GENETIC COUNSELOR UTILIZATION AND INTERPRETATION OF SOMATIC TUMOR TESTING IN EVALUATION FOR LYNCH SYNDROME

Lynch syndrome (LS) is a hereditary cancer predisposition syndrome characterized by increased risk for colorectal and uterine cancers. Individuals with pathogenic variants in the mismatch repair (MMR) genes (MLH1, MSH2/EPCAM, MSH6, PMS2) are diagnosed with LS and subsequently recommended to proceed with high risk screening protocols to increase prevention and early detection of LS-related cancers. Various tumor studies can help identify those at high risk for LS, but sometimes create uncertainty with discordant screening and germline results, leading to unexplained mismatch repair deficiency (UMMRD). Somatic testing of the MMR genes has created opportunities for resolving UMMRD, thus clarifying LS status and ensuring appropriate cancer surveillance. However, guidelines for such testing are currently limited. The purpose of this study was to examine current and hypothetical ordering practices of cancer genetic counselors for LS evaluation and to investigate participants’ interpretation of somatic MMR testing results. Two-hundred eligible participants were recruited through the National Society of Genetic Counselors listserv and answered questions regarding demographics, ordering practices, barriers to somatic MMR testing, theoretical patient scenarios, and need for further guidelines. Statistical analysis was done using Chi-square, Fisher exact, and Wilcoxon rank-sum tests while themes were identified from free-text responses. Most respondents did not include somatic MMR testing in the work-up for LS and did not routinely order this testing, but indicated interest in ordering this in conjunction with germline testing. The gap between preferred testing strategies and current ordering practices for somatic MMR testing may be due to reported laboratory and insurance-related barriers, particularly cost and coordination of tissue specimens. Nearly all individuals endorsed the need for additional guidelines for somatic MMR testing, which could provide support to reduce barriers, encourage insurance coverage, and allow for appropriate screening recommendations for patients and family members of those with UMMRD

Hurting to Cope: Self-Injurious Behavior as an Escape from Self-Focus

Self-injurious behavior (SIB) is a prevalent problem in today’s society and is estimated to affect 4% of the general population (Darche, 1990; Nock & Prinstein, 2004). SIB has been described as a form of coping (Fliege et al., 2006) and a means of escaping negative feelings (Barrera, Violo & Graver, 2007; Nock & Prinstein, 2004), however it has not been examined within the framework of Baumeister’s escape-style-coping theory (Baumeister, 1991a; 1991b). In addition, although escape-style-coping theory has been linked with self-focused temperament (Spievak, 2003), SIB has not been examined in relation to chronic self-focus. It was hypothesized that those individuals who reported self-injury would also be high in self-focus and report other related escape-style-coping behaviors. The results of two studies supported a positive correlation between self-injury and self-focus and related escape-style-coping behaviors

SECONDARY ANALYSIS OF THE EFFECTS OF MOBILITY ON BARIATRIC PATIENTS HAVING WEIGHT LOSS SURGERY

Mobility typically becomes an issue in the elderly, people with injuries and severely obese individuals. Severely obese, bariatric patients were the focus of a study conducted by Roberson, Neil, Pories, & Rose (2016). A qualitative study was done using 24 patients to determine their reasons for seeking bariatric surgery. This qualitative descriptive secondary analysis was conducted using data from the original study and focused on the issues of mobility that were contained in the interviews as stated by each participant. Colaizzi’s procedural steps of qualitative analysis was used for data analysis and four main themes were identified. The findings showed that lack of mobility impacts a patient’s ability to exercise before weight loss surgery, and their lifestyle habits overall were altered. This impacts the field of nursing since the participants are a sample of the bariatric surgical patient population who can be found in a multitude of healthcare facilities throughout the nation. Nurses should be able to safely help patients move by including the use of specialty equipment based on their reported mobility level

Pitch Perception and Encoding Pitch Contours in College Aged Individuals with Autism Spectrum Disorder

Pitch Perception and Encoding Pitch Contours in College Aged Individuals with Autism Spectrum Disorder Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficits in communication and social interaction. Previous research has suggested that individuals with ASD exhibit deficits in the identification of verbally-expressed emotions. Emotion is carried by a property of speech known as prosody, which is characterized by dynamically changing pitch patterns and temporal attributes. The auditory brainstem is responsible for the proper encoding of the changing pitch. However, it has been found that in people with ASD, the auditory brainstem is not able to track and encode prosody correctly. Therefore, it is extremely difficult for people with ASD to accurately perceive emotion. The current experiment investigated whether pitch perception training can result in improved perception of pitch and, consequently, improved identification of emotion. Pitch perception and emotional identification were assessed prior to training and again after six perceptual training sessions. During each training session, participants listened to synthesized pitch contours that were originally derived from speech. During each session, participants listened to a stimulus, either a rising or descending pitch, and then indicated using the keyboard the direction of the pitch change. Accuracy was reinforced with immediate feedback. Participants were exposed to more than 600 changing pitches over the duration of the study. They also completed two emotional recognition tasks, one before the first pitch tracking session and one after the last session. For this task, participants listened to 57 phrases that communicated happiness, sadness, or anger. Results, which will indicate whether the training resulted in improved pitch perception, emotional recognition, or both, will be discussed. Keywords: Autism Spectrum Disorder, Autism, Prosody, Emotion, Pitch Perceptio

I Can Sing and Tell a Tale: Perception and the Self-Reflexive Nature of the Old English Poet

More than one contemporary scholar has written about the “search” for the Anglo-Saxon oral poet. They consider historical texts and poetry and every other possible place where some record of who the Anglo-Saxon scop may have been might be found. Some claim to recognize the Old English poet by the end of their search while others declare the entire pursuit to be futile for lack of substantial evidence. This study is somewhat of a combination of the two. Each chapter does take part in the search for the Old English poet figure, but it is not for the sake of discovering any real person or group of people. There is an unfortunate dearth of poets in historical records and very little evidence that a scop or oral poet position even existed. Searching for such a figure would prove to be a frustrating task indeed. Instead, this study sets out to discover the mentality of the Anglo-Saxon people in regards to the poet as a societal figure. By examining how the poet is portrayed for the Anglo-Saxons, we may come to understand who the poet was to those people: a worldly traveler who told them stories, a wise teacher who remembered their history, a talented craftsman who shared their skills. Together, these roles make up who the poet was to the people around them. Admired and respected, poets were appreciated by those for whom poetry was an essential part of life

The AlgZ/R Two-Component System Is Responsible for Attenuation of Virulence in Pseudomonas aeruginosa

Pseudomonas aeruginosa is an important opportunistic pathogen. Many P. aeruginosa virulence factors are regulated by the AlgZ/R two component system. AlgZ is the sensor histidine kinase which phosphorylates AlgR, the response regulator. AlgR activates transcription of different gene targets based upon its phosphorylation state. The genes that encode AlgZ and AlgR are transcribed in an operon. While regulation of algR expression has been well studied, regulation of algZ expression has not. Using a pilW mutant in concert with algZTF-lacZ transcriptional fusion, we conducted a transposon mutagenesis to identify algZ regulators. We identified an unknown autoregulatory loop. The type IV pilus minor pilins prevent the phosphorylation of AlgR by AlgZ . This inhibition of the AlgZ/R system subsequently down-regulates both the expression of the fimU operon and the algZ/R operon. Because AlgR regulates virulence, it is possible that virulence can also be reduced by targeting activation of the AlgZ/R system