X-linked Malformation and Infantile Lethality Syndrome (provisionally named Ogden Syndrome)

This is a lethal X-linked disorder of infancy comprising a distinct combination of distinctive craniofacial features producing an aged appearance, growth failure, hypotonia, global developmental delays, cryptorchidism, and acquired cardiac arrhythmias. The first family was identified in Ogden, Utah, with five affected boys in two generations of family members. A mutation was identified as a c.109T>C(p.Ser37Pro) variant in NAA10, a gene encoding the catalytic subunit of the major human N-terminal acetyltransferase (NatA). This same mutation was identified in a second unrelated family, with three affected boys in two generations. This X-linked Malformation and Infantile Lethality Syndrome has provisionally been named Ogden Syndrome, in honor of the hometown where the first family resides

Whole Genome Sequencing Analysis of an Idiopathic Intellectual Disability Syndrome

We present a new idiopathic intellectual disability syndrome accompanied with distinctive facial dysmorphology. X-chromosome inactivation assays reveal skewing in the mother, suggesting the possibility of an X-linked disorder. High-density genotyping arrays were performed on both children revealing no known causal or pathogenic SNVs and no known CNVs that might contribute to the phenotype. Whole genome sequencing was performed with Complete Genomics and subsequent sequence analysis led to the identification of severa

Death as Theme and Dramatic Device in the Theatre of Jean Cocteau

The purpose of this paper will be as follows: in Chapter I to study Cocteau's references and reactions to death in his own life; in Chapter II to discuss the theme of death as it appears in his theatre; in Chapter III to examine the techniques in which death is presented on his stage; to assess, in the Conclusion, the dramatic value of both the theme of death and its expression and the effectiveness and suitability of the mise en scène in the presentation of this theme.Master of Arts (MA

Natural Theology in Evolution : A Review of Critiques and Changes

The purpose of this article is to provide a broad overview and analysis of the evolution of natural theology in response to influential critiques raised against it. I identify eight main lines of critique against natural theology, and analyze how the defenders of different types of natural theology differ in their responses to these critiques, leading into several very different forms of natural theology. Based on the amount and quality of discussion that exists, I argue that simply referring to the critiques of Hume, Kant, Darwin, and Barth should no longer be regarded as sufficient to settle the debate over natural theology.Peer reviewe

The Development of Creative Self-Expression: A Right Hemispheric Approach

Valerie Rope’s 1978 thesis, The Development of Creative Self-Expression: A Right-Hemispheric Approach, explores how engaging the brain’s right hemisphere fosters creativity and emotional well-being. Rooted in humanistic psychology, the study examines the dichotomous functions of the brain’s hemispheres—where the left hemisphere processes analytical and verbal tasks, and the right hemisphere governs intuition, spatial awareness, and artistic expression. Rope details how early childhood experiences shape creative development, emphasizing that many individuals experience creative blocks due to left-brain dominance reinforced by traditional education. She presents a right-hemispheric approach to drawing and painting that helps individuals overcome these barriers. Techniques such as contour drawing, negative space awareness, and circumscribed drawing allow for a natural, uninhibited artistic process. The study also highlights the emotional benefits of creative self-expression, linking it to psychological well-being. Through workshops and classroom experiences, Rope demonstrates how children use art to navigate emotions, resolve conflicts, and express grief. The study concludes that fostering right-brain engagement not only enhances artistic ability but also contributes to personal growth and self-discovery. Her findings advocate for a more holistic, experience-based approach to art education that prioritizes creative exploration over rigid technical instruction

Relationship Between Neck Circumference and Cardiometabolic Parameters in HIV-Infected and non–HIV-Infected Adults

OBJECTIVE: Upper body fat is associated with increased cardiometabolic risk. More recently, neck circumference (NC) and/or neck fat have been associated with hyperlipidemia, impaired glucose homeostasis, and hypertension. The objective of this study was to determine whether this relationship is evident in HIV-infected individuals, who often exhibit changes in relative fat distribution, and to determine whether NC is independently associated with carotid intima-media thickness (cIMT) in HIV and non–HIV-infected patients. RESEARCH DESIGN AND METHODS: Body composition, including anthropometrics, visceral adipose tissue assessment by CT, and metabolic parameters, including lipids, cIMT, and oral glucose tolerance test, were measured in 174 men and women with HIV infection and 154 non–HIV-infected subjects. NC was measured in triplicate inferior to the laryngeal prominence. RESULTS: In univariate analysis, NC was significantly and positively related to blood pressure, hemoglobin A1c, glucose, and insulin and significantly and negatively related to HDL cholesterol in HIV-infected individuals and HIV-negative control subjects. NC was significantly associated with cIMT in univariate regression analysis among HIV-infected (r = 0.21, P = 0.006) and non–HIV-infected (r = 0.31, P = 0.0001) patients. This relationship remained significant among non–HIV-infected patients (R2 = 0.45, P < 0.001) but not HIV-infected patients in multivariate modeling controlling for age, sex, race, smoking hypertension, glucose, and lipids. CONCLUSIONS: Among both HIV and non–HIV-infected patients, increased NC is strongly associated with decreased HDL and impaired glucose homeostasis. Among non–HIV-infected subjects, NC also predicts increased cIMT when controlling for traditional risk factors

Identifying differences in testing attitudes, practices, and concerns of teachers in outcome- and nonoutcome-based elementary schools

This study sought to determine whether implementation of the outcome-based education (OBE) model was accompanied by a shift in teacher attitudes, practices, and concerns about student assessment. A total of 96 Iowa elementary school teachers in grades one through five volunteered to participate in this study about classroom assessment. Sixty-six teachers in outcome-based schools and 30 teachers in nonoutcome-based schools completed the 20-item questionnaire. In particular, it tried to verify teachers\u27 attitudes about assessment-related decisions, the level of use of six different types of assessment instruments, and the primary concerns of teachers about each test type. The study also attempted to determine whether teachers\u27 responses were independent of the subject on which the respondent was asked to focus, age, and education level of the respondent;Results showed that (1) no significant differences were found for the 20 items between teachers in outcome- and nonoutcome-based schools at the.05 level of significance; (2) reading teachers reported that testing as a means of communicating expectations was less important than did teachers of mathematics; (3) more teachers aged 36 and older reported that they were comfortable using standardized tests in the classroom than did their younger colleagues; and (4) teachers with a bachelor\u27s degree more often reported that they comfortably used structured performance assessment than did teachers with a master\u27s degree or higher education level;Five key conclusions that may explain the lack of differences found between the outcome- and nonoutcome-based teachers are: (1) teachers in the nonoutcome-based school, while not officially part of the OBE movement, may be philosophically aligned with the OBE model; (2) OBE districts in this study have not fully implemented the outcome-based model; (3) the OBE districts may need more time before the assessment aspects of the model can be measured; (4) the 20-item questionnaire is not a valid measure of teachers\u27 assessment practices; and (5) OBE, as practiced, does not make a difference in teachers\u27 assessment practices