trade volumes, the distributional effects of trade, and overall patterns of economic growth and development. At the same time, services trade is also a source of increasing political unease about the impacts of globalization on labor markets, linked to worries about offshoring and the potential pressure this places on wages in high income countries.

    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

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