The International Family Study of Nonsyndromic Orofacial Clefts: Design and Methods.

BACKGROUND: The majority of research to understand the risk factors of nonsyndromic orofacial clefts (NSOFCs) has been conducted in high-income populations. Although patients with NSOFCs in low- and middle-income countries (LMICs) are at the highest risk of not receiving care, global health infrastructure allows innovative partnerships to explore the etiologic mechanisms of cleft and targets for prevention unique to these populations. METHODS: The International Family Study (IFS) is an ongoing case-control study with supplemental parental trio data designed to examine genetic, environmental, lifestyle, and sociodemographic risk factors for NSOFCs in 8 LMICs (through August 2020). Interview and biological samples are collected for each family. The interview includes demographics, family history of cleft, diet and water sources, maternal pregnancy history, and other lifestyle and environmental factors. RESULTS: Seven of 8 countries are currently summarized (2012-2017) for a total of 2955 case and 2774 control families with 11 946 unique biological samples from Vietnam, Philippines, Honduras, Madagascar, Morocco, Democratic Republic of the Congo, and Nicaragua. The phenotype distribution was 1641 (55.5%) cases with cleft lip and palate, 782 (26.5%) with cleft lip (CL), and 432 (14.6%) with cleft palate (CP). DISCUSSION: The International Family Study is the largest case set of NSOFCs with an associated biobank in LMICs currently assembled. The biobank, family, and case-control study now include samples from 8 LMICs where local health care infrastructure cannot address the surgical burden of cleft or investigate causal mechanisms. The International Family Study can be a source of information and may collaborate with local public health institutions regarding education and interventions to potentially prevent NSOFCs.

Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians.

Genome-wide association studies (GWAS) for orofacial clefts have identified several susceptibility regions, but have largely focused on non-Hispanic White populations in developed countries. We performed a targeted genome-wide study of single nucleotide polymorphisms (SNPs) in exons using the Illumina HumanExome+ array with custom fine mapping of 16 cleft susceptibility regions in three underserved populations: Congolese (87 case-mother, 210 control-mother pairs), Vietnamese (131 case-parent trios), and Filipinos (42 case-mother, 99 control-mother pairs). All cases were children with cleft lip with or without cleft palate. Families were recruited from local hospitals and parental exposures were collected using interviewer-administered questionnaires. We used logistic regression models for case-control analyses, family-based association tests for trios, and fixed-effect meta-analyses to determine individual SNP effects corrected for multiple testing. Of the 16 known susceptibility regions tested, SNPs in four regions reached statistical significance in one or more of these populations: 1q32.2 (IRF6), 10q25.3 (VAX1), and 17q22 (NOG). Due to different linkage disequilibrium patterns, significant SNPs in these regions differed between the Vietnamese and Filipino populations from the index SNP selected from previous GWAS studies. Among Africans, there were no significant associations identified for any of the susceptibility regions. rs10787738 near VAX1 (P = 4.98E-3) and rs7987165 (P = 6.1E-6) were significant in the meta-analysis of all three populations combined. These results confirm several known susceptibility regions and identify novel risk alleles in understudied populations.

Uncovering nurse educators' beliefs and values about grading academic papers: guidelines for best practices.

Fair and consistent assessment, specifically grading, is crucial to teaching and learning scholarship and is a professional responsibility of nurse educators. Yet, many would agree that assessment is one of the most challenging aspects of their role. Despite differing beliefs, values, and meanings attributed to grading and grades, teachers' grading practices should be guided by principles and supported by policies. Inconsistent grading practices among educators, students' unrealistic expectations of grades, and a trend toward grade inflation may be contributing to both educators' and students' concerns. A teaching scholarship project that led to a research study explored nurse educators' beliefs, values, and practices related to the grading of written academic work. The purpose of this article is to share the findings and the resulting grading guidelines that were developed to support nurse educators' endeavors to enact equitable grading practices.

Genome Analysis Using Whole-Exome Sequencing of Non-Syndromic Cleft Lip and/or Palate from Malagasy Trios Identifies Variants Associated with Cilium-Related Pathways and Asian Genetic Ancestry.

BACKGROUND: Orofacial clefts (OFCs) are common congenital disabilities that can occur as isolated non-syndromic events or as part of Mendelian syndromes. OFC risk factors vary due to differences in regional environmental exposures, genetic variants, and ethnicities. In recent years, significant progress has been made in understanding OFCs, due to advances in sequencing and genotyping technologies. Despite these advances, very little is known about the genetic interplay in the Malagasy population. METHODS: Here, we performed high-resolution whole-exome sequencing (WES) on non-syndromic cleft lip with or without palate (nCL/P) trios in the Malagasy population (78 individuals from 26 families (trios)). To integrate the impact of genetic ancestry admixture, we computed both global and local ancestries. RESULTS: Participants demonstrated a high percentage of both African and Asian admixture. We identified damaging variants in primary cilium-mediated pathway genes WNT5B (one family), GPC4 (one family), co-occurrence in MSX1 (five families), WDR11 (one family), and tubulin stabilizer SEPTIN9 (one family). Furthermore, we identified an autosomal homozygous damaging variant in PHGDH (one family) gene that may impact metabiotic activity. Lastly, all variants were predicted to reside on local Asian genetic ancestry admixed alleles. CONCLUSION: Our results from examining the Malagasy genome provide limited support for the hypothesis that germline variants in primary cilia may be risk factors for nCL/P, and outline the importance of integrating local ancestry components better to understand the multi-ethnic impact on nCL/P.

Exploring student perceptions of the learning environment in four health professions education programs.

The desire to support student learning and professional development, in combination with accreditation requirements, necessitates the need to evaluate the learning environment of educational programs. The Health Education Learning Environment Survey (HELES) is a recently-developed global measure of the learning environment for health professions programs. This paper provides evidence of the applicability of the HELES for evaluating the learning environment across four health professions programs: medicine, nursing, occupational therapy and pharmaceutical sciences. Two consecutive years of HELES data were collected from each program at a single university (year 1 = 552 students; year 2 = 745 students) using an anonymous online survey. Reliability analyses across programs and administration years supported the reliability of the tool. Two-way factorial ANOVAs with program and administration year as the independent variables indicated statistically- and practically-significant differences across programs for four of the seven scales. Overall, these results support the use of the HELES to evaluate student perceptions of the learning environment multiple of health professions programs.

The influence of an all-female healthcare environment on mentorship and empowerment of female healthcare professionals.

Low- and middle-income countries (LMICs) have the greatest need for additional healthcare providers, and women outside the workforce help address the need. Women in healthcare need more mentorship and leadership training to advance their careers due to systemic barriers. This study evaluates how women working together on a medical team influences mentorship, leadership and empowerment. A single all-female volunteer team participating in a cleft surgery mission in Oujda, Morocco were surveyed before and after the mission. Statistical analysis with student's t-test or chi-squared were performed. 95 female volunteers from 23 countries participated on this team and 85% completed surveys. Volunteers from high-income countries (32%) and LMICs (68%) had similar mission roles (p = 0.58). Experience as a mission volunteer (p = 0.47), team leader (p = 0.28), and educator (p = 0.18) were equivalent between cohorts. 73% of women had previously received mentorship but 98% wanted more. 75% had previously mentored others, but 97% wanted to be mentors. 73% of volunteers who had no prior mentorship found their first mentor during the mission. All participants found a long-term peer relationship and felt motivated to mentor women at home. 95% were inspired to pursue leadership positions, advance professionally, and continue working with other women. This population of female healthcare professionals overwhelmingly desired more mentorship than is felt to be available. An all-female healthcare environment appears to provide opportunities for mentorship and create lasting motivation to teach, lead, and advance professionally. Findings raise the potential that increasing visibility of female professionals may effectively empower women in healthcare.

Stepping out of the shadows: Creating a graphic novella to address bullying in nursing education.

The prevalence of bullying in nursing and nursing education is of serious concern. Not only is bullying an issue at the interpersonal level, it is also pervasive at structural and institutional levels. Addressing bullying requires attention to all levels. In previous published work, we emphasized the importance of transparent and easily accessible processes and reporting mechanisms for students if or when they witness or experience bullying in nursing education. In this paper, we describe one of a number of education initiatives designed to inform stakeholders (students, faculty members, clinical instructors, registered nurses, clinical education leaders) about the prevalence of bullying, the nature of bullying, the consequences of bullying, and some strategies to address bullying in nursing education. We chose a creative approach in the form of a graphic novella (aka comic) because we believed that this medium would be visually appealing and user friendly and would therefore draw stakeholders, especially students, to the sensitive nature of the content embedded within it.

Commentary: Exploring the Intersections between Bullying and Racism in Nursing.

Although bullying and racism are often explored separately in nursing literature, this commentary explores how bullying and racism intersect with each other. It emphasizes the importance of clearly understanding the meaning of each concept and argues that a focus on the intersectionality between the two ensures that bullying and racism are addressed not only at the intra- and interpersonal levels but also at the structural level. The authors ask themselves and their readers to reflect on posed questions and to make a commitment not to "do nothing" but instead to "do something."

Strengthening communication education in an undergraduate nursing curriculum.

As effective communication is an essential professional competency that is conceptualized and developed during undergraduate education, the purpose of this study was to investigate and reinforce the role of communication in the nursing undergraduate curriculum. Analysis of faculty and student focus group discussions revealed the benefit of purposefully structuring and explicitly articulating communication education throughout the undergraduate curriculum for increased accessibility and visibility of communication education, expanded ranges of available teaching and learning methods and resources, and strengthened ability to address undermining mixed communication messages. These findings have implications for how to specifically include communication education in a learning-centered undergraduate curriculum.

Interrupting the cycle of bullying witnessed or experienced by nursing students: An ethical and relational action framework.

BACKGROUND: The prevalence of bullying experienced by nursing students continues to be a substantial concern for the profession, especially for nurse educators. It is also an issue in other health care professional programs. OBJECTIVES: To explore how educational institutions address bullying experienced by nursing and other health care professional students, with the goal of creating a set of procedures for reporting bullying if students witness or experience it during their education. DESIGN: Qualitative Description. Our central question was "What processes and resources do faculty members use when students disclose an experience related to bullying?" SETTINGS: Educational institutions in Western Canada. PARTICIPANTS: Nine faculty members and one staff member with a student service role from nursing and other health care profession programs. METHODS: Semi-structured interviews. RESULTS: We found significant variation in interviewees' conceptions of bullying and the policies, processes, and resources for addressing bullying within programs. We adopted an existing definition of bullying; designed a set of procedures focused on reporting mechanisms; and developed a guiding framework entitled Addressing Bullying in Nursing Education: An Ethical and Relational Action Framework. CONCLUSIONS: Nursing and other health care professional programs should ensure they have 1) clear and transparent procedures to report bullying 2) education about bullying for students and faculty.

The role of smoke from cooking indoors over an open flame and parental smoking on the risk of cleft lip and palate: A case- control study in 7 low-resource countries.

BACKGROUND: Cleft is one of the most common birth defects globally and the lack of access to surgery means millions are living untreated. Smoke exposure from cooking occurs infrequently in developed countries but represents a high-proportion of smoke exposure in less-developed regions. We aimed to study if smoke exposure from cooking is associated with an increased risk in cleft, while accounting for other smoke sources. METHODS: We conducted a population-sampled case-control study of children with cleft lip and/or palate and healthy newborns from Vietnam, Philippines, Honduras, Nicaragua, Morocco, Congo, and Madagascar. Multivariable regression models were used to assess associations between maternal cooking during pregnancy, parental smoking, and household tobacco smoke with cleft. RESULTS: 2137 cases and 2014 controls recruited between 2012-2017 were included. While maternal smoking was uncommon (<1%), 58.3% case and 36.1% control mothers cooked over an open fire inside. Children whose mothers reported cook smoke exposure were 49% (95% confidence interval (CI) = 1.2-1.8) more likely to have a child with a cleft. This was consistent in five of seven countries. No significant associations were found for any other smoke exposure. CONCLUSIONS: Our finding of maternal cook smoke and cleft in low-resource countries, similar to maternal tobacco smoke in high-resource countries, may reflect a common etiology. This relationship was present across geographically diverse countries with variable socioeconomic statuses and access to care. Exposures specific to low-resource settings must be considered to develop public health strategies that address the populations at increased risk of living with cleft and inform the mechanisms leading to cleft development.

Exploring the implications of a self-care assignment to foster undergraduate nursing student mental health: Findings from a survey research study.

BACKGROUND: Nursing students experience numerous personal, academic, and practice-related stressors, impacting their mental health. Nursing programs often contribute to student stress and should incorporate strategies to support students' mental health. Self-care has the potential to enhance students' ability to manage current stressors and to build capacity for addressing future stress and burnout; however, the concept has been limitedly integrated into nursing education. OBJECTIVES: To examine students' responses to a self-care assignment integrated into core nursing coursework. DESIGN: Cross-sectional study using an online survey. SETTINGS: An accelerated two-year undergraduate nursing program in Western Canada. PARTICIPANTS: Undergraduate nursing students in first- and second-year of a two-year program. METHODS: A 16-question survey, including closed- and open-ended response fields was developed by the research team. Survey questions were grounded in Bloom's Cognitive, Psychomotor, and Affective learning domains to comprehensively examine the impact of the assignment on students' learning and self-care capacity. RESULTS: 89 participants completed the survey (49% response rate). Participants' increase in self-care practices pre- and post-assignment was statistically significant (p = 0.023). Results further demonstrate that students' knowledge of self-care and capacity to identify and manage stressors were enhanced. Participants reported that overall the assignment supported their well-being. However, some participants described that aspects of the assignment detracted from well-being, including challenges with grading and feelings of guilt when not practicing self-care. CONCLUSIONS: A self-care assignment is an effective strategy for nursing educators to foster students' capacity to cope with stressors.