Search

Hereditary Diffuse Gastric Cancer (HDGC) syndrome is associated with CDH1 germline likely pathogenic/pathogenic variants. Carriers of CDH1 germline likely pathogenic/pathogenic variants are predisposed to diffuse gastric cancer and lobular breast cancer. This study aims to classify the CDH1 c.[715G>A] missense variant identified in a diffuse gastric cancer prone family by performing splicing studies. RT-PCR and subsequent cloning experiments were performed to investigate whether this variant completely disrupts normal splicing. This variant preferentially abolishes normal splicing through activation of a cryptic 3' acceptor splice site within exon 6 of CDH1, presumably leading to a premature protein truncation within first extracellular domain repeat of E-cadherin protein. Our results contributed to evidence necessary to resolve pathogenicity classification of this variant, indicating that this variant is to be classified as pathogenic.

The spectrum of germline predisposition in pediatric cancer continues to be realized. Here we report 751 solid tumor patients who underwent prospective matched tumor-normal DNA sequencing and downstream clinical use (clinicaltrials.gov NCT01775072). Germline pathogenic and likely pathogenic (P/LP) variants were reported. One or more P/LP variants were found in 18% (138/751) of individuals when including variants in low, moderate, and high penetrance dominant or recessive genes, or 13% (99/751) in moderate and high penetrance dominant genes. 34% of high or moderate penetrance variants were unexpected based on the patient's diagnosis and previous history. 76% of patients with positive results completed a clinical genetics visit, and 21% had at least one relative undergo cascade testing as a result of this testing. Clinical actionability additionally included screening, risk reduction in relatives, reproductive use, and use of targeted therapies. Germline testing should be considered for all children with cancer.

Objective: To determine the rate and risk of clinical and personality disorders diagnosed in childhood and adulthood in those known to have been sexually abused during childhood. Methods: Forensic medical records of 2,759 sexually abused children assessed between 1964 and 1995 were linked with a public psychiatric database between 12 and 43 years later. Cases were compared to control subjects matched on gender and age groupings drawn from the general population through a random sample of the national electoral database. Results: A lifetime record of contact with public mental health services was found in 23.3% of cases compared to 7.7% of controls. The rate of contact among child sexual abuse victims was 3.65 times higher (95% CI, 3.09-4.32, p less than 0.001). It was estimated that child sexual abuse accounted for approximately 7.83% of mental health contact. Exposure to sexual abuse increased risks for the majority of outcomes including psychosis, affective, anxiety, substance abuse, and personality disorders. Rates of clinical disorders diagnosed in adulthood and childhood remained significantly higher among child sexual abuse cases. Older age at sexual abuse and those exposed to severe abuse involving penetration or multiple offenders were associated with greater risk for psychopathology. Conclusions: This study confirms that child sexual abuse is a substantial risk factor for a range of mental disorders in both childhood and adulthood. Practice implications: Those treating victims of sexual abuse must assess not only disorders commonly associated with trauma, but also low prevalence disorders such as psychosis. (Contains 4 tables.)

How can student outcomes assessment (SOA) be incorporated into ones courses and teaching? The purposes of this article are to explore a process enacted in the Department of Agronomy at Iowa State University using SOA to: (i) develop a clearer understanding of what students should learn in a course, (ii) determine how a course or courses fit within the curriculum, and (iii) improve teaching practices and ultimately students learning. An assignment from a required course in the agronomy curriculum provides an illustration of how an instructor can use a course assignment related to a program outcome(s) to assess how well students are achieving the program outcome and identify and implement course or teaching method improvements based on the assessment results. (Contains 1 figure and 1 table.)

In this study, seven graduate students were interviewed and 187 (91 online; 96 traditional) graduate students were surveyed about perceptions of differences in instructors' demands and support and student' motivation, self-regulation, satisfaction, and perceptions of learning in these environments. Results indicated significant differences in students' perceptions on all variables except self-efficacy. Results indicated a strong effect for differences between perceived instructor affective support in online and traditional classrooms. Although students in traditional classrooms ranked instructors' affective support higher, the variable had a stronger relationship with online students' satisfaction. Differences between online and traditional students' reports of instructors' academic support, instructors' demands, and students' satisfaction were significant with medium effect sizes. Results are important because they provide information about students' perceptions of the differences in environments created by instructors that relate to students' affective outcomes. (Contains 2 tables.)

Multi-media learning tools were developed to enhance student learning for an introductory agronomy course at Iowa State University. During fall 2002, the new interactive computer program, called Computer Interactive Multimedia Program for Learning Enhancement (CIMPLE) was incorporated into the teaching, learning, and assessment processes of the introductory course. At the end of the course, students completed (i) a Kolb's Learning Style Inventory, and (ii) a survey designed to record the students' use, satisfaction, and motivation to use CIMPLE. Learning outcomes were assessed using course grades. No statistically significant differences existed in CIMPLE use pattern among Kolb's five Learning Styles as students from each of these learning styles tended to use the seven components of CIMPLE about the same number of times. However, students who had a converging learning style tended to have the highest grades while students who were accommodators had the lowest grades. There was a significant positive correlation between student's motivation to use CIMPLE and the use of several components of CIMPLE, including chapter assessment, video, key concepts, practice, self-check, and environmental and ethical issues. Of the seven components of CIMPLE, only chapter assessment and environmental and ethical issues showed a significant correlation with student's final semester grades. This research is significant in demonstrating that computer-aided instruction can be designed to appeal to students across all learning styles. Further, this research demonstrates a connection between students' motivation to use instructional technology and the frequency of using the technology, and offers suggestions of ways to increase use and motivation of technology to improve learning outcomes. (Contains 5 tables.)

A New Zealand mail survey (n=1,376) and interviews (n=497) evaluated the long-term impact of physical, emotional, and sexual abuse of female children surveyed as adults. Similarities in outcomes among the three forms of abuse were more apparent than differences, though sexual abuse was particularly associated with sexual problems, emotional abuse with low self-esteem, and physical abuse with marital breakdown. (Author/DB)

Employed Nominal Group and Delphi techniques of group decision-making to identify and determine relative intensity of stressors of nursing home administrators in Texas. Revealed that most stressful conditions involved relations with persons and agencies outside the nursing home: state agencies, legislators, general public, and relatives of patients. (Author/NRB)

Examined the relationship of age and trust to perceived safety from crime among 891 rural residents from a statewide victim study. Trust was found to be a more important predictor of perceived safety than age, isolation, and income. Age had a direct, independent effect on perceived safety. (Author/NRB)