Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020.

Cornelia de Lange syndrome (CdLS) is a spectrum disorder due to variants in genes of the cohesin protein complex. The following abstracts are from the Cornelia de Lange Syndrome Scientific and Educational Symposium held virtually in October 2020. Aspects of behavior, including autistic features, impulsivity, adaptive skills, executive function, and anxiety are described.

Using Manchester Scale classification of Hallux Valgus as a valuable tool in determining appropriate risk categorization during initial diabetic foot screening in primary health care settings.

Limitations have been identified in the current state of primary care practises with regards to identifying and correctly categorizing foot deformity and its associated risk of developing foot ulcers in patients with diabetes. This study aims to bridge these gaps through the implementation of additional categorization tools to be made available for primary care professionals. This study thus analysed the relationship between foot pressure distribution and amount in patients with diabetes with Hallux Valgus foot deformity, and its different stages, in order to better understand the clinical applications of the Manchester Scale.

Can a Theater Acting Intervention Enhance Inhibitory Control in Older Adults? A Brain-Behavior Investigation.

Studies of reactive and proactive modes of inhibitory control tend to show age-related declines and are accompanied by abnormalities in the prefrontal cortex. We explored which mode of inhibitory control would be more amenable to change and accrue greater benefits following engagement in a 4-week theater acting intervention in older adults. These gains were evaluated by performance on the AX-CPT task.

Testing the Stability of Plasma Protein and Whole Blood RNA in Archived Blood of Loggerhead Sea Turtles, .

Sample storage conditions can affect accuracy and reproducibility of biological measurements. Storing samples rapidly at the lowest available temperatures is considered ideal but is not always feasible when sampling in remote and logistically challenging field conditions, as is often the case with sea turtles. The objective of this study was to examine the stability of plasma proteins and quality of whole blood RNA from loggerhead sea turtle samples collected as part of an eighteen-year-long curated specimen collection.

Does Repetition Matter? Analysis of Biology Majors' Ability to Comprehend Journal Articles Across a Major.

The ability to read and critically analyze the primary literature is a core skill necessary for future success in scientific fields. While many studies have described methodologies to teach journal reading, no studies examine how much practice and repetition is required before students learn how to comprehend a journal article. Here we assessed student journal reading and comprehension throughout an undergraduate biology major, analyzing students in six upper-level elective courses, some of which had no journal reading requirements while others had extensive requirements built into the course.

Home and Clinical Literacy Practices for Children With Cleft Lip and Palate.

Objective: The purpose of this study was to examine experiences and practices related to supporting literacy development and preventing reading difficulties in children with cleft lip and/or palate (CL/P).

Methods: Via online surveys, 67 respondents including 35 parents/guardians of children with CL/P and 32 speech-language pathologists (SLPs) answered questions about home literacy practices, clinical practices, and perceptions of SLPs' role in literacy.

Results: The variability in responses highlights both the positive contributions of parents/guardians and SLPs in supporting literacy development and preventing reading disabilities in children with cleft and the need for increased education and efforts to meet their literacy needs.

Fighting fatigue: A conceptual model of driver sleep in the gig economy.

The purpose of this paper was to integrate the sleep science, occupational health, and organizational psychology literature to develop a conceptual model of driver sleep and fatigue in the gig economy. We develop an integrative framework, which proposes that aspects of the on-demand driving context influence driver sleep health and fatigue. Driver outcomes include safety incidents, injuries, health, job attitudes, interpersonal behavior, and performance.

Examination of Narrative Language at Microstructural and Macrostructural Levels in Spanish-Speaking Preschoolers.

Purpose The purpose of this study was to examine narrative language samples of Spanish-speaking preschoolers to analyze changes in microstructural and macrostructural skills in their first language (L1) from fall to spring, relationships between narrative and vocabulary skills in L1, and the extent to which fall skills predict spring performance. Method Participants included 40 Spanish-speaking children who were enrolled in community-based preschool programs. Narrative language retells from the fall and spring were examined, and microstructural and macrostructural components were analyzed using the Narrative Assessment Protocol-Spanish and the Narrative Scoring Scheme, respectively.

The affiliative consequences of same-race and cross-race mimicry.

Few studies have replicated and extended the classic mimicry → liking effect. The present research sought to (a) replicate the affiliative consequences of mimicry; (b) test whether the affiliative consequences hold in a context where mimicry may not be normative (i.e.

The Effectiveness of a Distance Peer Mentor Training Program with Military Spouses with Children with Autism.

Several researchers have described a training for mentorship programs; however, few studies have examined the effects of mentor training on mentor knowledge of communication strategies taught in the training. This investigation developed and tested a distance peer mentor training for military spouses with children with autism. Results indicated prospective military spouse mentors scored significantly higher on training assessments than those in the comparison group, demonstrating they acquired knowledge and skills from the online training.

A One-Year Introductory Biology Majors' Lab Sequence Incorporating .

The introduction of Vision and Change by AAAS and the recommendation that biology departments amend their curricula to focus on key concepts and skills necessary for graduates have led to a re-envisioning of introductory curricula across the nation. Many of the "standard" biology text books have realigned their focus with Vision and Change, while new texts have emerged that completely revise how we teach introductory biology majors. One such textbook is (ICB), by Campbell, Heyer, and Paradise.

Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018.

Cornelia de Lange Syndrome (CdLS), due to mutations in genes of the cohesin protein complex, is described as a disorder of transcriptional regulation. Phenotypes in this expanding field include short stature, microcephaly, intellectual disability, variable facial features and organ involvement, resulting in overlapping presentations, including established syndromes and newly described conditions. Individuals with all forms of CdLS have multifaceted complications, including neurodevelopmental, feeding, craniofacial, and communication.

The Influence of Linguistic Demand on Symptom Expression in Adductor Spasmodic Dysphonia.

Introduction: Adductor Spasmodic Dysphonia (ADSD), a form of focal dystonia, has been defined as a neurogenic, task-specific disorder characterized by abrupt spasms of intrinsic laryngeal muscles that result in phonatory breaks. Voice breaks are typically isolated to propositional speech, and reported to increase in severity as speaking demand or complexity increases. Research to date has focused on variations in phonologic contexts and their influence on voice breaks.

Conflating Temporal Advancement and Epistemic Advancement: The Progression Bias in Judgment and Decision Making.

When seeking out the truth about a certain aspect of the world, people frequently conduct several inquiries successively over a time span. Later inquiries usually improve upon earlier ones; thus, it is typically rational to expect the finding of a later inquiry to be closer to the truth than that of an earlier one. However, when no meaningful differences exist between earlier and later inquiries, later findings should not be considered epistemically superior.

"I Would Like for My Child to be Happy with His Life": Parental Hopes for Their Children with ASD Across the Lifespan.

The purpose of this project was to understand the hopes of parents with children with ASD. Particularly understudied are the hopes parents have for long-term outcomes for their child. A cross-sectional focus group design was used and six focus groups were completed.

Differential plasticity of membrane fatty acids in northern and southern populations of the eastern newt (Notophthalmus viridescens).

Seasonal changes in membrane composition and metabolic activity allow many temperate ectotherms to contend with changes in body temperature, but few studies have investigated whether the plasticity of these traits has diverged within a single species. Therefore, we studied the effects of thermal acclimation on the membrane fatty acid composition and the activities of cytochrome c oxidase (CCO) and citrate synthase (CS) in the skeletal muscle and liver of eastern newts from Maine and Florida. Newts were acclimated to either 6 °C or 28 °C for 12 weeks prior to experiments.

Polo-Like Kinase 4 (PLK4) Is Overexpressed in Central Nervous System Neuroblastoma (CNS-NB).

Neuroblastoma (NB) is the most common extracranial solid tumor in pediatrics, with rare occurrences of primary and metastatic tumors in the central nervous system (CNS). We previously reported the overexpression of the polo-like kinase 4 (PLK4) in embryonal brain tumors. PLK4 has also been found to be overexpressed in a variety of peripheral adult tumors and recently in peripheral NB.

Mathematical modeling of bone marrow - peripheral blood dynamics in the disease state based on current emerging paradigms, part II.

The cancer stem cell hypothesis has gained currency in recent times but concerns remain about its scientific foundations because of significant gaps that exist between research findings and comprehensive knowledge about cancer stem cells (CSCs). In this light, a mathematical model that considers hematopoietic dynamics in the diseased state of the bone marrow and peripheral blood is proposed and used to address findings about CSCs. The ensuing model, resulting from a modification and refinement of a recent model, develops out of the position that mathematical models of CSC development, that are few at this time, are needed to provide insightful underpinnings for biomedical findings about CSCs as the CSC idea gains traction.

Aberrant DNMT3B7 expression correlates to tissue type, stage, and survival across cancers.

Cancer cells are known for aberrant methylation patterns leading to altered gene expression and tumor progression. DNA methyltransferases (DNMTs) are responsible for regulating DNA methylation in normal cells. However, many aberrant versions of DNMTs have been identified to date and their role in cancer continues to be elucidated.

Perinatal specimens of from the Upper Cretaceous of Montana (USA): insights into the early ontogeny of saurolophine hadrosaurid dinosaurs.

Perinatal specimens of hadrosaurids discovered in the late 1970's by field crews from Princeton University were significant in providing evidence of the early ontogenetic stages in North American dinosaurs. These specimens from the Campanian (Upper Cretaceous) Two Medicine Formation of Montana consist of over a dozen skeletons referable to the saurolophine hadrosaurid , but never fully figured or described. Here, we provide a more complete documentation of the morphology of these specimens, along with an examination of variation during a large span of the development of saurolophine hadrosaurids.

"To Be Quite Honest, If It Wasn't for Videogames I Wouldn't Have a Social Life at All": Motivations of Young Adults With Autism Spectrum Disorder for Playing Videogames as Leisure.

Purpose: Leisure activities are underutilized as a context for intervention in the field of speech-language pathology despite the fact that leisure can be an important context for skill development. The current study investigated the perceptions of individuals with autism spectrum disorder (ASD) who play videogames as their primary leisure activity regarding the role of videogames in their lives and their motivations for playing videogames.

Method: Qualitative interview methodology was used to investigate the experiences of 10 18-24-year-olds with ASD.

Informant similarities, twin studies, and the assessment of externalizing behavior: A meta-analysis.

The purpose of this study was to examine similarity within informant ratings of the externalizing behavior of monozygotic (MZ) and dizygotic (DZ) twin pairs. To do this, we conducted a meta-analysis of correlations within ratings completed by mothers, fathers, teachers, and youth. We retrieved n=204 correlations for MZ twins and n=267 correlations for DZ twins from n=54 studies containing n=55 samples.

Grounding responsibility in something (more) solid.

The cases that Doris chronicles of confabulation are similar to perceptual illusions in that, while they show the interstices of our perceptual or cognitive system, they fail to establish that our everyday perception or cognition is not for the most part correct. Doris's account in general lacks the resources to make synchronic assessments of responsibility, partially because it fails to make use of knowledge now available to us about what is happening in the brains of agents.

Providing Social Support for Underrepresented Racial and Ethnic Minority PhD Students in the Biomedical Sciences: A Career Coaching Model.

Improvement in the proportion of underrepresented racial and ethnic minorities (URMs) in academic positions has been unsatisfactory. Although this is a complex problem, one key issue is that graduate students often rely on research mentors for career-related support, the effectiveness of which can be variable. We present results from a novel academic career "coaching" intervention, one aim of which was to provide supplementary social support for PhD students, particularly those from underrepresented backgrounds.

SIgA and Upper Respiratory Syndrome During a College Cross Country Season.

We examined the changes in salivary immunoglobulin A (SIgA) and the incidence of upper respiratory syndrome (URS) throughout a college cross-country season as well as the acute effect of a VO test on SIgA. Subjects were 22 cross country athletes (XC) (20.7±0.